#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
MYOZ2	51778	broad.mit.edu	37	4	120079300	120079300	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:120079300G>T	ENST00000307128.5	+	4	583	c.370G>T	c.(370-372)Gct>Tct	p.A124S		NM_016599.4	NP_057683.1			myozenin 2											endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						AGACAACATTGCTCCAGGTAA	0.438																																						ENST00000307128.5																			0				endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(370-372)Gct>Tct		myozenin 2							120.0	114.0	116.0					4																	120079300		2203	4300	6503	SO:0001583	missense	51778						protein phosphatase 2B binding	g.chr4:120079300G>T	AF249873	CCDS3711.1	4q26-q27	2014-09-17	2002-01-07	2002-01-11	ENSG00000172399	ENSG00000172399			1330	protein-coding gene	gene with protein product		605602	"""chromosome 4 open reading frame 5"""	C4orf5		8619474, 9110174	Standard	NM_016599		Approved	CS-1	uc003icp.4	Q9NPC6	OTTHUMG00000132968	ENST00000307128.5:c.370G>T	4.37:g.120079300G>T	ENSP00000306997:p.Ala124Ser						p.A124S	NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN			4	583	+			124						Missense_Mutation	SNP	ENST00000307128.5	37	c.370G>T	CCDS3711.1	.	.	.	.	.	.	.	.	.	.	G	31	5.066197	0.93898	.	.	ENSG00000172399	ENST00000307128	T	0.66815	-0.23	5.55	5.55	0.83447	.	0.050518	0.85682	D	0.000000	T	0.81650	0.4867	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.82497	-0.0428	10	0.66056	D	0.02	-16.6068	19.4973	0.95079	0.0:0.0:1.0:0.0	.	124	Q9NPC6	MYOZ2_HUMAN	S	124	ENSP00000306997:A124S	ENSP00000306997:A124S	A	+	1	0	MYOZ2	120298748	1.000000	0.71417	0.994000	0.49952	0.862000	0.49288	8.580000	0.90784	2.608000	0.88229	0.655000	0.94253	GCT		0.438	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256526.2			5	346	1	0	0.000602214	1	0.000617207	5	346				
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16.0	18.0	18.0					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		7	99	0	0	0	1	0	7	99				
FAM71F1	84691	broad.mit.edu	37	7	128363345	128363345	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:128363345C>T	ENST00000315184.5	+	4	835	c.782C>T	c.(781-783)gCc>gTc	p.A261V	FAM71F1_ENST00000485070.1_Missense_Mutation_p.A162V|FAM71F1_ENST00000469348.1_3'UTR	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	261								p.A261V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						CAGATTTTTGCCGACTTACAC	0.502																																						ENST00000315184.5																			1	Substitution - Missense(1)	p.A261V(1)	prostate(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(781-783)gCc>gTc		family with sequence similarity 71, member F1							118.0	116.0	117.0					7																	128363345		2203	4300	6503	SO:0001583	missense	84691							g.chr7:128363345C>T	AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member A"""	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.782C>T	7.37:g.128363345C>T	ENSP00000326652:p.Ala261Val					FAM71F1_ENST00000485070.1_Missense_Mutation_p.A162V|FAM71F1_ENST00000469348.1_3'UTR	p.A261V	NM_032599.2	NP_115988.1	Q96KD3	F71F1_HUMAN			4	835	+			261					Q8IY75|Q8NA48	Missense_Mutation	SNP	ENST00000315184.5	37	c.782C>T	CCDS5804.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717581	0.48622	.	.	ENSG00000135248	ENST00000485070;ENST00000315184;ENST00000466842	T;T;T	0.24151	1.87;3.23;1.92	5.2	3.36	0.38483	.	0.643829	0.14692	N	0.304119	T	0.17365	0.0417	L	0.33485	1.01	0.26152	N	0.980124	B;B;B;B;B	0.18310	0.011;0.01;0.003;0.002;0.027	B;B;B;B;B	0.15052	0.012;0.006;0.004;0.002;0.006	T	0.17992	-1.0351	10	0.30854	T	0.27	-2.5683	6.5261	0.22303	0.1782:0.7313:0.0:0.0905	.	153;261;261;261;162	B4DY15;F8WC62;Q96KD3-2;Q96KD3;Q8NA48	.;.;.;F71F1_HUMAN;.	V	162;261;117	ENSP00000418192:A162V;ENSP00000326652:A261V;ENSP00000417930:A117V	ENSP00000326652:A261V	A	+	2	0	FAM71F1	128150581	0.133000	0.22466	0.998000	0.56505	0.995000	0.86356	0.071000	0.14594	0.862000	0.35528	0.555000	0.69702	GCC		0.502	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2	NM_032599		6	411	0	0	0	1	0	6	411				
ADARB1	104	broad.mit.edu	37	21	46596475	46596475	+	Missense_Mutation	SNP	C	C	T	rs142476560		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr21:46596475C>T	ENST00000360697.3	+	2	874	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000348831.4_Missense_Mutation_p.R287W|ADARB1_ENST00000539173.1_Missense_Mutation_p.R287W|ADARB1_ENST00000389863.4_Missense_Mutation_p.R287W			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	287	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		TGCCAAGGCCCGGGCTGCGCA	0.572																																						ENST00000539173.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17						c.(859-861)Cgg>Tgg		adenosine deaminase, RNA-specific, B1							52.0	56.0	55.0					21																	46596475		2203	4300	6503	SO:0001583	missense	104				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding	g.chr21:46596475C>T	U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"""RED1 homolog (rat)"""	601218	"""adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"""			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000360697.3:c.859C>T	21.37:g.46596475C>T	ENSP00000353920:p.Arg287Trp					ADARB1_ENST00000360697.3_Missense_Mutation_p.R287W|ADARB1_ENST00000389863.4_Missense_Mutation_p.R287W|ADARB1_ENST00000348831.4_Missense_Mutation_p.R287W|ADARB1_ENST00000437626.1_Intron	p.R287W	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN		Colorectal(79;0.115)	4	1294	+			287			DRBM 2.		A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Missense_Mutation	SNP	ENST00000360697.3	37	c.859C>T	CCDS33589.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077779	0.76528	.	.	ENSG00000197381	ENST00000539173;ENST00000539917;ENST00000389863;ENST00000348831;ENST00000360697	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.14	5.14	0.70334	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.061314	0.64402	D	0.000003	D	0.86727	0.6002	M	0.77486	2.375	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.998;0.998	D;D;D;D;D	0.77004	0.957;0.989;0.975;0.957;0.957	D	0.87690	0.2553	10	0.72032	D	0.01	-46.512	11.5532	0.50733	0.1787:0.8213:0.0:0.0	.	314;287;287;315;287	P78563-4;P78563;Q4AE77;G5E9B4;P78563-3	.;RED1_HUMAN;.;.;.	W	287	ENSP00000441897:R287W;ENSP00000374513:R287W;ENSP00000015877:R287W;ENSP00000353920:R287W	ENSP00000015877:R287W	R	+	1	2	ADARB1	45420903	0.994000	0.37717	1.000000	0.80357	0.976000	0.68499	2.697000	0.47060	2.552000	0.86080	0.655000	0.94253	CGG		0.572	ADARB1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206648.2	NM_015833		86	230	0	0	0	1	0	86	230				
PRMT8	56341	broad.mit.edu	37	12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(91-93)Tcc>Ccc		protein arginine methyltransferase 8							41.0	51.0	47.0					12																	3649787		2199	4299	6498	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649787T>C	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.91T>C	12.37:g.3649787T>C	ENSP00000372067:p.Ser31Pro					PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	p.S31P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	481	+			31					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.91T>C	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834665	0.50951	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.30182	1.65;1.54	5.52	-6.61	0.01818	.	0.606566	0.17318	N	0.178612	T	0.16171	0.0389	L	0.43152	1.355	0.28544	N	0.911948	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09997	-1.0649	10	0.29301	T	0.29	.	3.8844	0.09091	0.1085:0.1587:0.4822:0.2506	.	22;31	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	P	22;31	ENSP00000414507:S22P;ENSP00000372067:S31P	ENSP00000372067:S31P	S	+	1	0	PRMT8	3520048	0.000000	0.05858	0.001000	0.08648	0.946000	0.59487	-0.825000	0.04433	-0.996000	0.03455	0.460000	0.39030	TCC		0.652	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		15	183	0	0	0	1	0	15	183				
PTPRS	5802	broad.mit.edu	37	19	5244288	5244288	+	Silent	SNP	G	G	A	rs144956737		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:5244288G>A	ENST00000587303.1	-	10	1293	c.1194C>T	c.(1192-1194)taC>taT	p.Y398Y	PTPRS_ENST00000353284.2_Silent_p.Y385Y|PTPRS_ENST00000357368.4_Silent_p.Y398Y|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Silent_p.Y394Y|PTPRS_ENST00000588012.1_Silent_p.Y385Y|PTPRS_ENST00000592099.1_Silent_p.Y385Y|PTPRS_ENST00000372412.4_Silent_p.Y399Y|PTPRS_ENST00000348075.2_Silent_p.Y385Y			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	398	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CCCAGATCTCGTACTCCGAGT	0.637																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(1195-1197)taC>taT		protein tyrosine phosphatase, receptor type, S		G	,,,	1,4405	2.1+/-5.4	0,1,2202	69.0	58.0	62.0		1194,1155,1155,1167	-4.9	0.9	19	dbSNP_134	62	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPRS	NM_002850.3,NM_130853.2,NM_130854.2,NM_130855.2	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	398/1949,385/1502,385/1911,389/1506	5244288	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5244288G>A	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1194C>T	19.37:g.5244288G>A						PTPRS_ENST00000353284.2_Silent_p.Y385Y|PTPRS_ENST00000262963.6_Silent_p.Y394Y|PTPRS_ENST00000357368.4_Silent_p.Y398Y|PTPRS_ENST00000587303.1_Silent_p.Y398Y|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Silent_p.Y385Y|PTPRS_ENST00000592099.1_Silent_p.Y385Y|PTPRS_ENST00000348075.2_Silent_p.Y385Y	p.Y399Y			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	11	1430	-			398			Fibronectin type-III 1.		O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	ENST00000587303.1	37	c.1197C>T	CCDS45930.1																																																																																				0.637	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			63	204	0	0	0	1	0	63	204				
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	40								p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I40T(4)	prostate(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(118-120)aTc>aCc																																						SO:0001583	missense	0							g.chr20:29625875T>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.119T>C	20.37:g.29625875T>C	ENSP00000278882:p.Ile40Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T	p.I40T							5	499	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.119T>C		.	.	.	.	.	.	.	.	.	.	t	10.51	1.369778	0.24771	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.51071	0.72	1.68	1.68	0.24146	.	0.052751	0.64402	D	0.000001	T	0.59865	0.2225	.	.	.	0.51482	D	0.999924	P	0.49862	0.929	D	0.64687	0.928	T	0.59386	-0.7464	9	0.52906	T	0.07	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	45	F5H5R5	.	T	40;45;40	ENSP00000408863:I45T	ENSP00000278882:I40T	I	+	2	0	FRG1B	28239536	1.000000	0.71417	0.982000	0.44146	0.025000	0.11179	6.565000	0.73974	1.028000	0.39785	0.155000	0.16302	ATC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		13	362	0	0	0	1	0	13	362				
SDK1	221935	broad.mit.edu	37	7	4188979	4188979	+	Silent	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:4188979C>T	ENST00000404826.2	+	30	4648	c.4509C>T	c.(4507-4509)agC>agT	p.S1503S	SDK1_ENST00000389531.3_Silent_p.S1503S	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1503	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TCCCGGGCAGCGACGGGGCCT	0.677																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(4507-4509)agC>agT		sidekick cell adhesion molecule 1							27.0	28.0	27.0					7																	4188979		2202	4299	6501	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4188979C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4509C>T	7.37:g.4188979C>T						SDK1_ENST00000389531.3_Silent_p.S1503S	p.S1503S	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	30	4648	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1503			Fibronectin type-III 9.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.4509C>T	CCDS34590.1																																																																																				0.677	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		10	50	0	0	0	1	0	10	50				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			0							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			7	263	0	0	0	1	0	7	263				
TNN	63923	broad.mit.edu	37	1	175105027	175105027	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:175105027G>T	ENST00000239462.4	+	16	3490	c.3377G>T	c.(3376-3378)tGg>tTg	p.W1126L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1126	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.W1126*(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TTCAAGCGATGGAGGAGCTAT	0.537																																						ENST00000239462.4																			1	Substitution - Nonsense(1)	p.W1126*(1)	large_intestine(1)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(3376-3378)tGg>tTg		tenascin N							151.0	151.0	151.0					1																	175105027		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175105027G>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3377G>T	1.37:g.175105027G>T	ENSP00000239462:p.Trp1126Leu						p.W1126L	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	16	3490	+		Breast(1374;0.000962)	1126			Fibrinogen C-terminal.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.3377G>T	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.912742	0.92178	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	D	0.86865	-2.18	5.5	5.5	0.81552	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.115488	0.64402	D	0.000005	D	0.96614	0.8895	H	0.98818	4.34	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.98254	1.0495	10	0.87932	D	0	.	19.003	0.92841	0.0:0.0:1.0:0.0	.	1126	Q9UQP3	TENN_HUMAN	L	1126;949	ENSP00000239462:W1126L	ENSP00000239462:W1126L	W	+	2	0	TNN	173371650	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.420000	0.97426	2.555000	0.86185	0.655000	0.94253	TGG		0.537	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		105	394	1	0	1.14936e-50	1	1.26738e-50	105	394				
NRG1	3084	broad.mit.edu	37	8	32505842	32505842	+	Intron	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr8:32505842G>A	ENST00000405005.3	+	5	502				NRG1_ENST00000338921.4_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000520502.2_Silent_p.T202T|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000523079.1_Intron			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AGGTGAGAACGCCCAAGTCAG	0.493																																						ENST00000520502.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(604-606)acG>acA		neuregulin 1							86.0	72.0	77.0					8																	32505842		2203	4300	6503	SO:0001627	intron_variant	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32505842G>A	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.502+31439G>A	8.37:g.32505842G>A						NRG1_ENST00000523079.1_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000287840.5_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000356819.4_Intron	p.T202T	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	1	606	+		Breast(100;0.203)	463			EGF-like.		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Silent	SNP	ENST00000405005.3	37	c.606G>A	CCDS6085.1																																																																																				0.493	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			50	157	0	0	0	1	0	50	157				
VPS39	23339	broad.mit.edu	37	15	42457994	42457994	+	Silent	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr15:42457994C>T	ENST00000348544.4	-	18	1733	c.1734G>A	c.(1732-1734)ccG>ccA	p.P578P	VPS39_ENST00000318006.5_Silent_p.P567P			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	578					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		ACTCCACTTCCGGGAGATCTT	0.473																																						ENST00000318006.5																			0				breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1699-1701)ccG>ccA		vacuolar protein sorting 39 homolog (S. cerevisiae)							76.0	77.0	77.0					15																	42457994		2203	4299	6502	SO:0001819	synonymous_variant	23339				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity	g.chr15:42457994C>T	AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.1734G>A	15.37:g.42457994C>T						VPS39_ENST00000348544.4_Silent_p.P578P	p.P567P	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	17	1863	-		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	578					O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Silent	SNP	ENST00000348544.4	37	c.1701G>A	CCDS10083.1																																																																																				0.473	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289		4	286	0	0	0	1	0	4	286				
ADAMTSL3	57188	broad.mit.edu	37	15	84705713	84705713	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr15:84705713G>A	ENST00000286744.5	+	29	5167	c.4943G>A	c.(4942-4944)cGg>cAg	p.R1648Q	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R1648Q	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1648						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATTTCCTGGCGGCACTGTCTT	0.527																																						ENST00000286744.5																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(4942-4944)cGg>cAg		ADAMTS-like 3							87.0	79.0	82.0					15																	84705713		2203	4299	6502	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84705713G>A	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.4943G>A	15.37:g.84705713G>A	ENSP00000286744:p.Arg1648Gln					ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R1648Q	p.R1648Q	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		29	5167	+			1648					A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.4943G>A	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	6.948	0.544751	0.13312	.	.	ENSG00000156218	ENST00000286744	T	0.61274	0.12	5.19	2.26	0.28386	.	1.096740	0.07323	N	0.878014	T	0.31888	0.0811	N	0.11364	0.135	0.27026	N	0.964354	B;B	0.21452	0.033;0.056	B;B	0.10450	0.005;0.002	T	0.22661	-1.0210	10	0.02654	T	1	.	7.0906	0.25282	0.4565:0.0:0.5435:0.0	.	1648;1648	P82987-2;P82987	.;ATL3_HUMAN	Q	1648	ENSP00000286744:R1648Q	ENSP00000286744:R1648Q	R	+	2	0	ADAMTSL3	82496717	1.000000	0.71417	0.966000	0.40874	0.998000	0.95712	1.780000	0.38634	0.701000	0.31803	0.655000	0.94253	CGG		0.527	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		47	163	0	0	0	1	0	47	163				
NPIPB11	728888	broad.mit.edu	37	16	29415043	29415043	+	Silent	SNP	G	G	A	rs62035609		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr16:29415043G>A	ENST00000524087.1	-	2	155	c.81C>T	c.(79-81)caC>caT	p.H27H	SNX29P2_ENST00000398878.3_lincRNA			E5RHQ5	NPB11_HUMAN	nuclear pore complex interacting protein family, member B11	27						integral component of membrane (GO:0016021)		p.H27H(24)									CTGACTTTACGTGCTGCTGCA	0.577																																						ENST00000524087.1																			24	Substitution - coding silent(24)	p.H27H(24)	endometrium(22)|kidney(2)								c.(79-81)caC>caT		nuclear pore complex interacting protein family, member B11																																				SO:0001819	synonymous_variant	728888							g.chr16:29415043G>A			16p11.2	2013-06-11			ENSG00000254206	ENSG00000254206			37453	protein-coding gene	gene with protein product							Standard	XM_006721110		Approved			E5RHQ5	OTTHUMG00000170467	ENST00000524087.1:c.81C>T	16.37:g.29415043G>A						SNX29P2_ENST00000398878.3_lincRNA	p.H27H							2	155	-									Silent	SNP	ENST00000524087.1	37	c.81C>T																																																																																					0.577	NPIPB11-001	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000374094.1	XM_002343430		5	70	0	0	0	1	0	5	70				
IRS1	3667	broad.mit.edu	37	2	227659846	227659846	+	Silent	SNP	T	T	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:227659846T>G	ENST00000305123.5	-	1	4629	c.3609A>C	c.(3607-3609)ccA>ccC	p.P1203P	IRS1_ENST00000498335.1_5'UTR	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	1203	Pro-rich.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGGTGGGGGTGGGGGAGGCT	0.582																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(3607-3609)ccA>ccC		insulin receptor substrate 1							30.0	40.0	37.0					2																	227659846		2202	4299	6501	SO:0001819	synonymous_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227659846T>G		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.3609A>C	2.37:g.227659846T>G						IRS1_ENST00000498335.1_5'UTR	p.P1203P	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	4629	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	1203			Pro-rich.			Silent	SNP	ENST00000305123.5	37	c.3609A>C	CCDS2463.1																																																																																				0.582	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		8	138	0	0	0	1	0	8	138				
PCDHA3	56145	broad.mit.edu	37	5	140182409	140182409	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr5:140182409C>T	ENST00000522353.2	+	1	1627	c.1627C>T	c.(1627-1629)Ccg>Tcg	p.P543S	PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.P543S|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	543	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)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGGCGTGCCGCCTCTGGG	0.682																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1627-1629)Ccg>Tcg									85.0	86.0	86.0					5																	140182409		2203	4298	6501	SO:0001583	missense	0							g.chr5:140182409C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1627C>T	5.37:g.140182409C>T	ENSP00000429808:p.Pro543Ser					PCDHA3_ENST00000532566.2_Missense_Mutation_p.P543S|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.P543S	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1627	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.1627C>T	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	14.59	2.581320	0.46006	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.56776	0.44;0.44	4.68	4.68	0.58851	Cadherin (4);Cadherin-like (1);	0.000000	0.41605	U	0.000845	T	0.75744	0.3891	M	0.88031	2.925	0.41141	D	0.985959	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.973	T	0.81315	-0.0988	10	0.87932	D	0	.	13.7316	0.62792	0.0:0.8455:0.1545:0.0	.	543;543	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	S	543	ENSP00000429808:P543S;ENSP00000434086:P543S	ENSP00000429808:P543S	P	+	1	0	PCDHA3	140162593	1.000000	0.71417	0.995000	0.50966	0.170000	0.22686	7.386000	0.79775	2.340000	0.79590	0.306000	0.20318	CCG		0.682	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		6	607	0	0	0	1	0	6	607				
AKAP6	9472	broad.mit.edu	37	14	33291973	33291973	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr14:33291973C>T	ENST00000280979.4	+	13	5124	c.4954C>T	c.(4954-4956)Cga>Tga	p.R1652*	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1652	Ser-rich.				action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAAGATAAAACGAAGTGTTTC	0.418																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(4954-4956)Cga>Tga		A kinase (PRKA) anchor protein 6							71.0	71.0	71.0					14																	33291973		2203	4300	6503	SO:0001587	stop_gained	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33291973C>T	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4954C>T	14.37:g.33291973C>T	ENSP00000280979:p.Arg1652*					AKAP6_ENST00000557272.1_Intron	p.R1652*	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	5124	+	Breast(36;0.0388)|Prostate(35;0.15)		1652			Ser-rich.		A7E242|A7E2D4|O15028	Nonsense_Mutation	SNP	ENST00000280979.4	37	c.4954C>T	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	44	10.633637	0.99441	.	.	ENSG00000151320	ENST00000280979	.	.	.	5.98	3.08	0.35506	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6398	15.1411	0.72612	0.3707:0.6293:0.0:0.0	.	.	.	.	X	1652	.	ENSP00000280979:R1652X	R	+	1	2	AKAP6	32361724	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	4.452000	0.60054	0.371000	0.24564	-0.188000	0.12872	CGA		0.418	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		55	216	0	0	0	1	0	55	216				
PTPRN2	5799	broad.mit.edu	37	7	157926586	157926586	+	Missense_Mutation	SNP	C	C	T	rs142388788		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:157926586C>T	ENST00000389418.4	-	9	1348	c.1339G>A	c.(1339-1341)Gtc>Atc	p.V447I	PTPRN2_ENST00000389413.3_Missense_Mutation_p.V447I|PTPRN2_ENST00000409483.1_Missense_Mutation_p.V409I|PTPRN2_ENST00000389416.4_Missense_Mutation_p.V430I|PTPRN2_ENST00000404321.2_Missense_Mutation_p.V470I	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	447					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TGGCTCTTGACGTTCTCCACT	0.612																																						ENST00000389413.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86						c.(1339-1341)Gtc>Atc		protein tyrosine phosphatase, receptor type, N polypeptide 2			ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	70.0	74.0	73.0		1339,1288,1339	2.9	0.0	7	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PTPRN2	NM_002847.3,NM_130842.2,NM_130843.2	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	447/1016,430/999,447/987	157926586	1,13005	2203	4300	6503	SO:0001583	missense	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157926586C>T	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1339G>A	7.37:g.157926586C>T	ENSP00000374069:p.Val447Ile					PTPRN2_ENST00000389416.4_Missense_Mutation_p.V430I|PTPRN2_ENST00000409483.1_Missense_Mutation_p.V409I|PTPRN2_ENST00000404321.2_Missense_Mutation_p.V470I|PTPRN2_ENST00000389418.4_Missense_Mutation_p.V447I	p.V447I	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	9	1442	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	447					E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	c.1339G>A	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.997688	0.35226	0.0	1.16E-4	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.07327	3.29;3.2;3.26;3.29;3.25	3.78	2.88	0.33553	.	0.310886	0.20844	U	0.084645	T	0.05181	0.0138	L	0.32530	0.975	0.26315	N	0.977769	P;P;P;P;P	0.45902	0.868;0.792;0.868;0.792;0.792	B;B;B;B;B	0.30572	0.117;0.055;0.117;0.055;0.055	T	0.32214	-0.9915	10	0.56958	D	0.05	.	9.1024	0.36676	0.0:0.89:0.0:0.11	.	470;409;447;430;447	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	I	409;447;430;447;470	ENSP00000387114:V409I;ENSP00000374064:V447I;ENSP00000374067:V430I;ENSP00000374069:V447I;ENSP00000385464:V470I	ENSP00000374064:V447I	V	-	1	0	PTPRN2	157619347	0.443000	0.25641	0.048000	0.18961	0.043000	0.13939	1.614000	0.36911	0.681000	0.31386	0.585000	0.79938	GTC		0.612	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			123	483	0	0	0	1	0	123	483				
DOCK5	80005	broad.mit.edu	37	8	25193885	25193885	+	Silent	SNP	T	T	C	rs200618924		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr8:25193885T>C	ENST00000276440.7	+	22	2367	c.2323T>C	c.(2323-2325)Ttg>Ctg	p.L775L		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	775					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGTGCTCTACTTGAGGTAATG	0.448													T|||	1	0.000199681	0.0	0.0	5008	,	,		22263	0.001		0.0	False		,,,				2504	0.0				Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2323-2325)Ttg>Ctg		dedicator of cytokinesis 5							97.0	85.0	89.0					8																	25193885		2203	4300	6503	SO:0001819	synonymous_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25193885T>C		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2323T>C	8.37:g.25193885T>C							p.L775L	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	22	2367	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	775					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	37	c.2323T>C	CCDS6047.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	9.240	1.038124	0.19669	.	.	ENSG00000147459	ENST00000444569	.	.	.	5.76	-4.24	0.03777	.	0.000000	0.64402	D	0.000001	T	0.64875	0.2638	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65348	-0.6190	5	.	.	.	.	15.9667	0.79979	0.0:0.7662:0.0:0.2338	.	.	.	.	P	546	.	.	L	+	2	0	DOCK5	25249802	0.795000	0.28851	0.949000	0.38748	0.803000	0.45373	-0.041000	0.12084	-0.567000	0.06046	-0.263000	0.10527	CTT		0.448	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		19	94	0	0	0	1	0	19	94				
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95								p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378																																						ENST00000278882.3																			4	Substitution - coding silent(4)	p.G95G(4)	urinary_tract(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)ggG>ggC																																						SO:0001819	synonymous_variant	0							g.chr20:29628283G>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.285G>C	20.37:g.29628283G>C						FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G	p.G95G							6	665	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.285G>C																																																																																					0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		9	290	0	0	0	1	0	9	290				
TENM2	57451	broad.mit.edu	37	5	167489122	167489122	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr5:167489122G>A	ENST00000518659.1	+	7	1406	c.1367G>A	c.(1366-1368)cGg>cAg	p.R456Q	TENM2_ENST00000519204.1_Missense_Mutation_p.R335Q|TENM2_ENST00000403607.2_Missense_Mutation_p.R289Q|TENM2_ENST00000545108.1_Missense_Mutation_p.R456Q|TENM2_ENST00000520394.1_Missense_Mutation_p.R224Q	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	456					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GTTGGTCGGCGGGTAACACAA	0.468																																						ENST00000519204.1																			0											c.(1003-1005)cGg>cAg		teneurin transmembrane protein 2							83.0	86.0	86.0					5																	167489122		1854	4100	5954	SO:0001583	missense	57451							g.chr5:167489122G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1367G>A	5.37:g.167489122G>A	ENSP00000429430:p.Arg456Gln					TENM2_ENST00000518659.1_Missense_Mutation_p.R456Q|TENM2_ENST00000520394.1_Missense_Mutation_p.R224Q|TENM2_ENST00000403607.2_Missense_Mutation_p.R289Q|TENM2_ENST00000545108.1_Missense_Mutation_p.R456Q	p.R335Q							6	1122	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.1004G>A		.	.	.	.	.	.	.	.	.	.	G	12.00	1.805851	0.31961	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15	5.63	4.76	0.60689	.	0.188735	0.42420	D	0.000705	T	0.15392	0.0371	L	0.38175	1.15	0.18873	N	0.999983	B;B;B	0.28971	0.021;0.229;0.044	B;B;B	0.21546	0.005;0.035;0.022	T	0.17077	-1.0381	10	0.16420	T	0.52	.	12.5128	0.56015	0.1385:0.0:0.8615:0.0	.	456;224;335	Q9NT68;F8VNQ3;G3V106	TEN2_HUMAN;.;.	Q	456;456;335;224;289	ENSP00000429430:R456Q;ENSP00000438635:R456Q;ENSP00000428964:R335Q;ENSP00000427874:R224Q;ENSP00000384905:R289Q	ENSP00000384905:R289Q	R	+	2	0	ODZ2	167421700	1.000000	0.71417	0.338000	0.25549	0.975000	0.68041	6.654000	0.74387	1.378000	0.46305	0.655000	0.94253	CGG		0.468	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		37	123	0	0	0	1	0	37	123				
VSIG1	340547	broad.mit.edu	37	X	107316507	107316507	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:107316507G>A	ENST00000217957.5	+	5	713	c.596G>A	c.(595-597)gGa>gAa	p.G199E	VSIG1_ENST00000415430.3_Missense_Mutation_p.G235E	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	199	Ig-like C2-type 2.					integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						TTGGTCATTGGAAATCTGACA	0.418																																						ENST00000415430.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(703-705)gGa>gAa		V-set and immunoglobulin domain containing 1							231.0	213.0	219.0					X																	107316507		2203	4300	6503	SO:0001583	missense	340547					integral to membrane		g.chrX:107316507G>A	BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.596G>A	X.37:g.107316507G>A	ENSP00000217957:p.Gly199Glu					VSIG1_ENST00000217957.5_Missense_Mutation_p.G199E	p.G235E	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN			6	865	+			199					C9J4P2|Q6MZS4	Missense_Mutation	SNP	ENST00000217957.5	37	c.704G>A	CCDS14535.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.786560	0.70337	.	.	ENSG00000101842	ENST00000415430;ENST00000217957	T;T	0.11495	2.77;2.77	5.27	4.41	0.53225	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.207594	0.40908	D	0.000995	T	0.12944	0.0314	N	0.16790	0.44	0.42936	D	0.99433	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.985	T	0.13845	-1.0494	10	0.02654	T	1	.	9.9443	0.41600	0.0969:0.0:0.9031:0.0	.	235;199	C9J4P2;Q86XK7	.;VSIG1_HUMAN	E	235;199	ENSP00000402219:G235E;ENSP00000217957:G199E	ENSP00000217957:G199E	G	+	2	0	VSIG1	107203163	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.976000	0.56867	1.198000	0.43158	0.513000	0.50165	GGA		0.418	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	NM_182607		194	1011	0	0	0	1	0	194	1011				
FSCN1	6624	broad.mit.edu	37	7	5644983	5644983	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:5644983G>A	ENST00000382361.3	+	5	1474	c.1360G>A	c.(1360-1362)Gag>Aag	p.E454K	FSCN1_ENST00000340250.6_Missense_Mutation_p.E433K	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	454					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CTTCTTCTTCGAGTTCTGCGA	0.617																																						ENST00000382361.3																			0				central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(1360-1362)Gag>Aag		fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)							63.0	58.0	60.0					7																	5644983		2203	4300	6503	SO:0001583	missense	6624				actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging	g.chr7:5644983G>A	U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"""Fascins"""	11148	protein-coding gene	gene with protein product	"""Singed, drosophila, homolog-like"", ""actin bundling protein"""	602689	"""singed (Drosophila)-like (sea urchin fascin homolog like)"", ""fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"""	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.1360G>A	7.37:g.5644983G>A	ENSP00000371798:p.Glu454Lys					FSCN1_ENST00000340250.6_Missense_Mutation_p.E433K	p.E454K	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)	5	1474	+		Ovarian(82;0.0694)	454					A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Missense_Mutation	SNP	ENST00000382361.3	37	c.1360G>A	CCDS5342.1	.	.	.	.	.	.	.	.	.	.	G	31	5.060521	0.93846	.	.	ENSG00000075618	ENST00000340250;ENST00000382361;ENST00000535097	T;T	0.52057	0.68;0.68	4.0	4.0	0.46444	Fascin domain (1);Actin cross-linking (1);	0.062034	0.64402	D	0.000007	T	0.45377	0.1339	M	0.62209	1.925	0.80722	D	1	P	0.50443	0.935	B	0.39068	0.289	T	0.59069	-0.7523	10	0.87932	D	0	-0.2446	15.5031	0.75716	0.0:0.0:1.0:0.0	.	454	Q16658	FSCN1_HUMAN	K	433;454;176	ENSP00000339729:E433K;ENSP00000371798:E454K	ENSP00000339729:E433K	E	+	1	0	FSCN1	5611509	1.000000	0.71417	0.998000	0.56505	0.878000	0.50629	9.420000	0.97426	1.944000	0.56390	0.549000	0.68633	GAG		0.617	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207153.3	NM_003088		45	157	0	0	0	1	0	45	157				
SDHAP1	255812	broad.mit.edu	37	3	195698264	195698264	+	RNA	SNP	T	T	C	rs12485654	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:195698264T>C	ENST00000427841.1	-	0	1608					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		TTTGTCAACATTCGTGACAGA	0.413																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195698264T>C	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195698264T>C								NR_003264.2						0	1608	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.413	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			9	229	0	0	0	1	0	9	229				
SETBP1	26040	broad.mit.edu	37	18	42530405	42530405	+	Missense_Mutation	SNP	G	G	A	rs367742803		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr18:42530405G>A	ENST00000282030.5	+	4	1396	c.1100G>A	c.(1099-1101)gGg>gAg	p.G367E		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	367						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AATACAGAAGGGAAAAGGGAA	0.448									Schinzel-Giedion syndrome																													ENST00000282030.5																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(1099-1101)gGg>gAg		SET binding protein 1							65.0	65.0	65.0					18																	42530405		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42530405G>A	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.1100G>A	18.37:g.42530405G>A	ENSP00000282030:p.Gly367Glu						p.G367E	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	1396	+			367					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.1100G>A	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702158	0.48307	.	.	ENSG00000152217	ENST00000282030	T	0.37058	1.22	5.78	5.78	0.91487	.	0.166529	0.53938	D	0.000041	T	0.31358	0.0794	L	0.27053	0.805	0.36681	D	0.87903	P	0.38597	0.639	B	0.35655	0.207	T	0.34551	-0.9824	10	0.87932	D	0	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	367	Q9Y6X0	SETBP_HUMAN	E	367	ENSP00000282030:G367E	ENSP00000282030:G367E	G	+	2	0	SETBP1	40784403	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	3.539000	0.53604	2.894000	0.99253	0.655000	0.94253	GGG		0.448	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		61	173	0	0	0	1	0	61	173				
LDB2	9079	broad.mit.edu	37	4	16504411	16504411	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:16504411G>A	ENST00000304523.5	-	8	1300	c.977C>T	c.(976-978)aCg>aTg	p.T326M	LDB2_ENST00000502640.1_3'UTR|LDB2_ENST00000515064.1_Missense_Mutation_p.T324M|LDB2_ENST00000441778.2_3'UTR|RP11-446J8.1_ENST00000512370.1_RNA	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	326	LIM-binding domain (LID). {ECO:0000250}.				epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						ATCATATTGCGTGTTTTCTAA	0.537																																						ENST00000304523.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						c.(976-978)aCg>aTg		LIM domain binding 2							238.0	209.0	219.0					4																	16504411		2203	4300	6503	SO:0001583	missense	9079						LIM domain binding|transcription cofactor activity	g.chr4:16504411G>A	AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.977C>T	4.37:g.16504411G>A	ENSP00000306772:p.Thr326Met					LDB2_ENST00000441778.2_3'UTR|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000502640.1_3'UTR|LDB2_ENST00000515064.1_Missense_Mutation_p.T324M	p.T326M	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN			8	1300	-			326			LIM-binding domain (LID) (By similarity).		O60619|O75480	Missense_Mutation	SNP	ENST00000304523.5	37	c.977C>T	CCDS3420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.11|16.11	3.030178|3.030178	0.54790|0.54790	.|.	.|.	ENSG00000169744|ENSG00000169744	ENST00000507464|ENST00000515064;ENST00000304523	.|T;T	.|0.26810	.|1.71;1.71	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.50531|0.50531	0.1621|0.1621	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.998;1.0;1.0	.|D;P;P;D	.|0.75020	.|0.985;0.899;0.891;0.949	T|T	0.43491|0.43491	-0.9388|-0.9388	5|10	.|0.45353	.|T	.|0.12	-13.6093|-13.6093	18.3199|18.3199	0.90234|0.90234	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|290;324;326;300	.|B7Z6D0;G5E9Y7;O43679;O43679-3	.|.;.;LDB2_HUMAN;.	C|M	247|324;326	.|ENSP00000422552:T324M;ENSP00000306772:T326M	.|ENSP00000306772:T326M	R|T	-|-	1|2	0|0	LDB2|LDB2	16113509|16113509	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.869000|9.869000	0.99810|0.99810	2.558000|2.558000	0.86282|0.86282	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.537	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2			125	508	0	0	0	1	0	125	508				
KIAA1522	57648	broad.mit.edu	37	1	33237860	33237860	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:33237860G>A	ENST00000373480.1	+	6	3006	c.2903G>A	c.(2902-2904)cGc>cAc	p.R968H	KIAA1522_ENST00000401073.2_Missense_Mutation_p.R1027H|KIAA1522_ENST00000373481.3_Missense_Mutation_p.R979H|YARS_ENST00000469100.1_5'Flank|KIAA1522_ENST00000294521.3_Intron	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	968	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCTGTGGCCCGCAAGCCGTCT	0.662																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(3079-3081)cGc>cAc		KIAA1522							30.0	36.0	34.0					1																	33237860		1900	4100	6000	SO:0001583	missense	57648							g.chr1:33237860G>A	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.2903G>A	1.37:g.33237860G>A	ENSP00000362579:p.Arg968His					KIAA1522_ENST00000373480.1_Missense_Mutation_p.R968H|KIAA1522_ENST00000373481.3_Missense_Mutation_p.R979H|KIAA1522_ENST00000294521.3_Intron	p.R1027H	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			6	3150	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	968					B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	c.3080G>A	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043295	0.75732	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.16597	2.33;2.34;2.35	5.05	4.14	0.48551	.	0.086750	0.45867	D	0.000333	T	0.20941	0.0504	M	0.61703	1.905	0.30845	N	0.73524	D;D;D	0.57257	0.979;0.979;0.979	P;P;P	0.46049	0.502;0.502;0.502	T	0.16541	-1.0399	10	0.46703	T	0.11	-11.6125	8.9717	0.35910	0.2107:0.0:0.7892:0.0	.	979;968;1027	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	H	1027;979;968	ENSP00000383851:R1027H;ENSP00000362580:R979H;ENSP00000362579:R968H	ENSP00000362579:R968H	R	+	2	0	KIAA1522	33010447	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.416000	0.52707	1.503000	0.48686	0.650000	0.86243	CGC		0.662	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			4	177	0	0	0	1	0	4	177				
SIAH3	283514	broad.mit.edu	37	13	46357678	46357678	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr13:46357678G>A	ENST00000400405.2	-	2	756	c.650C>T	c.(649-651)aCg>aTg	p.T217M		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	217					multicellular organismal development (GO:0007275)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						AGACCGGGGCGTGGCCTCCCA	0.612																																						ENST00000400405.2																			0				large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						c.(649-651)aCg>aTg		siah E3 ubiquitin protein ligase family member 3							48.0	54.0	52.0					13																	46357678		1999	4152	6151	SO:0001583	missense	283514				multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding	g.chr13:46357678G>A		CCDS41883.1	13q14.12	2012-02-23	2012-02-23		ENSG00000215475	ENSG00000215475			30553	protein-coding gene	gene with protein product		615609	"""seven in absentia homolog 3 (Drosophila)"""			12477932	Standard	NM_198849		Approved	FLJ39203	uc001vap.3	Q8IW03	OTTHUMG00000016862	ENST00000400405.2:c.650C>T	13.37:g.46357678G>A	ENSP00000383256:p.Thr217Met						p.T217M	NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN			2	756	-			217					B7ZBP0|Q8N8M6	Missense_Mutation	SNP	ENST00000400405.2	37	c.650C>T	CCDS41883.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.748952	0.69533	.	.	ENSG00000215475	ENST00000400405	T	0.27256	1.68	5.07	5.07	0.68467	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	U	0.000000	T	0.44767	0.1309	L	0.44542	1.39	0.51482	D	0.999923	D	0.89917	1.0	D	0.91635	0.999	T	0.31223	-0.9951	10	0.51188	T	0.08	-19.0347	17.4324	0.87543	0.0:0.0:1.0:0.0	.	217	Q8IW03	SIAH3_HUMAN	M	217	ENSP00000383256:T217M	ENSP00000383256:T217M	T	-	2	0	SIAH3	45255679	1.000000	0.71417	0.987000	0.45799	0.493000	0.33554	9.719000	0.98760	2.369000	0.80426	0.561000	0.74099	ACG		0.612	SIAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044788.2	NM_198849		37	167	0	0	0	1	0	37	167				
TGM5	9333	broad.mit.edu	37	15	43552730	43552730	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr15:43552730G>A	ENST00000220420.5	-	2	65	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	TGM5_ENST00000349114.4_Missense_Mutation_p.R20W	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	20					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GTGTGGTGCCGCACATTATTT	0.587																																						ENST00000220420.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(58-60)Cgg>Tgg		transglutaminase 5	L-Glutamine(DB00130)						110.0	113.0	112.0					15																	43552730		2202	4299	6501	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43552730G>A	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.58C>T	15.37:g.43552730G>A	ENSP00000220420:p.Arg20Trp					TGM5_ENST00000349114.4_Missense_Mutation_p.R20W	p.R20W	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	2	65	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	20					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.58C>T	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741549	0.30865	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	D;D	0.85088	-1.94;-1.94	5.64	1.55	0.23275	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	1.143940	0.06194	N	0.681888	T	0.81616	0.4860	L	0.40543	1.245	0.09310	N	1	D;P	0.56287	0.975;0.903	B;P	0.47827	0.253;0.558	T	0.68070	-0.5506	10	0.72032	D	0.01	-1.8221	3.7194	0.08450	0.0758:0.2681:0.3804:0.2758	.	20;20	O43548-2;O43548	.;TGM5_HUMAN	W	20;20;19	ENSP00000220420:R20W;ENSP00000220419:R20W	ENSP00000220420:R20W	R	-	1	2	TGM5	41340022	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	0.060000	0.14342	0.040000	0.15660	0.555000	0.69702	CGG		0.587	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		59	452	0	0	0	1	0	59	452				
PDHA2	5161	broad.mit.edu	37	4	96762066	96762066	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:96762066G>T	ENST00000295266.4	+	1	828	c.765G>T	c.(763-765)atG>atT	p.M255I		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	255					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		TCGATGGAATGGATGTTCTGT	0.463																																						ENST00000295266.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(763-765)atG>atT		pyruvate dehydrogenase (lipoamide) alpha 2	NADH(DB00157)						149.0	149.0	149.0					4																	96762066		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96762066G>T		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.765G>T	4.37:g.96762066G>T	ENSP00000295266:p.Met255Ile						p.M255I	NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	828	+		Hepatocellular(203;0.114)	255					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.765G>T	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365331	0.61513	.	.	ENSG00000163114	ENST00000295266	D	0.97209	-4.29	4.91	4.91	0.64330	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.98848	0.9611	H	0.94264	3.515	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.99282	1.0896	10	0.87932	D	0	-26.8691	16.0034	0.80327	0.0:0.0:1.0:0.0	.	255	P29803	ODPAT_HUMAN	I	255	ENSP00000295266:M255I	ENSP00000295266:M255I	M	+	3	0	PDHA2	96981089	1.000000	0.71417	0.992000	0.48379	0.523000	0.34469	4.138000	0.58017	2.733000	0.93635	0.467000	0.42956	ATG		0.463	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			48	171	1	0	6.68952e-21	1	7.15286e-21	48	171				
SIGLEC1	6614	broad.mit.edu	37	20	3673686	3673686	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr20:3673686C>T	ENST00000344754.4	-	14	3600	c.3601G>A	c.(3601-3603)Gcc>Acc	p.A1201T	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.A1201T	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1201	Ig-like C2-type 12.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCCAGCTGGGCGGGCGGGCGG	0.721																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(3601-3603)Gcc>Acc		sialic acid binding Ig-like lectin 1, sialoadhesin							11.0	15.0	14.0					20																	3673686		2156	4245	6401	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3673686C>T	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3601G>A	20.37:g.3673686C>T	ENSP00000341141:p.Ala1201Thr					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.A1201T	p.A1201T	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			14	3600	-			1201			Ig-like C2-type 12.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.3601G>A	CCDS13060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.66|17.66	3.443368|3.443368	0.63067|0.63067	.|.	.|.	ENSG00000088827|ENSG00000088827	ENST00000344754;ENST00000202578|ENST00000419548	T;T|.	0.75154|.	-0.91;-0.91|.	4.74|4.74	4.74|4.74	0.60224|0.60224	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.39615|.	N|.	0.001309|.	T|T	0.73992|0.73992	0.3658|0.3658	M|M	0.78223|0.78223	2.4|2.4	0.36727|0.36727	D|D	0.88151|0.88151	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.75484|.	0.986;0.966|.	T|T	0.79339|0.79339	-0.1844|-0.1844	10|5	0.30078|.	T|.	0.28|.	.|.	13.088|13.088	0.59153|0.59153	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1201;1201|.	Q9BZZ2;Q9BZZ2-3|.	SN_HUMAN;.|.	T|H	1201|14	ENSP00000341141:A1201T;ENSP00000202578:A1201T|.	ENSP00000202578:A1201T|.	A|R	-|-	1|2	0|0	SIGLEC1|SIGLEC1	3621686|3621686	0.045000|0.045000	0.20229|0.20229	0.979000|0.979000	0.43373|0.43373	0.294000|0.294000	0.27393|0.27393	0.222000|0.222000	0.17699|0.17699	2.477000|2.477000	0.83638|0.83638	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.721	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		48	103	0	0	0	1	0	48	103				
WIPI2	26100	broad.mit.edu	37	7	5232787	5232787	+	Missense_Mutation	SNP	G	G	A	rs200762936		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:5232787G>A	ENST00000288828.4	+	2	345	c.113G>A	c.(112-114)cGt>cAt	p.R38H	WIPI2_ENST00000401525.3_Intron|WIPI2_ENST00000404704.3_Missense_Mutation_p.R38H|WIPI2_ENST00000485854.1_Intron|WIPI2_ENST00000382384.2_Intron	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	38					autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		GGTCTTGGCCGTCGCGCTGTT	0.388																																						ENST00000288828.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16						c.(112-114)cGt>cAt		WD repeat domain, phosphoinositide interacting 2							136.0	136.0	136.0					7																	5232787		2203	4300	6503	SO:0001583	missense	26100				autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr7:5232787G>A		CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"""WD repeat domain containing"""	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.113G>A	7.37:g.5232787G>A	ENSP00000288828:p.Arg38His					WIPI2_ENST00000401525.3_Intron|WIPI2_ENST00000485854.1_Intron|WIPI2_ENST00000382384.2_Intron|WIPI2_ENST00000404704.3_Missense_Mutation_p.R38H	p.R38H	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)	2	345	+		Ovarian(82;0.0175)	38					B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Missense_Mutation	SNP	ENST00000288828.4	37	c.113G>A	CCDS5339.1	.	.	.	.	.	.	.	.	.	.	G	7.818	0.717084	0.15372	.	.	ENSG00000157954	ENST00000288828;ENST00000404704	T;T	0.35973	1.28;1.28	3.42	-6.11	0.02131	.	608.758000	0.01314	U	0.010739	T	0.15782	0.0380	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18967	-1.0320	10	0.40728	T	0.16	.	6.7201	0.23325	0.3457:0.1644:0.4899:0.0	.	38;38	Q9Y4P8-6;Q9Y4P8	.;WIPI2_HUMAN	H	38	ENSP00000288828:R38H;ENSP00000385297:R38H	ENSP00000288828:R38H	R	+	2	0	WIPI2	5199313	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.087000	0.01360	-1.161000	0.02800	-1.223000	0.01593	CGT		0.388	WIPI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241669.2	NM_015610		97	376	0	0	0	1	0	97	376				
ZC3H11A	9877	broad.mit.edu	37	1	203821508	203821508	+	Nonsense_Mutation	SNP	C	C	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:203821508C>G	ENST00000545588.1	+	17	6241	c.2414C>G	c.(2413-2415)tCa>tGa	p.S805*	ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S805*	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	805					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S805*(3)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CTTGAGCTATCAGAAATGATT	0.378																																						ENST00000545588.1																			3	Substitution - Nonsense(3)	p.S805*(3)	endometrium(2)|lung(1)	central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2413-2415)tCa>tGa		zinc finger CCCH-type containing 11A																																				SO:0001587	stop_gained	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203821508C>G		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.2414C>G	1.37:g.203821508C>G	ENSP00000438527:p.Ser805*					ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S805*	p.S805*	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		17	6241	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		805					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Nonsense_Mutation	SNP	ENST00000545588.1	37	c.2414C>G	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	C	40	8.446087	0.98815	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	.	.	.	5.9	4.99	0.66335	.	0.140252	0.49916	D	0.000132	.	.	.	.	.	.	0.45172	D	0.998181	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.7509	15.4578	0.75330	0.14:0.86:0.0:0.0	.	.	.	.	X	805;751;805;805;805;805	.	ENSP00000333253:S805X	S	+	2	0	ZC3H11A	202088131	1.000000	0.71417	0.920000	0.36463	0.858000	0.48976	6.206000	0.72154	1.492000	0.48499	-0.175000	0.13238	TCA		0.378	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		4	198	0	0	0	1	0	4	198				
DNAH3	55567	broad.mit.edu	37	16	21080832	21080832	+	Silent	SNP	T	T	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr16:21080832T>A	ENST00000261383.3	-	23	3284	c.3285A>T	c.(3283-3285)ccA>ccT	p.P1095P	DNAH3_ENST00000415178.1_Silent_p.P1095P	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1095	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AACTGAAGATTGGTTCCAGGT	0.433																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(3283-3285)ccA>ccT		dynein, axonemal, heavy chain 3							195.0	158.0	171.0					16																	21080832		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21080832T>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3285A>T	16.37:g.21080832T>A						DNAH3_ENST00000415178.1_Silent_p.P1095P	p.P1095P	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	23	3284	-			1095			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.3285A>T	CCDS10594.1																																																																																				0.433	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		9	628	0	0	0	1	0	9	628				
SDHAP1	255812	broad.mit.edu	37	3	195698262	195698262	+	RNA	SNP	C	C	G	rs28503679	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:195698262C>G	ENST00000427841.1	-	0	1610					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AATTTGTCAACATTCGTGACA	0.418																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195698262C>G	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195698262C>G								NR_003264.2						0	1610	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.418	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			8	236	0	0	0	1	0	8	236				
CDK13	8621	broad.mit.edu	37	7	40027359	40027359	+	Missense_Mutation	SNP	A	A	C			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:40027359A>C	ENST00000181839.4	+	2	1978	c.1373A>C	c.(1372-1374)aAa>aCa	p.K458T	CDK13_ENST00000340829.5_Missense_Mutation_p.K458T	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	458					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AAGAATAAAAAagcacgagca	0.488																																						ENST00000181839.4																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						c.(1372-1374)aAa>aCa		cyclin-dependent kinase 13							44.0	44.0	44.0					7																	40027359		2203	4300	6503	SO:0001583	missense	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40027359A>C	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.1373A>C	7.37:g.40027359A>C	ENSP00000181839:p.Lys458Thr					CDK13_ENST00000340829.5_Missense_Mutation_p.K458T	p.K458T	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN			2	1978	+			458					Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	c.1373A>C	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.358737	0.61403	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.66638	-0.22;-0.22	5.95	5.95	0.96441	.	.	.	.	.	T	0.79924	0.4530	M	0.61703	1.905	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.79212	-0.1896	8	.	.	.	-13.8654	16.4101	0.83708	1.0:0.0:0.0:0.0	.	458;458	Q14004-2;Q14004	.;CDK13_HUMAN	T	458	ENSP00000181839:K458T;ENSP00000340557:K458T	.	K	+	2	0	CDK13	39993884	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.281000	0.72632	2.280000	0.76307	0.460000	0.39030	AAA		0.488	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		4	226	0	0	0	1	0	4	226				
VWF	7450	broad.mit.edu	37	12	6138548	6138548	+	Missense_Mutation	SNP	C	C	T	rs181452677		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:6138548C>T	ENST00000261405.5	-	22	3181	c.2927G>A	c.(2926-2928)cGc>cAc	p.R976H		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	976	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCTCAGGTGGCGGTCCCAGAC	0.557													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19884	0.0		0.0	False		,,,				2504	0.0					ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(2926-2928)cGc>cAc		von Willebrand factor	Antihemophilic Factor(DB00025)						147.0	134.0	138.0					12																	6138548		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6138548C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2927G>A	12.37:g.6138548C>T	ENSP00000261405:p.Arg976His						p.R976H	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			22	3181	-			976			VWFD 3.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.2927G>A	CCDS8539.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	4.964	0.178991	0.09443	.	.	ENSG00000110799	ENST00000261405	T	0.59364	0.27	4.58	-4.91	0.03085	von Willebrand factor, type D domain (3);	1.340220	0.05412	N	0.542595	T	0.42471	0.1204	L	0.31578	0.945	0.09310	N	0.999998	B	0.14012	0.009	B	0.10450	0.005	T	0.30268	-0.9984	10	0.32370	T	0.25	.	10.1299	0.42672	0.111:0.1943:0.0:0.6948	.	976	P04275	VWF_HUMAN	H	976	ENSP00000261405:R976H	ENSP00000261405:R976H	R	-	2	0	VWF	6008809	0.000000	0.05858	0.141000	0.22245	0.187000	0.23431	-0.956000	0.03865	-1.024000	0.03338	-0.347000	0.07816	CGC		0.557	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		75	245	0	0	0	1	0	75	245				
FDPS	2224	broad.mit.edu	37	1	155289625	155289625	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:155289625G>A	ENST00000356657.6	+	10	1127	c.965G>A	c.(964-966)gGc>gAc	p.G322D	FDPS_ENST00000447866.1_Missense_Mutation_p.G256D|RUSC1_ENST00000368352.5_5'Flank|RUSC1_ENST00000368354.3_5'Flank|RUSC1-AS1_ENST00000450199.1_RNA|FDPS_ENST00000368356.4_Missense_Mutation_p.G322D|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	322					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	AGTGTGACCGGCAAAATTGGC	0.567																																						ENST00000356657.6																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10						c.(964-966)gGc>gAc		farnesyl diphosphate synthase	Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)						113.0	112.0	112.0					1																	155289625		2203	4300	6503	SO:0001583	missense	2224				cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding	g.chr1:155289625G>A	J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"""farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"""	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.965G>A	1.37:g.155289625G>A	ENSP00000349078:p.Gly322Asp					FDPS_ENST00000368356.4_Missense_Mutation_p.G322D|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|FDPS_ENST00000447866.1_Missense_Mutation_p.G256D	p.G322D	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		10	1127	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		322					D3DV91|E9PCI9|Q96G29	Missense_Mutation	SNP	ENST00000356657.6	37	c.965G>A	CCDS1110.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143251	0.77888	.	.	ENSG00000160752	ENST00000447866;ENST00000368356;ENST00000356657	T;T;T	0.73681	-0.77;-0.77;-0.77	4.28	4.28	0.50868	Terpenoid synthase (2);	0.000000	0.44688	D	0.000439	D	0.88250	0.6386	H	0.94698	3.57	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.90597	0.4541	10	0.87932	D	0	-1.7784	14.6536	0.68817	0.0:0.0:1.0:0.0	.	322	P14324	FPPS_HUMAN	D	256;322;322	ENSP00000391755:G256D;ENSP00000357340:G322D;ENSP00000349078:G322D	ENSP00000349078:G322D	G	+	2	0	FDPS	153556249	1.000000	0.71417	0.997000	0.53966	0.488000	0.33401	9.276000	0.95745	2.673000	0.90976	0.561000	0.74099	GGC		0.567	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039053.1	NM_002004		7	584	0	0	0	1	0	7	584				
GPI	2821	broad.mit.edu	37	19	34884838	34884838	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:34884838C>T	ENST00000356487.5	+	12	1170	c.929C>T	c.(928-930)aCg>aTg	p.T310M	GPI_ENST00000586425.1_Missense_Mutation_p.T310M|GPI_ENST00000415930.3_Missense_Mutation_p.T321M	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	310					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TTCCGCACGACGCCCCTGGAG	0.627																																						ENST00000415930.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(961-963)aCg>aTg		glucose-6-phosphate isomerase							128.0	127.0	127.0					19																	34884838		2203	4300	6503	SO:0001583	missense	2821				angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	g.chr19:34884838C>T	M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.929C>T	19.37:g.34884838C>T	ENSP00000348877:p.Thr310Met					GPI_ENST00000586425.1_Missense_Mutation_p.T310M|GPI_ENST00000356487.5_Missense_Mutation_p.T310M	p.T321M	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN			12	1132	+	Esophageal squamous(110;0.162)		310					B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	ENST00000356487.5	37	c.962C>T	CCDS12437.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.394367	0.42410	.	.	ENSG00000105220	ENST00000415930;ENST00000356487	D;D	0.93763	-3.28;-3.28	5.65	4.6	0.57074	.	0.386357	0.32868	N	0.005554	D	0.96030	0.8707	M	0.75085	2.285	0.44454	D	0.997381	B;D;B;B	0.56746	0.05;0.977;0.299;0.286	B;D;B;B	0.64144	0.094;0.922;0.094;0.157	D	0.96395	0.9292	10	0.72032	D	0.01	-0.4064	15.9577	0.79898	0.1361:0.8639:0.0:0.0	.	282;321;283;310	B4DE36;B4DG39;B4DVJ0;P06744	.;.;.;G6PI_HUMAN	M	321;310	ENSP00000405573:T321M;ENSP00000348877:T310M	ENSP00000348877:T310M	T	+	2	0	GPI	39576678	0.815000	0.29118	0.084000	0.20598	0.007000	0.05969	7.487000	0.81328	1.371000	0.46172	-0.188000	0.12872	ACG		0.627	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3			146	634	0	0	0	1	0	146	634				
NR0B1	190	broad.mit.edu	37	X	30327066	30327066	+	Missense_Mutation	SNP	G	G	C			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:30327066G>C	ENST00000378970.4	-	1	649	c.415C>G	c.(415-417)Cac>Gac	p.H139D	NR0B1_ENST00000378963.1_5'Flank|NR0B1_ENST00000453287.1_Missense_Mutation_p.H139D	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	139	4 X 67 AA tandem repeats.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	TGCCGCGGGTGGTCTTCACCA	0.692											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378970.4																			0				central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24						c.(415-417)Cac>Gac		nuclear receptor subfamily 0, group B, member 1	Dexamethasone(DB01234)|Tretinoin(DB00755)						22.0	21.0	21.0					X																	30327066		2202	4293	6495	SO:0001583	missense	190				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	g.chrX:30327066G>C	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"""Nuclear hormone receptors"""	7960	protein-coding gene	gene with protein product		300473	"""dosage-sensitive sex reversal"""	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.415C>G	X.37:g.30327066G>C	ENSP00000368253:p.His139Asp		OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	816	NR0B1_ENST00000453287.1_Missense_Mutation_p.H139D	p.H139D	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN			1	649	-			139			4 X 67 AA tandem repeats.		Q96F69	Missense_Mutation	SNP	ENST00000378970.4	37	c.415C>G	CCDS14223.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507718	0.64410	.	.	ENSG00000169297	ENST00000378970;ENST00000453287	D;D	0.98164	-3.9;-4.76	3.96	3.96	0.45880	.	0.000000	0.42053	D	0.000762	D	0.98397	0.9467	M	0.66939	2.045	0.40318	D	0.978796	D	0.69078	0.997	D	0.69142	0.962	D	0.99107	1.0845	10	0.87932	D	0	-5.5412	12.706	0.57061	0.0:0.0:1.0:0.0	.	139	P51843	NR0B1_HUMAN	D	139	ENSP00000368253:H139D;ENSP00000396403:H139D	ENSP00000368253:H139D	H	-	1	0	NR0B1	30236987	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	3.474000	0.53129	2.222000	0.72286	0.513000	0.50165	CAC		0.692	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	NM_000475		41	135	0	0	0	1	0	41	135				
MBD2	8932	broad.mit.edu	37	18	51691000	51691000	+	Silent	SNP	C	C	A	rs375244494		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr18:51691000C>A	ENST00000256429.3	-	5	1230	c.1002G>T	c.(1000-1002)gcG>gcT	p.A334A		NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	334					ATP-dependent chromatin remodeling (GO:0043044)|cellular protein complex assembly (GO:0043623)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|protein domain specific binding (GO:0019904)|satellite DNA binding (GO:0003696)|siRNA binding (GO:0035197)			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)		CTGTGATTGGCGCAGAGCTTG	0.473																																						ENST00000256429.3																			0				breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(1000-1002)gcG>gcT		methyl-CpG binding domain protein 2	Hexobarbital(DB01355)						112.0	97.0	102.0					18																	51691000		2203	4300	6503	SO:0001819	synonymous_variant	8932				transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding	g.chr18:51691000C>A	AF072242	CCDS11953.1, CCDS45871.1	18q21	2008-08-01			ENSG00000134046	ENSG00000134046			6917	protein-coding gene	gene with protein product		603547				9774669, 10441743	Standard	NM_003927		Approved		uc002lfg.2	Q9UBB5	OTTHUMG00000132705	ENST00000256429.3:c.1002G>T	18.37:g.51691000C>A							p.A334A	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN		Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	5	1230	-			334					O95242|Q9UIS8	Silent	SNP	ENST00000256429.3	37	c.1002G>T	CCDS11953.1																																																																																				0.473	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256003.2	NM_003927		4	216	1	0	1	1	1	4	216				
ENO1	2023	broad.mit.edu	37	1	8926458	8926458	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:8926458G>A	ENST00000234590.4	-	7	666	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	183	Required for repression of c-myc promoter activity.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCTCCAATGCGCATGGCTTCC	0.512																																					Esophageal Squamous(21;302 608 19946 22210 33560)	ENST00000234590.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(547-549)Cgc>Tgc		enolase 1, (alpha)							141.0	132.0	135.0					1																	8926458		2203	4300	6503	SO:0001583	missense	2023				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:8926458G>A	BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.547C>T	1.37:g.8926458G>A	ENSP00000234590:p.Arg183Cys						p.R183C	NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	7	666	-	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	183			Required for repression of c-myc promoter activity.		B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Missense_Mutation	SNP	ENST00000234590.4	37	c.547C>T	CCDS97.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.849934	0.71603	.	.	ENSG00000074800	ENST00000234590	T	0.58358	0.34	5.33	5.33	0.75918	Enolase, C-terminal (1);	0.052249	0.85682	N	0.000000	T	0.63792	0.2541	M	0.87097	2.86	0.80722	D	1	B;B;B;B;B	0.31769	0.194;0.238;0.339;0.161;0.194	B;B;B;B;B	0.34991	0.102;0.123;0.193;0.061;0.102	T	0.69720	-0.5069	10	0.87932	D	0	-2.9305	18.013	0.89230	0.0:0.0:1.0:0.0	.	87;150;21;90;183	E2DRY6;A4UCS8;Q9BT62;P06733-2;P06733	.;.;.;.;ENOA_HUMAN	C	183	ENSP00000234590:R183C	ENSP00000234590:R183C	R	-	1	0	ENO1	8849045	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.984000	0.88150	2.492000	0.84095	0.563000	0.77884	CGC		0.512	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428		6	452	0	0	0	1	0	6	452				
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	60										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(178-180)Cat>Tat																																						SO:0001583	missense	0							g.chr20:29625934C>T			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.178C>T	20.37:g.29625934C>T	ENSP00000278882:p.His60Tyr					FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y	p.H60Y							5	558	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.178C>T		.	.	.	.	.	.	.	.	.	.	c	3.585	-0.084798	0.07097	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.42131	0.98	1.68	1.68	0.24146	.	0.109676	0.64402	D	0.000005	T	0.32615	0.0835	.	.	.	0.23210	N	0.998115	B	0.26363	0.147	B	0.35859	0.212	T	0.27905	-1.0060	9	0.34782	T	0.22	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	65	F5H5R5	.	Y	60;65;60	ENSP00000408863:H65Y	ENSP00000278882:H60Y	H	+	1	0	FRG1B	28239595	1.000000	0.71417	0.997000	0.53966	0.021000	0.10359	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAT		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	437	0	0	0	1	0	6	437				
TAAR8	83551	broad.mit.edu	37	6	132874742	132874742	+	Missense_Mutation	SNP	C	C	A	rs371469740		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr6:132874742C>A	ENST00000275200.1	+	1	911	c.911C>A	c.(910-912)gCc>gAc	p.A304D		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	304					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TATAACTCAGCCATGAATCCT	0.343																																						ENST00000275200.1																			0				endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(910-912)gCc>gAc		trace amine associated receptor 8		C	ASP/ALA	1,4405	2.1+/-5.4	0,1,2202	139.0	144.0	142.0		911	2.8	0.7	6		142	0,8600		0,0,4300	no	missense	TAAR8	NM_053278.1	126	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging	304/343	132874742	1,13005	2203	4300	6503	SO:0001583	missense	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132874742C>A	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"""GPCR / Class A : Trace amine associated receptors"""	14964	protein-coding gene	gene with protein product		606927	"""trace amine receptor 5"""	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.911C>A	6.37:g.132874742C>A	ENSP00000275200:p.Ala304Asp						p.A304D	NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	911	+	Breast(56;0.112)		304					Q5VUQ0	Missense_Mutation	SNP	ENST00000275200.1	37	c.911C>A	CCDS5154.1	.	.	.	.	.	.	.	.	.	.	C	8.027	0.760856	0.15914	2.27E-4	0.0	ENSG00000146385	ENST00000275200	T	0.41065	1.01	4.57	2.76	0.32466	GPCR, rhodopsin-like superfamily (1);	0.097252	0.40908	D	0.000986	T	0.69378	0.3104	H	0.98426	4.23	0.09310	N	1	D	0.56521	0.976	D	0.69654	0.965	T	0.71958	-0.4435	10	0.87932	D	0	-12.6953	15.9979	0.80265	0.0:0.926:0.0:0.074	.	304	Q969N4	TAAR8_HUMAN	D	304	ENSP00000275200:A304D	ENSP00000275200:A304D	A	+	2	0	TAAR8	132916435	0.000000	0.05858	0.667000	0.29798	0.012000	0.07955	0.205000	0.17356	0.638000	0.30545	-1.347000	0.01240	GCC		0.343	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278		6	630	1	0	0.00198382	1	0.00201647	6	630				
SACS	26278	broad.mit.edu	37	13	23912096	23912096	+	Missense_Mutation	SNP	T	T	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr13:23912096T>G	ENST00000382292.3	-	9	6192	c.5919A>C	c.(5917-5919)aaA>aaC	p.K1973N	SACS_ENST00000382298.3_Missense_Mutation_p.K1973N|SACS_ENST00000402364.1_Missense_Mutation_p.K1223N			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1973					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGGTCAGTTCTTTCCCTTTTC	0.363																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(5917-5919)aaA>aaC		spastic ataxia of Charlevoix-Saguenay (sacsin)							61.0	64.0	63.0					13																	23912096		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23912096T>G	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.5919A>C	13.37:g.23912096T>G	ENSP00000371729:p.Lys1973Asn					SACS_ENST00000402364.1_Missense_Mutation_p.K1223N|SACS_ENST00000382292.3_Missense_Mutation_p.K1973N	p.K1973N	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	6507	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1973					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.5919A>C	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	6.072	0.381555	0.11524	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88354	-2.22;-2.37;-2.22	5.93	-1.21	0.09524	.	0.145938	0.64402	D	0.000008	T	0.78817	0.4343	N	0.25647	0.755	0.30667	N	0.753783	B	0.13594	0.008	B	0.11329	0.006	T	0.66048	-0.6020	10	0.33940	T	0.23	.	10.3333	0.43835	0.0:0.4088:0.0:0.5912	.	1973	Q9NZJ4	SACS_HUMAN	N	1973;1223;1973	ENSP00000371729:K1973N;ENSP00000385844:K1223N;ENSP00000371735:K1973N	ENSP00000371729:K1973N	K	-	3	2	SACS	22810096	1.000000	0.71417	0.742000	0.31022	0.119000	0.20118	0.854000	0.27791	-0.412000	0.07519	-0.353000	0.07706	AAA		0.363	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		39	221	0	0	0	1	0	39	221				
ABAT	18	broad.mit.edu	37	16	8858595	8858595	+	Splice_Site	SNP	G	G	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr16:8858595G>T	ENST00000396600.2	+	8	1386	c.448G>T	c.(448-450)Gtg>Ttg	p.V150L	ABAT_ENST00000425191.2_Splice_Site_p.V150L|ABAT_ENST00000268251.8_Splice_Site_p.V150L|ABAT_ENST00000567812.1_Splice_Site_p.V165L|ABAT_ENST00000569156.1_Splice_Site_p.V150L	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	150					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CTCCCCACAGGTGGCTCCCAA	0.597																																						ENST00000396600.2																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26						c.e8-1		4-aminobutyrate aminotransferase	Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)						116.0	93.0	101.0					16																	8858595		2197	4300	6497	SO:0001630	splice_region_variant	18				behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	g.chr16:8858595G>T	L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"""4-aminobutyrate transaminase"""	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.448-1G>T	16.37:g.8858595G>T						ABAT_ENST00000268251.8_Splice_Site_p.V150_splice|ABAT_ENST00000569156.1_Splice_Site_p.V150_splice|ABAT_ENST00000425191.2_Splice_Site_p.V150_splice|ABAT_ENST00000567812.1_Splice_Site_p.V165_splice	p.V150_splice	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN			8	1386	+			150					A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Splice_Site	SNP	ENST00000396600.2	37	c.447_splice	CCDS10534.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754306	0.69648	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	T;T;T	0.74315	-0.83;-0.83;-0.83	5.63	5.63	0.86233	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.057206	0.64402	D	0.000001	T	0.76485	0.3994	L	0.60455	1.87	0.80722	D	1	B	0.17268	0.021	B	0.35182	0.197	T	0.69964	-0.5002	9	.	.	.	-19.9755	18.7245	0.91710	0.0:0.0:1.0:0.0	.	150	P80404	GABT_HUMAN	L	150	ENSP00000268251:V150L;ENSP00000379845:V150L;ENSP00000411916:V150L	.	V	+	1	0	ABAT	8766096	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	6.063000	0.71162	2.661000	0.90470	0.650000	0.86243	GTG		0.597	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686	Missense_Mutation	8	275	1	0	0.0381472	1	0.0386163	8	275				
HECTD4	283450	broad.mit.edu	37	12	112642327	112642327	+	Silent	SNP	G	G	A	rs564756313	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:112642327G>A	ENST00000430131.2	-	52	8111	c.6966C>T	c.(6964-6966)gaC>gaT	p.D2322D	HECTD4_ENST00000377560.5_Silent_p.D2572D|HECTD4_ENST00000550722.1_Silent_p.D2598D			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2322					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TGTTTGCTTCGTCTTTAATGT	0.398													G|||	2	0.000399361	0.0	0.0	5008	,	,		21060	0.0		0.0	False		,,,				2504	0.002					ENST00000550722.1																			0											c.(7792-7794)gaC>gaT		HECT domain containing E3 ubiquitin protein ligase 4							95.0	95.0	95.0					12																	112642327		1893	4100	5993	SO:0001819	synonymous_variant	283450							g.chr12:112642327G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.6966C>T	12.37:g.112642327G>A						HECTD4_ENST00000377560.5_Silent_p.D2572D|HECTD4_ENST00000430131.2_Silent_p.D2322D	p.D2598D	NM_001109662.3	NP_001103132.3					53	8189	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.7794C>T		.	.	.	.	.	.	.	.	.	.	G	8.742	0.919312	0.17982	.	.	ENSG00000173064	ENST00000550968	.	.	.	6.17	-12.3	0.00002	.	.	.	.	.	T	0.69824	0.3154	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.81278	-0.1005	4	.	.	.	.	22.406	0.99971	0.324:0.0:0.676:0.0	.	.	.	.	M	489	.	.	T	-	2	0	C12orf51	111126710	0.000000	0.05858	0.095000	0.20976	0.996000	0.88848	-1.325000	0.02687	-2.850000	0.00331	-0.290000	0.09829	ACG		0.398	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		17	171	0	0	0	1	0	17	171				
FAM71B	153745	broad.mit.edu	37	5	156590194	156590194	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr5:156590194G>A	ENST00000302938.4	-	2	1177	c.1082C>T	c.(1081-1083)gCg>gTg	p.A361V		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	361						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCGGCCCCCGCCATCGAGGT	0.567																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1081-1083)gCg>gTg		family with sequence similarity 71, member B							33.0	36.0	35.0					5																	156590194		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156590194G>A		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1082C>T	5.37:g.156590194G>A	ENSP00000305596:p.Ala361Val						p.A361V	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1177	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	361					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1082C>T	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	G	8.201	0.798141	0.16397	.	.	ENSG00000170613	ENST00000302938	T	0.04156	3.69	3.83	-0.0601	0.13790	.	2.284610	0.01796	N	0.032639	T	0.01695	0.0054	N	0.08118	0	0.09310	N	1	P	0.35628	0.513	B	0.14023	0.01	T	0.32929	-0.9888	10	0.02654	T	1	0.1287	1.1705	0.01824	0.2063:0.1729:0.4431:0.1777	.	361	Q8TC56	FA71B_HUMAN	V	361	ENSP00000305596:A361V	ENSP00000305596:A361V	A	-	2	0	FAM71B	156522772	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.879000	0.04188	-0.036000	0.13669	-0.224000	0.12420	GCG		0.567	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		49	199	0	0	0	1	0	49	199				
MST1L	11223	broad.mit.edu	37	1	17083671	17083671	+	RNA	SNP	C	C	G	rs1057420	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:17083671C>G	ENST00000455405.2	-	0	917							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										aagtcttGTCCTTGACTGTAC	0.403																																						ENST00000455405.2																			0																																																			0							g.chr1:17083671C>G	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17083671C>G														0	917	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37																																																																																						0.403	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		29	137	0	0	0	1	0	29	137				
MORF4L1	10933	broad.mit.edu	37	15	79186408	79186408	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr15:79186408C>T	ENST00000331268.5	+	11	959	c.755C>T	c.(754-756)gCg>gTg	p.A252V	MORF4L1_ENST00000559345.1_Missense_Mutation_p.A125V|MORF4L1_ENST00000558746.1_Missense_Mutation_p.A186V|MORF4L1_ENST00000379535.4_Missense_Mutation_p.A238V|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000558502.1_Missense_Mutation_p.A125V|MORF4L1_ENST00000426013.2_Missense_Mutation_p.A213V	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	252	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.|Sufficient for interaction with PHF12.|Sufficient for interaction with SIN3A.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						AGGGAGTATGCGGTTAATGAA	0.333																																						ENST00000331268.5																			0				breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						c.(754-756)gCg>gTg		mortality factor 4 like 1							95.0	102.0	99.0					15																	79186408		2196	4293	6489	SO:0001583	missense	10933				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding	g.chr15:79186408C>T	AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"""MORF-related gene on chromosome 15"", ""Esa1p-associated factor 3 homolog (S. cerevisiae)"""	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.755C>T	15.37:g.79186408C>T	ENSP00000331310:p.Ala252Val					MORF4L1_ENST00000558746.1_Missense_Mutation_p.A186V|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000558502.1_Missense_Mutation_p.A125V|MORF4L1_ENST00000426013.2_Missense_Mutation_p.A213V|MORF4L1_ENST00000379535.4_Missense_Mutation_p.A238V|MORF4L1_ENST00000559345.1_Missense_Mutation_p.A125V	p.A252V	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN			11	959	+			252			Sufficient for interaction with PHF12.|Sufficient for interaction with SIN3A.		B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Missense_Mutation	SNP	ENST00000331268.5	37	c.755C>T	CCDS10307.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761130	0.69763	.	.	ENSG00000185787	ENST00000379535;ENST00000426013;ENST00000331268	T;T;T	0.08458	3.09;3.09;3.09	4.36	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.11580	0.0282	L	0.48174	1.505	0.80722	D	1	D;D	0.67145	0.996;0.978	P;B	0.48840	0.592;0.366	T	0.20107	-1.0285	10	0.09590	T	0.72	-22.9863	15.8341	0.78787	0.0:1.0:0.0:0.0	.	213;252	Q9UBU8-2;Q9UBU8	.;MO4L1_HUMAN	V	238;213;252	ENSP00000368850:A238V;ENSP00000408880:A213V;ENSP00000331310:A252V	ENSP00000331310:A252V	A	+	2	0	MORF4L1	76973463	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.604000	0.82830	2.123000	0.65237	0.650000	0.86243	GCG		0.333	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000290131.4	NM_006791		7	508	0	0	0	1	0	7	508				
BTBD11	121551	broad.mit.edu	37	12	108051434	108051434	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:108051434G>T	ENST00000280758.5	+	17	3782	c.3254G>T	c.(3253-3255)aGg>aTg	p.R1085M	BTBD11_ENST00000357167.4_Missense_Mutation_p.R622M|BTBD11_ENST00000420571.2_Missense_Mutation_p.R966M|BTBD11_ENST00000494235.2_Missense_Mutation_p.R164M	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1085						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GACTTACAGAGGACGTTGGCC	0.493																																						ENST00000280758.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(3253-3255)aGg>aTg		BTB (POZ) domain containing 11							128.0	114.0	119.0					12																	108051434		2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:108051434G>T	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.3254G>T	12.37:g.108051434G>T	ENSP00000280758:p.Arg1085Met					BTBD11_ENST00000357167.4_Missense_Mutation_p.R622M|BTBD11_ENST00000420571.2_Missense_Mutation_p.R966M|BTBD11_ENST00000494235.2_Missense_Mutation_p.R164M	p.R1085M	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN			17	3782	+			1085					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.3254G>T	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402325	0.83230	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000357167;ENST00000494235	T;T;T;T	0.39997	1.26;1.39;1.05;1.17	5.84	5.84	0.93424	.	0.085133	0.85682	D	0.000000	T	0.41026	0.1141	N	0.22421	0.69	0.58432	D	0.999994	D;D	0.56521	0.976;0.976	P;P	0.47744	0.459;0.556	T	0.22103	-1.0226	10	0.48119	T	0.1	.	20.1551	0.98106	0.0:0.0:1.0:0.0	.	622;1085	E9PHS4;A6QL63	.;BTBDB_HUMAN	M	1085;966;622;164	ENSP00000280758:R1085M;ENSP00000413889:R966M;ENSP00000349690:R622M;ENSP00000448322:R164M	ENSP00000280758:R1085M	R	+	2	0	BTBD11	106575564	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.694000	0.68272	2.760000	0.94817	0.655000	0.94253	AGG		0.493	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		38	181	1	0	6.86731e-36	1	7.50542e-36	38	181				
KCND1	3750	broad.mit.edu	37	X	48819916	48819916	+	Missense_Mutation	SNP	C	C	T	rs145016539		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:48819916C>T	ENST00000218176.3	-	6	3167	c.1870G>A	c.(1870-1872)Ggc>Agc	p.G624S	KCND1_ENST00000376477.1_Missense_Mutation_p.G247S	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	624					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	AGGGTGCTGCCGGCCCTGCCA	0.632																																						ENST00000218176.3																			0				endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						c.(1870-1872)Ggc>Agc		potassium voltage-gated channel, Shal-related subfamily, member 1			SER/GLY	3,3832		0,2,1,1630,570	31.0	27.0	28.0		1870	-1.0	0.0	X	dbSNP_134	28	0,6728		0,0,0,2428,1872	no	missense	KCND1	NM_004979.4	56	0,2,1,4058,2442	TT,TC,T,CC,C		0.0,0.0782,0.0284	benign	624/648	48819916	3,10560	2203	4300	6503	SO:0001583	missense	3750					voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity	g.chrX:48819916C>T	AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.1870G>A	X.37:g.48819916C>T	ENSP00000218176:p.Gly624Ser					KCND1_ENST00000376477.1_Missense_Mutation_p.G247S	p.G624S	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN			6	3167	-			624					A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	ENST00000218176.3	37	c.1870G>A	CCDS14314.1	.	.	.	.	.	.	.	.	.	.	c	1.827	-0.470870	0.04445	7.82E-4	0.0	ENSG00000102057	ENST00000376477;ENST00000218176	D;D	0.95918	-3.34;-3.85	5.32	-0.965	0.10323	.	1.211090	0.05587	N	0.573947	D	0.88919	0.6568	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.77501	-0.2564	10	0.02654	T	1	.	3.4758	0.07583	0.197:0.4041:0.0:0.3989	.	624	Q9NSA2	KCND1_HUMAN	S	247;624	ENSP00000365660:G247S;ENSP00000218176:G624S	ENSP00000218176:G624S	G	-	1	0	KCND1	48704860	0.959000	0.32827	0.014000	0.15608	0.107000	0.19398	1.496000	0.35638	0.195000	0.20347	-0.743000	0.03520	GGC		0.632	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060774.1	NM_004979		24	84	0	0	0	1	0	24	84				
LPCAT3	10162	broad.mit.edu	37	12	7086376	7086376	+	Missense_Mutation	SNP	G	G	C			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:7086376G>C	ENST00000261407.4	-	12	1481	c.1396C>G	c.(1396-1398)Cta>Gta	p.L466V	U47924.30_ENST00000606112.1_lincRNA|LPCAT3_ENST00000535021.1_5'UTR	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	466					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						AATATGAATAGTAGGCTCAGG	0.418																																						ENST00000261407.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						c.(1396-1398)Cta>Gta		lysophosphatidylcholine acyltransferase 3							88.0	90.0	89.0					12																	7086376		2203	4300	6503	SO:0001583	missense	10162				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity	g.chr12:7086376G>C	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"""O-acyltransferase (membrane bound) domain containing 5"", ""membrane bound O-acyltransferase domain containing 5"""	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.1396C>G	12.37:g.7086376G>C	ENSP00000261407:p.Leu466Val					U47924.19_ENST00000564245.1_RNA|LPCAT3_ENST00000535021.1_5'UTR	p.L466V	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN			12	1481	-			466					B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	ENST00000261407.4	37	c.1396C>G	CCDS8572.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379121	0.24944	.	.	ENSG00000111684	ENST00000261407	T	0.73897	-0.79	4.77	2.95	0.34219	.	0.147474	0.46758	D	0.000278	T	0.63698	0.2533	L	0.39898	1.24	0.48696	D	0.999699	P	0.49090	0.919	B	0.42087	0.375	T	0.58994	-0.7537	10	0.32370	T	0.25	-13.8297	10.1817	0.42972	0.2237:0.0:0.7763:0.0	.	466	Q6P1A2	MBOA5_HUMAN	V	466	ENSP00000261407:L466V	ENSP00000261407:L466V	L	-	1	2	LPCAT3	6956637	0.980000	0.34600	0.277000	0.24703	0.895000	0.52256	1.816000	0.38992	0.627000	0.30340	-0.258000	0.10820	CTA		0.418	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		62	158	0	0	0	1	0	62	158				
OR51I1	390063	broad.mit.edu	37	11	5462461	5462461	+	Missense_Mutation	SNP	G	G	A	rs115148889		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:5462461G>A	ENST00000380211.1	-	1	283	c.284C>T	c.(283-285)gCg>gTg	p.A95V	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	95					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	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)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCATTAAACGCAACATGGTT	0.458																																						ENST00000380211.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(283-285)gCg>gTg		olfactory receptor, family 51, subfamily I, member 1							138.0	123.0	128.0					11																	5462461		2201	4297	6498	SO:0001583	missense	390063				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5462461G>A	BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"""GPCR / Class A : Olfactory receptors"""	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.284C>T	11.37:g.5462461G>A	ENSP00000369559:p.Ala95Val					HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.A95V	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	283	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	95					B9EKW2|Q6IF33	Missense_Mutation	SNP	ENST00000380211.1	37	c.284C>T	CCDS31382.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.529926	0.45073	.	.	ENSG00000167359	ENST00000317283;ENST00000321307;ENST00000380211	T	0.37235	1.21	5.78	-2.31	0.06765	GPCR, rhodopsin-like superfamily (1);	0.518492	0.17730	N	0.163931	T	0.19366	0.0465	L	0.39898	1.24	0.09310	N	1	B	0.27700	0.186	B	0.19148	0.024	T	0.12708	-1.0537	10	0.62326	D	0.03	.	0.4262	0.00464	0.2041:0.2902:0.1998:0.3058	.	95	Q9H343	O51I1_HUMAN	V	80;92;95	ENSP00000369559:A95V	ENSP00000348350:A80V	A	-	2	0	OR51I1	5419037	0.000000	0.05858	0.025000	0.17156	0.074000	0.17049	-2.368000	0.01077	-0.628000	0.05582	-0.231000	0.12243	GCG		0.458	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288		52	153	0	0	0	1	0	52	153				
DNASE1	1773	broad.mit.edu	37	16	3706107	3706107	+	Missense_Mutation	SNP	G	G	A	rs140530129	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr16:3706107G>A	ENST00000246949.5	+	4	3450	c.241G>A	c.(241-243)Gca>Aca	p.A81T	DNASE1_ENST00000414110.2_Start_Codon_SNP_p.M1I|DNASE1_ENST00000407479.1_Missense_Mutation_p.A81T	NM_005223.3	NP_005214.2	P24855	DNAS1_HUMAN	deoxyribonuclease I	81					apoptotic process (GO:0006915)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	deoxyribonuclease I activity (GO:0004530)			lung(1)	1		Ovarian(90;0.0261)		Kidney(780;0.0556)		ATCCAGGGATGCACCAGACAC	0.597													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17749	0.0		0.0	False		,,,				2504	0.0					ENST00000246949.5																			0				lung(1)	1						c.(241-243)Gca>Aca		deoxyribonuclease I	Dornase Alfa(DB00003)						85.0	78.0	81.0					16																	3706107		2197	4300	6497	SO:0001583	missense	1773				apoptosis|DNA catabolic process	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity	g.chr16:3706107G>A		CCDS10507.1	16p13.3	2008-02-05			ENSG00000213918	ENSG00000213918	3.1.21.1		2956	protein-coding gene	gene with protein product		125505		DNL1		2349940	Standard	XM_005255148		Approved		uc002cvr.3	P24855	OTTHUMG00000129426	ENST00000246949.5:c.241G>A	16.37:g.3706107G>A	ENSP00000246949:p.Ala81Thr					DNASE1_ENST00000407479.1_Missense_Mutation_p.A81T|DNASE1_ENST00000414110.2_Start_Codon_SNP_p.M1I	p.A81T	NM_005223.3	NP_005214.2	P24855	DNAS1_HUMAN		Kidney(780;0.0556)	4	3450	+		Ovarian(90;0.0261)	81					B4DV35|Q14UU9|Q14UV0	Missense_Mutation	SNP	ENST00000246949.5	37	c.241G>A	CCDS10507.1	2|2	9.157509157509158E-4|9.157509157509158E-4	2|2	0.0040650406504065045|0.0040650406504065045	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	12.44|12.44	1.938101|1.938101	0.34189|0.34189	.|.	.|.	ENSG00000213918|ENSG00000213918	ENST00000407479;ENST00000246949|ENST00000414110	T;T|T	0.51071|0.40476	0.72;0.72|1.03	5.06|5.06	-0.503|-0.503	0.12000|0.12000	Endonuclease/exonuclease/phosphatase (2);|.	1.806170|.	0.02552|.	N|.	0.095796|.	T|T	0.23806|0.23806	0.0576|0.0576	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	N|N	1|1	B|.	0.14438|.	0.01|.	B|.	0.12837|.	0.008|.	T|T	0.29027|0.29027	-1.0025|-1.0025	10|7	0.42905|0.87932	T|D	0.14|0	-7.8118|-7.8118	4.4516|4.4516	0.11623|0.11623	0.3473:0.0:0.4251:0.2276|0.3473:0.0:0.4251:0.2276	.|.	81|.	P24855|.	DNAS1_HUMAN|.	T|I	81|1	ENSP00000385905:A81T;ENSP00000246949:A81T|ENSP00000416699:M1I	ENSP00000246949:A81T|ENSP00000416699:M1I	A|M	+|+	1|3	0|0	DNASE1|DNASE1	3646108|3646108	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.028000|0.028000	0.11728|0.11728	-0.075000|-0.075000	0.11431|0.11431	0.527000|0.527000	0.28560|0.28560	-0.291000|-0.291000	0.09656|0.09656	GCA|ATG		0.597	DNASE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251585.2			57	239	0	0	0	1	0	57	239				
FAM47A	158724	broad.mit.edu	37	X	34148936	34148936	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:34148936C>T	ENST00000346193.3	-	1	1511	c.1460G>A	c.(1459-1461)cGg>cAg	p.R487Q		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	487								p.R487Q(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACTGGACCTCCGACGTGTCTT	0.642																																						ENST00000346193.3																			1	Substitution - Missense(1)	p.R487Q(1)	large_intestine(1)	NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(1459-1461)cGg>cAg		family with sequence similarity 47, member A							47.0	54.0	51.0					X																	34148936		2192	4286	6478	SO:0001583	missense	158724							g.chrX:34148936C>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1460G>A	X.37:g.34148936C>T	ENSP00000345029:p.Arg487Gln						p.R487Q	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	1511	-			487					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.1460G>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	c	9.489	1.100058	0.20552	.	.	ENSG00000185448	ENST00000346193	T	0.16196	2.36	0.446	0.446	0.16602	.	.	.	.	.	T	0.10380	0.0254	N	0.24115	0.695	0.09310	N	1	D	0.62365	0.991	P	0.44811	0.461	T	0.23762	-1.0179	8	0.13470	T	0.59	.	.	.	.	.	487	Q5JRC9	FA47A_HUMAN	Q	487	ENSP00000345029:R487Q	ENSP00000345029:R487Q	R	-	2	0	FAM47A	34058857	0.022000	0.18835	0.006000	0.13384	0.016000	0.09150	0.010000	0.13242	0.435000	0.26365	0.183000	0.17082	CGG		0.642	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		76	299	0	0	0	1	0	76	299				
HDX	139324	broad.mit.edu	37	X	83724365	83724365	+	Silent	SNP	T	T	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:83724365T>A	ENST00000297977.5	-	3	477	c.366A>T	c.(364-366)acA>acT	p.T122T	HDX_ENST00000506585.2_Silent_p.T64T|HDX_ENST00000373177.2_Silent_p.T122T	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	122						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TATGTTTGTTTGTTCCTTGCC	0.403																																					Pancreas(53;231 1169 36156 43751 51139)	ENST00000297977.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(364-366)acA>acT		highly divergent homeobox							272.0	225.0	241.0					X																	83724365		2203	4300	6503	SO:0001819	synonymous_variant	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83724365T>A	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.366A>T	X.37:g.83724365T>A						HDX_ENST00000506585.2_Silent_p.T64T|HDX_ENST00000373177.2_Silent_p.T122T	p.T122T	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN			3	477	-			122					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Silent	SNP	ENST00000297977.5	37	c.366A>T	CCDS35342.1																																																																																				0.403	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		66	374	0	0	0	1	0	66	374				
BCL11A	53335	broad.mit.edu	37	2	60688782	60688782	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:60688782C>T	ENST00000335712.6	-	4	1492	c.1265G>A	c.(1264-1266)cGc>cAc	p.R422H	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.R422H|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Missense_Mutation_p.R91H|BCL11A_ENST00000538214.1_Missense_Mutation_p.R388H|BCL11A_ENST00000358510.4_Missense_Mutation_p.R388H	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	422					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|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)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CTTCATGTGGCGCTTCAGCTT	0.647			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1264-1266)cGc>cAc		B-cell CLL/lymphoma 11A (zinc finger protein)							102.0	93.0	96.0					2																	60688782		2203	4300	6503	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688782C>T	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1265G>A	2.37:g.60688782C>T	ENSP00000338774:p.Arg422His					BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Missense_Mutation_p.R91H|BCL11A_ENST00000538214.1_Missense_Mutation_p.R388H|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.R388H|BCL11A_ENST00000356842.4_Missense_Mutation_p.R422H	p.R422H	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1492	-			422					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1265G>A	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291279	0.40494	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.16743	3.17;3.17;2.32;5.19;5.19	5.27	4.37	0.52481	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.062434	0.64402	D	0.000010	T	0.41396	0.1157	M	0.73217	2.22	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.98;0.997;0.998;0.997	T	0.34153	-0.9840	10	0.56958	D	0.05	-2.2443	15.0016	0.71476	0.1436:0.8564:0.0:0.0	.	388;91;388;422;422	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	H	422;458;388;91;422;388	ENSP00000349300:R422H;ENSP00000438303:R388H;ENSP00000443712:R91H;ENSP00000338774:R422H;ENSP00000351307:R388H	ENSP00000338774:R422H	R	-	2	0	BCL11A	60542286	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	1.173000	0.42796	0.655000	0.94253	CGC		0.647	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		8	420	0	0	0	1	0	8	420				
TUBBP5	643224	broad.mit.edu	37	9	141070139	141070139	+	RNA	SNP	C	C	T	rs143443709		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr9:141070139C>T	ENST00000503395.1	+	0	1219									tubulin, beta pseudogene 5									p.L85F(2)									CGGGCAGGTCCTCAGGCCAGA	0.667																																						ENST00000503395.1																			2	Substitution - Missense(2)	p.L85F(2)	urinary_tract(1)|prostate(1)																																																0							g.chr9:141070139C>T	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.141070139C>T														0	1219	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.667	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		6	300	0	0	0	1	0	6	300				
POTEC	388468	broad.mit.edu	37	18	14542654	14542654	+	Silent	SNP	C	C	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr18:14542654C>A	ENST00000358970.5	-	1	491	c.492G>T	c.(490-492)acG>acT	p.T164T	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	164								p.T164T(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGTTCATGTCCGTGTCCCTGA	0.592																																						ENST00000358970.5																			2	Substitution - coding silent(2)	p.T164T(2)	lung(1)|kidney(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(490-492)acG>acT		POTE ankyrin domain family, member C							260.0	241.0	247.0					18																	14542654		692	1591	2283	SO:0001819	synonymous_variant	388468							g.chr18:14542654C>A	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.492G>T	18.37:g.14542654C>A						POTEC_ENST00000389891.4_5'UTR	p.T164T	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	491	-			164						Silent	SNP	ENST00000358970.5	37	c.492G>T	CCDS45835.1																																																																																				0.592	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		6	445	1	0	3.59834e-05	1	3.71878e-05	6	445				
SORBS2	8470	broad.mit.edu	37	4	186544639	186544639	+	Silent	SNP	A	A	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:186544639A>G	ENST00000284776.7	-	13	2441	c.1932T>C	c.(1930-1932)caT>caC	p.H644H	SORBS2_ENST00000355634.5_Silent_p.H744H|SORBS2_ENST00000431808.1_Silent_p.H644H|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Silent_p.H548H|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000498125.1_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_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Silent_p.H744H|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Silent_p.H644H|SORBS2_ENST00000418609.1_Silent_p.H548H|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_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	225	0	0	0	1	0	5	225				
TNR	7143	broad.mit.edu	37	1	175365862	175365862	+	Missense_Mutation	SNP	G	G	A	rs138654492		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:175365862G>A	ENST00000367674.2	-	5	1766	c.1058C>T	c.(1057-1059)aCg>aTg	p.T353M	TNR_ENST00000263525.2_Missense_Mutation_p.T353M			Q92752	TENR_HUMAN	tenascin R	353	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CACATATTCCGTCACTGCCAT	0.617																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(1057-1059)aCg>aTg		tenascin R		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	83.0	83.0	83.0		1058	6.0	1.0	1	dbSNP_134	83	0,8600		0,0,4300	no	missense	TNR	NM_003285.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	353/1359	175365862	1,13005	2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175365862G>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1058C>T	1.37:g.175365862G>A	ENSP00000356646:p.Thr353Met					TNR_ENST00000263525.2_Missense_Mutation_p.T353M	p.T353M	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			5	1766	-	Renal(580;0.146)		353			Fibronectin type-III 1.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.1058C>T	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905250	0.92035	2.27E-4	0.0	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.60171	0.21;0.21	5.96	5.96	0.96718	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.055941	0.64402	D	0.000001	T	0.77805	0.4185	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.76277	-0.3018	10	0.46703	T	0.11	.	19.9958	0.97383	0.0:0.0:1.0:0.0	.	353	Q92752	TENR_HUMAN	M	353	ENSP00000356646:T353M;ENSP00000263525:T353M	ENSP00000263525:T353M	T	-	2	0	TNR	173632485	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.328000	0.96403	2.826000	0.97356	0.655000	0.94253	ACG		0.617	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		7	531	0	0	0	1	0	7	531				
AP2B1	163	broad.mit.edu	37	17	33954713	33954713	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:33954713C>T	ENST00000262325.7	+	9	1676	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	AP2B1_ENST00000312678.8_Missense_Mutation_p.R375W|AP2B1_ENST00000592545.1_Missense_Mutation_p.R337W|AP2B1_ENST00000538556.1_Missense_Mutation_p.R318W|AP2B1_ENST00000589344.1_Missense_Mutation_p.R375W|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Missense_Mutation_p.R375W	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	375					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AAAAGCTGTGCGGGCCATTGG	0.438																																						ENST00000262325.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1123-1125)Cgg>Tgg		adaptor-related protein complex 2, beta 1 subunit							119.0	110.0	113.0					17																	33954713		2203	4300	6503	SO:0001583	missense	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:33954713C>T	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.1123C>T	17.37:g.33954713C>T	ENSP00000262325:p.Arg375Trp					AP2B1_ENST00000589344.1_Missense_Mutation_p.R375W|AP2B1_ENST00000538556.1_Missense_Mutation_p.R318W|AP2B1_ENST00000537622.2_Missense_Mutation_p.R375W|AP2B1_ENST00000312678.8_Missense_Mutation_p.R375W|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000592545.1_Missense_Mutation_p.R337W	p.R375W	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	9	1676	+		Ovarian(249;0.17)	375					A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	c.1123C>T	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483673	0.63962	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	5.74	2.04	0.26737	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67420	0.2891	H	0.97158	3.95	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;1.0;0.996	T	0.77787	-0.2457	10	0.87932	D	0	-0.402	14.3775	0.66889	0.4861:0.5139:0.0:0.0	.	112;337;375;375	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	W	375;375;318;375;112	ENSP00000262325:R375W;ENSP00000314414:R375W;ENSP00000440563:R318W;ENSP00000437413:R375W	ENSP00000262325:R375W	R	+	1	2	AP2B1	30978826	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	1.241000	0.32743	0.128000	0.18479	-1.036000	0.02392	CGG		0.438	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			4	278	0	0	0	1	0	4	278				
MAGI2	9863	broad.mit.edu	37	7	77885649	77885649	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:77885649C>T	ENST00000354212.4	-	10	1911	c.1658G>A	c.(1657-1659)cGg>cAg	p.R553Q	MAGI2_ENST00000535697.1_Missense_Mutation_p.R390Q|MAGI2_ENST00000419488.1_Missense_Mutation_p.R553Q|MAGI2_ENST00000522391.1_Missense_Mutation_p.R553Q|MAGI2_ENST00000536571.1_Missense_Mutation_p.R385Q	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	553					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTGTGAGGTCCGAGAAATGTA	0.512																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(1657-1659)cGg>cAg		membrane associated guanylate kinase, WW and PDZ domain containing 2							124.0	100.0	109.0					7																	77885649		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77885649C>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1658G>A	7.37:g.77885649C>T	ENSP00000346151:p.Arg553Gln					MAGI2_ENST00000536571.1_Missense_Mutation_p.R385Q|MAGI2_ENST00000522391.1_Missense_Mutation_p.R553Q|MAGI2_ENST00000535697.1_Missense_Mutation_p.R390Q|MAGI2_ENST00000419488.1_Missense_Mutation_p.R553Q	p.R553Q	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			10	1911	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	553					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.1658G>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488783	0.44249	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.10382	2.97;2.98;2.88;3.82;3.83	5.94	5.06	0.68205	.	0.000000	0.33253	U	0.005115	T	0.12220	0.0297	N	0.16790	0.44	0.49130	D	0.999757	D;B;D;D;B;D	0.76494	0.988;0.145;0.998;0.998;0.376;0.999	P;B;P;P;B;P	0.55011	0.507;0.018;0.652;0.652;0.068;0.766	T	0.23940	-1.0174	10	0.11485	T	0.65	.	14.5211	0.67851	0.0:0.9297:0.0:0.0703	.	390;385;553;553;553;553	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	Q	553;553;553;553;385;390	ENSP00000405766:R553Q;ENSP00000346151:R553Q;ENSP00000428389:R553Q;ENSP00000441584:R385Q;ENSP00000441603:R390Q	ENSP00000346151:R553Q	R	-	2	0	MAGI2	77723585	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.243000	0.51392	1.519000	0.48950	0.561000	0.74099	CGG		0.512	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		38	163	0	0	0	1	0	38	163				
PTPRD	5789	broad.mit.edu	37	9	8633320	8633320	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr9:8633320G>A	ENST00000381196.4	-	11	892	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	PTPRD_ENST00000537002.1_Missense_Mutation_p.R117W|PTPRD_ENST00000360074.4_Missense_Mutation_p.R117W|PTPRD_ENST00000358503.5_Missense_Mutation_p.R117W|PTPRD_ENST00000355233.5_Missense_Mutation_p.R117W|PTPRD_ENST00000486161.1_Missense_Mutation_p.R117W|PTPRD_ENST00000397617.3_Missense_Mutation_p.R117W|PTPRD_ENST00000540109.1_Missense_Mutation_p.R117W|PTPRD_ENST00000397611.3_Missense_Mutation_p.R117W|PTPRD_ENST00000356435.5_Missense_Mutation_p.R117W|PTPRD_ENST00000397606.3_Missense_Mutation_p.R117W|PTPRD_ENST00000463477.1_Missense_Mutation_p.R117W	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	117					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CACTTACCCCGCAAAACTGTG	0.418										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(349-351)Cgg>Tgg		protein tyrosine phosphatase, receptor type, D							195.0	157.0	170.0					9																	8633320		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8633320G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.349C>T	9.37:g.8633320G>A	ENSP00000370593:p.Arg117Trp	TSP Lung(15;0.13)				PTPRD_ENST00000358503.5_Missense_Mutation_p.R117W|PTPRD_ENST00000486161.1_Missense_Mutation_p.R117W|PTPRD_ENST00000356435.5_Missense_Mutation_p.R117W|PTPRD_ENST00000397606.3_Missense_Mutation_p.R117W|PTPRD_ENST00000397617.3_Missense_Mutation_p.R117W|PTPRD_ENST00000397611.3_Missense_Mutation_p.R117W|PTPRD_ENST00000463477.1_Missense_Mutation_p.R117W|PTPRD_ENST00000355233.5_Missense_Mutation_p.R117W|PTPRD_ENST00000537002.1_Missense_Mutation_p.R117W|PTPRD_ENST00000540109.1_Missense_Mutation_p.R117W|PTPRD_ENST00000360074.4_Missense_Mutation_p.R117W	p.R117W	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	11	892	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	117					B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.349C>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454414	0.84209	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477	T;T;T;T;T;T;T;T;T;T;T;T	0.71341	0.52;0.52;0.56;0.61;0.7;0.82;0.58;0.48;0.52;0.7;0.81;-0.56	6.05	6.05	0.98169	.	0.126553	0.50627	D	0.000105	D	0.82995	0.5158	M	0.76002	2.32	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.997;0.999;0.999;1.0;0.999;1.0;0.999;0.997	D;P;P;P;P;D;D;P;P;P	0.71414	0.973;0.878;0.827;0.827;0.827;0.911;0.943;0.897;0.849;0.685	T	0.82516	-0.0418	9	.	.	.	.	15.3312	0.74212	0.0:0.0:0.8603:0.1397	.	117;117;117;117;117;117;117;117;117;117	C9J8S8;Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;.;PTPRD_HUMAN	W	117	ENSP00000370593:R117W;ENSP00000348812:R117W;ENSP00000353187:R117W;ENSP00000351293:R117W;ENSP00000347373:R117W;ENSP00000380741:R117W;ENSP00000380735:R117W;ENSP00000440515:R117W;ENSP00000438164:R117W;ENSP00000417093:R117W;ENSP00000380731:R117W;ENSP00000417661:R117W	.	R	-	1	2	PTPRD	8623320	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.534000	0.60622	2.871000	0.98454	0.637000	0.83480	CGG		0.418	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			6	393	0	0	0	1	0	6	393				
DOCK3	1795	broad.mit.edu	37	3	51378785	51378785	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:51378785G>A	ENST00000266037.9	+	38	3907	c.3884G>A	c.(3883-3885)cGg>cAg	p.R1295Q		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1295	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GGACTGTGCCGGAAGATCATT	0.532																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(3883-3885)cGg>cAg		dedicator of cytokinesis 3							60.0	64.0	63.0					3																	51378785		2086	4222	6308	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51378785G>A	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.3884G>A	3.37:g.51378785G>A	ENSP00000266037:p.Arg1295Gln						p.R1295Q	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	38	3907	+			1295			DHR-2.		O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.3884G>A	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977405	0.53720	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.04603	3.59	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.08891	0.0220	N	0.20766	0.605	0.58432	D	0.999999	D	0.67145	0.996	P	0.55087	0.768	T	0.47032	-0.9148	10	0.28530	T	0.3	.	19.4028	0.94637	0.0:0.0:1.0:0.0	.	1295	Q8IZD9	DOCK3_HUMAN	Q	1295;91	ENSP00000266037:R1295Q	ENSP00000266037:R1295Q	R	+	2	0	DOCK3	51353825	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.863000	0.87023	2.574000	0.86865	0.655000	0.94253	CGG		0.532	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		5	116	0	0	0	1	0	5	116				
COL14A1	7373	broad.mit.edu	37	8	121160087	121160087	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr8:121160087G>T	ENST00000297848.3	+	2	276	c.6G>T	c.(4-6)aaG>aaT	p.K2N	COL14A1_ENST00000247781.3_Missense_Mutation_p.K2N|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.K2N|COL14A1_ENST00000537875.1_Missense_Mutation_p.K2N	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ATAAAATGAAGATTTTCCAGC	0.383																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(4-6)aaG>aaT		collagen, type XIV, alpha 1							95.0	89.0	91.0					8																	121160087		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121160087G>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.6G>T	8.37:g.121160087G>T	ENSP00000297848:p.Lys2Asn					COL14A1_ENST00000247781.3_Missense_Mutation_p.K2N|COL14A1_ENST00000309791.4_Missense_Mutation_p.K2N|COL14A1_ENST00000537875.1_Missense_Mutation_p.K2N|COL14A1_ENST00000432943.2_3'UTR	p.K2N	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		2	276	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		2						Missense_Mutation	SNP	ENST00000297848.3	37	c.6G>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.697656	0.30142	.	.	ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781	T;D;D;D	0.87966	0.45;-2.14;-2.16;-2.32	5.92	5.92	0.95590	.	0.536026	0.19314	N	0.117330	T	0.78214	0.4248	N	0.14661	0.345	0.26614	N	0.972785	B	0.19583	0.037	B	0.17098	0.017	T	0.64296	-0.6441	10	0.27082	T	0.32	.	15.8249	0.78690	0.0:0.0:1.0:0.0	.	2	Q05707	COEA1_HUMAN	N	2	ENSP00000443974:K2N;ENSP00000311809:K2N;ENSP00000297848:K2N;ENSP00000247781:K2N	ENSP00000247781:K2N	K	+	3	2	COL14A1	121229268	1.000000	0.71417	0.513000	0.27749	0.105000	0.19272	2.807000	0.47955	2.818000	0.97014	0.655000	0.94253	AAG		0.383	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		26	223	1	0	3.73988e-18	1	3.98169e-18	26	223				
IGSF21	84966	broad.mit.edu	37	1	18692048	18692048	+	Missense_Mutation	SNP	G	G	A	rs149943630		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:18692048G>A	ENST00000251296.1	+	6	1255	c.872G>A	c.(871-873)cGc>cAc	p.R291H		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	291						extracellular region (GO:0005576)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CGCCACAGCCGCACCCCGAGC	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		19244	0.001		0.0	False		,,,				2504	0.0					ENST00000251296.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40						c.(871-873)cGc>cAc		immunoglobin superfamily, member 21		G	HIS/ARG	0,4406		0,0,2203	108.0	98.0	102.0		872	-0.3	1.0	1	dbSNP_134	102	2,8598	2.2+/-6.3	0,2,4298	yes	missense	IGSF21	NM_032880.4	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	291/468	18692048	2,13004	2203	4300	6503	SO:0001583	missense	84966					extracellular region		g.chr1:18692048G>A	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.872G>A	1.37:g.18692048G>A	ENSP00000251296:p.Arg291His						p.R291H	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	6	1255	+		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	291					Q8NBR8	Missense_Mutation	SNP	ENST00000251296.1	37	c.872G>A	CCDS184.1	.	.	.	.	.	.	.	.	.	.	G	6.571	0.473759	0.12521	0.0	2.33E-4	ENSG00000117154	ENST00000251296	T	0.52526	0.66	4.28	-0.3	0.12804	.	0.378221	0.31233	N	0.008016	T	0.15998	0.0385	N	0.01576	-0.805	0.27573	N	0.949829	B	0.02656	0.0	B	0.01281	0.0	T	0.26121	-1.0112	10	0.17832	T	0.49	-11.9272	8.3841	0.32491	0.5998:0.0:0.4002:0.0	.	291	Q96ID5	IGS21_HUMAN	H	291	ENSP00000251296:R291H	ENSP00000251296:R291H	R	+	2	0	IGSF21	18564635	0.997000	0.39634	0.989000	0.46669	0.994000	0.84299	2.560000	0.45896	0.064000	0.16427	0.561000	0.74099	CGC		0.632	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		5	304	0	0	0	1	0	5	304				
PIK3R5	23533	broad.mit.edu	37	17	8791989	8791989	+	Missense_Mutation	SNP	G	G	C	rs201413001		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:8791989G>C	ENST00000447110.1	-	10	1239	c.1115C>G	c.(1114-1116)tCg>tGg	p.S372W	PIK3R5_ENST00000584803.1_Missense_Mutation_p.S372W|PIK3R5_ENST00000581552.1_Missense_Mutation_p.S372W	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	372					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CAGATGGCGCGAGAGGGCCGG	0.632																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(1114-1116)tCg>tGg		phosphoinositide-3-kinase, regulatory subunit 5							63.0	67.0	65.0					17																	8791989		2203	4300	6503	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8791989G>C	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1115C>G	17.37:g.8791989G>C	ENSP00000392812:p.Ser372Trp					PIK3R5_ENST00000584803.1_Missense_Mutation_p.S372W|PIK3R5_ENST00000581552.1_Missense_Mutation_p.S372W	p.S372W	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			10	1239	-			372					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.1115C>G	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	G	4.122	0.020770	0.08006	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.80304	-1.36	5.51	4.53	0.55603	.	0.440169	0.25296	N	0.031685	T	0.81664	0.4870	N	0.24115	0.695	0.48452	D	0.99965	D	0.61697	0.99	P	0.61275	0.886	D	0.84368	0.0542	10	0.87932	D	0	-10.1214	15.3433	0.74314	0.0:0.0:0.8589:0.141	.	372	Q8WYR1	PI3R5_HUMAN	W	372	ENSP00000392812:S372W	ENSP00000269300:S372W	S	-	2	0	PIK3R5	8732714	0.943000	0.32029	0.003000	0.11579	0.023000	0.10783	2.226000	0.42963	1.312000	0.45043	0.650000	0.86243	TCG		0.632	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		18	119	0	0	0	1	0	18	119				
DIO3	1735	broad.mit.edu	37	14	102028119	102028119	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr14:102028119G>A	ENST00000510508.4	+	1	432	c.286G>A	c.(286-288)Gat>Aat	p.D96N	DIO3OS_ENST00000408206.1_lincRNA|DIO3_ENST00000359323.3_Missense_Mutation_p.D70N			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	96					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				GGTGCCTCCCGATGACCCGCC	0.642																																						ENST00000359323.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22						c.(208-210)Gat>Aat		deiodinase, iodothyronine, type III							42.0	48.0	46.0					14																	102028119		1996	4141	6137	SO:0001583	missense	1735				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	g.chr14:102028119G>A	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.286G>A	14.37:g.102028119G>A	ENSP00000427336:p.Asp96Asn					DIO3_ENST00000510508.4_Missense_Mutation_p.D96N	p.D70N	NM_001362.3	NP_001353.4	P55073	IOD3_HUMAN			1	432	+		all_neural(303;0.185)	70					G3XAM0|Q8WVN5	Missense_Mutation	SNP	ENST00000510508.4	37	c.208G>A	CCDS41992.2	.	.	.	.	.	.	.	.	.	.	g	18.36	3.607744	0.66558	.	.	ENSG00000197406;ENSG00000258865	ENST00000359323;ENST00000510508	T;T	0.35236	1.37;1.32	3.21	3.21	0.36854	.	0.000000	0.40302	U	0.001121	T	0.54565	0.1866	M	0.80028	2.48	0.28273	N	0.924327	D	0.89917	1.0	D	0.70227	0.968	T	0.46679	-0.9174	10	0.34782	T	0.22	.	7.8692	0.29556	0.124:0.0:0.876:0.0	.	70	P55073	IOD3_HUMAN	N	70;96	ENSP00000352273:D70N;ENSP00000427336:D96N	ENSP00000352273:D96N	D	+	1	0	DIO3;AL049836.1	101097872	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	6.208000	0.72165	1.608000	0.50180	0.457000	0.33378	GAT		0.642	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		53	268	0	0	0	1	0	53	268				
BAHCC1	57597	broad.mit.edu	37	17	79412086	79412086	+	Missense_Mutation	SNP	G	G	A	rs553180909		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:79412086G>A	ENST00000307745.7	+	13	2717	c.2717G>A	c.(2716-2718)gGc>gAc	p.G906D																								ATGTACGGGGGCCGGGGCCCC	0.706																																						ENST00000307745.7																			0											c.(2716-2718)gGc>gAc									6.0	7.0	7.0					17																	79412086		1924	4058	5982	SO:0001583	missense	0							g.chr17:79412086G>A																												ENST00000307745.7:c.2717G>A	17.37:g.79412086G>A	ENSP00000303486:p.Gly906Asp						p.G906D							13	2717	+									Missense_Mutation	SNP	ENST00000307745.7	37	c.2717G>A		.	.	.	.	.	.	.	.	.	.	G	15.70	2.910760	0.52439	.	.	ENSG00000171282	ENST00000307745	T	0.15603	2.41	4.41	2.27	0.28462	.	0.556047	0.14981	N	0.287278	T	0.21103	0.0508	L	0.59436	1.845	0.25576	N	0.98684	P;P	0.44429	0.808;0.835	B;B	0.41894	0.231;0.369	T	0.06789	-1.0807	10	0.72032	D	0.01	.	13.4604	0.61223	0.0:0.313:0.687:0.0	.	906;906	Q9P281;F8WBW8	BAHC1_HUMAN;.	D	906	ENSP00000303486:G906D	ENSP00000303486:G906D	G	+	2	0	AC110285.1	77026681	0.917000	0.31117	0.997000	0.53966	0.907000	0.53573	1.436000	0.34980	0.400000	0.25396	0.430000	0.28490	GGC		0.706	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				32	56	0	0	0	1	0	32	56				
PRAMEF3	401940	broad.mit.edu	37	1	13330615	13330615	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:13330615A>G	ENST00000353410.5	-	2	691	c.665T>C	c.(664-666)gTa>gCa	p.V222A	PRAMEF3_ENST00000376173.3_Missense_Mutation_p.V224A			Q5TYW8	PRAM3_HUMAN	PRAME family member 3	222					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					ovary(1)	1	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GATAAACTCTACTATCATACA	0.423																																						ENST00000376173.3																			0				ovary(1)	1						c.(670-672)gTa>gCa		PRAME family member 3							112.0	72.0	90.0					1																	13330615		1378	1647	3025	SO:0001583	missense	401940							g.chr1:13330615A>G			1p36.21	2013-01-17			ENSG00000204503			"""-"""	14087	protein-coding gene	gene with protein product							Standard			Approved		uc001aut.1	Q5TYW8	OTTHUMG00000009404	ENST00000353410.5:c.665T>C	1.37:g.13330615A>G	ENSP00000334892:p.Val222Ala					PRAMEF3_ENST00000353410.5_Missense_Mutation_p.V222A	p.V224A	NM_001013692.1	NP_001013714.3				UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	691	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)							Missense_Mutation	SNP	ENST00000353410.5	37	c.671T>C		.	.	.	.	.	.	.	.	.	.	.	0.003	-2.515063	0.00151	.	.	ENSG00000204503	ENST00000353410;ENST00000376173	T;T	0.15372	2.43;2.43	1.32	-2.63	0.06133	.	0.521004	0.18063	N	0.152879	T	0.03390	0.0098	N	0.02142	-0.665	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31081	-0.9956	10	0.02654	T	1	.	2.6954	0.05133	0.366:0.2703:0.3637:0.0	.	222	Q5TYW8	PRAM3_HUMAN	A	222;224	ENSP00000334892:V222A;ENSP00000365343:V224A	ENSP00000334892:V222A	V	-	2	0	PRAMEF3	13203202	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.250000	0.02885	-0.924000	0.03780	0.136000	0.15936	GTA		0.423	PRAMEF3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000026088.1	NM_001013692		8	1023	0	0	0	1	0	8	1023				
ZNF423	23090	broad.mit.edu	37	16	49671084	49671084	+	Missense_Mutation	SNP	C	C	T	rs200218868		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr16:49671084C>T	ENST00000561648.1	-	4	2032	c.1979G>A	c.(1978-1980)cGg>cAg	p.R660Q	ZNF423_ENST00000563137.2_Missense_Mutation_p.R600Q|ZNF423_ENST00000535559.1_Missense_Mutation_p.R543Q|ZNF423_ENST00000562871.1_Missense_Mutation_p.R600Q|ZNF423_ENST00000562520.1_Missense_Mutation_p.R600Q|ZNF423_ENST00000262383.2_Missense_Mutation_p.R660Q|ZNF423_ENST00000567169.1_Missense_Mutation_p.R543Q	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	660					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CGCTTGCTTCCGCAGCAGCAG	0.552																																						ENST00000561648.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(1978-1980)cGg>cAg		zinc finger protein 423							47.0	47.0	47.0					16																	49671084		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49671084C>T	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1979G>A	16.37:g.49671084C>T	ENSP00000455426:p.Arg660Gln					ZNF423_ENST00000262383.2_Missense_Mutation_p.R660Q|ZNF423_ENST00000535559.1_Missense_Mutation_p.R543Q|ZNF423_ENST00000562871.1_Missense_Mutation_p.R600Q|ZNF423_ENST00000562520.1_Missense_Mutation_p.R600Q|ZNF423_ENST00000563137.2_Missense_Mutation_p.R600Q|ZNF423_ENST00000567169.1_Missense_Mutation_p.R543Q	p.R660Q	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	2032	-		all_cancers(37;0.0155)	660					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.1979G>A	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225160	0.58668	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.30714	1.52;1.52	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.27313	0.0670	L	0.42529	1.33	0.48830	D	0.999718	B	0.29862	0.259	B	0.23150	0.044	T	0.04454	-1.0950	9	.	.	.	.	18.0121	0.89227	0.0:1.0:0.0:0.0	.	660	Q2M1K9	ZN423_HUMAN	Q	660;543	ENSP00000262383:R660Q;ENSP00000442321:R543Q	.	R	-	2	0	ZNF423	48228585	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.679000	0.61649	2.250000	0.74265	0.462000	0.41574	CGG		0.552	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		37	174	0	0	0	1	0	37	174				
NR0B1	190	broad.mit.edu	37	X	30326930	30326930	+	Missense_Mutation	SNP	T	T	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:30326930T>G	ENST00000378970.4	-	1	785	c.551A>C	c.(550-552)aAa>aCa	p.K184T	NR0B1_ENST00000378963.1_5'Flank|NR0B1_ENST00000453287.1_Missense_Mutation_p.K184T	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	184	4 X 67 AA tandem repeats.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	TAGCGCCTCTTTACCCCCTGG	0.692											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378970.4																			0				central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24						c.(550-552)aAa>aCa		nuclear receptor subfamily 0, group B, member 1	Dexamethasone(DB01234)|Tretinoin(DB00755)						11.0	9.0	10.0					X																	30326930		2189	4273	6462	SO:0001583	missense	190				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	g.chrX:30326930T>G	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"""Nuclear hormone receptors"""	7960	protein-coding gene	gene with protein product		300473	"""dosage-sensitive sex reversal"""	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.551A>C	X.37:g.30326930T>G	ENSP00000368253:p.Lys184Thr		OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	816	NR0B1_ENST00000453287.1_Missense_Mutation_p.K184T	p.K184T	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN			1	785	-			184			4 X 67 AA tandem repeats.		Q96F69	Missense_Mutation	SNP	ENST00000378970.4	37	c.551A>C	CCDS14223.1	.	.	.	.	.	.	.	.	.	.	T	2.662	-0.279477	0.05642	.	.	ENSG00000169297	ENST00000378970;ENST00000453287	D;D	0.97752	-3.63;-4.52	4.32	0.238	0.15480	.	1.525170	0.04086	N	0.310508	D	0.91597	0.7345	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	D	0.85206	0.1018	10	0.52906	T	0.07	0.6249	4.5457	0.12079	0.0:0.422:0.3572:0.2207	.	184	P51843	NR0B1_HUMAN	T	184	ENSP00000368253:K184T;ENSP00000396403:K184T	ENSP00000368253:K184T	K	-	2	0	NR0B1	30236851	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.356000	0.07661	-0.201000	0.10284	-0.402000	0.06365	AAA		0.692	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	NM_000475		14	43	0	0	0	1	0	14	43				
GLI3	2737	broad.mit.edu	37	7	42005299	42005299	+	Silent	SNP	G	G	A	rs542238121		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:42005299G>A	ENST00000395925.3	-	15	3456	c.3372C>T	c.(3370-3372)caC>caT	p.H1124H	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1124					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CACCGGGCCCGTGGGGCACTT	0.657									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				G|||	1	0.000199681	0.0	0.0	5008	,	,		15149	0.001		0.0	False		,,,				2504	0.0					ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(3370-3372)caC>caT		GLI family zinc finger 3							54.0	60.0	58.0					7																	42005299		2203	4300	6503	SO:0001819	synonymous_variant	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005299G>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3372C>T	7.37:g.42005299G>A						GLI3_ENST00000479210.1_5'UTR	p.H1124H	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			15	3456	-			1124					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	c.3372C>T	CCDS5465.1																																																																																				0.657	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		97	370	0	0	0	1	0	97	370				
GRB7	2886	broad.mit.edu	37	17	37902199	37902199	+	Missense_Mutation	SNP	G	G	A	rs149195822		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:37902199G>A	ENST00000309156.4	+	13	1561	c.1304G>A	c.(1303-1305)cGc>cAc	p.R435H	GRB7_ENST00000394204.1_Intron|GRB7_ENST00000445327.2_Missense_Mutation_p.R458H|GRB7_ENST00000394211.3_Missense_Mutation_p.R435H|GRB7_ENST00000309185.3_Intron|GRB7_ENST00000394209.2_Missense_Mutation_p.R435H	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	435	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)	p.R435H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TTCCACGGGCGCATTTCCCGT	0.622																																						ENST00000309156.4																			1	Substitution - Missense(1)	p.R435H(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1303-1305)cGc>cAc		growth factor receptor-bound protein 7		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	103.0	108.0	106.0		1304,1373,1304,1304	4.2	1.0	17	dbSNP_134	106	0,8600		0,0,4300	yes	missense,missense,missense,missense	GRB7	NM_001030002.2,NM_001242442.1,NM_001242443.1,NM_005310.3	29,29,29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	435/533,458/556,435/533,435/533	37902199	2,13004	2203	4300	6503	SO:0001583	missense	2886				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	g.chr17:37902199G>A	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.1304G>A	17.37:g.37902199G>A	ENSP00000310771:p.Arg435His					GRB7_ENST00000394204.1_Intron|GRB7_ENST00000445327.2_Missense_Mutation_p.R458H|GRB7_ENST00000394209.2_Missense_Mutation_p.R435H|GRB7_ENST00000394211.3_Missense_Mutation_p.R435H|GRB7_ENST00000309185.3_Intron	p.R435H	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		13	1561	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		435			SH2.		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	c.1304G>A	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338073	0.41398	4.54E-4	0.0	ENSG00000141738	ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	5.21	4.24	0.50183	SH2 motif (5);	0.106801	0.64402	D	0.000004	D	0.84844	0.5562	L	0.48935	1.535	0.80722	D	1	B	0.20261	0.043	B	0.25987	0.065	T	0.80926	-0.1164	10	0.51188	T	0.08	-21.3321	9.6741	0.40030	0.1692:0.0:0.8308:0.0	.	435	Q14451	GRB7_HUMAN	H	435;435;435;458	ENSP00000310771:R435H;ENSP00000377761:R435H;ENSP00000377759:R435H;ENSP00000403459:R458H	ENSP00000310771:R435H	R	+	2	0	GRB7	35155725	0.990000	0.36364	0.998000	0.56505	0.072000	0.16883	4.130000	0.57964	1.200000	0.43188	0.655000	0.94253	CGC		0.622	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		9	1011	0	0	0	1	0	9	1011				
AMZ2	51321	broad.mit.edu	37	17	66253070	66253070	+	Missense_Mutation	SNP	A	A	C			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:66253070A>C	ENST00000359904.3	+	7	2175	c.1043A>C	c.(1042-1044)aAa>aCa	p.K348T	ARSG_ENST00000448504.2_5'Flank|AMZ2_ENST00000577273.1_3'UTR|AMZ2_ENST00000577985.1_Missense_Mutation_p.K348T|AMZ2_ENST00000359783.4_Missense_Mutation_p.K290T|AMZ2_ENST00000392720.2_Missense_Mutation_p.K348T|AMZ2_ENST00000577866.1_Missense_Mutation_p.K348T|AMZ2_ENST00000580753.1_Missense_Mutation_p.K348T	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	348							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAGGAATGGAAAGAGTGGATA	0.398																																						ENST00000359904.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9						c.(1042-1044)aAa>aCa		archaelysin family metallopeptidase 2							97.0	93.0	95.0					17																	66253070		2203	4300	6503	SO:0001583	missense	51321						metallopeptidase activity|zinc ion binding	g.chr17:66253070A>C	CR609550	CCDS11674.1, CCDS32714.1	17q24.2	2010-04-08			ENSG00000196704	ENSG00000196704			28041	protein-coding gene	gene with protein product	"""archaemetzincin-2"""	615169				15972818	Standard	XM_005257436		Approved		uc002jgr.1	Q86W34		ENST00000359904.3:c.1043A>C	17.37:g.66253070A>C	ENSP00000352976:p.Lys348Thr					AMZ2_ENST00000577985.1_Missense_Mutation_p.K348T|AMZ2_ENST00000392720.2_Missense_Mutation_p.K348T|AMZ2_ENST00000580753.1_Missense_Mutation_p.K348T|AMZ2_ENST00000359783.4_Missense_Mutation_p.K290T|AMZ2_ENST00000577866.1_Missense_Mutation_p.K348T|AMZ2_ENST00000577273.1_3'UTR	p.K348T	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		7	2175	+	all_cancers(12;1.12e-09)		348					A6NLD9|B3KR44|Q5XKF1|Q9NZE2	Missense_Mutation	SNP	ENST00000359904.3	37	c.1043A>C	CCDS11674.1	.	.	.	.	.	.	.	.	.	.	A	6.893	0.534347	0.13188	.	.	ENSG00000196704	ENST00000359904;ENST00000359783;ENST00000392720	T;T;T	0.33865	1.39;1.39;1.39	3.42	-3.74	0.04385	.	0.527164	0.15835	N	0.242322	T	0.28928	0.0718	L	0.54323	1.7	0.40767	D	0.983057	B;B	0.32245	0.181;0.361	B;B	0.31686	0.134;0.134	T	0.06110	-1.0845	10	0.51188	T	0.08	-21.1054	10.9082	0.47092	0.2793:0.0:0.7207:0.0	.	290;348	A6NLD9;Q86W34	.;AMZ2_HUMAN	T	348;290;348	ENSP00000352976:K348T;ENSP00000352831:K290T;ENSP00000376481:K348T	ENSP00000352831:K290T	K	+	2	0	AMZ2	63764665	0.719000	0.27986	0.392000	0.26245	0.101000	0.19017	0.235000	0.17948	-0.834000	0.04239	-0.353000	0.07706	AAA		0.398	AMZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448261.1	NM_016627		57	417	0	0	0	1	0	57	417				
TRPV4	59341	broad.mit.edu	37	12	110221488	110221488	+	Missense_Mutation	SNP	G	G	A	rs372583866		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:110221488G>A	ENST00000418703.2	-	15	2648	c.2554C>T	c.(2554-2556)Cgc>Tgc	p.R852C	TRPV4_ENST00000537083.1_Missense_Mutation_p.R792C|TRPV4_ENST00000536838.1_Missense_Mutation_p.R818C|TRPV4_ENST00000346520.2_Missense_Mutation_p.R792C|TRPV4_ENST00000541794.1_Missense_Mutation_p.R805C|TRPV4_ENST00000544971.1_Missense_Mutation_p.R745C|TRPV4_ENST00000392719.2_Missense_Mutation_p.R805C|TRPV4_ENST00000261740.2_Missense_Mutation_p.R852C	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	852					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCATCGCAGCGGGGGTTCCCC	0.642																																						ENST00000418703.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(2554-2556)Cgc>Tgc		transient receptor potential cation channel, subfamily V, member 4		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	65.0	55.0	58.0		2413,2452,2233,2554,2374	1.7	1.0	12		58	1,8599		0,1,4299	no	missense,missense,missense,missense,missense	TRPV4	NM_001177428.1,NM_001177431.1,NM_001177433.1,NM_021625.4,NM_147204.2	180,180,180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	805/825,818/838,745/765,852/872,792/812	110221488	1,13005	2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110221488G>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.2554C>T	12.37:g.110221488G>A	ENSP00000406191:p.Arg852Cys					TRPV4_ENST00000541794.1_Missense_Mutation_p.R805C|TRPV4_ENST00000544971.1_Missense_Mutation_p.R745C|TRPV4_ENST00000346520.2_Missense_Mutation_p.R792C|TRPV4_ENST00000261740.2_Missense_Mutation_p.R852C|TRPV4_ENST00000392719.2_Missense_Mutation_p.R805C|TRPV4_ENST00000537083.1_Missense_Mutation_p.R792C|TRPV4_ENST00000536838.1_Missense_Mutation_p.R818C	p.R852C	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN			15	2648	-			852					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.2554C>T	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909237	0.33721	0.0	1.16E-4	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.29;-2.5;-2.29;-2.5;-2.29;-2.5	5.39	1.7	0.24286	.	0.722577	0.14111	N	0.340695	T	0.72028	0.3410	N	0.08118	0	0.28470	N	0.915481	P;B;P;B;B	0.41546	0.754;0.389;0.584;0.34;0.167	B;B;B;B;B	0.34722	0.188;0.083;0.13;0.097;0.123	T	0.67604	-0.5628	10	0.62326	D	0.03	-0.0455	4.314	0.10984	0.0:0.2373:0.1878:0.5749	.	792;852;745;805;818	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	C	852;852;805;792;745;792;805;818	ENSP00000406191:R852C;ENSP00000261740:R852C;ENSP00000376480:R805C;ENSP00000319003:R792C;ENSP00000443611:R745C;ENSP00000442738:R792C;ENSP00000442167:R805C;ENSP00000444336:R818C	ENSP00000261740:R852C	R	-	1	0	TRPV4	108705871	0.983000	0.35010	0.998000	0.56505	0.533000	0.34776	0.091000	0.15046	0.356000	0.24157	-0.397000	0.06425	CGC		0.642	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		34	140	0	0	0	1	0	34	140				
CLIP1	6249	broad.mit.edu	37	12	122825945	122825945	+	Silent	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:122825945G>A	ENST00000540338.1	-	10	1847	c.1806C>T	c.(1804-1806)aaC>aaT	p.N602N	CLIP1_ENST00000537178.1_Silent_p.N556N|CLIP1_ENST00000358808.2_Silent_p.N591N|CLIP1_ENST00000361654.4_Silent_p.N556N|CLIP1_ENST00000545889.1_Silent_p.N292N|CLIP1_ENST00000302528.7_Silent_p.N591N			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	602					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TCAATGACTCGTTCTCTTTGG	0.468																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1771-1773)aaC>aaT		CAP-GLY domain containing linker protein 1							140.0	131.0	134.0					12																	122825945		2203	4300	6503	SO:0001819	synonymous_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122825945G>A		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.1806C>T	12.37:g.122825945G>A						CLIP1_ENST00000361654.4_Silent_p.N556N|CLIP1_ENST00000302528.7_Silent_p.N591N|CLIP1_ENST00000540338.1_Silent_p.N602N|CLIP1_ENST00000545889.1_Silent_p.N292N|CLIP1_ENST00000537178.1_Silent_p.N556N	p.N591N	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	10	1927	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		602					A0AVD3|Q17RS4|Q29RG0	Silent	SNP	ENST00000540338.1	37	c.1773C>T	CCDS58285.1																																																																																				0.468	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		103	601	0	0	0	1	0	103	601				
PCLO	27445	broad.mit.edu	37	7	82784471	82784471	+	Missense_Mutation	SNP	A	A	G	rs199515717		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:82784471A>G	ENST00000333891.9	-	2	1823	c.1486T>C	c.(1486-1488)Tca>Cca	p.S496P	PCLO_ENST00000423517.2_Missense_Mutation_p.S496P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.S496P(6)|p.?(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTTTGCTGAGCCAGGCTGT	0.607																																						ENST00000423517.2																			9	Substitution - Missense(6)|Unknown(3)	p.S496P(6)|p.?(3)	kidney(6)|prostate(3)	breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(1486-1488)Tca>Cca		piccolo presynaptic cytomatrix protein		A	PRO/SER,PRO/SER	0,3888		0,0,1944	89.0	98.0	95.0		1486,1486	-0.1	0.0	7		95	1,8267		0,1,4133	no	missense,missense	PCLO	NM_014510.2,NM_033026.5	74,74	0,1,6077	GG,GA,AA		0.0121,0.0,0.0082	benign,benign	496/4936,496/5143	82784471	1,12155	1944	4134	6078	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784471A>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1486T>C	7.37:g.82784471A>G	ENSP00000334319:p.Ser496Pro					PCLO_ENST00000333891.8_Missense_Mutation_p.S496P	p.S496P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			2	1823	-			442			10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.1486T>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	A	0.210	-1.037056	0.02013	0.0	1.21E-4	ENSG00000186472	ENST00000333891;ENST00000423517	T;T	0.15372	2.43;2.44	4.64	-0.0778	0.13717	.	.	.	.	.	T	0.04679	0.0127	N	0.00538	-1.39	0.22066	N	0.999381	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37009	-0.9724	9	0.87932	D	0	.	7.1447	0.25577	0.2775:0.116:0.6065:0.0	.	496;496	Q9Y6V0-5;Q9Y6V0-6	.;.	P	496	ENSP00000334319:S496P;ENSP00000388393:S496P	ENSP00000334319:S496P	S	-	1	0	PCLO	82622407	0.659000	0.27411	0.005000	0.12908	0.207000	0.24258	2.928000	0.48908	0.094000	0.17404	-0.379000	0.06801	TCA		0.607	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		18	634	0	0	0	1	0	18	634				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		5	259	0	0	0	1	0	5	259				
TCERG1	10915	broad.mit.edu	37	5	145886749	145886749	+	Silent	SNP	A	A	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr5:145886749A>G	ENST00000296702.5	+	19	2927	c.2889A>G	c.(2887-2889)caA>caG	p.Q963Q	TCERG1_ENST00000394421.2_Silent_p.Q942Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	963	FF 5.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTTTAGGCAACTTCTGGATG	0.338																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(2887-2889)caA>caG		transcription elongation regulator 1							78.0	83.0	81.0					5																	145886749		2203	4300	6503	SO:0001819	synonymous_variant	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145886749A>G	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.2889A>G	5.37:g.145886749A>G						TCERG1_ENST00000394421.2_Silent_p.Q942Q	p.Q963Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		19	2927	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	963			FF 5.		Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	c.2889A>G	CCDS4282.1																																																																																				0.338	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		72	264	0	0	0	1	0	72	264				
JPH4	84502	broad.mit.edu	37	14	24040339	24040339	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr14:24040339C>A	ENST00000397118.3	-	6	2503	c.1601G>T	c.(1600-1602)gGc>gTc	p.G534V	JPH4_ENST00000544177.1_Missense_Mutation_p.G199V|JPH4_ENST00000356300.4_Missense_Mutation_p.G534V	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	534					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GTCGCTGCAGCCTCCGAGGAG	0.667																																						ENST00000397118.3																			0				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1600-1602)gGc>gTc		junctophilin 4							133.0	139.0	137.0					14																	24040339		2203	4300	6503	SO:0001583	missense	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24040339C>A	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1601G>T	14.37:g.24040339C>A	ENSP00000380307:p.Gly534Val					JPH4_ENST00000544177.1_Missense_Mutation_p.G199V|JPH4_ENST00000356300.4_Missense_Mutation_p.G534V	p.G534V	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	6	2503	-	all_cancers(95;0.000251)		534					D3DS53|Q8ND44|Q96DQ0	Missense_Mutation	SNP	ENST00000397118.3	37	c.1601G>T	CCDS9603.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360244	0.61403	.	.	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407;ENST00000544177	T;T;T	0.58797	0.31;0.31;0.49	5.08	4.18	0.49190	.	0.000000	0.30620	U	0.009234	T	0.47078	0.1426	N	0.24115	0.695	0.54753	D	0.99998	P;P	0.44241	0.733;0.829	P;B	0.44811	0.461;0.272	T	0.37842	-0.9688	10	0.29301	T	0.29	.	13.4287	0.61042	0.0:0.8261:0.1739:0.0	.	199;534	F5H1L9;Q96JJ6	.;JPH4_HUMAN	V	534;534;534;535;199	ENSP00000348648:G534V;ENSP00000380307:G534V;ENSP00000439562:G199V	ENSP00000267407:G535V	G	-	2	0	JPH4	23110179	1.000000	0.71417	0.996000	0.52242	0.945000	0.59286	2.118000	0.41949	1.246000	0.43901	-0.211000	0.12701	GGC		0.667	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		10	948	1	0	7.48243e-07	1	7.76538e-07	10	948				
AKAP8L	26993	broad.mit.edu	37	19	15512085	15512085	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:15512085C>T	ENST00000397410.5	-	5	822	c.692G>A	c.(691-693)gGc>gAc	p.G231D	AKAP8L_ENST00000595465.2_Missense_Mutation_p.G170D|AKAP8L_ENST00000595879.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	231						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CTGGAACATGCCGTACTCGGG	0.657																																						ENST00000397410.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(691-693)gGc>gAc		A kinase (PRKA) anchor protein 8-like							67.0	78.0	75.0					19																	15512085		1953	4150	6103	SO:0001583	missense	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15512085C>T	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.692G>A	19.37:g.15512085C>T	ENSP00000380557:p.Gly231Asp					AKAP8L_ENST00000595465.1_Missense_Mutation_p.G170D|AKAP8L_ENST00000595136.1_5'UTR	p.G231D	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN			5	756	-			231					B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	37	c.692G>A	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614850	0.46631	.	.	ENSG00000011243	ENST00000397410	T	0.58797	0.31	4.78	4.78	0.61160	.	0.279153	0.33401	N	0.004959	T	0.51312	0.1667	L	0.49778	1.585	0.37846	D	0.929235	B;B;B;B	0.32245	0.111;0.361;0.357;0.111	B;B;B;B	0.36289	0.053;0.176;0.221;0.053	T	0.57112	-0.7867	10	0.41790	T	0.15	-7.0541	9.0984	0.36653	0.0:0.8992:0.0:0.1008	.	170;1;231;231	B4DJ74;Q9UF73;B3KMD4;Q9ULX6	.;.;.;AKP8L_HUMAN	D	231	ENSP00000380557:G231D	ENSP00000380557:G231D	G	-	2	0	AKAP8L	15373085	0.996000	0.38824	0.985000	0.45067	0.927000	0.56198	3.418000	0.52721	2.206000	0.71126	0.591000	0.81541	GGC		0.657	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371		6	598	0	0	0	1	0	6	598				
WASH3P	374666	broad.mit.edu	37	15	102516511	102516511	+	RNA	SNP	C	C	T	rs28450830		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr15:102516511C>T	ENST00000557932.1	+	0	1459				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						AGACTTGGGCCGTTGCTCTGA	0.627																																						ENST00000557932.1																			0				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102516511C>T			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102516511C>T														0	1459	+									RNA	SNP	ENST00000557932.1	37																																																																																						0.627	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		5	180	0	0	0	1	0	5	180				
PLEKHG2	64857	broad.mit.edu	37	19	39914871	39914871	+	Nonsense_Mutation	SNP	C	C	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:39914871C>G	ENST00000409794.3	+	19	3948	c.3098C>G	c.(3097-3099)tCa>tGa	p.S1033*	PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Nonsense_Mutation_p.S974*|PLEKHG2_ENST00000425673.1_Nonsense_Mutation_p.S1004*|PLEKHG2_ENST00000409797.2_Intron|CTB-60E11.4_ENST00000601124.1_lincRNA	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1033					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTCACAGTTTCAGTCACCACC	0.547																																						ENST00000425673.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(3010-3012)tCa>tGa		pleckstrin homology domain containing, family G (with RhoGef domain) member 2							126.0	115.0	119.0					19																	39914871		2203	4300	6503	SO:0001587	stop_gained	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39914871C>G	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.3098C>G	19.37:g.39914871C>G	ENSP00000386733:p.Ser1033*					PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000458508.2_Nonsense_Mutation_p.S974*|PLEKHG2_ENST00000409794.3_Nonsense_Mutation_p.S1033*|PLEKHG2_ENST00000378550.1_Intron	p.S1004*			Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		17	3336	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		1033					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Nonsense_Mutation	SNP	ENST00000409794.3	37	c.3011C>G	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.087494|6.087494	0.97271|0.97271	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000205135|ENST00000409794;ENST00000425673;ENST00000458508	.|.	.|.	.|.	3.08|3.08	-3.41|-3.41	0.04839|0.04839	.|.	.|1.788450	.|0.03467	.|N	.|0.213043	T|.	0.31513|.	0.0799|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.26538|.	-1.0100|.	4|.	.|0.28530	.|T	.|0.3	.|.	9.007|9.007	0.36117|0.36117	0.0:0.6787:0.0:0.3213|0.0:0.6787:0.0:0.3213	.|.	.|.	.|.	.|.	E|X	901|1033;1004;974	.|.	.|ENSP00000386733:S1033X	Q|S	+|+	1|2	0|0	PLEKHG2|PLEKHG2	44606711|44606711	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.725000|0.725000	0.41563|0.41563	-0.142000|-0.142000	0.10311|0.10311	-0.739000|-0.739000	0.04809|0.04809	0.491000|0.491000	0.48974|0.48974	CAG|TCA		0.547	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		69	286	0	0	0	1	0	69	286				
HECTD4	283450	broad.mit.edu	37	12	112642326	112642326	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:112642326C>A	ENST00000430131.2	-	52	8112	c.6967G>T	c.(6967-6969)Gaa>Taa	p.E2323*	HECTD4_ENST00000377560.5_Nonsense_Mutation_p.E2573*|HECTD4_ENST00000550722.1_Nonsense_Mutation_p.E2599*			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2323					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TTGTTTGCTTCGTCTTTAATG	0.393																																						ENST00000550722.1																			0											c.(7795-7797)Gaa>Taa		HECT domain containing E3 ubiquitin protein ligase 4							95.0	95.0	95.0					12																	112642326		1896	4103	5999	SO:0001587	stop_gained	283450							g.chr12:112642326C>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.6967G>T	12.37:g.112642326C>A	ENSP00000404379:p.Glu2323*					HECTD4_ENST00000377560.5_Nonsense_Mutation_p.E2573*|HECTD4_ENST00000430131.2_Nonsense_Mutation_p.E2323*	p.E2599*	NM_001109662.3	NP_001103132.3					53	8190	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Nonsense_Mutation	SNP	ENST00000430131.2	37	c.7795G>T		.	.	.	.	.	.	.	.	.	.	C	36	5.857617	0.97030	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	2573;2323;2599	.	ENSP00000366783:E2573X	E	-	1	0	C12orf51	111126709	1.000000	0.71417	0.976000	0.42696	0.997000	0.91878	7.261000	0.78400	2.941000	0.99782	0.655000	0.94253	GAA		0.393	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		17	176	1	0	3.62473e-10	1	3.77767e-10	17	176				
CADM2	253559	broad.mit.edu	37	3	86010650	86010650	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:86010650G>A	ENST00000407528.2	+	7	858	c.796G>A	c.(796-798)Gga>Aga	p.G266R	CADM2_ENST00000383699.3_Missense_Mutation_p.G275R|CADM2_ENST00000405615.2_Missense_Mutation_p.G268R	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	266	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		AAAGGATGGCGGAGAATTACC	0.378																																						ENST00000383699.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38						c.(823-825)Gga>Aga		cell adhesion molecule 2							145.0	142.0	143.0					3																	86010650		2203	4300	6503	SO:0001583	missense	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:86010650G>A	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.796G>A	3.37:g.86010650G>A	ENSP00000384575:p.Gly266Arg					CADM2_ENST00000405615.2_Missense_Mutation_p.G268R|CADM2_ENST00000407528.2_Missense_Mutation_p.G266R	p.G275R	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	8	1450	+		Lung NSC(201;0.0148)	266			Ig-like C2-type 2.		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	c.823G>A	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704519	0.88924	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.65732	-0.17;-0.17;-0.17	5.31	5.31	0.75309	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.153416	0.64402	D	0.000017	T	0.70482	0.3229	L	0.33339	1.005	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.72982	0.979;0.845;0.967	T	0.65619	-0.6124	10	0.25751	T	0.34	.	19.3281	0.94270	0.0:0.0:1.0:0.0	.	268;275;266	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	R	275;266;268	ENSP00000373200:G275R;ENSP00000384575:G266R;ENSP00000384193:G268R	ENSP00000373200:G275R	G	+	1	0	CADM2	86093340	1.000000	0.71417	0.960000	0.40013	0.967000	0.64934	7.558000	0.82253	2.629000	0.89072	0.650000	0.86243	GGA		0.378	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		5	402	0	0	0	1	0	5	402				
BNIP3P1	319138	broad.mit.edu	37	14	28734026	28734026	+	RNA	SNP	G	G	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr14:28734026G>T	ENST00000550043.1	+	0	431									BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 1																		GCATTGGAGAGAAAAACAGCT	0.453																																						ENST00000550043.1																			0																																																			0							g.chr14:28734026G>T			14q12	2014-02-04	2011-03-18	2011-03-18	ENSG00000197358	ENSG00000197358			19922	pseudogene	pseudogene			"""BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene"""	BNIP3P			Standard	NG_002516		Approved				OTTHUMG00000170378		14.37:g.28734026G>T														0	431	+									RNA	SNP	ENST00000550043.1	37																																																																																						0.453	BNIP3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000408770.1			88	300	1	0	3.7744e-50	1	4.14345e-50	88	300				
MST1L	11223	broad.mit.edu	37	1	17083685	17083685	+	RNA	SNP	C	C	A	rs3197973	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:17083685C>A	ENST00000455405.2	-	0	903							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										ACTGTACTTACAAGTTTTGTC	0.403																																						ENST00000455405.2																			0																																																			0							g.chr1:17083685C>A	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17083685C>A														0	903	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37																																																																																						0.403	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		27	126	1	0	1.26612e-14	1	1.33077e-14	27	126				
COX7B2	170712	broad.mit.edu	37	4	46737152	46737152	+	Missense_Mutation	SNP	G	G	C			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:46737152G>C	ENST00000396533.1	-	4	308	c.58C>G	c.(58-60)Caa>Gaa	p.Q20E	COX7B2_ENST00000543208.1_Missense_Mutation_p.Q19E|COX7B2_ENST00000302930.5_Missense_Mutation_p.Q20E|COX7B2_ENST00000355591.3_Missense_Mutation_p.Q20E			Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2	20						integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			large_intestine(1)|lung(4)	5						GCCATGCTTTGCAGAATGCTT	0.423																																						ENST00000396533.1																			0				large_intestine(1)|lung(4)	5						c.(58-60)Caa>Gaa		cytochrome c oxidase subunit VIIb2							158.0	137.0	144.0					4																	46737152		2203	4300	6503	SO:0001583	missense	170712					integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chr4:46737152G>C	AF125109	CCDS3472.2	4p12	2011-07-04			ENSG00000170516	ENSG00000170516		"""Mitochondrial respiratory chain complex / Complex IV"""	24381	protein-coding gene	gene with protein product		609811				15623157	Standard	NM_130902		Approved		uc003gxf.3	Q8TF08	OTTHUMG00000099423	ENST00000396533.1:c.58C>G	4.37:g.46737152G>C	ENSP00000379784:p.Gln20Glu					COX7B2_ENST00000543208.1_Missense_Mutation_p.Q19E|COX7B2_ENST00000355591.3_Missense_Mutation_p.Q20E|COX7B2_ENST00000302930.5_Missense_Mutation_p.Q20E	p.Q20E			Q8TF08	CX7B2_HUMAN			4	308	-			20					Q32Q40	Missense_Mutation	SNP	ENST00000396533.1	37	c.58C>G	CCDS3472.2	.	.	.	.	.	.	.	.	.	.	G	5.784	0.329026	0.10956	.	.	ENSG00000170516	ENST00000355591;ENST00000396533;ENST00000302930;ENST00000543208;ENST00000505102	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	4.22	1.33	0.21861	.	0.393840	0.25771	N	0.028415	T	0.29256	0.0728	.	.	.	0.09310	N	1	B	0.14438	0.01	B	0.14023	0.01	T	0.24368	-1.0162	9	0.72032	D	0.01	-8.2035	6.926	0.24416	0.0:0.3509:0.4531:0.1959	.	20	Q8TF08	CX7B2_HUMAN	E	20;20;20;19;20	ENSP00000347799:Q20E;ENSP00000379784:Q20E;ENSP00000305964:Q20E;ENSP00000437439:Q19E;ENSP00000423519:Q20E	ENSP00000305964:Q20E	Q	-	1	0	COX7B2	46431909	0.003000	0.15002	0.019000	0.16419	0.193000	0.23685	1.002000	0.29796	0.255000	0.21593	0.585000	0.79938	CAA		0.423	COX7B2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313899.1	NM_130902		5	397	0	0	0	1	0	5	397				
ZNF347	84671	broad.mit.edu	37	19	53644386	53644386	+	Silent	SNP	T	T	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:53644386T>A	ENST00000334197.7	-	5	1763	c.1695A>T	c.(1693-1695)ggA>ggT	p.G565G	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000452676.2_Silent_p.G566G	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					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)		AAGGTTTTTCTCCAGTATGGA	0.408																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1696-1698)ggA>ggT		zinc finger protein 347							156.0	149.0	152.0					19																	53644386		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644386T>A	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.1695A>T	19.37:g.53644386T>A						ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000334197.7_Silent_p.G565G	p.G566G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2124	-			565					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1698A>T	CCDS33097.1																																																																																				0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		9	800	0	0	0	1	0	9	800				
FREM2	341640	broad.mit.edu	37	13	39262875	39262875	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr13:39262875C>T	ENST00000280481.7	+	1	1610	c.1394C>T	c.(1393-1395)cCg>cTg	p.P465L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	465					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P465L(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGCAGTGGTCCGCAAAACTTG	0.582																																						ENST00000280481.7																			1	Substitution - Missense(1)	p.P465L(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(1393-1395)cCg>cTg		FRAS1 related extracellular matrix protein 2							51.0	54.0	53.0					13																	39262875		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39262875C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1394C>T	13.37:g.39262875C>T	ENSP00000280481:p.Pro465Leu						p.P465L	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	1610	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	465					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.1394C>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	3.698	-0.062202	0.07317	.	.	ENSG00000150893	ENST00000280481	T	0.18174	2.23	5.6	2.0	0.26442	.	0.505278	0.18484	N	0.139857	T	0.13756	0.0333	L	0.43152	1.355	0.09310	N	0.999998	B	0.13145	0.007	B	0.06405	0.002	T	0.21621	-1.0240	10	0.34782	T	0.22	.	8.9993	0.36072	0.0:0.6923:0.0:0.3077	.	465	Q5SZK8	FREM2_HUMAN	L	465	ENSP00000280481:P465L	ENSP00000280481:P465L	P	+	2	0	FREM2	38160875	0.000000	0.05858	0.001000	0.08648	0.248000	0.25809	0.505000	0.22642	0.063000	0.16370	-1.036000	0.02392	CCG		0.582	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		24	167	0	0	0	1	0	24	167				
DOCK4	9732	broad.mit.edu	37	7	111368508	111368508	+	Missense_Mutation	SNP	C	C	T	rs374504389		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:111368508C>T	ENST00000437633.1	-	52	5979	c.5723G>A	c.(5722-5724)cGg>cAg	p.R1908Q	DOCK4_ENST00000428084.1_Missense_Mutation_p.R1917Q|DOCK4_ENST00000494651.2_Missense_Mutation_p.R791Q	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1908	Pro-rich.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CCGCAGAGTCCGCTCGTAGAC	0.731																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(5749-5751)cGg>cAg		dedicator of cytokinesis 4		C	GLN/ARG	0,4120		0,0,2060	23.0	29.0	27.0		5723	5.6	1.0	7		27	1,8365		0,1,4182	no	missense	DOCK4	NM_014705.3	43	0,1,6242	TT,TC,CC		0.012,0.0,0.0080	probably-damaging	1908/1967	111368508	1,12485	2060	4183	6243	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111368508C>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.5723G>A	7.37:g.111368508C>T	ENSP00000404179:p.Arg1908Gln					DOCK4_ENST00000494651.2_Missense_Mutation_p.R791Q|DOCK4_ENST00000437633.1_Missense_Mutation_p.R1908Q	p.R1917Q			Q8N1I0	DOCK4_HUMAN			53	6022	-		Acute lymphoblastic leukemia(1;0.0441)	1908		P -> L.	Pro-rich.		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.5750G>A	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.850010|5.850010	0.97023|0.97023	0.0|0.0	1.2E-4|1.2E-4	ENSG00000128512|ENSG00000128512	ENST00000423057;ENST00000445943|ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288	.|T;T;T	.|0.32753	.|1.44;1.44;1.44	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.53706|0.53706	0.1813|0.1813	L|L	0.57536|0.57536	1.79|1.79	0.46927|0.46927	D|D	0.999258|0.999258	.|D;P;D;D;D;D	.|0.89917	.|0.994;0.951;0.981;0.994;0.997;1.0	.|D;B;B;D;D;D	.|0.85130	.|0.921;0.404;0.391;0.921;0.964;0.997	T|T	0.40515|0.40515	-0.9559|-0.9559	5|10	.|0.33141	.|T	.|0.24	.|.	19.5919|19.5919	0.95518|0.95518	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|777;791;1953;1908;1879;221	.|B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2;Q8N1I0-4	.|.;.;.;DOCK4_HUMAN;.;.	R|Q	1331;1941|1896;1917;791;1908;1867	.|ENSP00000410746:R1917Q;ENSP00000440944:R791Q;ENSP00000404179:R1908Q	.|ENSP00000345432:R1867Q	G|R	-|-	1|2	0|0	DOCK4|DOCK4	111155744|111155744	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.513000|5.513000	0.67037|0.67037	2.640000|2.640000	0.89533|0.89533	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.731	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		62	201	0	0	0	1	0	62	201				
ITSN2	50618	broad.mit.edu	37	2	24533237	24533237	+	Missense_Mutation	SNP	C	C	T	rs550046461		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:24533237C>T	ENST00000355123.4	-	7	1012	c.569G>A	c.(568-570)gGg>gAg	p.G190E	ITSN2_ENST00000407704.1_5'Flank|ITSN2_ENST00000406921.3_Missense_Mutation_p.G190E|ITSN2_ENST00000361999.3_Missense_Mutation_p.G190E	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	190					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATAAGATGACCCATGAGGCAA	0.343													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17730	0.0		0.0	False		,,,				2504	0.0					ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(568-570)gGg>gAg		intersectin 2							191.0	202.0	198.0					2																	24533237		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24533237C>T	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.569G>A	2.37:g.24533237C>T	ENSP00000347244:p.Gly190Glu					ITSN2_ENST00000361999.3_Missense_Mutation_p.G190E|ITSN2_ENST00000406921.3_Missense_Mutation_p.G190E	p.G190E	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			7	1012	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		190					O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.569G>A	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	12.21	1.868542	0.32977	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011;ENST00000443927	T;T;T;T;T;T	0.59906	0.25;0.23;0.25;0.65;0.74;1.57	4.98	4.1	0.47936	.	0.809232	0.09677	U	0.770329	T	0.49779	0.1577	N	0.14661	0.345	0.24743	N	0.993024	B;B;B;P	0.40050	0.131;0.131;0.314;0.7	B;B;B;P	0.44477	0.028;0.028;0.041;0.451	T	0.48410	-0.9038	10	0.56958	D	0.05	.	13.9001	0.63797	0.0:0.1599:0.8401:0.0	.	190;190;190;190	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	E	190;190;190;189;190;190;176	ENSP00000354561:G190E;ENSP00000347244:G190E;ENSP00000370250:G190E;ENSP00000384499:G190E;ENSP00000391224:G190E;ENSP00000391715:G176E	ENSP00000347244:G190E	G	-	2	0	ITSN2	24386741	1.000000	0.71417	0.889000	0.34880	0.766000	0.43426	3.658000	0.54482	1.218000	0.43458	-0.499000	0.04595	GGG		0.343	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		123	842	0	0	0	1	0	123	842				
BCRP7	100133163	broad.mit.edu	37	22	18846098	18846098	+	3'UTR	SNP	G	G	A	rs9306211	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	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			4	99	0	0	0	1	0	4	99				
PLA2G12B	84647	broad.mit.edu	37	10	74701027	74701027	+	Silent	SNP	G	G	A	rs141448551		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr10:74701027G>A	ENST00000373032.3	-	3	458	c.366C>T	c.(364-366)tgC>tgT	p.C122C		NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB	122					cholesterol homeostasis (GO:0042632)|lipid catabolic process (GO:0016042)|triglyceride homeostasis (GO:0070328)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					TGTTGGCACCGCAAGTGTCAT	0.493																																						ENST00000373032.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9						c.(364-366)tgC>tgT		phospholipase A2, group XIIB		G		0,4406		0,0,2203	217.0	203.0	208.0		366	-11.0	0.1	10	dbSNP_134	208	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PLA2G12B	NM_032562.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		122/196	74701027	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84647				lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	g.chr10:74701027G>A	AF349540	CCDS7319.1	10q22.1	2008-09-19	2004-01-13	2004-01-14	ENSG00000138308	ENSG00000138308	3.1.1.4		18555	protein-coding gene	gene with protein product		611653	"""phospholipase A2, group XIII"""	PLA2G13			Standard	NM_032562		Approved		uc001jtf.1	Q9BX93	OTTHUMG00000018446	ENST00000373032.3:c.366C>T	10.37:g.74701027G>A							p.C122C	NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN			3	458	-	Prostate(51;0.0198)		122					B7ZL23|Q52LB2|Q96Q99	Silent	SNP	ENST00000373032.3	37	c.366C>T	CCDS7319.1																																																																																				0.493	PLA2G12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048598.1	NM_032562		6	657	0	0	0	1	0	6	657				
DYNC2H1	79659	broad.mit.edu	37	11	102980335	102980335	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:102980335T>C	ENST00000375735.2	+	1	176	c.32T>C	c.(31-33)cTc>cCc	p.L11P	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L11P|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.L11P	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	11	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GTTCGGAAGCTCTTCATCTTC	0.507																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(31-33)cTc>cCc		dynein, cytoplasmic 2, heavy chain 1							60.0	57.0	58.0					11																	102980335		1878	4110	5988	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:102980335T>C	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.32T>C	11.37:g.102980335T>C	ENSP00000364887:p.Leu11Pro					DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L11P|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.L11P	p.L11P	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	1	176	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	11			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.32T>C	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	T	11.60	1.686710	0.29962	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.30182	1.67;1.54;1.67	5.63	3.2	0.36748	.	0.568065	0.12492	U	0.464170	T	0.26738	0.0654	L	0.36672	1.1	0.24814	N	0.992625	B;B;B	0.29590	0.25;0.082;0.066	B;B;B	0.37091	0.241;0.05;0.079	T	0.15578	-1.0432	10	0.30854	T	0.27	.	8.7491	0.34605	0.1029:0.0:0.2424:0.6546	.	11;11;11	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	P	11	ENSP00000364887:L11P;ENSP00000334021:L11P;ENSP00000381167:L11P	ENSP00000334021:L11P	L	+	2	0	DYNC2H1	102485545	0.140000	0.22579	0.989000	0.46669	0.993000	0.82548	0.695000	0.25527	2.137000	0.66172	0.482000	0.46254	CTC		0.507	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		10	103	0	0	0	1	0	10	103				
ADAMTS15	170689	broad.mit.edu	37	11	130343367	130343367	+	Missense_Mutation	SNP	C	C	T	rs200241034		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:130343367C>T	ENST00000299164.2	+	8	2504	c.2504C>T	c.(2503-2505)cCg>cTg	p.P835L		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	835	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GTGGAGCAGCCGGACGACAGG	0.697													C|||	1	0.000199681	0.0	0.0	5008	,	,		13674	0.001		0.0	False		,,,				2504	0.0					ENST00000299164.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(2503-2505)cCg>cTg		ADAM metallopeptidase with thrombospondin type 1 motif, 15							45.0	55.0	52.0					11																	130343367		2193	4287	6480	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130343367C>T	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.2504C>T	11.37:g.130343367C>T	ENSP00000299164:p.Pro835Leu						p.P835L	NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	8	2504	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	835			Spacer.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.2504C>T	CCDS8488.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	11.83	1.754593	0.31046	.	.	ENSG00000166106	ENST00000299164	T	0.61742	0.08	5.69	4.77	0.60923	.	.	.	.	.	T	0.35393	0.0930	N	0.08118	0	0.37764	D	0.926416	B	0.25105	0.118	B	0.14578	0.011	T	0.24870	-1.0148	9	0.19147	T	0.46	.	14.1591	0.65434	0.1583:0.8417:0.0:0.0	.	835	Q8TE58	ATS15_HUMAN	L	835	ENSP00000299164:P835L	ENSP00000299164:P835L	P	+	2	0	ADAMTS15	129848577	0.000000	0.05858	0.681000	0.30009	0.939000	0.58152	1.050000	0.30404	1.373000	0.46208	0.655000	0.94253	CCG		0.697	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		111	374	0	0	0	1	0	111	374				
KPRP	448834	broad.mit.edu	37	1	152733552	152733552	+	Silent	SNP	C	C	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:152733552C>A	ENST00000606109.1	+	1	1516	c.1488C>A	c.(1486-1488)cgC>cgA	p.R496R	KPRP_ENST00000368773.1_Silent_p.R496R			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	496	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACTTGGCGCAGCCCCAGCC	0.647																																						ENST00000368773.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1486-1488)cgC>cgA		keratinocyte proline-rich protein							45.0	51.0	49.0					1																	152733552		2203	4300	6503	SO:0001819	synonymous_variant	448834					cytoplasm		g.chr1:152733552C>A	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1488C>A	1.37:g.152733552C>A						KPRP_ENST00000606109.1_Silent_p.R496R	p.R496R	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1546	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		496			Pro-rich.			Silent	SNP	ENST00000606109.1	37	c.1488C>A	CCDS30862.1																																																																																				0.647	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		9	293	1	0	0.000274275	1	0.000282275	9	293				
ENTPD2	954	broad.mit.edu	37	9	139944888	139944888	+	Missense_Mutation	SNP	A	A	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr9:139944888A>T	ENST00000355097.2	-	6	924	c.877T>A	c.(877-879)Ttc>Atc	p.F293I	ENTPD2_ENST00000312665.5_Missense_Mutation_p.F293I|ENTPD2_ENST00000460614.1_5'Flank|RP11-229P13.15_ENST00000439076.1_RNA	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	293					G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CTGCTGTTGAAGTTCTGGGGC	0.632											OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000355097.2																			0				endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12						c.(877-879)Ttc>Atc		ectonucleoside triphosphate diphosphohydrolase 2							54.0	55.0	55.0					9																	139944888		2203	4300	6503	SO:0001583	missense	954					integral to membrane	ATP binding	g.chr9:139944888A>T	U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179			3364	protein-coding gene	gene with protein product	"""CD39-like-1"", ""ecto-ATPase"""	602012		CD39L1		9271669	Standard	NM_203468		Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.877T>A	9.37:g.139944888A>T	ENSP00000347213:p.Phe293Ile		OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1652	ENTPD2_ENST00000312665.5_Missense_Mutation_p.F293I	p.F293I	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	6	924	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	293					O15464|Q5SPY6|Q5SPY7	Missense_Mutation	SNP	ENST00000355097.2	37	c.877T>A	CCDS7026.1	.	.	.	.	.	.	.	.	.	.	A	13.54	2.267428	0.40095	.	.	ENSG00000054179	ENST00000355097;ENST00000312665	T;T	0.11277	2.8;2.79	4.95	1.35	0.21983	.	0.427784	0.23684	N	0.045587	T	0.09905	0.0243	L	0.59436	1.845	0.09310	N	1	B;B	0.22541	0.058;0.071	B;B	0.24006	0.03;0.05	T	0.23261	-1.0193	10	0.42905	T	0.14	-9.6179	4.0512	0.09796	0.5803:0.0:0.262:0.1576	.	293;293	Q9Y5L3-2;Q9Y5L3	.;ENTP2_HUMAN	I	293	ENSP00000347213:F293I;ENSP00000312494:F293I	ENSP00000312494:F293I	F	-	1	0	ENTPD2	139064709	0.411000	0.25384	0.155000	0.22561	0.030000	0.12068	0.623000	0.24447	0.244000	0.21351	0.459000	0.35465	TTC		0.632	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055169.1	NM_203468		40	141	0	0	0	1	0	40	141				
KIAA1804	84451	broad.mit.edu	37	1	233507804	233507804	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:233507804G>A	ENST00000366624.3	+	6	1834	c.1573G>A	c.(1573-1575)Gtg>Atg	p.V525M	MLK4_ENST00000366623.3_Missense_Mutation_p.V525M	NM_032435.2	NP_115811.2																					CAAGATAACCGTGCAGGCCTC	0.507																																						ENST00000366624.3																			0											c.(1573-1575)Gtg>Atg									88.0	88.0	88.0					1																	233507804		2203	4300	6503	SO:0001583	missense	0							g.chr1:233507804G>A																												ENST00000366624.3:c.1573G>A	1.37:g.233507804G>A	ENSP00000355583:p.Val525Met					MLK4_ENST00000366623.3_Missense_Mutation_p.V525M	p.V525M	NM_032435.2	NP_115811.2					6	1834	+									Missense_Mutation	SNP	ENST00000366624.3	37	c.1573G>A	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879032	0.91740	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	T;T	0.13657	2.57;2.57	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000003	T	0.40886	0.1135	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.989	T	0.22173	-1.0224	10	0.54805	T	0.06	.	18.7231	0.91703	0.0:0.0:1.0:0.0	.	525;525	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	M	525	ENSP00000355582:V525M;ENSP00000355583:V525M	ENSP00000355582:V525M	V	+	1	0	RP5-862P8.2	231574427	1.000000	0.71417	0.941000	0.38009	0.997000	0.91878	9.636000	0.98440	2.654000	0.90174	0.650000	0.86243	GTG		0.507	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			92	234	0	0	0	1	0	92	234				
RFX4	5992	broad.mit.edu	37	12	107090097	107090097	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:107090097C>T	ENST00000392842.1	+	8	1120	c.706C>T	c.(706-708)Ccg>Tcg	p.P236S	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.P142S|RFX4_ENST00000357881.4_Missense_Mutation_p.P245S	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	236					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GCAAGGAATGCCGCCCCACAT	0.552																																						ENST00000392842.1																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(706-708)Ccg>Tcg		regulatory factor X, 4 (influences HLA class II expression)							133.0	114.0	121.0					12																	107090097		2203	4300	6503	SO:0001583	missense	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107090097C>T	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.706C>T	12.37:g.107090097C>T	ENSP00000376585:p.Pro236Ser					RFX4_ENST00000357881.4_Missense_Mutation_p.P245S|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.P142S	p.P236S	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN			8	1120	+			236					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	ENST00000392842.1	37	c.706C>T	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022647	0.93462	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000266774;ENST00000551640;ENST00000229387	T;T;D;T	0.85955	-0.13;-0.14;-2.05;0.79	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.91415	0.7291	L	0.60067	1.865	0.80722	D	1	D;D;D;P	0.89917	1.0;0.996;0.996;0.554	D;D;D;P	0.87578	0.998;0.991;0.991;0.449	D	0.91950	0.5570	10	0.87932	D	0	-17.054	19.3157	0.94213	0.0:1.0:0.0:0.0	.	142;245;245;236	B2RDW4;Q33E94-2;Q33E94-4;Q33E94	.;.;.;RFX4_HUMAN	S	236;245;245;181;142	ENSP00000376585:P236S;ENSP00000350552:P245S;ENSP00000448694:P181S;ENSP00000229387:P142S	ENSP00000229387:P142S	P	+	1	0	RFX4	105614227	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.380000	0.79704	2.551000	0.86045	0.655000	0.94253	CCG		0.552	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		6	417	0	0	0	1	0	6	417				
ARHGAP5	394	broad.mit.edu	37	14	32623887	32623887	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr14:32623887G>A	ENST00000345122.3	+	7	4557	c.4242G>A	c.(4240-4242)tgG>tgA	p.W1414*	ARHGAP5_ENST00000539826.2_Nonsense_Mutation_p.W1414*|ARHGAP5_ENST00000433497.1_Nonsense_Mutation_p.W153*|ARHGAP5_ENST00000556611.1_Nonsense_Mutation_p.W1413*|ARHGAP5_ENST00000396582.2_Nonsense_Mutation_p.W149*|ARHGAP5_ENST00000432921.1_Nonsense_Mutation_p.W1413*	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1414	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TCTGTTTTTGGCCAACCTTGA	0.338																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(4240-4242)tgG>tgA		Rho GTPase activating protein 5							105.0	97.0	100.0					14																	32623887		2203	4300	6503	SO:0001587	stop_gained	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32623887G>A	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.4242G>A	14.37:g.32623887G>A	ENSP00000371897:p.Trp1414*					ARHGAP5_ENST00000539826.2_Nonsense_Mutation_p.W1414*|ARHGAP5_ENST00000432921.1_Nonsense_Mutation_p.W1413*|ARHGAP5_ENST00000433497.1_Nonsense_Mutation_p.W153*|ARHGAP5_ENST00000556611.1_Nonsense_Mutation_p.W1413*|ARHGAP5_ENST00000396582.2_Nonsense_Mutation_p.W149*	p.W1414*	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	7	4557	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		1414			Rho-GAP.		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Nonsense_Mutation	SNP	ENST00000345122.3	37	c.4242G>A	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	G	45	11.775769	0.99601	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000396582;ENST00000345122;ENST00000432921;ENST00000433497	.	.	.	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.5752	0.91153	0.0:0.0:1.0:0.0	.	.	.	.	X	1413;1414;149;1414;1413;153	.	ENSP00000371897:W1414X	W	+	3	0	ARHGAP5	31693638	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.748000	0.98867	2.475000	0.83589	0.549000	0.68633	TGG		0.338	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		84	279	0	0	0	1	0	84	279				
ENTPD4	9583	broad.mit.edu	37	8	23294452	23294452	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr8:23294452C>T	ENST00000358689.4	-	10	1604	c.1369G>A	c.(1369-1371)Gca>Aca	p.A457T	ENTPD4_ENST00000356206.6_Missense_Mutation_p.A449T|ENTPD4_ENST00000417069.2_Missense_Mutation_p.A449T|ENTPD4_ENST00000521321.1_5'UTR	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	457					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GGTACCTTTGCAGCTTTAGTA	0.483																																						ENST00000358689.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(1369-1371)Gca>Aca		ectonucleoside triphosphate diphosphohydrolase 4							105.0	110.0	108.0					8																	23294452		2203	4300	6503	SO:0001583	missense	9583				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	g.chr8:23294452C>T	AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"""lysosomal apyrase-like 1"""	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.1369G>A	8.37:g.23294452C>T	ENSP00000351520:p.Ala457Thr					ENTPD4_ENST00000521321.1_5'UTR|ENTPD4_ENST00000417069.2_Missense_Mutation_p.A449T|ENTPD4_ENST00000356206.6_Missense_Mutation_p.A449T	p.A457T	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)	10	1604	-		Prostate(55;0.114)	457					D3DSS3|O15092	Missense_Mutation	SNP	ENST00000358689.4	37	c.1369G>A	CCDS6041.1	.	.	.	.	.	.	.	.	.	.	C	32	5.132882	0.94517	.	.	ENSG00000197217	ENST00000518471;ENST00000356206;ENST00000358689;ENST00000417069	T;T;T;T	0.11930	2.73;2.73;2.73;2.73	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.30759	0.0775	L	0.56340	1.77	0.80722	D	1	D;D;D	0.56521	0.976;0.97;0.976	P;P;P	0.61070	0.883;0.857;0.883	T	0.00236	-1.1891	10	0.35671	T	0.21	-17.3279	18.1443	0.89651	0.0:1.0:0.0:0.0	.	449;449;457	Q8NE73;Q9Y227-2;Q9Y227	.;.;ENTP4_HUMAN	T	52;449;457;449	ENSP00000430579:A52T;ENSP00000348536:A449T;ENSP00000351520:A457T;ENSP00000408573:A449T	ENSP00000348536:A449T	A	-	1	0	ENTPD4	23350397	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	7.818000	0.86416	2.631000	0.89168	0.462000	0.41574	GCA		0.483	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901		99	427	0	0	0	1	0	99	427				
GUCD1	83606	broad.mit.edu	37	22	24939822	24939822	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr22:24939822C>T	ENST00000407471.3	-	5	806	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	GUCD1_ENST00000490922.1_Intron|GUCD1_ENST00000402766.1_Intron|GUCD1_ENST00000447813.2_Intron|GUCD1_ENST00000404664.3_Missense_Mutation_p.A262T|GUCD1_ENST00000435822.1_Missense_Mutation_p.A206T	NM_001284251.1	NP_001271180.1	Q96NT3	GUCD1_HUMAN	guanylyl cyclase domain containing 1	206																	TCGGCATAGGCTGGGTTGTTG	0.592																																						ENST00000435822.1																			0											c.(616-618)Gcc>Acc		guanylyl cyclase domain containing 1							52.0	44.0	46.0					22																	24939822		2203	4300	6503	SO:0001583	missense	83606							g.chr22:24939822C>T	AK054681	CCDS33621.1, CCDS63426.1, CCDS63427.1, CCDS74831.1, CCDS74832.1, CCDS74833.1	22q11.2	2012-11-13	2012-11-13	2012-11-13	ENSG00000138867	ENSG00000138867			14237	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 13"""	C22orf13		12477932	Standard	XM_005261761		Approved	MGC1842, LLN4	uc003aah.2	Q96NT3	OTTHUMG00000150728	ENST00000407471.3:c.616G>A	22.37:g.24939822C>T	ENSP00000386076:p.Ala206Thr					GUCD1_ENST00000447813.2_Intron|GUCD1_ENST00000402766.1_Intron|GUCD1_ENST00000490922.1_Intron|GUCD1_ENST00000407471.3_Missense_Mutation_p.A206T|GUCD1_ENST00000404664.3_Missense_Mutation_p.A262T	p.A206T	NM_031444.2	NP_113632.2					5	940	-								B5MCB8|B5MCL7|Q96Q79|Q9BU32	Missense_Mutation	SNP	ENST00000407471.3	37	c.616G>A	CCDS33621.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.924874	0.73213	.	.	ENSG00000138867	ENST00000407471;ENST00000435822;ENST00000404664	.	.	.	4.69	4.69	0.59074	.	0.054782	0.64402	D	0.000001	T	0.77751	0.4177	M	0.81497	2.545	0.80722	D	1	D;D;P;P	0.61697	0.979;0.99;0.924;0.896	P;P;P;P	0.60236	0.652;0.871;0.784;0.673	T	0.81200	-0.1041	9	0.56958	D	0.05	-35.0815	16.9392	0.86211	0.0:1.0:0.0:0.0	.	262;270;163;206	B5MCL7;B4DH83;B4DL90;Q96NT3	.;.;.;CV013_HUMAN	T	206;206;262	.	ENSP00000381297:A206T	A	-	1	0	C22orf13	23269822	1.000000	0.71417	0.888000	0.34837	0.088000	0.18126	7.586000	0.82596	2.304000	0.77564	0.563000	0.77884	GCC		0.592	GUCD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319819.1	NM_031444		36	84	0	0	0	1	0	36	84				
SMG1	23049	broad.mit.edu	37	16	18937330	18937330	+	Missense_Mutation	SNP	T	T	C	rs190057031	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr16:18937330T>C	ENST00000446231.2	-	1	446	c.34A>G	c.(34-36)Agc>Ggc	p.S12G	SMG1_ENST00000389467.3_Missense_Mutation_p.S12G|CTD-2288F12.1_ENST00000565782.1_RNA|SMG1_ENST00000567737.1_5'UTR			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	12	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ccgccgccgctgcTCAGCCGA	0.736													T|||	19	0.00379393	0.0038	0.0072	5008	,	,		9587	0.001		0.006	False		,,,				2504	0.002					ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(34-36)Agc>Ggc		SMG1 phosphatidylinositol 3-kinase-related kinase							3.0	5.0	4.0					16																	18937330		1189	3103	4292	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18937330T>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.34A>G	16.37:g.18937330T>C	ENSP00000402515:p.Ser12Gly					SMG1_ENST00000567737.1_5'UTR|SMG1_ENST00000389467.3_Missense_Mutation_p.S12G	p.S12G			Q96Q15	SMG1_HUMAN			1	446	-			12			Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.34A>G	CCDS45430.1	56	0.02564102564102564	34	0.06910569105691057	10	0.027624309392265192	3	0.005244755244755245	9	0.011873350923482849	t	16.40	3.112756	0.56398	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01252	5.1;5.1	4.19	4.19	0.49359	.	0.256528	0.31134	N	0.008187	T	0.00144	0.0004	N	0.19112	0.55	0.30658	N	0.754677	B	0.02656	0.0	B	0.01281	0.0	T	0.32348	-0.9910	10	0.72032	D	0.01	.	6.7847	0.23668	0.0:0.1536:0.0:0.8464	.	12	Q96Q15	SMG1_HUMAN	G	12	ENSP00000402515:S12G;ENSP00000374118:S12G	ENSP00000374118:S12G	S	-	1	0	SMG1	18844831	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	2.875000	0.48491	1.749000	0.51849	0.374000	0.22700	AGC		0.736	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		6	58	0	0	0	1	0	6	58				
DIDO1	11083	broad.mit.edu	37	20	61512959	61512959	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr20:61512959G>A	ENST00000266070.4	-	16	4674	c.4349C>T	c.(4348-4350)gCc>gTc	p.A1450V	DIDO1_ENST00000395343.1_Missense_Mutation_p.A1450V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1450					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCTCACGTCGGCACACATCCT	0.607																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(4348-4350)gCc>gTc		death inducer-obliterator 1							80.0	87.0	85.0					20																	61512959		2203	4298	6501	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512959G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4349C>T	20.37:g.61512959G>A	ENSP00000266070:p.Ala1450Val					DIDO1_ENST00000395343.1_Missense_Mutation_p.A1450V	p.A1450V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	4674	-	Breast(26;5.68e-08)		1450					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.4349C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.200577	0.38905	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.08984	3.03;3.03	5.43	2.4	0.29515	.	0.597682	0.13711	N	0.368135	T	0.07818	0.0196	L	0.33485	1.01	0.18873	N	0.999986	B	0.12630	0.006	B	0.15052	0.012	T	0.27606	-1.0069	10	0.54805	T	0.06	-3.6696	10.9846	0.47514	0.2062:0.0:0.7938:0.0	.	1450	Q9BTC0	DIDO1_HUMAN	V	1450	ENSP00000266070:A1450V;ENSP00000378752:A1450V	ENSP00000266070:A1450V	A	-	2	0	DIDO1	60983404	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.819000	0.27308	0.671000	0.31185	0.655000	0.94253	GCC		0.607	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		6	529	0	0	0	1	0	6	529				
KIAA1462	57608	broad.mit.edu	37	10	30336573	30336573	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr10:30336573G>A	ENST00000375377.1	-	2	270	c.169C>T	c.(169-171)Cgt>Tgt	p.R57C		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	57					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GACGTCTTACGATGTGCGAGG	0.662																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(169-171)Cgt>Tgt		KIAA1462							46.0	51.0	50.0					10																	30336573		2026	4175	6201	SO:0001583	missense	57608							g.chr10:30336573G>A	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.169C>T	10.37:g.30336573G>A	ENSP00000364526:p.Arg57Cys						p.R57C	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			2	270	-			57					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.169C>T	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551265	0.45383	.	.	ENSG00000165757	ENST00000375377	T	0.12569	2.67	5.06	1.48	0.22813	.	0.673294	0.14424	N	0.320462	T	0.08088	0.0202	N	0.14661	0.345	0.09310	N	1	D	0.56521	0.976	P	0.44696	0.458	T	0.22626	-1.0211	10	0.56958	D	0.05	-6.0436	4.5512	0.12114	0.0:0.1942:0.1909:0.6149	.	57	Q9P266	K1462_HUMAN	C	57	ENSP00000364526:R57C	ENSP00000364526:R57C	R	-	1	0	KIAA1462	30376579	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.567000	0.23608	0.069000	0.16605	0.467000	0.42956	CGT		0.662	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		54	208	0	0	0	1	0	54	208				
TIAF1	9220	broad.mit.edu	37	17	27401145	27401145	+	Missense_Mutation	SNP	G	G	A	rs151013388		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:27401145G>A	ENST00000359450.6	-	1	4730	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W	MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000354329.4_3'UTR|MYO18A_ENST00000531253.1_3'UTR|MYO18A_ENST00000533112.1_3'UTR|MYO18A_ENST00000527372.1_3'UTR|TIAF1_ENST00000408971.2_Missense_Mutation_p.R25W	NM_004740.3	NP_004731.2	O95411	TIAF1_HUMAN	TGFB1-induced anti-apoptotic factor 1	25					apoptotic process (GO:0006915)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of apoptotic process (GO:0043066)	nucleus (GO:0005634)				kidney(1)|lung(1)|urinary_tract(1)	3	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			ACCTGGACCCGGCTCTCCTCA	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		16598	0.001		0.0	False		,,,				2504	0.0					ENST00000359450.6																			0				kidney(1)|lung(1)|urinary_tract(1)	3						c.(73-75)Cgg>Tgg		TGFB1-induced anti-apoptotic factor 1		G	,,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	56.0	56.0	56.0		,,73	-10.5	0.0	17	dbSNP_134	56	0,8600		0,0,4300	no	utr-3,utr-3,missense	TIAF1,MYO18A	NM_078471.3,NM_203318.1,NM_004740.3	,,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,benign	,,25/116	27401145	1,13005	2203	4300	6503	SO:0001583	missense	9220				anti-apoptosis|apoptosis|I-kappaB kinase/NF-kappaB cascade	nucleus		g.chr17:27401145G>A	AF105277	CCDS32599.1	17q11.2	2006-08-07				ENSG00000221995			11803	protein-coding gene	gene with protein product		609517				9918798	Standard	NM_004740		Approved		uc002hdv.1	O95411		ENST00000359450.6:c.73C>T	17.37:g.27401145G>A	ENSP00000352424:p.Arg25Trp					MYO18A_ENST00000527372.1_3'UTR|MYO18A_ENST00000533112.1_3'UTR|MYO18A_ENST00000531253.1_3'UTR|TIAF1_ENST00000408971.2_Missense_Mutation_p.R25W|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000354329.4_3'UTR	p.R25W	NM_004740.3	NP_004731.2	O95411	TIAF1_HUMAN	Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		1	4730	-	Lung NSC(42;0.015)		25					A2RRE2|Q6PEG2	Missense_Mutation	SNP	ENST00000359450.6	37	c.73C>T	CCDS32599.1	.	.	.	.	.	.	.	.	.	.	G	4.088	0.014265	0.07959	2.27E-4	0.0	ENSG00000221995	ENST00000408971;ENST00000511177	.	.	.	5.99	-10.5	0.00291	.	.	.	.	.	T	0.18215	0.0437	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42068	-0.9473	8	0.87932	D	0	.	9.1113	0.36730	0.3327:0.2671:0.4002:0.0	.	25	O95411	TIAF1_HUMAN	W	25	.	ENSP00000386130:R25W	R	-	1	2	TIAF1	24425271	0.001000	0.12720	0.001000	0.08648	0.008000	0.06430	-0.869000	0.04232	-1.616000	0.01572	-1.595000	0.00837	CGG		0.592	TIAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372394.2	NM_004740		39	248	0	0	0	1	0	39	248				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						ENST00000557932.1																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A														0	1145	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		6	62	0	0	0	1	0	6	62				
OR5J2	282775	broad.mit.edu	37	11	55944377	55944377	+	Missense_Mutation	SNP	C	C	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:55944377C>G	ENST00000312298.1	+	1	284	c.284C>G	c.(283-285)tCt>tGt	p.S95C		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					ATTTCTTTCTCTGCTTGCATG	0.458																																						ENST00000312298.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44						c.(283-285)tCt>tGt		olfactory receptor, family 5, subfamily J, member 2							169.0	138.0	148.0					11																	55944377		2201	4295	6496	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944377C>G	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.284C>G	11.37:g.55944377C>G	ENSP00000310788:p.Ser95Cys						p.S95C	NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN			1	284	+	Esophageal squamous(21;0.00693)		95					Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.284C>G	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.311684	0.40895	.	.	ENSG00000174957	ENST00000312298	T	0.00408	7.54	4.67	-0.729	0.11158	GPCR, rhodopsin-like superfamily (1);	0.831860	0.10480	N	0.669723	T	0.00496	0.0016	L	0.46670	1.46	0.09310	N	1	D	0.67145	0.996	P	0.55785	0.784	T	0.53746	-0.8395	10	0.38643	T	0.18	.	6.1701	0.20412	0.1189:0.5225:0.0:0.3586	.	95	Q8NH18	OR5J2_HUMAN	C	95	ENSP00000310788:S95C	ENSP00000310788:S95C	S	+	2	0	OR5J2	55700953	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.352000	0.07701	-0.056000	0.13221	0.584000	0.79450	TCT		0.458	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		9	409	0	0	0	1	0	9	409				
RBM12	10137	broad.mit.edu	37	20	34240896	34240896	+	Silent	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr20:34240896C>T	ENST00000374114.3	-	3	2612	c.2349G>A	c.(2347-2349)tcG>tcA	p.S783S	CPNE1_ENST00000397443.1_Intron|RBM12_ENST00000374104.3_Silent_p.S783S|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397446.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000359646.1_Silent_p.S783S|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397442.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	783	Gly-rich.|Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CTCCAAATCCCGATGGCCCAC	0.562																																						ENST00000374114.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2347-2349)tcG>tcA		RNA binding motif protein 12							39.0	43.0	42.0					20																	34240896		2198	4293	6491	SO:0001819	synonymous_variant	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34240896C>T	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.2349G>A	20.37:g.34240896C>T						CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000374104.3_Silent_p.S783S|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000359646.1_Silent_p.S783S|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000317677.5_Intron	p.S783S	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	2612	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		783			Gly-rich.|Pro-rich.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Silent	SNP	ENST00000374114.3	37	c.2349G>A	CCDS13261.1																																																																																				0.562	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		79	246	0	0	0	1	0	79	246				
PRG4	10216	broad.mit.edu	37	1	186276585	186276585	+	Silent	SNP	A	A	C			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:186276585A>C	ENST00000445192.2	+	7	1779	c.1734A>C	c.(1732-1734)ccA>ccC	p.P578P	PRG4_ENST00000367486.3_Silent_p.P535P|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.P537P|PRG4_ENST00000367485.4_Silent_p.P485P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	578	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)			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						AGCCTGCCCCAACTACCCCCA	0.642																																						ENST00000445192.2																			0				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.(1732-1734)ccA>ccC		proteoglycan 4							89.0	92.0	91.0					1																	186276585		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276585A>C	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.1734A>C	1.37:g.186276585A>C						PRG4_ENST00000367485.4_Silent_p.P485P|PRG4_ENST00000367483.4_Silent_p.P537P|PRG4_ENST00000367486.3_Silent_p.P535P|PRG4_ENST00000367484.3_Intron	p.P578P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1779	+			578			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1734A>C	CCDS1369.1																																																																																				0.642	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		12	388	0	0	0	1	0	12	388				
USP35	57558	broad.mit.edu	37	11	77907359	77907359	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:77907359G>A	ENST00000529308.1	+	2	329	c.68G>A	c.(67-69)cGg>cAg	p.R23Q	USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_5'Flank|USP35_ENST00000441408.2_5'Flank|USP35_ENST00000530267.1_Intron	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	23					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GGGCTGGTTCGGCGCGTGCTG	0.716																																						ENST00000529308.1																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(67-69)cGg>cAg		ubiquitin specific peptidase 35							30.0	36.0	34.0					11																	77907359		2186	4275	6461	SO:0001583	missense	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77907359G>A	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.68G>A	11.37:g.77907359G>A	ENSP00000431876:p.Arg23Gln					USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_Intron	p.R23Q	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		2	329	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		23						Missense_Mutation	SNP	ENST00000529308.1	37	c.68G>A	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.652237	0.47362	.	.	ENSG00000118369	ENST00000529308	T	0.05649	3.41	4.31	3.38	0.38709	.	0.000000	0.41823	D	0.000817	T	0.04588	0.0125	L	0.29908	0.895	0.80722	D	1	P	0.35155	0.487	B	0.22152	0.038	T	0.50583	-0.8811	10	0.27785	T	0.31	-28.6736	13.2753	0.60184	0.0:0.0:0.8307:0.1693	.	23	Q9P2H5	UBP35_HUMAN	Q	23	ENSP00000431876:R23Q	ENSP00000431876:R23Q	R	+	2	0	USP35	77585007	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	6.220000	0.72237	0.989000	0.38761	0.313000	0.20887	CGG		0.716	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		59	226	0	0	0	1	0	59	226				
SH2D3C	10044	broad.mit.edu	37	9	130511512	130511512	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr9:130511512G>A	ENST00000314830.8	-	5	1230	c.1117C>T	c.(1117-1119)Cgc>Tgc	p.R373C	SH2D3C_ENST00000373276.3_Missense_Mutation_p.R305C|SH2D3C_ENST00000420366.1_Missense_Mutation_p.R215C|SH2D3C_ENST00000373277.4_Missense_Mutation_p.R216C|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000373274.3_Missense_Mutation_p.R213C|SH2D3C_ENST00000429553.1_Missense_Mutation_p.R19C	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	373					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)	p.R373S(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCATCGCTGCGGGTGACCTTG	0.617																																						ENST00000314830.8																			2	Substitution - Missense(2)	p.R373S(2)	lung(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1117-1119)Cgc>Tgc		SH2 domain containing 3C							55.0	56.0	56.0					9																	130511512		2203	4300	6503	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130511512G>A	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1117C>T	9.37:g.130511512G>A	ENSP00000317817:p.Arg373Cys					SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000429553.1_Missense_Mutation_p.R19C|SH2D3C_ENST00000373274.3_Missense_Mutation_p.R213C|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R305C|SH2D3C_ENST00000373277.4_Missense_Mutation_p.R216C|SH2D3C_ENST00000420366.1_Missense_Mutation_p.R215C	p.R373C	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN			5	1230	-			373					A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.1117C>T	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986440	0.35036	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830;ENST00000414380	T;T;T;T;T;T;T	0.38722	2.55;2.56;2.3;2.56;1.68;2.51;1.12	5.37	3.42	0.39159	.	0.469026	0.24884	N	0.034822	T	0.33469	0.0864	L	0.51422	1.61	0.47123	D	0.999322	B;B;B;B;B	0.21821	0.007;0.061;0.033;0.007;0.005	B;B;B;B;B	0.14578	0.003;0.011;0.005;0.007;0.004	T	0.15867	-1.0422	10	0.38643	T	0.18	-28.0923	7.986	0.30212	0.0869:0.0:0.6601:0.253	.	213;373;305;216;215	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	C	216;215;305;213;19;373;190	ENSP00000362374:R216C;ENSP00000388536:R215C;ENSP00000362373:R305C;ENSP00000362371:R213C;ENSP00000394632:R19C;ENSP00000317817:R373C;ENSP00000413760:R190C	ENSP00000317817:R373C	R	-	1	0	SH2D3C	129551333	1.000000	0.71417	0.993000	0.49108	0.615000	0.37417	2.677000	0.46892	1.413000	0.46997	0.561000	0.74099	CGC		0.617	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		59	334	0	0	0	1	0	59	334				
KIF26A	26153	broad.mit.edu	37	14	104618363	104618363	+	Silent	SNP	C	C	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr14:104618363C>A	ENST00000423312.2	+	3	300	c.300C>A	c.(298-300)ctC>ctA	p.L100L	KIF26A_ENST00000315264.7_5'UTR	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	100					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		ATCCTTGCCTCTCTGCCCTGC	0.672																																						ENST00000423312.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21						c.(298-300)ctC>ctA		kinesin family member 26A							23.0	27.0	26.0					14																	104618363		2109	4140	6249	SO:0001819	synonymous_variant	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104618363C>A	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.300C>A	14.37:g.104618363C>A						KIF26A_ENST00000315264.7_5'UTR	p.L100L	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	3	300	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	100					Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	c.300C>A	CCDS45171.1																																																																																				0.672	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			55	172	1	0	2.01871e-26	1	2.17739e-26	55	172				
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157|rs71318762	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1				BMS1 pseudogene 20																		AGCTGCCACATAAGTTGTCCT	0.299													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		9186	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			0							g.chr22:22663086T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663086T>G								NR_027293.1						0	525	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.299	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			11	95	0	0	0	1	0	11	95				
DLGAP1	9229	broad.mit.edu	37	18	3879329	3879329	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr18:3879329G>A	ENST00000315677.3	-	4	1335	c.740C>T	c.(739-741)gCg>gTg	p.A247V	DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.A247V|DLGAP1_ENST00000581527.1_Missense_Mutation_p.A247V|DLGAP1_ENST00000515196.2_Missense_Mutation_p.A247V	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	247					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GGCCTTCACCGCCTGCTCGCT	0.657																																						ENST00000315677.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(739-741)gCg>gTg		discs, large (Drosophila) homolog-associated protein 1							62.0	62.0	62.0					18																	3879329		2203	4300	6503	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3879329G>A	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.740C>T	18.37:g.3879329G>A	ENSP00000316377:p.Ala247Val					DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Missense_Mutation_p.A247V|DLGAP1_ENST00000584874.1_Missense_Mutation_p.A247V|DLGAP1_ENST00000581527.1_Missense_Mutation_p.A247V	p.A247V	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN			4	1335	-		Colorectal(8;0.0257)	247					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.740C>T	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688161	0.68271	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.16597	2.33;2.33	5.51	5.51	0.81932	.	0.118257	0.64402	D	0.000017	T	0.16642	0.0400	L	0.40543	1.245	0.53688	D	0.999975	B;P;B	0.40931	0.384;0.733;0.181	B;B;B	0.33339	0.038;0.162;0.069	T	0.01993	-1.1233	10	0.62326	D	0.03	-12.462	19.4162	0.94700	0.0:0.0:1.0:0.0	.	247;247;247	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	V	247	ENSP00000316377:A247V;ENSP00000445973:A247V	ENSP00000316377:A247V	A	-	2	0	DLGAP1	3869329	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.431000	0.80335	2.605000	0.88082	0.655000	0.94253	GCG		0.657	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			68	258	0	0	0	1	0	68	258				
GM2A	2760	broad.mit.edu	37	5	150639359	150639359	+	Missense_Mutation	SNP	G	G	C			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr5:150639359G>C	ENST00000357164.3	+	2	450	c.125G>C	c.(124-126)gGg>gCg	p.G42A		NM_000405.4|NM_001167607.1	NP_000396.2|NP_001161079.1	P17900	SAP3_HUMAN	GM2 ganglioside activator	42					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|learning or memory (GO:0007611)|lipid storage (GO:0019915)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	apical cortex (GO:0045179)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|mitochondrion (GO:0005739)	beta-N-acetylhexosaminidase activity (GO:0004563)|lipid transporter activity (GO:0005319)|phospholipase activator activity (GO:0016004)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTGATGAAGGGAAGGACCCT	0.527																																						ENST00000357164.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8						c.(124-126)gGg>gCg		GM2 ganglioside activator							70.0	62.0	65.0					5																	150639359		2203	4300	6503	SO:0001583	missense	2760					lysosome|nucleolus	sphingolipid activator protein activity	g.chr5:150639359G>C		CCDS4313.1	5q33.1	2010-03-17	2004-05-20		ENSG00000196743	ENSG00000196743			4367	protein-coding gene	gene with protein product	"""cerebroside sulfate activator protein"", ""sphingolipid activator protein 3"""	613109	"""GM2 ganglioside activator protein"""			115863, 1915857	Standard	NM_000405		Approved	SAP-3	uc003ltr.4	P17900	OTTHUMG00000130124	ENST00000357164.3:c.125G>C	5.37:g.150639359G>C	ENSP00000349687:p.Gly42Ala						p.G42A	NM_000405.4|NM_001167607.1	NP_000396.2|NP_001161079.1	P17900	SAP3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	450	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	42					B2R699|D3DQH6|Q14426|Q14428|Q6LBL5	Missense_Mutation	SNP	ENST00000357164.3	37	c.125G>C	CCDS4313.1	.	.	.	.	.	.	.	.	.	.	G	2.987	-0.209025	0.06140	.	.	ENSG00000196743	ENST00000523466;ENST00000357164	T;T	0.71579	-0.58;-0.58	4.96	2.14	0.27477	MD-2-related lipid-recognition (1);	0.306608	0.35772	N	0.002992	T	0.57417	0.2052	L	0.47716	1.5	0.09310	N	1	P;P	0.46142	0.797;0.873	B;B	0.39027	0.117;0.288	T	0.48570	-0.9024	10	0.29301	T	0.29	-7.8707	8.4518	0.32875	0.0857:0.4541:0.4602:0.0	.	42;42	B4DQM5;P17900	.;SAP3_HUMAN	A	57;42	ENSP00000429100:G57A;ENSP00000349687:G42A	ENSP00000349687:G42A	G	+	2	0	GM2A	150619552	0.006000	0.16342	0.021000	0.16686	0.165000	0.22458	0.193000	0.17116	0.140000	0.18849	-0.136000	0.14681	GGG		0.527	GM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252432.1	NM_000405		4	176	0	0	0	1	0	4	176				
TP53	7157	broad.mit.edu	37	17	7577141	7577141	+	Missense_Mutation	SNP	C	C	T	rs193920774		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:7577141C>T	ENST00000269305.4	-	8	986	c.797G>A	c.(796-798)gGa>gAa	p.G266E	TP53_ENST00000359597.4_Missense_Mutation_p.G266E|TP53_ENST00000420246.2_Missense_Mutation_p.G266E|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G266E|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.G266E	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	266	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)	GCTGTTCCGTCCCAGTAGATT	0.517		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		121	Substitution - Missense(95)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(3)	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	lung(23)|oesophagus(10)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(9)|breast(9)|upper_aerodigestive_tract(8)|ovary(8)|urinary_tract(7)|pancreas(6)|skin(5)|central_nervous_system(4)|stomach(4)|bone(4)|liver(4)|endometrium(3)|vulva(1)|kidney(1)|thyroid(1)|cervix(1)|eye(1)|genital_tract(1)|biliary_tract(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						c.(796-798)gGa>gAa	Other conserved DNA damage response genes	tumor protein p53							50.0	44.0	46.0					17																	7577141		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.chr17:7577141C>T	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.797G>A	17.37:g.7577141C>T	ENSP00000269305:p.Gly266Glu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.G266E|TP53_ENST00000455263.2_Missense_Mutation_p.G266E|TP53_ENST00000359597.4_Missense_Mutation_p.G266E|TP53_ENST00000445888.2_Missense_Mutation_p.G266E|TP53_ENST00000413465.2_Intron	p.G266E	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	929	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	266		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|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.797G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614795	0.87359	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99898	-7.61;-7.61;-7.61;-7.61;-7.61;-7.61	5.13	5.13	0.70059	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	0.99906	0.9955	M	0.92367	3.3	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;0.998	D	0.96190	0.9137	10	0.87932	D	0	-13.0798	16.1198	0.81342	0.0:1.0:0.0:0.0	.	266;266;266;266	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	E	266;266;266;266;266;255;134	ENSP00000352610:G266E;ENSP00000269305:G266E;ENSP00000398846:G266E;ENSP00000391127:G266E;ENSP00000391478:G266E;ENSP00000425104:G134E	ENSP00000269305:G266E	G	-	2	0	TP53	7517866	1.000000	0.71417	0.996000	0.52242	0.744000	0.42396	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GGA		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	43	0	0	0	1	0	14	43				
TPD52L1	7164	broad.mit.edu	37	6	125541274	125541274	+	Missense_Mutation	SNP	A	A	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr6:125541274A>T	ENST00000534000.1	+	2	366	c.70A>T	c.(70-72)Agt>Tgt	p.S24C	TPD52L1_ENST00000368402.5_Missense_Mutation_p.S24C|TPD52L1_ENST00000304877.13_Missense_Mutation_p.S24C|TPD52L1_ENST00000534199.1_5'UTR|TPD52L1_ENST00000528193.1_Missense_Mutation_p.S24C|HDDC2_ENST00000608456.1_5'UTR|TPD52L1_ENST00000524679.1_5'UTR|TPD52L1_ENST00000532429.1_5'UTR|TPD52L1_ENST00000368388.2_Missense_Mutation_p.S24C|TPD52L1_ENST00000527711.1_Missense_Mutation_p.S24C|TPD52L1_ENST00000392482.2_5'UTR	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	24					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		TGCAGTAGCCAGTGCTGACTT	0.378																																						ENST00000534000.1																			0				endometrium(2)|large_intestine(2)|prostate(1)	5						c.(70-72)Agt>Tgt		tumor protein D52-like 1							140.0	136.0	138.0					6																	125541274		2203	4300	6503	SO:0001583	missense	0				DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity	g.chr6:125541274A>T	U44427	CCDS5130.1, CCDS34527.1, CCDS34528.1, CCDS43502.1, CCDS75513.1, CCDS75514.1	6q22-q23	2008-07-29			ENSG00000111907	ENSG00000111907			12006	protein-coding gene	gene with protein product		604069				8812487, 16112108	Standard	NM_003287		Approved	D53, hD53	uc003pzu.1	Q16890	OTTHUMG00000015505	ENST00000534000.1:c.70A>T	6.37:g.125541274A>T	ENSP00000434142:p.Ser24Cys					TPD52L1_ENST00000304877.13_Missense_Mutation_p.S24C|TPD52L1_ENST00000392482.2_5'UTR|TPD52L1_ENST00000368402.5_Missense_Mutation_p.S24C|TPD52L1_ENST00000524679.1_5'UTR|TPD52L1_ENST00000528193.1_Missense_Mutation_p.S24C|TPD52L1_ENST00000527711.1_Missense_Mutation_p.S24C|TPD52L1_ENST00000534199.1_5'UTR|TPD52L1_ENST00000368388.2_Missense_Mutation_p.S24C|TPD52L1_ENST00000532429.1_5'UTR	p.S24C	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)	2	366	+			24					A8K757|A8K772|A8MUD2|A8MUJ7|A8MW70|F6V707|O43397|Q5TC99|Q5TDQ0|Q9BUQ6|Q9C054	Missense_Mutation	SNP	ENST00000534000.1	37	c.70A>T	CCDS5130.1	.	.	.	.	.	.	.	.	.	.	A	16.93	3.258538	0.59321	.	.	ENSG00000111907	ENST00000304877;ENST00000534000;ENST00000368402;ENST00000368388;ENST00000527711;ENST00000528193;ENST00000392484	T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73	5.26	-0.253	0.12996	.	0.282976	0.43919	D	0.000514	T	0.12263	0.0298	L	0.38175	1.15	0.38267	D	0.942041	P;P;P	0.51537	0.844;0.844;0.946	B;B;P	0.50590	0.416;0.416;0.645	T	0.06058	-1.0848	10	0.56958	D	0.05	-0.967	5.6478	0.17598	0.4559:0.1515:0.3926:0.0	.	24;24;24	Q16890-3;Q16890-2;Q16890	.;.;TPD53_HUMAN	C	24	ENSP00000306285:S24C;ENSP00000434142:S24C;ENSP00000357387:S24C;ENSP00000357373:S24C;ENSP00000436953:S24C;ENSP00000434743:S24C	ENSP00000306285:S24C	S	+	1	0	TPD52L1	125582973	0.999000	0.42202	0.993000	0.49108	0.840000	0.47671	1.953000	0.40352	0.087000	0.17167	-0.250000	0.11733	AGT		0.378	TPD52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042065.2			4	288	0	0	0	1	0	4	288				
DPPA3P2	400206	broad.mit.edu	37	14	36840911	36840911	+	RNA	SNP	G	G	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr14:36840911G>T	ENST00000557188.1	+	0	542									developmental pluripotency associated 3 pseudogene 2																		AAGATGGCAAGATTGAGATAC	0.468																																						ENST00000557188.1																			0																																																			0							g.chr14:36840911G>T			14q13.3	2012-07-04			ENSG00000188831	ENSG00000188831			20417	pseudogene	pseudogene							Standard	NG_023379		Approved	STELLAR			OTTHUMG00000170728		14.37:g.36840911G>T														0	542	+									RNA	SNP	ENST00000557188.1	37																																																																																						0.468	DPPA3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000410122.1			44	168	1	0	1.32136e-16	1	1.40075e-16	44	168				
FCGR3A	2214	broad.mit.edu	37	1	161512867	161512867	+	Nonsense_Mutation	SNP	G	G	A	rs1042207		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:161512867G>A	ENST00000436743.1	-	6	854	c.700C>T	c.(700-702)Cga>Tga	p.R234*	FCGR3A_ENST00000367969.3_Nonsense_Mutation_p.R270*|FCGR3A_ENST00000540048.1_Nonsense_Mutation_p.R234*|RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000476031.1_5'Flank|FCGR3A_ENST00000443193.1_Nonsense_Mutation_p.R269*	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	234					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R270*(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GTTGAGCTTCGAATGTTTGTC	0.443																																						ENST00000367969.3																			2	Substitution - Nonsense(2)	p.R270*(2)	prostate(1)|lung(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(808-810)Cga>Tga		Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						154.0	151.0	152.0					1																	161512867		2203	4300	6503	SO:0001587	stop_gained	2214				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161512867G>A	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.700C>T	1.37:g.161512867G>A	ENSP00000416607:p.Arg234*					FCGR3A_ENST00000443193.1_Nonsense_Mutation_p.R269*|FCGR3A_ENST00000436743.1_Nonsense_Mutation_p.R234*|FCGR3A_ENST00000540048.1_Nonsense_Mutation_p.R234*	p.R270*	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		5	991	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		234					A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Nonsense_Mutation	SNP	ENST00000436743.1	37	c.808C>T	CCDS44266.1	7	0.003205128205128205	1	0.0020325203252032522	1	0.0027624309392265192	1	0.0017482517482517483	4	0.005277044854881266	G	14.57	2.573951	0.45902	.	.	ENSG00000203747	ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048	.	.	.	3.98	3.98	0.46160	.	.	.	.	.	.	.	.	.	.	.	0.38171	D	0.93934	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	11.8746	0.52539	0.0:0.0:1.0:0.0	rs1042207;rs3171041	.	.	.	X	270;269;234;234;234	.	ENSP00000356944:R234X	R	-	1	2	FCGR3A	159779491	0.309000	0.24518	0.098000	0.21074	0.003000	0.03518	2.133000	0.42093	2.514000	0.84764	0.591000	0.81541	CGA		0.443	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569		7	549	0	0	0	1	0	7	549				
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000470386.1_5'Flank|GTF3C3_ENST00000409364.3_Silent_p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468																																						ENST00000263956.3																			1	Substitution - coding silent(1)	p.E103E(1)	endometrium(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(307-309)gaG>gaA		general transcription factor IIIC, polypeptide 3, 102kDa							65.0	63.0	64.0					2																	197657782		2203	4300	6503	SO:0001819	synonymous_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197657782C>T	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.309G>A	2.37:g.197657782C>T						GTF3C3_ENST00000409364.3_Silent_p.E103E	p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			3	398	-			103			Glu-rich.		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	c.309G>A	CCDS2316.1																																																																																				0.468	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			7	331	0	0	0	1	0	7	331				
PGC	5225	broad.mit.edu	37	6	41704646	41704646	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr6:41704646A>G	ENST00000373025.3	-	9	1173	c.1111T>C	c.(1111-1113)Tac>Cac	p.Y371H	TFEB_ENST00000373033.1_5'Flank|TFEB_ENST00000420312.1_5'Flank|TFEB_ENST00000403298.4_5'Flank|TFEB_ENST00000358871.2_5'Flank|TFEB_ENST00000230323.4_5'Flank|RP11-298J23.5_ENST00000438967.1_RNA	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	371					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			ACGGAATAGTAGGACCTGAGG	0.602																																						ENST00000373025.3																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16						c.(1111-1113)Tac>Cac		progastricsin (pepsinogen C)							117.0	98.0	105.0					6																	41704646		2203	4300	6503	SO:0001583	missense	5225				digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity	g.chr6:41704646A>G		CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.1111T>C	6.37:g.41704646A>G	ENSP00000362116:p.Tyr371His						p.Y371H	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		9	1173	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		371					B4DVZ3|Q5T3D7|Q5T3D8	Missense_Mutation	SNP	ENST00000373025.3	37	c.1111T>C	CCDS4859.1	.	.	.	.	.	.	.	.	.	.	A	14.87	2.663054	0.47572	.	.	ENSG00000096088	ENST00000373025	T	0.34275	1.37	4.82	4.82	0.62117	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.000000	0.64402	D	0.000001	T	0.64136	0.2571	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76091	-0.3086	10	0.87932	D	0	.	14.2156	0.65790	1.0:0.0:0.0:0.0	.	371	P20142	PEPC_HUMAN	H	371	ENSP00000362116:Y371H	ENSP00000362116:Y371H	Y	-	1	0	PGC	41812624	1.000000	0.71417	0.967000	0.41034	0.048000	0.14542	6.504000	0.73704	2.013000	0.59113	0.459000	0.35465	TAC		0.602	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040521.2			10	198	0	0	0	1	0	10	198				
PDE2A	5138	broad.mit.edu	37	11	72295749	72295749	+	Silent	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:72295749G>A	ENST00000334456.5	-	18	1628	c.1383C>T	c.(1381-1383)gcC>gcT	p.A461A	PDE2A_ENST00000376450.3_Silent_p.A205A|PDE2A_ENST00000544570.1_Silent_p.A454A|PDE2A_ENST00000418754.2_Silent_p.A346A|PDE2A_ENST00000540345.1_Silent_p.A452A|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000444035.2_Silent_p.A452A	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	461	GAF 2.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	TGCCCTGATCGGCCGGGATGC	0.622																																						ENST00000334456.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1381-1383)gcC>gcT		phosphodiesterase 2A, cGMP-stimulated	Sildenafil(DB00203)|Sulindac(DB00605)						46.0	49.0	48.0					11																	72295749		2200	4292	6492	SO:0001819	synonymous_variant	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72295749G>A	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.1383C>T	11.37:g.72295749G>A						PDE2A_ENST00000540345.1_Silent_p.A452A|PDE2A_ENST00000544570.1_Silent_p.A454A|PDE2A_ENST00000376450.3_Silent_p.A205A|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000444035.2_Silent_p.A452A|PDE2A_ENST00000418754.2_Silent_p.A346A	p.A461A	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		18	1628	-			461			GAF 2.		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Silent	SNP	ENST00000334456.5	37	c.1383C>T	CCDS8216.1																																																																																				0.622	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		35	131	0	0	0	1	0	35	131				
ABCA12	26154	broad.mit.edu	37	2	215865634	215865634	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:215865634C>T	ENST00000272895.7	-	22	3193	c.2974G>A	c.(2974-2976)Gca>Aca	p.A992T	ABCA12_ENST00000389661.4_Missense_Mutation_p.A674T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	992					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTGGTCTGTGCGGTCTTGAGA	0.448																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(2974-2976)Gca>Aca		ATP-binding cassette, sub-family A (ABC1), member 12							141.0	148.0	146.0					2																	215865634		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215865634C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2974G>A	2.37:g.215865634C>T	ENSP00000272895:p.Ala992Thr					ABCA12_ENST00000389661.4_Missense_Mutation_p.A674T	p.A992T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	22	3193	-		Renal(323;0.127)	992					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.2974G>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	2.864	-0.235436	0.05983	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.95788	-3.81;-3.81	5.73	0.518	0.17030	.	0.350884	0.28021	N	0.016901	D	0.85691	0.5755	N	0.08118	0	0.58432	D	0.999999	B;B	0.20261	0.043;0.011	B;B	0.19148	0.021;0.024	T	0.74390	-0.3681	10	0.02654	T	1	.	12.6441	0.56725	0.7354:0.2003:0.0:0.0643	.	992;674	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	T	992;674	ENSP00000272895:A992T;ENSP00000374312:A674T	ENSP00000272895:A992T	A	-	1	0	ABCA12	215573879	0.004000	0.15560	0.053000	0.19242	0.987000	0.75469	0.078000	0.14761	-0.199000	0.10317	0.555000	0.69702	GCA		0.448	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		6	448	0	0	0	1	0	6	448				
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158|rs71318762	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1				BMS1 pseudogene 20																		GCTGCCACATAAGTTGTCCTT	0.303													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		8984	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			0							g.chr22:22663087A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663087A>G								NR_027293.1						0	526	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.303	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			10	97	0	0	0	1	0	10	97				
MYO15A	51168	broad.mit.edu	37	17	18043920	18043920	+	Silent	SNP	G	G	A	rs371647200		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:18043920G>A	ENST00000205890.5	+	20	5639	c.5301G>A	c.(5299-5301)gcG>gcA	p.A1767A	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1767	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCTACAAGGCGCACACTGTGG	0.662											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		17663	0.001		0.0	False		,,,				2504	0.0					ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(5299-5301)gcG>gcA		myosin XVA		G		1,3991		0,1,1995	66.0	77.0	73.0		5301	-8.4	0.3	17		73	1,8327		0,1,4163	no	coding-synonymous	MYO15A	NM_016239.3		0,2,6158	AA,AG,GG		0.012,0.0251,0.0162		1767/3531	18043920	2,12318	1996	4164	6160	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18043920G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.5301G>A	17.37:g.18043920G>A			OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	722	MYO15A_ENST00000412324.1_3'UTR	p.A1767A	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			20	5639	+	all_neural(463;0.228)		1767			Myosin head-like.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.5301G>A	CCDS42271.1																																																																																				0.662	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		6	411	0	0	0	1	0	6	411				
CAND1	55832	broad.mit.edu	37	12	67691335	67691335	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:67691335C>T	ENST00000545606.1	+	5	1077	c.640C>T	c.(640-642)Ctt>Ttt	p.L214F		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	214					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TTTTGTAGATCTTATTGAACA	0.403																																						ENST00000545606.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(640-642)Ctt>Ttt		cullin-associated and neddylation-dissociated 1							127.0	124.0	125.0					12																	67691335		2203	4300	6503	SO:0001583	missense	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67691335C>T		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.640C>T	12.37:g.67691335C>T	ENSP00000442318:p.Leu214Phe						p.L214F	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	5	1077	+			214					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.640C>T	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963385	0.92791	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000540047	T	0.67865	-0.29	5.61	5.61	0.85477	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79575	0.4469	L	0.55834	1.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76940	-0.2773	9	.	.	.	-12.9708	19.6379	0.95744	0.0:1.0:0.0:0.0	.	214	Q86VP6	CAND1_HUMAN	F	214;214;56	ENSP00000442318:L214F	.	L	+	1	0	CAND1	65977602	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.657000	0.90304	0.655000	0.94253	CTT		0.403	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		87	290	0	0	0	1	0	87	290				
TMPRSS6	164656	broad.mit.edu	37	22	37471275	37471275	+	Silent	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr22:37471275G>A	ENST00000346753.3	-	11	1385	c.1269C>T	c.(1267-1269)ccC>ccT	p.P423P	TMPRSS6_ENST00000406725.1_Silent_p.P414P|TMPRSS6_ENST00000381792.2_Silent_p.P414P|TMPRSS6_ENST00000406856.1_Silent_p.P414P	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	423	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TGGCCACCACGGGGATCCTCT	0.657																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(1240-1242)ccC>ccT		transmembrane protease, serine 6							54.0	57.0	56.0					22																	37471275		2203	4300	6503	SO:0001819	synonymous_variant	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37471275G>A	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1269C>T	22.37:g.37471275G>A						TMPRSS6_ENST00000406725.1_Silent_p.P414P|TMPRSS6_ENST00000406856.1_Silent_p.P414P|TMPRSS6_ENST00000346753.3_Silent_p.P423P	p.P414P			Q8IU80	TMPS6_HUMAN			11	1382	-			423			CUB 2.		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Silent	SNP	ENST00000346753.3	37	c.1242C>T	CCDS13941.1																																																																																				0.657	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		5	303	0	0	0	1	0	5	303				
GLB1L	79411	broad.mit.edu	37	2	220101856	220101856	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:220101856T>C	ENST00000295759.7	-	17	2216	c.1903A>G	c.(1903-1905)Atc>Gtc	p.I635V	GLB1L_ENST00000356283.3_Missense_Mutation_p.I545V|GLB1L_ENST00000392089.2_Missense_Mutation_p.I635V|GLB1L_ENST00000409640.1_Missense_Mutation_p.I545V|GLB1L_ENST00000497855.1_5'UTR			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	635					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGAATTGATATGTGTCCTG	0.468																																						ENST00000295759.7																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(1903-1905)Atc>Gtc		galactosidase, beta 1-like							163.0	148.0	153.0					2																	220101856		2203	4300	6503	SO:0001583	missense	79411				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr2:220101856T>C		CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.1903A>G	2.37:g.220101856T>C	ENSP00000295759:p.Ile635Val					GLB1L_ENST00000392089.2_Missense_Mutation_p.I635V|GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000409640.1_Missense_Mutation_p.I545V|GLB1L_ENST00000356283.3_Missense_Mutation_p.I545V	p.I635V			Q6UWU2	GLB1L_HUMAN		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	17	2216	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	635					Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	c.1903A>G	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	T	4.871	0.161916	0.09287	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283	D;D;D;D	0.96992	-4.2;-3.93;-4.2;-3.93	4.93	-9.86	0.00473	Galactose-binding domain-like (1);	3.089320	0.00575	N	0.000313	D	0.86112	0.5855	N	0.04959	-0.14	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.81204	-0.1039	10	0.21540	T	0.41	0.3857	2.6931	0.05126	0.1812:0.3995:0.1959:0.2234	.	545;635	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	V	635;545;635;545	ENSP00000295759:I635V;ENSP00000386354:I545V;ENSP00000375939:I635V;ENSP00000348628:I545V	ENSP00000295759:I635V	I	-	1	0	GLB1L	219810100	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.053000	0.03500	-2.213000	0.00735	-0.256000	0.11100	ATC		0.468	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506		99	398	0	0	0	1	0	99	398				
PRSS36	146547	broad.mit.edu	37	16	31152793	31152793	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr16:31152793A>G	ENST00000268281.4	-	12	1956	c.1898T>C	c.(1897-1899)cTc>cCc	p.L633P	PRSS36_ENST00000418068.2_Missense_Mutation_p.L633P|PRSS36_ENST00000569305.1_Missense_Mutation_p.L628P	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	633	Peptidase S1 3. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GACCCACCTGAGGACACAGTG	0.547																																						ENST00000268281.4																			0				kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						c.(1897-1899)cTc>cCc		protease, serine, 36							62.0	71.0	68.0					16																	31152793		2197	4300	6497	SO:0001583	missense	146547				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	g.chr16:31152793A>G	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.1898T>C	16.37:g.31152793A>G	ENSP00000268281:p.Leu633Pro					PRSS36_ENST00000569305.1_Missense_Mutation_p.L628P|PRSS36_ENST00000418068.2_Missense_Mutation_p.L633P	p.L633P	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN			12	1956	-			633			Peptidase S1 3.		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	c.1898T>C	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	A	16.81	3.225929	0.58668	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;D	0.88818	-2.43;-1.57	5.29	3.99	0.46301	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.85435	0.5696	N	0.05554	-0.025	0.53005	D	0.999966	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.985;0.985	T	0.82182	-0.0584	9	0.27785	T	0.31	.	7.6216	0.28189	0.8891:0.0:0.1109:0.0	.	633;628;633	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	P	633	ENSP00000268281:L633P;ENSP00000407160:L633P	ENSP00000268281:L633P	L	-	2	0	PRSS36	31060294	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.959000	0.49153	1.996000	0.58369	0.374000	0.22700	CTC		0.547	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502		6	463	0	0	0	1	0	6	463				
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:114270000G>A	ENST00000393494.2	+	5	816	c.537G>A	c.(535-537)caG>caA	p.Q179Q	FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393500.3_Silent_p.Q104Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q			O15409	FOXP2_HUMAN	forkhead box P2	179	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.Q204Q(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						agcaacaacagcagcagcagc	0.498																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q204Q(1)	lung(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.(310-312)caG>caA		forkhead box P2							41.0	38.0	39.0					7																	114270000		2199	4282	6481	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.chr7:114270000G>A	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.537G>A	7.37:g.114270000G>A						FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q	p.Q104Q			O15409	FOXP2_HUMAN			11	1132	+			179			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.312G>A	CCDS5760.1																																																																																				0.498	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		5	212	0	0	0	1	0	5	212				
TBP	6908	broad.mit.edu	37	6	170871061	170871061	+	Silent	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr6:170871061G>A	ENST00000392092.2	+	3	516	c.237G>A	c.(235-237)caG>caA	p.Q79Q	TBP_ENST00000540980.1_Silent_p.Q59Q|TBP_ENST00000230354.6_Silent_p.Q79Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	79	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q79Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.582																																						ENST00000392092.2																			2	Substitution - coding silent(2)	p.Q79Q(2)	prostate(1)|endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(235-237)caG>caA		TATA box binding protein							12.0	17.0	15.0					6																	170871061		1930	3791	5721	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871061G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.237G>A	6.37:g.170871061G>A						TBP_ENST00000540980.1_Silent_p.Q59Q|TBP_ENST00000230354.6_Silent_p.Q79Q	p.Q79Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	516	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	79			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.237G>A	CCDS5315.1																																																																																				0.582	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		7	111	0	0	0	1	0	7	111				
CSMD1	64478	broad.mit.edu	37	8	3216706	3216706	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr8:3216706C>T	ENST00000520002.1	-	22	3830	c.3275G>A	c.(3274-3276)cGt>cAt	p.R1092H	CSMD1_ENST00000602723.1_Missense_Mutation_p.R1092H|CSMD1_ENST00000537824.1_Missense_Mutation_p.R1091H|CSMD1_ENST00000602557.1_Missense_Mutation_p.R1092H|CSMD1_ENST00000542608.1_Missense_Mutation_p.R1091H|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1091H|CSMD1_ENST00000400186.3_Missense_Mutation_p.R1092H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1092	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACTCCACACACGGCGGCCCCC	0.562																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(3274-3276)cGt>cAt		CUB and Sushi multiple domains 1							70.0	74.0	72.0					8																	3216706		2203	4300	6503	SO:0001583	missense	64478					integral to membrane		g.chr8:3216706C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3275G>A	8.37:g.3216706C>T	ENSP00000430733:p.Arg1092His					CSMD1_ENST00000602723.1_Missense_Mutation_p.R1092H|CSMD1_ENST00000400186.3_Missense_Mutation_p.R1092H|CSMD1_ENST00000602557.1_Missense_Mutation_p.R1092H|CSMD1_ENST00000542608.1_Missense_Mutation_p.R1091H|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1091H|CSMD1_ENST00000537824.1_Missense_Mutation_p.R1091H	p.R1092H			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	22	3830	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1092			Sushi 6.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.3275G>A		.	.	.	.	.	.	.	.	.	.	c	36	5.695321	0.96793	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	5.34	5.34	0.76211	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.84483	0.5482	M	0.92268	3.29	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.994	D;D;P	0.85130	0.997;0.957;0.837	D	0.87265	0.2282	10	0.52906	T	0.07	.	19.067	0.93116	0.0:1.0:0.0:0.0	.	1092;1092;1092	E5RIG2;Q96PZ7;Q96PZ7-4	.;CSMD1_HUMAN;.	H	1092;1092;954;1091;1091;1091	ENSP00000383047:R1092H;ENSP00000430733:R1092H;ENSP00000441462:R1091H;ENSP00000446243:R1091H;ENSP00000441675:R1091H	ENSP00000320445:R954H	R	-	2	0	CSMD1	3204113	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.762000	0.62250	2.489000	0.83994	0.550000	0.68814	CGT		0.562	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		7	316	0	0	0	1	0	7	316				
APOB	338	broad.mit.edu	37	2	21231133	21231133	+	Silent	SNP	A	A	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:21231133A>G	ENST00000233242.1	-	26	8734	c.8607T>C	c.(8605-8607)ctT>ctC	p.L2869L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2869					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCATTACTAAGCTCCAGTG	0.393																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(8605-8607)ctT>ctC		apolipoprotein B	Atorvastatin(DB01076)						163.0	164.0	163.0					2																	21231133		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231133A>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8607T>C	2.37:g.21231133A>G							p.L2869L	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	8734	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2869					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.8607T>C	CCDS1703.1																																																																																				0.393	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			9	685	0	0	0	1	0	9	685				
HECTD4	283450	broad.mit.edu	37	12	112642347	112642347	+	Missense_Mutation	SNP	T	T	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:112642347T>G	ENST00000430131.2	-	52	8091	c.6946A>C	c.(6946-6948)Acc>Ccc	p.T2316P	HECTD4_ENST00000377560.5_Missense_Mutation_p.T2566P|HECTD4_ENST00000550722.1_Missense_Mutation_p.T2592P			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2316					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TCTTCAATGGTGGGAAGATAA	0.388																																						ENST00000550722.1																			0											c.(7774-7776)Acc>Ccc		HECT domain containing E3 ubiquitin protein ligase 4							89.0	88.0	88.0					12																	112642347		1872	4105	5977	SO:0001583	missense	283450							g.chr12:112642347T>G	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.6946A>C	12.37:g.112642347T>G	ENSP00000404379:p.Thr2316Pro					HECTD4_ENST00000377560.5_Missense_Mutation_p.T2566P|HECTD4_ENST00000430131.2_Missense_Mutation_p.T2316P	p.T2592P	NM_001109662.3	NP_001103132.3					53	8169	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.7774A>C		.	.	.	.	.	.	.	.	.	.	T	29.9	5.047688	0.93740	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.24350	1.86;1.86;1.86	6.17	6.17	0.99709	.	.	.	.	.	T	0.40171	0.1106	L	0.27053	0.805	0.58432	D	0.999999	D	0.65815	0.995	D	0.72982	0.979	T	0.28106	-1.0054	9	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	2316	Q9Y4D8	K0614_HUMAN	P	2566;2316;2592	ENSP00000366783:T2566P;ENSP00000404379:T2316P;ENSP00000449784:T2592P	ENSP00000366783:T2566P	T	-	1	0	C12orf51	111126730	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.465000	0.80898	2.371000	0.80710	0.533000	0.62120	ACC		0.388	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		15	150	0	0	0	1	0	15	150				
CEP135	9662	broad.mit.edu	37	4	56877620	56877620	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:56877620G>T	ENST00000257287.4	+	20	2672	c.2548G>T	c.(2548-2550)Gaa>Taa	p.E850*		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	850					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					AGAAAAAGAAGAAATGAAGAG	0.333																																						ENST00000257287.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50						c.(2548-2550)Gaa>Taa		centrosomal protein 135kDa							91.0	93.0	93.0					4																	56877620		2203	4300	6503	SO:0001587	stop_gained	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56877620G>T	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.2548G>T	4.37:g.56877620G>T	ENSP00000257287:p.Glu850*						p.E850*	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN			20	2672	+	Glioma(25;0.08)|all_neural(26;0.101)		850					B2RMY0|O75130|Q58F25|Q9H8H7	Nonsense_Mutation	SNP	ENST00000257287.4	37	c.2548G>T	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	G	41	8.869519	0.98984	.	.	ENSG00000174799	ENST00000257287	.	.	.	5.11	5.11	0.69529	.	0.046328	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	18.5341	0.91002	0.0:0.0:1.0:0.0	.	.	.	.	X	850	.	ENSP00000257287:E850X	E	+	1	0	CEP135	56572377	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.811000	0.86092	2.373000	0.80994	0.591000	0.81541	GAA		0.333	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		38	177	1	0	3.7052e-28	1	4.01397e-28	38	177				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						ENST00000358970.5																			12	Substitution - Missense(12)	p.R477Q(12)	endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1429-1431)cGg>cAg		POTE ankyrin domain family, member C							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln						p.R477Q	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1429	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		8	320	0	0	0	1	0	8	320				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	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_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_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		55	180	0	0	0	1	0	55	180				
PRDM4	11108	broad.mit.edu	37	12	108138409	108138409	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:108138409G>A	ENST00000228437.5	-	7	1765	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	436	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						AAGCAAGTCCGCACAGGAATG	0.463																																						ENST00000228437.5																			0				biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(1306-1308)Cgg>Tgg		PR domain containing 4							155.0	134.0	141.0					12																	108138409		2203	4300	6503	SO:0001583	missense	11108				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr12:108138409G>A	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.1306C>T	12.37:g.108138409G>A	ENSP00000228437:p.Arg436Trp					RP11-864J10.4_ENST00000546714.1_RNA	p.R436W	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN			7	1765	-			436			SET.		Q9UFA6	Missense_Mutation	SNP	ENST00000228437.5	37	c.1306C>T	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108122	0.77096	.	.	ENSG00000110851	ENST00000228437;ENST00000550659	T;T	0.41758	0.99;0.99	5.88	4.98	0.66077	SET domain (2);	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	M	0.78049	2.395	0.53688	D	0.999977	D	0.62365	0.991	B	0.43331	0.416	T	0.50980	-0.8763	10	0.54805	T	0.06	-1.7026	8.8668	0.35291	0.0726:0.0:0.6819:0.2455	.	436	Q9UKN5	PRDM4_HUMAN	W	436;188	ENSP00000228437:R436W;ENSP00000449295:R188W	ENSP00000228437:R436W	R	-	1	2	PRDM4	106662539	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.390000	0.52523	1.481000	0.48307	0.655000	0.94253	CGG		0.463	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		5	256	0	0	0	1	0	5	256				
GPR142	350383	broad.mit.edu	37	17	72363648	72363648	+	Missense_Mutation	SNP	A	A	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:72363648A>T	ENST00000335666.4	+	1	52	c.4A>T	c.(4-6)Agt>Tgt	p.S2C		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	2						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GTTAGCAATGAGTATTATGAT	0.527																																						ENST00000335666.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						c.(4-6)Agt>Tgt		G protein-coupled receptor 142							116.0	109.0	112.0					17																	72363648		2203	4300	6503	SO:0001583	missense	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72363648A>T	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.4A>T	17.37:g.72363648A>T	ENSP00000335158:p.Ser2Cys						p.S2C	NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN			1	52	+			2					A4CYJ8|Q86SL3	Missense_Mutation	SNP	ENST00000335666.4	37	c.4A>T	CCDS11698.1	.	.	.	.	.	.	.	.	.	.	A	10.68	1.417868	0.25552	.	.	ENSG00000257008	ENST00000335666	T	0.71817	-0.6	2.61	1.45	0.22620	.	.	.	.	.	T	0.46776	0.1410	N	0.08118	0	0.27124	N	0.962078	P	0.51653	0.947	B	0.40741	0.339	T	0.42032	-0.9475	9	0.87932	D	0	.	6.1442	0.20276	0.773:0.0:0.0:0.227	.	2	Q7Z601	GP142_HUMAN	C	2	ENSP00000335158:S2C	ENSP00000335158:S2C	S	+	1	0	GPR142	69875243	1.000000	0.71417	0.001000	0.08648	0.000000	0.00434	4.243000	0.58721	0.062000	0.16340	-0.343000	0.07986	AGT		0.527	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		50	324	0	0	0	1	0	50	324				
OGDH	4967	broad.mit.edu	37	7	44715672	44715672	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:44715672T>C	ENST00000222673.5	+	9	1172	c.1130T>C	c.(1129-1131)cTt>cCt	p.L377P	OGDH_ENST00000449767.1_Missense_Mutation_p.L373P|OGDH_ENST00000439616.2_Missense_Mutation_p.L227P|OGDH_ENST00000447398.1_Missense_Mutation_p.L388P|OGDH_ENST00000444676.1_Missense_Mutation_p.L392P|OGDH_ENST00000443864.2_Missense_Mutation_p.L377P|OGDH_ENST00000543843.1_Missense_Mutation_p.L328P	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	377					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	CCTTCCCACCTTGAGGCCGCT	0.557																																						ENST00000222673.5																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(1129-1131)cTt>cCt		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)						133.0	115.0	121.0					7																	44715672		2203	4300	6503	SO:0001583	missense	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44715672T>C	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.1130T>C	7.37:g.44715672T>C	ENSP00000222673:p.Leu377Pro					OGDH_ENST00000543843.1_Missense_Mutation_p.L328P|OGDH_ENST00000449767.1_Missense_Mutation_p.L373P|OGDH_ENST00000444676.1_Missense_Mutation_p.L392P|OGDH_ENST00000439616.2_Missense_Mutation_p.L227P|OGDH_ENST00000443864.2_Missense_Mutation_p.L377P|OGDH_ENST00000447398.1_Missense_Mutation_p.L388P	p.L377P	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			9	1172	+			377					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	c.1130T>C	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.306757	0.81247	.	.	ENSG00000105953	ENST00000439616;ENST00000443864;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	D;T;D;D;D;D;D	0.95788	-3.81;2.0;-3.81;-3.81;-3.81;-3.81;-3.81	5.14	5.14	0.70334	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.98738	0.9576	H	0.98996	4.395	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.99521	1.0958	10	0.87932	D	0	-27.6918	14.9242	0.70862	0.0:0.0:0.0:1.0	.	172;227;373;388;279;377;377	B4E3E9;E9PFG7;E9PBM1;E9PDF2;A2VCT2;Q02218;Q96DD3	.;.;.;.;.;ODO1_HUMAN;.	P	227;377;373;388;392;377;328	ENSP00000398576:L227P;ENSP00000388084:L377P;ENSP00000392878:L373P;ENSP00000388183:L388P;ENSP00000414662:L392P;ENSP00000222673:L377P;ENSP00000443821:L328P	ENSP00000222673:L377P	L	+	2	0	OGDH	44682197	1.000000	0.71417	0.987000	0.45799	0.892000	0.51952	7.788000	0.85771	2.063000	0.61619	0.379000	0.24179	CTT		0.557	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			71	410	0	0	0	1	0	71	410				
STK32A	202374	broad.mit.edu	37	5	146750320	146750320	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr5:146750320C>A	ENST00000397936.3	+	9	1097	c.764C>A	c.(763-765)tCa>tAa	p.S255*	STK32A_ENST00000398523.3_Nonsense_Mutation_p.S255*	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	255	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAATGGTGTCACTTCTTAAA	0.418																																						ENST00000397936.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13						c.(763-765)tCa>tAa		serine/threonine kinase 32A							152.0	131.0	138.0					5																	146750320		1568	3582	5150	SO:0001587	stop_gained	202374						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr5:146750320C>A		CCDS47299.1, CCDS75351.1	5q32	2008-02-05			ENSG00000169302	ENSG00000169302			28317	protein-coding gene	gene with protein product						12477932	Standard	NM_001112724		Approved	MGC22688, YANK1	uc010jgn.1	Q8WU08	OTTHUMG00000163411	ENST00000397936.3:c.764C>A	5.37:g.146750320C>A	ENSP00000381030:p.Ser255*					STK32A_ENST00000398523.3_Nonsense_Mutation_p.S255*	p.S255*	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	1097	+			255			Protein kinase.		B3KSY0	Nonsense_Mutation	SNP	ENST00000397936.3	37	c.764C>A	CCDS47299.1	.	.	.	.	.	.	.	.	.	.	C	38	6.721010	0.97788	.	.	ENSG00000169302	ENST00000397936;ENST00000398523	.	.	.	5.52	5.52	0.82312	.	0.191964	0.25885	N	0.027664	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.563	0.91107	0.0:1.0:0.0:0.0	.	.	.	.	X	255	.	ENSP00000381030:S255X	S	+	2	0	STK32A	146730513	0.999000	0.42202	1.000000	0.80357	0.977000	0.68977	4.191000	0.58372	2.761000	0.94854	0.655000	0.94253	TCA		0.418	STK32A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373306.1	NM_145001		70	308	1	0	1.74474e-33	1	1.89847e-33	70	308				
BCAN	63827	broad.mit.edu	37	1	156621427	156621427	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:156621427G>A	ENST00000329117.5	+	7	1579	c.1243G>A	c.(1243-1245)Gga>Aga	p.G415R	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.G415R	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	415	Glu-rich.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGAGGACGGAGGAGGTGGAAG	0.557																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(1243-1245)Gga>Aga		brevican							90.0	89.0	89.0					1																	156621427		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156621427G>A	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1243G>A	1.37:g.156621427G>A	ENSP00000331210:p.Gly415Arg					RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.G415R	p.G415R	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			7	1579	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		415			Glu-rich.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.1243G>A	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.292944	0.23564	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000361588	T;T	0.13196	2.61;3.33	5.17	3.16	0.36331	.	0.777525	0.10979	N	0.612889	T	0.02193	0.0068	N	0.11201	0.11	0.09310	N	1	B;B	0.15473	0.006;0.013	B;B	0.14578	0.005;0.011	T	0.43940	-0.9360	10	0.15066	T	0.55	-0.351	11.1054	0.48199	0.1755:0.0:0.8245:0.0	.	415;415	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	R	354;415;415	ENSP00000331210:G415R;ENSP00000354925:G415R	ENSP00000255029:G354R	G	+	1	0	BCAN	154888051	0.011000	0.17503	0.672000	0.29872	0.985000	0.73830	1.976000	0.40579	1.418000	0.47098	0.655000	0.94253	GGA		0.557	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		88	437	0	0	0	1	0	88	437				
ZNF835	90485	broad.mit.edu	37	19	57175831	57175831	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:57175831C>T	ENST00000537055.2	-	2	967	c.736G>A	c.(736-738)Ggt>Agt	p.G246S		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	246					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(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGCTTCTCACCGGTGTGGATG	0.692																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(736-738)Ggt>Agt		zinc finger protein 835							40.0	39.0	39.0					19																	57175831		2203	4299	6502	SO:0001583	missense	90485							g.chr19:57175831C>T	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.736G>A	19.37:g.57175831C>T	ENSP00000444747:p.Gly246Ser						p.G246S	NM_001005850.2	NP_001005850.2					2	967	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.736G>A	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	C	33	5.267381	0.95399	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.25085	1.82	2.12	2.12	0.27331	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39963	0.1098	L	0.43152	1.355	0.31918	N	0.61385	D	0.89917	1.0	D	0.83275	0.996	T	0.46857	-0.9161	9	0.87932	D	0	.	10.2869	0.43573	0.0:1.0:0.0:0.0	.	268	Q9Y2P0	ZN835_HUMAN	S	268;246	ENSP00000444747:G246S	ENSP00000341756:G268S	G	-	1	0	ZNF835	61867643	0.002000	0.14202	0.005000	0.12908	0.717000	0.41224	1.681000	0.37618	1.506000	0.48736	0.561000	0.74099	GGT		0.692	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		16	122	0	0	0	1	0	16	122				
ATP5F1	515	broad.mit.edu	37	1	111992194	111992194	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:111992194G>A	ENST00000369722.3	+	1	637	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	WDR77_ENST00000497278.1_5'Flank|Y_RNA_ENST00000363020.1_RNA|WDR77_ENST00000235090.5_5'Flank|WDR77_ENST00000411751.2_5'Flank|ATP5F1_ENST00000369721.4_3'UTR|ATP5F1_ENST00000483994.1_Missense_Mutation_p.A11T	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	11					ATP catabolic process (GO:0006200)|ATP synthesis coupled proton transport (GO:0015986)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		TTCCGCCGCCGCCACAGCGGG	0.577																																						ENST00000369722.3																			0				breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						c.(31-33)Gcc>Acc		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1							76.0	78.0	77.0					1																	111992194		2203	4300	6503	SO:0001583	missense	515				ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding	g.chr1:111992194G>A	X60221	CCDS836.1	1p13.2	2012-10-12	2010-06-11		ENSG00000116459	ENSG00000116459		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	840	protein-coding gene	gene with protein product		603270	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1"""			1831354	Standard	XM_005270929		Approved		uc001ebc.3	P24539	OTTHUMG00000011745	ENST00000369722.3:c.31G>A	1.37:g.111992194G>A	ENSP00000358737:p.Ala11Thr					ATP5F1_ENST00000483994.1_Missense_Mutation_p.A11T|ATP5F1_ENST00000369721.4_3'UTR	p.A11T	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	637	+		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	11					Q9BQ68|Q9BRU8	Missense_Mutation	SNP	ENST00000369722.3	37	c.31G>A	CCDS836.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843991	0.71488	.	.	ENSG00000116459	ENST00000369722;ENST00000483994	T;T	0.31510	1.49;1.51	5.73	4.82	0.62117	.	0.250346	0.33650	N	0.004681	T	0.09202	0.0227	L	0.54323	1.7	0.20074	N	0.999938	P;P	0.48640	0.913;0.913	B;B	0.28385	0.089;0.089	T	0.11817	-1.0572	10	0.24483	T	0.36	.	11.2813	0.49197	0.0844:0.0:0.9156:0.0	.	11;11	Q08ET0;P24539	.;AT5F1_HUMAN	T	11	ENSP00000358737:A11T;ENSP00000420366:A11T	ENSP00000358737:A11T	A	+	1	0	ATP5F1	111793717	0.986000	0.35501	1.000000	0.80357	0.867000	0.49689	2.836000	0.48183	1.562000	0.49601	0.655000	0.94253	GCC		0.577	ATP5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032455.1	NM_001688		6	450	0	0	0	1	0	6	450				
CECR2	27443	broad.mit.edu	37	22	18021889	18021889	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr22:18021889C>T	ENST00000400585.2	+	16	2006	c.1568C>T	c.(1567-1569)aCa>aTa	p.T523I	CECR2_ENST00000400573.5_Missense_Mutation_p.T664I|CECR2_ENST00000262608.8_Missense_Mutation_p.T665I			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	706					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGGCTAGGCACACCAGAGGAG	0.547																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(1993-1995)aCa>aTa		cat eye syndrome chromosome region, candidate 2							34.0	35.0	35.0					22																	18021889		1997	4153	6150	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18021889C>T	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1568C>T	22.37:g.18021889C>T	ENSP00000383428:p.Thr523Ile					CECR2_ENST00000400585.2_Missense_Mutation_p.T523I|CECR2_ENST00000400573.4_Missense_Mutation_p.T664I	p.T665I	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	1994	+		all_epithelial(15;0.139)	706					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.1994C>T		.	.	.	.	.	.	.	.	.	.	C	4.046	0.006138	0.07866	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.26223	1.88;1.87;1.75	5.28	3.1	0.35709	.	1.079560	0.07208	N	0.858745	T	0.25195	0.0612	L	0.51422	1.61	0.09310	N	1	B;B;B	0.23442	0.085;0.049;0.029	B;B;B	0.14023	0.01;0.01;0.01	T	0.17684	-1.0361	10	0.29301	T	0.29	-0.0068	10.7002	0.45922	0.0:0.7801:0.0:0.2199	.	706;523;664	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	I	523;664;665	ENSP00000383428:T523I;ENSP00000383417:T664I;ENSP00000262608:T665I	ENSP00000262608:T665I	T	+	2	0	CECR2	16401889	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.558000	0.23469	1.467000	0.48044	0.655000	0.94253	ACA		0.547	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		9	77	0	0	0	1	0	9	77				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	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			6	118	0	0	0	1	0	6	118				
KIAA0408	9729	broad.mit.edu	37	6	127771349	127771349	+	Missense_Mutation	SNP	G	G	A	rs551811170	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr6:127771349G>A	ENST00000483725.3	-	3	620	c.284C>T	c.(283-285)aCg>aTg	p.T95M	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000368268.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	95								p.T95M(1)		endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TTTGTGATTCGTCCTTATAAA	0.358													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		18584	0.0		0.0	False		,,,				2504	0.0					ENST00000483725.3																			1	Substitution - Missense(1)	p.T95M(1)	pancreas(1)	endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(283-285)aCg>aTg		KIAA0408							125.0	126.0	125.0					6																	127771349		2203	4300	6503	SO:0001583	missense	9729						protein binding	g.chr6:127771349G>A	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.284C>T	6.37:g.127771349G>A	ENSP00000435150:p.Thr95Met					SOGA3_ENST00000368268.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	p.T95M	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	3	620	-			95					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Missense_Mutation	SNP	ENST00000483725.3	37	c.284C>T	CCDS34531.1	.	.	.	.	.	.	.	.	.	.	G	0.313	-0.966787	0.02232	.	.	ENSG00000189367	ENST00000483725;ENST00000487331	T;T	0.43294	0.95;0.95	5.7	3.22	0.36961	.	0.603786	0.12642	N	0.451213	T	0.04952	0.0133	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38628	-0.9652	10	0.30078	T	0.28	0.4989	7.4927	0.27471	0.766:0.0:0.234:0.0	.	95	Q6ZU52	K0408_HUMAN	M	95;107	ENSP00000435150:T95M;ENSP00000434384:T107M	ENSP00000435150:T95M	T	-	2	0	KIAA0408	127813042	0.001000	0.12720	0.008000	0.14137	0.002000	0.02628	0.957000	0.29215	0.978000	0.38470	-0.300000	0.09419	ACG		0.358	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		6	430	0	0	0	1	0	6	430				
BAGE2	85319	broad.mit.edu	37	21	11098773	11098773	+	RNA	SNP	G	G	A	rs77771067	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr21:11098773G>A	ENST00000470054.1	-	0	152							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)		cgctcaggccgccctcctaac	0.627													-|||	2	0.000399361	0.0015	0.0	5008	,	,		42901	0.0		0.0	False		,,,				2504	0.0					ENST00000470054.1																			0													B melanoma antigen family, member 2		G		3,4281		0,3,2139	82.0	116.0	105.0				0.0	21	dbSNP_131	105	1,8543		0,1,4271	no	intergenic				0,4,6410	AA,AG,GG		0.0117,0.07,0.0312			11098773	4,12824	2142	4272	6414			85319							g.chr21:11098773G>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.11098773G>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	152	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.627	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		51	727	0	0	0	1	0	51	727				
MIR509-1	574514	broad.mit.edu	37	X	146342062	146342062	+	RNA	SNP	A	A	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:146342062A>T	ENST00000385265.1	-	0	81				MIR509-2_ENST00000390724.1_RNA|MIR509-3_ENST00000390725.1_RNA	NR_030236.1|NR_030586.1				microRNA 509-1																		TGTGTCATGCAGTACTCTACC	0.453																																						ENST00000385265.1																			0																				171.0	136.0	147.0					X																	146342062		1568	3582	5150			0							g.chrX:146342062A>T			Xq27.3	2011-09-12	2007-10-23	2008-12-18	ENSG00000208000	ENSG00000208000		"""ncRNAs / Micro RNAs"""	32146	non-coding RNA	RNA, micro		300875	"""microRNA 509"""	MIRN509, MIRN509-1			Standard	NR_030236		Approved	hsa-mir-509, hsa-mir-509-1	uc022cfy.1				X.37:g.146342062A>T								NR_030236.1|NR_030586.1						0	81	-									RNA	SNP	ENST00000385265.1	37																																																																																						0.453	MIR509-1-201	KNOWN	basic	miRNA	miRNA		NR_030236		155	735	0	0	0	1	0	155	735				
CACNA1D	776	broad.mit.edu	37	3	53752385	53752385	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:53752385G>T	ENST00000350061.5	+	10	1959	c.1448G>T	c.(1447-1449)gGc>gTc	p.G483V	CACNA1D_ENST00000422281.2_Missense_Mutation_p.G483V|CACNA1D_ENST00000288139.4_Missense_Mutation_p.G483V	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	483					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGCGGTGAAGGCGAGAACCGA	0.592																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(1447-1449)gGc>gTc		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						136.0	115.0	122.0					3																	53752385		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53752385G>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.1448G>T	3.37:g.53752385G>T	ENSP00000288133:p.Gly483Val					CACNA1D_ENST00000422281.2_Missense_Mutation_p.G483V|CACNA1D_ENST00000350061.5_Missense_Mutation_p.G483V	p.G483V	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	10	1566	+			483					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.1448G>T	CCDS46848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.02|10.02	1.235118|1.235118	0.22626|0.22626	.|.	.|.	ENSG00000157388|ENSG00000157388	ENST00000481085|ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	.|D;D;D;D	.|0.93712	.|-3.27;-3.27;-3.27;-3.27	5.44|5.44	4.57|4.57	0.56435|0.56435	.|.	.|153.860000	.|0.00166	.|N	.|0.000000	D|D	0.89853|0.89853	0.6835|0.6835	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.25486	.|0.01;0.001;0.002;0.127	.|B;B;B;B	.|0.28305	.|0.01;0.002;0.008;0.088	T|T	0.69544|0.69544	-0.5117|-0.5117	5|10	.|0.39692	.|T	.|0.17	.|.	10.5212|10.5212	0.44920|0.44920	0.0:0.1448:0.7048:0.1504|0.0:0.1448:0.7048:0.1504	.|.	.|483;156;483;483	.|B0FYA3;Q59GD8;Q01668;Q01668-2	.|.;.;CAC1D_HUMAN;.	S|V	197|483;483;483;156	.|ENSP00000288133:G483V;ENSP00000288139:G483V;ENSP00000409174:G483V;ENSP00000418014:G156V	.|ENSP00000288139:G483V	A|G	+|+	1|2	0|0	CACNA1D|CACNA1D	53727425|53727425	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.433000|0.433000	0.31745|0.31745	3.391000|3.391000	0.52530|0.52530	1.292000|1.292000	0.44672|0.44672	-0.150000|-0.150000	0.13652|0.13652	GCG|GGC		0.592	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		76	236	1	0	1.48481e-22	1	1.59456e-22	76	236				
MYO3A	53904	broad.mit.edu	37	10	26434386	26434386	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr10:26434386G>A	ENST00000265944.5	+	22	2594	c.2428G>A	c.(2428-2430)Ggt>Agt	p.G810S	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	810	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAAATTTGAAGGTAACCTGAA	0.313																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(2428-2430)Ggt>Agt		myosin IIIA							60.0	60.0	60.0					10																	26434386		2203	4298	6501	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26434386G>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2428G>A	10.37:g.26434386G>A	ENSP00000265944:p.Gly810Ser					MYO3A_ENST00000543632.1_Intron	p.G810S	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			22	2594	+			810			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.2428G>A	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325787	0.60743	.	.	ENSG00000095777	ENST00000265944	T	0.70164	-0.46	5.72	3.72	0.42706	Myosin head, motor domain (2);	0.357715	0.33144	N	0.005222	T	0.48223	0.1488	N	0.11023	0.085	0.80722	D	1	B	0.26547	0.152	B	0.32928	0.155	T	0.44205	-0.9343	10	0.34782	T	0.22	.	11.4508	0.50151	0.1574:0.0:0.8426:0.0	.	810	Q8NEV4	MYO3A_HUMAN	S	810	ENSP00000265944:G810S	ENSP00000265944:G810S	G	+	1	0	MYO3A	26474392	1.000000	0.71417	0.957000	0.39632	0.999000	0.98932	5.647000	0.67923	1.276000	0.44395	0.655000	0.94253	GGT		0.313	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		22	127	0	0	0	1	0	22	127				
LRRC8A	56262	broad.mit.edu	37	9	131669884	131669884	+	Silent	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr9:131669884G>A	ENST00000259324.5	+	3	964	c.441G>A	c.(439-441)ccG>ccA	p.P147P	LRRC8A_ENST00000372599.3_Silent_p.P147P|LRRC8A_ENST00000372600.4_Silent_p.P147P	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	147					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TCAAATTCCCGCGCACCAGCT	0.572																																						ENST00000259324.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						c.(439-441)ccG>ccA		leucine rich repeat containing 8 family, member A							74.0	72.0	73.0					9																	131669884		2203	4300	6503	SO:0001819	synonymous_variant	56262				pre-B cell differentiation	integral to membrane		g.chr9:131669884G>A	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.441G>A	9.37:g.131669884G>A						LRRC8A_ENST00000372600.4_Silent_p.P147P|LRRC8A_ENST00000372599.3_Silent_p.P147P	p.P147P	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN			3	964	+			147					Q6UXM2|Q8NCI0|Q9P2B1	Silent	SNP	ENST00000259324.5	37	c.441G>A	CCDS35155.1																																																																																				0.572	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		43	157	0	0	0	1	0	43	157				
ADCY5	111	broad.mit.edu	37	3	123021980	123021980	+	Silent	SNP	C	C	T	rs148384901		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:123021980C>T	ENST00000462833.1	-	14	3858	c.2646G>A	c.(2644-2646)gcG>gcA	p.A882A	ADCY5_ENST00000491190.1_Silent_p.A515A|ADCY5_ENST00000309879.5_Silent_p.A532A	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	882					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CGGCCGACTCCGCCACGTGAC	0.652																																						ENST00000462833.1																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(2644-2646)gcG>gcA		adenylate cyclase 5		C	,	1,4405	2.1+/-5.4	0,1,2202	59.0	53.0	55.0		1596,2646	1.1	1.0	3	dbSNP_134	55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ADCY5	NM_001199642.1,NM_183357.2	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	532/912,882/1262	123021980	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123021980C>T	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.2646G>A	3.37:g.123021980C>T						ADCY5_ENST00000491190.1_Silent_p.A515A|ADCY5_ENST00000309879.5_Silent_p.A532A	p.A882A	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	14	3858	-			882					B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	ENST00000462833.1	37	c.2646G>A	CCDS3022.1																																																																																				0.652	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		43	167	0	0	0	1	0	43	167				
FPR2	2358	broad.mit.edu	37	19	52272706	52272706	+	Silent	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:52272706C>T	ENST00000598776.1	+	2	1567	c.795C>T	c.(793-795)acC>acT	p.T265T	FPR2_ENST00000598953.1_Silent_p.T265T|FPR2_ENST00000340023.6_Silent_p.T265T	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	265					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TTCTGGGCACCGTCTGGCTCA	0.502																																						ENST00000598776.1																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(793-795)acC>acT		formyl peptide receptor 2							125.0	106.0	112.0					19																	52272706		2203	4300	6503	SO:0001819	synonymous_variant	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272706C>T	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.795C>T	19.37:g.52272706C>T						FPR2_ENST00000598953.1_Silent_p.T265T|FPR2_ENST00000340023.6_Silent_p.T265T	p.T265T	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN			2	1567	+			265					A8K3E2	Silent	SNP	ENST00000598776.1	37	c.795C>T	CCDS12840.1																																																																																				0.502	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		45	160	0	0	0	1	0	45	160				
AFMID	125061	broad.mit.edu	37	17	76187132	76187132	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:76187132G>T	ENST00000586731.1	+	2	115	c.94G>T	c.(94-96)Gga>Tga	p.G32*	AFMID_ENST00000588800.1_Nonsense_Mutation_p.G49*|AFMID_ENST00000409257.5_Nonsense_Mutation_p.G49*|AFMID_ENST00000591952.1_Nonsense_Mutation_p.G49*|AFMID_ENST00000327898.5_Nonsense_Mutation_p.G49*|AFMID_ENST00000589256.1_Nonsense_Mutation_p.G49*					arylformamidase											autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CTCACAGATAGGAATTGAAGG	0.557																																						ENST00000409257.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19						c.(145-147)Gga>Tga		arylformamidase							144.0	100.0	115.0					17																	76187132		2203	4300	6503	SO:0001587	stop_gained	125061					cytosol|nucleus	arylformamidase activity	g.chr17:76187132G>T	BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000586731.1:c.94G>T	17.37:g.76187132G>T	ENSP00000466241:p.Gly32*					AFMID_ENST00000588800.1_Nonsense_Mutation_p.G49*|AFMID_ENST00000327898.5_Nonsense_Mutation_p.G49*|AFMID_ENST00000586731.1_Nonsense_Mutation_p.G32*|AFMID_ENST00000589256.1_Nonsense_Mutation_p.G49*|AFMID_ENST00000591952.1_Nonsense_Mutation_p.G49*	p.G49*	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)		2	199	+			49						Nonsense_Mutation	SNP	ENST00000586731.1	37	c.145G>T		.	.	.	.	.	.	.	.	.	.	G	34	5.309732	0.95629	.	.	ENSG00000183077	ENST00000409257;ENST00000409431;ENST00000409722;ENST00000392388;ENST00000327898	.	.	.	4.9	3.86	0.44501	.	0.483859	0.21363	N	0.075763	.	.	.	.	.	.	0.38453	D	0.947022	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-12.3045	4.8598	0.13577	0.1436:0.2108:0.6456:0.0	.	.	.	.	X	49	.	ENSP00000328938:G49X	G	+	1	0	AFMID	73698727	0.755000	0.28372	0.050000	0.19076	0.691000	0.40173	1.557000	0.36299	2.224000	0.72417	0.609000	0.83330	GGA		0.557	AFMID-015	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000438866.1	XM_058889		6	184	1	0	0.00198382	1	0.00201647	6	184				
CBWD6	644019	broad.mit.edu	37	9	69247529	69247529	+	Silent	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr9:69247529G>A	ENST00000377457.5	-	5	588	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD6_ENST00000382399.4_Intron|CBWD6_ENST00000377449.1_Silent_p.Y125Y	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	161							ATP binding (GO:0005524)	p.Y161Y(1)		lung(4)	4						TACCATCAAGGTAAATATCAC	0.299																																						ENST00000377457.5																			1	Substitution - coding silent(1)	p.Y161Y(1)	lung(1)	lung(4)	4						c.(481-483)taC>taT		COBW domain containing 6																																				SO:0001819	synonymous_variant	644019						ATP binding	g.chr9:69247529G>A		CCDS43827.1	9q13	2006-06-30			ENSG00000204790	ENSG00000204790			31978	protein-coding gene	gene with protein product							Standard	NM_001085457		Approved	OTTHUMG00000066820	uc004afj.4	Q4V339	OTTHUMG00000066820	ENST00000377457.5:c.483C>T	9.37:g.69247529G>A						CBWD6_ENST00000377449.1_Silent_p.Y125Y|CBWD6_ENST00000382399.4_Intron	p.Y161Y	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN			5	588	-			161						Silent	SNP	ENST00000377457.5	37	c.483C>T	CCDS43827.1																																																																																				0.299	CBWD6-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143172.2	XM_928822		6	478	0	0	0	1	0	6	478				
KRTAP5-4	387267	broad.mit.edu	37	11	1643049	1643049	+	Missense_Mutation	SNP	A	A	C	rs200027081		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:1643049A>C	ENST00000399682.1	-	1	319	c.275T>G	c.(274-276)gTc>gGc	p.V92G		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.V92G(2)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCACAGGAGACACAGCCCCC	0.682																																						ENST00000399682.1																			2	Substitution - Missense(2)	p.V92G(2)	endometrium(2)	NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(274-276)gTc>gGc		keratin associated protein 5-4																																				SO:0001583	missense	387267					keratin filament		g.chr11:1643049A>C	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.275T>G	11.37:g.1643049A>C	ENSP00000382590:p.Val92Gly						p.V92G	NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	319	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	92			9 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000399682.1	37	c.275T>G		.	.	.	.	.	.	.	.	.	.	a	0.045	-1.268581	0.01433	.	.	ENSG00000241598	ENST00000399682;ENST00000328953	T	0.00678	5.87	1.97	1.02	0.19986	.	.	.	.	.	T	0.00178	0.0005	N	0.00008	-3.125	0.39754	D	0.971927	B	0.02656	0.0	B	0.01281	0.0	T	0.45673	-0.9245	9	0.23302	T	0.38	.	7.7364	0.28817	0.2529:0.7471:0.0:0.0	.	152	Q6L8H1	KRA54_HUMAN	G	92	ENSP00000382590:V92G	ENSP00000331603:V92G	V	-	2	0	KRTAP5-4	1599625	0.645000	0.27286	0.937000	0.37676	0.105000	0.19272	-0.096000	0.11059	0.380000	0.24823	-0.328000	0.08392	GTC		0.682	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		7	248	0	0	0	1	0	7	248				
TGFBR2	7048	broad.mit.edu	37	3	30713171	30713171	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:30713171C>T	ENST00000295754.5	+	4	878	c.496C>T	c.(496-498)Caa>Taa	p.Q166*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.Q191*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	166					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						AGTCATATTTCAAGTGACAGG	0.473																																						ENST00000295754.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						c.(496-498)Caa>Taa		transforming growth factor, beta receptor II (70/80kDa)							112.0	98.0	103.0					3																	30713171		2203	4300	6503	SO:0001587	stop_gained	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30713171C>T		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.496C>T	3.37:g.30713171C>T	ENSP00000295754:p.Gln166*					TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.Q191*	p.Q166*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			4	878	+			166					B4DTV5|Q15580|Q6DKT6|Q99474	Nonsense_Mutation	SNP	ENST00000295754.5	37	c.496C>T	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	C	38	6.940423	0.97952	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000383765;ENST00000439925	.	.	.	4.86	3.91	0.45181	.	0.557577	0.20898	N	0.083695	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	12.5905	0.56439	0.231:0.769:0.0:0.0	.	.	.	.	X	166;191;68;32	.	ENSP00000295754:Q166X	Q	+	1	0	TGFBR2	30688175	1.000000	0.71417	0.989000	0.46669	0.920000	0.55202	2.769000	0.47654	2.508000	0.84585	0.655000	0.94253	CAA		0.473	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			49	148	0	0	0	1	0	49	148				
LRRC2	79442	broad.mit.edu	37	3	46563080	46563080	+	Missense_Mutation	SNP	C	C	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:46563080C>G	ENST00000395905.3	-	8	1390	c.998G>C	c.(997-999)aGt>aCt	p.S333T	LRRC2_ENST00000296144.3_Missense_Mutation_p.S333T	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	333										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		ATCCCGTTCACTTTCCATTAT	0.328																																						ENST00000395905.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17						c.(997-999)aGt>aCt		leucine rich repeat containing 2							114.0	112.0	113.0					3																	46563080		2203	4300	6503	SO:0001583	missense	79442							g.chr3:46563080C>G	AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"""leucine-rich repeat-containing 2"""			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.998G>C	3.37:g.46563080C>G	ENSP00000379241:p.Ser333Thr					LRRC2_ENST00000296144.3_Missense_Mutation_p.S333T	p.S333T	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)	8	1390	-		Ovarian(412;0.0563)	333					B2RDQ7|Q96LT5	Missense_Mutation	SNP	ENST00000395905.3	37	c.998G>C	CCDS2741.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.554666	0.27739	.	.	ENSG00000163827	ENST00000395905;ENST00000296144	T;T	0.17854	2.25;2.25	4.56	3.67	0.42095	.	0.161627	0.41097	N	0.000942	T	0.13457	0.0326	L	0.40543	1.245	0.32701	N	0.512847	B	0.06786	0.001	B	0.08055	0.003	T	0.13845	-1.0494	10	0.14656	T	0.56	.	12.2733	0.54719	0.0:0.8089:0.1911:0.0	.	333	Q9BYS8	LRRC2_HUMAN	T	333	ENSP00000379241:S333T;ENSP00000296144:S333T	ENSP00000296144:S333T	S	-	2	0	LRRC2	46538084	0.998000	0.40836	0.863000	0.33907	0.897000	0.52465	0.599000	0.24089	1.245000	0.43885	0.591000	0.81541	AGT		0.328	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2			5	189	0	0	0	1	0	5	189				
RP11-24M17.5	0	broad.mit.edu	37	15	76074504	76074504	+	RNA	SNP	C	C	T	rs146281026	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr15:76074504C>T	ENST00000395215.3	+	0	683				RN7SL319P_ENST00000480656.2_RNA																							TGAACGCACACGTGACACAGG	0.572													.|||	95	0.0189696	0.0121	0.0159	5008	,	,		16950	0.0635		0.001	False		,,,				2504	0.0031					ENST00000395215.3																			0																																																			0							g.chr15:76074504C>T																													15.37:g.76074504C>T														0	683	+									RNA	SNP	ENST00000395215.3	37																																																																																						0.572	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			4	168	0	0	0	1	0	4	168				
BECN1	8678	broad.mit.edu	37	17	40967986	40967986	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:40967986G>A	ENST00000361523.4	-	8	902	c.770C>T	c.(769-771)gCc>gTc	p.A257V	BECN1_ENST00000438274.3_Missense_Mutation_p.A181V|BECN1_ENST00000590099.1_Missense_Mutation_p.A257V	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	257					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CTGCGTCTGGGCATAACGCAT	0.463																																						ENST00000361523.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13						c.(769-771)gCc>gTc		beclin 1, autophagy related							241.0	204.0	216.0					17																	40967986		2203	4300	6503	SO:0001583	missense	8678				anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding	g.chr17:40967986G>A	AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"""ATG6 autophagy related 6 homolog (S. cerevisiae)"""	604378	"""beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"""			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.770C>T	17.37:g.40967986G>A	ENSP00000355231:p.Ala257Val					BECN1_ENST00000438274.3_Missense_Mutation_p.A181V|BECN1_ENST00000590099.1_Missense_Mutation_p.A257V	p.A257V	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0745)	8	902	-		Breast(137;0.00104)	257					B2R6N7|O75595|Q9UNA8	Missense_Mutation	SNP	ENST00000361523.4	37	c.770C>T	CCDS11441.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830695	0.50845	.	.	ENSG00000126581	ENST00000361523;ENST00000438274;ENST00000543382	T;T	0.46451	0.87;2.55	5.95	5.95	0.96441	.	0.171847	0.52532	D	0.000064	T	0.34978	0.0916	L	0.33339	1.005	0.58432	D	0.999994	B;B	0.32188	0.359;0.024	B;B	0.29663	0.105;0.094	T	0.07083	-1.0791	10	0.18710	T	0.47	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	181;257	E7EV84;Q14457	.;BECN1_HUMAN	V	257;181;170	ENSP00000355231:A257V;ENSP00000416173:A181V	ENSP00000355231:A257V	A	-	2	0	BECN1	38221512	1.000000	0.71417	1.000000	0.80357	0.144000	0.21451	6.847000	0.75404	2.824000	0.97209	0.655000	0.94253	GCC		0.463	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452405.1	NM_003766		7	376	0	0	0	1	0	7	376				
COL5A2	1290	broad.mit.edu	37	2	189917736	189917736	+	Silent	SNP	G	G	A	rs148430780	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:189917736G>A	ENST00000374866.3	-	39	2836	c.2562C>T	c.(2560-2562)gaC>gaT	p.D854D		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	854					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CAGGCTGTCCGTCAGGACCCT	0.398													G|||	9	0.00179712	0.0	0.0043	5008	,	,		16388	0.0		0.005	False		,,,				2504	0.001					ENST00000374866.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(2560-2562)gaC>gaT		collagen, type V, alpha 2		G		1,4405	2.1+/-5.4	0,1,2202	58.0	55.0	56.0		2562	-0.1	1.0	2	dbSNP_134	56	32,8568	21.0+/-64.5	0,32,4268	no	coding-synonymous	COL5A2	NM_000393.3		0,33,6470	AA,AG,GG		0.3721,0.0227,0.2537		854/1500	189917736	33,12973	2203	4300	6503	SO:0001819	synonymous_variant	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189917736G>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2562C>T	2.37:g.189917736G>A							p.D854D	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		39	2836	-			854					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Silent	SNP	ENST00000374866.3	37	c.2562C>T	CCDS33350.1																																																																																				0.398	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		52	210	0	0	0	1	0	52	210				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627																																						ENST00000391415.1																			1	Substitution - Missense(1)	p.D18V(1)	endometrium(1)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(52-54)gAc>gTc		keratin associated protein 4-9							18.0	22.0	21.0					17																	39261693		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261693A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.53A>T	17.37:g.39261693A>T	ENSP00000375234:p.Asp18Val						p.D18V	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	110	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.53A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.082	0.383461	0.11524	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32272	1.46	2.51	0.174	0.15040	.	.	.	.	.	T	0.25865	0.0630	M	0.64404	1.975	0.30580	P	0.762648	B	0.17852	0.024	B	0.14023	0.01	T	0.23154	-1.0196	8	0.45353	T	0.12	.	3.5681	0.07907	0.2702:0.2037:0.5261:0.0	.	18	Q9BYQ8	KRA49_HUMAN	V	18	ENSP00000375234:D18V	ENSP00000334461:D18V	D	+	2	0	KRTAP4-9	36515219	0.000000	0.05858	0.388000	0.26195	0.320000	0.28249	0.098000	0.15189	-0.245000	0.09625	0.155000	0.16302	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		10	142	0	0	0	1	0	10	142				
ARHGAP36	158763	broad.mit.edu	37	X	130218925	130218925	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:130218925T>C	ENST00000276211.5	+	7	1187	c.842T>C	c.(841-843)cTg>cCg	p.L281P	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.L269P|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.L145P	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	281	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GATGTAGTGCTGGATGACAAT	0.488																																						ENST00000276211.5																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						c.(841-843)cTg>cCg		Rho GTPase activating protein 36							197.0	162.0	174.0					X																	130218925		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130218925T>C		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.842T>C	X.37:g.130218925T>C	ENSP00000276211:p.Leu281Pro					ARHGAP36_ENST00000370922.1_Missense_Mutation_p.L269P|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.L145P	p.L281P	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN			7	1187	+			281			Rho-GAP.		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.842T>C	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.378294	0.82682	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.16	5.16	0.70880	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.187606	0.26397	N	0.024602	T	0.65186	0.2667	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.988;0.988;0.987	T	0.68876	-0.5293	10	0.52906	T	0.07	.	10.0987	0.42491	0.0:0.0:0.0:1.0	.	250;269;281	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	P	281;269;250;145	ENSP00000276211:L281P;ENSP00000359960:L269P;ENSP00000408515:L250P;ENSP00000359959:L145P	ENSP00000276211:L281P	L	+	2	0	ARHGAP36	130046606	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.818000	0.75257	1.909000	0.55274	0.356000	0.21956	CTG		0.488	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		113	548	0	0	0	1	0	113	548				
LILRB4	11006	broad.mit.edu	37	19	55179342	55179342	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:55179342C>T	ENST00000391736.1	+	14	1534	c.1219C>T	c.(1219-1221)Ccc>Tcc	p.P407S	LILRB4_ENST00000391734.3_Missense_Mutation_p.P354S|LILRB4_ENST00000391733.3_Missense_Mutation_p.P408S|LILRB4_ENST00000270452.2_Missense_Mutation_p.P407S|LILRB4_ENST00000430952.2_Missense_Mutation_p.P406S	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	407					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.P407S(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		ATCTGAAGCCCCCCAGGATGT	0.647																																						ENST00000391736.1																			1	Substitution - Missense(1)	p.P407S(1)	lung(1)	breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39						c.(1219-1221)Ccc>Tcc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4							62.0	67.0	66.0					19																	55179342		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55179342C>T	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1219C>T	19.37:g.55179342C>T	ENSP00000375616:p.Pro407Ser					LILRB4_ENST00000270452.2_Missense_Mutation_p.P407S|LILRB4_ENST00000391733.3_Missense_Mutation_p.P408S|LILRB4_ENST00000391734.3_Missense_Mutation_p.P354S|LILRB4_ENST00000430952.2_Missense_Mutation_p.P406S	p.P407S	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	14	1534	+			407					A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	c.1219C>T	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.556618	0.27827	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733	T;T;T;T;T	0.00505	7.11;7.11;7.11;6.93;7.12	2.07	2.07	0.26955	.	.	.	.	.	T	0.00906	0.0030	L	0.48935	1.535	0.20764	N	0.999854	D;D;B;B	0.76494	0.999;0.999;0.007;0.001	D;D;B;B	0.76575	0.972;0.988;0.01;0.001	T	0.57946	-0.7723	9	0.22706	T	0.39	.	7.5752	0.27931	0.0:1.0:0.0:0.0	.	354;408;406;407	A8MUE1;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;LIRB4_HUMAN	S	407;407;406;354;408	ENSP00000375616:P407S;ENSP00000270452:P407S;ENSP00000408995:P406S;ENSP00000375614:P354S;ENSP00000375613:P408S	ENSP00000270452:P407S	P	+	1	0	LILRB4	59871154	0.007000	0.16637	0.721000	0.30653	0.421000	0.31385	0.250000	0.18235	1.166000	0.42689	0.407000	0.27541	CCC		0.647	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			6	328	0	0	0	1	0	6	328				
IRAK3	11213	broad.mit.edu	37	12	66641598	66641598	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:66641598G>A	ENST00000261233.4	+	12	1859	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	IRAK3_ENST00000457197.2_Missense_Mutation_p.E419K	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TATTCCAGTGGAAGATGATGA	0.428																																						ENST00000261233.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.(1438-1440)Gaa>Aaa		interleukin-1 receptor-associated kinase 3							126.0	117.0	120.0					12																	66641598		2203	4300	6503	SO:0001583	missense	0				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66641598G>A	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.1438G>A	12.37:g.66641598G>A	ENSP00000261233:p.Glu480Lys					IRAK3_ENST00000457197.2_Missense_Mutation_p.E419K	p.E480K	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	12	1859	+			480						Missense_Mutation	SNP	ENST00000261233.4	37	c.1438G>A	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955128	0.92726	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.73258	-0.69;-0.73	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.77458	0.4133	L	0.36672	1.1	0.40471	D	0.980346	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.994	T	0.75628	-0.3252	9	.	.	.	-27.7703	15.4984	0.75677	0.0:0.0:1.0:0.0	.	419;480	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	K	480;419	ENSP00000261233:E480K;ENSP00000409852:E419K	.	E	+	1	0	IRAK3	64927865	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.853000	0.62911	2.724000	0.93272	0.561000	0.74099	GAA		0.428	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			65	210	0	0	0	1	0	65	210				
PSG6	5675	broad.mit.edu	37	19	43411814	43411814	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:43411814G>A	ENST00000292125.2	-	4	943	c.899C>T	c.(898-900)aCg>aTg	p.T300M	PSG6_ENST00000402603.4_Intron|PSG6_ENST00000187910.2_Missense_Mutation_p.T300M	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	300	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TTCATTTCTCGTGACACTGGG	0.488																																						ENST00000187910.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(898-900)aCg>aTg		pregnancy specific beta-1-glycoprotein 6							191.0	184.0	187.0					19																	43411814		2201	4295	6496	SO:0001583	missense	5675							g.chr19:43411814G>A		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.899C>T	19.37:g.43411814G>A	ENSP00000292125:p.Thr300Met					PSG6_ENST00000292125.2_Missense_Mutation_p.T300M|PSG6_ENST00000402603.4_Intron	p.T300M	NM_001031850.3	NP_001027020.1					4	964	-		Prostate(69;0.00899)						O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	c.899C>T	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	8.993	0.978199	0.18812	.	.	ENSG00000170848	ENST00000187910;ENST00000292125	T;T	0.15603	2.41;2.41	1.42	-0.067	0.13762	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.30665	0.0772	H	0.95745	3.715	0.09310	N	0.999998	B;P	0.39520	0.331;0.676	B;B	0.40864	0.146;0.342	T	0.33523	-0.9865	9	0.72032	D	0.01	.	4.8586	0.13571	0.0:0.397:0.603:0.0	.	300;300	Q00889;Q00889-2	PSG6_HUMAN;.	M	300	ENSP00000187910:T300M;ENSP00000292125:T300M	ENSP00000187910:T300M	T	-	2	0	PSG6	48103654	0.000000	0.05858	0.347000	0.25668	0.098000	0.18820	-0.625000	0.05534	0.792000	0.33850	0.134000	0.15878	ACG		0.488	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		199	648	0	0	0	1	0	199	648				
SYT12	91683	broad.mit.edu	37	11	66807576	66807576	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:66807576C>T	ENST00000393946.2	+	7	1685	c.523C>T	c.(523-525)Cag>Tag	p.Q175*	SYT12_ENST00000527043.1_Nonsense_Mutation_p.Q175*|SYT12_ENST00000526281.1_3'UTR|SYT12_ENST00000525457.1_Nonsense_Mutation_p.Q175*			Q8IV01	SYT12_HUMAN	synaptotagmin XII	175	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						GGCGGTGATGCAGGGCAAGGA	0.632																																					Ovarian(65;2862 3307)	ENST00000393946.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(523-525)Cag>Tag		synaptotagmin XII							60.0	58.0	59.0					11																	66807576		2200	4295	6495	SO:0001587	stop_gained	91683					cell junction|integral to membrane|synaptic vesicle membrane		g.chr11:66807576C>T	AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"""Synaptotagmins"""	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.523C>T	11.37:g.66807576C>T	ENSP00000377520:p.Gln175*					SYT12_ENST00000525457.1_Nonsense_Mutation_p.Q175*|SYT12_ENST00000526281.1_3'UTR|SYT12_ENST00000527043.1_Nonsense_Mutation_p.Q175*	p.Q175*			Q8IV01	SYT12_HUMAN			7	1685	+			175			C2 1.			Nonsense_Mutation	SNP	ENST00000393946.2	37	c.523C>T	CCDS8154.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273932	0.80580	.	.	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	17.1708	0.86830	0.0:1.0:0.0:0.0	.	.	.	.	X	175	.	ENSP00000377520:Q175X	Q	+	1	0	SYT12	66564152	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	7.797000	0.85911	2.655000	0.90218	0.462000	0.41574	CAG		0.632	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	NM_177963		5	226	0	0	0	1	0	5	226				
LOXL2	4017	broad.mit.edu	37	8	23191082	23191082	+	Silent	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr8:23191082G>A	ENST00000389131.3	-	5	1167	c.798C>T	c.(796-798)acC>acT	p.T266T	RP11-177H13.2_ENST00000519692.1_RNA|LOXL2_ENST00000518472.1_5'Flank	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	266	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CCTCTGTGCCGGTGCAGTCCA	0.617																																						ENST00000389131.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(796-798)acC>acT		lysyl oxidase-like 2							75.0	62.0	66.0					8																	23191082		2203	4300	6503	SO:0001819	synonymous_variant	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23191082G>A	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.798C>T	8.37:g.23191082G>A							p.T266T	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	5	1167	-		Prostate(55;0.0453)|Breast(100;0.143)	266			SRCR 2.		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Silent	SNP	ENST00000389131.3	37	c.798C>T	CCDS34864.1																																																																																				0.617	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			4	174	0	0	0	1	0	4	174				
OXTR	5021	broad.mit.edu	37	3	8794835	8794835	+	Missense_Mutation	SNP	G	G	A	rs200966415		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:8794835G>A	ENST00000316793.3	-	4	1622	c.998C>T	c.(997-999)aCg>aTg	p.T333M	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	333					cell surface receptor signaling pathway (GO:0007166)|digestive tract development (GO:0048565)|eating behavior (GO:0042755)|ERK1 and ERK2 cascade (GO:0070371)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|heart development (GO:0007507)|lactation (GO:0007595)|maternal behavior (GO:0042711)|maternal process involved in parturition (GO:0060137)|memory (GO:0007613)|muscle contraction (GO:0006936)|negative regulation of gastric acid secretion (GO:0060455)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of penile erection (GO:0060406)|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 uterine smooth muscle contraction (GO:0070474)|response to amphetamine (GO:0001975)|response to anoxia (GO:0034059)|response to cocaine (GO:0042220)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|suckling behavior (GO:0001967)|telencephalon development (GO:0021537)	apical plasma membrane (GO:0016324)|cell-cell adherens junction (GO:0005913)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	oxytocin receptor activity (GO:0004990)|peptide hormone binding (GO:0017046)|vasopressin receptor activity (GO:0005000)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)|Oxytocin(DB00107)	GAGGTGGCCCGTGAACAGCAT	0.617													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19866	0.0		0.0	False		,,,				2504	0.0					ENST00000316793.3																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13						c.(997-999)aCg>aTg		oxytocin receptor	Carbetocin(DB01282)	G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	71.0	63.0	66.0		998	4.2	0.8	3		66	1,8599	1.2+/-3.3	0,1,4299	no	missense	OXTR	NM_000916.3	81	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	333/390	8794835	2,13004	2203	4300	6503	SO:0001583	missense	5021				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity	g.chr3:8794835G>A		CCDS2570.1	3p25	2012-08-08			ENSG00000180914	ENSG00000180914		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	8529	protein-coding gene	gene with protein product		167055				1313946	Standard	NM_000916		Approved		uc003brc.3	P30559	OTTHUMG00000090537	ENST00000316793.3:c.998C>T	3.37:g.8794835G>A	ENSP00000324270:p.Thr333Met					CAV3_ENST00000472766.1_Intron	p.T333M	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.15)	4	1622	-			333					Q15071	Missense_Mutation	SNP	ENST00000316793.3	37	c.998C>T	CCDS2570.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	23.0	4.366953	0.82463	2.27E-4	1.16E-4	ENSG00000180914	ENST00000316793	T	0.38560	1.13	5.13	4.23	0.50019	.	0.052718	0.85682	D	0.000000	T	0.55449	0.1921	M	0.63428	1.95	0.41902	D	0.990422	D	0.71674	0.998	P	0.57204	0.815	T	0.62158	-0.6913	10	0.87932	D	0	-32.9382	14.1848	0.65598	0.0:0.1509:0.8491:0.0	.	333	P30559	OXYR_HUMAN	M	333	ENSP00000324270:T333M	ENSP00000324270:T333M	T	-	2	0	OXTR	8769835	1.000000	0.71417	0.845000	0.33349	0.985000	0.73830	5.333000	0.65917	1.330000	0.45394	0.655000	0.94253	ACG		0.617	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207061.2			61	150	0	0	0	1	0	61	150				
NAF1	92345	broad.mit.edu	37	4	164050124	164050124	+	Silent	SNP	T	T	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:164050124T>G	ENST00000274054.2	-	8	1603	c.1410A>C	c.(1408-1410)ccA>ccC	p.P470P	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	470	Pro-rich.				pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				ggggagggggtgggggtaggg	0.522																																						ENST00000274054.2																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21						c.(1408-1410)ccA>ccC		nuclear assembly factor 1 ribonucleoprotein							10.0	10.0	10.0					4																	164050124		2188	4274	6462	SO:0001819	synonymous_variant	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164050124T>G		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1410A>C	4.37:g.164050124T>G						NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	p.P470P	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN			8	1603	-	all_hematologic(180;0.166)	Prostate(90;0.109)	470			Pro-rich.		D3DP28|E9PAZ2	Silent	SNP	ENST00000274054.2	37	c.1410A>C	CCDS3803.1																																																																																				0.522	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		7	45	0	0	0	1	0	7	45				
MED14	9282	broad.mit.edu	37	X	40526067	40526067	+	Missense_Mutation	SNP	A	A	C			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:40526067A>C	ENST00000324817.1	-	24	3288	c.3170T>G	c.(3169-3171)tTg>tGg	p.L1057W		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1057	Pro-rich.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGGGCTCTCAAAGCCCCACT	0.493																																						ENST00000324817.1																			0				NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(3169-3171)tTg>tGg		mediator complex subunit 14							29.0	26.0	27.0					X																	40526067		2201	4290	6491	SO:0001583	missense	9282				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:40526067A>C	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.3170T>G	X.37:g.40526067A>C	ENSP00000323720:p.Leu1057Trp						p.L1057W	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN			24	3288	-			1057			Pro-rich.		Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	c.3170T>G	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.337558	0.81911	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000001	T	0.75155	0.3811	L	0.53249	1.67	0.58432	D	0.999991	D	0.76494	0.999	D	0.77557	0.99	T	0.77587	-0.2532	9	0.72032	D	0.01	.	14.8838	0.70553	1.0:0.0:0.0:0.0	.	1057	O60244	MED14_HUMAN	W	1057	.	ENSP00000323720:L1057W	L	-	2	0	MED14	40411011	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.721000	0.91446	1.896000	0.54893	0.402000	0.26972	TTG		0.493	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		30	66	0	0	0	1	0	30	66				
MAML3	55534	broad.mit.edu	37	4	140811087	140811087	+	Silent	SNP	C	C	T	rs544518608|rs58287721	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:140811087C>T	ENST00000509479.2	-	2	2359	c.1503G>A	c.(1501-1503)caG>caA	p.Q501Q	MAML3_ENST00000398940.1_Intron|MAML3_ENST00000327122.5_Silent_p.Q345Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.532																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1501-1503)caG>caA		mastermind-like 3 (Drosophila)							18.0	26.0	24.0					4																	140811087		2144	4285	6429	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811087C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1503G>A	4.37:g.140811087C>T						MAML3_ENST00000327122.5_Silent_p.Q345Q|MAML3_ENST00000398940.1_Intron	p.Q501Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2359	-	all_hematologic(180;0.162)		501			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1503G>A	CCDS54805.1																																																																																				0.532	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			27	144	0	0	0	1	0	27	144				
PAG1	55824	broad.mit.edu	37	8	81888976	81888976	+	Missense_Mutation	SNP	T	T	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr8:81888976T>G	ENST00000220597.4	-	9	1812	c.1102A>C	c.(1102-1104)Act>Cct	p.T368P	PAG1_ENST00000523463.1_5'Flank	NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1	368					epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			CTGTTTGGAGTTTTTTCGAAG	0.512																																						ENST00000220597.4																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11						c.(1102-1104)Act>Cct		phosphoprotein associated with glycosphingolipid microdomains 1							89.0	88.0	89.0					8																	81888976		2203	4300	6503	SO:0001583	missense	55824				epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity	g.chr8:81888976T>G	AF240634	CCDS6227.1	8q21.13	2014-04-30	2014-04-30						30043	protein-coding gene	gene with protein product	"""Csk-binding protein"", ""transmembrane adaptor protein PAG"""	605767	"""phosphoprotein associated with glycosphingolipid microdomains 1"""			10790433	Standard	XM_006716461		Approved	PAG, CBP	uc003ybz.3	Q9NWQ8		ENST00000220597.4:c.1102A>C	8.37:g.81888976T>G	ENSP00000220597:p.Thr368Pro						p.T368P	NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)		9	1812	-	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		368					A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	Missense_Mutation	SNP	ENST00000220597.4	37	c.1102A>C	CCDS6227.1	.	.	.	.	.	.	.	.	.	.	T	3.651	-0.071468	0.07228	.	.	ENSG00000076641	ENST00000220597	.	.	.	5.05	-2.76	0.05896	.	0.702006	0.14361	N	0.324452	T	0.34687	0.0906	L	0.51422	1.61	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.26815	-1.0092	9	0.45353	T	0.12	-1.9998	6.671	0.23068	0.0:0.1378:0.3656:0.4965	.	368	Q9NWQ8	PAG1_HUMAN	P	368	.	ENSP00000220597:T368P	T	-	1	0	PAG1	82051531	0.005000	0.15991	0.027000	0.17364	0.026000	0.11368	0.003000	0.13083	-0.242000	0.09667	-1.106000	0.02097	ACT		0.512	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379352.3	NM_018440		30	266	0	0	0	1	0	30	266				
NAA11	84779	broad.mit.edu	37	4	80246531	80246531	+	Silent	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:80246531G>A	ENST00000286794.4	-	1	673	c.501C>T	c.(499-501)ggC>ggT	p.G167G	NAA11_ENST00000513733.1_5'UTR	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	167					N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						CCACATACCCGCCCTTCTTCA	0.532																																						ENST00000286794.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						c.(499-501)ggC>ggT		N(alpha)-acetyltransferase 11, NatA catalytic subunit							56.0	57.0	57.0					4																	80246531		1986	4167	6153	SO:0001819	synonymous_variant	84779					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	g.chr4:80246531G>A		CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	28125	protein-coding gene	gene with protein product			"""ARD1 homolog B (S. cerevisiae)"""	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.501C>T	4.37:g.80246531G>A						NAA11_ENST00000513733.1_5'UTR	p.G167G	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN			1	673	-			167					Q66K19|Q6P479	Silent	SNP	ENST00000286794.4	37	c.501C>T	CCDS47084.1																																																																																				0.532	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362922.1			42	127	0	0	0	1	0	42	127				
POTEE	445582	broad.mit.edu	37	2	131976091	131976091	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:131976091G>A	ENST00000356920.5	+	1	210	c.116G>A	c.(115-117)gGc>gAc	p.G39D	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.G39D	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	39					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											AGGGAGAGCGGCAAGAGCAAC	0.582																																						ENST00000356920.5																			0											c.(115-117)gGc>gAc		POTE ankyrin domain family, member E							138.0	160.0	152.0					2																	131976091		2189	4298	6487	SO:0001583	missense	445582						ATP binding	g.chr2:131976091G>A	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.116G>A	2.37:g.131976091G>A	ENSP00000439189:p.Gly39Asp					PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.G39D|PLEKHB2_ENST00000303908.3_Intron	p.G39D	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			1	210	+			39					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.116G>A	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	9.831	1.188519	0.21954	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	D;T	0.81908	-1.55;1.01	0.1	0.1	0.14510	.	.	.	.	.	T	0.81795	0.4898	L	0.27053	0.805	0.09310	N	1	D	0.64830	0.994	D	0.65010	0.931	T	0.70055	-0.4977	8	0.87932	D	0	.	.	.	.	.	39	Q6S8J3	POTEE_HUMAN	D	39	ENSP00000439189:G39D;ENSP00000443049:G39D	ENSP00000439189:G39D	G	+	2	0	AC131180.1	131692561	0.005000	0.15991	0.041000	0.18516	0.042000	0.13812	0.240000	0.18042	0.170000	0.19704	0.173000	0.16961	GGC		0.582	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		7	911	0	0	0	1	0	7	911				
PAX1	5075	broad.mit.edu	37	20	21687445	21687445	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr20:21687445G>A	ENST00000398485.2	+	2	710	c.656G>A	c.(655-657)cGc>cAc	p.R219H	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Missense_Mutation_p.R195H	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	219	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R125L(1)|p.R219L(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						TCCATCAGCCGCATCCTGCGC	0.632																																						ENST00000398485.2																			2	Substitution - Missense(2)	p.R125L(1)|p.R219L(1)	lung(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						c.(655-657)cGc>cAc		paired box 1							53.0	58.0	56.0					20																	21687445		2203	4300	6503	SO:0001583	missense	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21687445G>A		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.656G>A	20.37:g.21687445G>A	ENSP00000381499:p.Arg219His					PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Missense_Mutation_p.R195H	p.R219H	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN			2	710	+			219			Paired.		B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	ENST00000398485.2	37	c.656G>A	CCDS13146.2	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891242	0.72524	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.99674	-6.36;-6.36	5.33	5.33	0.75918	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99701	0.9886	M	0.84219	2.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.97675	1.0169	10	0.87932	D	0	.	18.6396	0.91390	0.0:0.0:1.0:0.0	.	195;125;219	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	H	219;195	ENSP00000381499:R219H;ENSP00000410355:R195H	ENSP00000381499:R219H	R	+	2	0	PAX1	21635445	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	9.602000	0.98312	2.492000	0.84095	0.563000	0.77884	CGC		0.632	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			6	548	0	0	0	1	0	6	548				
C7orf57	136288	broad.mit.edu	37	7	48080979	48080979	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:48080979C>T	ENST00000348904.3	+	3	316	c.104C>T	c.(103-105)gCc>gTc	p.A35V	C7orf57_ENST00000539619.1_Missense_Mutation_p.A35V|C7orf57_ENST00000430738.1_Missense_Mutation_p.A80V|C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000420324.1_Missense_Mutation_p.A80V	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	35										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						GCCGTGGATGCCCCACCAGCG	0.567																																						ENST00000348904.3																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(103-105)gCc>gTc		chromosome 7 open reading frame 57							53.0	57.0	56.0					7																	48080979		1934	4147	6081	SO:0001583	missense	136288							g.chr7:48080979C>T	BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.104C>T	7.37:g.48080979C>T	ENSP00000335500:p.Ala35Val					C7orf57_ENST00000539619.1_Missense_Mutation_p.A35V|C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000430738.1_Missense_Mutation_p.A80V|C7orf57_ENST00000420324.1_Missense_Mutation_p.A80V	p.A35V	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN			3	316	+			35					C9JBJ8	Missense_Mutation	SNP	ENST00000348904.3	37	c.104C>T	CCDS47583.1	.	.	.	.	.	.	.	.	.	.	C	0.418	-0.909812	0.02434	.	.	ENSG00000164746	ENST00000420324;ENST00000430738;ENST00000348904;ENST00000539619	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.69	-1.12	0.09808	.	0.758231	0.12566	N	0.457767	T	0.29491	0.0735	N	0.11698	0.16	0.09310	N	1	B	0.14438	0.01	B	0.16722	0.016	T	0.22765	-1.0207	10	0.18710	T	0.47	-42.8651	9.8678	0.41154	0.0:0.4479:0.0:0.5521	.	35	Q8NEG2	CG057_HUMAN	V	80;80;35;35	ENSP00000394648:A80V;ENSP00000410944:A80V;ENSP00000335500:A35V;ENSP00000442474:A35V	ENSP00000335500:A35V	A	+	2	0	C7orf57	48047504	0.000000	0.05858	0.005000	0.12908	0.037000	0.13140	-0.525000	0.06214	-0.112000	0.11979	-0.251000	0.11542	GCC		0.567	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1	NM_001100159		4	206	0	0	0	1	0	4	206				
HPN	3249	broad.mit.edu	37	19	35556925	35556925	+	Missense_Mutation	SNP	C	C	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:35556925C>G	ENST00000262626.2	+	12	2029	c.1204C>G	c.(1204-1206)Cag>Gag	p.Q402E	HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Missense_Mutation_p.Q244E|HPN_ENST00000392226.1_Missense_Mutation_p.Q402E	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	402	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GTGGATCTTCCAGGCCATAAA	0.562																																						ENST00000262626.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19						c.(1204-1206)Cag>Gag		hepsin	Coagulation factor VIIa(DB00036)						96.0	104.0	101.0					19																	35556925		2203	4300	6503	SO:0001583	missense	3249				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr19:35556925C>G		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"""Serine peptidases / Transmembrane"""	5155	protein-coding gene	gene with protein product	"""transmembrane protease, serine 1"""	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.1204C>G	19.37:g.35556925C>G	ENSP00000262626:p.Gln402Glu					HPN_ENST00000392226.1_Missense_Mutation_p.Q402E|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Missense_Mutation_p.Q244E	p.Q402E	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		12	2029	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		402			Peptidase S1.		B2RDS4	Missense_Mutation	SNP	ENST00000262626.2	37	c.1204C>G	CCDS32993.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570793	0.28003	.	.	ENSG00000105707	ENST00000262626;ENST00000392226;ENST00000541345	D;D	0.87887	-2.31;-2.31	4.86	3.81	0.43845	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.194075	0.40908	D	0.000999	T	0.62575	0.2439	N	0.01656	-0.775	0.80722	D	1	B;B;B	0.23249	0.024;0.067;0.082	B;B;B	0.13407	0.003;0.006;0.009	T	0.62558	-0.6829	10	0.02654	T	1	.	10.3731	0.44066	0.3539:0.6461:0.0:0.0	.	374;402;402	B7Z1L4;B2ZDQ2;P05981	.;.;HEPS_HUMAN	E	402;402;374	ENSP00000262626:Q402E;ENSP00000376060:Q402E	ENSP00000262626:Q402E	Q	+	1	0	HPN	40248765	0.966000	0.33281	1.000000	0.80357	0.970000	0.65996	1.161000	0.31773	1.252000	0.44001	0.455000	0.32223	CAG		0.562	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1	NM_002151		11	613	0	0	0	1	0	11	613				
ARHGEF6	9459	broad.mit.edu	37	X	135789073	135789073	+	Missense_Mutation	SNP	T	T	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:135789073T>A	ENST00000250617.6	-	9	2245	c.1040A>T	c.(1039-1041)cAg>cTg	p.Q347L	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.Q193L|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.Q220L|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.Q193L	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	347	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TTACCTGTGCTGAGTGAGCAC	0.408																																						ENST00000250617.6																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38						c.(1039-1041)cAg>cTg		Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6							184.0	166.0	172.0					X																	135789073		2203	4300	6503	SO:0001583	missense	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135789073T>A	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.1040A>T	X.37:g.135789073T>A	ENSP00000250617:p.Gln347Leu					ARHGEF6_ENST00000370620.1_Missense_Mutation_p.Q193L|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.Q193L|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.Q220L	p.Q347L	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN			9	2245	-	Acute lymphoblastic leukemia(192;0.000127)		347			DH.		A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	c.1040A>T	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	T	17.07	3.295049	0.60086	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.15	5.15	0.70609	Dbl homology (DH) domain (5);	0.210007	0.49916	D	0.000125	T	0.70718	0.3256	M	0.81802	2.56	0.42510	D	0.992962	P;P	0.43352	0.629;0.804	B;P	0.47346	0.326;0.544	T	0.76280	-0.3017	10	0.72032	D	0.01	.	13.1422	0.59440	0.0:0.0:0.0:1.0	.	220;347	B7Z3C7;Q15052	.;ARHG6_HUMAN	L	347;193;193;193;220	ENSP00000250617:Q347L;ENSP00000359654:Q193L;ENSP00000359656:Q193L;ENSP00000439483:Q220L	ENSP00000250617:Q347L	Q	-	2	0	ARHGEF6	135616739	1.000000	0.71417	0.995000	0.50966	0.557000	0.35523	7.138000	0.77305	1.813000	0.52934	0.486000	0.48141	CAG		0.408	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		7	627	0	0	0	1	0	7	627				
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:71346978T>C	ENST00000304887.5	+	3	707	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000413702.1_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522																																						ENST00000413702.1																			3	Substitution - Missense(3)	p.S173P(3)	lung(2)|kidney(1)	central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(517-519)Tct>Cct		mucin 7, secreted							341.0	284.0	303.0					4																	71346978		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346978T>C	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.517T>C	4.37:g.71346978T>C	ENSP00000302021:p.Ser173Pro					MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P	p.S173P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	805	+			173			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.517T>C	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	T	8.294	0.818323	0.16607	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.52754	0.65;0.65;0.65	2.59	-1.83	0.07833	.	.	.	.	.	T	0.22360	0.0539	N	0.12182	0.205	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.19451	-1.0305	8	.	.	.	-1.8981	3.858	0.08984	0.0:0.2646:0.3931:0.3423	.	173	Q8TAX7	MUC7_HUMAN	P	173	ENSP00000407422:S173P;ENSP00000400585:S173P;ENSP00000302021:S173P	.	S	+	1	0	MUC7	71381567	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.097000	0.01348	-0.350000	0.08262	-0.605000	0.04089	TCT		0.522	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		5	435	0	0	0	1	0	5	435				
HSPA12A	259217	broad.mit.edu	37	10	118434408	118434408	+	Missense_Mutation	SNP	C	C	T	rs41284376	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr10:118434408C>T	ENST00000369209.3	-	12	2016	c.1912G>A	c.(1912-1914)Gcc>Acc	p.A638T	RP11-498B4.5_ENST00000433600.1_RNA	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	638						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TCCCTCCGGGCGGGCACCGCA	0.577													C|||	17	0.00339457	0.0	0.0014	5008	,	,		17021	0.001		0.0119	False		,,,				2504	0.0031					ENST00000369209.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1912-1914)Gcc>Acc		heat shock 70kDa protein 12A		C	THR/ALA	2,3944		0,2,1971	73.0	76.0	75.0		1912	-1.0	0.3	10	dbSNP_127	75	35,8257		1,33,4112	yes	missense	HSPA12A	NM_025015.2	58	1,35,6083	TT,TC,CC		0.4221,0.0507,0.3023	benign	638/676	118434408	37,12201	1973	4146	6119	SO:0001583	missense	259217						ATP binding	g.chr10:118434408C>T	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1912G>A	10.37:g.118434408C>T	ENSP00000358211:p.Ala638Thr						p.A638T	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN		all cancers(201;0.0158)	12	2016	-			638						Missense_Mutation	SNP	ENST00000369209.3	37	c.1912G>A	CCDS41569.1	11	0.005036630036630037	0	0.0	2	0.0055248618784530384	0	0.0	9	0.011873350923482849	C	0.572	-0.840640	0.02692	5.07E-4	0.004221	ENSG00000165868	ENST00000369209	T	0.41758	0.99	6.02	-1.03	0.10102	.	0.615275	0.18234	N	0.147479	T	0.11367	0.0277	N	0.08118	0	0.19945	N	0.99994	B	0.02656	0.0	B	0.06405	0.002	T	0.23084	-1.0198	10	0.11485	T	0.65	.	5.9177	0.19063	0.0:0.3231:0.366:0.311	rs41284376	638	O43301	HS12A_HUMAN	T	638	ENSP00000358211:A638T	ENSP00000358211:A638T	A	-	1	0	HSPA12A	118424398	0.006000	0.16342	0.315000	0.25238	0.186000	0.23388	0.029000	0.13666	-0.068000	0.12953	0.655000	0.94253	GCC		0.577	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		62	236	0	0	0	1	0	62	236				
M1AP	130951	broad.mit.edu	37	2	74785998	74785998	+	Missense_Mutation	SNP	C	C	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:74785998C>G	ENST00000290536.5	-	11	1554	c.1438G>C	c.(1438-1440)Ggg>Cgg	p.G480R	M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000409585.1_Missense_Mutation_p.G476R|M1AP_ENST00000536235.1_Missense_Mutation_p.G476R|M1AP_ENST00000358434.2_Missense_Mutation_p.G129R	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	480					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											TGCAACTGCCCAGTCTGCAAA	0.542																																						ENST00000290536.5																			0											c.(1438-1440)Ggg>Cgg		meiosis 1 associated protein							54.0	54.0	54.0					2																	74785998		2203	4300	6503	SO:0001583	missense	130951							g.chr2:74785998C>G		CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"""meiosis 1 arresting protein"", ""spermatogenesis associated 37"""		"""chromosome 2 open reading frame 65"""	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.1438G>C	2.37:g.74785998C>G	ENSP00000290536:p.Gly480Arg					M1AP_ENST00000409585.1_Missense_Mutation_p.G476R|M1AP_ENST00000358434.2_Missense_Mutation_p.G129R|M1AP_ENST00000536235.1_Missense_Mutation_p.G476R|M1AP_ENST00000464686.1_5'UTR	p.G480R	NM_138804.3	NP_620159.2					11	1554	-								B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Missense_Mutation	SNP	ENST00000290536.5	37	c.1438G>C	CCDS33229.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246829	0.59103	.	.	ENSG00000159374	ENST00000290536;ENST00000409585;ENST00000536235;ENST00000358434	T;T;T	0.31769	1.48;1.48;1.48	5.44	3.63	0.41609	.	0.496010	0.20385	N	0.093379	T	0.44561	0.1299	L	0.60455	1.87	0.32055	N	0.596454	D;D;D;D	0.71674	0.97;0.998;0.983;0.983	P;D;P;P	0.66979	0.758;0.948;0.758;0.822	T	0.50898	-0.8773	10	0.38643	T	0.18	-5.5072	7.2232	0.25999	0.0:0.7389:0.1715:0.0895	.	476;129;480;232	E9PGG8;Q8TC57-3;Q8TC57;B3KX03	.;.;CB065_HUMAN;.	R	480;476;476;129	ENSP00000290536:G480R;ENSP00000386793:G476R;ENSP00000445662:G476R	ENSP00000290536:G480R	G	-	1	0	C2orf65	74639506	0.567000	0.26626	0.918000	0.36340	0.790000	0.44656	0.812000	0.27211	0.833000	0.34828	0.655000	0.94253	GGG		0.542	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1	NM_138804		4	156	0	0	0	1	0	4	156				
PRAMEF1	65121	broad.mit.edu	37	1	12854342	12854342	+	Missense_Mutation	SNP	T	T	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:12854342T>A	ENST00000332296.7	+	3	669	c.566T>A	c.(565-567)cTa>cAa	p.L189Q	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	189					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTCAATTATCTAACGCCGATT	0.408																																						ENST00000332296.7																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(565-567)cTa>cAa		PRAME family member 1							191.0	204.0	199.0					1																	12854342		2203	4298	6501	SO:0001583	missense	65121							g.chr1:12854342T>A	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.566T>A	1.37:g.12854342T>A	ENSP00000332134:p.Leu189Gln						p.L189Q	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	669	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	189					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.566T>A	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	9.962	1.223003	0.22457	.	.	ENSG00000116721	ENST00000332296	T	0.16073	2.37	1.74	-0.417	0.12347	.	2.422510	0.01980	N	0.044713	T	0.13543	0.0328	N	0.02539	-0.55	0.09310	N	1	D	0.65815	0.995	P	0.60949	0.881	T	0.10064	-1.0646	10	0.32370	T	0.25	.	2.8483	0.05550	0.0:0.4951:0.2994:0.2055	.	189	O95521	PRAM1_HUMAN	Q	189	ENSP00000332134:L189Q	ENSP00000332134:L189Q	L	+	2	0	PRAMEF1	12776929	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.504000	0.06375	-0.102000	0.12197	-0.427000	0.05922	CTA		0.408	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		11	2008	0	0	0	1	0	11	2008				
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796|rs79472512	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1				espin pseudogene																		CAGCAGCAGCCAGCTGAGCACC	0.718														1500	0.299521	0.1188	0.3444	5008	,	,		24180	0.4177		0.3101	False		,,,				2504	0.3793					ENST00000492551.1																			0																																																			0							g.chr1:17034125_17034126insAGCT	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034126_17034129dupAGCT								NR_026567.1						0	477_478	-									RNA	INS	ENST00000492551.1	37																																																																																						0.718	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			7	21						7	21	---	---	---	---
C1orf94	84970	broad.mit.edu	37	1	34666398	34666398	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:34666398delA	ENST00000488417.1	+	3	1155	c.1035delA	c.(1033-1035)ccafs	p.P345fs	C1orf94_ENST00000373374.3_Frame_Shift_Del_p.P155fs	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	345										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CCAAGGAGCCAAAAAAGGGTC	0.572																																						ENST00000488417.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32						c.(1033-1035)ccfs		chromosome 1 open reading frame 94							71.0	69.0	70.0					1																	34666398		2203	4300	6503	SO:0001589	frameshift_variant	84970						protein binding	g.chr1:34666398delA	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1035delA	1.37:g.34666398delA	ENSP00000435634:p.Pro345fs					C1orf94_ENST00000373374.3_Frame_Shift_Del_p.P155fs	p.P345fs	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN			3	1155	+		Myeloproliferative disorder(586;0.0393)	155					B3KVT1|D3DPR3|E9PJ76|Q96IC8	Frame_Shift_Del	DEL	ENST00000488417.1	37	c.1035delA	CCDS44108.1																																																																																				0.572	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		7	316						7	316	---	---	---	---
IPP	3652	broad.mit.edu	37	1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-	rs144663569		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		7	245						7	245	---	---	---	---
NRD1	4898	broad.mit.edu	37	1	52290962	52290962	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:52290962delA	ENST00000354831.7	-	8	1426	c.1237delT	c.(1237-1239)tggfs	p.W413fs	NRD1_ENST00000544028.1_Frame_Shift_Del_p.W213fs|NRD1_ENST00000539524.1_Frame_Shift_Del_p.W281fs|NRD1_ENST00000352171.7_Frame_Shift_Del_p.W345fs|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	344					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ATCTTACCCCAAAAAAATTTT	0.318																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(1237-1239)ggfs		nardilysin (N-arginine dibasic convertase)							53.0	55.0	54.0					1																	52290962		2203	4300	6503	SO:0001589	frameshift_variant	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52290962delA	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.1237delT	1.37:g.52290962delA	ENSP00000346890:p.Trp413fs					NRD1_ENST00000352171.7_Frame_Shift_Del_p.W345fs|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Frame_Shift_Del_p.W213fs|NRD1_ENST00000539524.1_Frame_Shift_Del_p.W281fs	p.W413fs	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			8	1426	-			344					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Frame_Shift_Del	DEL	ENST00000354831.7	37	c.1237delT	CCDS559.1																																																																																				0.318	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		7	723						7	723	---	---	---	---
KCND3	3752	broad.mit.edu	37	1	112524444	112524445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:112524444_112524445insG	ENST00000315987.2	-	2	1383_1384	c.904_905insC	c.(904-906)cgcfs	p.R302fs	KCND3_ENST00000369697.1_Frame_Shift_Ins_p.R302fs|KCND3_ENST00000302127.4_Frame_Shift_Ins_p.R302fs	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	302					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CTGGGAGTGGCGGGAAAACTTG	0.579																																						ENST00000369697.1																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49						c.(904-906)ccafs		potassium voltage-gated channel, Shal-related subfamily, member 3																																				SO:0001589	frameshift_variant	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112524444_112524445insG	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.905dupC	1.37:g.112524447_112524447dupG	ENSP00000319591:p.Arg302fs					KCND3_ENST00000302127.4_Frame_Shift_Ins_p.P302fs|KCND3_ENST00000315987.2_Frame_Shift_Ins_p.P302fs	p.P302fs			Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	1	973_974	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	302					O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Frame_Shift_Ins	INS	ENST00000315987.2	37	c.904_905insC	CCDS843.1																																																																																				0.579	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		11	349						11	349	---	---	---	---
NGF	4803	broad.mit.edu	37	1	115828721	115828722	+	Frame_Shift_Del	DEL	CA	CA	-	rs142696332		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:115828721_115828722delCA	ENST00000369512.2	-	3	863_864	c.695_696delTG	c.(694-696)gtgfs	p.V232fs	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	232					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TCCTGCTGAGCACACACACACA	0.579																																						ENST00000369512.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(694-696)gfs		nerve growth factor (beta polypeptide)	Clenbuterol(DB01407)																																			SO:0001589	frameshift_variant	4803				activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	g.chr1:115828721_115828722delCA		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.695_696delTG	1.37:g.115828731_115828732delCA	ENSP00000358525:p.Val232fs					RP4-663N10.1_ENST00000425449.1_RNA	p.V232fs	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	3	863_864	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	232					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Frame_Shift_Del	DEL	ENST00000369512.2	37	c.695_696delTG	CCDS882.1																																																																																				0.579	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506		7	369						7	369	---	---	---	---
LOC101927209	101927209	broad.mit.edu	37	1	142713977	142713977	+	lincRNA	DEL	T	T	-	rs140223576		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:142713977delT	ENST00000610091.1	-	0	1681																											ATCCATATACTAAAAAGGTTA	0.294																																						ENST00000369381.2																			0																																																			0							g.chr1:142713977delT																													1.37:g.142713977delT														0	628	-									RNA	DEL	ENST00000610091.1	37																																																																																						0.294	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			18	31						18	31	---	---	---	---
HFE2	148738	broad.mit.edu	37	1	145415369	145415371	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:145415369_145415371delGAG	ENST00000336751.5	+	3	426_428	c.188_190delGAG	c.(187-192)cgagga>cga	p.G69del	HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_5'UTR	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	69	Poly-Gly.			G -> GG (in Ref. 3; ABC40718). {ECO:0000305}.	axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGCACTTCGAGGAGGAGGAGG	0.626																																						ENST00000336751.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14						c.(187-192)cga>c		hemochromatosis type 2 (juvenile)			,,,	49,31,4178		2,0,45,10,11,2061					,,,	2.7	0.0			51	5,73,8160		0,0,5,23,27,4064	no	codingComplex,intron,intron,utr-5	HFE2	NM_213653.3,NM_213652.3,NM_202004.3,NM_145277.4	,,,	2,0,50,33,38,6125	A1A1,A1A2,A1R,A2A2,A2R,RR		0.9468,1.8788,1.2644	,,,	,,,		54,104,12338				SO:0001651	inframe_deletion	148738				axon guidance	anchored to membrane		g.chr1:145415369_145415371delGAG	AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"""repulsive guidance molecule c"""	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.188_190delGAG	1.37:g.145415378_145415380delGAG	ENSP00000337014:p.Gly69del					HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_5'UTR	p.RG63del	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN			3	426_428	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		63					B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	In_Frame_Del	DEL	ENST00000336751.5	37	c.188_190delGAG	CCDS910.1																																																																																				0.626	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	NM_145277		7	288						7	288	---	---	---	---
BCL9	607	broad.mit.edu	37	1	147091501	147091501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:147091501delC	ENST00000234739.3	+	8	2280	c.1540delC	c.(1540-1542)cccfs	p.P517fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	517	Poly-Pro.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTCCGAGGACCCCCCCCTCC	0.582			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(1540-1542)ccfs		B-cell CLL/lymphoma 9				35,42,4183		0,0,35,4,34,2057	60.0	70.0	66.0			3.6	1.0	1		67	38,97,8115		0,0,38,24,49,4014	no	codingComplex	BCL9	NM_004326.2		0,0,73,28,83,6071	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6364,1.8075,1.6946			147091501	73,139,12298	2203	4300	6503	SO:0001589	frameshift_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147091501delC	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1540delC	1.37:g.147091501delC	ENSP00000234739:p.Pro517fs						p.P517fs	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	2280	+	all_hematologic(923;0.115)		517			Poly-Pro.|Pro-rich.		Q5T489	Frame_Shift_Del	DEL	ENST00000234739.3	37	c.1540delC	CCDS30833.1																																																																																				0.582	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		11	585						11	585	---	---	---	---
ISG20L2	81875	broad.mit.edu	37	1	156694023	156694023	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:156694023delG	ENST00000313146.6	-	2	1647	c.865delC	c.(865-867)ctcfs	p.L289fs	ISG20L2_ENST00000368219.1_Frame_Shift_Del_p.L289fs|ISG20L2_ENST00000472824.2_5'UTR	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		7	420						7	420	---	---	---	---
POU2F1	5451	broad.mit.edu	37	1	167385016	167385018	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:167385016_167385018delCCA	ENST00000541643.3	+	17	2363_2365	c.2201_2203delCCA	c.(2200-2205)tccacc>tcc	p.T738del	POU2F1_ENST00000367866.2_In_Frame_Del_p.T761del|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_In_Frame_Del_p.T698del|POU2F1_ENST00000367862.5_In_Frame_Del_p.T750del|POU2F1_ENST00000420254.3_Intron			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	738					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GGGGCTGCGTCCACCACCACCAC	0.601																																						ENST00000367862.5																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(2236-2241)tcc>t		POU class 2 homeobox 1																																				SO:0001651	inframe_deletion	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167385016_167385018delCCA	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.2201_2203delCCA	1.37:g.167385025_167385027delCCA	ENSP00000441285:p.Thr738del					POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000429375.2_In_Frame_Del_p.ST694del|POU2F1_ENST00000541643.3_In_Frame_Del_p.ST734del|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_In_Frame_Del_p.ST757del	p.ST746del	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN			16	2472_2474	+			734					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	In_Frame_Del	DEL	ENST00000541643.3	37	c.2237_2239delCCA																																																																																					0.601	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		10	764						10	764	---	---	---	---
PM20D1	148811	broad.mit.edu	37	1	205819140	205819140	+	Missense_Mutation	SNP	T	T	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:205819140T>G	ENST00000367136.4	-	1	105	c.61A>C	c.(61-63)Acc>Ccc	p.T21P	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	21					negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CTGGAGACGGTAGGGAAAACT	0.602																																						ENST00000367136.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28						c.(61-63)Acc>Ccc		peptidase M20 domain containing 1							82.0	77.0	79.0					1																	205819140		2203	4300	6503	SO:0001583	missense	148811					extracellular region	metal ion binding|peptidase activity	g.chr1:205819140T>G		CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.61A>C	1.37:g.205819140T>G	ENSP00000356104:p.Thr21Pro					PM20D1_ENST00000460624.1_5'UTR	p.T21P	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		1	105	-	Breast(84;0.201)		21					Q6P4E3|Q96DM4	Missense_Mutation	SNP	ENST00000367136.4	37	c.61A>C	CCDS1460.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.018274	0.35606	.	.	ENSG00000162877	ENST00000367136	T	0.07327	3.2	5.44	0.353	0.16058	.	0.566255	0.20291	N	0.095250	T	0.08714	0.0216	L	0.59436	1.845	0.09310	N	1	P	0.49961	0.93	P	0.44860	0.462	T	0.20874	-1.0262	10	0.36615	T	0.2	.	3.7543	0.08579	0.1477:0.2187:0.0:0.6336	.	21	Q6GTS8	P20D1_HUMAN	P	21	ENSP00000356104:T21P	ENSP00000356104:T21P	T	-	1	0	PM20D1	204085763	0.961000	0.32948	0.001000	0.08648	0.039000	0.13416	0.604000	0.24164	-0.105000	0.12132	0.533000	0.62120	ACC		0.602	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087736.1	NM_152491		28	245	0	0	0	1	0	28	245				
PTPN14	5784	broad.mit.edu	37	1	214557049	214557051	+	In_Frame_Del	DEL	CCT	CCT	-	rs143136196|rs376331360|rs189081489|rs539310988	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:214557049_214557051delCCT	ENST00000366956.5	-	13	2341_2343	c.2147_2149delAGG	c.(2146-2151)gaggct>gct	p.E716del	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	716	Poly-Glu.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.E716delE(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GATTCTGGAGCCTCCTCCTCCTC	0.626																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			1	Deletion - In frame(1)	p.E716delE(1)	liver(1)	NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2146-2151)gct>g		protein tyrosine phosphatase, non-receptor type 14																																				SO:0001651	inframe_deletion	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557049_214557051delCCT	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2147_2149delAGG	1.37:g.214557058_214557060delCCT	ENSP00000355923:p.Glu716del					PTPN14_ENST00000543945.1_3'UTR	p.EA716del	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2341_2343	-			716			Poly-Glu.		Q5VSI0	In_Frame_Del	DEL	ENST00000366956.5	37	c.2147_2149delAGG	CCDS1514.1																																																																																				0.626	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		12	244						12	244	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)aagdel	p.K1310del	OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1310	Poly-Lys.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCAGTGCCcttcttcttcttc	0.576																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(3928-3930)del		otoferlin			,,,	10,9,4247		0,0,10,0,9,2114					,,,	4.9	1.0			146	5,24,8225		0,0,5,0,24,4098	no	codingComplex,codingComplex,codingComplex,codingComplex	OTOF	NM_194323.2,NM_194322.2,NM_194248.2,NM_004802.3	,,,	0,0,15,0,33,6212	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3513,0.4454,0.3834	,,,	,,,		15,33,12472				SO:0001651	inframe_deletion	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26693554_26693556delCTT	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3928_3930delAAG	2.37:g.26693563_26693565delCTT	ENSP00000272371:p.Lys1310del					OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del	p.K1310del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			32	4054_4056	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1310			Poly-Lys.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	In_Frame_Del	DEL	ENST00000272371.2	37	c.3928_3930delAAG	CCDS1725.1																																																																																				0.576	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			11	306						11	306	---	---	---	---
RMDN2	151393	broad.mit.edu	37	2	38178783	38178783	+	Intron	DEL	T	T	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:38178783delT	ENST00000406384.1	+	2	646				RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000234195.3_Frame_Shift_Del_p.I142fs|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000402091.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000407257.1_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_ENST00000354545.2_Intron|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000234195.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000402091.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA	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		7	316						7	316	---	---	---	---
DHX57	90957	broad.mit.edu	37	2	39095411	39095413	+	In_Frame_Del	DEL	CCA	CCA	-	rs199521315|rs372484063|rs199910361	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:39095411_39095413delCCA	ENST00000295373.6	-	2	261_263	c.135_137delTGG	c.(133-138)ggtgga>gga	p.45_46GG>G	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	45	Gly-rich.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				Gccgccacctccaccaccaccac	0.532														22	0.00439297	0.0159	0.0014	5008	,	,		13864	0.0		0.0	False		,,,				2504	0.0				Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(133-138)gga>gg		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57																																				SO:0001651	inframe_deletion	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39095411_39095413delCCA	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.135_137delTGG	2.37:g.39095420_39095422delCCA	ENSP00000295373:p.Gly49del						p.GG47del	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			2	261_263	-		all_hematologic(82;0.248)	47			Gly-rich.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	In_Frame_Del	DEL	ENST00000295373.6	37	c.135_137delTGG	CCDS1800.1																																																																																				0.532	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		7	262						7	262	---	---	---	---
SMYD5	10322	broad.mit.edu	37	2	73453009	73453011	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:73453009_73453011delGAG	ENST00000389501.4	+	13	1237_1239	c.1192_1194delGAG	c.(1192-1194)gagdel	p.E403del	PRADC1_ENST00000480093.1_5'Flank	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	403	Glu-rich.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						ggaagaggaagaggaggaggagg	0.562																																						ENST00000389501.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(1192-1194)del		SMYD family member 5																																				SO:0001651	inframe_deletion	10322						metal ion binding	g.chr2:73453009_73453011delGAG	U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"""Zinc fingers, MYND-type"""	16258	protein-coding gene	gene with protein product			"""retinoic acid induced 15"""	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.1192_1194delGAG	2.37:g.73453018_73453020delGAG	ENSP00000374152:p.Glu403del						p.E403del	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN			13	1237_1239	+			403			Glu-rich.		D6W5H3|Q13558	In_Frame_Del	DEL	ENST00000389501.4	37	c.1192_1194delGAG	CCDS33221.2																																																																																				0.562	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	NM_006062		8	329						8	329	---	---	---	---
IGKV1D-8	28904	broad.mit.edu	37	2	90259860	90259861	+	RNA	INS	-	-	C			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:90259860_90259861insC	ENST00000471857.1	+	0	236									immunoglobulin kappa variable 1D-8																		AATTTACTCAGCCAATGTGCTC	0.48																																						ENST00000471857.1																			0																																																			0							g.chr2:90259860_90259861insC	Z00008		2p11.2	2012-02-08			ENSG00000239819	ENSG00000239819		"""Immunoglobulins / IGK locus"""	5759	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151570		2.37:g.90259862_90259862dupC														0	236	+									RNA	INS	ENST00000471857.1	37																																																																																						0.480	IGKV1D-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323145.2	NG_000833		12	593						12	593	---	---	---	---
SULT1C3	442038	broad.mit.edu	37	2	108863685	108863685	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:108863685delA	ENST00000329106.2	+	1	35	c.35delA	c.(34-36)gaafs	p.E12fs	SULT1C3_ENST00000376700.1_Frame_Shift_Del_p.E12fs	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	12					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						CCCACGATGGAAAAAAAGCCA	0.353																																						ENST00000329106.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						c.(34-36)gafs		sulfotransferase family, cytosolic, 1C, member 3							90.0	96.0	94.0					2																	108863685		2203	4300	6503	SO:0001589	frameshift_variant	442038					cytoplasm	alcohol sulfotransferase activity	g.chr2:108863685delA	BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"""Sulfotransferases, cytosolic"""	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.35delA	2.37:g.108863685delA	ENSP00000333310:p.Glu12fs					SULT1C3_ENST00000376700.1_Frame_Shift_Del_p.E12fs	p.E12fs	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN			1	35	+			12					Q6IMI5	Frame_Shift_Del	DEL	ENST00000329106.2	37	c.35delA	CCDS33267.1																																																																																				0.353	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330255.1	NM_001008743		9	439						9	439	---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171240259	171240259	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:171240259delC	ENST00000408978.4	+	12	1368	c.1225delC	c.(1225-1227)cccfs	p.P410fs	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Frame_Shift_Del_p.P419fs|MYO3B_ENST00000409044.3_Frame_Shift_Del_p.P410fs	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	410	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CGCCTCCAATCCCCCCCACAT	0.463																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(1252-1254)ccfs		myosin IIIB							123.0	115.0	118.0					2																	171240259		1925	4116	6041	SO:0001589	frameshift_variant	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171240259delC		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1225delC	2.37:g.171240259delC	ENSP00000386213:p.Pro410fs					MYO3B_ENST00000409044.3_Frame_Shift_Del_p.P410fs|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Frame_Shift_Del_p.P410fs	p.P419fs			Q8WXR4	MYO3B_HUMAN			12	1252	+			410			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Frame_Shift_Del	DEL	ENST00000408978.4	37	c.1252delC	CCDS42773.1																																																																																				0.463	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			7	435						7	435	---	---	---	---
CIR1	9541	broad.mit.edu	37	2	175213712	175213713	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:175213712_175213713insT	ENST00000342016.3	-	10	957_958	c.865_866insA	c.(865-867)atafs	p.I289fs	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	289	Lys/Ser-rich.				mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						cttcctttgtatttttttttct	0.381																																						ENST00000342016.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						c.(865-867)acafs		corepressor interacting with RBPJ, 1																																				SO:0001589	frameshift_variant	9541				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:175213712_175213713insT	AF098297	CCDS2256.1	2q31.1	2009-07-14			ENSG00000138433	ENSG00000138433			24217	protein-coding gene	gene with protein product	"""recepin"", ""CBF1 interacting corepressor"""	605228				15652350, 11222720, 9874765	Standard	NM_004882		Approved	CIR	uc002uim.3	Q86X95	OTTHUMG00000132338	ENST00000342016.3:c.866dupA	2.37:g.175213721_175213721dupT	ENSP00000339723:p.Ile289fs					CIR1_ENST00000362053.5_3'UTR	p.T289fs	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN			10	957_958	-			289			Lys/Ser-rich.		A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Frame_Shift_Ins	INS	ENST00000342016.3	37	c.865_866insA	CCDS2256.1																																																																																				0.381	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255460.1	NM_004882		9	255						9	255	---	---	---	---
CCDC141	285025	broad.mit.edu	37	2	179730541	179730541	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:179730541delG	ENST00000420890.2	-	17	2794	c.2677delC	c.(2677-2679)ctgfs	p.L893fs	CCDC141_ENST00000295723.5_Frame_Shift_Del_p.L318fs	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	893										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTACGGGACAGGGTCCGTCCA	0.532																																						ENST00000420890.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(2677-2679)tgfs		coiled-coil domain containing 141							352.0	315.0	328.0					2																	179730541		2203	4300	6503	SO:0001589	frameshift_variant	285025						protein binding	g.chr2:179730541delG	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2677delC	2.37:g.179730541delG	ENSP00000395995:p.Leu893fs					CCDC141_ENST00000295723.5_Frame_Shift_Del_p.L318fs	p.L893fs	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		17	2794	-			318					H7C0P1|J3KNW6|Q8N8H3	Frame_Shift_Del	DEL	ENST00000420890.2	37	c.2677delC																																																																																					0.532	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		7	1161						7	1161	---	---	---	---
CACNA1D	776	broad.mit.edu	37	3	53529193	53529195	+	Start_Codon_Del	DEL	GAT	GAT	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:53529193_53529195delGAT	ENST00000350061.5	+	0	511_513				CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000288139.4_Start_Codon_Del	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	aatgttcgtGgatgatgatgatg	0.581																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90								calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)																																			SO:0001582	initiator_codon_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53529193_53529195delGAT	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278		3.37:g.53529202_53529204delGAT						CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000350061.5_Start_Codon_Del		NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	0	118_120	+								B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Translation_Start_Site	DEL	ENST00000350061.5	37		CCDS46848.1																																																																																				0.581	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		7	388						7	388	---	---	---	---
MAGI1	9223	broad.mit.edu	37	3	65372850	65372851	+	Frame_Shift_Del	DEL	TC	TC	-	rs139764373		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:65372850_65372851delTC	ENST00000330909.8	-	15	2466_2467	c.2467_2468delGA	c.(2467-2469)gaafs	p.E823fs	MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs|MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000402939.2_Intron	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	823	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GGAATTGATTTCTCTCTCTCTC	0.401																																						ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(2467-2469)afs		membrane associated guanylate kinase, WW and PDZ domain containing 1																																				SO:0001589	frameshift_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65372850_65372851delTC	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000330909.8:c.2467_2468delGA	3.37:g.65372860_65372861delTC	ENSP00000331157:p.Glu823fs					MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs	p.E823fs	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	15	2466_2467	-		Lung NSC(201;0.0016)	823			PDZ 4.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Frame_Shift_Del	DEL	ENST00000330909.8	37	c.2467_2468delGA	CCDS33781.1																																																																																				0.401	MAGI1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349127.2	NM_004742		7	191						7	191	---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113380090	113380090	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:113380090delT	ENST00000478658.1	-	5	456	c.439delA	c.(439-441)attfs	p.I148fs	KIAA2018_ENST00000316407.4_Frame_Shift_Del_p.I148fs|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	148						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TAAACAATAATTTTTTTTTGA	0.373																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(439-441)ttfs		KIAA2018							90.0	87.0	88.0					3																	113380090		1813	4072	5885	SO:0001589	frameshift_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113380090delT	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.439delA	3.37:g.113380090delT	ENSP00000420721:p.Ile148fs					KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.I148fs	p.I148fs	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	849	-			148					Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Del	DEL	ENST00000478658.1	37	c.439delA	CCDS43133.1																																																																																				0.373	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		8	407						8	407	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	CAG	-	rs147600909		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:151148114_151148116delCAG	ENST00000474524.1	+	42	6369_6371	c.6331_6333delCAG	c.(6331-6333)cagdel	p.Q2115del	MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2115	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCAGC	0.527																																						ENST00000474524.1																			1	Substitution - Missense(1)	p.Q2111E(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(6331-6333)del		mediator complex subunit 12-like																																				SO:0001651	inframe_deletion	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151148114_151148116delCAG	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6331_6333delCAG	3.37:g.151148123_151148125delCAG	ENSP00000417235:p.Gln2115del					MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	p.Q2115del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		42	6369_6371	+			2115			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	In_Frame_Del	DEL	ENST00000474524.1	37	c.6331_6333delCAG	CCDS33876.1																																																																																				0.527	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		8	349						8	349	---	---	---	---
PHC3	80012	broad.mit.edu	37	3	169896635	169896637	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:169896635_169896637delTGG	ENST00000494943.1	-	2	136_138	c.68_70delCCA	c.(67-72)accatc>atc	p.T23del	PHC3_ENST00000467570.1_In_Frame_Del_p.T35del|PHC3_ENST00000474275.1_In_Frame_Del_p.T23del|PHC3_ENST00000495893.2_In_Frame_Del_p.T35del|PHC3_ENST00000481639.1_In_Frame_Del_p.T35del|PHC3_ENST00000497658.1_In_Frame_Del_p.T35del			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	23	Poly-Thr.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAAgtggtgatggtggtggtggt	0.493																																						ENST00000494943.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26						c.(67-72)atc>a		polyhomeotic homolog 3 (Drosophila)				6,3998		2,2,1998						3.6	1.0			276	21,8059		10,1,4029	no	coding	PHC3	NM_024947.3		12,3,6027	A1A1,A1R,RR		0.2599,0.1499,0.2234				27,12057				SO:0001651	inframe_deletion	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169896635_169896637delTGG		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.68_70delCCA	3.37:g.169896644_169896646delTGG	ENSP00000420271:p.Thr23del					PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del|PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del|PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del|PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del|PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del	p.TI23del			Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		2	136_138	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		23			Poly-Thr.		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	In_Frame_Del	DEL	ENST00000494943.1	37	c.68_70delCCA																																																																																					0.493	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		16	1090						16	1090	---	---	---	---
LIMCH1	22998	broad.mit.edu	37	4	41648508	41648509	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:41648508_41648509delGA	ENST00000313860.7	+	12	1317_1318	c.1263_1264delGA	c.(1261-1266)cggagafs	p.RR421fs	LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	421					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.E810fs*3(1)|p.E425fs*3(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TTAGAGAGCGGAGAGAGAGAGA	0.465																																						ENST00000313860.7																			2	Deletion - Frameshift(2)	p.E810fs*3(1)|p.E425fs*3(1)	ovary(2)	central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(1261-1266)cggafs		LIM and calponin homology domains 1																																				SO:0001589	frameshift_variant	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41648508_41648509delGA	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.1263_1264delGA	4.37:g.41648518_41648519delGA	ENSP00000316891:p.Arg421fs					LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs	p.RR421fs	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN			12	1317_1318	+			421					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Frame_Shift_Del	DEL	ENST00000313860.7	37	c.1263_1264delGA	CCDS33977.1																																																																																				0.465	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		11	576						11	576	---	---	---	---
SEC31A	22872	broad.mit.edu	37	4	83785564	83785565	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:83785564_83785565insT	ENST00000395310.2	-	11	1566_1567	c.1384_1385insA	c.(1384-1386)attfs	p.I462fs	SEC31A_ENST00000348405.4_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000443462.2_Frame_Shift_Ins_p.I457fs|SEC31A_ENST00000311785.7_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000355196.2_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000505472.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000500777.2_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000508479.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000432794.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000448323.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000264405.5_Frame_Shift_Ins_p.I234fs|SEC31A_ENST00000508502.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000513858.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000326950.5_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000509142.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000505984.1_Frame_Shift_Ins_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)				AGAAGCATCAATTTTTTTTTGG	0.356																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	2	Deletion - Frameshift(2)	p.I462fs*16(2)	lung(2)	breast(1)	1						c.(1384-1386)tgafs		SEC31 homolog A (S. cerevisiae)																																				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.chr4:83785564_83785565insT	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.1385dupA	4.37:g.83785573_83785573dupT	ENSP00000378721:p.Ile462fs					SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000509142.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000508479.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000508502.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000505984.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000505472.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000500777.2_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000448323.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000443462.2_Frame_Shift_Ins_p.*457fs|SEC31A_ENST00000395310.2_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000355196.2_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000348405.4_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000326950.5_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000311785.7_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000513858.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000264405.5_Frame_Shift_Ins_p.*234fs	p.*462fs			O94979	SC31A_HUMAN			11	1547_1548	-		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_Ins	INS	ENST00000395310.2	37	c.1384_1385insA	CCDS3596.1																																																																																				0.356	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		7	339						7	339	---	---	---	---
PRIMPOL	201973	broad.mit.edu	37	4	185599474	185599475	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:185599474_185599475insT	ENST00000314970.6	+	8	1366_1367	c.933_934insT	c.(934-936)tttfs	p.F312fs	PRIMPOL_ENST00000512834.1_Frame_Shift_Ins_p.F312fs|PRIMPOL_ENST00000515774.1_Frame_Shift_Ins_p.F183fs|PRIMPOL_ENST00000503752.1_Frame_Shift_Ins_p.F312fs	NM_152683.2	NP_689896	Q96LW4	PRIPO_HUMAN	primase and polymerase (DNA-directed)	312					mitochondrial DNA replication (GO:0006264)|replication fork processing (GO:0031297)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA primase activity (GO:0003896)|DNA-directed DNA polymerase activity (GO:0003887)|manganese ion binding (GO:0030145)										AAGATAACAAATTTTTTCCTAT	0.327																																						ENST00000314970.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16						c.(931-936)aattttfs																																						SO:0001589	frameshift_variant	0				DNA replication, synthesis of RNA primer		DNA primase activity	g.chr4:185599474_185599475insT	AK057729	CCDS3837.1, CCDS75211.1, CCDS75212.1	4q35.1	2013-09-27	2013-09-27	2013-09-27	ENSG00000164306	ENSG00000164306			26575	protein-coding gene	gene with protein product		615421	"""coiled-coil domain containing 111"""	CCDC111		12477932	Standard	XM_005262814		Approved	FLJ33167	uc003iwk.2	Q96LW4	OTTHUMG00000160495	ENST00000314970.6:c.939dupT	4.37:g.185599480_185599480dupT	ENSP00000313816:p.Phe312fs					CCDC111_ENST00000515774.1_Frame_Shift_Ins_p.NF182fs|CCDC111_ENST00000512834.1_Frame_Shift_Ins_p.NF311fs|CCDC111_ENST00000503752.1_Frame_Shift_Ins_p.NF311fs	p.NF311fs	NM_152683.2	NP_689896.1	Q96LW4	CC111_HUMAN		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)	8	1366_1367	+		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)	311					D3DP55|D6RDM1|Q5HYJ9	Frame_Shift_Ins	INS	ENST00000314970.6	37	c.933_934insT	CCDS3837.1																																																																																				0.327	PRIMPOL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360827.1	NM_152683		20	171						20	171	---	---	---	---
PCDHB4	56131	broad.mit.edu	37	5	140502486	140502487	+	Frame_Shift_Ins	INS	-	-	A	rs372292910		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr5:140502486_140502487insA	ENST00000194152.1	+	1	906_907	c.906_907insA	c.(907-909)aaafs	p.K303fs	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	303	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K305fs*12(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATACTGTTGAAAAAAAAATT	0.366																																						ENST00000194152.1																			1	Deletion - Frameshift(1)	p.K305fs*12(1)	lung(1)	autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(904-909)ttaaaafs						6,4244		0,6,2119						3.5	0.7			99	16,8224		0,16,4104	no	frameshift	PCDHB4	NM_018938.2		0,22,6223	A1A1,A1R,RR		0.1942,0.1412,0.1761				22,12468				SO:0001589	frameshift_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502486_140502487insA	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.915dupA	5.37:g.140502495_140502495dupA	ENSP00000194152:p.Lys303fs						p.LK302fs	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	906_907	+			302			Cadherin 3.		Q4V761	Frame_Shift_Ins	INS	ENST00000194152.1	37	c.906_907insA	CCDS4246.1																																																																																				0.366	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		9	558						9	558	---	---	---	---
HMMR	3161	broad.mit.edu	37	5	162917425	162917426	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr5:162917425_162917426insA	ENST00000358715.3	+	17	2025_2026	c.1989_1990insA	c.(1990-1992)aaafs	p.K664fs	HMMR_ENST00000432118.2_Frame_Shift_Ins_p.K578fs|HMMR_ENST00000393915.4_Frame_Shift_Ins_p.K665fs|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.K649fs|RP11-80G7.1_ENST00000514724.2_RNA			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	664	Hyaluronic acid-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	GTCAGCTTGCTAAAAAAAAACA	0.307																																						ENST00000416990.2																			0				cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23						c.(1645-1650)gcaaaafs		hyaluronan-mediated motility receptor (RHAMM)																																				SO:0001589	frameshift_variant	3161					cell surface|cytoplasm	hyaluronic acid binding	g.chr5:162917425_162917426insA	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1998dupA	5.37:g.162917434_162917434dupA	ENSP00000351554:p.Lys664fs					HMMR_ENST00000358715.3_Frame_Shift_Ins_p.AK663fs|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.AK648fs|RP11-80G7.1_ENST00000514724.2_RNA|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.AK577fs|HMMR_ENST00000393915.4_Frame_Shift_Ins_p.AK664fs	p.AK549fs			O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	17	2144_2145	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	663					A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Frame_Shift_Ins	INS	ENST00000358715.3	37	c.1647_1648insA	CCDS4362.1																																																																																				0.307	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		8	419						8	419	---	---	---	---
UNC5A	90249	broad.mit.edu	37	5	176301302	176301304	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr5:176301302_176301304delCAC	ENST00000329542.4	+	8	1387_1389	c.1113_1115delCAC	c.(1111-1116)agcacc>agc	p.T376del	UNC5A_ENST00000261961.3_In_Frame_Del_p.T336del	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	376					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGACCTCAGCACCACCACCACC	0.645																																						ENST00000329542.4																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34						c.(1111-1116)agc>ag		unc-5 homolog A (C. elegans)																																				SO:0001651	inframe_deletion	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176301302_176301304delCAC	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1113_1115delCAC	5.37:g.176301311_176301313delCAC	ENSP00000332737:p.Thr376del					UNC5A_ENST00000261961.3_In_Frame_Del_p.ST331del	p.ST371del	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1387_1389	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	371					B2RXE6|Q8TF26|Q96GP4	In_Frame_Del	DEL	ENST00000329542.4	37	c.1113_1115delCAC	CCDS34299.1																																																																																				0.645	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		8	391						8	391	---	---	---	---
SUDS3P1	285647	broad.mit.edu	37	5	177398373	177398396	+	RNA	DEL	AGGACGAAGAGCTGGAGAGCGCCA	AGGACGAAGAGCTGGAGAGCGCCA	-	rs548039666|rs70994948|rs71585660|rs568597025|rs535774316	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	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			8	14						8	14	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32523273	32523274	+	RNA	DEL	GA	GA	-	rs142054686		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr6:32523273_32523274delGA	ENST00000411500.1	-	0	458					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		ATTCCACTGTGAGAGGGCTCAT	0.396																																						ENST00000411500.1																			0																																																			0							g.chr6:32523273_32523274delGA	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.32523275_32523276delGA								NR_001298.1						0	458	-									RNA	DEL	ENST00000411500.1	37																																																																																						0.396	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		9	43						9	43	---	---	---	---
KIAA1919	91749	broad.mit.edu	37	6	111587361	111587361	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr6:111587361delT	ENST00000368847.4	+	4	949	c.596delT	c.(595-597)attfs	p.I199fs		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	199					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		GTTTCTGTCATTTTTTTTTGT	0.368																																						ENST00000368847.4																			0				large_intestine(3)|lung(2)|ovary(4)|skin(3)	12						c.(595-597)atfs		KIAA1919							70.0	67.0	68.0					6																	111587361		2203	4300	6503	SO:0001589	frameshift_variant	91749				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr6:111587361delT	BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.596delT	6.37:g.111587361delT	ENSP00000357840:p.Ile199fs						p.I199fs	NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)	4	949	+		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)	199					A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Frame_Shift_Del	DEL	ENST00000368847.4	37	c.596delT	CCDS5090.1																																																																																				0.368	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	NM_153369		8	340						8	340	---	---	---	---
AGPAT4	56895	broad.mit.edu	37	6	161560589	161560589	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr6:161560589delG	ENST00000320285.4	-	8	1119	c.907delC	c.(907-909)cggfs	p.R304fs	AGPAT4_ENST00000457520.2_Frame_Shift_Del_p.R142fs|AGPAT4_ENST00000366911.5_3'UTR	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	304					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.R303fs*7(2)|p.R303fs*60(1)		endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CAGGGCCGCCGGGGGGGCACC	0.627																																						ENST00000320285.4																			3	Deletion - Frameshift(2)|Insertion - Frameshift(1)	p.R303fs*7(2)|p.R303fs*60(1)	large_intestine(2)|ovary(1)	endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25						c.(907-909)ggfs		1-acylglycerol-3-phosphate O-acyltransferase 4							60.0	70.0	66.0					6																	161560589		2203	4300	6503	SO:0001589	frameshift_variant	56895				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	g.chr6:161560589delG	AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20885	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, delta"""	614795	"""1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"""				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.907delC	6.37:g.161560589delG	ENSP00000314036:p.Arg304fs					AGPAT4_ENST00000457520.2_Frame_Shift_Del_p.R142fs|AGPAT4_ENST00000366911.5_3'UTR	p.R304fs	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)	8	1119	-		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)	304					B4DSF9|Q5TEF0	Frame_Shift_Del	DEL	ENST00000320285.4	37	c.907delC	CCDS5280.1																																																																																				0.627	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	NM_020133		9	858						9	858	---	---	---	---
TRGC2	6967	broad.mit.edu	37	7	38284886	38284887	+	RNA	DEL	GT	GT	-	rs377514954|rs73692143	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:38284886_38284887delGT	ENST00000436911.2	-	0	330							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										ATTTGTCAAGgtgtgtgtgtgt	0.391																																						ENST00000436911.2																			0																																																			0							g.chr7:38284886_38284887delGT	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38284896_38284897delGT														0	330	-									RNA	DEL	ENST00000436911.2	37																																																																																						0.391	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		7	355						7	355	---	---	---	---
FOXP2	93986	broad.mit.edu	37	7	114269971	114269973	+	In_Frame_Del	DEL	CAA	CAA	-	rs576887296|rs398124272	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:114269971_114269973delCAA	ENST00000393494.2	+	5	787_789	c.508_510delCAA	c.(508-510)caadel	p.Q191del	FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393500.3_In_Frame_Del_p.Q116del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del			O15409	FOXP2_HUMAN	forkhead box P2	191	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						acagcagcagcaacaacaacaac	0.502														34	0.00678914	0.0015	0.0072	5008	,	,		16128	0.0228		0.004	False		,,,				2504	0.0					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)del		forkhead box P2																																				SO:0001651	inframe_deletion	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.chr7:114269971_114269973delCAA	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.508_510delCAA	7.37:g.114269980_114269982delCAA	ENSP00000377132:p.Gln191del					FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del	p.Q116del			O15409	FOXP2_HUMAN			11	1103_1105	+			191			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	In_Frame_Del	DEL	ENST00000393494.2	37	c.283_285delCAA	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		8	181						8	181	---	---	---	---
FGFR1	2260	broad.mit.edu	37	8	38285914	38285916	+	In_Frame_Del	DEL	TCA	TCA	-	rs138489552		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr8:38285914_38285916delTCA	ENST00000447712.2	-	4	1337_1339	c.396_398delTGA	c.(394-399)gatgac>gac	p.132_133DD>D	FGFR1_ENST00000356207.5_In_Frame_Del_p.43_44DD>D|FGFR1_ENST00000335922.5_In_Frame_Del_p.124_125DD>D|FGFR1_ENST00000397108.4_In_Frame_Del_p.132_133DD>D|FGFR1_ENST00000425967.3_In_Frame_Del_p.165_166DD>D|FGFR1_ENST00000341462.5_In_Frame_Del_p.135_136DD>D|FGFR1_ENST00000397091.5_In_Frame_Del_p.132_133DD>D|FGFR1_ENST00000397103.1_In_Frame_Del_p.43_44DD>D|FGFR1_ENST00000532791.1_In_Frame_Del_p.132_133DD>D|FGFR1_ENST00000326324.6_In_Frame_Del_p.43_44DD>D|FGFR1_ENST00000397113.2_In_Frame_Del_p.132_133DD>D|RP11-350N15.4_ENST00000528407.1_RNA	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	132					angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.D133N(3)|p.D44N(1)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TGAAGAGGAGtcatcatcatcat	0.498		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)	ENST00000447712.2		1		Dom	yes		8	8p11.2-p11.1	2260	T	fibroblast growth factor receptor 1	yes	"""Pfeiffer syndrome, Kallman syndrome"""	L	"""BCR, FOP, ZNF198, CEP1"""		"""MPD, NHL"""	FGFR1/ZNF703(2)	4	Substitution - Missense(4)	p.D133N(3)|p.D44N(1)	stomach(4)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50						c.(394-399)gac>ga		fibroblast growth factor receptor 1	Palifermin(DB00039)		,,,,,,,,	46,3694		0,46,1824					,,,,,,,,	3.9	1.0		dbSNP_134	170	127,7795		0,127,3834	no	coding,coding,coding,coding,coding,coding,coding,coding,coding	FGFR1	NM_023110.2,NM_023106.2,NM_023105.2,NM_015850.3,NM_001174067.1,NM_001174066.1,NM_001174065.1,NM_001174064.1,NM_001174063.1	,,,,,,,,	0,173,5658	A1A1,A1R,RR		1.6031,1.2299,1.4835	,,,,,,,,	,,,,,,,,		173,11489				SO:0001651	inframe_deletion	2260				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	g.chr8:38285914_38285916delTCA	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.396_398delTGA	8.37:g.38285923_38285925delTCA	ENSP00000400162:p.Asp133del					FGFR1_ENST00000532791.1_In_Frame_Del_p.DD132del|FGFR1_ENST00000425967.3_In_Frame_Del_p.DD165del|FGFR1_ENST00000335922.5_In_Frame_Del_p.DD124del|FGFR1_ENST00000326324.6_In_Frame_Del_p.DD43del|FGFR1_ENST00000356207.5_In_Frame_Del_p.DD43del|FGFR1_ENST00000397113.2_In_Frame_Del_p.DD132del|FGFR1_ENST00000397091.5_In_Frame_Del_p.DD132del|FGFR1_ENST00000397108.4_In_Frame_Del_p.DD132del|FGFR1_ENST00000341462.5_In_Frame_Del_p.DD135del|FGFR1_ENST00000397103.1_In_Frame_Del_p.DD43del	p.DD132del	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		4	1337_1339	-	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	132					A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	In_Frame_Del	DEL	ENST00000447712.2	37	c.396_398delTGA	CCDS6107.2																																																																																				0.498	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				8	165						8	165	---	---	---	---
LYN	4067	broad.mit.edu	37	8	56863054	56863054	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr8:56863054delA	ENST00000519728.1	+	5	617	c.321delA	c.(319-321)acafs	p.T107fs	LYN_ENST00000520220.2_Frame_Shift_Del_p.T86fs	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	107	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	CCCTTTTAACAAAAAAAGAAG	0.378																																						ENST00000520220.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(256-258)acfs		v-yes-1 Yamaguchi sarcoma viral related oncogene homolog							203.0	204.0	203.0					8																	56863054		2203	4300	6503	SO:0001589	frameshift_variant	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56863054delA	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.321delA	8.37:g.56863054delA	ENSP00000428924:p.Thr107fs					LYN_ENST00000519728.1_Frame_Shift_Del_p.T107fs	p.T86fs	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		5	532	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	107			SH3.		A0AVQ5	Frame_Shift_Del	DEL	ENST00000519728.1	37	c.258delA	CCDS6162.1																																																																																				0.378	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		8	934						8	934	---	---	---	---
TOX	9760	broad.mit.edu	37	8	59750796	59750798	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr8:59750796_59750798delCTT	ENST00000361421.1	-	5	986_988	c.766_768delAAG	c.(766-768)aagdel	p.K256del		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	256						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CATTGGGATCCTTCTTCTTCTTC	0.453																																					Pancreas(161;610 1969 17913 21374 22725)	ENST00000361421.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33						c.(766-768)del		thymocyte selection-associated high mobility group box																																				SO:0001651	inframe_deletion	9760					nucleus	DNA binding	g.chr8:59750796_59750798delCTT		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.766_768delAAG	8.37:g.59750805_59750807delCTT	ENSP00000354842:p.Lys256del						p.K256del	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN			5	986_988	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	256					Q96AV5	In_Frame_Del	DEL	ENST00000361421.1	37	c.766_768delAAG	CCDS34897.1																																																																																				0.453	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		8	618						8	618	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21974769	21974770	+	In_Frame_Ins	INS	-	-	GGCCGT			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr9:21974769_21974770insGGCCGT	ENST00000304494.5	-	1	327_328	c.57_58insACGGCC	c.(55-60)gccgcg>gccACGGCCgcg	p.18_19insAT	CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579122.1_In_Frame_Ins_p.18_19insAT|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_In_Frame_Ins_p.18_19insAT|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000446177.1_In_Frame_Ins_p.18_19insAT	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	18			A -> ATA (in CMM2; loss of CDK4 binding).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.A20P(3)|p.A19_A20insTA(3)|p.A20T(2)|p.S12fs*6(1)|p.0(1)|p.A20fs*26(1)|p.S12fs*20(1)|p.A17fs*5(1)|p.S7_A19del(1)|p.A20fs*6(1)|p.A20_A21del(1)|p.A20S(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCCGGGCCGCGGCCGTGGCCA	0.743		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1355	Whole gene deletion(1316)|Unknown(23)|Substitution - Missense(6)|Deletion - Frameshift(4)|Insertion - In frame(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	p.0?(1315)|p.?(23)|p.A20P(3)|p.A19_A20insTA(3)|p.A20T(2)|p.S12fs*6(1)|p.0(1)|p.A20fs*26(1)|p.S12fs*20(1)|p.A17fs*5(1)|p.S7_A19del(1)|p.A20fs*6(1)|p.A20_A21del(1)|p.A20S(1)	haematopoietic_and_lymphoid_tissue(279)|skin(169)|central_nervous_system(163)|lung(148)|urinary_tract(90)|bone(73)|soft_tissue(57)|oesophagus(53)|pleura(52)|upper_aerodigestive_tract(47)|pancreas(35)|ovary(34)|kidney(31)|breast(30)|thyroid(14)|biliary_tract(14)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)|adrenal_gland(1)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CI983050	CDKN2A	I		c.(55-60)gccggc>gcACGGCCcggc		cyclin-dependent kinase inhibitor 2A																																				SO:0001652	inframe_insertion	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974769_21974770insGGCCGT	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.52_57dupACGGCC	9.37:g.21974770_21974775dupGGCCGT	ENSP00000307101:p.Ala17_Thr18dup	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000446177.1_In_Frame_Ins_p.19_20AG>ARPG|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_In_Frame_Ins_p.19_20AG>ARPG|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498124.1_In_Frame_Ins_p.19_20AG>ARPG|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron	p.19_20AG>ARPG	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	327_328	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	19		A -> ATA (in CMM2; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	In_Frame_Ins	INS	ENST00000304494.5	37	c.57_58insACGGCC	CCDS6510.1																																																																																				0.743	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		27	140						27	140	---	---	---	---
DAB2IP	153090	broad.mit.edu	37	9	124522389	124522391	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr9:124522389_124522391delAAG	ENST00000408936.3	+	6	1023_1025	c.841_843delAAG	c.(841-843)aagdel	p.K285del	DAB2IP_ENST00000259371.2_In_Frame_Del_p.K257del|DAB2IP_ENST00000309989.1_In_Frame_Del_p.K161del			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	285	C2.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GGAGACCGACAAGAAGAAGAAGA	0.601																																						ENST00000408936.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(841-843)del		DAB2 interacting protein																																				SO:0001651	inframe_deletion	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124522389_124522391delAAG	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.841_843delAAG	9.37:g.124522398_124522400delAAG	ENSP00000386183:p.Lys285del					DAB2IP_ENST00000309989.1_In_Frame_Del_p.K161del|DAB2IP_ENST00000259371.2_In_Frame_Del_p.K257del	p.K285del			Q5VWQ8	DAB2P_HUMAN			6	1023_1025	+			285			C2.		A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	In_Frame_Del	DEL	ENST00000408936.3	37	c.841_843delAAG																																																																																					0.601	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		8	275						8	275	---	---	---	---
GOLGA2	2801	broad.mit.edu	37	9	131019389	131019390	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr9:131019389_131019390insA	ENST00000421699.2	-	26	2977_2978	c.2965_2966insT	c.(2965-2967)tacfs	p.Y989fs	GOLGA2_ENST00000609374.1_Frame_Shift_Ins_p.Y977fs|AL590708.1_ENST00000408370.1_RNA	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	989					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.Y977fs*9(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GTCAGCCCGGTAAAAAAAAGGA	0.564																																						ENST00000421699.2																			2	Deletion - Frameshift(2)	p.Y977fs*9(2)	ovary(1)|large_intestine(1)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(2965-2967)ccgfs		golgin A2																																				SO:0001589	frameshift_variant	2801					Golgi cisterna membrane	protein binding	g.chr9:131019389_131019390insA	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2966dupT	9.37:g.131019397_131019397dupA	ENSP00000416097:p.Tyr989fs						p.P989fs	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN			26	2977_2978	-			989					Q6GRM9|Q9BRB0|Q9NYF9	Frame_Shift_Ins	INS	ENST00000421699.2	37	c.2965_2966insT	CCDS6896.2																																																																																				0.564	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		8	726						8	726	---	---	---	---
EXD3	54932	broad.mit.edu	37	9	140267462	140267462	+	Frame_Shift_Del	DEL	G	G	-	rs200027265		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr9:140267462delG	ENST00000340951.4	-	5	552	c.357delC	c.(355-357)cccfs	p.P119fs	EXD3_ENST00000479452.1_Frame_Shift_Del_p.P119fs|EXD3_ENST00000342129.4_5'UTR|EXD3_ENST00000475006.1_5'UTR	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0	Pro-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CCGCAAGGCTGGGGGGGCTCT	0.647																																						ENST00000340951.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						c.(355-357)ccfs		exonuclease 3'-5' domain containing 3																																				SO:0001589	frameshift_variant	54932				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr9:140267462delG		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.357delC	9.37:g.140267462delG	ENSP00000340474:p.Pro119fs					EXD3_ENST00000479452.1_Frame_Shift_Del_p.P119fs|EXD3_ENST00000342129.4_5'UTR|EXD3_ENST00000475006.1_5'UTR	p.P119fs	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN			5	552	-			119					Q6P1M1|Q8IXT8	Frame_Shift_Del	DEL	ENST00000340951.4	37	c.357delC	CCDS48066.1																																																																																				0.647	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		7	505						7	505	---	---	---	---
PLCE1	51196	broad.mit.edu	37	10	95791760	95791760	+	Frame_Shift_Del	DEL	G	G	-	rs573916830	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr10:95791760delG	ENST00000371380.3	+	1	1192	c.957delG	c.(955-957)aagfs	p.K319fs	PLCE1_ENST00000260766.3_Frame_Shift_Del_p.K319fs			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	319					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAAGCAAAAAGGAGCGATCCA	0.388																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(955-957)aafs		phospholipase C, epsilon 1							114.0	112.0	113.0					10																	95791760		1853	4088	5941	SO:0001589	frameshift_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95791760delG		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.957delG	10.37:g.95791760delG	ENSP00000360431:p.Lys319fs					PLCE1_ENST00000371380.2_Frame_Shift_Del_p.K319fs	p.K319fs	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			2	1591	+		Colorectal(252;0.0458)	319					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Frame_Shift_Del	DEL	ENST00000371380.3	37	c.957delG	CCDS41552.1																																																																																				0.388	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		64	404						64	404	---	---	---	---
PAMR1	25891	broad.mit.edu	37	11	35513670	35513670	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:35513670delC	ENST00000378880.2	-	3	747	c.302delG	c.(301-303)ggtfs	p.G101fs	PAMR1_ENST00000532848.1_Frame_Shift_Del_p.G61fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000378878.3_Frame_Shift_Del_p.G101fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						ATCCAAGGTACCCCCCCATGA	0.517																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(301-303)gtfs		peptidase domain containing associated with muscle regeneration 1							201.0	193.0	196.0					11																	35513670		2202	4298	6500	SO:0001589	frameshift_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35513670delC		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.302delG	11.37:g.35513670delC	ENSP00000368158:p.Gly101fs					PAMR1_ENST00000532848.1_Frame_Shift_Del_p.G61fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000378878.3_Frame_Shift_Del_p.G101fs	p.G101fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			3	747	-			101					A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Frame_Shift_Del	DEL	ENST00000378880.2	37	c.302delG	CCDS31460.1																																																																																				0.517	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		8	1136						8	1136	---	---	---	---
PAK1	5058	broad.mit.edu	37	11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_ENST00000530617.1_In_Frame_Del_p.D183del|PAK1_ENST00000528203.1_In_Frame_Del_p.D85del|PAK1_ENST00000278568.4_In_Frame_Del_p.D183del|PAK1_ENST00000525542.1_5'UTR	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478																																						ENST00000356341.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29						c.(547-552)gct>g		p21 protein (Cdc42/Rac)-activated kinase 1			,	392,0,3872		189,0,14,0,0,1929					,	3.9	1.0		dbSNP_134	110	824,25,7405		391,0,42,0,25,3669	no	codingComplex,codingComplex	PAK1	NM_002576.4,NM_001128620.1	,	580,0,56,0,25,5598	A1A1,A1A2,A1R,A2A2,A2R,RR		10.2859,9.1932,9.9137	,	,		1216,25,11277				SO:0001651	inframe_deletion	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77069990_77069992delCAT	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"""STE20 homolog, yeast"""	602590	"""p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"""			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.548_550delATG	11.37:g.77069999_77070001delCAT	ENSP00000348696:p.Asp183del					PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del	p.DA183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN			6	1079_1081	-	all_cancers(14;1.75e-18)		183			Interaction with CRIPAK.		O75561|Q13567|Q32M53|Q32M54|Q86W79	In_Frame_Del	DEL	ENST00000356341.3	37	c.548_550delATG	CCDS8250.1																																																																																				0.478	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		7	397						7	397	---	---	---	---
ANKRD49	54851	broad.mit.edu	37	11	94230058	94230059	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:94230058_94230059insA	ENST00000544612.1	+	2	696_697	c.199_200insA	c.(199-201)gaafs	p.E67fs	ANKRD49_ENST00000544253.1_Frame_Shift_Ins_p.E67fs|ANKRD49_ENST00000540349.1_Frame_Shift_Ins_p.E67fs|MRE11A_ENST00000323929.3_5'Flank|ANKRD49_ENST00000302755.4_Frame_Shift_Ins_p.E67fs	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	67					positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCGATTGCAAGAAAAAAAAATG	0.381																																					Melanoma(113;823 1621 4352 9582 22033)	ENST00000544253.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12						c.(199-201)aaafs		ankyrin repeat domain 49				38,4226		0,38,2094						5.6	1.0			79	34,8214		0,34,4090	no	frameshift	ANKRD49	NM_017704.2		0,72,6184	A1A1,A1R,RR		0.4122,0.8912,0.5754				72,12440				SO:0001589	frameshift_variant	54851				positive regulation of transcription, DNA-dependent			g.chr11:94230058_94230059insA	AF025354	CCDS8300.1	11q21	2013-01-10				ENSG00000168876		"""Ankyrin repeat domain containing"""	25970	protein-coding gene	gene with protein product						11162141	Standard	NM_017704		Approved	FLJ20189, FGIF, GBIF	uc001pew.3	Q8WVL7		ENST00000544612.1:c.208dupA	11.37:g.94230067_94230067dupA	ENSP00000440396:p.Glu67fs					ANKRD49_ENST00000544612.1_Frame_Shift_Ins_p.K67fs|ANKRD49_ENST00000540349.1_Frame_Shift_Ins_p.K67fs|ANKRD49_ENST00000302755.4_Frame_Shift_Ins_p.K67fs	p.K67fs			Q8WVL7	ANR49_HUMAN			2	317_318	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	67					Q8NDF2|Q96JE5|Q9NXK7	Frame_Shift_Ins	INS	ENST00000544612.1	37	c.199_200insA	CCDS8300.1																																																																																				0.381	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396314.2	NM_017704		10	425						10	425	---	---	---	---
CADM1	23705	broad.mit.edu	37	11	115080312	115080314	+	In_Frame_Del	DEL	TGG	TGG	-	rs370430583		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:115080312_115080314delTGG	ENST00000452722.3	-	8	1078_1080	c.1058_1060delCCA	c.(1057-1062)accatc>atc	p.T353del	CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537058.1_In_Frame_Del_p.T353del|CADM1_ENST00000331581.6_In_Frame_Del_p.T353del	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		atggtaaggatggtggtggtggt	0.429																																						ENST00000537058.1																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1057-1062)atc>a		cell adhesion molecule 1																																				SO:0001651	inframe_deletion	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115080312_115080314delTGG	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1058_1060delCCA	11.37:g.115080321_115080323delTGG	ENSP00000395359:p.Thr353del					CADM1_ENST00000452722.2_In_Frame_Del_p.TI353del|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000331581.6_In_Frame_Del_p.TI353del|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537140.1_Intron	p.TI353del			Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	8	1078_1080	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	353	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).					In_Frame_Del	DEL	ENST00000452722.3	37	c.1058_1060delCCA	CCDS8373.1																																																																																				0.429	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		12	317						12	317	---	---	---	---
PRB2	653247	broad.mit.edu	37	12	11546506	11546508	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:11546506_11546508delTTG	ENST00000389362.4	-	3	539_541	c.504_506delCAA	c.(502-507)aacaag>aag	p.N168del	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	168	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTCGGGACTTGTTGTCTCCTT	0.596																																						ENST00000389362.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(502-507)aag>aa		proline-rich protein BstNI subfamily 2																																				SO:0001651	inframe_deletion	653247							g.chr12:11546506_11546508delTTG	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.504_506delCAA	12.37:g.11546509_11546511delTTG	ENSP00000374013:p.Asn168del					PRB1_ENST00000546254.1_Intron	p.NK168del	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	539_541	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	In_Frame_Del	DEL	ENST00000389362.4	37	c.504_506delCAA	CCDS41757.2																																																																																				0.596	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		14	872						14	872	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26640046	26640046	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:26640046delT	ENST00000381340.3	-	40	5925	c.5509delA	c.(5509-5511)aggfs	p.R1837fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1837					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TCATCGTCCCTTTTTTTGTTA	0.358																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(5509-5511)ggfs		inositol 1,4,5-trisphosphate receptor, type 2							206.0	188.0	193.0					12																	26640046		1860	4102	5962	SO:0001589	frameshift_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26640046delT	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.5509delA	12.37:g.26640046delT	ENSP00000370744:p.Arg1837fs						p.R1837fs	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			40	5925	-	Colorectal(261;0.0847)		1837					O94773	Frame_Shift_Del	DEL	ENST00000381340.3	37	c.5509delA	CCDS41764.1																																																																																				0.358	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		7	406						7	406	---	---	---	---
OR10A7	121364	broad.mit.edu	37	12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tacttc>tac	p.F107del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414																																						ENST00000326258.1																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(304-309)tac>ta		olfactory receptor, family 10, subfamily A, member 7																																				SO:0001651	inframe_deletion	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615114_55615116delCTT	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.306_308delCTT	12.37:g.55615123_55615125delCTT	ENSP00000326718:p.Phe107del						p.YF102del	NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN			1	306_308	+			102					Q6IFD5|Q96R19	In_Frame_Del	DEL	ENST00000326258.1	37	c.306_308delCTT	CCDS31815.1																																																																																				0.414	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			9	742						9	742	---	---	---	---
R3HDM2	22864	broad.mit.edu	37	12	57674205	57674207	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:57674205_57674207delTGC	ENST00000347140.3	-	14	1626_1628	c.1236_1238delGCA	c.(1234-1239)cagcaa>caa	p.412_413QQ>Q	R3HDM2_ENST00000441731.2_In_Frame_Del_p.73_74QQ>Q|R3HDM2_ENST00000358907.2_In_Frame_Del_p.412_413QQ>Q|R3HDM2_ENST00000402412.1_In_Frame_Del_p.426_427QQ>Q|R3HDM2_ENST00000413953.2_In_Frame_Del_p.139_140QQ>Q|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000403821.2_In_Frame_Del_p.412_413QQ>Q			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	412	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGCAGGAAGTtgctgctgctgct	0.576																																						ENST00000402412.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1276-1281)caa>ca		R3H domain containing 2																																				SO:0001651	inframe_deletion	22864					nucleus	nucleic acid binding	g.chr12:57674205_57674207delTGC	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1236_1238delGCA	12.37:g.57674214_57674216delTGC	ENSP00000317903:p.Gln413del					R3HDM2_ENST00000413953.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000441731.2_In_Frame_Del_p.QQ73del|R3HDM2_ENST00000393811.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000403821.2_In_Frame_Del_p.QQ412del|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000358907.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000347140.3_In_Frame_Del_p.QQ412del	p.QQ426del			Q9Y2K5	R3HD2_HUMAN			14	1668_1670	-			412			Gln-rich.		Q2M1T9|Q3ZCT5	In_Frame_Del	DEL	ENST00000347140.3	37	c.1278_1280delGCA	CCDS8937.2																																																																																				0.576	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		12	378						12	378	---	---	---	---
TMTC3	160418	broad.mit.edu	37	12	88566417	88566417	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:88566417delT	ENST00000266712.6	+	8	1314	c.1094delT	c.(1093-1095)cttfs	p.L365fs		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	365					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						GCATCGAACCTTTTTTTTCCA	0.313																																						ENST00000266712.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						c.(1093-1095)ctfs		transmembrane and tetratricopeptide repeat containing 3				18,4246		6,6,2120	135.0	127.0	130.0			5.5	1.0	12		131	19,8235		6,7,4114	no	frameshift	TMTC3	NM_181783.3		12,13,6234	A1A1,A1R,RR		0.2302,0.4221,0.2956			88566417	37,12481	2203	4299	6502	SO:0001589	frameshift_variant	160418					integral to membrane	binding	g.chr12:88566417delT		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1094delT	12.37:g.88566417delT	ENSP00000266712:p.Leu365fs						p.L365fs	NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN			8	1314	+			365					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Frame_Shift_Del	DEL	ENST00000266712.6	37	c.1094delT	CCDS9032.1																																																																																				0.313	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		7	589						7	589	---	---	---	---
PPTC7	160760	broad.mit.edu	37	12	111020740	111020742	+	In_Frame_Del	DEL	CGC	CGC	-	rs151075597	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:111020740_111020742delCGC	ENST00000354300.3	-	1	383_385	c.95_97delGCG	c.(94-99)ggcgac>gac	p.G32del		NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)	32	Gly-rich.					mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						AGTCCGTAGTcgccgccgccgcc	0.739														302	0.0603035	0.0719	0.1254	5008	,	,		10517	0.001		0.0924	False		,,,				2504	0.0266					ENST00000354300.3																			0				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(94-99)gac>g		PTC7 protein phosphatase homolog (S. cerevisiae)				149,1205		60,29,588						4.1	1.0		dbSNP_126	4	388,2704		139,110,1297	no	coding	PPTC7	NM_139283.1		199,139,1885	A1A1,A1R,RR		12.5485,11.0044,12.0783				537,3909				SO:0001651	inframe_deletion	160760						metal ion binding|phosphoprotein phosphatase activity	g.chr12:111020740_111020742delCGC	AF385435	CCDS9149.1	12q24.11	2009-11-05				ENSG00000196850			30695	protein-coding gene	gene with protein product	"""T cell activation protein phosphatase 2C"""	609668				15177553	Standard	NM_139283		Approved	TA-PP2C	uc001trh.1	Q8NI37	OTTHUMG00000169529	ENST00000354300.3:c.95_97delGCG	12.37:g.111020749_111020751delCGC	ENSP00000346255:p.Gly32del						p.GD32del	NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN			1	383_385	-			32			Gly-rich.		B3KWC5|Q68DZ7|Q6UY82	In_Frame_Del	DEL	ENST00000354300.3	37	c.95_97delGCG	CCDS9149.1																																																																																				0.739	PPTC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404635.1	NM_139283		5	9						5	9	---	---	---	---
RNASEH2B	79621	broad.mit.edu	37	13	51530587	51530587	+	Frame_Shift_Del	DEL	A	A	-	rs75254367		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr13:51530587delA	ENST00000336617.3	+	11	1315	c.916delA	c.(916-918)aaafs	p.K308fs	RNASEH2B_ENST00000422660.1_Intron|RNASEH2B_ENST00000495244.2_3'UTR	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	308					in utero embryonic development (GO:0001701)|negative regulation of gene expression (GO:0010629)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of DNA damage checkpoint (GO:2000001)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|ribonucleotide metabolic process (GO:0009259)|RNA catabolic process (GO:0006401)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		GGTAAAAAATAAAAAAAAAAT	0.299																																						ENST00000336617.3																			0				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(916-918)aafs		ribonuclease H2, subunit B			,	196,98,3922		10,2,174,0,96,1826	18.0	20.0	20.0		,	0.7	0.0	13	dbSNP_131	20	322,192,7686		10,1,301,0,191,3597	no	codingComplex,intron	RNASEH2B	NM_024570.3,NM_001142279.2	,	20,3,475,0,287,5423	A1A1,A1A2,A1R,A2A2,A2R,RR		6.2683,6.9734,6.5077	,	,	51530587	518,290,11608	2193	4282	6475	SO:0001589	frameshift_variant	79621				RNA catabolic process	nucleus|ribonuclease H2 complex		g.chr13:51530587delA	AK021774	CCDS9425.1, CCDS45047.1	13q14.3	2014-09-17	2006-08-17	2006-08-17	ENSG00000136104	ENSG00000136104			25671	protein-coding gene	gene with protein product		610326	"""deleted in lymphocytic leukemia 8"", ""Aicardi-Goutieres syndrome 2"""	DLEU8, AGS2		16845400	Standard	NM_001142279		Approved	FLJ11712	uc001vfa.4	Q5TBB1	OTTHUMG00000016937	ENST00000336617.3:c.916delA	13.37:g.51530587delA	ENSP00000337623:p.Lys308fs					RNASEH2B_ENST00000495244.2_3'UTR|RNASEH2B_ENST00000422660.1_Intron	p.K308fs	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN		GBM - Glioblastoma multiforme(99;9e-08)	11	1315	+		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)	308					G3XAJ1|Q05DR2|Q6PK48|Q9HAF7	Frame_Shift_Del	DEL	ENST00000336617.3	37	c.916delA	CCDS9425.1																																																																																				0.299	RNASEH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045006.3	NM_024570		10	213						10	213	---	---	---	---
SALL2	6297	broad.mit.edu	37	14	21991334	21991336	+	In_Frame_Del	DEL	GGT	GGT	-	rs113881459|rs569568436		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr14:21991334_21991336delGGT	ENST00000327430.3	-	2	2820_2822	c.2526_2528delACC	c.(2524-2529)ccacct>cct	p.842_843PP>P	SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000450879.2_In_Frame_Del_p.705_706PP>P	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_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_In_Frame_Del_p.PP705del|SALL2_ENST00000317492.5_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		10	419						10	419	---	---	---	---
ACIN1	22985	broad.mit.edu	37	14	23528502	23528503	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr14:23528502_23528503delTC	ENST00000262710.1	-	19	4207_4208	c.3880_3881delGA	c.(3880-3882)gaafs	p.E1294fs	ACIN1_ENST00000555053.1_Frame_Shift_Del_p.E1281fs|CDH24_ENST00000487137.2_5'Flank|ACIN1_ENST00000338631.6_Frame_Shift_Del_p.E567fs|ACIN1_ENST00000397341.3_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000605057.1_Frame_Shift_Del_p.E1236fs|ACIN1_ENST00000357481.2_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000557515.1_Frame_Shift_Del_p.E535fs|CDH24_ENST00000397359.3_5'Flank|ACIN1_ENST00000457657.1_Frame_Shift_Del_p.E1254fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1294	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ccgctccctttctctctctctc	0.629											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(3880-3882)afs		apoptotic chromatin condensation inducer 1																																				SO:0001589	frameshift_variant	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23528502_23528503delTC	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3880_3881delGA	14.37:g.23528512_23528513delTC	ENSP00000262710:p.Glu1294fs		OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	764	ACIN1_ENST00000397341.3_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000357481.2_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000338631.6_Frame_Shift_Del_p.E567fs|ACIN1_ENST00000605057.1_Frame_Shift_Del_p.E1236fs|ACIN1_ENST00000555053.1_Frame_Shift_Del_p.E1281fs|ACIN1_ENST00000557515.1_Frame_Shift_Del_p.E535fs|ACIN1_ENST00000457657.1_Frame_Shift_Del_p.E1254fs	p.E1294fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	19	4207_4208	-	all_cancers(95;1.36e-05)		1294			Arg/Asp/Glu/Lys-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Frame_Shift_Del	DEL	ENST00000262710.1	37	c.3880_3881delGA	CCDS9587.1																																																																																				0.629	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		9	186						9	186	---	---	---	---
IPO4	79711	broad.mit.edu	37	14	24655611	24655611	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr14:24655611delA	ENST00000354464.6	-	10	1063	c.887delT	c.(886-888)ttcfs	p.F296fs	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	296					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CACAATGGGGAAAAGGGTGTG	0.567																																						ENST00000354464.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33						c.(886-888)tcfs		importin 4							133.0	149.0	144.0					14																	24655611		1972	4167	6139	SO:0001589	frameshift_variant	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24655611delA	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.887delT	14.37:g.24655611delA	ENSP00000346453:p.Phe296fs					RP11-468E2.2_ENST00000561419.1_3'UTR	p.F296fs	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	10	1063	-			296					B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Frame_Shift_Del	DEL	ENST00000354464.6	37	c.887delT	CCDS9616.1																																																																																				0.567	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		9	764						9	764	---	---	---	---
ARHGAP5	394	broad.mit.edu	37	14	32562544	32562545	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr14:32562544_32562545insT	ENST00000345122.3	+	2	2984_2985	c.2669_2670insT	c.(2668-2673)gattttfs	p.DF890fs	ARHGAP5_ENST00000539826.2_Frame_Shift_Ins_p.DF890fs|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Frame_Shift_Ins_p.DF890fs|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Frame_Shift_Ins_p.DF890fs	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	890					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.F892fs*9(2)|p.D890V(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGCCAAGCAGATTTTTTTGAAA	0.406																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			3	Deletion - Frameshift(2)|Substitution - Missense(1)	p.F892fs*9(2)|p.D890V(1)	large_intestine(3)	NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(2668-2670)gttfs		Rho GTPase activating protein 5																																				SO:0001589	frameshift_variant	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32562544_32562545insT	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.2676dupT	14.37:g.32562551_32562551dupT	ENSP00000371897:p.Asp890fs					ARHGAP5_ENST00000539826.2_Frame_Shift_Ins_p.V890fs|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Frame_Shift_Ins_p.V890fs|ARHGAP5_ENST00000556611.1_Frame_Shift_Ins_p.V890fs	p.V890fs	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	2984_2985	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		890					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Frame_Shift_Ins	INS	ENST00000345122.3	37	c.2669_2670insT	CCDS32062.1																																																																																				0.406	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		87	334						87	334	---	---	---	---
YY1	7528	broad.mit.edu	37	14	100705708	100705710	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr14:100705708_100705710delGAG	ENST00000262238.4	+	1	387_389	c.127_129delGAG	c.(127-129)gagdel	p.E47del	RP11-638I2.4_ENST00000554537.1_RNA	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	47	Asp/Glu-rich (acidic).|Interaction with the SMAD1/SMAD4 complex.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|cell differentiation (GO:0030154)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromosome organization (GO:0051276)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to prostaglandin F (GO:0034696)|response to UV-C (GO:0010225)|RNA localization (GO:0006403)|spermatogenesis (GO:0007283)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|four-way junction DNA binding (GO:0000400)|RNA binding (GO:0003723)|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 transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E43delE(1)		cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				AGTggtgggcgaggaggaggagg	0.719																																						ENST00000262238.4																			1	Deletion - In frame(1)	p.E43delE(1)	prostate(1)	cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11						c.(127-129)del		YY1 transcription factor				381,3745		7,367,1689						1.4	0.5			18	569,7489		8,553,3468	no	coding	YY1	NM_003403.3		15,920,5157	A1A1,A1R,RR		7.0613,9.2341,7.7971				950,11234				SO:0001651	inframe_deletion	7528				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr14:100705708_100705710delGAG	BC020324	CCDS9957.1	14q	2013-01-08			ENSG00000100811	ENSG00000100811		"""INO80 complex subunits"", ""Zinc fingers, C2H2-type"""	12856	protein-coding gene	gene with protein product	"""INO80 complex subunit S"", ""Yin and Yang 1 protein"""	600013				1655281, 7912122	Standard	NM_003403		Approved	NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S	uc001ygy.2	P25490	OTTHUMG00000150479	ENST00000262238.4:c.127_129delGAG	14.37:g.100705717_100705719delGAG	ENSP00000262238:p.Glu47del						p.E47del	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN			1	387_389	+		Melanoma(154;0.152)	47			Asp/Glu-rich (acidic).		Q14935	In_Frame_Del	DEL	ENST00000262238.4	37	c.127_129delGAG	CCDS9957.1																																																																																				0.719	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318277.1	NM_003403		7	68						7	68	---	---	---	---
FAM214A	56204	broad.mit.edu	37	15	52901069	52901069	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr15:52901069delT	ENST00000261844.7	-	6	2194	c.2042delA	c.(2041-2043)aatfs	p.N681fs	FAM214A_ENST00000546305.2_Frame_Shift_Del_p.N688fs	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	681																	TTTTGAGTCATTTTTTTTGGA	0.284																																						ENST00000261844.7																			0											c.(2041-2043)atfs		family with sequence similarity 214, member A							63.0	59.0	60.0					15																	52901069		1787	4048	5835	SO:0001589	frameshift_variant	56204							g.chr15:52901069delT	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.2042delA	15.37:g.52901069delT	ENSP00000261844:p.Asn681fs					FAM214A_ENST00000546305.2_Frame_Shift_Del_p.N688fs	p.N681fs	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN			6	2194	-			681					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Frame_Shift_Del	DEL	ENST00000261844.7	37	c.2042delA	CCDS45263.1																																																																																				0.284	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		11	261						11	261	---	---	---	---
RP11-266O8.1	0	broad.mit.edu	37	15	93974511	93974513	+	lincRNA	DEL	TTT	TTT	-	rs57286078|rs534087513|rs552210225	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr15:93974511_93974513delTTT	ENST00000543286.1	+	0	545																											GGCTGGGTTCttttttttttttt	0.433																																						ENST00000543286.1																			0																																																			0							g.chr15:93974511_93974513delTTT																													15.37:g.93974520_93974522delTTT														0	545	+									RNA	DEL	ENST00000543286.1	37																																																																																						0.433	RP11-266O8.1-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000415156.1			9	71						9	71	---	---	---	---
PRRT2	112476	broad.mit.edu	37	16	29825016	29825016	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr16:29825016delC	ENST00000358758.7	+	2	924	c.641delC	c.(640-642)gccfs	p.A214fs	PRRT2_ENST00000567551.1_3'UTR|AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000300797.6_Frame_Shift_Del_p.A214fs|AC009133.14_ENST00000569981.1_RNA|PRRT2_ENST00000567659.1_Frame_Shift_Del_p.A214fs|PAGR1_ENST00000320330.6_5'Flank|PAGR1_ENST00000609618.1_5'Flank	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	214	Pro-rich.		A -> P. {ECO:0000269|PubMed:22101681}.	A -> AP (in Ref. 3; CAD38881). {ECO:0000305}.	neuromuscular process controlling posture (GO:0050884)|response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.R217fs*12(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						GCCAATGGGGCCCCCCCCCGA	0.652																																						ENST00000300797.6																			1	Deletion - Frameshift(1)	p.R217fs*12(1)	large_intestine(1)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(640-642)gcfs		proline-rich transmembrane protein 2				156,267,3649		3,1,149,6,254,1623	9.0	10.0	10.0			3.9	1.0	16		10	258,545,7149		8,2,240,21,501,3204	no	codingComplex	PRRT2	NM_145239.2		11,3,389,27,755,4827	A1A1,A1A2,A1R,A2A2,A2R,RR		10.0981,10.388,10.1963			29825016	414,812,10798	2137	4212	6349	SO:0001589	frameshift_variant	112476				response to biotic stimulus	integral to membrane		g.chr16:29825016delC	BC011405	CCDS10654.1, CCDS58445.1, CCDS58446.1	16p11.2	2014-02-03			ENSG00000167371	ENSG00000167371		"""Proline-rich transmembrane proteins"""	30500	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 1"""	614386	"""infantile convulsions and paroxysmal choreoathetosis"""	ICCA		22101681, 22243967	Standard	NM_145239		Approved	FLJ25513, DKFZp547J199, IFITMD1, FICCA	uc002dud.3	Q7Z6L0	OTTHUMG00000177142	ENST00000358758.7:c.641delC	16.37:g.29825016delC	ENSP00000351608:p.Ala214fs					PRRT2_ENST00000567659.1_Frame_Shift_Del_p.A214fs|PRRT2_ENST00000567551.1_3'UTR|PRRT2_ENST00000358758.7_Frame_Shift_Del_p.A214fs|AC009133.20_ENST00000569039.1_RNA	p.A214fs			Q7Z6L0	PRRT2_HUMAN			2	815	+			214	A -> AP (in Ref. 3; CAD38881).		Pro-rich.		A8K8M8|Q8N2N8|Q8NAQ7|Q8ND36|Q96FA8	Frame_Shift_Del	DEL	ENST00000358758.7	37	c.641delC	CCDS10654.1																																																																																				0.652	PRRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255161.3	NM_145239		7	107						7	107	---	---	---	---
SETD1A	9739	broad.mit.edu	37	16	30977566	30977567	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr16:30977566_30977567delAG	ENST00000262519.8	+	8	3050_3051	c.2364_2365delAG	c.(2362-2367)gcaggcfs	p.G789fs		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	789					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						TCCCGACAGCAGGCACCGTGGG	0.658																																						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.(2362-2367)gcgcfs		SET domain containing 1A																																				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.chr16:30977566_30977567delAG	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.2364_2365delAG	16.37:g.30977566_30977567delAG	ENSP00000262519:p.Gly789fs						p.AG788fs	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			8	3050_3051	+			788					A6NP62|Q6PIF3|Q8TAJ6	Frame_Shift_Del	DEL	ENST00000262519.8	37	c.2364_2365delAG	CCDS32435.1																																																																																				0.658	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		36	118						36	118	---	---	---	---
COQ9	57017	broad.mit.edu	37	16	57486732	57486734	+	In_Frame_Del	DEL	GAG	GAG	-	rs149029279		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr16:57486732_57486734delGAG	ENST00000262507.6	+	3	331_333	c.262_264delGAG	c.(262-264)gagdel	p.E91del	COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567072.1_In_Frame_Del_p.E91del|COQ9_ENST00000567933.1_In_Frame_Del_p.E91del	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	91					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CCAGGGCGGCGAGGAGGAGGAGG	0.576																																						ENST00000262507.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						c.(262-264)del		coenzyme Q9																																				SO:0001651	inframe_deletion	57017				ubiquinone biosynthetic process	mitochondrion		g.chr16:57486732_57486734delGAG	BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"""chromosome 16 open reading frame 49"", ""coenzyme Q9 homolog (yeast)"", ""coenzyme Q9 homolog (S. cerevisiae)"""	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.262_264delGAG	16.37:g.57486741_57486743delGAG	ENSP00000262507:p.Glu91del					COQ9_ENST00000567933.1_In_Frame_Del_p.E91del|COQ9_ENST00000567072.1_In_Frame_Del_p.E91del|COQ9_ENST00000567384.1_3'UTR	p.E91del	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN			3	331_333	+			91					A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	In_Frame_Del	DEL	ENST00000262507.6	37	c.262_264delGAG	CCDS32459.1																																																																																				0.576	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3	NM_020312		7	571						7	571	---	---	---	---
GAS7	8522	broad.mit.edu	37	17	9923188	9923189	+	Frame_Shift_Ins	INS	-	-	A	rs200563905		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:9923188_9923189insA	ENST00000432992.2	-	2	369_370	c.209_210insT	c.(208-210)ccgfs	p.P70fs	GAS7_ENST00000579158.1_Frame_Shift_Ins_p.P6fs|GAS7_ENST00000323816.4_Frame_Shift_Ins_p.P10fs|GAS7_ENST00000542249.1_Frame_Shift_Ins_p.P6fs|GAS7_ENST00000585266.1_Frame_Shift_Ins_p.P10fs|GAS7_ENST00000437099.2_Frame_Shift_Ins_p.P6fs|GAS7_ENST00000540214.1_Frame_Shift_Ins_p.P6fs|GAS7_ENST00000396115.2_Frame_Shift_Ins_p.P6fs|GAS7_ENST00000578655.1_5'UTR	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	70	Poly-Pro.				actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TTTCTTCTCCCGGCGGAGGGGG	0.54			T	MLL	AML*																																	ENST00000396115.1				Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						c.(28-30)cggfs		growth arrest-specific 7																																				SO:0001589	frameshift_variant	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9923188_9923189insA	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.209_210insT	17.37:g.9923188_9923189insA	ENSP00000407552:p.Pro70fs					GAS7_ENST00000579158.1_Frame_Shift_Ins_p.R22fs|GAS7_ENST00000542249.1_Frame_Shift_Ins_p.R15fs|GAS7_ENST00000585266.1_Frame_Shift_Ins_p.R6fs|GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000540214.1_Frame_Shift_Ins_p.R6fs|GAS7_ENST00000432992.2_Frame_Shift_Ins_p.R70fs|GAS7_ENST00000437099.2_Frame_Shift_Ins_p.R6fs|GAS7_ENST00000323816.4_Frame_Shift_Ins_p.R6fs	p.R10fs	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN			2	339_340	-			70			SH3.		A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Frame_Shift_Ins	INS	ENST00000432992.2	37	c.29_30insT	CCDS11152.1																																																																																				0.540	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		79	169						79	169	---	---	---	---
KRTAP9-9	81870	broad.mit.edu	37	17	39411670	39411671	+	In_Frame_Ins	INS	-	-	ACCTGCTGCAGGACC	rs67700678|rs540633489	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:39411670_39411671insACCTGCTGCAGGACC	ENST00000394008.1	+	1	35_36	c.33_34insACCTGCTGCAGGACC	c.(34-36)acc>ACCTGCTGCAGGACCacc	p.12_12T>TCCRTT		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	12	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)			GCTGTCAGCCTACCTGCTGCAG	0.604														2488	0.496805	0.298	0.647	5008	,	,		16406	0.4196		0.5805	False		,,,				2504	0.6524					ENST00000394008.1																			0				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(31-36)cccctg>ccACCTGCTGCAGGACCcctg		keratin associated protein 9-9																																				SO:0001652	inframe_insertion	81870					keratin filament		g.chr17:39411670_39411671insACCTGCTGCAGGACC	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.34_48dupACCTGCTGCAGGACC	17.37:g.39411670_39411671insACCTGCTGCAGGACC	Exception_encountered						p.10_11insPPAAG	NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	35_36	+		Breast(137;0.000496)	10					B5MDD6|Q9BYQ1	In_Frame_Ins	INS	ENST00000394008.1	37	c.33_34insACCTGCTGCAGGACC	CCDS54127.1																																																																																				0.604	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	NM_030975		17	286						17	286	---	---	---	---
SPAG9	9043	broad.mit.edu	37	17	49077041	49077041	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:49077041delT	ENST00000262013.7	-	14	1853	c.1645delA	c.(1645-1647)aggfs	p.R549fs	SPAG9_ENST00000357122.4_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000510283.1_Frame_Shift_Del_p.R392fs|SPAG9_ENST00000505279.1_Frame_Shift_Del_p.R535fs	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	549					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.R535fs*28(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			ATGCTTGACCTTTTTTTTTCC	0.323																																						ENST00000262013.7																			1	Deletion - Frameshift(1)	p.R535fs*28(1)	large_intestine(1)	NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(1645-1647)ggfs		sperm associated antigen 9							158.0	136.0	144.0					17																	49077041		2203	4300	6503	SO:0001589	frameshift_variant	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49077041delT	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.1645delA	17.37:g.49077041delT	ENSP00000262013:p.Arg549fs					SPAG9_ENST00000357122.4_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000505279.1_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000510283.1_Frame_Shift_Del_p.R392fs	p.R549fs	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		14	1853	-			549					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Frame_Shift_Del	DEL	ENST00000262013.7	37	c.1645delA	CCDS45740.1																																																																																				0.323	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		14	158						14	158	---	---	---	---
TEX2	55852	broad.mit.edu	37	17	62291438	62291440	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:62291438_62291440delTCC	ENST00000583097.1	-	2	310_312	c.138_140delGGA	c.(136-141)gaggaa>gaa	p.46_47EE>E	TEX2_ENST00000584379.1_In_Frame_Del_p.46_47EE>E|TEX2_ENST00000258991.3_In_Frame_Del_p.46_47EE>E			Q8IWB9	TEX2_HUMAN	testis expressed 2	46	Poly-Glu.				signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		ctcctcctcttcctcctcctcct	0.552																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(136-141)gaa>ga		testis expressed 2																																				SO:0001651	inframe_deletion	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62291438_62291440delTCC	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.138_140delGGA	17.37:g.62291447_62291449delTCC	ENSP00000462665:p.Glu51del					TEX2_ENST00000584379.1_In_Frame_Del_p.EE50del|TEX2_ENST00000583097.1_In_Frame_Del_p.EE50del	p.EE50del			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	222_224	-			50			Poly-Glu.		Q6AHZ5|Q8N3L0|Q9C0C5	In_Frame_Del	DEL	ENST00000583097.1	37	c.138_140delGGA																																																																																					0.552	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		8	379						8	379	---	---	---	---
TNRC6C	57690	broad.mit.edu	37	17	76046980	76046980	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:76046980delA	ENST00000588061.1	+	5	2564	c.1837delA	c.(1837-1839)aaafs	p.K614fs	TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000335749.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	614	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGGGGATGGGAAAAAAAATGG	0.522																																						ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(1837-1839)aafs		trinucleotide repeat containing 6C			,	8,3764		1,6,1879	77.0	78.0	78.0		,	-0.2	0.8	17	dbSNP_130	79	42,7894		10,22,3936	no	frameshift,frameshift	TNRC6C	NM_018996.3,NM_001142640.1	,	11,28,5815	A1A1,A1R,RR		0.5292,0.2121,0.4271	,	,	76046980	50,11658	1966	4142	6108	SO:0001589	frameshift_variant	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76046980delA	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1837delA	17.37:g.76046980delA	ENSP00000468647:p.Lys614fs					TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.K614fs	p.K614fs	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		3	2406	+			614			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Frame_Shift_Del	DEL	ENST00000588061.1	37	c.1837delA	CCDS45798.1																																																																																				0.522	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		8	490						8	490	---	---	---	---
OR7E24	26648	broad.mit.edu	37	19	9361741	9361741	+	Frame_Shift_Del	DEL	T	T	-	rs201985790		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:9361741delT	ENST00000456448.1	+	1	136	c.22delT	c.(22-24)tttfs	p.F11fs		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TCCAATTCTCTTTTTTTTTTT	0.388																																						ENST00000456448.1																			0				endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						c.(22-24)ttfs		olfactory receptor, family 7, subfamily E, member 24							49.0	50.0	50.0					19																	9361741		1897	4135	6032	SO:0001589	frameshift_variant	26648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9361741delT	Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"""GPCR / Class A : Olfactory receptors"""	8396	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily E, member 24 pseudogene"""	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.22delT	19.37:g.9361741delT	ENSP00000387523:p.Phe11fs						p.F11fs	NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN			1	136	+			11					B9EJD9|Q9UPJ1	Frame_Shift_Del	DEL	ENST00000456448.1	37	c.22delT	CCDS45955.1																																																																																				0.388	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1			8	48						8	48	---	---	---	---
HAUS8	93323	broad.mit.edu	37	19	17160706	17160707	+	Frame_Shift_Del	DEL	GA	GA	-	rs532006952		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:17160706_17160707delGA	ENST00000253669.5	-	11	1399_1400	c.1209_1210delTC	c.(1207-1212)tctcgtfs	p.R404fs	HAUS8_ENST00000448593.2_Frame_Shift_Del_p.R403fs|CTD-2528A14.3_ENST00000598893.1_RNA|HAUS8_ENST00000593360.1_Frame_Shift_Del_p.R343fs			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	404					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CTCCCTGAACGAGAGAGAGAGG	0.495																																						ENST00000593360.1																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						c.(1024-1029)tcgtfs		HAUS augmin-like complex, subunit 8																																				SO:0001589	frameshift_variant	93323				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr19:17160706_17160707delGA	BC004398	CCDS32948.1, CCDS46009.1	19p13.11	2013-10-11	2009-04-20	2009-04-20	ENSG00000131351	ENSG00000131351		"""HAUS augmin-like complex subunits"""	30532	protein-coding gene	gene with protein product		613434	"""HEC1/NDC80 interacting, centrosome associated 1"""	HICE1		19427217	Standard	XM_005260154		Approved	MGC20533, NY-SAR-48	uc002nfe.3	Q9BT25		ENST00000253669.5:c.1209_1210delTC	19.37:g.17160714_17160715delGA	ENSP00000253669:p.Arg404fs					HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs|HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs	p.SR342fs			Q9BT25	HAUS8_HUMAN			10	3044_3045	-			403					B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Frame_Shift_Del	DEL	ENST00000253669.5	37	c.1026_1027delTC	CCDS32948.1																																																																																				0.495	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463015.1	NM_001011699		11	933						11	933	---	---	---	---
CTC-260E6.6	0	broad.mit.edu	37	19	20243404	20243405	+	RNA	DEL	AC	AC	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:20243404_20243405delAC	ENST00000590606.1	-	0	188				CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA																							TCCCTGGAAAACACACACACAC	0.411																																						ENST00000590606.1																			0																																																			0							g.chr19:20243404_20243405delAC																													19.37:g.20243414_20243415delAC						CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA								0	188	-									RNA	DEL	ENST00000590606.1	37																																																																																						0.411	CTC-260E6.6-005	KNOWN	basic	antisense	antisense	OTTHUMT00000452859.1			16	350						16	350	---	---	---	---
ERF	2077	broad.mit.edu	37	19	42753149	42753151	+	In_Frame_Del	DEL	GAA	GAA	-	rs199960550		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:42753149_42753151delGAA	ENST00000222329.4	-	4	1270_1272	c.1113_1115delTTC	c.(1111-1116)tcttcc>tcc	p.371_372SS>S	ERF_ENST00000440177.2_In_Frame_Del_p.296_297SS>S|ERF_ENST00000595941.1_5'Flank|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	371	Poly-Ser.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GAATGGGGAGGAAGAAGAAGAAG	0.68																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1111-1116)tcc>tc		Ets2 repressor factor				95,3823		27,41,1891						-1.6	0.9			39	51,7895		7,37,3929	no	coding	ERF	NM_006494.2		34,78,5820	A1A1,A1R,RR		0.6418,2.4247,1.2306				146,11718				SO:0001651	inframe_deletion	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753149_42753151delGAA	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1113_1115delTTC	19.37:g.42753158_42753160delGAA	ENSP00000222329:p.Ser373del					ERF_ENST00000440177.2_In_Frame_Del_p.SS296del|AC006486.9_ENST00000594664.1_Intron	p.SS371del	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1270_1272	-		Prostate(69;0.00682)	371			Poly-Ser.		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	In_Frame_Del	DEL	ENST00000222329.4	37	c.1113_1115delTTC	CCDS12600.1																																																																																				0.680	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		8	577						8	577	---	---	---	---
LILRB1	10859	broad.mit.edu	37	19	55146148	55146150	+	In_Frame_Del	DEL	CTC	CTC	-	rs543059448	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:55146148_55146150delCTC	ENST00000396331.1	+	11	1774_1776	c.1417_1419delCTC	c.(1417-1419)ctcdel	p.L479del	LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	479					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)		CAtcctactgctcctcctcctcc	0.581										HNSCC(37;0.09)				8	0.00159744	0.0023	0.0014	5008	,	,		18237	0.002		0.001	False		,,,				2504	0.001					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.(1417-1419)del		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1			,,,	21,4241		0,21,2110					,,,	0.7	0.0			137	49,8205		0,49,4078	no	coding,coding,coding,coding	LILRB1	NM_006669.3,NM_001081639.1,NM_001081638.1,NM_001081637.1	,,,	0,70,6188	A1A1,A1R,RR		0.5937,0.4927,0.5593	,,,	,,,		70,12446				SO:0001651	inframe_deletion	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55146148_55146150delCTC	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.1417_1419delCTC	19.37:g.55146157_55146159delCTC	ENSP00000379622:p.Leu479del	HNSCC(37;0.09)				LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del	p.L479del	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	11	1774_1776	+			479					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	In_Frame_Del	DEL	ENST00000396331.1	37	c.1417_1419delCTC	CCDS42617.1																																																																																				0.581	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			11	232						11	232	---	---	---	---
KIZ-AS1	101929591	broad.mit.edu	37	20	21142454	21142455	+	RNA	INS	-	-	C	rs556051843|rs45603533|rs11482592|rs73133315	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr20:21142454_21142455insC	ENST00000591761.1	-	0	5142				PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA																							AAAAAAAAAAACCCCACCTAAT	0.376													|||unknown(HR)	2735	0.546126	0.2625	0.5648	5008	,	,		17164	0.5595		0.6471	False		,,,				2504	0.7986					ENST00000591761.1																			0																																																			0							g.chr20:21142454_21142455insC																													20.37:g.21142458_21142458dupC						PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA								0	5142	-									RNA	INS	ENST00000591761.1	37																																																																																						0.376	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			27	46						27	46	---	---	---	---
FOXA2	3170	broad.mit.edu	37	20	22562673	22562675	+	In_Frame_Del	DEL	GTT	GTT	-	rs1212275|rs369254349|rs553430638	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr20:22562673_22562675delGTT	ENST00000377115.4	-	3	1368_1370	c.1187_1189delAAC	c.(1186-1191)caaccc>ccc	p.Q396del	FOXA2_ENST00000419308.2_In_Frame_Del_p.Q402del	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	396	Transactivation domain 2. {ECO:0000250}.				adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					ATTTTGTGGGGTtggtggtggtg	0.601																																						ENST00000419308.2																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22						c.(1186-1191)ccc>c		forkhead box A2																																				SO:0001651	inframe_deletion	3170				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region 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	g.chr20:22562673_22562675delGTT	AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"""Forkhead boxes"""	5022	protein-coding gene	gene with protein product		600288	"""hepatocyte nuclear factor 3, beta"""	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.1187_1189delAAC	20.37:g.22562673_22562675delGTT	ENSP00000366319:p.Gln396del					FOXA2_ENST00000319993.4_In_Frame_Del_p.QP402del|FOXA2_ENST00000377115.4_In_Frame_Del_p.QP396del	p.QP396del	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN			2	1389_1391	-	Lung NSC(19;0.188)		396			Transactivation domain 2 (By similarity).		Q8WUW4|Q96DF7	In_Frame_Del	DEL	ENST00000377115.4	37	c.1187_1189delAAC	CCDS13147.1																																																																																				0.601	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			7	428						7	428	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29625899	29625900	+	Frame_Shift_Ins	INS	-	-	AT	rs201509828		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr20:29625899_29625900insAT	ENST00000278882.3	+	5	523_524	c.143_144insAT	c.(142-147)aaatatfs	p.KY48fs	FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.KY48fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.KY53fs			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	48										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTATGGAAAATATCTTGGTA	0.342																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(142-144)atafs																																						SO:0001589	frameshift_variant	0							g.chr20:29625899_29625900insAT			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.146_147dupAT	20.37:g.29625902_29625903dupAT	ENSP00000278882:p.Lys48fs					FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs	p.I48fs							5	523_524	+								C4AME5	Frame_Shift_Ins	INS	ENST00000278882.3	37	c.143_144insAT																																																																																					0.342	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		15	515						15	515	---	---	---	---
DDX27	55661	broad.mit.edu	37	20	47858504	47858504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr20:47858504delA	ENST00000371764.4	+	17	2074	c.2065delA	c.(2065-2067)aaafs	p.K691fs	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000469991.1_Intron|DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	691						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.K691fs*4(3)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAAGGATGCCAAAAAAAAGGG	0.488																																						ENST00000371764.4																			3	Deletion - Frameshift(3)	p.K691fs*4(3)	large_intestine(2)|ovary(1)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(2065-2067)aafs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							67.0	72.0	70.0					20																	47858504		2203	4300	6503	SO:0001589	frameshift_variant	55661					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr20:47858504delA	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.2065delA	20.37:g.47858504delA	ENSP00000360828:p.Lys691fs					ZNFX1_ENST00000371754.4_Intron|DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000469991.1_Intron	p.K691fs	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		17	2074	+			691					A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Frame_Shift_Del	DEL	ENST00000371764.4	37	c.2065delA	CCDS13416.1																																																																																				0.488	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			8	407						8	407	---	---	---	---
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr20:56099187delT	ENST00000608263.1	-	1	736	c.75delA	c.(73-75)aaafs	p.K25fs	CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000608425.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608158.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000481655.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000423479.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608440.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000609232.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	25					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502																																						ENST00000426658.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(73-75)aafs		CCCTC-binding factor (zinc finger protein)-like							231.0	258.0	249.0					20																	56099187		2203	4300	6503	SO:0001589	frameshift_variant	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56099187delT		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.75delA	20.37:g.56099187delT	ENSP00000476783:p.Lys25fs					CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron	p.K25fs			Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		1	736	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		25					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Frame_Shift_Del	DEL	ENST00000608263.1	37	c.75delA	CCDS13459.1																																																																																				0.502	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		11	1357						11	1357	---	---	---	---
ANKRD20A11P	391267	broad.mit.edu	37	21	15343608	15343609	+	RNA	INS	-	-	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr21:15343608_15343609insA	ENST00000344693.5	-	0	736				RNU6-954P_ENST00000411355.1_RNA	NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		TAAAACAGCAGAAAAAATTAAT	0.272																																						ENST00000344693.5																			0																																																			0							g.chr21:15343608_15343609insA			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15343614_15343614dupA								NR_027270.1						0	736	-									RNA	INS	ENST00000344693.5	37																																																																																						0.272	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			13	408						13	408	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36689419	36689421	+	In_Frame_Del	DEL	CCT	CCT	-	rs375955867		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr22:36689419_36689421delCCT	ENST00000216181.5	-	30	4279_4281	c.4049_4051delAGG	c.(4048-4053)gaggcc>gcc	p.E1350del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1350				E -> EE (in Ref. 11). {ECO:0000305}.	actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTGTGCTTGGCCTCCTCCTCCTC	0.65			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(4048-4053)gcc>g		myosin, heavy chain 9, non-muscle																																				SO:0001651	inframe_deletion	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36689419_36689421delCCT		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4049_4051delAGG	22.37:g.36689428_36689430delCCT	ENSP00000216181:p.Glu1350del						p.EA1350del	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			30	4279_4281	-			1350	E -> EE (in Ref. 7).				A8K6E4|O60805|Q60FE2|Q86T83	In_Frame_Del	DEL	ENST00000216181.5	37	c.4049_4051delAGG	CCDS13927.1																																																																																				0.650	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		7	334						7	334	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36696948	36696950	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr22:36696948_36696950delCTC	ENST00000216181.5	-	22	3015_3017	c.2785_2787delGAG	c.(2785-2787)gagdel	p.E929del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	929					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTGGCAGCGCTCCTCCTCCTCC	0.665			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(2785-2787)del		myosin, heavy chain 9, non-muscle																																				SO:0001651	inframe_deletion	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36696948_36696950delCTC		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2785_2787delGAG	22.37:g.36696957_36696959delCTC	ENSP00000216181:p.Glu929del						p.E929del	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			22	3015_3017	-			929					A8K6E4|O60805|Q60FE2|Q86T83	In_Frame_Del	DEL	ENST00000216181.5	37	c.2785_2787delGAG	CCDS13927.1																																																																																				0.665	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		7	490						7	490	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610573	42610575	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr22:42610573_42610575delAGG	ENST00000359486.3	-	1	873_875	c.737_739delCCT	c.(736-741)tccttc>ttc	p.S246del	TCF20_ENST00000335626.4_In_Frame_Del_p.S246del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	246	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTGAAGGGAaggaggaggagga	0.507																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(736-741)ttc>t		transcription factor 20 (AR1)																																				SO:0001651	inframe_deletion	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610573_42610575delAGG	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.737_739delCCT	22.37:g.42610582_42610584delAGG	ENSP00000352463:p.Ser246del					TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del	p.SF246del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	873_875	-			246			Ser-rich.		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	In_Frame_Del	DEL	ENST00000359486.3	37	c.737_739delCCT	CCDS14033.1																																																																																				0.507	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		7	361						7	361	---	---	---	---
CNKSR2	22866	broad.mit.edu	37	X	21627678	21627680	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:21627678_21627680delGAG	ENST00000379510.3	+	20	2671_2673	c.2635_2637delGAG	c.(2635-2637)gagdel	p.E886del	CNKSR2_ENST00000425654.2_In_Frame_Del_p.E856del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	886	Poly-Glu.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ggtggaggaagaggaggaggagg	0.517																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2545-2547)del		connector enhancer of kinase suppressor of Ras 2																																				SO:0001651	inframe_deletion	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627678_21627680delGAG	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2635_2637delGAG	X.37:g.21627687_21627689delGAG	ENSP00000368824:p.Glu886del					CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del	p.E856del	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			19	3025_3027	+			886					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	In_Frame_Del	DEL	ENST00000379510.3	37	c.2545_2547delGAG	CCDS14198.1																																																																																				0.517	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		11	162						11	162	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48209463	48209463	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:48209463delG	ENST00000298396.2	-	6	477	c.425delC	c.(424-426)ccgfs	p.P142fs	SSX3_ENST00000376893.3_Frame_Shift_Del_p.P142fs|SSX3_ENST00000376895.1_Frame_Shift_Del_p.P54fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.P142Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						TGGTTTTCCCGGGGGGCACAG	0.493																																					Colon(37;227 826 19399 40970 48007)	ENST00000298396.2																			2	Substitution - Missense(2)	p.P142Q(2)	lung(2)	endometrium(3)|large_intestine(1)|lung(9)	13						c.(424-426)cgfs		synovial sarcoma, X breakpoint 3							229.0	213.0	219.0					X																	48209463		2203	4300	6503	SO:0001589	frameshift_variant	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48209463delG	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.425delC	X.37:g.48209463delG	ENSP00000298396:p.Pro142fs					SSX3_ENST00000376895.1_Frame_Shift_Del_p.P54fs|SSX3_ENST00000376893.3_Frame_Shift_Del_p.P142fs	p.P142fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN			6	477	-			142					O60223|Q5JQZ3|Q9BRW7	Frame_Shift_Del	DEL	ENST00000298396.2	37	c.425delC	CCDS14291.1																																																																																				0.493	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		7	1316						7	1316	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76778785	76778787	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:76778785_76778787delTCT	ENST00000373344.5	-	31	7006_7008	c.6792_6794delAGA	c.(6790-6795)gaagag>gag	p.2264_2265EE>E	ATRX_ENST00000395603.3_In_Frame_Del_p.2226_2227EE>E|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2264	Interaction with MECP2.|Poly-Glu.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTCAGTCAACTCTTCTTCTTCTT	0.369			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		0				bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(6790-6795)gag>ga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001651	inframe_deletion	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76778785_76778787delTCT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6792_6794delAGA	X.37:g.76778794_76778796delTCT	ENSP00000362441:p.Glu2265del					ATRX_ENST00000395603.3_In_Frame_Del_p.EE2226del|ATRX_ENST00000480283.1_5'UTR	p.EE2264del	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			31	7006_7008	-			2264			Poly-Glu.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	In_Frame_Del	DEL	ENST00000373344.5	37	c.6792_6794delAGA	CCDS14434.1																																																																																				0.369	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		7	1070						7	1070	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140994639	140994641	+	In_Frame_Del	DEL	CTC	CTC	-	rs372076984|rs144357389		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:140994639_140994641delCTC	ENST00000285879.4	+	4	1735_1737	c.1449_1451delCTC	c.(1447-1452)agctcc>agc	p.483_484SS>S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	483										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCTCCTCCTCCTCC	0.473										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1447-1452)agc>ag		melanoma antigen family C, 1																																				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994639_140994641delCTC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1449_1451delCTC	X.37:g.140994648_140994650delCTC	ENSP00000285879:p.Ser489del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.SS487del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1735_1737	+	Acute lymphoblastic leukemia(192;6.56e-05)		487					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.1449_1451delCTC	CCDS35417.1																																																																																				0.473	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		9	1182						9	1182	---	---	---	---
MAMLD1	10046	broad.mit.edu	37	X	149639325	149639327	+	In_Frame_Del	DEL	CAG	CAG	-	rs374739932|rs374561693		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:149639325_149639327delCAG	ENST00000370401.2	+	4	1790_1792	c.1480_1482delCAG	c.(1480-1482)cagdel	p.Q502del	MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	502	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532																																						ENST00000370401.2																			3	Substitution - coding silent(3)	p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)	kidney(3)	breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1480-1482)del		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639325_149639327delCAG	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1480_1482delCAG	X.37:g.149639334_149639336delCAG	ENSP00000359428:p.Gln502del					MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del	p.Q502del			Q13495	MAMD1_HUMAN			4	1790_1792	+	Acute lymphoblastic leukemia(192;6.56e-05)		502			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1480_1482delCAG	CCDS14693.2																																																																																				0.532	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		7	252						7	252	---	---	---	---
MAMLD1	10046	broad.mit.edu	37	X	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:149639633_149639635delGCA	ENST00000370401.2	+	4	2098_2100	c.1788_1790delGCA	c.(1786-1791)ctgcag>ctg	p.Q606del	MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.Q87del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q606del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	606	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1786-1791)ctg>ct		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639633_149639635delGCA	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1788_1790delGCA	X.37:g.149639642_149639644delGCA	ENSP00000359428:p.Gln606del					MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del	p.LQ596del			Q13495	MAMD1_HUMAN			4	2098_2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		596			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1788_1790delGCA	CCDS14693.2																																																																																				0.611	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		8	407						8	407	---	---	---	---
CD99L2	83692	broad.mit.edu	37	X	149937526	149937528	+	In_Frame_Del	DEL	GGC	GGC	-	rs7877654	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:149937526_149937528delGGC	ENST00000370377.3	-	11	885_887	c.768_770delGCC	c.(766-771)ccgccc>ccc	p.256_257PP>P	CD99L2_ENST00000355149.3_In_Frame_Del_p.184_185PP>P|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.183_184PP>P|CD99L2_ENST00000466436.1_In_Frame_Del_p.207_208PP>P	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	256	Poly-Pro.				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)					GGCTGGTTCGGGCGGCGGCGGCG	0.611																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(766-771)ccc>cc		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149937526_149937528delGGC	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.768_770delGCC	X.37:g.149937535_149937537delGGC	ENSP00000359403:p.Pro257del					CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000346693.4_5'UTR	p.PP256del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			11	885_887	-	Acute lymphoblastic leukemia(192;6.56e-05)		256			Poly-Pro.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.768_770delGCC	CCDS35427.1																																																																																				0.611	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		7	1050						7	1050	---	---	---	---
MAGEA10	4109	broad.mit.edu	37	X	151303906	151303908	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:151303906_151303908delAGG	ENST00000370323.4	-	4	501_503	c.185_187delCCT	c.(184-189)tcctgc>tgc	p.S62del	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.S62del	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	62	Poly-Ser.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGATAGCaggaggaggagga	0.562																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(184-189)tgc>t		melanoma antigen family A, 10																																				SO:0001651	inframe_deletion	4109							g.chrX:151303906_151303908delAGG		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.185_187delCCT	X.37:g.151303915_151303917delAGG	ENSP00000359347:p.Ser62del					RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del	p.SC62del	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	501_503	-	Acute lymphoblastic leukemia(192;6.56e-05)		62			Poly-Ser.			In_Frame_Del	DEL	ENST00000370323.4	37	c.185_187delCCT	CCDS14705.1																																																																																				0.562	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		9	438						9	438	---	---	---	---
ZNF185	7739	broad.mit.edu	37	X	152087570	152087572	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:152087570_152087572delGAG	ENST00000370268.4	+	7	512_514	c.475_477delGAG	c.(475-477)gagdel	p.E165del	ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000535861.1_In_Frame_Del_p.E165del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000370270.2_In_Frame_Del_p.E165del			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	165	Poly-Glu.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGACACCgaggaggaggagg	0.596																																						ENST00000535861.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12						c.(475-477)del		zinc finger protein 185 (LIM domain)			,,,,,,	160,3115		6,91,57,1273,478					,,,,,,	-7.0	0.0			54	367,5848		0,178,189,2088,1494	no	coding,coding,coding,coding,coding,coding,coding	ZNF185	NM_007150.3,NM_001178113.1,NM_001178110.1,NM_001178109.1,NM_001178108.1,NM_001178107.1,NM_001178106.1	,,,,,,	6,269,246,3361,1972	A1A1,A1R,A1,RR,R		5.9051,4.8855,5.5532	,,,,,,	,,,,,,		527,8963				SO:0001651	inframe_deletion	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152087570_152087572delGAG	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"""Zinc fingers, C2H2-type"""	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.475_477delGAG	X.37:g.152087579_152087581delGAG	ENSP00000359291:p.Glu165del					ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del|ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del	p.E165del	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN			7	523_525	+	Acute lymphoblastic leukemia(192;6.56e-05)		165			Poly-Glu.		A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	In_Frame_Del	DEL	ENST00000370268.4	37	c.475_477delGAG	CCDS48184.1																																																																																				0.596	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		8	164						8	164	---	---	---	---
RNA5-8SP6	100873336	broad.mit.edu	37	Y	10037863	10037863	+	RNA	DEL	C	C	-	rs373540942		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrY:10037863delC	ENST00000515896.1	+	0	100									RNA, 5.8S ribosomal pseudogene 6																		ATCGACACTTCGAACGCACTT	0.552																																						ENST00000515896.1																			0																																																			0							g.chrY:10037863delC			Yp11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000251705	ENSG00000251705			41960	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 6"""	RN5-8S6			Standard	NG_033474		Approved						Y.37:g.10037863delC														0	100	+									RNA	DEL	ENST00000515896.1	37																																																																																						0.552	RNA5-8SP6-201	KNOWN	basic	rRNA	rRNA				8	29						8	29	---	---	---	---
