#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
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		11	467	0	0	0	1	0	11	467				
TFCP2L1	29842	broad.mit.edu	37	2	122038752	122038752	+	Missense_Mutation	SNP	G	G	A	rs12614667		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:122038752G>A	ENST00000263707.5	-	2	255	c.158C>T	c.(157-159)gCt>gTt	p.A53V		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	53					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GGACGTGGCAGCACACAACAC	0.622																																						ENST00000263707.5																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22						c.(157-159)gCt>gTt		transcription factor CP2-like 1							88.0	95.0	92.0					2																	122038752		2203	4300	6503	SO:0001583	missense	29842				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:122038752G>A	AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.158C>T	2.37:g.122038752G>A	ENSP00000263707:p.Ala53Val						p.A53V	NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN			2	255	-	Renal(3;0.01)		53					Q4ZG43	Missense_Mutation	SNP	ENST00000263707.5	37	c.158C>T	CCDS2134.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.510021	0.85282	.	.	ENSG00000115112	ENST00000263707	T	0.35973	1.28	5.2	5.2	0.72013	CP2 transcription factor (1);	0.055944	0.64402	D	0.000001	T	0.63965	0.2556	M	0.92268	3.29	0.80722	D	1	P;P	0.48089	0.767;0.905	P;P	0.52823	0.67;0.71	T	0.74925	-0.3498	10	0.87932	D	0	.	18.7572	0.91837	0.0:0.0:1.0:0.0	.	53;53	Q5JV87;Q9NZI6	.;TF2L1_HUMAN	V	53	ENSP00000263707:A53V	ENSP00000263707:A53V	A	-	2	0	TFCP2L1	121755222	1.000000	0.71417	0.937000	0.37676	0.371000	0.29859	9.869000	0.99810	2.429000	0.82318	0.655000	0.94253	GCT		0.622	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1	NM_014553		6	574	0	0	0	1	0	6	574				
FAM167A	83648	broad.mit.edu	37	8	11301851	11301851	+	Missense_Mutation	SNP	C	C	T	rs146121515		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr8:11301851C>T	ENST00000528897.1	-	2	689	c.70G>A	c.(70-72)Gat>Aat	p.D24N	FAM167A_ENST00000284486.4_Missense_Mutation_p.D24N|FAM167A_ENST00000534308.1_Missense_Mutation_p.D24N|FAM167A_ENST00000531564.1_5'Flank			Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A	24										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						AGGTGGTCATCGGGTGGTGCG	0.647																																						ENST00000284486.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						c.(70-72)Gat>Aat		family with sequence similarity 167, member A		C	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	73.0	84.0	80.0		70	4.5	0.2	8	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FAM167A	NM_053279.2	23	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	24/215	11301851	2,13004	2203	4300	6503	SO:0001583	missense	83648							g.chr8:11301851C>T		CCDS5981.1	8p23-p22	2010-08-27	2008-06-11	2008-06-11	ENSG00000154319	ENSG00000154319			15549	protein-coding gene	gene with protein product		610085	"""chromosome 8 open reading frame 13"""	C8orf13			Standard	NM_053279		Approved		uc003wtw.2	Q96KS9	OTTHUMG00000129361	ENST00000528897.1:c.70G>A	8.37:g.11301851C>T	ENSP00000436655:p.Asp24Asn					FAM167A_ENST00000528897.1_Missense_Mutation_p.D24N|FAM167A_ENST00000534308.1_Missense_Mutation_p.D24N	p.D24N	NM_053279.2	NP_444509.2	Q96KS9	F167A_HUMAN			2	608	-			24					A8K3T9|Q3SXY1|Q3SXY3|Q8N3M3|Q9NSR0	Missense_Mutation	SNP	ENST00000528897.1	37	c.70G>A	CCDS5981.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656138	0.88056	2.27E-4	1.16E-4	ENSG00000154319	ENST00000284486;ENST00000534308;ENST00000528897;ENST00000531804	T;T;T;T	0.08634	3.07;3.07;3.07;3.07	5.34	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.11495	0.0280	M	0.64997	1.995	0.58432	D	0.999995	D	0.62365	0.991	B	0.41174	0.349	T	0.03717	-1.1010	10	0.72032	D	0.01	-31.7921	13.2042	0.59787	0.0:0.9239:0.0:0.0761	.	24	Q96KS9	F167A_HUMAN	N	24	ENSP00000284486:D24N;ENSP00000432232:D24N;ENSP00000436655:D24N;ENSP00000431951:D24N	ENSP00000284486:D24N	D	-	1	0	FAM167A	11339261	1.000000	0.71417	0.187000	0.23214	0.104000	0.19210	5.466000	0.66731	1.499000	0.48617	-0.136000	0.14681	GAT		0.647	FAM167A-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000383901.1			188	752	0	0	0	1	0	188	752				
SCN8A	6334	broad.mit.edu	37	12	52145205	52145205	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr12:52145205G>A	ENST00000354534.6	+	14	2376	c.2198G>A	c.(2197-2199)tGg>tAg	p.W733*	SCN8A_ENST00000545061.1_Nonsense_Mutation_p.W733*|SCN8A_ENST00000550891.1_Nonsense_Mutation_p.W733*	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	733					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TTCCTCATCTGGGAGTGCCAC	0.443																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(2197-2199)tGg>tAg		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						190.0	176.0	181.0					12																	52145205		1914	4130	6044	SO:0001587	stop_gained	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52145205G>A	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2198G>A	12.37:g.52145205G>A	ENSP00000346534:p.Trp733*					SCN8A_ENST00000545061.1_Nonsense_Mutation_p.W733*|SCN8A_ENST00000550891.1_Nonsense_Mutation_p.W733*	p.W733*	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	14	2376	+			733					B9VWG8|O95788|Q9NYX2|Q9UPB2	Nonsense_Mutation	SNP	ENST00000354534.6	37	c.2198G>A	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	40	7.924604	0.98563	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	.	.	.	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.667	0.91493	0.0:0.0:1.0:0.0	.	.	.	.	X	733;733;733;733;646	.	ENSP00000346534:W733X	W	+	2	0	SCN8A	50431472	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.727000	0.93392	0.650000	0.86243	TGG		0.443	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		29	661	0	0	0	1	0	29	661				
LOC645752	645752	broad.mit.edu	37	15	78211512	78211512	+	lincRNA	SNP	C	C	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr15:78211512C>A	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							GTTCCTTGCTCAGGACACTCA	0.557																																						ENST00000565869.1																			0																																																			0							g.chr15:78211512C>A																													15.37:g.78211512C>A						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.557	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			6	592	1	0	0.0581538	1	0.0586153	6	592				
ZAN	7455	broad.mit.edu	37	7	100350550	100350550	+	RNA	SNP	T	T	C			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr7:100350550T>C	ENST00000348028.3	+	0	2987				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L941P(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACAGAAAAACTCACCATCCCC	0.517																																						ENST00000542585.1																			1	Substitution - Missense(1)	p.L941P(1)	prostate(1)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							260.0	315.0	297.0					7																	100350550		1856	4091	5947			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350550T>C	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350550T>C						ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2970	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	C	0.203	-1.042681	0.01997	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.58506	0.33;0.33;0.33	2.62	0.819	0.18785	.	.	.	.	.	T	0.28234	0.0697	N	0.01576	-0.805	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20571	-1.0271	9	0.34782	T	0.22	.	10.5034	0.44819	0.0:0.8802:0.0:0.1198	.	941;941	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	941	ENSP00000445943:L941P;ENSP00000445091:L941P;ENSP00000444427:L941P	ENSP00000423579:L941P	L	+	2	0	ZAN	100188486	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-1.679000	0.01940	0.215000	0.20761	-0.721000	0.03606	CTC		0.517	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		6	766	0	0	0	1	0	6	766				
UNC13C	440279	broad.mit.edu	37	15	54305604	54305604	+	Silent	SNP	C	C	T	rs201832839		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr15:54305604C>T	ENST00000260323.11	+	1	504	c.504C>T	c.(502-504)gaC>gaT	p.D168D	UNC13C_ENST00000545554.1_Silent_p.D168D|UNC13C_ENST00000537900.1_Silent_p.D168D	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	168					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GCAGCTCTGACGGGGAGCGTA	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		21338	0.0		0.001	False		,,,				2504	0.0					ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(502-504)gaC>gaT		unc-13 homolog C (C. elegans)		C		0,3940		0,0,1970	108.0	107.0	107.0		504	-1.5	1.0	15		107	2,8286		0,2,4142	no	coding-synonymous	UNC13C	NM_001080534.1		0,2,6112	TT,TC,CC		0.0241,0.0,0.0164		168/2215	54305604	2,12226	1970	4144	6114	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54305604C>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.504C>T	15.37:g.54305604C>T						UNC13C_ENST00000537900.1_Silent_p.D168D|UNC13C_ENST00000260323.11_Silent_p.D168D	p.D168D			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	504	+			168					Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.504C>T	CCDS45264.1																																																																																				0.473	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		6	510	0	0	0	1	0	6	510				
DRD5	1816	broad.mit.edu	37	4	9783962	9783962	+	Silent	SNP	G	G	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:9783962G>T	ENST00000304374.2	+	1	705	c.309G>T	c.(307-309)gtG>gtT	p.V103V		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	103					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.V103V(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TCGCCGAGGTGGCCGGTTACT	0.612																																						ENST00000304374.2																			1	Substitution - coding silent(1)	p.V103V(1)	kidney(1)	NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(307-309)gtG>gtT		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						51.0	49.0	49.0					4																	9783962		2203	4300	6503	SO:0001819	synonymous_variant	0				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9783962G>T	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.309G>T	4.37:g.9783962G>T							p.V103V	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	705	+			103					B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	c.309G>T	CCDS3405.1																																																																																				0.612	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			6	233	1	0	9.31168e-06	1	9.69331e-06	6	233				
CX3CL1	6376	broad.mit.edu	37	16	57413650	57413650	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr16:57413650G>A	ENST00000006053.6	+	2	286	c.175G>A	c.(175-177)Ggc>Agc	p.G59S	CX3CL1_ENST00000563383.1_Missense_Mutation_p.G65S|CX3CL1_ENST00000564948.1_Intron|CX3CL1_ENST00000565912.1_Missense_Mutation_p.G21S	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	59	Chemokine.				angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)	p.G59C(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGCATCATGCGGCAAACGCGC	0.512																																						ENST00000565912.1																			1	Substitution - Missense(1)	p.G59C(1)	lung(1)	breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(61-63)Ggc>Agc		chemokine (C-X3-C motif) ligand 1							172.0	132.0	145.0					16																	57413650		2198	4300	6498	SO:0001583	missense	6376				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity	g.chr16:57413650G>A	U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"""Endogenous ligands"""	10647	protein-coding gene	gene with protein product		601880	"""small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"""	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.175G>A	16.37:g.57413650G>A	ENSP00000006053:p.Gly59Ser					CX3CL1_ENST00000564948.1_Intron|CX3CL1_ENST00000563383.1_Missense_Mutation_p.G65S|CX3CL1_ENST00000006053.6_Missense_Mutation_p.G59S	p.G21S			P78423	X3CL1_HUMAN			1	2767	+			59					O00672	Missense_Mutation	SNP	ENST00000006053.6	37	c.61G>A	CCDS10779.1	.	.	.	.	.	.	.	.	.	.	G	6.658	0.489915	0.12702	.	.	ENSG00000006210	ENST00000006053	T	0.12569	2.67	3.0	1.04	0.20106	Chemokine interleukin-8-like domain (3);	1.124180	0.06795	N	0.787674	T	0.06188	0.0160	N	0.04880	-0.145	0.09310	N	1	P	0.43885	0.82	B	0.35770	0.21	T	0.28332	-1.0047	10	0.87932	D	0	-9.8139	5.7233	0.17998	0.2286:0.0:0.7714:0.0	.	59	P78423	X3CL1_HUMAN	S	59	ENSP00000006053:G59S	ENSP00000006053:G59S	G	+	1	0	CX3CL1	55971151	0.000000	0.05858	0.002000	0.10522	0.022000	0.10575	0.291000	0.18994	0.341000	0.23771	0.460000	0.39030	GGC		0.512	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257345.3	NM_002996		8	310	0	0	0	1	0	8	310				
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - Missense(3)	p.R925H(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2773-2775)cGt>cAt		zinc finger protein 845							33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856702G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His					ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2891	+			925						Missense_Mutation	SNP	ENST00000595091.1	37	c.2774G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		7	154	0	0	0	1	0	7	154				
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G	rs570843986	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		14619	0.002		0.0	False		,,,				2504	0.0					ENST00000280665.6																			8	Substitution - Missense(8)	p.Q252H(8)	endometrium(5)|lung(2)|large_intestine(1)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(754-756)caG>caC		decapping mRNA 1B							35.0	42.0	40.0					12																	2062350		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062350C>G	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.756G>C	12.37:g.2062350C>G	ENSP00000280665:p.Gln252His					DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H	p.Q252H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	835	-			252			Poly-Gln.		B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.756G>C	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.361713	0.01235	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19250	2.19;2.17;2.16	4.04	-8.09	0.01090	.	1.568620	0.03045	N	0.153823	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15694	-1.0428	10	0.17369	T	0.5	.	12.662	0.56820	0.0881:0.1213:0.7178:0.0728	.	150;252	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	252;150;126	ENSP00000280665:Q252H;ENSP00000380358:Q150H;ENSP00000444374:Q126H	ENSP00000280665:Q252H	Q	-	3	2	DCP1B	1932611	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.268000	0.02836	-2.090000	0.00859	-2.175000	0.00321	CAG		0.552	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		6	217	0	0	0	1	0	6	217				
RP11-252A24.2	0	broad.mit.edu	37	16	74372644	74372644	+	RNA	SNP	A	A	G			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr16:74372644A>G	ENST00000429810.2	-	0	1552																											TACCCTTGTCAGGGGGAACAA	0.443																																						ENST00000429810.2																			0																																																			0							g.chr16:74372644A>G																													16.37:g.74372644A>G														0	1552	-									RNA	SNP	ENST00000429810.2	37																																																																																						0.443	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			4	156	0	0	0	1	0	4	156				
FRY	10129	broad.mit.edu	37	13	32759184	32759184	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr13:32759184G>A	ENST00000380250.3	+	26	3714	c.3218G>A	c.(3217-3219)cGc>cAc	p.R1073H		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1073						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GACTTGACCCGCATGCTCCTA	0.418																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(3217-3219)cGc>cAc		furry homolog (Drosophila)							135.0	130.0	132.0					13																	32759184		1856	4090	5946	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32759184G>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.3218G>A	13.37:g.32759184G>A	ENSP00000369600:p.Arg1073His						p.R1073H	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	26	3714	+		Lung SC(185;0.0271)	1073					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.3218G>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	34	5.337520	0.95758	.	.	ENSG00000073910	ENST00000380250	T	0.26957	1.7	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.50171	0.1600	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.66351	0.943	T	0.34700	-0.9818	10	0.21540	T	0.41	.	19.4663	0.94943	0.0:0.0:1.0:0.0	.	1073	Q5TBA9	FRY_HUMAN	H	1073	ENSP00000369600:R1073H	ENSP00000369600:R1073H	R	+	2	0	FRY	31657184	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.740000	0.98839	2.675000	0.91044	0.650000	0.86243	CGC		0.418	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		6	622	0	0	0	1	0	6	622				
ZNF141	7700	broad.mit.edu	37	4	337651	337651	+	Silent	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:337651G>A	ENST00000240499.7	+	2	233	c.84G>A	c.(82-84)ttG>ttA	p.L28L	ZNF141_ENST00000512994.1_Silent_p.L28L|ZNF141_ENST00000505939.1_Silent_p.L28L	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	28	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L28L(1)		breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AGCAGAATTTGTATAGAGATG	0.388																																						ENST00000240499.7																			1	Substitution - coding silent(1)	p.L28L(1)	lung(1)	breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						c.(82-84)ttG>ttA		zinc finger protein 141							69.0	74.0	73.0					4																	337651		2203	4300	6503	SO:0001819	synonymous_variant	7700				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr4:337651G>A	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"""Zinc fingers, C2H2-type"", ""-"""	12926	protein-coding gene	gene with protein product		194648	"""zinc finger protein 141 (clone pHZ-44)"""	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.84G>A	4.37:g.337651G>A						ZNF141_ENST00000505939.1_Silent_p.L28L|ZNF141_ENST00000512994.1_Silent_p.L28L	p.L28L	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN			2	233	+			28			KRAB.		Q6DK07	Silent	SNP	ENST00000240499.7	37	c.84G>A	CCDS33931.1																																																																																				0.388	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		5	526	0	0	0	1	0	5	526				
ZNF433	163059	broad.mit.edu	37	19	12125831	12125831	+	Silent	SNP	C	C	T	rs369837478		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:12125831C>T	ENST00000344980.6	-	4	2021	c.1851G>A	c.(1849-1851)ccG>ccA	p.P617P	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA|ZNF433_ENST00000419886.2_Silent_p.P582P|CTD-2006C1.2_ENST00000495324.1_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	617					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						TACATTTATACGGTTTCTCTC	0.448																																						ENST00000419886.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						c.(1744-1746)ccG>ccA		zinc finger protein 433		C		0,4404		0,0,2202	87.0	92.0	90.0		1851	-2.8	0.0	19		90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF433	NM_001080411.1		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		617/674	12125831	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	163059				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12125831C>T	AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"""Zinc fingers, C2H2-type"", ""-"""	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.1851G>A	19.37:g.12125831C>T						CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF433_ENST00000344980.6_Silent_p.P617P	p.P582P			Q8N7K0	ZN433_HUMAN			5	2037	-			617					Q86VX3	Silent	SNP	ENST00000344980.6	37	c.1746G>A	CCDS45983.1																																																																																				0.448	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	NM_152602		5	372	0	0	0	1	0	5	372				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		8	221	0	0	0	1	0	8	221				
LRRC4B	94030	broad.mit.edu	37	19	51021882	51021882	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:51021882G>A	ENST00000599957.1	-	3	1285	c.1088C>T	c.(1087-1089)gCg>gTg	p.A363V	LRRC4B_ENST00000389201.3_Missense_Mutation_p.A363V			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	363	LRRCT.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GATGACGGGCGCATAGCAGGT	0.667																																						ENST00000599957.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(1087-1089)gCg>gTg		leucine rich repeat containing 4B							49.0	55.0	53.0					19																	51021882		2115	4223	6338	SO:0001583	missense	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51021882G>A	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1088C>T	19.37:g.51021882G>A	ENSP00000471502:p.Ala363Val					LRRC4B_ENST00000389201.3_Missense_Mutation_p.A363V	p.A363V			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1285	-		all_neural(266;0.131)	363			LRRCT.		Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	c.1088C>T	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119090	0.56505	.	.	ENSG00000131409	ENST00000389201;ENST00000535879	T	0.33216	1.42	3.9	3.9	0.45041	Immunoglobulin-like fold (1);	0.000000	0.85682	U	0.000000	T	0.17280	0.0415	L	0.38953	1.18	0.54753	D	0.999983	P	0.48162	0.906	B	0.19946	0.027	T	0.12268	-1.0554	10	0.39692	T	0.17	.	13.7911	0.63140	0.0:0.0:1.0:0.0	.	363	Q9NT99	LRC4B_HUMAN	V	363	ENSP00000373853:A363V	ENSP00000373853:A363V	A	-	2	0	LRRC4B	55713694	1.000000	0.71417	0.990000	0.47175	0.943000	0.58893	9.648000	0.98483	2.192000	0.70111	0.561000	0.74099	GCG		0.667	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		4	191	0	0	0	1	0	4	191				
CYP26B1	56603	broad.mit.edu	37	2	72359477	72359477	+	Missense_Mutation	SNP	C	C	T	rs368475843		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:72359477C>T	ENST00000001146.2	-	6	1621	c.1418G>A	c.(1417-1419)cGc>cAc	p.R473H	CYP26B1_ENST00000546307.1_Missense_Mutation_p.R398H|CYP26B1_ENST00000412253.1_Missense_Mutation_p.R282H	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	473			R -> C (in dbSNP:rs61751056). {ECO:0000269|Ref.4}.		bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CAAGGTGATGCGGGGGAAGGT	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		17053	0.001		0.0	False		,,,				2504	0.0					ENST00000001146.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						c.(1417-1419)cGc>cAc		cytochrome P450, family 26, subfamily B, polypeptide 1							46.0	40.0	42.0					2																	72359477		2203	4298	6501	SO:0001583	missense	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72359477C>T		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.1418G>A	2.37:g.72359477C>T	ENSP00000001146:p.Arg473His					CYP26B1_ENST00000546307.1_Missense_Mutation_p.R398H|CYP26B1_ENST00000412253.1_Missense_Mutation_p.R282H	p.R473H	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN			6	1621	-			473		R -> C.			B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Missense_Mutation	SNP	ENST00000001146.2	37	c.1418G>A	CCDS1919.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506780	0.85282	.	.	ENSG00000003137	ENST00000001146;ENST00000412253;ENST00000546307	T;T;T	0.69306	-0.39;-0.39;-0.39	5.64	5.64	0.86602	.	0.112172	0.56097	D	0.000031	T	0.65842	0.2730	L	0.38175	1.15	0.46356	D	0.999003	P;P;P	0.51449	0.907;0.945;0.792	P;P;P	0.53954	0.631;0.738;0.631	T	0.66089	-0.6010	10	0.52906	T	0.07	-4.0647	9.1263	0.36816	0.0:0.8455:0.0:0.1545	.	398;456;473	B7Z2K6;B7Z2P4;Q9NR63	.;.;CP26B_HUMAN	H	473;282;398	ENSP00000001146:R473H;ENSP00000401465:R282H;ENSP00000443304:R398H	ENSP00000001146:R473H	R	-	2	0	CYP26B1	72212985	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.746000	0.47467	2.837000	0.97791	0.655000	0.94253	CGC		0.647	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		6	61	0	0	0	1	0	6	61				
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:97869931A>T	ENST00000461153.2	+	50	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_ENST00000420699.2_Missense_Mutation_p.T998S			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289																																						ENST00000420699.2																			13	Substitution - Missense(13)	p.T998S(13)	kidney(6)|endometrium(4)|prostate(3)	endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(2992-2994)Aca>Tca		ankyrin repeat domain 36							37.0	44.0	42.0					2																	97869931		692	1587	2279	SO:0001583	missense	375248							g.chr2:97869931A>T	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2992A>T	2.37:g.97869931A>T	ENSP00000419530:p.Thr998Ser					ANKRD36_ENST00000461153.2_Missense_Mutation_p.T998S	p.T998S	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			50	3236	+			998					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.2992A>T	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	3.819	-0.038219	0.07497	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.32753	1.44;1.44	0.63	-0.824	0.10812	.	.	.	.	.	T	0.14056	0.0340	L	0.27053	0.805	0.09310	N	1	P	0.40476	0.718	B	0.28849	0.095	T	0.12837	-1.0532	8	0.38643	T	0.18	.	.	.	.	.	998	A6QL64	AN36A_HUMAN	S	998;998;360	ENSP00000419530:T998S;ENSP00000391950:T998S	ENSP00000391950:T998S	T	+	1	0	ANKRD36	97233658	0.019000	0.18553	0.011000	0.14972	0.022000	0.10575	-0.850000	0.04317	-0.324000	0.08589	0.147000	0.16070	ACA		0.289	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			3	40	0	0	0	1	0	3	40				
CDH10	1008	broad.mit.edu	37	5	24511502	24511502	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr5:24511502G>T	ENST00000264463.4	-	6	1443	c.936C>A	c.(934-936)gaC>gaA	p.D312E		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	312	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TATCAGTACCGTCACCATCAA	0.438										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(934-936)gaC>gaA		cadherin 10, type 2 (T2-cadherin)							256.0	206.0	223.0					5																	24511502		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24511502G>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.936C>A	5.37:g.24511502G>T	ENSP00000264463:p.Asp312Glu	HNSCC(23;0.051)					p.D312E	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	6	1443	-			312			Cadherin 3.		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.936C>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151750	0.38021	.	.	ENSG00000040731	ENST00000264463	T	0.01685	4.69	5.22	1.4	0.22301	Cadherin (4);Cadherin-like (1);	0.049789	0.85682	D	0.000000	T	0.03220	0.0094	L	0.35723	1.085	0.35051	D	0.760673	P	0.42203	0.773	P	0.52856	0.711	T	0.53655	-0.8408	10	0.33940	T	0.23	.	8.8072	0.34945	0.7795:0.0:0.2205:0.0	.	312	Q9Y6N8	CAD10_HUMAN	E	312	ENSP00000264463:D312E	ENSP00000264463:D312E	D	-	3	2	CDH10	24547259	0.996000	0.38824	0.987000	0.45799	0.607000	0.37147	0.495000	0.22483	0.004000	0.14682	-0.247000	0.11927	GAC		0.438	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		13	609	1	0	2.48551e-13	1	2.67508e-13	13	609				
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	lincRNA	SNP	G	G	A	rs28392876	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:16946438G>A	ENST00000412962.1	-	0	1081				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCCTTCCGCCGGGCCAGCAGC	0.672																																						ENST00000412962.1																			0																																																			0							g.chr1:16946438G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946438G>A														0	1081	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		7	52	0	0	0	1	0	7	52				
RYR2	6262	broad.mit.edu	37	1	237632393	237632393	+	Splice_Site	SNP	G	G	A	rs566885717		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:237632393G>A	ENST00000366574.2	+	17	1931	c.1614G>A	c.(1612-1614)gcG>gcA	p.A538A	RYR2_ENST00000360064.6_Splice_Site_p.A536A|RYR2_ENST00000542537.1_Splice_Site_p.A522A|MIR4428_ENST00000584884.1_RNA	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	538					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTTTGCAGCGGCTCTAATTA	0.378													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16681	0.0		0.0	False		,,,				2504	0.0					ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.e17-1		ryanodine receptor 2 (cardiac)							100.0	98.0	99.0					1																	237632393		1819	4080	5899	SO:0001630	splice_region_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237632393G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1613-1G>A	1.37:g.237632393G>A						RYR2_ENST00000542537.1_Splice_Site_p.A522_splice|RYR2_ENST00000360064.6_Splice_Site_p.A536_splice	p.A538_splice	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		17	1931	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	538					Q15411|Q546N8|Q5T3P2	Splice_Site	SNP	ENST00000366574.2	37	c.1612_splice	CCDS55691.1																																																																																				0.378	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	Silent	8	252	0	0	0	1	0	8	252				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	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			5	302	0	0	0	1	0	5	302				
KCNC4	3749	broad.mit.edu	37	1	110768613	110768613	+	Silent	SNP	C	C	T	rs200511444	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:110768613C>T	ENST00000369787.3	+	3	1659	c.1632C>T	c.(1630-1632)ggC>ggT	p.G544G	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Silent_p.G544G|KCNC4_ENST00000413138.3_Silent_p.G544G	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	544					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGCAGAATGGCGATGCCAACG	0.652													C|||	2	0.000399361	0.0	0.0	5008	,	,		18102	0.002		0.0	False		,,,				2504	0.0					ENST00000369787.3																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32						c.(1630-1632)ggC>ggT		potassium voltage-gated channel, Shaw-related subfamily, member 4							61.0	60.0	61.0					1																	110768613		2203	4300	6503	SO:0001819	synonymous_variant	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110768613C>T	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1632C>T	1.37:g.110768613C>T						KCNC4_ENST00000413138.3_Silent_p.G544G|KCNC4_ENST00000438661.2_Silent_p.G544G|KCNC4_ENST00000412512.2_Intron	p.G544G	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	3	1659	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	544					Q3MIM4|Q5TBI6	Silent	SNP	ENST00000369787.3	37	c.1632C>T	CCDS821.1																																																																																				0.652	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		5	322	0	0	0	1	0	5	322				
ANKRD50	57182	broad.mit.edu	37	4	125599973	125599973	+	Silent	SNP	A	A	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:125599973A>T	ENST00000504087.1	-	3	1637	c.600T>A	c.(598-600)atT>atA	p.I200I	ANKRD50_ENST00000515641.1_Silent_p.I21I	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	200										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CACCTTCAGTAATGTTACACC	0.453																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(598-600)atT>atA		ankyrin repeat domain 50							195.0	191.0	193.0					4																	125599973		2203	4300	6503	SO:0001819	synonymous_variant	57182							g.chr4:125599973A>T	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.600T>A	4.37:g.125599973A>T						ANKRD50_ENST00000515641.1_Silent_p.I21I	p.I200I	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			3	1637	-			200					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Silent	SNP	ENST00000504087.1	37	c.600T>A	CCDS34060.1																																																																																				0.453	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		18	588	0	0	0	1	0	18	588				
DDN	23109	broad.mit.edu	37	12	49391585	49391585	+	Silent	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr12:49391585C>T	ENST00000421952.2	-	2	1095	c.1074G>A	c.(1072-1074)ccG>ccA	p.P358P	RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	358	Interaction with ACTN1.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GAGCGGGATGCGGGGCACAGG	0.597																																						ENST00000421952.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						c.(1072-1074)ccG>ccA		dendrin							37.0	38.0	38.0					12																	49391585		2203	4300	6503	SO:0001819	synonymous_variant	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49391585C>T	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.1074G>A	12.37:g.49391585C>T							p.P358P	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN			2	1095	-			358			Interaction with ACTN1.			Silent	SNP	ENST00000421952.2	37	c.1074G>A	CCDS31791.2																																																																																				0.597	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			5	247	0	0	0	1	0	5	247				
ZNF208	7757	broad.mit.edu	37	19	22155559	22155559	+	Silent	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:22155559C>T	ENST00000397126.4	-	4	2425	c.2277G>A	c.(2275-2277)aaG>aaA	p.K759K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	759					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGAGGACCACTTATAGGCTT	0.373																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2275-2277)aaG>aaA		zinc finger protein 208							30.0	32.0	31.0					19																	22155559		1950	4156	6106	SO:0001819	synonymous_variant	7757							g.chr19:22155559C>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2277G>A	19.37:g.22155559C>T						ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.K759K	NM_007153.3	NP_009084.2					4	2425	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.2277G>A	CCDS54240.1																																																																																				0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		6	332	0	0	0	1	0	6	332				
KIAA0408	9729	broad.mit.edu	37	6	127768717	127768717	+	Silent	SNP	C	C	T	rs528764032	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr6:127768717C>T	ENST00000483725.3	-	5	1083	c.747G>A	c.(745-747)acG>acA	p.T249T	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	249										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)		CACATTTTTTCGTAGAATTGC	0.388													C|||	2	0.000399361	0.0	0.0	5008	,	,		18557	0.002		0.0	False		,,,				2504	0.0					ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(745-747)acG>acA		KIAA0408							79.0	78.0	78.0					6																	127768717		2203	4300	6503	SO:0001819	synonymous_variant	9729						protein binding	g.chr6:127768717C>T	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.747G>A	6.37:g.127768717C>T						SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	p.T249T	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	5	1083	-			249					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Silent	SNP	ENST00000483725.3	37	c.747G>A	CCDS34531.1																																																																																				0.388	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		14	440	0	0	0	1	0	14	440				
SCN1A	6323	broad.mit.edu	37	2	166866301	166866301	+	Silent	SNP	T	T	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:166866301T>A	ENST00000303395.4	-	20	3929	c.3930A>T	c.(3928-3930)ggA>ggT	p.G1310G	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.G1299G|SCN1A_ENST00000409050.1_Silent_p.G1282G|SCN1A_ENST00000423058.2_Silent_p.G1310G			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1310					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATTTGATGGCTCCAAGTTCTG	0.378																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(3928-3930)ggA>ggT		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						91.0	90.0	90.0					2																	166866301		2203	4300	6503	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166866301T>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3930A>T	2.37:g.166866301T>A						SCN1A_ENST00000375405.3_Silent_p.G1299G|SCN1A_ENST00000303395.4_Silent_p.G1310G|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.G1282G	p.G1310G	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			20	3947	-			1310					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.3930A>T	CCDS54413.1																																																																																				0.378	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		5	387	0	0	0	1	0	5	387				
ACOX3	8310	broad.mit.edu	37	4	8368698	8368698	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:8368698G>A	ENST00000356406.5	-	18	2170	c.2093C>T	c.(2092-2094)tCg>tTg	p.S698L	ACOX3_ENST00000503233.1_Missense_Mutation_p.S698L|ACOX3_ENST00000515797.1_5'UTR|ACOX3_ENST00000413009.2_3'UTR	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	698					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CTAGAGCTTCGATTTCAGACT	0.517																																						ENST00000356406.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						c.(2092-2094)tCg>tTg		acyl-CoA oxidase 3, pristanoyl							127.0	118.0	121.0					4																	8368698		2203	4300	6503	SO:0001583	missense	8310				bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	g.chr4:8368698G>A	Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.2093C>T	4.37:g.8368698G>A	ENSP00000348775:p.Ser698Leu					ACOX3_ENST00000515797.1_5'UTR|ACOX3_ENST00000413009.2_3'UTR|ACOX3_ENST00000503233.1_Missense_Mutation_p.S698L	p.S698L	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN			18	2170	-			698					Q96AJ8	Missense_Mutation	SNP	ENST00000356406.5	37	c.2093C>T	CCDS3401.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598931	0.66332	.	.	ENSG00000087008	ENST00000356406;ENST00000503233	D;D	0.93247	-3.19;-3.19	5.16	5.16	0.70880	.	0.535944	0.17481	N	0.172735	D	0.92984	0.7767	M	0.76574	2.34	0.24015	N	0.996166	D	0.61697	0.99	B	0.42188	0.379	D	0.88987	0.3412	10	0.87932	D	0	1.4088	16.1529	0.81634	0.0:0.0:1.0:0.0	.	698	O15254	ACOX3_HUMAN	L	698	ENSP00000348775:S698L;ENSP00000421625:S698L	ENSP00000348775:S698L	S	-	2	0	ACOX3	8419598	0.948000	0.32251	0.037000	0.18230	0.026000	0.11368	7.092000	0.76930	2.411000	0.81874	0.655000	0.94253	TCG		0.517	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4			8	416	0	0	0	1	0	8	416				
KRTAP9-2	83899	broad.mit.edu	37	17	39383115	39383115	+	Missense_Mutation	SNP	C	C	T	rs533925701	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:39383115C>T	ENST00000377721.3	+	1	216	c.209C>T	c.(208-210)aCc>aTc	p.T70I	KRTAP9-2_ENST00000455970.2_Missense_Mutation_p.T70I	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	70	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament (GO:0045095)				large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGCCAGCCCACCTGTGTGACC	0.652													.|||	13	0.00259585	0.0098	0.0	5008	,	,		21756	0.0		0.0	False		,,,				2504	0.0					ENST00000377721.3																			0				large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(208-210)aCc>aTc		keratin associated protein 9-2							48.0	43.0	45.0					17																	39383115		2203	4296	6499	SO:0001583	missense	83899					keratin filament	protein binding	g.chr17:39383115C>T	AJ406946	CCDS32651.1	17q21.2	2013-06-25			ENSG00000239886	ENSG00000239886		"""Keratin associated proteins"""	16926	protein-coding gene	gene with protein product						11279113	Standard	NM_031961		Approved	KAP9.2	uc002hwf.3	Q9BYQ4	OTTHUMG00000133609	ENST00000377721.3:c.209C>T	17.37:g.39383115C>T	ENSP00000366950:p.Thr70Ile					KRTAP9-2_ENST00000455970.2_Missense_Mutation_p.T70I	p.T70I	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	216	+		Breast(137;0.000496)	70			17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].		Q17RK8|Q2TB15|Q6ISF6	Missense_Mutation	SNP	ENST00000377721.3	37	c.209C>T	CCDS32651.1	.	.	.	.	.	.	.	.	.	.	.	9.943	1.217970	0.22373	.	.	ENSG00000239886	ENST00000377721;ENST00000455970	T;T	0.01422	4.93;4.91	2.79	-3.35	0.04928	.	.	.	.	.	T	0.01222	0.0040	L	0.36672	1.1	0.09310	N	1	B	0.18166	0.026	B	0.12837	0.008	T	0.45026	-0.9289	9	0.30078	T	0.28	.	4.8684	0.13620	0.0:0.3181:0.4293:0.2527	.	70	Q9BYQ4	KRA92_HUMAN	I	70	ENSP00000366950:T70I;ENSP00000398325:T70I	ENSP00000366950:T70I	T	+	2	0	KRTAP9-2	36636641	0.173000	0.23056	0.000000	0.03702	0.143000	0.21401	0.613000	0.24299	-0.580000	0.05944	-0.267000	0.10333	ACC		0.652	KRTAP9-2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257717.1			6	377	0	0	0	1	0	6	377				
ZAK	51776	broad.mit.edu	37	2	174131396	174131396	+	Missense_Mutation	SNP	G	G	A	rs376247159		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:174131396G>A	ENST00000375213.3	+	20	2399	c.2321G>A	c.(2320-2322)cGg>cAg	p.R774Q	MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.R774Q|MLK7-AS1_ENST00000422703.1_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		774					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										GTGGAATACCGGAAAAAGCCC	0.512																																						ENST00000375213.3																			0											c.(2320-2322)cGg>cAg									25.0	29.0	27.0					2																	174131396		1891	4116	6007	SO:0001583	missense	0							g.chr2:174131396G>A																												ENST00000375213.3:c.2321G>A	2.37:g.174131396G>A	ENSP00000364361:p.Arg774Gln					MLTK_ENST00000409176.2_Missense_Mutation_p.R774Q|MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA	p.R774Q	NM_016653.2	NP_057737.2					20	2399	+								B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	ENST00000375213.3	37	c.2321G>A	CCDS42777.1	.	.	.	.	.	.	.	.	.	.	G	9.879	1.201124	0.22121	.	.	ENSG00000091436	ENST00000409176;ENST00000375213	T;T	0.73681	-0.77;-0.77	6.08	3.25	0.37280	.	0.546462	0.21106	N	0.080070	T	0.51075	0.1653	N	0.17082	0.46	0.09310	N	0.999999	B	0.13594	0.008	B	0.06405	0.002	T	0.28933	-1.0028	10	0.27082	T	0.32	.	2.4083	0.04418	0.2178:0.2379:0.4366:0.1077	.	774	Q9NYL2	MLTK_HUMAN	Q	774	ENSP00000387259:R774Q;ENSP00000364361:R774Q	ENSP00000364361:R774Q	R	+	2	0	AC013461.1	173839642	0.000000	0.05858	0.009000	0.14445	0.735000	0.41995	0.968000	0.29357	0.414000	0.25790	0.591000	0.81541	CGG		0.512	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1			4	86	0	0	0	1	0	4	86				
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs375625296		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:21731144T>G	ENST00000578713.1	+	1	450	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000584755.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR					ubiquitin B pseudogene 4									p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542																																						ENST00000584755.1																			18	Substitution - Missense(18)	p.L149R(18)	endometrium(12)|prostate(6)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(445-447)cTg>cGg																																						SO:0001583	missense	0							g.chr17:21731144T>G	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.446T>G	17.37:g.21731144T>G	ENSP00000464265:p.Leu149Arg					UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R	p.L149R							2	843	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.446T>G																																																																																					0.542	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			10	324	0	0	0	1	0	10	324				
ZHX3	23051	broad.mit.edu	37	20	39833205	39833205	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr20:39833205C>T	ENST00000309060.3	-	4	767	c.352G>A	c.(352-354)Gca>Aca	p.A118T	ZHX3_ENST00000544979.2_Missense_Mutation_p.A118T|ZHX3_ENST00000559234.1_Missense_Mutation_p.A118T|ZHX3_ENST00000557816.1_Missense_Mutation_p.A118T|ZHX3_ENST00000558993.1_Missense_Mutation_p.A118T|ZHX3_ENST00000560361.1_Missense_Mutation_p.A118T|ZHX3_ENST00000540170.1_Missense_Mutation_p.A118T|ZHX3_ENST00000432768.2_Missense_Mutation_p.A118T			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	118					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				GGGGTTTTTGCCAGAAAACTG	0.493																																						ENST00000309060.3																			0				endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(352-354)Gca>Aca		zinc fingers and homeoboxes 3							98.0	96.0	97.0					20																	39833205		2203	4300	6503	SO:0001583	missense	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39833205C>T	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.352G>A	20.37:g.39833205C>T	ENSP00000312222:p.Ala118Thr					ZHX3_ENST00000560361.1_Missense_Mutation_p.A118T|ZHX3_ENST00000540170.1_Missense_Mutation_p.A118T|ZHX3_ENST00000557816.1_Missense_Mutation_p.A118T|ZHX3_ENST00000544979.2_Missense_Mutation_p.A118T|ZHX3_ENST00000432768.2_Missense_Mutation_p.A118T|ZHX3_ENST00000558993.1_Missense_Mutation_p.A118T|ZHX3_ENST00000559234.1_Missense_Mutation_p.A118T	p.A118T			Q9H4I2	ZHX3_HUMAN			4	767	-		Myeloproliferative disorder(115;0.00425)	118					E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	c.352G>A	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.335660	0.24253	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000432768;ENST00000441102;ENST00000419740	T;T;T;T;T	0.26373	1.74;3.17;3.17;2.97;1.74	6.07	6.07	0.98685	Zinc finger, C2H2-like (1);	0.159420	0.56097	D	0.000037	T	0.22166	0.0534	N	0.20530	0.585	0.38371	D	0.944878	B;B;B;P	0.47545	0.044;0.044;0.296;0.897	B;B;B;P	0.46585	0.047;0.047;0.079;0.521	T	0.01720	-1.1288	10	0.05351	T	0.99	-15.9229	20.6439	0.99570	0.0:1.0:0.0:0.0	.	118;118;118;118	A8K8Q0;Q9H4I2;F5H820;F6R4Q5	.;ZHX3_HUMAN;.;.	T	118	ENSP00000312222:A118T;ENSP00000362360:A118T;ENSP00000442290:A118T;ENSP00000443783:A118T;ENSP00000415498:A118T	ENSP00000312222:A118T	A	-	1	0	ZHX3	39266619	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.238000	0.51352	2.884000	0.98904	0.655000	0.94253	GCA		0.493	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		5	470	0	0	0	1	0	5	470				
RPLP0P2	113157	broad.mit.edu	37	11	61405030	61405030	+	RNA	SNP	T	T	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:61405030T>A	ENST00000496593.1	+	0	1634					NR_002775.2				ribosomal protein, large, P0 pseudogene 2																		ctgctgctgctgcAGCCCCAG	0.552																																						ENST00000496593.1																			0																																																			0							g.chr11:61405030T>A	BC010523		11q12.2	2014-08-07			ENSG00000243742	ENSG00000243742		"""L ribosomal proteins"""	17960	pseudogene	pseudogene						19123937, 25089627	Standard	NR_002775		Approved		uc001nrz.1		OTTHUMG00000158396		11.37:g.61405030T>A								NR_002775.2						0	1634	+									RNA	SNP	ENST00000496593.1	37																																																																																						0.552	RPLP0P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000350911.1	NR_002775		4	177	0	0	0	1	0	4	177				
MLXIPL	51085	broad.mit.edu	37	7	73008307	73008307	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr7:73008307A>G	ENST00000313375.3	-	17	2494	c.2447T>C	c.(2446-2448)cTg>cCg	p.L816P	MLXIPL_ENST00000429400.2_Missense_Mutation_p.L797P|MLXIPL_ENST00000414749.2_Missense_Mutation_p.L814P|MLXIPL_ENST00000395189.1_Missense_Mutation_p.L723P|MLXIPL_ENST00000434326.1_3'UTR|MLXIPL_ENST00000354613.1_Missense_Mutation_p.L795P	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	816					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				TAGGGAGTTCAGGACAGCTGG	0.607																																						ENST00000313375.3																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(2446-2448)cTg>cCg		MLX interacting protein-like							57.0	55.0	56.0					7																	73008307		2203	4300	6503	SO:0001583	missense	51085				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr7:73008307A>G	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.2447T>C	7.37:g.73008307A>G	ENSP00000320886:p.Leu816Pro					MLXIPL_ENST00000354613.1_Missense_Mutation_p.L795P|MLXIPL_ENST00000395189.1_Missense_Mutation_p.L723P|MLXIPL_ENST00000414749.2_Missense_Mutation_p.L814P|MLXIPL_ENST00000429400.2_Missense_Mutation_p.L797P|MLXIPL_ENST00000434326.1_3'UTR	p.L816P	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN			17	2494	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	816					C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	ENST00000313375.3	37	c.2447T>C	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.457595	0.63401	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189	T;T;T;T;T	0.33865	2.03;2.05;2.02;2.06;1.39	4.61	3.41	0.39046	.	0.343732	0.23567	N	0.046791	T	0.54598	0.1868	M	0.70595	2.14	0.53688	D	0.999972	D;D;D;D	0.76494	0.999;0.999;0.998;0.998	D;D;D;D	0.83275	0.946;0.976;0.996;0.996	T	0.54437	-0.8294	10	0.87932	D	0	-16.4415	7.9763	0.30157	0.7918:0.2082:0.0:0.0	.	816;797;814;795	Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	MLXPL_HUMAN;.;.;.	P	814;797;816;795;723	ENSP00000412330:L814P;ENSP00000406296:L797P;ENSP00000320886:L816P;ENSP00000346629:L795P;ENSP00000378616:L723P	ENSP00000320886:L816P	L	-	2	0	MLXIPL	72646243	1.000000	0.71417	0.996000	0.52242	0.836000	0.47400	8.527000	0.90594	0.756000	0.33013	0.459000	0.35465	CTG		0.607	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		5	163	0	0	0	1	0	5	163				
LRP2	4036	broad.mit.edu	37	2	170044544	170044544	+	Silent	SNP	G	G	A	rs143637076		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:170044544G>A	ENST00000263816.3	-	49	9549	c.9264C>T	c.(9262-9264)atC>atT	p.I3088I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3088	LDL-receptor class A 25. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.I3088I(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TCATCATCTCGATGCAGCGCC	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		20795	0.0		0.0	False		,,,				2504	0.001					ENST00000263816.3																			1	Substitution - coding silent(1)	p.I3088I(1)	kidney(1)	biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(9262-9264)atC>atT		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	G		2,4404	4.2+/-10.8	0,2,2201	149.0	121.0	131.0		9264	-11.6	0.1	2	dbSNP_134	131	0,8600		0,0,4300	no	coding-synonymous	LRP2	NM_004525.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		3088/4656	170044544	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170044544G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.9264C>T	2.37:g.170044544G>A							p.I3088I	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	49	9549	-			3088			LDL-receptor class A 25.		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.9264C>T	CCDS2232.1																																																																																				0.512	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		12	395	0	0	0	1	0	12	395				
KRTAP5-3	387266	broad.mit.edu	37	11	1629133	1629133	+	Silent	SNP	A	A	G			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:1629133A>G	ENST00000399685.1	-	1	560	c.483T>C	c.(481-483)tgT>tgC	p.C161C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	161	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		agcagGGCTTACAGCAGCTGG	0.617																																						ENST00000399685.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8						c.(481-483)tgT>tgC		keratin associated protein 5-3							146.0	156.0	153.0					11																	1629133		2202	4299	6501	SO:0001819	synonymous_variant	387266					keratin filament		g.chr11:1629133A>G	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"""Keratin associated proteins"""	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.483T>C	11.37:g.1629133A>G							p.C161C	NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	560	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	161			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Silent	SNP	ENST00000399685.1	37	c.483T>C	CCDS41591.1																																																																																				0.617	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			7	1200	0	0	0	1	0	7	1200				
HIST1H2BE	8344	broad.mit.edu	37	6	26184216	26184216	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr6:26184216T>G	ENST00000356530.3	+	1	259	c.193T>G	c.(193-195)Tcc>Gcc	p.S65A		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	65					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(1)	4						GATCATGAATTCCTTTGTCAA	0.587																																						ENST00000356530.3																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(193-195)Tcc>Gcc		histone cluster 1, H2be							154.0	145.0	148.0					6																	26184216		2203	4300	6503	SO:0001583	missense	8344				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26184216T>G	Z80780	CCDS4588.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197697	ENSG00000274290		"""Histones / Replication-dependent"""	4753	protein-coding gene	gene with protein product		602805	"""H2B histone family, member H"", ""histone 1, H2be"""	H2BFH		9119399, 12408966	Standard	NM_003523		Approved	H2B/h, H2B.h	uc003ngt.3	P62807	OTTHUMG00000014427	ENST00000356530.3:c.193T>G	6.37:g.26184216T>G	ENSP00000348924:p.Ser65Ala						p.S65A	NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN			1	259	+			65					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000356530.3	37	c.193T>G	CCDS4588.1	.	.	.	.	.	.	.	.	.	.	.	15.08	2.725694	0.48833	.	.	ENSG00000197697	ENST00000356530	T	0.67171	-0.25	4.96	4.96	0.65561	.	0.000000	0.30732	U	0.008990	T	0.70745	0.3259	.	.	.	0.40050	D	0.975766	.	.	.	.	.	.	T	0.76337	-0.2996	7	0.87932	D	0	.	13.7937	0.63157	0.0:0.0:0.0:1.0	.	.	.	.	A	65	ENSP00000348924:S65A	ENSP00000348924:S65A	S	+	1	0	HIST1H2BE	26292195	1.000000	0.71417	1.000000	0.80357	0.022000	0.10575	7.612000	0.82975	2.005000	0.58758	0.438000	0.28831	TCC		0.587	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040090.1	NM_003523		10	836	0	0	0	1	0	10	836				
HN1	51155	broad.mit.edu	37	17	73132223	73132223	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:73132223C>T	ENST00000409753.3	-	5	724	c.439G>A	c.(439-441)Ggc>Agc	p.G147S	HN1_ENST00000481647.1_Missense_Mutation_p.G101S|HN1_ENST00000482348.1_Missense_Mutation_p.G101S|HN1_ENST00000405458.3_Missense_Mutation_p.G101S|HN1_ENST00000356033.4_Silent_p.A140A|HN1_ENST00000470924.1_Missense_Mutation_p.G101S|HN1_ENST00000476258.1_Missense_Mutation_p.G101S|HN1_ENST00000392566.2_Missense_Mutation_p.G101S|RP11-649A18.5_ENST00000584339.1_RNA	NM_016185.2	NP_057269.1	Q9UK76	HN1_HUMAN	hematological and neurological expressed 1	147					developmental process (GO:0032502)	nucleus (GO:0005634)			HN1/USH1G(2)	breast(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					CTGGACTTGCCGCCAGGGGGA	0.617																																						ENST00000476258.1																		HN1/USH1G(2)	0				breast(1)	1						c.(301-303)Ggc>Agc		hematological and neurological expressed 1							72.0	72.0	72.0					17																	73132223		2203	4300	6503	SO:0001583	missense	51155					nucleus		g.chr17:73132223C>T	AF086910	CCDS32729.1, CCDS45771.1, CCDS45772.1	17q25.1	2013-09-20			ENSG00000189159	ENSG00000189159			14569	protein-coding gene	gene with protein product	"""androgen-regulated protein 2"""					15094197	Standard	NM_001002032		Approved	ARM2, HN1A	uc002jnb.1	Q9UK76	OTTHUMG00000154521	ENST00000409753.3:c.439G>A	17.37:g.73132223C>T	ENSP00000387059:p.Gly147Ser					HN1_ENST00000470924.1_Missense_Mutation_p.G101S|HN1_ENST00000481647.1_Missense_Mutation_p.G101S|HN1_ENST00000482348.1_Missense_Mutation_p.G101S|HN1_ENST00000356033.4_Silent_p.A140A|HN1_ENST00000392566.2_Missense_Mutation_p.G101S|HN1_ENST00000409753.3_Missense_Mutation_p.G147S|HN1_ENST00000405458.3_Missense_Mutation_p.G101S	p.G101S			Q9UK76	HN1_HUMAN			5	1408	-	all_lung(278;0.14)|Lung NSC(278;0.168)		147					B2R6K3|Q53FG7|Q7Z2D2|Q7Z2F0	Missense_Mutation	SNP	ENST00000409753.3	37	c.301G>A	CCDS45771.1	.	.	.	.	.	.	.	.	.	.	C	34	5.394833	0.96009	.	.	ENSG00000189159	ENST00000405458;ENST00000409753;ENST00000392566	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	D	0.83403	0.5247	.	.	.	0.51767	D	0.999934	D	0.89917	1.0	D	0.91635	0.999	D	0.84802	0.0785	7	0.87932	D	0	-34.3147	18.3821	0.90454	0.0:1.0:0.0:0.0	.	147	Q9UK76	HN1_HUMAN	S	101;147;101	.	ENSP00000440912:G101S	G	-	1	0	HN1	70643818	0.998000	0.40836	0.969000	0.41365	0.961000	0.63080	4.949000	0.63596	2.773000	0.95371	0.643000	0.83706	GGC		0.617	HN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335692.1	NM_001002032		11	465	0	0	0	1	0	11	465				
ROBO1	6091	broad.mit.edu	37	3	78655890	78655890	+	Silent	SNP	G	G	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr3:78655890G>T	ENST00000464233.1	-	29	4850	c.4737C>A	c.(4735-4737)ctC>ctA	p.L1579L	ROBO1_ENST00000436010.2_Silent_p.L1540L|ROBO1_ENST00000467549.1_Silent_p.L1479L|ROBO1_ENST00000495273.1_Silent_p.L1534L|ROBO1_ENST00000466906.1_5'UTR	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1579					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TACCTTGGATGAGATGAGTCT	0.448																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(4618-4620)ctC>ctA		roundabout, axon guidance receptor, homolog 1 (Drosophila)							555.0	522.0	533.0					3																	78655890		2063	4187	6250	SO:0001819	synonymous_variant	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78655890G>T	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4737C>A	3.37:g.78655890G>T						ROBO1_ENST00000467549.1_Silent_p.L1479L|ROBO1_ENST00000466906.1_5'UTR|ROBO1_ENST00000495273.1_Silent_p.L1534L|ROBO1_ENST00000464233.1_Silent_p.L1579L	p.L1540L			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	27	5617	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1579					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Silent	SNP	ENST00000464233.1	37	c.4620C>A	CCDS54611.1																																																																																				0.448	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		29	1497	1	0	2.35188e-11	1	2.50999e-11	29	1497				
C3orf58	205428	broad.mit.edu	37	3	143704424	143704424	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr3:143704424C>G	ENST00000315691.3	+	2	1232	c.697C>G	c.(697-699)Ctt>Gtt	p.L233V	C3orf58_ENST00000441925.2_5'UTR|C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000495414.1_Missense_Mutation_p.L24V	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	233					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGCAAAGTATCTTGGAGCTTG	0.393																																						ENST00000315691.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(697-699)Ctt>Gtt		chromosome 3 open reading frame 58							152.0	151.0	152.0					3																	143704424		2203	4300	6503	SO:0001583	missense	205428					COPI vesicle coat|extracellular region		g.chr3:143704424C>G	AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"""deleted in autism 1"", ""hypoxia and Akt induced stem cell factor"""	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.697C>G	3.37:g.143704424C>G	ENSP00000320081:p.Leu233Val					C3orf58_ENST00000441925.2_5'UTR|C3orf58_ENST00000495414.1_Missense_Mutation_p.L24V|C3orf58_ENST00000493396.1_Intron	p.L233V	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN			2	1232	+			233					B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	37	c.697C>G	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.573485	0.45902	.	.	ENSG00000181744	ENST00000315691;ENST00000495414;ENST00000492452	T	0.36878	1.23	5.24	4.37	0.52481	.	0.000000	0.64402	D	0.000001	T	0.46698	0.1406	M	0.73217	2.22	0.80722	D	1	P;D	0.56287	0.915;0.975	P;P	0.52957	0.596;0.714	T	0.45731	-0.9241	10	0.51188	T	0.08	.	8.7331	0.34512	0.0:0.7811:0.0:0.2189	.	24;233	B7Z1W3;Q8NDZ4	.;CC058_HUMAN	V	233;24;39	ENSP00000320081:L233V	ENSP00000320081:L233V	L	+	1	0	C3orf58	145187114	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.837000	0.55820	1.228000	0.43614	-0.136000	0.14681	CTT		0.393	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		13	593	0	0	0	1	0	13	593				
GUSBP11	91316	broad.mit.edu	37	22	23981016	23981016	+	RNA	SNP	A	A	G	rs111645330	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr22:23981016A>G	ENST00000455485.1	-	0	3473				AP000347.4_ENST00000430707.2_RNA|KB-1572G7.3_ENST00000390329.3_RNA			Q6P575	BGP11_HUMAN	glucuronidase, beta pseudogene 11						carbohydrate metabolic process (GO:0005975)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										CCAGGTCACCATCAAGATTCC	0.552													A|||	17	0.00339457	0.0	0.0029	5008	,	,		19500	0.0		0.008	False		,,,				2504	0.0072					ENST00000390329.2																			0																																																			0							g.chr22:23981016A>G			22q11.23	2011-06-09			ENSG00000228315	ENSG00000228315			42325	pseudogene	pseudogene							Standard	NR_024448		Approved		uc011aiz.2	Q6P575	OTTHUMG00000150709		22.37:g.23981016A>G						AP000347.4_ENST00000430707.2_RNA								0	112	-									RNA	SNP	ENST00000455485.1	37																																																																																						0.552	GUSBP11-005	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000319697.1			5	195	0	0	0	1	0	5	195				
ZNF844	284391	broad.mit.edu	37	19	12187275	12187275	+	Missense_Mutation	SNP	G	G	C	rs376579156	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:12187275G>C	ENST00000439326.3	+	4	1515	c.1340G>C	c.(1339-1341)cGt>cCt	p.R447P	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	447					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R447P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCGTATGAGTGTA	0.433																																						ENST00000439326.3																			1	Substitution - Missense(1)	p.R447P(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						c.(1339-1341)cGt>cCt		zinc finger protein 844							60.0	54.0	56.0					19																	12187275		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187275G>C	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1340G>C	19.37:g.12187275G>C	ENSP00000392024:p.Arg447Pro					ZNF844_ENST00000441304.2_3'UTR	p.R447P	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN			4	1515	+			447					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1340G>C	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	T	0.637	-0.814748	0.02776	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.03717	3.83	2.88	-3.56	0.04626	.	.	.	.	.	T	0.00524	0.0017	N	0.00049	-2.415	0.51482	D	0.999921	B	0.02656	0.0	B	0.01281	0.0	T	0.45175	-0.9279	9	0.02654	T	1	.	2.6221	0.04919	0.1164:0.4107:0.122:0.3509	.	447	Q08AG5	ZN844_HUMAN	P	447	ENSP00000392024:R447P	ENSP00000392024:R447P	R	+	2	0	ZNF844	12048275	0.000000	0.05858	0.012000	0.15200	0.001000	0.01503	-7.066000	0.00045	-0.984000	0.03507	-4.296000	0.00007	CGT		0.433	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			8	394	0	0	0	1	0	8	394				
ADAMTS2	9509	broad.mit.edu	37	5	178562924	178562924	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr5:178562924G>A	ENST00000251582.7	-	13	2172	c.2071C>T	c.(2071-2073)Cgc>Tgc	p.R691C		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	691	Cys-rich.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CAGTCCCCGCGCACACAGAGG	0.637																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2071-2073)Cgc>Tgc		ADAM metallopeptidase with thrombospondin type 1 motif, 2							65.0	60.0	62.0					5																	178562924		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178562924G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2071C>T	5.37:g.178562924G>A	ENSP00000251582:p.Arg691Cys						p.R691C	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	13	2172	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	691			Cys-rich.			Missense_Mutation	SNP	ENST00000251582.7	37	c.2071C>T	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797583	0.70567	.	.	ENSG00000087116	ENST00000251582	T	0.69175	-0.38	5.37	5.37	0.77165	.	0.000000	0.56097	D	0.000034	D	0.83440	0.5255	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.68192	0.956	D	0.86425	0.1757	10	0.72032	D	0.01	.	14.6038	0.68463	0.0:0.0:0.8538:0.1462	.	691	O95450	ATS2_HUMAN	C	691	ENSP00000251582:R691C	ENSP00000251582:R691C	R	-	1	0	ADAMTS2	178495530	1.000000	0.71417	0.999000	0.59377	0.548000	0.35241	5.446000	0.66600	2.521000	0.84997	0.462000	0.41574	CGC		0.637	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		7	242	0	0	0	1	0	7	242				
HERC2	8924	broad.mit.edu	37	15	28370319	28370319	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr15:28370319C>T	ENST00000261609.7	-	84	12931	c.12823G>A	c.(12823-12825)Gac>Aac	p.D4275N		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCATCATTGTCGCCCCATGTA	0.522																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(12823-12825)Gac>Aac		HECT and RLD domain containing E3 ubiquitin protein ligase 2							211.0	191.0	198.0					15																	28370319		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28370319C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12823G>A	15.37:g.28370319C>T	ENSP00000261609:p.Asp4275Asn						p.D4275N	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	84	12931	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4275						Missense_Mutation	SNP	ENST00000261609.7	37	c.12823G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	35	5.539421	0.96474	.	.	ENSG00000128731	ENST00000261609	D	0.84298	-1.83	5.19	5.19	0.71726	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.86924	0.6050	N	0.16833	0.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87797	0.2622	10	0.42905	T	0.14	.	18.7201	0.91689	0.0:1.0:0.0:0.0	.	4275	O95714	HERC2_HUMAN	N	4275	ENSP00000261609:D4275N	ENSP00000261609:D4275N	D	-	1	0	HERC2	26043914	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	7.808000	0.86044	2.408000	0.81797	0.655000	0.94253	GAC		0.522	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		29	1056	0	0	0	1	0	29	1056				
METTL3	56339	broad.mit.edu	37	14	21967676	21967676	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr14:21967676C>T	ENST00000298717.4	-	8	1563	c.1412G>A	c.(1411-1413)cGt>cAt	p.R471H		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	471					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		GTGACCTGTACGGCCTGTCCG	0.443																																						ENST00000298717.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1411-1413)cGt>cAt		methyltransferase like 3							168.0	158.0	161.0					14																	21967676		2203	4300	6503	SO:0001583	missense	56339				gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	g.chr14:21967676C>T	AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"""N6-adenosine-methyltransferase 70 kDa subunit"""	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.1412G>A	14.37:g.21967676C>T	ENSP00000298717:p.Arg471His						p.R471H	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)	8	1563	-	all_cancers(95;0.000628)		471					O14736|Q86V05|Q9HB32	Missense_Mutation	SNP	ENST00000298717.4	37	c.1412G>A	CCDS32044.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527083	0.85706	.	.	ENSG00000165819	ENST00000298717	T	0.43688	0.94	4.9	4.02	0.46733	.	0.000000	0.85682	D	0.000000	T	0.64681	0.2620	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69822	-0.5041	10	0.87932	D	0	-9.3172	12.3983	0.55397	0.0:0.9167:0.0:0.0833	.	471	Q86U44	MTA70_HUMAN	H	471	ENSP00000298717:R471H	ENSP00000298717:R471H	R	-	2	0	METTL3	21037516	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	7.059000	0.76684	1.300000	0.44818	0.460000	0.39030	CGT		0.443	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852		24	717	0	0	0	1	0	24	717				
ATM	472	broad.mit.edu	37	11	108178642	108178642	+	Missense_Mutation	SNP	G	G	A	rs370680798	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:108178642G>A	ENST00000452508.2	+	39	5882	c.5693G>A	c.(5692-5694)cGa>cAa	p.R1898Q	ATM_ENST00000278616.4_Missense_Mutation_p.R1898Q			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1898					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CACTTTTTCCGATGCTGTTTG	0.398			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			G|||	5	0.000998403	0.0	0.0	5008	,	,		19894	0.0		0.0	False		,,,				2504	0.0051					ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(5692-5694)cGa>cAa	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated		G	GLN/ARG	0,4402		0,0,2201	153.0	137.0	143.0		5693	4.1	0.2	11		143	1,8595	1.2+/-3.3	0,1,4297	no	missense	ATM	NM_000051.3	43	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	benign	1898/3057	108178642	1,12997	2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108178642G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5693G>A	11.37:g.108178642G>A	ENSP00000388058:p.Arg1898Gln	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.R1898Q	p.R1898Q	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	38	6078	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1898					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.5693G>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603627	0.28534	0.0	1.16E-4	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.74632	-0.86;-0.86	6.03	4.13	0.48395	Armadillo-type fold (1);	0.264244	0.39274	N	0.001409	T	0.59321	0.2185	L	0.45137	1.4	0.09310	N	1	B	0.15473	0.013	B	0.04013	0.001	T	0.40646	-0.9552	10	0.15066	T	0.55	.	4.5798	0.12253	0.2461:0.0:0.6011:0.1528	.	1898	Q13315	ATM_HUMAN	Q	1898	ENSP00000278616:R1898Q;ENSP00000388058:R1898Q	ENSP00000278616:R1898Q	R	+	2	0	ATM	107683852	0.891000	0.30450	0.169000	0.22859	0.982000	0.71751	2.079000	0.41577	0.831000	0.34780	0.655000	0.94253	CGA		0.398	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		6	151	0	0	0	1	0	6	151				
RAPGEF3	10411	broad.mit.edu	37	12	48144186	48144186	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr12:48144186C>T	ENST00000449771.2	-	7	782	c.694G>A	c.(694-696)Gag>Aag	p.E232K	RAPGEF3_ENST00000549151.1_Missense_Mutation_p.E190K|RAPGEF3_ENST00000549347.1_5'Flank|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.E190K|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.E232K|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.E190K|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.E190K|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.E232K			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	232	Interaction with PDE3B.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		AGGTCCAGCTCTTCATCCGTG	0.647																																						ENST00000405493.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25						c.(568-570)Gag>Aag		Rap guanine nucleotide exchange factor (GEF) 3							96.0	67.0	77.0					12																	48144186		2203	4300	6503	SO:0001583	missense	10411				regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	g.chr12:48144186C>T	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.694G>A	12.37:g.48144186C>T	ENSP00000395708:p.Glu232Lys					RAPGEF3_ENST00000395358.3_Missense_Mutation_p.E232K|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.E190K|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.E232K|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.E190K|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.E190K|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.E232K	p.E190K	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN		GBM - Glioblastoma multiforme(48;0.0375)	7	777	-	Lung SC(27;0.192)		190					A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	SNP	ENST00000449771.2	37	c.568G>A	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	C	32	5.106652	0.94292	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919;ENST00000395358;ENST00000466322	D;D;D;D;D;D;D;T	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;0.46	3.9	3.9	0.45041	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.058568	0.64402	D	0.000003	D	0.89378	0.6698	L	0.52011	1.625	0.80722	D	1	D;D;D	0.76494	0.999;0.995;0.991	D;D;P	0.68765	0.96;0.91;0.777	D	0.90439	0.4430	10	0.72032	D	0.01	.	15.7057	0.77580	0.0:1.0:0.0:0.0	.	244;232;232	B7Z5J6;O95398-2;O95398	.;.;RPGF3_HUMAN	K	190;232;190;190;190;232;244;190;232;190	ENSP00000384521:E190K;ENSP00000395708:E232K;ENSP00000448619:E190K;ENSP00000171000:E190K;ENSP00000373864:E232K;ENSP00000448480:E190K;ENSP00000378764:E232K;ENSP00000446731:E190K	ENSP00000171000:E190K	E	-	1	0	RAPGEF3	46430453	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.063000	0.76714	2.479000	0.83701	0.655000	0.94253	GAG		0.647	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105		6	147	0	0	0	1	0	6	147				
TBX22	50945	broad.mit.edu	37	X	79282761	79282761	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chrX:79282761A>G	ENST00000373294.5	+	6	833	c.805A>G	c.(805-807)Aaa>Gaa	p.K269E	TBX22_ENST00000373291.1_Missense_Mutation_p.K149E|TBX22_ENST00000373296.3_Missense_Mutation_p.K269E|TBX22_ENST00000442340.1_Missense_Mutation_p.K149E	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	269					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ATAGATTACGAAACTAAAAAT	0.348																																						ENST00000442340.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(445-447)Aaa>Gaa		T-box 22							37.0	36.0	36.0					X																	79282761		2203	4298	6501	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79282761A>G	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.805A>G	X.37:g.79282761A>G	ENSP00000362390:p.Lys269Glu					TBX22_ENST00000373294.5_Missense_Mutation_p.K269E|TBX22_ENST00000373296.3_Missense_Mutation_p.K269E|TBX22_ENST00000373291.1_Missense_Mutation_p.K149E	p.K149E	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN			7	935	+			269					Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.445A>G	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	A	17.84	3.487256	0.63962	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58	3.75	3.75	0.43078	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.91978	0.7459	L	0.58810	1.83	0.58432	D	0.999995	D	0.76494	0.999	D	0.72338	0.977	D	0.92101	0.5688	10	0.72032	D	0.01	.	10.8307	0.46659	1.0:0.0:0.0:0.0	.	269	Q9Y458	TBX22_HUMAN	E	269;149;269;149	ENSP00000362393:K269E;ENSP00000396394:K149E;ENSP00000362390:K269E;ENSP00000362388:K149E	ENSP00000362388:K149E	K	+	1	0	TBX22	79169417	1.000000	0.71417	0.998000	0.56505	0.691000	0.40173	6.266000	0.72540	1.495000	0.48549	0.486000	0.48141	AAA		0.348	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		7	110	0	0	0	1	0	7	110				
CDON	50937	broad.mit.edu	37	11	125893363	125893363	+	Silent	SNP	C	C	T	rs113593771	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:125893363C>T	ENST00000392693.3	-	2	136	c.9G>A	c.(7-9)ccG>ccA	p.P3P	CDON_ENST00000263577.7_Silent_p.P3P	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	3					anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GTCCAAGATCCGGATGCATAG	0.443													C|||	55	0.0109824	0.0408	0.0	5008	,	,		19256	0.0		0.001	False		,,,				2504	0.0					ENST00000392693.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(7-9)ccG>ccA		cell adhesion associated, oncogene regulated		C		146,4256	101.2+/-139.8	3,140,2058	111.0	107.0	109.0		9	-4.6	0.1	11	dbSNP_132	109	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	CDON	NM_016952.4		3,141,6356	TT,TC,CC		0.0116,3.3167,1.1308		3/1265	125893363	147,12853	2201	4299	6500	SO:0001819	synonymous_variant	50937				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	g.chr11:125893363C>T	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.9G>A	11.37:g.125893363C>T						CDON_ENST00000263577.7_Silent_p.P3P	p.P3P	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	2	136	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	3					O14631	Silent	SNP	ENST00000392693.3	37	c.9G>A	CCDS58192.1																																																																																				0.443	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		5	403	0	0	0	1	0	5	403				
ALS2	57679	broad.mit.edu	37	2	202606452	202606452	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:202606452C>T	ENST00000264276.6	-	11	2668	c.2296G>A	c.(2296-2298)Gcc>Acc	p.A766T	ALS2_ENST00000457679.2_Missense_Mutation_p.A78T	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	766	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AAACTCCTGGCTTCCTTTACC	0.488																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(2296-2298)Gcc>Acc		amyotrophic lateral sclerosis 2 (juvenile)							69.0	67.0	68.0					2																	202606452		1931	4153	6084	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202606452C>T	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.2296G>A	2.37:g.202606452C>T	ENSP00000264276:p.Ala766Thr					ALS2_ENST00000457679.2_Missense_Mutation_p.A78T	p.A766T	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			11	2668	-			766			DH.		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.2296G>A	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760467	0.69763	.	.	ENSG00000003393	ENST00000264276;ENST00000457679	T;T	0.63255	-0.03;-0.03	5.97	5.09	0.68999	Dbl homology (DH) domain (4);	0.178064	0.49305	D	0.000148	T	0.69557	0.3124	L	0.27053	0.805	0.41489	D	0.988215	D;D;B	0.89917	1.0;0.97;0.146	D;P;B	0.87578	0.998;0.801;0.326	T	0.73316	-0.4021	10	0.54805	T	0.06	.	16.6047	0.84825	0.1313:0.8687:0.0:0.0	.	766;766;766	Q96Q42-3;Q6IQ41;Q96Q42	.;.;ALS2_HUMAN	T	766;78	ENSP00000264276:A766T;ENSP00000394823:A78T	ENSP00000264276:A766T	A	-	1	0	ALS2	202314697	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.060000	0.49955	1.515000	0.48885	-0.182000	0.12963	GCC		0.488	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		8	200	0	0	0	1	0	8	200				
KRTAP5-8	57830	broad.mit.edu	37	11	71249558	71249558	+	Missense_Mutation	SNP	T	T	A	rs374587723		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:71249558T>A	ENST00000398534.3	+	1	488	c.457T>A	c.(457-459)Tgc>Agc	p.C153S		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	153	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TAAGCCCTGCTGCTGCTCTTC	0.602																																						ENST00000398534.3																			0				cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						c.(457-459)Tgc>Agc		keratin associated protein 5-8							176.0	180.0	178.0					11																	71249558		2200	4294	6494	SO:0001583	missense	57830					extracellular region|keratin filament	structural constituent of epidermis	g.chr11:71249558T>A	AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"""Keratin associated proteins"""	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.457T>A	11.37:g.71249558T>A	ENSP00000420723:p.Cys153Ser						p.C153S	NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN			1	488	+			153			9 X 4 AA repeats of C-C-X-P.		Q6L8G7|Q6UTX6	Missense_Mutation	SNP	ENST00000398534.3	37	c.457T>A	CCDS41683.1	.	.	.	.	.	.	.	.	.	.	-	12.36	1.913624	0.33815	.	.	ENSG00000241233	ENST00000398534	T	0.01767	4.65	1.63	0.358	0.16084	.	.	.	.	.	T	0.04003	0.0112	M	0.90252	3.1	0.24313	N	0.995073	B	0.02656	0.0	B	0.06405	0.002	T	0.27434	-1.0074	9	0.52906	T	0.07	.	4.9425	0.13973	0.2691:0.0:0.0:0.7308	.	153	O75690	KRA58_HUMAN	S	153	ENSP00000420723:C153S	ENSP00000420723:C153S	C	+	1	0	KRTAP5-8	70927206	0.006000	0.16342	0.812000	0.32479	0.182000	0.23217	0.150000	0.16263	0.076000	0.16826	0.459000	0.35465	TGC		0.602	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		11	1189	0	0	0	1	0	11	1189				
PPM1L	151742	broad.mit.edu	37	3	160783197	160783197	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr3:160783197C>T	ENST00000498165.1	+	3	682	c.581C>T	c.(580-582)aCg>aTg	p.T194M	PPM1L_ENST00000464260.1_Missense_Mutation_p.T15M|PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000295839.9_Missense_Mutation_p.T67M	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	194	PP2C-like.				MAPK cascade (GO:0000165)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.T194K(1)|p.T15K(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TCAGGCACAACGTGTTTGATT	0.478																																					Pancreas(86;250 1994 13715 43211)	ENST00000498165.1																			2	Substitution - Missense(2)	p.T194K(1)|p.T15K(1)	endometrium(2)	breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(580-582)aCg>aTg		protein phosphatase, Mg2+/Mn2+ dependent, 1L							89.0	94.0	92.0					3																	160783197		2203	4300	6503	SO:0001583	missense	151742				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr3:160783197C>T	AK055115	CCDS33886.1	3q26.1	2012-04-17	2010-03-05		ENSG00000163590	ENSG00000163590	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	16381	protein-coding gene	gene with protein product	"""PP2Cepsilon"", ""Protein phosphatase 2C epsilon isoform"""	611931	"""protein phosphatase 1 (formerly 2C)-like"""			12556533	Standard	XM_006713507		Approved	PP2CE	uc003fdr.3	Q5SGD2	OTTHUMG00000159048	ENST00000498165.1:c.581C>T	3.37:g.160783197C>T	ENSP00000417659:p.Thr194Met					PPM1L_ENST00000295839.9_Missense_Mutation_p.T67M|PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000464260.1_Missense_Mutation_p.T15M	p.T194M	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		3	682	+			194			PP2C-like.		Q2M3J2|Q96NM7	Missense_Mutation	SNP	ENST00000498165.1	37	c.581C>T	CCDS33886.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144990	0.77888	.	.	ENSG00000163590	ENST00000498165;ENST00000464260;ENST00000295839	T;T;T	0.30981	1.51;1.51;1.51	5.12	5.12	0.69794	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.73377	0.3579	H	0.99011	4.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84979	0.0887	10	0.87932	D	0	.	17.7238	0.88359	0.0:1.0:0.0:0.0	.	67;194	Q5SGD2-3;Q5SGD2	.;PPM1L_HUMAN	M	194;15;67	ENSP00000417659:T194M;ENSP00000420746:T15M;ENSP00000295839:T67M	ENSP00000295839:T67M	T	+	2	0	PPM1L	162265891	1.000000	0.71417	0.986000	0.45419	0.575000	0.36095	7.298000	0.78815	2.681000	0.91329	0.561000	0.74099	ACG		0.478	PPM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353019.1	NM_139245		9	415	0	0	0	1	0	9	415				
GRID2	2895	broad.mit.edu	37	4	93511323	93511323	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:93511323T>C	ENST00000282020.4	+	2	388	c.130T>C	c.(130-132)Ttt>Ctt	p.F44L	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.F44L	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	44					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TGATGAGGTATTTCGCACTGC	0.383																																						ENST00000282020.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(130-132)Ttt>Ctt		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						120.0	115.0	117.0					4																	93511323		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:93511323T>C	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.130T>C	4.37:g.93511323T>C	ENSP00000282020:p.Phe44Leu					GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.F44L	p.F44L	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	2	388	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	44					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.130T>C	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.232293	0.79688	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	D;D	0.85411	-1.7;-1.98	5.83	5.83	0.93111	Extracellular ligand-binding receptor (1);	0.370342	0.23413	N	0.048445	D	0.88683	0.6503	L	0.34521	1.04	0.37505	D	0.916902	P;D	0.57257	0.924;0.979	P;D	0.74023	0.878;0.982	D	0.91209	0.4997	10	0.87932	D	0	.	16.194	0.82011	0.0:0.0:0.0:1.0	.	44;44	E9PH24;O43424	.;GRID2_HUMAN	L	44	ENSP00000282020:F44L;ENSP00000421257:F44L	ENSP00000282020:F44L	F	+	1	0	GRID2	93730346	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	2.225000	0.72522	0.460000	0.39030	TTT		0.383	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			6	420	0	0	0	1	0	6	420				
RGS22	26166	broad.mit.edu	37	8	101083654	101083654	+	Silent	SNP	A	A	G			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr8:101083654A>G	ENST00000360863.6	-	6	731	c.537T>C	c.(535-537)ccT>ccC	p.P179P	RGS22_ENST00000523437.1_Silent_p.P179P|RGS22_ENST00000523287.1_Intron	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	179					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTTCAGTGGCAGGAGGTGGTA	0.398																																						ENST00000360863.6																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(535-537)ccT>ccC		regulator of G-protein signaling 22							164.0	140.0	148.0					8																	101083654		1845	4093	5938	SO:0001819	synonymous_variant	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101083654A>G	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.537T>C	8.37:g.101083654A>G						RGS22_ENST00000523437.1_Silent_p.P179P|RGS22_ENST00000523287.1_Intron	p.P179P	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		6	731	-			179					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Silent	SNP	ENST00000360863.6	37	c.537T>C	CCDS43758.1																																																																																				0.398	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		8	412	0	0	0	1	0	8	412				
KRT33A	3883	broad.mit.edu	37	17	39506938	39506938	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:39506938C>T	ENST00000007735.3	-	1	126	c.82G>A	c.(82-84)Ggc>Agc	p.G28S		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	28	Head.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				AGGGTGCAGCCGTGGCAGCTG	0.642																																						ENST00000007735.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(82-84)Ggc>Agc		keratin 33A							35.0	40.0	38.0					17																	39506938		2196	4300	6496	SO:0001583	missense	3883					intermediate filament	protein binding|structural molecule activity	g.chr17:39506938C>T	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6450	protein-coding gene	gene with protein product	"""hard keratin type I 3I"""	602761	"""keratin, hair, acidic, 3A"""	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.82G>A	17.37:g.39506938C>T	ENSP00000007735:p.Gly28Ser						p.G28S	NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN			1	126	-		Breast(137;0.000496)	28			Head.		B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	ENST00000007735.3	37	c.82G>A	CCDS11388.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.552601	0.27739	.	.	ENSG00000006059	ENST00000007735	D	0.81579	-1.51	5.09	-4.82	0.03171	.	0.804604	0.11801	N	0.528143	T	0.62097	0.2400	N	0.12746	0.255	0.09310	N	1	B	0.16166	0.016	B	0.11329	0.006	T	0.40887	-0.9539	10	0.33940	T	0.23	.	14.4405	0.67314	0.0:0.8319:0.0:0.1681	.	28	O76009	KT33A_HUMAN	S	28	ENSP00000007735:G28S	ENSP00000007735:G28S	G	-	1	0	KRT33A	36760464	0.000000	0.05858	0.002000	0.10522	0.875000	0.50365	-0.320000	0.08028	-0.820000	0.04318	-0.262000	0.10625	GGC		0.642	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138		8	318	0	0	0	1	0	8	318				
PCDHA1	56147	broad.mit.edu	37	5	140167494	140167494	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr5:140167494C>T	ENST00000504120.2	+	1	1619	c.1619C>T	c.(1618-1620)gCg>gTg	p.A540V	PCDHA1_ENST00000378133.3_Missense_Mutation_p.A540V|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	540	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGGGATGCGGGCGTGCCG	0.682																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1618-1620)gCg>gTg									62.0	67.0	66.0					5																	140167494		2203	4298	6501	SO:0001583	missense	0							g.chr5:140167494C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1619C>T	5.37:g.140167494C>T	ENSP00000420840:p.Ala540Val					PCDHA1_ENST00000378133.3_Missense_Mutation_p.A540V|PCDHA1_ENST00000394633.3_Intron	p.A540V	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1619	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1619C>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	18.40	3.615636	0.66672	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.53857	0.6;0.6	3.49	3.49	0.39957	Cadherin (4);Cadherin-like (1);	0.404731	0.17581	U	0.169114	T	0.62575	0.2439	L	0.53617	1.68	0.31041	N	0.71635	D;D	0.67145	0.995;0.996	P;P	0.56343	0.783;0.796	T	0.68697	-0.5340	10	0.87932	D	0	.	15.4054	0.74874	0.0:1.0:0.0:0.0	.	540;540	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	V	540	ENSP00000420840:A540V;ENSP00000367373:A540V	ENSP00000367373:A540V	A	+	2	0	PCDHA1	140147678	0.462000	0.25791	0.953000	0.39169	0.396000	0.30629	0.881000	0.28173	1.676000	0.50930	0.549000	0.68633	GCG		0.682	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		23	520	0	0	0	1	0	23	520				
DGKA	1606	broad.mit.edu	37	12	56333270	56333270	+	Silent	SNP	C	C	T	rs372105083		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr12:56333270C>T	ENST00000331886.5	+	9	1120	c.666C>T	c.(664-666)tgC>tgT	p.C222C	DGKA_ENST00000394147.1_Silent_p.C222C|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Silent_p.C222C	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	222					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GCAATCTGTGCGAGTCAAGCA	0.557																																						ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.(664-666)tgC>tgT		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)	C	,,,	0,4406		0,0,2203	173.0	157.0	163.0		666,666,666,666	2.1	1.0	12		163	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DGKA	NM_001345.4,NM_201444.2,NM_201445.1,NM_201554.1	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	222/736,222/736,222/736,222/736	56333270	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56333270C>T	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.666C>T	12.37:g.56333270C>T						DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Silent_p.C222C|DGKA_ENST00000551156.1_Silent_p.C222C	p.C222C	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN			9	1120	+			222					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Silent	SNP	ENST00000331886.5	37	c.666C>T	CCDS8896.1																																																																																				0.557	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			6	585	0	0	0	1	0	6	585				
OBSCN	84033	broad.mit.edu	37	1	228400270	228400270	+	Silent	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:228400270C>T	ENST00000422127.1	+	2	830	c.786C>T	c.(784-786)acC>acT	p.T262T	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.T262T|OBSCN_ENST00000570156.2_Silent_p.T262T|OBSCN_ENST00000366709.4_5'UTR|C1orf145_ENST00000295012.5_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	262	Ig-like 3.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTACGTGACCGGCGAGCCCA	0.711																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(784-786)acC>acT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							39.0	47.0	44.0					1																	228400270		2142	4224	6366	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228400270C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.786C>T	1.37:g.228400270C>T						C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000422127.1_Silent_p.T262T|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.T262T	p.T262T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			2	860	+		Prostate(94;0.0405)	262			Ig-like 3.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.786C>T	CCDS58065.1																																																																																				0.711	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		6	320	0	0	0	1	0	6	320				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			6	195	0	0	0	1	0	6	195				
ALKBH1	8846	broad.mit.edu	37	14	78174236	78174236	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr14:78174236C>T	ENST00000216489.3	-	1	127	c.112G>A	c.(112-114)Gca>Aca	p.A38T	SLIRP_ENST00000238688.5_5'Flank|SLIRP_ENST00000557623.1_5'Flank|SLIRP_ENST00000557342.1_5'Flank|SLIRP_ENST00000557431.1_5'Flank	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	38					developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TCCAGGTCTGCGGTCCCGGGC	0.672																																						ENST00000216489.3																			0				endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						c.(112-114)Gca>Aca		alkB, alkylation repair homolog 1 (E. coli)							36.0	39.0	38.0					14																	78174236		2198	4300	6498	SO:0001583	missense	8846				DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr14:78174236C>T	X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"""Alkylation repair homologs"""	17911	protein-coding gene	gene with protein product		605345	"""alkB, alkylation repair homolog (E. coli)"""	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.112G>A	14.37:g.78174236C>T	ENSP00000216489:p.Ala38Thr						p.A38T	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	1	127	-			38					Q8TAU1|Q9ULA7	Missense_Mutation	SNP	ENST00000216489.3	37	c.112G>A	CCDS32127.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892759	0.52121	.	.	ENSG00000100601	ENST00000216489	T	0.31510	1.49	5.96	1.95	0.26073	.	0.343898	0.33792	N	0.004541	T	0.17662	0.0424	M	0.62723	1.935	0.09310	N	1	P	0.42161	0.772	B	0.27262	0.078	T	0.17198	-1.0377	10	0.22109	T	0.4	-9.2796	2.0609	0.03592	0.1977:0.4796:0.1109:0.2118	.	38	Q13686	ALKB1_HUMAN	T	38	ENSP00000216489:A38T	ENSP00000216489:A38T	A	-	1	0	ALKBH1	77243989	0.011000	0.17503	0.035000	0.18076	0.797000	0.45037	-0.010000	0.12743	0.423000	0.26033	0.655000	0.94253	GCA		0.672	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414037.1	NM_006020		5	342	0	0	0	1	0	5	342				
F5	2153	broad.mit.edu	37	1	169510502	169510502	+	Missense_Mutation	SNP	G	G	T	rs140018525		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:169510502G>T	ENST00000367797.3	-	13	4027	c.3826C>A	c.(3826-3828)Ctt>Att	p.L1276I	F5_ENST00000367796.3_Missense_Mutation_p.L1281I	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1276	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TCTGGAGAAAGGGGCATCTGA	0.502													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20915	0.0		0.0	False		,,,				2504	0.0					ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(3841-3843)Ctt>Att		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						219.0	233.0	228.0					1																	169510502		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510502G>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3826C>A	1.37:g.169510502G>T	ENSP00000356771:p.Leu1276Ile					F5_ENST00000367797.3_Missense_Mutation_p.L1276I	p.L1281I			P12259	FA5_HUMAN			13	4042	-	all_hematologic(923;0.208)		1276			35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3841C>A	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987829	0.35036	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.36520	1.25;1.25	4.13	-2.91	0.05631	.	.	.	.	.	T	0.13798	0.0334	M	0.62723	1.935	0.09310	N	0.999999	P	0.37061	0.58	B	0.35114	0.196	T	0.16778	-1.0391	8	0.22706	T	0.39	-2.9938	9.7911	0.40706	0.642:0.0:0.358:0.0	.	1276	P12259	FA5_HUMAN	I	1276;1281	ENSP00000356771:L1276I;ENSP00000356770:L1281I	ENSP00000356770:L1281I	L	-	1	0	F5	167777126	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.767000	0.04720	-0.412000	0.07519	-0.364000	0.07487	CTT		0.502	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		11	1207	1	0	1.5842e-08	1	1.67661e-08	11	1207				
ARHGEF12	23365	broad.mit.edu	37	11	120352231	120352231	+	Silent	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:120352231G>A	ENST00000397843.2	+	39	4666	c.4500G>A	c.(4498-4500)caG>caA	p.Q1500Q	ARHGEF12_ENST00000532993.1_Silent_p.Q1397Q|ARHGEF12_ENST00000356641.3_Silent_p.Q1481Q	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1500					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|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)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CAGATTCACAGAGCCAGATCA	0.458			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.(4498-4500)caG>caA		Rho guanine nucleotide exchange factor (GEF) 12							83.0	85.0	85.0					11																	120352231		1950	4148	6098	SO:0001819	synonymous_variant	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120352231G>A	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.4500G>A	11.37:g.120352231G>A						ARHGEF12_ENST00000356641.3_Silent_p.Q1481Q|ARHGEF12_ENST00000532993.1_Silent_p.Q1397Q	p.Q1500Q	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	39	4666	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	1500					O15086|Q6P526	Silent	SNP	ENST00000397843.2	37	c.4500G>A	CCDS41727.1																																																																																				0.458	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		10	343	0	0	0	1	0	10	343				
TUBB8P7	197331	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G	rs567602838	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		CTAGGTAAAGTGGGGAAGCAG	0.483													.|||	3	0.000599042	0.0015	0.0	5008	,	,		21669	0.0		0.0	False		,,,				2504	0.001					ENST00000564451.1																			0																																																			0							g.chr16:90162620T>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162620T>G														0	1973	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.483	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		6	549	0	0	0	1	0	6	549				
OR6K6	128371	broad.mit.edu	37	1	158725052	158725052	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:158725052C>A	ENST00000368144.2	+	1	543	c.447C>A	c.(445-447)gaC>gaA	p.D149E		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	149						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(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TGGCCATTGACAGGTACATAG	0.488																																						ENST00000368144.2																			0				endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(445-447)gaC>gaA		olfactory receptor, family 6, subfamily K, member 6							104.0	90.0	95.0					1																	158725052		2203	4300	6503	SO:0001583	missense	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158725052C>A	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.447C>A	1.37:g.158725052C>A	ENSP00000357126:p.Asp149Glu						p.D149E	NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN			1	543	+	all_hematologic(112;0.0378)		149					B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	c.447C>A	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468380	0.63625	.	.	ENSG00000180433	ENST00000368144	T	0.17691	2.26	5.48	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000274	T	0.45895	0.1365	H	0.98446	4.235	0.33370	D	0.573409	D	0.89917	1.0	D	0.91635	0.999	T	0.65586	-0.6132	10	0.87932	D	0	-17.8001	8.5251	0.33300	0.0:0.8144:0.0:0.1856	.	149	Q8NGW6	OR6K6_HUMAN	E	149	ENSP00000357126:D149E	ENSP00000357126:D149E	D	+	3	2	OR6K6	156991676	0.985000	0.35326	1.000000	0.80357	0.885000	0.51271	0.581000	0.23819	1.463000	0.47967	0.655000	0.94253	GAC		0.488	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		9	302	1	0	0.00448238	1	0.00459083	9	302				
PCDHGA3	56112	broad.mit.edu	37	5	140723837	140723837	+	Silent	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr5:140723837G>A	ENST00000253812.6	+	1	237	c.237G>A	c.(235-237)ccG>ccA	p.P79P	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	79	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.		P -> S (in dbSNP:rs11575947).		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGAATCCGCAAAGCGGCA	0.587											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000253812.6																			0				breast(1)	1						c.(235-237)ccG>ccA									55.0	65.0	62.0					5																	140723837		2171	4291	6462	SO:0001819	synonymous_variant	0							g.chr5:140723837G>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.237G>A	5.37:g.140723837G>A			OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.P79P	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	237	+								Q9Y5D4	Silent	SNP	ENST00000253812.6	37	c.237G>A	CCDS47290.1																																																																																				0.587	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		6	581	0	0	0	1	0	6	581				
ZNF57	126295	broad.mit.edu	37	19	2917793	2917793	+	Missense_Mutation	SNP	T	T	C	rs556398595		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:2917793T>C	ENST00000306908.5	+	4	1322	c.1174T>C	c.(1174-1176)Tat>Cat	p.Y392H	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.Y360H	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	392					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGCAGCTCTATAAATGTGA	0.438													T|||	1	0.000199681	0.0	0.0	5008	,	,		22251	0.0		0.0	False		,,,				2504	0.001				NSCLC(150;910 1964 4303 10464 26498)	ENST00000306908.5																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1174-1176)Tat>Cat		zinc finger protein 57							92.0	83.0	86.0					19																	2917793		2203	4300	6503	SO:0001583	missense	126295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2917793T>C	M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"""Zinc fingers, C2H2-type"", ""-"""	13125	protein-coding gene	gene with protein product			"""zinc finger protein 424"""	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.1174T>C	19.37:g.2917793T>C	ENSP00000303696:p.Tyr392His					ZNF57_ENST00000523428.1_Missense_Mutation_p.Y360H|AC006277.2_ENST00000520090.2_RNA	p.Y392H	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1322	+			392					Q8N6R9	Missense_Mutation	SNP	ENST00000306908.5	37	c.1174T>C	CCDS12098.1	.	.	.	.	.	.	.	.	.	.	T	7.747	0.702611	0.15172	.	.	ENSG00000171970	ENST00000306908;ENST00000395204;ENST00000523428	T;T	0.21734	1.99;1.99	2.25	-0.158	0.13383	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29190	0.0726	L	0.43152	1.355	0.09310	N	1	D	0.69078	0.997	D	0.68353	0.957	T	0.13899	-1.0492	9	0.62326	D	0.03	.	2.898	0.05697	0.2162:0.1411:0.0:0.6427	.	392	Q68EA5	ZNF57_HUMAN	H	392;394;360	ENSP00000303696:Y392H;ENSP00000430223:Y360H	ENSP00000303696:Y392H	Y	+	1	0	ZNF57	2868793	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.028000	0.30128	-0.267000	0.09325	-0.443000	0.05667	TAT		0.438	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1	NM_173480		5	412	0	0	0	1	0	5	412				
STAB1	23166	broad.mit.edu	37	3	52544021	52544021	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr3:52544021C>T	ENST00000321725.6	+	23	2559	c.2483C>T	c.(2482-2484)gCc>gTc	p.A828V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	828	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACAGGGCTGGCCCAGCACTGC	0.662																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(2482-2484)gCc>gTc		stabilin 1							58.0	62.0	60.0					3																	52544021		2203	4298	6501	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52544021C>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.2483C>T	3.37:g.52544021C>T	ENSP00000312946:p.Ala828Val						p.A828V	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	23	2559	+			828			EGF-like 6.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.2483C>T	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	7.895	0.733050	0.15507	.	.	ENSG00000010327	ENST00000321725	T	0.03124	4.04	4.7	4.7	0.59300	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.456341	0.21799	N	0.068955	T	0.03520	0.0101	L	0.38838	1.175	0.31954	N	0.609253	P	0.46142	0.873	B	0.35931	0.214	T	0.39418	-0.9615	10	0.11182	T	0.66	.	17.4369	0.87555	0.0:1.0:0.0:0.0	.	828	Q9NY15	STAB1_HUMAN	V	828	ENSP00000312946:A828V	ENSP00000312946:A828V	A	+	2	0	STAB1	52519061	0.518000	0.26234	0.857000	0.33713	0.553000	0.35397	3.120000	0.50430	2.447000	0.82792	0.655000	0.94253	GCC		0.662	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		5	367	0	0	0	1	0	5	367				
TMCC1	23023	broad.mit.edu	37	3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1693-1695)cAg>cTg		transmembrane and coiled-coil domain family 1							79.0	76.0	77.0					3																	129370592		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129370592T>A	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1694A>T	3.37:g.129370592T>A	ENSP00000376930:p.Gln565Leu					TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	p.Q565L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			6	2034	-			565					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.1694A>T	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.009576	0.75046	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	L	0.46614	1.455	0.80722	D	1	D;D	0.67145	0.996;0.985	D;D	0.85130	0.997;0.973	T	0.58278	-0.7664	10	0.33940	T	0.23	-18.4911	15.1509	0.72696	0.0:0.0:0.0:1.0	.	386;565	B4DE04;O94876	.;TMCC1_HUMAN	L	241;565;451;386	ENSP00000404711:Q241L;ENSP00000376930:Q565L;ENSP00000389892:Q451L;ENSP00000327349:Q386L	ENSP00000327349:Q386L	Q	-	2	0	TMCC1	130853282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.735000	0.84939	2.172000	0.68678	0.533000	0.62120	CAG		0.572	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		5	349	0	0	0	1	0	5	349				
RICTOR	253260	broad.mit.edu	37	5	38954899	38954899	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr5:38954899C>T	ENST00000357387.3	-	27	2704	c.2674G>A	c.(2674-2676)Ggc>Agc	p.G892S	RICTOR_ENST00000296782.5_Missense_Mutation_p.G892S|RICTOR_ENST00000503698.1_5'UTR	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AAATGGCAGCCTGTTTTATGG	0.313																																						ENST00000357387.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75						c.(2674-2676)Ggc>Agc		RPTOR independent companion of MTOR, complex 2							117.0	116.0	116.0					5																	38954899		2203	4300	6503	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38954899C>T		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.2674G>A	5.37:g.38954899C>T	ENSP00000349959:p.Gly892Ser					RICTOR_ENST00000296782.5_Missense_Mutation_p.G892S|RICTOR_ENST00000503698.1_5'UTR	p.G892S	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN			27	2704	-	all_lung(31;0.000396)		892						Missense_Mutation	SNP	ENST00000357387.3	37	c.2674G>A	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	35	5.531120	0.96446	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.66460	-0.21;-0.17	5.79	5.79	0.91817	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84356	0.5454	M	0.84219	2.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.85682	0.1301	10	0.87932	D	0	-9.9909	20.0308	0.97536	0.0:1.0:0.0:0.0	.	892;892	Q6R327;Q6R327-3	RICTR_HUMAN;.	S	892	ENSP00000349959:G892S;ENSP00000296782:G892S	ENSP00000296782:G892S	G	-	1	0	RICTOR	38990656	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.707000	0.74654	2.732000	0.93576	0.585000	0.79938	GGC		0.313	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		13	523	0	0	0	1	0	13	523				
MAGEA12	4111	broad.mit.edu	37	X	151896589	151896589	+	IGR	SNP	C	C	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chrX:151896589C>A	ENST00000357916.4	-	0	1664				CSAG4_ENST00000361201.4_RNA	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12									p.L11F(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTGTTGGACAATGGGCTGG	0.557																																						ENST00000361201.4																			1	Substitution - Missense(1)	p.L11F(1)	kidney(1)	endometrium(2)|kidney(2)|lung(1)	5																																												SO:0001628	intergenic_variant	0							g.chrX:151896589C>A		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650		X.37:g.151896589C>A								NR_073432.1						0	351	-								Q9NSD3	RNA	SNP	ENST00000357916.4	37		CCDS14710.1																																																																																				0.557	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		16	370	1	0	0.000132079	1	0.000136374	16	370				
CEP170P1	645455	broad.mit.edu	37	4	119461457	119461457	+	RNA	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:119461457C>T	ENST00000412784.2	+	0	354					NR_003135.2		Q96L14	C170L_HUMAN	centrosomal protein 170kDa pseudogene 1								identical protein binding (GO:0042802)										AAGGAAACAACGGTCGATCTG	0.443																																						ENST00000412784.2																			0																																																			0							g.chr4:119461457C>T	BC014590		4q26	2010-10-11	2010-10-11	2010-10-11	ENSG00000154608	ENSG00000154608			28364	pseudogene	pseudogene			"""KIAA0470-like"", ""centrosomal protein 170kDa-like"""	KIAA0470L, CEP170L			Standard	NR_003135		Approved	MGC26143, FAM68B	uc003icb.3	Q96L14	OTTHUMG00000132958		4.37:g.119461457C>T								NR_003135.2						0	354	+									RNA	SNP	ENST00000412784.2	37																																																																																						0.443	CEP170P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000364033.2	NR_003135.2		6	170	0	0	0	1	0	6	170				
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W	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	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCTGTGCGCCGGTCTCTCCCA	0.557		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"""		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83.0	71.0	75.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	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.chr17:7577094G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R282W	p.R282W	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	976	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).	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.844C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	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	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		8	166	0	0	0	1	0	8	166				
TXNDC2	84203	broad.mit.edu	37	18	9886894	9886894	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr18:9886894A>G	ENST00000306084.6	+	2	617	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000357775.5_Missense_Mutation_p.K73E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	140	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)	p.K140E(2)|p.K73E(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAAAAGCCATCCA	0.547																																						ENST00000306084.6																			4	Substitution - Missense(4)	p.K140E(2)|p.K73E(2)	urinary_tract(2)|lung(2)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(418-420)Aaa>Gaa		thioredoxin domain containing 2 (spermatozoa)							133.0	131.0	132.0					18																	9886894		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9886894A>G	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.418A>G	18.37:g.9886894A>G	ENSP00000304908:p.Lys140Glu					TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E|TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000584255.1_3'UTR	p.K140E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	617	+			140			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.418A>G	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	a	8.625	0.892206	0.17613	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T;T	0.20069	2.1;2.3;2.3	3.48	-6.96	0.01622	.	1.199930	0.06365	N	0.712409	T	0.12774	0.0310	L	0.35854	1.095	0.09310	N	1	B	0.25048	0.117	B	0.25884	0.064	T	0.32693	-0.9897	9	.	.	.	.	5.8007	0.18412	0.5013:0.2415:0.2572:0.0	.	140	Q86VQ3	TXND2_HUMAN	E	73;73;140;140	ENSP00000437393:K73E;ENSP00000350419:K73E;ENSP00000304908:K140E	.	K	+	1	0	TXNDC2	9876894	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.892000	0.04131	-1.042000	0.03262	-1.380000	0.01176	AAA		0.547	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			6	644	0	0	0	1	0	6	644				
PRG4	10216	broad.mit.edu	37	1	186275982	186275982	+	Silent	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:186275982C>T	ENST00000445192.2	+	7	1176	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367484.3_Silent_p.T336T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	377	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						CACCCACCACCCCCAAGGAGC	0.637																																						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.(1129-1131)acC>acT		proteoglycan 4							171.0	164.0	166.0					1																	186275982		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186275982C>T	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.1131C>T	1.37:g.186275982C>T						PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367484.3_Silent_p.T336T	p.T377T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1176	+			377			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1131C>T	CCDS1369.1																																																																																				0.637	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		8	584	0	0	0	1	0	8	584				
HRC	3270	broad.mit.edu	37	19	49657755	49657755	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:49657755T>C	ENST00000252825.4	-	1	926	c.740A>G	c.(739-741)gAc>gGc	p.D247G	HRC_ENST00000595625.1_Missense_Mutation_p.D247G	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	247	4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Asp-rich (acidic).				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		atcatcatcgtcatcttcttc	0.507																																					Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.(739-741)gAc>gGc		histidine rich calcium binding protein							127.0	92.0	104.0					19																	49657755		2203	4300	6503	SO:0001583	missense	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49657755T>C		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.740A>G	19.37:g.49657755T>C	ENSP00000252825:p.Asp247Gly					HRC_ENST00000595625.1_Missense_Mutation_p.D247G	p.D247G	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	926	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	247			4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Asp-rich (acidic).		Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	c.740A>G	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	t	7.560	0.664495	0.14710	.	.	ENSG00000130528	ENST00000252825;ENST00000434964	T	0.09350	2.99	3.17	2.14	0.27477	.	.	.	.	.	T	0.06735	0.0172	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43245	-0.9403	9	0.21014	T	0.42	.	6.7695	0.23587	0.0:0.1232:0.0:0.8768	.	247	P23327	SRCH_HUMAN	G	247;217	ENSP00000252825:D247G	ENSP00000252825:D247G	D	-	2	0	HRC	54349567	0.000000	0.05858	0.003000	0.11579	0.059000	0.15707	-0.119000	0.10676	0.258000	0.21686	-0.758000	0.03466	GAC		0.507	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		4	117	0	0	0	1	0	4	117				
PDHA2	5161	broad.mit.edu	37	4	96762083	96762083	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:96762083G>A	ENST00000295266.4	+	1	845	c.782G>A	c.(781-783)cGt>cAt	p.R261H		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	261					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)		CTGTGTGTTCGTGAGGCAACA	0.473																																						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.(781-783)cGt>cAt		pyruvate dehydrogenase (lipoamide) alpha 2	NADH(DB00157)						148.0	147.0	147.0					4																	96762083		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96762083G>A		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.782G>A	4.37:g.96762083G>A	ENSP00000295266:p.Arg261His						p.R261H	NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	845	+		Hepatocellular(203;0.114)	261					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.782G>A	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635923	0.67130	.	.	ENSG00000163114	ENST00000295266	D	0.95885	-3.84	4.91	4.06	0.47325	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.96346	0.8808	L	0.53561	1.675	0.53005	D	0.999965	D	0.89917	1.0	D	0.91635	0.999	D	0.95644	0.8701	10	0.87932	D	0	-18.3149	11.0734	0.48016	0.0921:0.0:0.9079:0.0	.	261	P29803	ODPAT_HUMAN	H	261	ENSP00000295266:R261H	ENSP00000295266:R261H	R	+	2	0	PDHA2	96981106	0.848000	0.29623	0.782000	0.31804	0.637000	0.38172	4.724000	0.61972	2.733000	0.93635	0.467000	0.42956	CGT		0.473	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			5	237	0	0	0	1	0	5	237				
PACS1	55690	broad.mit.edu	37	11	66009102	66009102	+	Silent	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:66009102C>T	ENST00000320580.4	+	22	2667	c.2634C>T	c.(2632-2634)gtC>gtT	p.V878V	PACS1_ENST00000529757.1_Silent_p.V414V|PACS1_ENST00000524815.1_Silent_p.V6V	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	878					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TGACTGTGGTCACCAAAGAAA	0.582																																						ENST00000320580.4																		RBM14/PACS1(2)	0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						c.(2632-2634)gtC>gtT		phosphofurin acidic cluster sorting protein 1							66.0	63.0	64.0					11																	66009102		2200	4295	6495	SO:0001819	synonymous_variant	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:66009102C>T	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.2634C>T	11.37:g.66009102C>T						PACS1_ENST00000524815.1_Silent_p.V6V|PACS1_ENST00000529757.1_Silent_p.V414V	p.V878V	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN			22	2667	+			878					Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Silent	SNP	ENST00000320580.4	37	c.2634C>T	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347801	0.24426	.	.	ENSG00000175115	ENST00000529677	.	.	.	5.42	4.52	0.55395	.	.	.	.	.	T	0.59891	0.2227	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57917	-0.7728	4	.	.	.	-31.5432	9.2199	0.37370	0.0:0.7753:0.146:0.0787	.	.	.	.	Y	62	.	.	H	+	1	0	PACS1	65765678	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.624000	0.37018	1.448000	0.47680	0.655000	0.94253	CAC		0.582	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		6	280	0	0	0	1	0	6	280				
TYK2	7297	broad.mit.edu	37	19	10463185	10463185	+	Silent	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:10463185C>T	ENST00000525621.1	-	23	3724	c.3243G>A	c.(3241-3243)gcG>gcA	p.A1081A	TYK2_ENST00000524462.1_Silent_p.A896A|TYK2_ENST00000529422.1_Intron|TYK2_ENST00000264818.6_Silent_p.A1081A	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1081	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AGACATCTGACGCATAGTAGA	0.637																																						ENST00000525621.1																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3241-3243)gcG>gcA		tyrosine kinase 2							86.0	85.0	86.0					19																	10463185		2203	4300	6503	SO:0001819	synonymous_variant	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10463185C>T		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.3243G>A	19.37:g.10463185C>T						TYK2_ENST00000524462.1_Silent_p.A896A|TYK2_ENST00000264818.6_Silent_p.A1081A|TYK2_ENST00000529422.1_Intron	p.A1081A	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		23	3724	-			1081			Protein kinase 2.		Q6QB10|Q96CH0	Silent	SNP	ENST00000525621.1	37	c.3243G>A	CCDS12236.1																																																																																				0.637	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			15	440	0	0	0	1	0	15	440				
FLG2	388698	broad.mit.edu	37	1	152325720	152325720	+	Silent	SNP	C	C	T	rs147635537		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:152325720C>T	ENST00000388718.5	-	3	4614	c.4542G>A	c.(4540-4542)tcG>tcA	p.S1514S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1514					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AATGTGTGTGCGAGCCCCCTG	0.493																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(4540-4542)tcG>tcA		filaggrin family member 2		T		0,4406		0,0,2203	321.0	309.0	313.0		4542	-7.6	0.0	1	dbSNP_134	313	1,8599	819.2+/-406.8	0,1,4299	no	coding-synonymous	FLG2	NM_001014342.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1514/2392	152325720	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152325720C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4542G>A	1.37:g.152325720C>T						FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S1514S	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4614	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1514					Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.4542G>A	CCDS30861.1																																																																																				0.493	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		9	1294	0	0	0	1	0	9	1294				
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	lincRNA	SNP	C	C	G			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557																																						ENST00000565869.1																			0																																																			0							g.chr15:78211517C>G																													15.37:g.78211517C>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.557	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			6	601	0	0	0	1	0	6	601				
DCAF4L1	285429	broad.mit.edu	37	4	41984668	41984668	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:41984668G>A	ENST00000333141.5	+	1	956	c.859G>A	c.(859-861)Gca>Aca	p.A287T		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	287										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						ATGCCTGATGGCATCAGACAT	0.532																																						ENST00000333141.5																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						c.(859-861)Gca>Aca		DDB1 and CUL4 associated factor 4-like 1							124.0	108.0	113.0					4																	41984668		2203	4300	6503	SO:0001583	missense	285429							g.chr4:41984668G>A	BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.859G>A	4.37:g.41984668G>A	ENSP00000327796:p.Ala287Thr						p.A287T	NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN			1	956	+			287					B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	ENST00000333141.5	37	c.859G>A	CCDS33978.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303230	0.40795	.	.	ENSG00000182308	ENST00000333141	T	0.67171	-0.25	0.97	0.97	0.19692	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.100771	0.64402	D	0.000002	T	0.59770	0.2218	M	0.63843	1.955	0.36094	D	0.84367	P	0.49961	0.93	B	0.43575	0.424	T	0.66015	-0.6028	10	0.46703	T	0.11	.	7.7469	0.28875	1.0E-4:0.0:0.9999:0.0	.	287	Q3SXM0	DC4L1_HUMAN	T	287	ENSP00000327796:A287T	ENSP00000327796:A287T	A	+	1	0	DCAF4L1	41679425	1.000000	0.71417	0.144000	0.22314	0.696000	0.40369	4.160000	0.58164	0.821000	0.34540	0.313000	0.20887	GCA		0.532	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955		6	483	0	0	0	1	0	6	483				
ZNF57	126295	broad.mit.edu	37	19	2917857	2917857	+	Missense_Mutation	SNP	C	C	T	rs148390269		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:2917857C>T	ENST00000306908.5	+	4	1386	c.1238C>T	c.(1237-1239)aCg>aTg	p.T413M	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.T381M	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		CATTTGAGGACGCACACTGGA	0.438													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22852	0.0		0.0	False		,,,				2504	0.0				NSCLC(150;910 1964 4303 10464 26498)	ENST00000306908.5																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1237-1239)aCg>aTg		zinc finger protein 57							100.0	90.0	93.0					19																	2917857		2203	4300	6503	SO:0001583	missense	126295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2917857C>T	M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"""Zinc fingers, C2H2-type"", ""-"""	13125	protein-coding gene	gene with protein product			"""zinc finger protein 424"""	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.1238C>T	19.37:g.2917857C>T	ENSP00000303696:p.Thr413Met					ZNF57_ENST00000523428.1_Missense_Mutation_p.T381M|AC006277.2_ENST00000520090.2_RNA	p.T413M	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1386	+			413					Q8N6R9	Missense_Mutation	SNP	ENST00000306908.5	37	c.1238C>T	CCDS12098.1	.	.	.	.	.	.	.	.	.	.	C	9.937	1.216517	0.22373	.	.	ENSG00000171970	ENST00000306908;ENST00000395204;ENST00000523428	T;T	0.13089	2.62;2.62	2.08	-2.04	0.07343	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17577	0.0422	L	0.50847	1.595	0.09310	N	1	D	0.57899	0.981	P	0.52343	0.696	T	0.15665	-1.0429	9	0.52906	T	0.07	.	6.5785	0.22581	0.0:0.5038:0.0:0.4962	.	413	Q68EA5	ZNF57_HUMAN	M	413;415;381	ENSP00000303696:T413M;ENSP00000430223:T381M	ENSP00000303696:T413M	T	+	2	0	ZNF57	2868857	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	-4.310000	0.00255	-0.255000	0.09486	-0.424000	0.05967	ACG		0.438	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1	NM_173480		6	402	0	0	0	1	0	6	402				
ZNRF4	148066	broad.mit.edu	37	19	5456659	5456659	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:5456659T>C	ENST00000222033.4	+	1	1234	c.1157T>C	c.(1156-1158)aTt>aCt	p.I386T		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	386						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		ATCTGGGCCATTCAAGTCCAG	0.662																																						ENST00000222033.4																			0				NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1156-1158)aTt>aCt		zinc and ring finger 4							35.0	42.0	40.0					19																	5456659		1982	4149	6131	SO:0001583	missense	148066					integral to membrane	zinc ion binding	g.chr19:5456659T>C	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.1157T>C	19.37:g.5456659T>C	ENSP00000222033:p.Ile386Thr						p.I386T	NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	1234	+			386					A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	c.1157T>C	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	T	2.697	-0.271774	0.05716	.	.	ENSG00000105428	ENST00000222033	T	0.04706	3.57	3.47	1.02	0.19986	.	0.686881	0.13351	U	0.394422	T	0.03095	0.0091	L	0.29908	0.895	0.09310	N	1	B	0.26002	0.139	B	0.14578	0.011	T	0.44159	-0.9346	10	0.27785	T	0.31	-11.1573	3.5984	0.08014	0.2261:0.0:0.2332:0.5407	.	386	Q8WWF5	ZNRF4_HUMAN	T	386	ENSP00000222033:I386T	ENSP00000222033:I386T	I	+	2	0	ZNRF4	5407659	0.697000	0.27767	0.686000	0.30086	0.005000	0.04900	1.600000	0.36762	0.473000	0.27368	-0.516000	0.04426	ATT		0.662	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		10	322	0	0	0	1	0	10	322				
SALL1	6299	broad.mit.edu	37	16	51175661	51175661	+	Missense_Mutation	SNP	T	T	C	rs139646526	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr16:51175661T>C	ENST00000251020.4	-	2	505	c.472A>G	c.(472-474)Agc>Ggc	p.S158G	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.S61G|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	158	Poly-Ser.				adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|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)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ccgccgctgctgctgctgctg	0.632													t|||	22	0.00439297	0.0113	0.0043	5008	,	,		12583	0.002		0.002	False		,,,				2504	0.0				GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(181-183)Agc>Ggc		spalt-like transcription factor 1		C	GLY/SER,GLY/SER	15,4347		0,15,2166	22.0	25.0	24.0		472,181	-0.4	0.0	16	dbSNP_134	24	6,8538		0,6,4266	no	missense,missense	SALL1	NM_002968.2,NM_001127892.1	56,56	0,21,6432	CC,CT,TT		0.0702,0.3439,0.1627	benign,benign	158/1325,61/1228	51175661	21,12885	2181	4272	6453	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175661T>C	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.472A>G	16.37:g.51175661T>C	ENSP00000251020:p.Ser158Gly					SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S158G|SALL1_ENST00000541611.1_Intron	p.S61G	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	612	-		all_cancers(37;0.0322)	158					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.181A>G	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-4.558861	0.00000	0.003439	7.02E-4	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.06142	3.35;3.34	0.225	-0.451	0.12214	.	0.955374	0.08430	N	0.947112	T	0.02610	0.0079	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.44390	-0.9331	9	0.16896	T	0.51	.	.	.	.	.	158	Q9NSC2	SALL1_HUMAN	G	158;61;122	ENSP00000251020:S158G;ENSP00000407914:S61G	ENSP00000251020:S158G	S	-	1	0	SALL1	49733162	0.610000	0.26983	0.003000	0.11579	0.002000	0.02628	0.506000	0.22658	-2.764000	0.00368	-2.812000	0.00111	AGC		0.632	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		5	155	0	0	0	1	0	5	155				
TNN	63923	broad.mit.edu	37	1	175086217	175086217	+	Silent	SNP	G	G	A	rs199995910	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:175086217G>A	ENST00000239462.4	+	10	2375	c.2262G>A	c.(2260-2262)ccG>ccA	p.P754P		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	754	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)				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)		GGGAGGTTCCGGTGGGGAAGG	0.637													G|||	4	0.000798722	0.0	0.0	5008	,	,		18015	0.004		0.0	False		,,,				2504	0.0					ENST00000239462.4																			0				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.(2260-2262)ccG>ccA		tenascin N							91.0	85.0	87.0					1																	175086217		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175086217G>A	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.2262G>A	1.37:g.175086217G>A							p.P754P	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	10	2375	+		Breast(1374;0.000962)	754			Fibronectin type-III 6.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.2262G>A	CCDS30943.1																																																																																				0.637	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		5	463	0	0	0	1	0	5	463				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		11	220	1	0	0.0167234	1	0.016991	11	220				
USP32	84669	broad.mit.edu	37	17	58289395	58289395	+	Silent	SNP	A	A	G			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:58289395A>G	ENST00000300896.4	-	19	2363	c.2169T>C	c.(2167-2169)gaT>gaC	p.D723D	USP32_ENST00000592339.1_Silent_p.D393D	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	723					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CCTTGTGTCTATCTATTTTAC	0.308																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(2167-2169)gaT>gaC		ubiquitin specific peptidase 32							76.0	73.0	74.0					17																	58289395		2203	4298	6501	SO:0001819	synonymous_variant	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58289395A>G	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.2169T>C	17.37:g.58289395A>G						USP32_ENST00000592339.1_Silent_p.D393D	p.D723D	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		19	2363	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		723					Q7Z5T3|Q9BX85|Q9Y591	Silent	SNP	ENST00000300896.4	37	c.2169T>C	CCDS32697.1																																																																																				0.308	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		5	286	0	0	0	1	0	5	286				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	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	93	0	0	0	1	0	6	93				
COL5A2	1290	broad.mit.edu	37	2	189945762	189945762	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:189945762C>T	ENST00000374866.3	-	13	1134	c.860G>A	c.(859-861)cGt>cAt	p.R287H		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	287					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)			AGGAAATCCACGAGCTCCCTG	0.413																																						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.(859-861)cGt>cAt		collagen, type V, alpha 2							79.0	89.0	86.0					2																	189945762		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189945762C>T	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.860G>A	2.37:g.189945762C>T	ENSP00000364000:p.Arg287His						p.R287H	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		13	1134	-			287					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.860G>A	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216368	0.79352	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.94232	-3.38	5.26	5.26	0.73747	.	0.000000	0.42964	D	0.000627	D	0.96137	0.8741	M	0.77820	2.39	0.51233	D	0.999915	D;D	0.71674	0.998;0.995	D;D	0.71184	0.964;0.972	D	0.95592	0.8655	9	.	.	.	.	14.2306	0.65890	0.0:1.0:0.0:0.0	.	104;287	Q5PR22;P05997	.;CO5A2_HUMAN	H	287;104	ENSP00000364000:R287H	.	R	-	2	0	COL5A2	189654007	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	5.417000	0.66423	2.732000	0.93576	0.555000	0.69702	CGT		0.413	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		7	282	0	0	0	1	0	7	282				
VAMP2	6844	broad.mit.edu	37	17	8064816	8064816	+	Silent	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:8064816G>A	ENST00000316509.6	-	4	404	c.309C>T	c.(307-309)tgC>tgT	p.C103C	VAMP2_ENST00000481878.1_Silent_p.C103C|VAMP2_ENST00000404970.3_Silent_p.C58C|VAMP2_ENST00000488857.1_Silent_p.C105C|RP11-599B13.6_ENST00000498285.1_Silent_p.C103C	NM_014232.2	NP_055047.2	P63027	VAMP2_HUMAN	vesicle-associated membrane protein 2 (synaptobrevin 2)	103					cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|exocytosis (GO:0006887)|glutamate secretion (GO:0014047)|membrane organization (GO:0061024)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	calcium-dependent protein binding (GO:0048306)|protein self-association (GO:0043621)									Botulinum Toxin Type B(DB00042)	GGATGATGGCGCAAATCACTC	0.517																																						ENST00000316509.6																			0											c.(307-309)tgC>tgT		vesicle-associated membrane protein 2 (synaptobrevin 2)	Botulinum Toxin Type B(DB00042)						129.0	103.0	112.0					17																	8064816		2203	4300	6503	SO:0001819	synonymous_variant	6844				energy reserve metabolic process|glutamate secretion|post-Golgi vesicle-mediated transport|regulation of insulin secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to plasma membrane|synaptic vesicle membrane|synaptosome		g.chr17:8064816G>A		CCDS32561.1	17p13.1	2013-09-19			ENSG00000220205	ENSG00000220205		"""Vesicle-associated membrane proteins"""	12643	protein-coding gene	gene with protein product		185881		SYB2		1976629	Standard	NM_014232		Approved	VAMP-2	uc010cnt.1	P63027	OTTHUMG00000150254	ENST00000316509.6:c.309C>T	17.37:g.8064816G>A						RP11-599B13.6_ENST00000498285.1_Silent_p.C103C|VAMP2_ENST00000488857.1_Silent_p.C105C|VAMP2_ENST00000481878.1_Silent_p.C103C|VAMP2_ENST00000404970.3_Silent_p.C58C	p.C103C	NM_014232.2	NP_055047.2	P63027	VAMP2_HUMAN			4	404	-			103					P19065|Q9BUC2	Silent	SNP	ENST00000316509.6	37	c.309C>T	CCDS32561.1																																																																																				0.517	VAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317118.1			5	180	0	0	0	1	0	5	180				
PPRC1	23082	broad.mit.edu	37	10	103907023	103907023	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr10:103907023G>A	ENST00000278070.2	+	9	4313	c.4274G>A	c.(4273-4275)cGc>cAc	p.R1425H	PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.R392H|PPRC1_ENST00000413464.2_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1425	Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CGCCGAGGCCGCAACAGCCGT	0.627																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(4273-4275)cGc>cAc		peroxisome proliferator-activated receptor gamma, coactivator-related 1							77.0	69.0	71.0					10																	103907023		2203	4298	6501	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103907023G>A	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4274G>A	10.37:g.103907023G>A	ENSP00000278070:p.Arg1425His					PPRC1_ENST00000370012.1_Missense_Mutation_p.R392H|PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000413464.2_Intron	p.R1425H	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	9	4313	+		Colorectal(252;0.122)	1425			Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.4274G>A	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	9.681	1.149221	0.21288	.	.	ENSG00000148840	ENST00000278070;ENST00000370012	T;T	0.37915	1.55;1.17	5.04	3.19	0.36642	.	0.407952	0.26903	N	0.021907	T	0.26011	0.0634	L	0.31926	0.97	0.80722	D	1	B;B	0.19817	0.039;0.023	B;B	0.17433	0.018;0.005	T	0.04454	-1.0950	10	0.21014	T	0.42	.	11.9659	0.53035	0.1434:0.0:0.8566:0.0	.	1305;1425	Q5VV67-2;Q5VV67	.;PPRC1_HUMAN	H	1425;392	ENSP00000278070:R1425H;ENSP00000359029:R392H	ENSP00000278070:R1425H	R	+	2	0	PPRC1	103897013	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	2.955000	0.49121	0.805000	0.34159	-0.379000	0.06801	CGC		0.627	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		5	391	0	0	0	1	0	5	391				
TRIM48	79097	broad.mit.edu	37	11	55035844	55035844	+	Missense_Mutation	SNP	T	T	C	rs544106865	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:55035844T>C	ENST00000417545.2	+	4	660	c.574T>C	c.(574-576)Tac>Cac	p.Y192H		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	176						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Y192H(11)|p.Y176H(11)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGACATATTATACAGGTGAGT	0.338													t|||	59	0.0117812	0.0023	0.0043	5008	,	,		11619	0.0089		0.001	False		,,,				2504	0.044					ENST00000417545.2																			22	Substitution - Missense(22)	p.Y192H(11)|p.Y176H(11)	endometrium(22)	endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(574-576)Tac>Cac		tripartite motif containing 48							109.0	112.0	111.0					11																	55035844		2189	4259	6448	SO:0001583	missense	79097					intracellular	zinc ion binding	g.chr11:55035844T>C	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.574T>C	11.37:g.55035844T>C	ENSP00000402414:p.Tyr192His						p.Y192H	NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN			4	660	+			176					Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	c.574T>C	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	t	1.777	-0.482977	0.04383	.	.	ENSG00000150244	ENST00000417545	T	0.71934	-0.61	.	.	.	.	.	.	.	.	T	0.38108	0.1028	N	0.02142	-0.665	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23655	-1.0182	7	0.24483	T	0.36	.	.	.	.	.	176	Q8IWZ4	TRI48_HUMAN	H	192	ENSP00000402414:Y192H	ENSP00000402414:Y192H	Y	+	1	0	TRIM48	54792420	0.459000	0.25768	0.171000	0.22900	0.171000	0.22731	-0.564000	0.05936	0.103000	0.17682	0.102000	0.15555	TAC		0.338	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			6	159	0	0	0	1	0	6	159				
DNAJC4	3338	broad.mit.edu	37	11	63997583	63997583	+	5'Flank	SNP	A	A	C			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:63997583A>C	ENST00000321685.3	+	0	0				DNAJC4_ENST00000321460.5_5'Flank|RP11-783K16.14_ENST00000539963.1_RNA|DNAJC4_ENST00000355040.4_5'Flank|RP11-783K16.14_ENST00000534988.1_RNA	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4						protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	unfolded protein binding (GO:0051082)			endometrium(1)|lung(1)|prostate(1)	3						AAAAAAAAAAACCCGCCCAGC	0.532																																						ENST00000534988.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr11:63997583A>C	AF012106	CCDS41666.1	11q13	2011-09-02			ENSG00000110011	ENSG00000110011		"""Heat shock proteins / DNAJ (HSP40)"""	5271	protein-coding gene	gene with protein product		604189		HSPF2		9473517, 11147971	Standard	NM_005528		Approved	MCG18	uc001nys.3	Q9NNZ3	OTTHUMG00000167792		11.37:g.63997583A>C	Exception_encountered													0	99	-								O14716	RNA	SNP	ENST00000321685.3	37		CCDS41666.1																																																																																				0.532	DNAJC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396305.1			7	4	0	0	0	1	0	7	4				
LCN1	3933	broad.mit.edu	37	9	138413373	138413373	+	Silent	SNP	T	T	C			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr9:138413373T>C	ENST00000263598.2	+	1	90	c.30T>C	c.(28-30)ctT>ctC	p.L10L	LCN1_ENST00000371781.3_Silent_p.L10L	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	10					negative regulation of endopeptidase activity (GO:0010951)|proteolysis (GO:0006508)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|sensory perception of taste (GO:0050909)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.L10L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		CCGTCAGCCTTGGCCTCATTG	0.667																																						ENST00000263598.2																			2	Substitution - coding silent(2)	p.L10L(2)	large_intestine(1)|endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13						c.(28-30)ctT>ctC		lipocalin 1																																				SO:0001819	synonymous_variant	3933				proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity	g.chr9:138413373T>C		CCDS6991.1	9q34	2011-11-14	2011-11-01		ENSG00000160349	ENSG00000160349		"""Lipocalins"""	6525	protein-coding gene	gene with protein product	"""Von Ebner gland protein"", ""tear lipocalin"", ""lipocalin 1-like 2"", ""tear prealbumin"""	151675	"""lipocalin 1 (protein migrating faster than albumin, tear prealbumin)"", ""lipocalin 1 (tear prealbumin)"""			8276406	Standard	NM_002297		Approved	VEGP, TP, PMFA, MGC71975, TLC	uc022bpk.1	P31025	OTTHUMG00000020908	ENST00000263598.2:c.30T>C	9.37:g.138413373T>C						LCN1_ENST00000371781.3_Silent_p.L10L	p.L10L	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)	1	90	+		Myeloproliferative disorder(178;0.0511)	10					Q5T8A1	Silent	SNP	ENST00000263598.2	37	c.30T>C	CCDS6991.1																																																																																				0.667	LCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054992.1	NM_002297		5	158	0	0	0	1	0	5	158				
PRAMEF11	440560	broad.mit.edu	37	1	12887606	12887606	+	Missense_Mutation	SNP	C	C	G	rs58074988	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:12887606C>G	ENST00000535591.1	-	3	446	c.251G>C	c.(250-252)tGc>tCc	p.C84S		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	84					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)			p.C84S(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATTGAGGAAGCACCCATGGGC	0.483																																						ENST00000535591.1																			1	Substitution - Missense(1)	p.C84S(1)	endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(250-252)tGc>tCc		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887606C>G	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.251G>C	1.37:g.12887606C>G	ENSP00000439551:p.Cys84Ser						p.C84S	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	446	-			84						Missense_Mutation	SNP	ENST00000535591.1	37	c.251G>C	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	8.676	0.903882	0.17760	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.18016	2.24;2.24	1.48	-0.635	0.11512	.	1.371720	0.04624	N	0.402516	T	0.15825	0.0381	L	0.54908	1.71	0.09310	N	1	P	0.44816	0.844	B	0.41764	0.366	T	0.23904	-1.0175	10	0.16896	T	0.51	.	3.692	0.08350	0.2835:0.4381:0.2784:0.0	rs58074988	84	O60813	PRA11_HUMAN	S	84;125;84	ENSP00000439551:C84S;ENSP00000391839:C84S	ENSP00000328783:C125S	C	-	2	0	PRAMEF11	12810193	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.358000	0.07641	-0.176000	0.10707	-1.934000	0.00508	TGC		0.483	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		11	1251	0	0	0	1	0	11	1251				
OR7G3	390883	broad.mit.edu	37	19	9236903	9236903	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:9236903C>A	ENST00000305444.2	-	1	723	c.724G>T	c.(724-726)Ggg>Tgg	p.G242W		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AAATGTGACCCGCAGATGGAA	0.448																																						ENST00000305444.2																			0				NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(724-726)Ggg>Tgg		olfactory receptor, family 7, subfamily G, member 3							101.0	102.0	102.0					19																	9236903		2203	4300	6503	SO:0001583	missense	390883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9236903C>A		CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"""GPCR / Class A : Olfactory receptors"""	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.724G>T	19.37:g.9236903C>A	ENSP00000302867:p.Gly242Trp						p.G242W	NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN			1	723	-			242					Q6IFJ6|Q96R99	Missense_Mutation	SNP	ENST00000305444.2	37	c.724G>T	CCDS32899.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.555942	0.45487	.	.	ENSG00000170920	ENST00000305444	T	0.37915	1.17	3.96	3.96	0.45880	GPCR, rhodopsin-like superfamily (1);	0.178246	0.26369	U	0.024780	T	0.67468	0.2896	H	0.97587	4.035	0.21499	N	0.999668	D	0.63046	0.992	D	0.70935	0.971	T	0.64373	-0.6423	10	0.87932	D	0	.	5.9236	0.19096	0.0:0.6979:0.1968:0.1053	.	242	Q8NG95	OR7G3_HUMAN	W	242	ENSP00000302867:G242W	ENSP00000302867:G242W	G	-	1	0	OR7G3	9097903	0.000000	0.05858	0.690000	0.30148	0.116000	0.19942	-0.903000	0.04084	2.251000	0.74343	0.551000	0.68910	GGG		0.448	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1			5	578	1	0	0.184627	1	0.184627	5	578				
ARHGAP22	58504	broad.mit.edu	37	10	49791051	49791051	+	Silent	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr10:49791051G>A	ENST00000249601.4	-	2	477	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	ARHGAP22_ENST00000435790.2_Silent_p.L67L|ARHGAP22_ENST00000491108.1_5'UTR|ARHGAP22_ENST00000417912.2_Silent_p.L61L	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	61	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCCCACGCAGCACAAACCAG	0.607																																						ENST00000249601.4																			0				endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(181-183)Ctg>Ttg		Rho GTPase activating protein 22							137.0	124.0	128.0					10																	49791051		2203	4300	6503	SO:0001819	synonymous_variant	58504				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	g.chr10:49791051G>A	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.181C>T	10.37:g.49791051G>A						ARHGAP22_ENST00000417912.2_Silent_p.L61L|ARHGAP22_ENST00000435790.2_Silent_p.L67L|ARHGAP22_ENST00000491108.1_5'UTR	p.L61L	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN			2	477	-			61			PH.		A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Silent	SNP	ENST00000249601.4	37	c.181C>T	CCDS7227.1																																																																																				0.607	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226		6	730	0	0	0	1	0	6	730				
TRAPPC10	7109	broad.mit.edu	37	21	45503147	45503147	+	Silent	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr21:45503147G>A	ENST00000291574.4	+	14	2377	c.2202G>A	c.(2200-2202)ctG>ctA	p.L734L		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	734					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						ACGTGACCCTGGAACCAGGGG	0.572																																						ENST00000291574.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(2200-2202)ctG>ctA		trafficking protein particle complex 10							108.0	104.0	105.0					21																	45503147		2203	4300	6503	SO:0001819	synonymous_variant	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45503147G>A	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.2202G>A	21.37:g.45503147G>A							p.L734L	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			14	2377	+			734					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Silent	SNP	ENST00000291574.4	37	c.2202G>A	CCDS13704.1																																																																																				0.572	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		6	659	0	0	0	1	0	6	659				
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796|rs79472512	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	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			10	42						10	42	---	---	---	---
AHDC1	27245	broad.mit.edu	37	1	27875353	27875355	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:27875353_27875355delAGG	ENST00000247087.5	-	5	3868_3870	c.3272_3274delCCT	c.(3271-3276)tccttc>ttc	p.S1091del	AHDC1_ENST00000374011.2_In_Frame_Del_p.S1091del			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1091							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GAGGGCTGGAaggaggaggagga	0.665																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(3271-3276)ttc>t		AT hook, DNA binding motif, containing 1																																				SO:0001651	inframe_deletion	27245						DNA binding	g.chr1:27875353_27875355delAGG	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.3272_3274delCCT	1.37:g.27875362_27875364delAGG	ENSP00000247087:p.Ser1091del					AHDC1_ENST00000247087.5_In_Frame_Del_p.SF1091del|AHDC1_ENST00000482400.2_Intron	p.SF1091del	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	4240_4242	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1091					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	In_Frame_Del	DEL	ENST00000247087.5	37	c.3272_3274delCCT	CCDS30652.1																																																																																				0.665	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			7	181						7	181	---	---	---	---
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:40713708_40713709delTC	ENST00000372766.3	+	1	136_137	c.43_44delTC	c.(43-45)tctfs	p.S15fs	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	15						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406																																						ENST00000372766.3																			0				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6						c.(43-45)tfs		transmembrane and coiled-coil domains 2																																				SO:0001589	frameshift_variant	127391					integral to membrane		g.chr1:40713708_40713709delTC	AL050341	CCDS30684.1	1p34.2	2014-02-12			ENSG00000188800	ENSG00000188800			23312	protein-coding gene	gene with protein product							Standard	NM_001008740		Approved	dJ39G22.2	uc001cfe.2	Q7Z6W1	OTTHUMG00000005764	ENST00000372766.3:c.43_44delTC	1.37:g.40713718_40713719delTC	ENSP00000361852:p.Ser15fs					TMCO2_ENST00000468258.1_Intron	p.S15fs	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		1	136_137	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	15						Frame_Shift_Del	DEL	ENST00000372766.3	37	c.43_44delTC	CCDS30684.1																																																																																				0.406	TMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015769.1	NM_001008740		11	877						11	877	---	---	---	---
CDC14A	8556	broad.mit.edu	37	1	100889836	100889837	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:100889836_100889837insC	ENST00000336454.3	+	5	723_724	c.368_369insC	c.(367-372)aaccccfs	p.NP123fs	CDC14A_ENST00000370125.2_Frame_Shift_Ins_p.NP123fs|CDC14A_ENST00000370124.3_Frame_Shift_Ins_p.NP123fs|CDC14A_ENST00000469387.1_3'UTR|CDC14A_ENST00000361544.6_Frame_Shift_Ins_p.NP123fs|CDC14A_ENST00000542213.1_Frame_Shift_Ins_p.NP65fs|CDC14A_ENST00000544534.1_Frame_Shift_Ins_p.NP123fs	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	123	A.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCTGGCTCAAACCCCCCCTATC	0.401																																						ENST00000370125.2																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31						c.(367-369)accfs		cell division cycle 14A																																				SO:0001589	frameshift_variant	8556				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr1:100889836_100889837insC	AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.375dupC	1.37:g.100889843_100889843dupC	ENSP00000336739:p.Asn123fs					CDC14A_ENST00000544534.1_Frame_Shift_Ins_p.T123fs|CDC14A_ENST00000542213.1_Frame_Shift_Ins_p.T65fs|CDC14A_ENST00000370124.3_Frame_Shift_Ins_p.T123fs|CDC14A_ENST00000469387.1_3'UTR|CDC14A_ENST00000361544.6_Frame_Shift_Ins_p.T123fs|CDC14A_ENST00000336454.3_Frame_Shift_Ins_p.T123fs	p.T123fs			Q9UNH5	CC14A_HUMAN		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)	5	856_857	+		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)	123			A.		A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Frame_Shift_Ins	INS	ENST00000336454.3	37	c.368_369insC	CCDS769.1																																																																																				0.401	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312		8	617						8	617	---	---	---	---
EPS8L3	79574	broad.mit.edu	37	1	110300579	110300580	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:110300579_110300580insT	ENST00000361965.4	-	9	924_925	c.818_819insA	c.(817-819)aacfs	p.N273fs	EPS8L3_ENST00000494151.1_5'Flank|EPS8L3_ENST00000369805.3_Frame_Shift_Ins_p.N274fs|EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.N273fs|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	273						cytoplasm (GO:0005737)		p.N274fs*33(2)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CCTGGTCCTTGTTTTTTTTCCC	0.545																																						ENST00000369805.3																			2	Deletion - Frameshift(2)	p.N274fs*33(2)	ovary(1)|large_intestine(1)	breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32						c.(820-822)aaafs		EPS8-like 3			,,	1,4261		0,1,2130					,,	-3.4	0.0			208	4,8246		0,4,4121	no	frameshift,frameshift,frameshift	EPS8L3	NM_139053.2,NM_133181.3,NM_024526.3	,,	0,5,6251	A1A1,A1R,RR		0.0485,0.0235,0.04	,,	,,		5,12507				SO:0001589	frameshift_variant	79574					cytoplasm	protein binding	g.chr1:110300579_110300580insT	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.819dupA	1.37:g.110300587_110300587dupT	ENSP00000355255:p.Asn273fs					EPS8L3_ENST00000361965.4_Frame_Shift_Ins_p.K273fs|EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.K273fs|RP4-735C1.4_ENST00000431955.1_RNA	p.K274fs	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	9	1050_1051	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	273					A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Frame_Shift_Ins	INS	ENST00000361965.4	37	c.821_822insA	CCDS814.1																																																																																				0.545	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		7	610						7	610	---	---	---	---
RP11-782C8.1	0	broad.mit.edu	37	1	143217265	143217266	+	lincRNA	INS	-	-	A	rs200536781		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:143217265_143217266insA	ENST00000438000.1	+	0	59																											GTTAGTAAAGCAAAAAAAAAAC	0.282																																						ENST00000438000.1																			0																																																			0							g.chr1:143217265_143217266insA																													1.37:g.143217275_143217275dupA														0	59	+									RNA	INS	ENST00000438000.1	37																																																																																						0.282	RP11-782C8.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037560.1			10	21						10	21	---	---	---	---
C2orf71	388939	broad.mit.edu	37	2	29295647	29295649	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:29295647_29295649delTCC	ENST00000331664.5	-	1	1478_1480	c.1479_1481delGGA	c.(1477-1482)gaggaa>gaa	p.493_494EE>E		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	493					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATTTTGTCTTCCTCCTCCTCCT	0.542																																						ENST00000331664.5																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(1477-1482)gaa>ga		chromosome 2 open reading frame 71																																				SO:0001651	inframe_deletion	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29295647_29295649delTCC		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1479_1481delGGA	2.37:g.29295656_29295658delTCC	ENSP00000332809:p.Glu494del						p.EE493del	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	1478_1480	-			493						In_Frame_Del	DEL	ENST00000331664.5	37	c.1479_1481delGGA	CCDS42669.1																																																																																				0.542	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		7	840						7	840	---	---	---	---
EIF2AK3	9451	broad.mit.edu	37	2	88874269	88874270	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:88874269_88874270delCT	ENST00000303236.3	-	13	3032_3033	c.2731_2732delAG	c.(2731-2733)aggfs	p.R911fs	EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Frame_Shift_Del_p.R760fs|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	911	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						ACACACGCTCCTCTCTCTCTCC	0.465																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			0				ovary(3)	3	GRCh37	CD042196	EIF2AK3	D		c.(2731-2733)gfs		eukaryotic translation initiation factor 2-alpha kinase 3																																				SO:0001589	frameshift_variant	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88874269_88874270delCT	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.2731_2732delAG	2.37:g.88874277_88874278delCT	ENSP00000307235:p.Arg911fs					EIF2AK3_ENST00000419748.1_Frame_Shift_Del_p.R760fs|EIF2AK3_ENST00000470706.1_5'UTR|AC104134.2_ENST00000413234.1_RNA	p.R911fs	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN			13	3032_3033	-			911			Protein kinase.		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Frame_Shift_Del	DEL	ENST00000303236.3	37	c.2731_2732delAG	CCDS33241.1																																																																																				0.465	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		7	461						7	461	---	---	---	---
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	TCC	-	rs199680376		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:242738494_242738496delTCC	ENST00000192314.6	+	2	175_177	c.44_46delTCC	c.(43-48)atcctc>atc	p.L20del	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	20					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.L16I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTCCGGGTCATCCTCCTCCTCCT	0.631																																						ENST00000192314.6																			1	Substitution - Missense(1)	p.L16I(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14						c.(43-48)atc>a		galactose-3-O-sulfotransferase 2																																				SO:0001651	inframe_deletion	64090				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	g.chr2:242738494_242738496delTCC	AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"""Sulfotransferases, membrane-bound"""	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.44_46delTCC	2.37:g.242738503_242738505delTCC	ENSP00000192314:p.Leu20del						p.IL15del	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	2	175_177	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	15					Q17RK0|Q57Z52	In_Frame_Del	DEL	ENST00000192314.6	37	c.44_46delTCC	CCDS33427.1																																																																																				0.631	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322792.1	NM_022134		8	402						8	402	---	---	---	---
IL17RB	55540	broad.mit.edu	37	3	53889347	53889347	+	Frame_Shift_Del	DEL	A	A	-	rs527321039		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr3:53889347delA	ENST00000288167.3	+	6	517	c.508delA	c.(508-510)aaafs	p.K172fs		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	172					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		AATGAAATATAAAAAAAAGTG	0.383																																						ENST00000288167.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13						c.(508-510)aafs		interleukin 17 receptor B							42.0	43.0	42.0					3																	53889347		2203	4300	6503	SO:0001589	frameshift_variant	55540				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr3:53889347delA	AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"""Interleukins and interleukin receptors"""	18015	protein-coding gene	gene with protein product		605458	"""interleukin 17B receptor"""	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.508delA	3.37:g.53889347delA	ENSP00000288167:p.Lys172fs						p.K172fs	NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	6	517	+			172					Q9BPZ0|Q9NRL4|Q9NRM5	Frame_Shift_Del	DEL	ENST00000288167.3	37	c.508delA	CCDS2874.1																																																																																				0.383	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350563.1	NM_172234		8	578						8	578	---	---	---	---
ZNF717	100131827	broad.mit.edu	37	3	75790810	75790811	+	Frame_Shift_Ins	INS	-	-	T	rs199577560	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr3:75790810_75790811insT	ENST00000477374.1	-	3	305_306	c.134_135insA	c.(133-135)accfs	p.T45fs	ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.T38fs|ZNF717_ENST00000422325.1_Frame_Shift_Ins_p.T45fs|ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000478296.1_5'UTR			Q9BY31	ZN717_HUMAN	zinc finger protein 717	38	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						CCCTGTACAGGGTCCTCTGAGC	0.51																																						ENST00000422325.1																			0				autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						c.(133-135)actfs		zinc finger protein 717																																				SO:0001589	frameshift_variant	100131827				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:75790810_75790811insT	AF226994		3p12.3	2013-01-08			ENSG00000227124	ENSG00000227124		"""Zinc fingers, C2H2-type"", ""-"""	29448	protein-coding gene	gene with protein product			"""zinc finger protein 838"""	ZNF838			Standard	NM_001128223		Approved	X17	uc011bgi.2	Q9BY31	OTTHUMG00000158965	ENST00000477374.1:c.134_135insA	3.37:g.75790810_75790811insT	ENSP00000417902:p.Thr45fs					ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.T38fs|ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000478296.1_5'UTR|ZNF717_ENST00000477374.1_Frame_Shift_Ins_p.T45fs	p.T45fs	NM_001128223.1	NP_001121695.1	C9JSV9	C9JSV9_HUMAN			3	456_457	-			45						Frame_Shift_Ins	INS	ENST00000477374.1	37	c.134_135insA																																																																																					0.510	ZNF717-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000352767.1	NM_001128223		7	19						7	19	---	---	---	---
TMCC1	23023	broad.mit.edu	37	3	129546680	129546682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr3:129546680_129546682delGCA	ENST00000393238.3	-	3	880_882	c.540_542delTGC	c.(538-543)gctgca>gca	p.180_181AA>A	TMCC1_ENST00000426664.2_In_Frame_Del_p.66_67AA>A	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	180						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TGGTAGACATgcagcagcagcag	0.483																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(538-543)gca>gc		transmembrane and coiled-coil domain family 1																																				SO:0001651	inframe_deletion	23023					integral to membrane		g.chr3:129546680_129546682delGCA	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.540_542delTGC	3.37:g.129546689_129546691delGCA	ENSP00000376930:p.Ala181del					TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del	p.AA180del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			3	880_882	-			180					A8K5Y3|B4DE04|Q68E06|Q8IXM8	In_Frame_Del	DEL	ENST00000393238.3	37	c.540_542delTGC	CCDS33855.1																																																																																				0.483	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		7	318						7	318	---	---	---	---
PFN2	5217	broad.mit.edu	37	3	149769296	149769296	+	5'Flank	DEL	C	C	-	rs59377959|rs367768558|rs537947799	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr3:149769296delC	ENST00000497148.1	-	0	0				RP11-167H9.4_ENST00000487840.1_RNA			P35080	PROF2_HUMAN	profilin 2						actin cytoskeleton organization (GO:0030036)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|regulation of synaptic vesicle exocytosis (GO:2000300)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|terminal bouton (GO:0043195)	actin monomer binding (GO:0003785)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTCCTGGTGTCtttttttttt	0.463																																						ENST00000487840.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr3:149769296delC	L10678	CCDS3148.1, CCDS46934.1	3q25.1	2006-10-16			ENSG00000070087	ENSG00000070087			8882	protein-coding gene	gene with protein product		176590				8975700, 8365484	Standard	NM_002628		Approved		uc003ext.1	P35080	OTTHUMG00000159683		3.37:g.149769296delC	Exception_encountered													0	46	+								B2R4C8|D3DNI4|Q4VBQ4|Q8WVF9|Q9HBK2	RNA	DEL	ENST00000497148.1	37																																																																																						0.463	PFN2-018	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000357104.1	NM_002628		7	219						7	219	---	---	---	---
TMEM175	84286	broad.mit.edu	37	4	946206	946207	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:946206_946207delTG	ENST00000264771.4	+	7	615_616	c.430_431delTG	c.(430-432)tgtfs	p.C144fs	TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	144						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTTCTTGTTCTGTGTGTGTGTG	0.515																																						ENST00000264771.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14						c.(430-432)tfs		transmembrane protein 175																																				SO:0001589	frameshift_variant	84286					integral to membrane		g.chr4:946206_946207delTG	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.430_431delTG	4.37:g.946216_946217delTG	ENSP00000264771:p.Cys144fs					TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs	p.C144fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	615_616	+			144					D3DVN4|Q8ND13	Frame_Shift_Del	DEL	ENST00000264771.4	37	c.430_431delTG	CCDS3341.1																																																																																				0.515	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		12	832						12	832	---	---	---	---
RPL9	6133	broad.mit.edu	37	4	39462464	39462464	+	5'Flank	DEL	A	A	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:39462464delA	ENST00000449470.2	-	0	0				LIAS_ENST00000381846.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000261434.3_Frame_Shift_Del_p.K36fs|LIAS_ENST00000513731.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000515061.1_3'UTR|RPL9_ENST00000295955.9_5'Flank|LIAS_ENST00000340169.2_Frame_Shift_Del_p.K36fs	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN	ribosomal protein L9						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.K36fs*31(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						CTTGCCAGATAAAAAAAAGGA	0.393																																						ENST00000261434.3																			1	Deletion - Frameshift(1)	p.K36fs*31(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12						c.(100-102)aafs		lipoic acid synthetase	Lipoic Acid(DB00166)						107.0	120.0	115.0					4																	39462464		2203	4300	6503	SO:0001631	upstream_gene_variant	11019				inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding	g.chr4:39462464delA	D14531	CCDS3452.1	4p13	2011-04-06			ENSG00000163682	ENSG00000163682		"""L ribosomal proteins"""	10369	protein-coding gene	gene with protein product		603686				8597601, 8415001	Standard	XM_005262661		Approved	L9	uc021sso.1	P32969	OTTHUMG00000099367		4.37:g.39462464delA	Exception_encountered					LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000381846.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000513731.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000340169.2_Frame_Shift_Del_p.K36fs	p.K36fs	NM_006859.2	NP_006850.2	O43766	LIAS_HUMAN			2	218	+			36						Frame_Shift_Del	DEL	ENST00000449470.2	37	c.100delA	CCDS3452.1																																																																																				0.393	RPL9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361018.1			9	880						9	880	---	---	---	---
FRG1	2483	broad.mit.edu	37	4	190873437	190873439	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:190873437_190873439delAAG	ENST00000226798.4	+	3	476_478	c.254_256delAAG	c.(253-258)aaagaa>aaa	p.E86del	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	86					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GCTCCACACAAAGAAGGTTTGTG	0.414																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(253-258)aaa>a		FSHD region gene 1				24,4216		0,24,2096						3.5	1.0		dbSNP_134	78	47,8181		0,47,4067	no	coding	FRG1	NM_004477.2		0,71,6163	A1A1,A1R,RR		0.5712,0.566,0.5695				71,12397				SO:0001651	inframe_deletion	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190873437_190873439delAAG	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.254_256delAAG	4.37:g.190873440_190873442delAAG	ENSP00000226798:p.Glu86del					FRG1_ENST00000514482.1_3'UTR	p.KE85del	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	3	476_478	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	85					A8K775	In_Frame_Del	DEL	ENST00000226798.4	37	c.254_256delAAG	CCDS34121.1																																																																																				0.414	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		7	676						7	676	---	---	---	---
CARD6	84674	broad.mit.edu	37	5	40853094	40853094	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr5:40853094delT	ENST00000254691.5	+	3	1859	c.1660delT	c.(1660-1662)tttfs	p.F556fs	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	556					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TTCAGCTGTGTTTTTTTTCAC	0.418																																						ENST00000254691.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(1660-1662)ttfs		caspase recruitment domain family, member 6							98.0	102.0	101.0					5																	40853094		2203	4300	6503	SO:0001589	frameshift_variant	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40853094delT	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1660delT	5.37:g.40853094delT	ENSP00000254691:p.Phe556fs					CARD6_ENST00000381677.3_Intron	p.F556fs	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN			3	1859	+			556					Q52LR2	Frame_Shift_Del	DEL	ENST00000254691.5	37	c.1660delT	CCDS3935.1																																																																																				0.418	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			7	668						7	668	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146350671	146350672	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr6:146350671_146350672insT	ENST00000282753.1	+	1	253_254	c.18_19insT	c.(19-21)tttfs	p.F7fs	GRM1_ENST00000492807.2_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000507907.1_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000355289.4_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000392299.2_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000361719.2_Frame_Shift_Ins_p.F7fs			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	7					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GGCTCCTTTTGTTTTTTTTCCC	0.644																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(16-21)ttttttfs		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)		,	13,4249		0,13,2118					,	5.4	0.9			109	6,8248		0,6,4121	no	frameshift,frameshift	GRM1	NM_001114329.1,NM_000838.3	,	0,19,6239	A1A1,A1R,RR		0.0727,0.305,0.1518	,	,		19,12497				SO:0001589	frameshift_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146350671_146350672insT	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.26dupT	6.37:g.146350679_146350679dupT	ENSP00000282753:p.Phe7fs					GRM1_ENST00000507907.1_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000361719.2_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000355289.4_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000282753.1_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000492807.2_Frame_Shift_Ins_p.FF6fs	p.FF6fs			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	2	488_489	+		Ovarian(120;0.0387)	6					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Frame_Shift_Ins	INS	ENST00000282753.1	37	c.18_19insT	CCDS5209.1																																																																																				0.644	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		11	982						11	982	---	---	---	---
GLCCI1	113263	broad.mit.edu	37	7	8126097	8126099	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr7:8126097_8126099delCAG	ENST00000223145.5	+	8	2130_2132	c.1573_1575delCAG	c.(1573-1575)cagdel	p.Q528del		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	528	Poly-Gln.					cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GCAGCCATCCCAGCAGCAGCAGC	0.562																																						ENST00000223145.5																			0				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(1573-1575)del		glucocorticoid induced transcript 1																																				SO:0001651	inframe_deletion	113263							g.chr7:8126097_8126099delCAG	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1573_1575delCAG	7.37:g.8126106_8126108delCAG	ENSP00000223145:p.Gln528del						p.Q528del	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	8	2130_2132	+		Ovarian(82;0.0608)	528			Poly-Gln.		A4D103|Q96FD0	In_Frame_Del	DEL	ENST00000223145.5	37	c.1573_1575delCAG	CCDS34601.1																																																																																				0.562	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426		7	1289						7	1289	---	---	---	---
POU6F2	11281	broad.mit.edu	37	7	39379288	39379290	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr7:39379288_39379290delCAG	ENST00000403058.1	+	6	713_715	c.559_561delCAG	c.(559-561)cagdel	p.Q196del	POU6F2_ENST00000518318.2_In_Frame_Del_p.Q196del|POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del|POU6F2_ENST00000517348.1_3'UTR	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	196	Gln-rich.			Q -> QQ (in Ref. 1; AAB49727/AAB49728). {ECO:0000305}.	central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						gctccagctccagcagcagcagc	0.616																																						ENST00000518318.2																			0				NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(559-561)del		POU class 6 homeobox 2																																				SO:0001651	inframe_deletion	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39379288_39379290delCAG	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.559_561delCAG	7.37:g.39379297_39379299delCAG	ENSP00000384004:p.Gln196del					POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del	p.Q196del			P78424	PO6F2_HUMAN			5	601_603	+			196	Q -> QQ (in Ref. 1; AAB49727/AAB49728).		Gln-rich.		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	In_Frame_Del	DEL	ENST00000403058.1	37	c.559_561delCAG	CCDS34620.2																																																																																				0.616	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		8	90						8	90	---	---	---	---
ATP6V0A4	50617	broad.mit.edu	37	7	138394465	138394466	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr7:138394465_138394466insC	ENST00000310018.2	-	21	2614_2615	c.2332_2333insG	c.(2332-2334)gttfs	p.V778fs	ATP6V0A4_ENST00000353492.4_Frame_Shift_Ins_p.V778fs|ATP6V0A4_ENST00000393054.1_Frame_Shift_Ins_p.V778fs	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	778					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AATAATAAAAACCCCGACGATT	0.53																																						ENST00000310018.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36	GRCh37	CD023241	ATP6V0A4	D		c.(2332-2334)tttfs		ATPase, H+ transporting, lysosomal V0 subunit a4																																				SO:0001589	frameshift_variant	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138394465_138394466insC	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.2333dupG	7.37:g.138394469_138394469dupC	ENSP00000308122:p.Val778fs					ATP6V0A4_ENST00000393054.1_Frame_Shift_Ins_p.F778fs|ATP6V0A4_ENST00000353492.4_Frame_Shift_Ins_p.F778fs	p.F778fs	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN			21	2614_2615	-			778					A4D1R4|A8KA80|Q32M47	Frame_Shift_Ins	INS	ENST00000310018.2	37	c.2332_2333insG	CCDS5849.1																																																																																				0.530	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		10	870						10	870	---	---	---	---
KIAA1462	57608	broad.mit.edu	37	10	30316501	30316503	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr10:30316501_30316503delCTG	ENST00000375377.1	-	3	2675_2677	c.2574_2576delCAG	c.(2572-2577)agcagt>agt	p.858_859SS>S		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	858	Ser-rich.				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						ACTCTCCTCActgctgctgctgc	0.571																																						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.(2572-2577)agt>ag		KIAA1462				16,121,147,3686		2,1,1,10,9,1,101,3,139,1718						-7.0	0.0			46	4,50,242,7744		0,0,1,3,0,0,50,8,225,3733	no	codingComplex	KIAA1462	NM_020848.2		2,1,2,13,9,1,151,11,364,5451	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		3.6816,7.1537,4.8293				20,171,389,11430				SO:0001651	inframe_deletion	57608							g.chr10:30316501_30316503delCTG	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.2574_2576delCAG	10.37:g.30316510_30316512delCTG	ENSP00000364526:p.Ser859del						p.SS858del	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	2675_2677	-			858			Ser-rich.		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	In_Frame_Del	DEL	ENST00000375377.1	37	c.2574_2576delCAG	CCDS41500.1																																																																																				0.571	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		8	337						8	337	---	---	---	---
KIF20B	9585	broad.mit.edu	37	10	91498335	91498337	+	In_Frame_Del	DEL	AAG	AAG	-	rs149688226	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr10:91498335_91498337delAAG	ENST00000371728.3	+	20	3802_3804	c.3737_3739delAAG	c.(3736-3741)aaagaa>aaa	p.E1251del	KIF20B_ENST00000416354.1_In_Frame_Del_p.E1281del|KIF20B_ENST00000260753.4_In_Frame_Del_p.E1211del|KIF20B_ENST00000394289.2_In_Frame_Del_p.E1251del|KIF20B_ENST00000478929.1_3'UTR	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1251	Poly-Glu.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CTTCAATTAAAAGAAGAAGAAGA	0.276														65	0.0129792	0.0454	0.0	5008	,	,		19361	0.001		0.0	False		,,,				2504	0.0041					ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(3826-3831)aaa>a		kinesin family member 20B																																				SO:0001651	inframe_deletion	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91498335_91498337delAAG	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.3737_3739delAAG	10.37:g.91498344_91498346delAAG	ENSP00000360793:p.Glu1251del					KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_In_Frame_Del_p.KE1206del|KIF20B_ENST00000394289.2_In_Frame_Del_p.KE1246del|KIF20B_ENST00000371728.3_In_Frame_Del_p.KE1246del	p.KE1276del			Q96Q89	KI20B_HUMAN			20	3899_3901	+			1246					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	In_Frame_Del	DEL	ENST00000371728.3	37	c.3827_3829delAAG																																																																																					0.276	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		7	251						7	251	---	---	---	---
NLRP6	171389	broad.mit.edu	37	11	281553	281555	+	In_Frame_Del	DEL	GAG	GAG	-	rs377505007		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:281553_281555delGAG	ENST00000312165.5	+	4	1819_1821	c.1819_1821delGAG	c.(1819-1821)gagdel	p.E611del	NLRP6_ENST00000534750.1_In_Frame_Del_p.E611del	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGAAGAGCCAGAGGAGGAGGAGG	0.67																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1819-1821)del		NLR family, pyrin domain containing 6																																				SO:0001651	inframe_deletion	171389					cytoplasm	ATP binding	g.chr11:281553_281555delGAG	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1819_1821delGAG	11.37:g.281562_281564delGAG	ENSP00000309767:p.Glu611del					NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del	p.E611del	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	2024_2026	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	611			Poly-Glu.		A8K9F3|E9PJZ8	In_Frame_Del	DEL	ENST00000312165.5	37	c.1819_1821delGAG	CCDS7693.1																																																																																				0.670	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		9	593						9	593	---	---	---	---
OR52E6	390078	broad.mit.edu	37	11	5862708	5862723	+	Frame_Shift_Del	DEL	GCTGGTGAGGATCATG	GCTGGTGAGGATCATG	-	rs373651554|rs200675437|rs554722938		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:5862708_5862723delGCTGGTGAGGATCATG	ENST00000329322.5	-	1	404_419	c.405_420delCATGATCCTCACCAGC	c.(403-420)accatgatcctcaccagcfs	p.TMILTS135fs	OR52E6_ENST00000379946.2_Frame_Shift_Del_p.TMILTS139fs|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T143T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGATGATTTTGCTGGTGAGGATCATGGTGTACCAAA	0.477																																						ENST00000329322.5																			1	Substitution - coding silent(1)	p.T143T(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(403-420)acfs		olfactory receptor, family 52, subfamily E, member 6																																				SO:0001589	frameshift_variant	390078				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5862708_5862723delGCTGGTGAGGATCATG	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"""GPCR / Class A : Olfactory receptors"""	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.405_420delCATGATCCTCACCAGC	11.37:g.5862708_5862723delGCTGGTGAGGATCATG	ENSP00000328878:p.Thr135fs					TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Frame_Shift_Del_p.TMILTS139fs	p.TMILTS135fs	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	404_419	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	135					Q6IFF8	Frame_Shift_Del	DEL	ENST00000329322.5	37	c.405_420delCATGATCCTCACCAGC	CCDS53597.1																																																																																				0.477	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		9	910						9	910	---	---	---	---
NAV2	89797	broad.mit.edu	37	11	19955425	19955426	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:19955425_19955426insG	ENST00000396087.3	+	8	1803_1804	c.1704_1705insG	c.(1705-1707)gggfs	p.G569fs	NAV2_ENST00000396085.1_Frame_Shift_Ins_p.G546fs|NAV2_ENST00000349880.4_Frame_Shift_Ins_p.G546fs|NAV2_ENST00000540292.1_Frame_Shift_Ins_p.G500fs|NAV2_ENST00000360655.4_Frame_Shift_Ins_p.G482fs|NAV2_ENST00000527559.2_Frame_Shift_Ins_p.G498fs	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	569					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCATCCCCAAAGGGGGGAAGCT	0.554																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(1633-1638)aaggggfs		neuron navigator 2																																				SO:0001589	frameshift_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:19955425_19955426insG	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.1710dupG	11.37:g.19955431_19955431dupG	ENSP00000379396:p.Gly569fs					NAV2_ENST00000349880.4_Frame_Shift_Ins_p.KG545fs|NAV2_ENST00000360655.4_Frame_Shift_Ins_p.KG481fs|NAV2_ENST00000396087.3_Frame_Shift_Ins_p.KG568fs|NAV2_ENST00000540292.1_Frame_Shift_Ins_p.KG499fs|NAV2_ENST00000527559.2_Frame_Shift_Ins_p.KG497fs	p.KG545fs	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			7	1996_1997	+			568					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Frame_Shift_Ins	INS	ENST00000396087.3	37	c.1635_1636insG	CCDS58126.1																																																																																				0.554	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		13	551						13	551	---	---	---	---
TMEM5	10329	broad.mit.edu	37	12	64205801	64205803	+	IGR	DEL	GAA	GAA	-	rs199636287|rs567094155	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr12:64205801_64205803delGAA	ENST00000261234.6	+	0	1918				TMEM5-AS1_ENST00000546214.1_RNA	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5							integral component of plasma membrane (GO:0005887)				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		acaaggagaggaagaggaagagg	0.498														39	0.00778754	0.0	0.0029	5008	,	,		16650	0.0		0.0229	False		,,,				2504	0.0143					ENST00000546214.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr12:64205801_64205803delGAA	AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730		12.37:g.64205801_64205803delGAA														0	467	-								A8K017|Q6PKD6	RNA	DEL	ENST00000261234.6	37		CCDS8966.1																																																																																				0.498	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400821.1	NM_014254		5	11						5	11	---	---	---	---
TMEM19	55266	broad.mit.edu	37	12	72094757	72094757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr12:72094757delT	ENST00000266673.5	+	6	1587	c.993delT	c.(991-993)ggtfs	p.G331fs		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	331						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGCTTGGGGTTTTTGGCCCA	0.433																																						ENST00000266673.5																			0				large_intestine(1)|lung(8)	9						c.(991-993)ggfs		transmembrane protein 19							199.0	184.0	189.0					12																	72094757		2203	4300	6503	SO:0001589	frameshift_variant	55266					integral to membrane		g.chr12:72094757delT	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.993delT	12.37:g.72094757delT	ENSP00000266673:p.Gly331fs						p.G331fs	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN		GBM - Glioblastoma multiforme(134;0.044)	6	1587	+		Breast(359;0.0889)	331					B2RDL2|Q53FY3|Q9NV41	Frame_Shift_Del	DEL	ENST00000266673.5	37	c.993delT	CCDS9002.1																																																																																				0.433	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	NM_018279		8	1045						8	1045	---	---	---	---
DPPA3P2	400206	broad.mit.edu	37	14	36841115	36841115	+	RNA	DEL	T	T	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr14:36841115delT	ENST00000557188.1	+	0	746									developmental pluripotency associated 3 pseudogene 2																		TTCTTGCACCTTTTTTTCTTG	0.358																																						ENST00000557188.1																			0																																																			0							g.chr14:36841115delT			14q13.3	2012-07-04			ENSG00000188831	ENSG00000188831			20417	pseudogene	pseudogene							Standard	NG_023379		Approved	STELLAR			OTTHUMG00000170728		14.37:g.36841115delT														0	746	+									RNA	DEL	ENST00000557188.1	37																																																																																						0.358	DPPA3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000410122.1			8	520						8	520	---	---	---	---
ELMSAN1	91748	broad.mit.edu	37	14	74205926	74205928	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr14:74205926_74205928delCTG	ENST00000286523.5	-	2	1566_1568	c.784_786delCAG	c.(784-786)cagdel	p.Q262del	ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	262	Gln-rich.|Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GTAGGgctgcctgctgctgctgc	0.65																																						ENST00000286523.5																			0											c.(784-786)del		ELM2 and Myb/SANT-like domain containing 1																																				SO:0001651	inframe_deletion	91748							g.chr14:74205926_74205928delCTG	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.784_786delCAG	14.37:g.74205935_74205937delCTG	ENSP00000286523:p.Gln262del					ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del	p.Q262del	NM_194278.3	NP_919254.2					2	1566_1568	-								Q6PK13|Q6PK59|Q6ZS23	In_Frame_Del	DEL	ENST00000286523.5	37	c.784_786delCAG	CCDS9819.1																																																																																				0.650	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		9	131						9	131	---	---	---	---
IGHV3-48	28424	broad.mit.edu	37	14	106993939	106993941	+	RNA	DEL	TAC	TAC	-	rs199815306|rs144292224	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr14:106993939_106993941delTAC	ENST00000390624.2	-	0	302_304									immunoglobulin heavy variable 3-48																		TAGTATATGGTACTACTACTACT	0.502																																						ENST00000390624.2																			0																	307,3283		14,279,1502						-5.2	0.0		dbSNP_134	157	272,7558		29,214,3672	no	intergenic				43,493,5174	A1A1,A1R,RR		3.4738,8.5515,5.0701				579,10841						0							g.chr14:106993939_106993941delTAC	M99675		14q32.33	2012-02-08			ENSG00000211964	ENSG00000211964		"""Immunoglobulins / IGH locus"""	5606	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151959		14.37:g.106993948_106993950delTAC														0	302_304	-									RNA	DEL	ENST00000390624.2	37																																																																																						0.502	IGHV3-48-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324605.1	NG_001019		7	1007						7	1007	---	---	---	---
IL4R	3566	broad.mit.edu	37	16	27373787	27373789	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr16:27373787_27373789delGAG	ENST00000395762.2	+	11	1373_1375	c.1114_1116delGAG	c.(1114-1116)gagdel	p.E376del	IL4R_ENST00000170630.2_In_Frame_Del_p.E376del|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_In_Frame_Del_p.E361del|IL4R_ENST00000543915.2_In_Frame_Del_p.E376del	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	376	Poly-Glu.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GGTGGAGTGTGAGGAGGAGGAGG	0.591																																						ENST00000395762.2																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(1114-1116)del		interleukin 4 receptor																																				SO:0001651	inframe_deletion	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27373787_27373789delGAG	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1114_1116delGAG	16.37:g.27373796_27373798delGAG	ENSP00000379111:p.Glu376del					IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000543915.2_In_Frame_Del_p.E376del|IL4R_ENST00000170630.2_In_Frame_Del_p.E376del|IL4R_ENST00000380922.3_In_Frame_Del_p.E361del	p.E376del	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN			11	1373_1375	+			376			Poly-Glu.		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	In_Frame_Del	DEL	ENST00000395762.2	37	c.1114_1116delGAG	CCDS10629.1																																																																																				0.591	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			8	288						8	288	---	---	---	---
AC012322.1	0	broad.mit.edu	37	16	64294939	64294940	+	lincRNA	INS	-	-	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr16:64294939_64294940insT	ENST00000561657.1	-	0	584																											TATTTTCTTTCTTTTTTTTTAA	0.396																																						ENST00000561657.1																			0																																																			0							g.chr16:64294939_64294940insT																													16.37:g.64294948_64294948dupT														0	584	-									RNA	INS	ENST00000561657.1	37																																																																																						0.396	AC012322.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000420578.1			7	166						7	166	---	---	---	---
ACD	65057	broad.mit.edu	37	16	67693646	67693648	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr16:67693646_67693648delGCA	ENST00000393919.4	-	3	815_817	c.551_553delTGC	c.(550-555)ctgcag>cag	p.L184del	PARD6A_ENST00000602551.1_5'Flank|PARD6A_ENST00000458121.2_5'Flank|PARD6A_ENST00000219255.3_5'Flank|ACD_ENST00000219251.8_In_Frame_Del_p.L181del			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	184					intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)	p.L181delL(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCGCAGTCCTGCAGCAGCAGCAG	0.65																																						ENST00000219251.8																			1	Deletion - In frame(1)	p.L181delL(1)	large_intestine(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(541-546)cag>c		adrenocortical dysplasia homolog (mouse)																																				SO:0001651	inframe_deletion	65057				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	g.chr16:67693646_67693648delGCA	AF070535	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			ENSG00000102977	ENSG00000102977			25070	protein-coding gene	gene with protein product	"""TIN2 interacting protein 1"", ""POT1 and TIN2 organizing protein"""	609377				15231715, 15181449	Standard	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	Q96AP0	OTTHUMG00000137547	ENST00000393919.4:c.551_553delTGC	16.37:g.67693655_67693657delGCA	ENSP00000377496:p.Leu184del					ACD_ENST00000393919.4_In_Frame_Del_p.LQ184del	p.LQ181del	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	3	873_875	-		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	184					Q562H5|Q9H8F9	In_Frame_Del	DEL	ENST00000393919.4	37	c.542_544delTGC	CCDS42181.1																																																																																				0.650	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268880.1	NM_022914		7	659						7	659	---	---	---	---
ANKRD11	29123	broad.mit.edu	37	16	89349640	89349641	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr16:89349640_89349641insT	ENST00000301030.4	-	9	3769_3770	c.3309_3310insA	c.(3307-3312)aaagatfs	p.D1104fs	ANKRD11_ENST00000378330.2_Frame_Shift_Ins_p.D1104fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1104	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCTTGTCATCTTTTTTTTCAG	0.465																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(3307-3312)aaatgafs		ankyrin repeat domain 11																																				SO:0001589	frameshift_variant	29123					nucleus		g.chr16:89349640_89349641insT	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.3310dupA	16.37:g.89349648_89349648dupT	ENSP00000301030:p.Asp1104fs					ANKRD11_ENST00000378330.2_Frame_Shift_Ins_p.*1104fs	p.*1104fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	3769_3770	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1104			Lys-rich.		Q6NTG1|Q6QMF8	Frame_Shift_Ins	INS	ENST00000301030.4	37	c.3309_3310insA	CCDS32513.1																																																																																				0.465	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		8	881						8	881	---	---	---	---
TCF25	22980	broad.mit.edu	37	16	89951019	89951020	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr16:89951019_89951020insA	ENST00000263346.8	+	3	440_441	c.384_385insA	c.(385-387)aaafs	p.K129fs	TCF25_ENST00000263347.7_5'Flank|TCF25_ENST00000563406.1_3'UTR	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	129					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TCCGGAAGAAGAAAAAAAAACA	0.446																																						ENST00000263346.8																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18						c.(382-387)aaaaaafs		transcription factor 25 (basic helix-loop-helix)																																				SO:0001589	frameshift_variant	22980				heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr16:89951019_89951020insA	AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.393dupA	16.37:g.89951028_89951028dupA	ENSP00000263346:p.Lys129fs					TCF25_ENST00000563406.1_3'UTR	p.KK128fs	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0288)	3	440_441	+		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)	128					Q2MK75|Q9UPV3	Frame_Shift_Ins	INS	ENST00000263346.8	37	c.384_385insA	CCDS10987.1																																																																																				0.446	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2	NM_014972		8	148						8	148	---	---	---	---
KDM6B	23135	broad.mit.edu	37	17	7750177	7750178	+	In_Frame_Ins	INS	-	-	ACC	rs375218857|rs61462443		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:7750177_7750178insACC	ENST00000448097.2	+	9	1083_1084	c.752_753insACC	c.(751-756)ttacca>ttACCacca	p.264_265insP	KDM6B_ENST00000254846.5_In_Frame_Ins_p.264_265insP			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	264	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ccaccaccattaccaccaccac	0.614																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(751-753)tcc>tACCcc		lysine (K)-specific demethylase 6B																																				SO:0001652	inframe_insertion	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7750177_7750178insACC	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.789_791dupACC	17.37:g.7750184_7750186dupACC	ENSP00000412513:p.Pro265_Pro266dup					KDM6B_ENST00000448097.2_In_Frame_Ins_p.251_251S>YP	p.251_251S>YP	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			9	1141_1142	+			251			Pro-rich.		C9IZ40|Q96G33	In_Frame_Ins	INS	ENST00000448097.2	37	c.752_753insACC																																																																																					0.614	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		7	96						7	96	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27027202	27027204	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:27027202_27027204delAGC	ENST00000314616.6	+	34	4856_4858	c.4573_4575delAGC	c.(4573-4575)agcdel	p.S1528del	SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1528	Poly-Ser.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CATCACCCCTAGCAGCAGCAGCA	0.537																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4573-4575)del		suppressor of Ty 6 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27027202_27027204delAGC	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4573_4575delAGC	17.37:g.27027211_27027213delAGC	ENSP00000319104:p.Ser1528del					SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			34	4856_4858	+	Lung NSC(42;0.00431)		1528			Poly-Ser.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	In_Frame_Del	DEL	ENST00000314616.6	37	c.4573_4575delAGC	CCDS32596.1																																																																																				0.537	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		15	1192						15	1192	---	---	---	---
KRTAP9-1	728318	broad.mit.edu	37	17	39346425	39346427	+	In_Frame_Del	DEL	GTG	GTG	-	rs376633756		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:39346425_39346427delGTG	ENST00000398470.1	+	1	287_289	c.287_289delGTG	c.(286-291)tgtggc>tgc	p.G97del	KRTAP9-1_ENST00000377723.3_Intron|KRTAP9-1_ENST00000318329.5_Splice_Site_p.46_47CG>W	NM_001190460.1	NP_001177389.1	A8MXZ3	KRA91_HUMAN	keratin associated protein 9-1	97	30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].					keratin filament (GO:0045095)				breast(1)|lung(3)	4						TCCAGCTGCTGTGGCCAAACCAG	0.606																																						ENST00000398470.1																			0				breast(1)|lung(3)	4						c.(286-291)tgc>t		keratin associated protein 9-1																																				SO:0001651	inframe_deletion	0					keratin filament		g.chr17:39346425_39346427delGTG	AC006070	CCDS56029.1	17q21.2	2010-06-03			ENSG00000240542	ENSG00000240542		"""Keratin associated proteins"""	18912	protein-coding gene	gene with protein product			"""keratin associated protein 9-like 3"""	KRTAP9L3			Standard	NM_001190460		Approved	KAP9.1	uc021txf.1	A8MXZ3	OTTHUMG00000133636	ENST00000398470.1:c.287_289delGTG	17.37:g.39346425_39346427delGTG	ENSP00000381488:p.Gly97del					KRTAP9-1_ENST00000377723.3_Intron|KRTAP9-1_ENST00000318329.5_Splice_Site_p.CG46_splice	p.CG96del	NM_001190460.1	NP_001177389.1	A8MXZ3	KRA91_HUMAN			1	287_289	+			96			30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].			In_Frame_Del	DEL	ENST00000398470.1	37	c.287_289delGTG	CCDS56029.1																																																																																				0.606	KRTAP9-1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257781.1			10	100						10	100	---	---	---	---
STAT5A	6776	broad.mit.edu	37	17	40444033	40444033	+	Frame_Shift_Del	DEL	G	G	-	rs202112433		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:40444033delG	ENST00000345506.4	+	5	971	c.329delG	c.(328-330)cggfs	p.R110fs	STAT5A_ENST00000590949.1_Frame_Shift_Del_p.R110fs|STAT5A_ENST00000452307.2_Frame_Shift_Del_p.R110fs|STAT5A_ENST00000588868.1_Frame_Shift_Del_p.R110fs|STAT5A_ENST00000546010.2_Intron	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	110					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CGCTGCATCCGGCACATTCTG	0.562																																						ENST00000345506.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(328-330)cgfs		signal transducer and activator of transcription 5A							86.0	76.0	80.0					17																	40444033		2203	4300	6503	SO:0001589	frameshift_variant	6776				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr17:40444033delG	U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"""SH2 domain containing"""	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.329delG	17.37:g.40444033delG	ENSP00000341208:p.Arg110fs					STAT5A_ENST00000546010.2_Intron|STAT5A_ENST00000452307.2_Frame_Shift_Del_p.R110fs|STAT5A_ENST00000588868.1_Frame_Shift_Del_p.R110fs|STAT5A_ENST00000590949.1_Frame_Shift_Del_p.R110fs	p.R110fs	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	5	971	+		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)	110					Q1KLZ6	Frame_Shift_Del	DEL	ENST00000345506.4	37	c.329delG	CCDS11424.1																																																																																				0.562	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319804.1	NM_003152		11	318						11	318	---	---	---	---
FTSJ3	117246	broad.mit.edu	37	17	61901501	61901503	+	In_Frame_Del	DEL	TCC	TCC	-	rs373166853		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:61901501_61901503delTCC	ENST00000427159.2	-	12	1740_1742	c.1095_1097delGGA	c.(1093-1098)gaggaa>gaa	p.365_366EE>E	FTSJ3_ENST00000580295.1_5'Flank	NM_017647.3	NP_060117.3			FtsJ homolog 3 (E. coli)											breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GTTCAGTTGTtcctcctcctcct	0.562																																						ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1093-1098)gaa>ga		FtsJ homolog 3 (E. coli)																																				SO:0001651	inframe_deletion	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61901501_61901503delTCC	AF327355	CCDS11644.1	17q23.3	2014-09-11			ENSG00000108592	ENSG00000108592			17136	protein-coding gene	gene with protein product	"""SPB1 RNA methyltransferase homolog (S. cerevisiae)"""						Standard	NM_017647		Approved	SPB1	uc002jca.3	Q8IY81	OTTHUMG00000179012	ENST00000427159.2:c.1095_1097delGGA	17.37:g.61901510_61901512delTCC	ENSP00000396673:p.Glu366del						p.EE365del	NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN			12	1740_1742	-			365						In_Frame_Del	DEL	ENST00000427159.2	37	c.1095_1097delGGA	CCDS11644.1																																																																																				0.562	FTSJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444386.1			7	802						7	802	---	---	---	---
ADNP2	22850	broad.mit.edu	37	18	77894260	77894261	+	Frame_Shift_Ins	INS	-	-	C	rs560454696		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr18:77894260_77894261insC	ENST00000262198.4	+	4	1419_1420	c.964_965insC	c.(964-966)tccfs	p.S322fs		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	322	Pro-rich.				cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A325fs*59(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CCTCACTCATTCCCCCCCTGCT	0.644																																						ENST00000262198.4																			1	Insertion - Frameshift(1)	p.A325fs*59(1)	large_intestine(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(964-966)cccfs		ADNP homeobox 2																																				SO:0001589	frameshift_variant	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77894260_77894261insC	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.971dupC	18.37:g.77894267_77894267dupC	ENSP00000262198:p.Ser322fs						p.P322fs	NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	1419_1420	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	322			Pro-rich.		A8K951|O94943|Q9H9P3	Frame_Shift_Ins	INS	ENST00000262198.4	37	c.964_965insC	CCDS32853.1																																																																																				0.644	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		9	374						9	374	---	---	---	---
CNN2	1265	broad.mit.edu	37	19	1037646	1037646	+	Frame_Shift_Del	DEL	C	C	-	rs371146424		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:1037646delC	ENST00000263097.4	+	7	1040	c.677delC	c.(676-678)accfs	p.T226fs	CNN2_ENST00000606983.1_3'UTR|AC011558.5_ENST00000585757.1_RNA|ABCA7_ENST00000263094.6_5'Flank|CNN2_ENST00000562958.2_Frame_Shift_Del_p.T247fs|CNN2_ENST00000565096.2_Frame_Shift_Del_p.T215fs|CNN2_ENST00000348419.3_Frame_Shift_Del_p.T187fs	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	226					actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCCGGGACCCGGCGGCAC	0.632																																						ENST00000263097.4																			0				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10						c.(676-678)acfs		calponin 2			,	229,3873		14,201,1836	77.0	90.0	86.0		,	4.3	1.0	19		87	311,7625		16,279,3673	no	frameshift,frameshift	CNN2	NM_201277.1,NM_004368.2	,	30,480,5509	A1A1,A1R,RR		3.9189,5.5826,4.4858	,	,	1037646	540,11498	2119	4148	6267	SO:0001589	frameshift_variant	1265				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding	g.chr19:1037646delC	D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.677delC	19.37:g.1037646delC	ENSP00000263097:p.Thr226fs					CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000565096.2_Frame_Shift_Del_p.T215fs|CNN2_ENST00000348419.3_Frame_Shift_Del_p.T187fs|CNN2_ENST00000562958.2_Frame_Shift_Del_p.T247fs	p.T226fs	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1040	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	226					A5D8U8|A6NFI4|D6W5X9|Q92578	Frame_Shift_Del	DEL	ENST00000263097.4	37	c.677delC	CCDS12053.1																																																																																				0.632	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420293.3	NM_004368		7	783						7	783	---	---	---	---
GTF2F1	2962	broad.mit.edu	37	19	6381791	6381793	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:6381791_6381793delCTT	ENST00000394456.5	-	7	1215_1217	c.751_753delAAG	c.(751-753)aagdel	p.K251del	PSPN_ENST00000597721.1_5'Flank|GTF2F1_ENST00000429701.2_In_Frame_Del_p.K166del	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	251					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						CGTCTGAACCCTTCTTCTTCTTC	0.611																																						ENST00000394456.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						c.(751-753)del		general transcription factor IIF, polypeptide 1, 74kDa																																				SO:0001651	inframe_deletion	2962				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding	g.chr19:6381791_6381793delCTT		CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"""General transcription factors"""	4652	protein-coding gene	gene with protein product		189968	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.751_753delAAG	19.37:g.6381800_6381802delCTT	ENSP00000377969:p.Lys251del					GTF2F1_ENST00000429701.2_In_Frame_Del_p.K166del	p.K251del	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN			7	1215_1217	-			251					B2RCS0|Q9BWN0	In_Frame_Del	DEL	ENST00000394456.5	37	c.751_753delAAG	CCDS12165.1																																																																																				0.611	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1	NM_002096		7	227						7	227	---	---	---	---
COPE	11316	broad.mit.edu	37	19	19030139	19030140	+	Frame_Shift_Ins	INS	-	-	G	rs546296825		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:19030139_19030140insG	ENST00000262812.4	-	1	66_67	c.18_19insC	c.(16-21)cccggcfs	p.G7fs	COPE_ENST00000349893.4_Frame_Shift_Ins_p.G7fs|AC002985.3_ENST00000596918.1_Intron|COPE_ENST00000600932.1_Frame_Shift_Ins_p.G7fs|COPE_ENST00000351079.4_Frame_Shift_Ins_p.G7fs|DDX49_ENST00000247003.4_5'Flank|DDX49_ENST00000438170.2_5'Flank	NM_007263.3	NP_009194.2	O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon	7					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|membrane organization (GO:0061024)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.P6P(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						GAGGCCGGGCCGGGGGCCGGAG	0.609																																						ENST00000600932.1																			1	Substitution - coding silent(1)	p.P6P(1)	lung(1)	breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						c.(16-21)ccgcccfs		coatomer protein complex, subunit epsilon																																				SO:0001589	frameshift_variant	11316				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	binding|structural molecule activity	g.chr19:19030139_19030140insG	AJ131182	CCDS12387.1, CCDS12388.1, CCDS12389.1	19p13.11	2008-02-05				ENSG00000105669			2234	protein-coding gene	gene with protein product		606942				10469566	Standard	NM_007263		Approved	epsilon-COP	uc002nkk.3	O14579		ENST00000262812.4:c.19dupC	19.37:g.19030144_19030144dupG	ENSP00000262812:p.Gly7fs					AC002985.3_ENST00000596918.1_Intron|COPE_ENST00000262812.4_Frame_Shift_Ins_p.P7fs|COPE_ENST00000351079.4_Frame_Shift_Ins_p.P7fs|COPE_ENST00000349893.4_Frame_Shift_Ins_p.P7fs	p.P7fs			O14579	COPE_HUMAN			1	49_50	-			7					A6NE29|A6NKA3|O76097|Q6IBB8|Q9UGP6	Frame_Shift_Ins	INS	ENST00000262812.4	37	c.18_19insC	CCDS12387.1																																																																																				0.609	COPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464801.1	NM_007263		7	478						7	478	---	---	---	---
FFAR2	2867	broad.mit.edu	37	19	35940788	35940790	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:35940788_35940790delCTG	ENST00000599180.2	+	2	252_254	c.172_174delCTG	c.(172-174)ctgdel	p.L62del	FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	62					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGACCTCCTCCTGCTGCTGCTGC	0.645																																					GBM(40;139 809 9833 23358 48736)	ENST00000599180.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22						c.(172-174)del		free fatty acid receptor 2																																				SO:0001651	inframe_deletion	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35940788_35940790delCTG	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.172_174delCTG	19.37:g.35940797_35940799delCTG	ENSP00000473159:p.Leu62del					FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del	p.L62del			O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	252_254	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		62					B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	In_Frame_Del	DEL	ENST00000599180.2	37	c.172_174delCTG	CCDS12461.1																																																																																				0.645	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		8	231						8	231	---	---	---	---
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000301187.4_In_Frame_Del_p.E61del|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(199-204)gat>ga		transmembrane channel-like 4			,	38,3,4223		14,0,10,0,3,2105					,	-8.3	0.0			104	37,2,8215		15,0,7,0,2,4103	no	codingComplex,codingComplex	TMC4	NM_144686.2,NM_001145303.1	,	29,0,17,0,5,6208	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4725,0.9615,0.6391	,	,		75,5,12438				SO:0001651	inframe_deletion	147798					integral to membrane		g.chr19:54675747_54675749delTCC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.201_203delGGA	19.37:g.54675756_54675758delTCC	ENSP00000365776:p.Glu67del					TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	p.ED67del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			2	332_334	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		67			Poly-Glu.		Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	ENST00000376591.4	37	c.201_203delGGA	CCDS46174.1																																																																																				0.645	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			10	452						10	452	---	---	---	---
MED15	51586	broad.mit.edu	37	22	20920814	20920816	+	In_Frame_Del	DEL	CAG	CAG	-	rs67182670|rs535773989	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr22:20920814_20920816delCAG	ENST00000263205.7	+	7	820_822	c.751_753delCAG	c.(751-753)cagdel	p.Q262del	MED15_ENST00000406969.1_In_Frame_Del_p.Q236del|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000541476.1_In_Frame_Del_p.Q236del|MED15_ENST00000292733.7_In_Frame_Del_p.Q262del|MED15_ENST00000542773.1_In_Frame_Del_p.Q67del|MED15_ENST00000382974.2_In_Frame_Del_p.Q191del|MED15_ENST00000425759.2_In_Frame_Del_p.Q151del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	262	Poly-Gln.		Missing.	Missing (in Ref. 3; BAB85034). {ECO:0000305}.	gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q250_Q251insQ(4)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			acaacagcaacagcagcagcagc	0.591																																						ENST00000263205.7																			4	Insertion - In frame(4)	p.Q250_Q251insQ(4)	ovary(2)|large_intestine(2)	central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(751-753)del		mediator complex subunit 15																																				SO:0001651	inframe_deletion	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20920814_20920816delCAG	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.751_753delCAG	22.37:g.20920823_20920825delCAG	ENSP00000263205:p.Gln262del					MED15_ENST00000406969.1_In_Frame_Del_p.Q236del|MED15_ENST00000542773.1_In_Frame_Del_p.Q67del|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000541476.1_In_Frame_Del_p.Q236del|MED15_ENST00000425759.2_In_Frame_Del_p.Q151del|MED15_ENST00000292733.7_In_Frame_Del_p.Q262del|MED15_ENST00000382974.2_In_Frame_Del_p.Q191del	p.Q262del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		7	820_822	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	262	Missing (in Ref. 3; BAB85034).	Missing.	Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	ENST00000263205.7	37	c.751_753delCAG	CCDS33602.1																																																																																				0.591	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		11	198						11	198	---	---	---	---
