#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
HECTD1	25831	broad.mit.edu	37	14	31576011	31576011	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr14:31576011C>T	ENST00000399332.1	-	38	7555	c.7067G>A	c.(7066-7068)aGa>aAa	p.R2356K	HECTD1_ENST00000553700.1_Missense_Mutation_p.R2356K	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2356	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.R2356K(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AAATCTGGCTCTGTGTGGGTT	0.358																																						ENST00000399332.1																			1	Substitution - Missense(1)	p.R2356K(1)	kidney(1)	breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(7066-7068)aGa>aAa		HECT domain containing E3 ubiquitin protein ligase 1							77.0	71.0	72.0					14																	31576011		1799	4065	5864	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31576011C>T	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.7067G>A	14.37:g.31576011C>T	ENSP00000382269:p.Arg2356Lys		Somatic				HECTD1_ENST00000553700.1_Missense_Mutation_p.R2356K	p.R2356K	NM_015382.2	NP_056197.2	WXS	Illumina GAIIx	Phase_I	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	38	7555	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		2356			HECT.		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.7067G>A	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.291848|4.291848	0.80914|0.80914	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000554882|ENST00000553700;ENST00000261312;ENST00000399332	.|T;T	.|0.57752	.|0.38;0.38	5.96|5.96	5.96|5.96	0.96718|0.96718	.|HECT (4);	.|0.000000	.|0.85682	.|U	.|0.000000	T|T	0.67618|0.67618	0.2912|0.2912	L|L	0.52364|0.52364	1.645|1.645	0.80722|0.80722	D|D	1|1	.|P	.|0.49185	.|0.92	.|D	.|0.63957	.|0.92	T|T	0.58504|0.58504	-0.7625|-0.7625	5|10	.|0.27785	.|T	.|0.31	-11.4768|-11.4768	20.4082|20.4082	0.99013|0.99013	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2356	.|Q9ULT8	.|HECD1_HUMAN	K|K	722|2356;2358;2356	.|ENSP00000450697:R2356K;ENSP00000382269:R2356K	.|ENSP00000261312:R2358K	E|R	-|-	1|2	0|0	HECTD1|HECTD1	30645762|30645762	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.484000|7.484000	0.81180|0.81180	2.814000|2.814000	0.96858|0.96858	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.358	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			11	71	0	0	0	1	0	11	71				
OR4P4	81300	broad.mit.edu	37	11	55405910	55405910	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:55405910T>C	ENST00000314612.2	+	1	77	c.77T>C	c.(76-78)tTt>tCt	p.F26S		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F26S(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GTCCTCTGCTTTGTATTATTT	0.353																																						ENST00000314612.2																			1	Substitution - Missense(1)	p.F26S(1)	kidney(1)	autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(76-78)tTt>tCt		olfactory receptor, family 4, subfamily P, member 4							125.0	116.0	119.0					11																	55405910		2181	4027	6208	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55405910T>C	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.77T>C	11.37:g.55405910T>C	ENSP00000324831:p.Phe26Ser		Somatic					p.F26S	NM_001004124.1	NP_001004124.1	WXS	Illumina GAIIx	Phase_I	Q8NGL7	OR4P4_HUMAN			1	77	+			26						Missense_Mutation	SNP	ENST00000314612.2	37	c.77T>C	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.056135	0.36277	.	.	ENSG00000181927	ENST00000314612	T	0.04551	3.6	5.02	3.89	0.44902	.	0.000000	0.41938	D	0.000783	T	0.16342	0.0393	M	0.71296	2.17	0.23611	N	0.9973	D	0.58620	0.983	D	0.65773	0.938	T	0.02339	-1.1174	10	0.56958	D	0.05	-16.6902	9.6549	0.39919	0.0:0.0841:0.0:0.9158	.	26	Q8NGL7	OR4P4_HUMAN	S	26	ENSP00000324831:F26S	ENSP00000324831:F26S	F	+	2	0	OR4P4	55162486	0.999000	0.42202	0.084000	0.20598	0.222000	0.24845	3.586000	0.53950	0.773000	0.33404	0.509000	0.49947	TTT		0.353	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		98	239	0	0	0	1	0	98	239				
PISD	23761	broad.mit.edu	37	22	32058162	32058162	+	Silent	SNP	T	T	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr22:32058162T>C	ENST00000439502.2	-	1	256	c.33A>G	c.(31-33)ggA>ggG	p.G11G	PISD_ENST00000336566.4_Silent_p.G11G			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	11					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylserine decarboxylase activity (GO:0004609)	p.G11G(1)		central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	CGTGCAGTAATCCCAGACATC	0.652											OREG0003531	type=REGULATORY REGION|Gene=PISD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000439502.2																			1	Substitution - coding silent(1)	p.G11G(1)	kidney(1)	central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12						c.(31-33)ggA>ggG		phosphatidylserine decarboxylase	Phosphatidylserine(DB00144)						220.0	204.0	209.0					22																	32058162		876	1991	2867	SO:0001819	synonymous_variant	23761				phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity	g.chr22:32058162T>C		CCDS13899.1	22q12.2	2011-01-25			ENSG00000241878	ENSG00000241878	4.1.1.65		8999	protein-coding gene	gene with protein product		612770				10591208	Standard	NM_014338		Approved	dJ858B16.2, PSDC	uc003alk.2	Q9UG56	OTTHUMG00000030252	ENST00000439502.2:c.33A>G	22.37:g.32058162T>C			Somatic	OREG0003531	type=REGULATORY REGION|Gene=PISD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	829	PISD_ENST00000336566.4_Silent_p.G11G	p.G11G			WXS	Illumina GAIIx	Phase_I	Q9UG56	PISD_HUMAN			1	256	-			11					B1AKM7|O43207|O95535|Q6IC28|Q96GQ2|Q9UGA9	Silent	SNP	ENST00000439502.2	37	c.33A>G		.	.	.	.	.	.	.	.	.	.	t	7.956	0.745949	0.15710	.	.	ENSG00000241878	ENST00000435900	.	.	.	4.21	-3.63	0.04529	.	.	.	.	.	T	0.25975	0.0633	.	.	.	0.19575	N	0.999966	.	.	.	.	.	.	T	0.31971	-0.9924	4	.	.	.	-9.6829	5.9136	0.19041	0.0:0.2507:0.4548:0.2945	.	.	.	.	G	2	.	.	D	-	2	0	PISD	30388162	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.517000	0.06275	-0.508000	0.06540	-0.247000	0.11927	GAT		0.652	PISD-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000075106.4			12	55	0	0	0	1	0	12	55				
PRELP	5549	broad.mit.edu	37	1	203452939	203452939	+	Silent	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:203452939C>T	ENST00000343110.2	+	2	754	c.627C>T	c.(625-627)gaC>gaT	p.D209D		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	209					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.D209D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			GGCTGAGCGACGGCGTCTTCA	0.597																																						ENST00000343110.2																			1	Substitution - coding silent(1)	p.D209D(1)	kidney(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(625-627)gaC>gaT		proline/arginine-rich end leucine-rich repeat protein							117.0	118.0	118.0					1																	203452939		2203	4300	6503	SO:0001819	synonymous_variant	5549				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr1:203452939C>T	BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	9357	protein-coding gene	gene with protein product	"""prolargin proteoglycan"""	601914	"""proline arginine-rich end leucine-rich repeat protein"""				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.627C>T	1.37:g.203452939C>T			Somatic					p.D209D	NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	WXS	Illumina GAIIx	Phase_I	P51888	PRELP_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		2	754	+			209					Q6FG38	Silent	SNP	ENST00000343110.2	37	c.627C>T	CCDS1438.1																																																																																				0.597	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725		38	230	0	0	0	1	0	38	230				
ZFYVE28	57732	broad.mit.edu	37	4	2355779	2355779	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr4:2355779C>A	ENST00000290974.2	-	2	400	c.61G>T	c.(61-63)Gcc>Tcc	p.A21S	ZFYVE28_ENST00000511071.1_Missense_Mutation_p.A21S|ZFYVE28_ENST00000515169.1_5'UTR|ZFYVE28_ENST00000515312.1_5'UTR|ZFYVE28_ENST00000503000.1_Missense_Mutation_p.A21S|ZFYVE28_ENST00000509171.1_Intron	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	21					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						TAGAACCGGGCAAGCAGCTGC	0.672																																						ENST00000290974.2																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						c.(61-63)Gcc>Tcc		zinc finger, FYVE domain containing 28							17.0	16.0	16.0					4																	2355779		2197	4297	6494	SO:0001583	missense	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2355779C>A	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.61G>T	4.37:g.2355779C>A	ENSP00000290974:p.Ala21Ser		Somatic				ZFYVE28_ENST00000515312.1_5'UTR|ZFYVE28_ENST00000515169.1_5'UTR|ZFYVE28_ENST00000509171.1_Intron|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.A21S|ZFYVE28_ENST00000503000.1_Missense_Mutation_p.A21S	p.A21S	NM_020972.2	NP_066023.2	WXS	Illumina GAIIx	Phase_I	Q9HCC9	LST2_HUMAN			2	400	-			21					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	ENST00000290974.2	37	c.61G>T	CCDS33942.1	.	.	.	.	.	.	.	.	.	.	c	34	5.318567	0.95682	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000503000	T;T;T	0.32023	1.47;1.47;1.47	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.56262	0.1973	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.59032	-0.7530	10	0.56958	D	0.05	.	17.4291	0.87534	0.0:1.0:0.0:0.0	.	21;21	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	S	21	ENSP00000290974:A21S;ENSP00000425706:A21S;ENSP00000423694:A21S	ENSP00000290974:A21S	A	-	1	0	ZFYVE28	2325577	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.292000	0.65673	2.346000	0.79739	0.645000	0.84053	GCC		0.672	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		3	10	1	0	0.115264	1	0.117845	3	10				
BMPR2	659	broad.mit.edu	37	2	203421005	203421005	+	Nonsense_Mutation	SNP	C	C	T	rs137852748		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:203421005C>T	ENST00000374580.4	+	12	3156	c.2617C>T	c.(2617-2619)Cga>Tga	p.R873*	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	873					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.R873*(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TTTACTGAGACGAGAGCAACA	0.478																																						ENST00000374580.4																			1	Substitution - Nonsense(1)	p.R873*(1)	kidney(1)	autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42	GRCh37	CM002242	BMPR2	M	rs137852748	c.(2617-2619)Cga>Tga		bone morphogenetic protein receptor, type II (serine/threonine kinase)							131.0	126.0	128.0					2																	203421005		2203	4300	6503	SO:0001587	stop_gained	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203421005C>T	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.2617C>T	2.37:g.203421005C>T	ENSP00000363708:p.Arg873*		Somatic				BMPR2_ENST00000374574.2_Intron	p.R873*	NM_001204.6	NP_001195.2	WXS	Illumina GAIIx	Phase_I	Q13873	BMPR2_HUMAN			12	3156	+			873					Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Nonsense_Mutation	SNP	ENST00000374580.4	37	c.2617C>T	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	C	44	10.588075	0.99433	.	.	ENSG00000204217	ENST00000374580	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.581	0.76439	0.1377:0.8623:0.0:0.0	.	.	.	.	X	873	.	ENSP00000363708:R873X	R	+	1	2	BMPR2	203129250	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.268000	0.58883	2.941000	0.99782	0.655000	0.94253	CGA		0.478	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		44	219	0	0	0	1	0	44	219				
TPTE2P2	644623	broad.mit.edu	37	13	52864001	52864001	+	RNA	SNP	A	A	G	rs199631015		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr13:52864001A>G	ENST00000451298.1	-	0	168																											GAAAAAATAAAGCAATAGCTA	0.313																																						ENST00000451298.1																			0																																																			644623							g.chr13:52864001A>G																													13.37:g.52864001A>G			Somatic				RP11-64P12.8_ENST00000606031.1_RNA				WXS	Illumina GAIIx	Phase_I					0	168	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.313	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			3	52	0	0	0	1	0	3	52				
BTN1A1	696	broad.mit.edu	37	6	26509395	26509395	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:26509395C>T	ENST00000244513.6	+	7	1640	c.1574C>T	c.(1573-1575)gCa>gTa	p.A525V		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	525						extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.A525V(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AGCCAAGGGGCACCTTAAGGA	0.522																																						ENST00000244513.6																			1	Substitution - Missense(1)	p.A525V(1)	kidney(1)	endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						c.(1573-1575)gCa>gTa		butyrophilin, subfamily 1, member A1							78.0	83.0	81.0					6																	26509395		2200	4294	6494	SO:0001583	missense	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26509395C>T	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.1574C>T	6.37:g.26509395C>T	ENSP00000244513:p.Ala525Val		Somatic					p.A525V	NM_001732.2	NP_001723.2	WXS	Illumina GAIIx	Phase_I	Q13410	BT1A1_HUMAN			7	1640	+			525					Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	ENST00000244513.6	37	c.1574C>T	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	C	7.304	0.613652	0.14066	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.35789	1.29	5.41	3.61	0.41365	.	0.509492	0.18356	N	0.143728	T	0.07954	0.0199	N	0.14661	0.345	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.27905	-1.0060	10	0.33940	T	0.23	.	8.8719	0.35320	0.0:0.8137:0.0:0.1863	.	525	Q13410	BT1A1_HUMAN	V	525;493	ENSP00000244513:A525V	ENSP00000244513:A525V	A	+	2	0	BTN1A1	26617374	0.000000	0.05858	0.035000	0.18076	0.307000	0.27823	-0.100000	0.10990	0.807000	0.34208	0.655000	0.94253	GCA		0.522	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732		46	143	0	0	0	1	0	46	143				
OR10G3	26533	broad.mit.edu	37	14	22038847	22038847	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr14:22038847G>A	ENST00000303532.1	-	1	28	c.29C>T	c.(28-30)aCt>aTt	p.T10I		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		GATAAACGCAGTCAACAGTGT	0.423																																						ENST00000303532.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15						c.(28-30)aCt>aTt		olfactory receptor, family 10, subfamily G, member 3							62.0	62.0	62.0					14																	22038847		2202	4300	6502	SO:0001583	missense	26533				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22038847G>A		CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"""GPCR / Class A : Olfactory receptors"""	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.29C>T	14.37:g.22038847G>A	ENSP00000302437:p.Thr10Ile		Somatic					p.T10I	NM_001005465.1	NP_001005465.1	WXS	Illumina GAIIx	Phase_I	Q8NGC4	O10G3_HUMAN		GBM - Glioblastoma multiforme(265;0.0139)	1	28	-	all_cancers(95;0.000987)		10					Q6IET7|Q96R77	Missense_Mutation	SNP	ENST00000303532.1	37	c.29C>T	CCDS32046.1	.	.	.	.	.	.	.	.	.	.	G	8.300	0.819668	0.16607	.	.	ENSG00000169208	ENST00000303532	T	0.02158	4.42	4.5	4.5	0.54988	.	0.000000	0.48286	D	0.000197	T	0.04770	0.0129	M	0.73430	2.235	0.27580	N	0.949629	P	0.41710	0.76	B	0.41088	0.347	T	0.10706	-1.0618	10	0.87932	D	0	-9.5061	10.3662	0.44026	0.0:0.0:0.804:0.196	.	10	Q8NGC4	O10G3_HUMAN	I	10	ENSP00000302437:T10I	ENSP00000302437:T10I	T	-	2	0	OR10G3	21108687	0.111000	0.22076	0.983000	0.44433	0.188000	0.23474	2.286000	0.43496	2.212000	0.71576	0.650000	0.86243	ACT		0.423	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401521.1			3	96	0	0	0	1	0	3	96				
ASH1L	55870	broad.mit.edu	37	1	155491017	155491017	+	Silent	SNP	T	T	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:155491017T>C	ENST00000368346.3	-	2	933	c.294A>G	c.(292-294)aaA>aaG	p.K98K	ASH1L_ENST00000392403.3_Silent_p.K98K|ASH1L_ENST00000548830.1_Silent_p.K98K			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	98					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.K98K(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCTTTGGAGGTTTTTTAGTTC	0.373																																						ENST00000368346.3																			1	Substitution - coding silent(1)	p.K98K(1)	kidney(1)	autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(292-294)aaA>aaG		ash1 (absent, small, or homeotic)-like (Drosophila)							166.0	170.0	168.0					1																	155491017		2202	4300	6502	SO:0001819	synonymous_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155491017T>C	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.294A>G	1.37:g.155491017T>C			Somatic				ASH1L_ENST00000392403.3_Silent_p.K98K|ASH1L_ENST00000548830.1_Silent_p.K98K	p.K98K			WXS	Illumina GAIIx	Phase_I	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		2	933	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		98					Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	37	c.294A>G																																																																																					0.373	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		200	229	0	0	0	1	0	200	229				
KIF16B	55614	broad.mit.edu	37	20	16509021	16509021	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr20:16509021A>C	ENST00000354981.2	-	2	269	c.112T>G	c.(112-114)Tta>Gta	p.L38V	KIF16B_ENST00000355755.3_Missense_Mutation_p.L38V|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Missense_Mutation_p.L38V	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	38	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)	p.L38V(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTTGCCTTTAAGTTTGTGATT	0.408																																						ENST00000354981.2																			2	Substitution - Missense(2)	p.L38V(2)	kidney(2)	NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(112-114)Tta>Gta		kinesin family member 16B							228.0	186.0	200.0					20																	16509021		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16509021A>C	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.112T>G	20.37:g.16509021A>C	ENSP00000347076:p.Leu38Val		Somatic				KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Missense_Mutation_p.L38V|KIF16B_ENST00000355755.3_Missense_Mutation_p.L38V	p.L38V	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	WXS	Illumina GAIIx	Phase_I	Q96L93	KI16B_HUMAN			2	269	-			38			Kinesin-motor.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.112T>G	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	A	8.963	0.971156	0.18659	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.74737	-0.87;-0.87;-0.87	5.44	3.15	0.36227	Kinesin, motor domain (4);	0.285863	0.31347	N	0.007816	T	0.37128	0.0992	N	0.01277	-0.915	0.80722	D	1	B;B;B;B	0.17667	0.005;0.023;0.005;0.007	B;B;B;B	0.16289	0.006;0.015;0.009;0.015	T	0.32771	-0.9894	10	0.05525	T	0.97	.	5.8062	0.18442	0.7446:0.1685:0.0869:0.0	.	38;38;38;38	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	V	38	ENSP00000347076:L38V;ENSP00000347995:L38V;ENSP00000384164:L38V	ENSP00000347076:L38V	L	-	1	2	KIF16B	16457021	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.505000	0.35736	0.428000	0.26173	0.455000	0.32223	TTA		0.408	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		37	92	0	0	0	1	0	37	92				
XYLT1	64131	broad.mit.edu	37	16	17294420	17294420	+	Silent	SNP	G	G	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr16:17294420G>A	ENST00000261381.6	-	4	1089	c.1005C>T	c.(1003-1005)caC>caT	p.H335H		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	335					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.H335Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGGCACGGCCGTGGACCACCA	0.567																																						ENST00000261381.6																			1	Substitution - Missense(1)	p.H335Q(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1003-1005)caC>caT		xylosyltransferase I							230.0	194.0	206.0					16																	17294420		2197	4300	6497	SO:0001819	synonymous_variant	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17294420G>A	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1005C>T	16.37:g.17294420G>A			Somatic					p.H335H	NM_022166.3	NP_071449.1	WXS	Illumina GAIIx	Phase_I	Q86Y38	XYLT1_HUMAN			4	1089	-			335					Q9H1B6	Silent	SNP	ENST00000261381.6	37	c.1005C>T	CCDS10569.1																																																																																				0.567	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		4	463	0	0	0	1	0	4	463				
FAT3	120114	broad.mit.edu	37	11	92086069	92086069	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:92086069C>G	ENST00000298047.6	+	1	808	c.791C>G	c.(790-792)cCa>cGa	p.P264R	FAT3_ENST00000541502.1_Missense_Mutation_p.P264R|FAT3_ENST00000525166.1_Missense_Mutation_p.P114R|FAT3_ENST00000409404.2_Missense_Mutation_p.P264R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	264	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.|Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAACATGCCCCAACAATCCAT	0.443										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(790-792)cCa>cGa		FAT atypical cadherin 3							176.0	169.0	171.0					11																	92086069		2026	4186	6212	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92086069C>G	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.791C>G	11.37:g.92086069C>G	ENSP00000298047:p.Pro264Arg	TCGA Ovarian(4;0.039)	Somatic				FAT3_ENST00000409404.2_Missense_Mutation_p.P264R|FAT3_ENST00000541502.1_Missense_Mutation_p.P264R|FAT3_ENST00000525166.1_Missense_Mutation_p.P114R	p.P264R			WXS	Illumina GAIIx	Phase_I	Q8TDW7	FAT3_HUMAN			1	808	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	264			Cadherin 2.|Cadherin 3.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.791C>G		.	.	.	.	.	.	.	.	.	.	C	16.01	3.000416	0.54147	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	5.09	5.09	0.68999	.	.	.	.	.	D	0.97284	0.9112	H	0.99379	4.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99264	1.0891	9	0.87932	D	0	.	17.8503	0.88744	0.0:1.0:0.0:0.0	.	264	Q8TDW7-3	.	R	264;264;264;114	ENSP00000298047:P264R;ENSP00000387040:P264R;ENSP00000443786:P264R;ENSP00000432586:P114R	ENSP00000298047:P264R	P	+	2	0	FAT3	91725717	1.000000	0.71417	0.257000	0.24404	0.584000	0.36387	7.752000	0.85141	2.509000	0.84616	0.557000	0.71058	CCA		0.443	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		5	285	0	0	0	1	0	5	285				
OR4M2	390538	broad.mit.edu	37	15	22368771	22368771	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr15:22368771C>G	ENST00000332663.2	+	1	294	c.196C>G	c.(196-198)Ctg>Gtg	p.L66V	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	66						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(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GTTGGCTAATCTGGCCTTCCT	0.408																																						ENST00000332663.2																			0				NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63						c.(196-198)Ctg>Gtg		olfactory receptor, family 4, subfamily M, member 2							484.0	417.0	440.0					15																	22368771		2203	4300	6503	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22368771C>G	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.196C>G	15.37:g.22368771C>G	ENSP00000329467:p.Leu66Val		Somatic				RP11-69H14.6_ENST00000558896.1_RNA	p.L66V	NM_001004719.2	NP_001004719.2	WXS	Illumina GAIIx	Phase_I	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	294	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	66					B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.196C>G	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	13.48	2.248853	0.39797	.	.	ENSG00000182974	ENST00000332663	T	0.00587	6.38	2.5	0.404	0.16355	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36703	N	0.002460	T	0.03915	0.0110	H	0.97265	3.97	0.26529	N	0.974281	D	0.89917	1.0	D	0.87578	0.998	T	0.12243	-1.0555	10	0.87932	D	0	-6.2105	6.7186	0.23318	0.0:0.7314:0.0:0.2686	.	66	Q8NGB6	OR4M2_HUMAN	V	66	ENSP00000329467:L66V	ENSP00000329467:L66V	L	+	1	2	OR4M2	19870135	0.000000	0.05858	0.988000	0.46212	0.979000	0.70002	-0.861000	0.04268	-0.019000	0.14055	0.448000	0.29417	CTG		0.408	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			5	710	0	0	0	1	0	5	710				
PEX5	5830	broad.mit.edu	37	12	7360264	7360264	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:7360264T>G	ENST00000455147.2	+	12	1556	c.976T>G	c.(976-978)Ttt>Gtt	p.F326V	PEX5_ENST00000412720.2_Missense_Mutation_p.F347V|PEX5_ENST00000434354.2_Missense_Mutation_p.F341V|PEX5_ENST00000266563.5_Missense_Mutation_p.F289V|PEX5_ENST00000266564.3_Missense_Mutation_p.F318V|PEX5_ENST00000420616.2_Missense_Mutation_p.F326V	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	326					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)	p.F318V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GGGGTACCAGTTTGAGGAGGA	0.557																																						ENST00000266563.5																			1	Substitution - Missense(1)	p.F318V(1)	kidney(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						c.(865-867)Ttt>Gtt		peroxisomal biogenesis factor 5							83.0	84.0	84.0					12																	7360264		2203	4300	6503	SO:0001583	missense	5830				protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding	g.chr12:7360264T>G	U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"""Tetratricopeptide (TTC) repeat domain containing"""	9719	protein-coding gene	gene with protein product		600414	"""peroxisome receptor 1"""	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.976T>G	12.37:g.7360264T>G	ENSP00000400647:p.Phe326Val		Somatic				PEX5_ENST00000412720.2_Missense_Mutation_p.F347V|PEX5_ENST00000266564.3_Missense_Mutation_p.F318V|PEX5_ENST00000434354.2_Missense_Mutation_p.F341V|PEX5_ENST00000420616.2_Missense_Mutation_p.F326V|PEX5_ENST00000455147.2_Missense_Mutation_p.F326V	p.F289V	NM_001131024.1	NP_001124496.1	WXS	Illumina GAIIx	Phase_I	P50542	PEX5_HUMAN			10	1048	+			326					A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Missense_Mutation	SNP	ENST00000455147.2	37	c.865T>G	CCDS44823.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.556555	0.86231	.	.	ENSG00000139197	ENST00000455147;ENST00000266563;ENST00000434354;ENST00000420616;ENST00000412720;ENST00000396637;ENST00000266564	T;T;T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41	4.95	4.95	0.65309	Tetratricopeptide-like helical (1);	0.100153	0.64402	D	0.000001	D	0.87617	0.6222	L	0.61036	1.89	0.80722	D	1	B;D;D;D;D	0.57899	0.332;0.981;0.962;0.978;0.978	B;D;D;D;D	0.71414	0.256;0.94;0.94;0.973;0.973	D	0.89008	0.3426	10	0.87932	D	0	.	14.7772	0.69738	0.0:0.0:0.0:1.0	.	347;341;326;318;289	B4E0T2;B4DZ45;P50542;P50542-3;P50542-2	.;.;PEX5_HUMAN;.;.	V	326;289;341;326;347;296;318	ENSP00000400647:F326V;ENSP00000266563:F289V;ENSP00000407401:F341V;ENSP00000410159:F326V;ENSP00000391601:F347V;ENSP00000379877:F296V;ENSP00000266564:F318V	ENSP00000266563:F289V	F	+	1	0	PEX5	7251531	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.776000	0.85560	2.079000	0.62486	0.402000	0.26972	TTT		0.557	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319		64	125	0	0	0	1	0	64	125				
LRRC37B	114659	broad.mit.edu	37	17	30357718	30357718	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:30357718T>G	ENST00000341671.7	+	4	1872	c.1867T>G	c.(1867-1869)Ttt>Gtt	p.F623V	LRRC37B_ENST00000543378.2_Missense_Mutation_p.F541V|LRRC37B_ENST00000327564.7_Missense_Mutation_p.F650V|LRRC37B_ENST00000584368.1_Intron|LRRC37B_ENST00000394713.3_Intron	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	623						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.F623V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AAGACAAACATTTGAATCACT	0.254																																						ENST00000327564.7																			1	Substitution - Missense(1)	p.F623V(1)	kidney(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(1948-1950)Ttt>Gtt		leucine rich repeat containing 37B							23.0	17.0	19.0					17																	30357718		2165	4118	6283	SO:0001583	missense	114659					integral to membrane		g.chr17:30357718T>G	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.1867T>G	17.37:g.30357718T>G	ENSP00000340519:p.Phe623Val		Somatic				LRRC37B_ENST00000341671.7_Missense_Mutation_p.F623V|LRRC37B_ENST00000543378.2_Missense_Mutation_p.F541V|LRRC37B_ENST00000394713.3_Intron|LRRC37B_ENST00000584368.1_Intron	p.F650V			WXS	Illumina GAIIx	Phase_I	Q96QE4	LR37B_HUMAN			4	2009	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	623					Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	37	c.1948T>G	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	9.757	1.168952	0.21621	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000341671	T;T;T	0.70164	-0.46;-0.46;-0.46	2.14	2.14	0.27477	.	.	.	.	.	T	0.80924	0.4717	M	0.89601	3.045	0.80722	D	1	D	0.69078	0.997	D	0.74023	0.982	T	0.80843	-0.1201	9	0.87932	D	0	.	6.3016	0.21115	0.0:0.0:0.0:1.0	.	623	Q96QE4	LR37B_HUMAN	V	541;650;623	ENSP00000443345:F541V;ENSP00000332536:F650V;ENSP00000340519:F623V	ENSP00000332536:F650V	F	+	1	0	LRRC37B	27381831	1.000000	0.71417	0.984000	0.44739	0.030000	0.12068	3.330000	0.52068	1.234000	0.43709	0.368000	0.22195	TTT		0.254	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		4	13	0	0	0	1	0	4	13				
KSR2	283455	broad.mit.edu	37	12	117962899	117962899	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:117962899C>A	ENST00000339824.5	-	14	2704	c.1977G>T	c.(1975-1977)tgG>tgT	p.W659C	KSR2_ENST00000425217.1_Missense_Mutation_p.W630C|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Missense_Mutation_p.W356C			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	659					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGGGATGTCCCACTCCTGAA	0.617																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1888-1890)tgG>tgT		kinase suppressor of ras 2							70.0	75.0	73.0					12																	117962899		2110	4227	6337	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117962899C>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1977G>T	12.37:g.117962899C>A	ENSP00000339952:p.Trp659Cys		Somatic				KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.W659C|KSR2_ENST00000302438.5_Missense_Mutation_p.W356C	p.W630C	NM_173598.4	NP_775869.3	WXS	Illumina GAIIx	Phase_I	Q6VAB6	KSR2_HUMAN			14	1944	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		659					A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.1890G>T		.	.	.	.	.	.	.	.	.	.	C	23.7	4.446022	0.84101	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	D;D;D	0.89270	-2.49;-2.49;-2.49	4.98	4.98	0.66077	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.94301	0.8169	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94790	0.7961	10	0.87932	D	0	.	18.4381	0.90653	0.0:1.0:0.0:0.0	.	659	Q6VAB6	KSR2_HUMAN	C	630;659;356;331	ENSP00000389715:W630C;ENSP00000339952:W659C;ENSP00000305466:W356C	ENSP00000305466:W356C	W	-	3	0	KSR2	116447282	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.584000	0.87258	0.650000	0.86243	TGG		0.617	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		4	122	1	0	0.014758	1	0.0154339	4	122				
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|NDUFS1_ENST00000423725.1_5'Flank|EEF1B2_ENST00000392221.1_Silent_p.P45P|SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|EEF1B2_ENST00000236957.5_Silent_p.P45P|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448																																						ENST00000392222.2																			5	Substitution - coding silent(5)	p.P45P(5)	kidney(2)|endometrium(2)|lung(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(133-135)ccG>ccA		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025366		2203	4300	6503	SO:0001819	synonymous_variant	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025366G>A	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.135G>A	2.37:g.207025366G>A			Somatic				EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	p.P45P	NM_001959.3	NP_001950.1	WXS	Illumina GAIIx	Phase_I	P24534	EF1B_HUMAN			2	510	+			45			GST C-terminal.		A8K795|Q6IBH9	Silent	SNP	ENST00000392222.2	37	c.135G>A	CCDS2367.1																																																																																				0.448	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		4	63	0	0	0	1	0	4	63				
CYP8B1	1582	broad.mit.edu	37	3	42915969	42915969	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr3:42915969A>T	ENST00000316161.4	-	1	1664	c.1340T>A	c.(1339-1341)cTc>cAc	p.L447H	RP11-141M3.5_ENST00000471537.1_RNA|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.L447H	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	447					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)	p.L447H(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CACCTCACTGAGTGCAAAGAA	0.542																																						ENST00000316161.4																			1	Substitution - Missense(1)	p.L447H(1)	kidney(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23						c.(1339-1341)cTc>cAc		cytochrome P450, family 8, subfamily B, polypeptide 1							107.0	96.0	100.0					3																	42915969		2203	4300	6503	SO:0001583	missense	1582				bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	g.chr3:42915969A>T	AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"""Cytochrome P450s"""	2653	protein-coding gene	gene with protein product		602172	"""cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"""			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.1340T>A	3.37:g.42915969A>T	ENSP00000318867:p.Leu447His		Somatic				ACKR2_ENST00000471537.1_Intron|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.L447H	p.L447H	NM_004391.2	NP_004382.2	WXS	Illumina GAIIx	Phase_I	Q9UNU6	CP8B1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)	1	1664	-			447					B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	ENST00000316161.4	37	c.1340T>A	CCDS2707.1	.	.	.	.	.	.	.	.	.	.	A	16.52	3.145876	0.57044	.	.	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.68765	-0.35;-0.35	5.39	3.04	0.35103	.	0.524360	0.18292	N	0.145696	T	0.77123	0.4084	M	0.77406	2.37	0.30650	N	0.755556	D;D	0.67145	0.996;0.992	D;P	0.64506	0.926;0.895	T	0.74589	-0.3615	10	0.87932	D	0	-9.4179	7.1046	0.25356	0.7479:0.0:0.2521:0.0	.	447;447	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	H	447	ENSP00000404499:L447H;ENSP00000318867:L447H	ENSP00000318867:L447H	L	-	2	0	CYP8B1	42890973	1.000000	0.71417	0.775000	0.31657	0.782000	0.44232	3.207000	0.51106	0.892000	0.36259	0.379000	0.24179	CTC		0.542	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	NM_004391		55	68	0	0	0	1	0	55	68				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	284802							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser		Somatic				FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S	p.L82S			WXS	Illumina GAIIx	Phase_I					6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	283	0	0	0	1	0	4	283				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																653390							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		4	110	0	0	0	1	0	4	110				
IRS1	3667	broad.mit.edu	37	2	227662870	227662870	+	Silent	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:227662870C>T	ENST00000305123.5	-	1	1605	c.585G>A	c.(583-585)gtG>gtA	p.V195V	RP11-395N3.2_ENST00000607970.1_lincRNA|IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	195	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.V195V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		AGTTCAGCTTCACGAAGCTGA	0.567											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305123.4																			1	Substitution - coding silent(1)	p.V195V(1)	kidney(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(583-585)gtG>gtA		insulin receptor substrate 1							58.0	56.0	57.0					2																	227662870		2203	4300	6503	SO:0001819	synonymous_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227662870C>T		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.585G>A	2.37:g.227662870C>T			Somatic	OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.V195V	NM_005544.2	NP_005535.1	WXS	Illumina GAIIx	Phase_I	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	1605	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	195			IRS-type PTB.			Silent	SNP	ENST00000305123.5	37	c.585G>A	CCDS2463.1																																																																																				0.567	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		16	23	0	0	0	1	0	16	23				
SPG11	80208	broad.mit.edu	37	15	44858475	44858475	+	Silent	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr15:44858475C>T	ENST00000261866.7	-	37	6799	c.6783G>A	c.(6781-6783)ctG>ctA	p.L2261L	SPG11_ENST00000535302.2_Silent_p.L2148L|SPG11_ENST00000427534.2_Intron	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2261					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.L2261L(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GCAGTTGTTTCAGCTGGTGCC	0.502																																						ENST00000261866.7																			1	Substitution - coding silent(1)	p.L2261L(1)	kidney(1)	autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(6781-6783)ctG>ctA		spastic paraplegia 11 (autosomal recessive)							84.0	74.0	77.0					15																	44858475		2198	4298	6496	SO:0001819	synonymous_variant	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44858475C>T		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.6783G>A	15.37:g.44858475C>T			Somatic				SPG11_ENST00000427534.2_Intron|SPG11_ENST00000535302.2_Silent_p.L2148L	p.L2261L	NM_025137.3	NP_079413.3	WXS	Illumina GAIIx	Phase_I	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	37	6799	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	2261					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	ENST00000261866.7	37	c.6783G>A	CCDS10112.1																																																																																				0.502	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			17	50	0	0	0	1	0	17	50				
GPM6A	2823	broad.mit.edu	37	4	176622807	176622807	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr4:176622807G>A	ENST00000280187.7	-	3	194	c.149C>T	c.(148-150)gCg>gTg	p.A50V	GPM6A_ENST00000393658.2_Missense_Mutation_p.A50V|GPM6A_ENST00000506894.1_Missense_Mutation_p.A39V|GPM6A_ENST00000515090.1_Missense_Mutation_p.A43V	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	50					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)	p.A50V(3)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		TCCAGAAAGCGCTTCATGACC	0.488																																						ENST00000280187.7																			3	Substitution - Missense(3)	p.A50V(3)	kidney(2)|prostate(1)	NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(148-150)gCg>gTg		glycoprotein M6A							154.0	144.0	148.0					4																	176622807		2203	4300	6503	SO:0001583	missense	2823					cell surface|integral to membrane		g.chr4:176622807G>A		CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.149C>T	4.37:g.176622807G>A	ENSP00000280187:p.Ala50Val		Somatic				GPM6A_ENST00000515090.1_Missense_Mutation_p.A43V|GPM6A_ENST00000393658.2_Missense_Mutation_p.A50V|GPM6A_ENST00000506894.1_Missense_Mutation_p.A39V	p.A50V	NM_005277.4	NP_005268.1	WXS	Illumina GAIIx	Phase_I	P51674	GPM6A_HUMAN		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)	3	194	-		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	50					B7Z642|E9PHI5|Q92602	Missense_Mutation	SNP	ENST00000280187.7	37	c.149C>T	CCDS3824.1	.	.	.	.	.	.	.	.	.	.	G	36	5.598683	0.96614	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000506894;ENST00000515090;ENST00000503397;ENST00000513365;ENST00000505304	D;D;D;D;D;D;D	0.99548	-6.14;-6.14;-6.14;-6.14;-6.14;-6.14;-6.14	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.99635	0.9866	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	D	0.98505	1.0616	10	0.87932	D	0	-0.21	20.5211	0.99222	0.0:0.0:1.0:0.0	.	43;39;50	B7Z642;E9PHI5;P51674	.;.;GPM6A_HUMAN	V	50;50;39;43;42;50;43	ENSP00000280187:A50V;ENSP00000377268:A50V;ENSP00000421578:A39V;ENSP00000423984:A43V;ENSP00000422959:A42V;ENSP00000423122:A50V;ENSP00000425463:A43V	ENSP00000280187:A50V	A	-	2	0	GPM6A	176859801	1.000000	0.71417	0.970000	0.41538	0.897000	0.52465	9.476000	0.97823	2.861000	0.98227	0.650000	0.86243	GCG		0.488	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1			68	267	0	0	0	1	0	68	267				
RBM33	155435	broad.mit.edu	37	7	155473515	155473515	+	Silent	SNP	A	A	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr7:155473515A>T	ENST00000401878.3	+	5	678	c.480A>T	c.(478-480)atA>atT	p.I160I	RBM33_ENST00000392759.3_Silent_p.I160I|RBM33_ENST00000287912.3_Silent_p.I160I	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	160	Glu-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.I160I(3)		breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AAGACCAAATAGAATATGTGG	0.403																																						ENST00000401878.3																			3	Substitution - coding silent(3)	p.I160I(3)	kidney(3)	breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(478-480)atA>atT		RNA binding motif protein 33							90.0	90.0	90.0					7																	155473515		1980	4173	6153	SO:0001819	synonymous_variant	155435						nucleotide binding|RNA binding	g.chr7:155473515A>T	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.480A>T	7.37:g.155473515A>T			Somatic				RBM33_ENST00000392759.3_Silent_p.I160I|RBM33_ENST00000287912.3_Silent_p.I160I	p.I160I	NM_053043.2	NP_444271.2	WXS	Illumina GAIIx	Phase_I	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	5	678	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	160			Glu-rich.		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Silent	SNP	ENST00000401878.3	37	c.480A>T	CCDS5941.2																																																																																				0.403	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		24	96	0	0	0	1	0	24	96				
ZBTB49	166793	broad.mit.edu	37	4	4322782	4322782	+	Silent	SNP	G	G	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr4:4322782G>A	ENST00000337872.4	+	8	2158	c.2037G>A	c.(2035-2037)aaG>aaA	p.K679K	ZBTB49_ENST00000355834.3_Silent_p.K557K|RP11-265O12.1_ENST00000509015.1_lincRNA|ZBTB49_ENST00000538529.1_Silent_p.K162K	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	679					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(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						AACTTGCCAAGCCCCAGATGC	0.567																																						ENST00000337872.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						c.(2035-2037)aaG>aaA		zinc finger and BTB domain containing 49							60.0	55.0	57.0					4																	4322782		2203	4300	6503	SO:0001819	synonymous_variant	166793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:4322782G>A	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.2037G>A	4.37:g.4322782G>A			Somatic				ZBTB49_ENST00000538529.1_Silent_p.K162K|ZBTB49_ENST00000355834.3_Silent_p.K557K	p.K679K	NM_145291.3	NP_660334.3	WXS	Illumina GAIIx	Phase_I	Q6ZSB9	ZBT49_HUMAN			8	2158	+			679					Q59FJ4|Q5EBN0|Q8TB80	Silent	SNP	ENST00000337872.4	37	c.2037G>A	CCDS3375.1																																																																																				0.567	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		3	73	0	0	0	1	0	3	73				
FLT1	2321	broad.mit.edu	37	13	29012465	29012465	+	Missense_Mutation	SNP	C	C	A	rs373801409		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr13:29012465C>A	ENST00000282397.4	-	4	657	c.406G>T	c.(406-408)Gta>Tta	p.V136L	FLT1_ENST00000541932.1_Missense_Mutation_p.V136L|FLT1_ENST00000539099.1_Missense_Mutation_p.V136L	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	136					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TACATCTCTACGAAAGGTCTA	0.398																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(406-408)Gta>Tta		fms-related tyrosine kinase 1	Sunitinib(DB01268)						100.0	85.0	90.0					13																	29012465		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:29012465C>A	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.406G>T	13.37:g.29012465C>A	ENSP00000282397:p.Val136Leu		Somatic				FLT1_ENST00000541932.1_Missense_Mutation_p.V136L|FLT1_ENST00000539099.1_Missense_Mutation_p.V136L	p.V136L	NM_002019.4	NP_002010.2	WXS	Illumina GAIIx	Phase_I	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	4	657	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	136					A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.406G>T	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667432	0.47677	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000450836;ENST00000539099	T;T;T	0.27402	1.67;1.67;1.67	6.03	-1.83	0.07833	Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor 1 (VEGFR1), N-terminal (1);Immunoglobulin-like fold (1);	0.337959	0.30695	N	0.009079	T	0.17238	0.0414	L	0.37897	1.145	0.80722	D	1	B;B;B;B	0.14438	0.002;0.002;0.002;0.01	B;B;B;B	0.17722	0.019;0.019;0.019;0.01	T	0.04870	-1.0921	10	0.33940	T	0.23	.	3.595	0.08002	0.1252:0.5201:0.0898:0.2648	.	136;136;136;136	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	L	136	ENSP00000282397:V136L;ENSP00000437631:V136L;ENSP00000442630:V136L	ENSP00000282397:V136L	V	-	1	0	FLT1	27910465	0.950000	0.32346	0.605000	0.28930	0.993000	0.82548	0.085000	0.14912	-0.458000	0.07023	0.655000	0.94253	GTA		0.398	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			3	92	1	0	0.115264	1	0.117845	3	92				
OR4Q3	441669	broad.mit.edu	37	14	20215690	20215690	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr14:20215690A>T	ENST00000331723.1	+	1	104	c.104A>T	c.(103-105)tAc>tTc	p.Y35F		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGTTTTTTTACATTGCTATT	0.378																																						ENST00000331723.1																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(103-105)tAc>tTc		olfactory receptor, family 4, subfamily Q, member 3							169.0	173.0	172.0					14																	20215690		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20215690A>T	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.104A>T	14.37:g.20215690A>T	ENSP00000330049:p.Tyr35Phe		Somatic					p.Y35F	NM_172194.1	NP_751944.1	WXS	Illumina GAIIx	Phase_I	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	104	+	all_cancers(95;0.00108)		35					Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.104A>T	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	12.51	1.958973	0.34565	.	.	ENSG00000182652	ENST00000331723	T	0.04406	3.63	4.32	3.09	0.35607	.	0.000000	0.36591	U	0.002508	T	0.10637	0.0260	M	0.85542	2.76	0.27984	N	0.935927	P	0.46512	0.879	P	0.44518	0.452	T	0.06991	-1.0796	10	0.87932	D	0	.	8.4189	0.32687	0.8259:0.0:0.0:0.1741	.	35	Q8NH05	OR4Q3_HUMAN	F	35	ENSP00000330049:Y35F	ENSP00000330049:Y35F	Y	+	2	0	OR4Q3	19285530	0.740000	0.28207	0.136000	0.22124	0.867000	0.49689	1.606000	0.36826	1.814000	0.52955	0.416000	0.27883	TAC		0.378	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			6	548	0	0	0	1	0	6	548				
TAF10	6881	broad.mit.edu	37	11	6636691	6636691	+	5'Flank	SNP	G	G	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:6636691G>T	ENST00000299424.4	-	0	0				TPP1_ENST00000533371.1_Missense_Mutation_p.F173L|TPP1_ENST00000299427.6_Missense_Mutation_p.F416L|TAF10_ENST00000531760.1_5'Flank|TPP1_ENST00000534644.1_5'Flank	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa						chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|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)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|perinuclear region of cytoplasm (GO:0048471)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|RNA polymerase binding (GO:0070063)|transcription coactivator activity (GO:0003713)						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AAGGCCGTGGGAACACATTGC	0.517																																						ENST00000533371.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(517-519)ttC>ttA		tripeptidyl peptidase I							175.0	127.0	143.0					11																	6636691		2201	4296	6497	SO:0001631	upstream_gene_variant	1200				bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr11:6636691G>T	U13991, U25816	CCDS7769.1	11p15.5-p15.2	2006-11-14	2002-08-29	2001-12-07	ENSG00000166337	ENSG00000166337			11543	protein-coding gene	gene with protein product		600475	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, H, 30kD"""	TAF2H, TAF2A		7923369	Standard	NM_006284		Approved	TAFII30	uc001mej.2	Q12962	OTTHUMG00000133402		11.37:g.6636691G>T	Exception_encountered		Somatic				TPP1_ENST00000299427.6_Missense_Mutation_p.F416L	p.F173L			WXS	Illumina GAIIx	Phase_I	O14773	TPP1_HUMAN		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	9	1317	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	416					O00703|Q13175|Q6FH13	Missense_Mutation	SNP	ENST00000299424.4	37	c.519C>A	CCDS7769.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326710	0.60743	.	.	ENSG00000166340	ENST00000299427;ENST00000533371;ENST00000453338	D;D	0.97138	-4.26;-4.26	5.08	0.547	0.17202	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.051391	0.85682	D	0.000000	D	0.97564	0.9202	M	0.83118	2.625	0.80722	D	1	D	0.64830	0.994	D	0.64687	0.928	D	0.95773	0.8810	10	0.56958	D	0.05	-25.9696	7.2736	0.26271	0.454:0.0:0.546:0.0	.	416	O14773	TPP1_HUMAN	L	416;173;199	ENSP00000299427:F416L;ENSP00000437066:F173L	ENSP00000299427:F416L	F	-	3	2	TPP1	6593267	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	0.789000	0.26886	0.070000	0.16634	-0.367000	0.07326	TTC		0.517	TAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257259.2	NM_006284		4	71	1	0	2.56e-06	1	2.78349e-06	4	71				
PBRM1	55193	broad.mit.edu	37	3	52651419	52651419	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr3:52651419A>T	ENST00000296302.7	-	14	1678	c.1677T>A	c.(1675-1677)taT>taA	p.Y559*	PBRM1_ENST00000409057.1_Nonsense_Mutation_p.Y559*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.Y574*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.Y559*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.Y527*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.Y574*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.Y559*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.Y559*			Q86U86	PB1_HUMAN	polybromo 1	559	Bromo 4. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Y559*(2)|p.Y527*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGATGATTTTATAATAATCAG	0.378			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		3	Substitution - Nonsense(3)	p.Y559*(2)|p.Y527*(1)	kidney(3)	breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(1579-1581)taT>taA		polybromo 1							110.0	111.0	111.0					3																	52651419		2203	4300	6503	SO:0001587	stop_gained	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52651419A>T	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1677T>A	3.37:g.52651419A>T	ENSP00000296302:p.Tyr559*		Somatic				PBRM1_ENST00000410007.1_Nonsense_Mutation_p.Y559*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.Y574*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.Y559*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.Y574*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.Y559*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.Y559*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.Y559*	p.Y527*			WXS	Illumina GAIIx	Phase_I	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	13	1583	-			559					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37	c.1581T>A		.	.	.	.	.	.	.	.	.	.	A	37	6.568650	0.97671	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.84	3.16	0.36331	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.4785	9.6974	0.40165	0.7618:0.0:0.2382:0.0	.	.	.	.	X	527;559;559;559;559;559;574;574;559;518	.	ENSP00000296302:Y559X	Y	-	3	2	PBRM1	52626459	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.943000	0.40253	1.045000	0.40225	0.533000	0.62120	TAT		0.378	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		29	51	0	0	0	1	0	29	51				
RANBP2	5903	broad.mit.edu	37	2	109378555	109378555	+	Splice_Site	SNP	A	A	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:109378555A>T	ENST00000283195.6	+	19	2728		c.e19-1			NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTGTTTTTTTAGTTGCAACTA	0.333																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.e19-1		RAN binding protein 2							91.0	100.0	97.0					2																	109378555		931	2027	2958	SO:0001630	splice_region_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109378555A>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2603-1A>T	2.37:g.109378555A>T			Somatic						NM_006267.4	NP_006258.3	WXS	Illumina GAIIx	Phase_I	P49792	RBP2_HUMAN			19	2728	+								Q13074|Q15280|Q53TE2|Q59FH7	Splice_Site	SNP	ENST00000283195.6	37		CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.294558	0.81025	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3858	0.74699	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RANBP2	108744987	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.847000	0.75404	2.088000	0.63022	0.455000	0.32223	.		0.333	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	Intron	4	142	0	0	0	1	0	4	142				
TAPBPL	55080	broad.mit.edu	37	12	6571287	6571287	+	Missense_Mutation	SNP	G	G	A	rs141838188	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:6571287G>A	ENST00000266556.7	+	7	1544	c.1379G>A	c.(1378-1380)cGc>cAc	p.R460H	TAPBPL_ENST00000545700.1_3'UTR|VAMP1_ENST00000544432.1_5'Flank	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	460					negative regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)	p.R460H(1)		endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						CATGAAGACCGCACAGCGCGT	0.557													G|||	6	0.00119808	0.0	0.0043	5008	,	,		20280	0.003		0.0	False		,,,				2504	0.0					ENST00000266556.7																			1	Substitution - Missense(1)	p.R460H(1)	endometrium(1)	endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						c.(1378-1380)cGc>cAc		TAP binding protein-like		G	HIS/ARG	5,4401	9.9+/-24.2	0,5,2198	75.0	60.0	65.0		1379	-0.3	0.0	12	dbSNP_134	65	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TAPBPL	NM_018009.4	29	0,7,6496	AA,AG,GG		0.0233,0.1135,0.0538	probably-damaging	460/469	6571287	7,12999	2203	4300	6503	SO:0001583	missense	55080				antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane		g.chr12:6571287G>A	AK001005	CCDS8546.1	12p13.31	2013-01-11						"""Immunoglobulin superfamily / C1-set domain containing"""	30683	protein-coding gene	gene with protein product		607081				11920573	Standard	NM_018009		Approved	TAPBP-R, FLJ10143, TAPBPR	uc001qog.4	Q9BX59		ENST00000266556.7:c.1379G>A	12.37:g.6571287G>A	ENSP00000266556:p.Arg460His		Somatic				TAPBPL_ENST00000545700.1_3'UTR	p.R460H	NM_018009.4	NP_060479.3	WXS	Illumina GAIIx	Phase_I	Q9BX59	TPSNR_HUMAN			7	1544	+			460					Q9NWB8	Missense_Mutation	SNP	ENST00000266556.7	37	c.1379G>A	CCDS8546.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	2	0.0034965034965034965	0	0.0	G	12.21	1.870669	0.33069	0.001135	2.33E-4	ENSG00000139192	ENST00000266556	T	0.10192	2.9	5.03	-0.275	0.12906	.	4.331660	0.00714	N	0.000843	T	0.09379	0.0231	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37361	-0.9709	10	0.52906	T	0.07	0.0922	7.9672	0.30107	0.532:0.0:0.468:0.0	.	460	Q9BX59	TPSNR_HUMAN	H	460	ENSP00000266556:R460H	ENSP00000266556:R460H	R	+	2	0	TAPBPL	6441548	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.070000	0.11523	-0.322000	0.08615	-0.367000	0.07326	CGC		0.557	TAPBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399263.1	NM_018009		3	26	0	0	0	1	0	3	26				
OR2D2	120776	broad.mit.edu	37	11	6913440	6913440	+	Missense_Mutation	SNP	C	C	T	rs151328039	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:6913440C>T	ENST00000299459.2	-	1	390	c.292G>A	c.(292-294)Gca>Aca	p.A98T		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	98					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGTCGAGCTGCGCAAAGTGTG	0.483													C|||	13	0.00259585	0.0091	0.0014	5008	,	,		22896	0.0		0.0	False		,,,				2504	0.0					ENST00000299459.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18						c.(292-294)Gca>Aca		olfactory receptor, family 2, subfamily D, member 2			THR/ALA	32,4370	37.6+/-69.7	0,32,2169	118.0	96.0	104.0		292	0.1	0.0	11	dbSNP_134	104	0,8592		0,0,4296	yes	missense	OR2D2	NM_003700.1	58	0,32,6465	TT,TC,CC		0.0,0.7269,0.2463	probably-damaging	98/309	6913440	32,12962	2201	4296	6497	SO:0001583	missense	120776				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6913440C>T	AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"""GPCR / Class A : Olfactory receptors"""	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.292G>A	11.37:g.6913440C>T	ENSP00000299459:p.Ala98Thr		Somatic					p.A98T	NM_003700.1	NP_003691.1	WXS	Illumina GAIIx	Phase_I	Q9H210	OR2D2_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	390	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	98					B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Missense_Mutation	SNP	ENST00000299459.2	37	c.292G>A	CCDS31416.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	8.378	0.836799	0.16891	0.007269	0.0	ENSG00000166368	ENST00000299459	T	0.00397	7.57	5.23	0.0724	0.14386	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000160	T	0.00271	0.0008	L	0.43152	1.355	0.09310	N	1	D	0.71674	0.998	P	0.59357	0.856	T	0.55244	-0.8171	10	0.62326	D	0.03	-8.762	1.8707	0.03207	0.232:0.4399:0.1132:0.2149	.	98	Q9H210	OR2D2_HUMAN	T	98	ENSP00000299459:A98T	ENSP00000299459:A98T	A	-	1	0	OR2D2	6870016	0.000000	0.05858	0.045000	0.18777	0.003000	0.03518	-0.532000	0.06164	-0.048000	0.13401	-0.829000	0.03081	GCA		0.483	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	NM_003700		4	308	0	0	0	1	0	4	308				
MT1E	4493	broad.mit.edu	37	16	56660686	56660686	+	Intron	SNP	A	A	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr16:56660686A>G	ENST00000306061.6	+	3	471				MT1E_ENST00000568293.1_Intron|MT1E_ENST00000330439.6_Missense_Mutation_p.S113G	NM_175617.3	NP_783316.2	P04732	MT1E_HUMAN	metallothionein 1E						cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)										GACGAAAAAAAGCATCCTCTG	0.542																																						ENST00000330439.6																			0											c.(337-339)Agc>Ggc		metallothionein 1E																																				SO:0001627	intron_variant	4493					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding	g.chr16:56660686A>G	BC009699	CCDS10764.2	16q13	2008-08-11	2007-03-02		ENSG00000169715	ENSG00000169715		"""Metallothioneins"""	7397	protein-coding gene	gene with protein product		156351		MT1		6089206, 2581970	Standard	XM_005255956		Approved	MTD	uc002ejl.3	P04732	OTTHUMG00000133014	ENST00000306061.6:c.95-106A>G	16.37:g.56660686A>G			Somatic				MT1E_ENST00000306061.6_Intron|MT1E_ENST00000568293.1_Intron	p.S113G			WXS	Illumina GAIIx	Phase_I	P04732	MT1E_HUMAN			2	391	+			0					A2RRF7|Q86YX4|Q8TD51	Missense_Mutation	SNP	ENST00000306061.6	37	c.337A>G	CCDS10764.2	.	.	.	.	.	.	.	.	.	.	A	9.292	1.050974	0.19827	.	.	ENSG00000169715	ENST00000330439	T	0.36520	1.25	1.32	1.32	0.21799	.	.	.	.	.	T	0.17916	0.0430	.	.	.	0.09310	N	1	B	0.30584	0.286	B	0.22753	0.041	T	0.16217	-1.0410	7	.	.	.	.	4.7952	0.13269	1.0:0.0:0.0:0.0	.	113	P04732-2	.	G	113	ENSP00000328137:S113G	.	S	+	1	0	MT1E	55218187	0.000000	0.05858	0.002000	0.10522	0.032000	0.12392	-0.166000	0.09954	0.598000	0.29829	0.104000	0.15600	AGC		0.542	MT1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256600.1	NM_175617		6	12	0	0	0	1	0	6	12				
STPG2	285555	broad.mit.edu	37	4	99049685	99049685	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr4:99049685C>A	ENST00000295268.3	-	3	370	c.281G>T	c.(280-282)tGt>tTt	p.C94F		NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	94								p.C94F(1)									TGACTTTCCACAAGAAGGAAT	0.348																																						ENST00000295268.3																			1	Substitution - Missense(1)	p.C94F(1)	kidney(1)								c.(280-282)tGt>tTt		sperm-tail PG-rich repeat containing 2							63.0	60.0	61.0					4																	99049685		2203	4298	6501	SO:0001583	missense	285555							g.chr4:99049685C>A	BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 37"""	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.281G>T	4.37:g.99049685C>A	ENSP00000295268:p.Cys94Phe		Somatic					p.C94F	NM_174952.2	NP_777612.1	WXS	Illumina GAIIx	Phase_I					3	370	-									Missense_Mutation	SNP	ENST00000295268.3	37	c.281G>T	CCDS3645.1	.	.	.	.	.	.	.	.	.	.	C	1.631	-0.518958	0.04171	.	.	ENSG00000163116	ENST00000295268	T	0.10960	2.82	5.14	-1.64	0.08318	.	0.396254	0.26086	N	0.026432	T	0.03783	0.0107	N	0.14661	0.345	0.09310	N	0.999997	B	0.10296	0.003	B	0.11329	0.006	T	0.39603	-0.9606	10	0.10111	T	0.7	-23.1369	2.2579	0.04060	0.0989:0.318:0.2595:0.3236	.	94	Q8N412	CD037_HUMAN	F	94	ENSP00000295268:C94F	ENSP00000295268:C94F	C	-	2	0	C4orf37	99268708	0.763000	0.28462	0.061000	0.19648	0.219000	0.24729	-0.310000	0.08135	-0.653000	0.05401	-0.797000	0.03246	TGT		0.348	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		9	56	1	0	3.86212e-05	1	4.16622e-05	9	56				
TPTE2P2	644623	broad.mit.edu	37	13	52864028	52864028	+	RNA	SNP	C	C	T	rs200454029	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr13:52864028C>T	ENST00000451298.1	-	0	141																											TAGAATGATACTCCAAAGGAA	0.313																																						ENST00000451298.1																			0																																																			644623							g.chr13:52864028C>T																													13.37:g.52864028C>T			Somatic				RP11-64P12.8_ENST00000606031.1_RNA				WXS	Illumina GAIIx	Phase_I					0	141	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.313	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			3	60	0	0	0	1	0	3	60				
FAM50B	26240	broad.mit.edu	37	6	3850384	3850384	+	Silent	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:3850384C>T	ENST00000380274.1	+	1	765	c.339C>T	c.(337-339)cgC>cgT	p.R113R	FAM50B_ENST00000380272.3_Silent_p.R113R			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	113						nucleus (GO:0005634)		p.R113R(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				ggcGCGAGCGCAAGCGTAAGA	0.701																																						ENST00000380274.1																			1	Substitution - coding silent(1)	p.R113R(1)	kidney(1)	cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17						c.(337-339)cgC>cgT		family with sequence similarity 50, member B							17.0	23.0	21.0					6																	3850384		2201	4296	6497	SO:0001819	synonymous_variant	26240					nucleus		g.chr6:3850384C>T	Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.339C>T	6.37:g.3850384C>T			Somatic				FAM50B_ENST00000380272.3_Silent_p.R113R	p.R113R			WXS	Illumina GAIIx	Phase_I	Q9Y247	FA50B_HUMAN			1	765	+	Ovarian(93;0.0925)	all_hematologic(90;0.108)	113					Q5T2L6	Silent	SNP	ENST00000380274.1	37	c.339C>T	CCDS4487.1																																																																																				0.701	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	NM_012135		3	9	0	0	0	1	0	3	9				
FLG2	388698	broad.mit.edu	37	1	152323912	152323912	+	Missense_Mutation	SNP	A	A	C	rs374144111		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:152323912A>C	ENST00000388718.5	-	3	6422	c.6350T>G	c.(6349-6351)gTc>gGc	p.V2117G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2117					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)	p.V2117G(1)		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)			TGTGTGTGAGACCCCTGAGTG	0.532																																						ENST00000388718.5																			1	Substitution - Missense(1)	p.V2117G(1)	urinary_tract(1)	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.(6349-6351)gTc>gGc		filaggrin family member 2							477.0	438.0	451.0					1																	152323912		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152323912A>C	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.6350T>G	1.37:g.152323912A>C	ENSP00000373370:p.Val2117Gly		Somatic				FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.V2117G	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6422	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2117					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.6350T>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	A	5.301	0.240974	0.10077	.	.	ENSG00000143520	ENST00000388718	T	0.03717	3.83	4.56	-9.12	0.00707	.	.	.	.	.	T	0.00524	0.0017	N	0.21373	0.66	0.09310	N	1	B	0.18013	0.025	B	0.25291	0.059	T	0.47995	-0.9073	9	0.18276	T	0.48	0.2341	1.3298	0.02132	0.1533:0.2884:0.2867:0.2716	.	2117	Q5D862	FILA2_HUMAN	G	2117	ENSP00000373370:V2117G	ENSP00000373370:V2117G	V	-	2	0	FLG2	150590536	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.744000	0.01832	-2.782000	0.00360	-0.496000	0.04628	GTC		0.532	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		7	931	0	0	0	1	0	7	931				
DTNA	1837	broad.mit.edu	37	18	32405233	32405233	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr18:32405233A>T	ENST00000399113.3	+	9	1004	c.1004A>T	c.(1003-1005)gAt>gTt	p.D335V	DTNA_ENST00000598334.1_Intron|DTNA_ENST00000554864.3_Intron|DTNA_ENST00000598142.1_Missense_Mutation_p.D335V|DTNA_ENST00000269191.6_Missense_Mutation_p.D335V|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000597674.1_Intron|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000601125.1_Intron|DTNA_ENST00000269192.7_Intron|DTNA_ENST00000283365.9_Missense_Mutation_p.D335V|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000444659.1_Missense_Mutation_p.D335V|DTNA_ENST00000556414.3_Intron|DTNA_ENST00000591182.1_Intron|DTNA_ENST00000348997.5_Intron|DTNA_ENST00000315456.6_Missense_Mutation_p.D335V|DTNA_ENST00000599844.1_Intron|DTNA_ENST00000399097.3_Intron|DTNA_ENST00000598774.1_Missense_Mutation_p.D335V|DTNA_ENST00000399121.5_Intron|DTNA_ENST00000269190.7_Intron			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	335					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.D335V(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GCCAAAAGTGATACTTGGTAA	0.348																																						ENST00000283365.9																			2	Substitution - Missense(2)	p.D335V(2)	kidney(2)	endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1003-1005)gAt>gTt		dystrobrevin, alpha							226.0	205.0	212.0					18																	32405233		1863	4110	5973	SO:0001583	missense	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32405233A>T	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1004A>T	18.37:g.32405233A>T	ENSP00000382064:p.Asp335Val		Somatic				DTNA_ENST00000597674.1_Intron|DTNA_ENST00000399121.5_Intron|DTNA_ENST00000556414.3_Intron|DTNA_ENST00000598774.1_Missense_Mutation_p.D335V|DTNA_ENST00000554864.3_Intron|DTNA_ENST00000598142.1_Missense_Mutation_p.D335V|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000601125.1_Intron|DTNA_ENST00000591182.1_Intron|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000399113.3_Missense_Mutation_p.D335V|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000315456.6_Missense_Mutation_p.D335V|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000599844.1_Intron|DTNA_ENST00000348997.5_Intron|DTNA_ENST00000444659.1_Missense_Mutation_p.D335V|DTNA_ENST00000399097.3_Intron|DTNA_ENST00000269192.7_Intron|DTNA_ENST00000269190.7_Intron|DTNA_ENST00000269191.6_Missense_Mutation_p.D335V	p.D335V	NM_032975.3	NP_116757.2	WXS	Illumina GAIIx	Phase_I	Q9Y4J8	DTNA_HUMAN			11	1355	+			335					A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.1004A>T	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.001447	0.35320	.	.	ENSG00000134769	ENST00000283365;ENST00000315456;ENST00000444659;ENST00000269191;ENST00000399113	T;T;T;T;T	0.18657	2.25;2.27;2.25;2.2;2.25	5.52	5.52	0.82312	.	.	.	.	.	T	0.12561	0.0305	N	0.22421	0.69	0.80722	D	1	B;B;B;P;P	0.40302	0.019;0.078;0.038;0.712;0.463	B;B;B;B;B	0.28232	0.015;0.087;0.025;0.047;0.034	T	0.05666	-1.0871	9	0.56958	D	0.05	.	12.3128	0.54938	1.0:0.0:0.0:0.0	.	335;335;335;335;335	Q9Y4J8;Q9Y4J8-3;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7	DTNA_HUMAN;.;.;.;.	V	335	ENSP00000283365:D335V;ENSP00000322519:D335V;ENSP00000405819:D335V;ENSP00000269191:D335V;ENSP00000382064:D335V	ENSP00000269191:D335V	D	+	2	0	DTNA	30659231	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.899000	0.63245	2.216000	0.71823	0.528000	0.53228	GAT		0.348	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		47	101	0	0	0	1	0	47	101				
MOGAT3	346606	broad.mit.edu	37	7	100841499	100841499	+	Missense_Mutation	SNP	C	C	G	rs370137222		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr7:100841499C>G	ENST00000223114.4	-	5	807	c.641G>C	c.(640-642)gGc>gCc	p.G214A	MOGAT3_ENST00000379423.3_Missense_Mutation_p.G214A|MOGAT3_ENST00000440203.2_Missense_Mutation_p.G214A	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	214					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GCGCACGAAGCCTTTGCGCTT	0.647																																						ENST00000223114.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22						c.(640-642)gGc>gCc		monoacylglycerol O-acyltransferase 3		C	ALA/GLY	0,4406		0,0,2203	44.0	45.0	45.0		641	5.2	1.0	7		45	2,8598		0,2,4298	no	missense	MOGAT3	NM_178176.2	60	0,2,6501	GG,GC,CC		0.0233,0.0,0.0154	probably-damaging	214/342	100841499	2,13004	2203	4300	6503	SO:0001583	missense	346606				glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	g.chr7:100841499C>G	AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.641G>C	7.37:g.100841499C>G	ENSP00000223114:p.Gly214Ala		Somatic				MOGAT3_ENST00000379423.3_Missense_Mutation_p.G214A|MOGAT3_ENST00000440203.2_Missense_Mutation_p.G214A	p.G214A	NM_178176.2	NP_835470.1	WXS	Illumina GAIIx	Phase_I	Q86VF5	MOGT3_HUMAN			5	807	-	Lung NSC(181;0.168)|all_lung(186;0.215)		214					Q496A6|Q496A7|Q496A8|Q9UDW7	Missense_Mutation	SNP	ENST00000223114.4	37	c.641G>C	CCDS5714.1	.	.	.	.	.	.	.	.	.	.	.	21.3	4.133219	0.77662	0.0	2.33E-4	ENSG00000106384	ENST00000223114;ENST00000440203;ENST00000379423	T;T;T	0.36699	1.24;1.24;1.24	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.73837	0.3638	H	0.97440	4.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.84070	0.0379	10	0.87932	D	0	-30.5891	16.123	0.81375	0.0:1.0:0.0:0.0	.	214;214	Q86VF5-2;Q86VF5	.;MOGT3_HUMAN	A	214	ENSP00000223114:G214A;ENSP00000403756:G214A;ENSP00000368734:G214A	ENSP00000223114:G214A	G	-	2	0	MOGAT3	100628219	1.000000	0.71417	0.980000	0.43619	0.440000	0.31957	4.469000	0.60169	2.412000	0.81896	0.561000	0.74099	GGC		0.647	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	NM_178176		10	51	0	0	0	1	0	10	51				
KIF15	56992	broad.mit.edu	37	3	44816791	44816791	+	Silent	SNP	T	T	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr3:44816791T>C	ENST00000326047.4	+	3	257	c.108T>C	c.(106-108)ccT>ccC	p.P36P		NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	36	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.P36P(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TTCGTCCTCCTGCAGAAAGAT	0.438																																						ENST00000326047.4																			1	Substitution - coding silent(1)	p.P36P(1)	kidney(1)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36						c.(106-108)ccT>ccC		kinesin family member 15							156.0	138.0	144.0					3																	44816791		2203	4300	6503	SO:0001819	synonymous_variant	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44816791T>C	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.108T>C	3.37:g.44816791T>C			Somatic					p.P36P	NM_020242.2	NP_064627.1	WXS	Illumina GAIIx	Phase_I	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	3	257	+			36			Kinesin-motor.		Q17RV9|Q69YL6|Q96JX7|Q9H280	Silent	SNP	ENST00000326047.4	37	c.108T>C	CCDS33744.1																																																																																				0.438	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			52	93	0	0	0	1	0	52	93				
ADA	100	broad.mit.edu	37	20	43257753	43257753	+	Silent	SNP	G	G	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr20:43257753G>A	ENST00000372874.4	-	3	287	c.153C>T	c.(151-153)ggC>ggT	p.G51G	ADA_ENST00000464097.1_5'Flank|ADA_ENST00000537820.1_Silent_p.G51G	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	51					adenosine catabolic process (GO:0006154)|aging (GO:0007568)|cell adhesion (GO:0007155)|dATP catabolic process (GO:0046061)|deoxyadenosine catabolic process (GO:0006157)|embryonic digestive tract development (GO:0048566)|germinal center B cell differentiation (GO:0002314)|histamine secretion (GO:0001821)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|negative regulation of adenosine receptor signaling pathway (GO:0060169)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of mucus secretion (GO:0070256)|negative regulation of penile erection (GO:0060407)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleobase-containing small molecule metabolic process (GO:0055086)|Peyer's patch development (GO:0048541)|placenta development (GO:0001890)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of germinal center formation (GO:0002636)|positive regulation of heart rate (GO:0010460)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide salvage (GO:0032261)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|purine-containing compound salvage (GO:0043101)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to morphine (GO:0043278)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|trophectodermal cell differentiation (GO:0001829)|xanthine biosynthetic process (GO:0046111)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|lysosome (GO:0005764)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenosine deaminase activity (GO:0004000)|purine nucleoside binding (GO:0001883)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Dipyridamole(DB00975)|Edetic Acid(DB00974)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	GCTTGTCCATGCCAATGACGT	0.587									Adenosine Deaminase Deficiency																													ENST00000372874.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(151-153)ggC>ggT		adenosine deaminase	Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)						160.0	106.0	124.0					20																	43257753		2203	4300	6503	SO:0001819	synonymous_variant	100	Adenosine Deaminase Deficiency	Familial Cancer Database	Severe Combined Immunodeficiency (SCID) due to ADA-deficiency	adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding	g.chr20:43257753G>A	X02994	CCDS13335.1	20q13.12	2014-09-17			ENSG00000196839	ENSG00000196839	3.5.4.4		186	protein-coding gene	gene with protein product		608958				6198240, 6090454	Standard	NM_000022		Approved		uc002xmj.3	P00813	OTTHUMG00000033081	ENST00000372874.4:c.153C>T	20.37:g.43257753G>A			Somatic				ADA_ENST00000537820.1_Silent_p.G51G	p.G51G	NM_000022.2	NP_000013.2	WXS	Illumina GAIIx	Phase_I	P00813	ADA_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		3	287	-		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	51					Q53F92|Q6LA59	Silent	SNP	ENST00000372874.4	37	c.153C>T	CCDS13335.1																																																																																				0.587	ADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080509.2	NM_000022		4	70	0	0	0	1	0	4	70				
MTCL1	23255	broad.mit.edu	37	18	8813220	8813220	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr18:8813220A>G	ENST00000306329.11	+	10	3805	c.3805A>G	c.(3805-3807)Agg>Ggg	p.R1269G	SOGA2_ENST00000517570.1_Missense_Mutation_p.R909G|SOGA2_ENST00000518815.1_Missense_Mutation_p.R303G|SOGA2_ENST00000359865.3_Missense_Mutation_p.R950G|SOGA2_ENST00000400050.3_Missense_Mutation_p.R909G|SOGA2_ENST00000306285.7_Missense_Mutation_p.R303G																							ATTCTTGTGGAGGATAGAGCA	0.567																																						ENST00000359865.3																			0											c.(2848-2850)Agg>Ggg		SOGA family member 2							23.0	24.0	24.0					18																	8813220		2200	4300	6500	SO:0001583	missense	23255							g.chr18:8813220A>G																												ENST00000306329.11:c.3805A>G	18.37:g.8813220A>G	ENSP00000305027:p.Arg1269Gly		Somatic				SOGA2_ENST00000517570.1_Missense_Mutation_p.R909G|SOGA2_ENST00000518815.1_Missense_Mutation_p.R303G|SOGA2_ENST00000400050.3_Missense_Mutation_p.R909G|SOGA2_ENST00000306329.11_Missense_Mutation_p.R1269G|SOGA2_ENST00000306285.7_Missense_Mutation_p.R303G	p.R950G	NM_015210.3	NP_056025.2	WXS	Illumina GAIIx	Phase_I	Q9Y4B5	CC165_HUMAN			12	2990	+			1260						Missense_Mutation	SNP	ENST00000306329.11	37	c.2848A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.37|15.37	2.813120|2.813120	0.50527|0.50527	.|.	.|.	ENSG00000168502|ENSG00000168502	ENST00000519823|ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	.|T;T;T;T	.|0.54866	.|0.55;0.55;0.55;0.55	4.96|4.96	3.79|3.79	0.43588|0.43588	.|.	.|0.522764	.|0.17576	.|N	.|0.169294	T|T	0.56031|0.56031	0.1958|0.1958	M|M	0.71581|0.71581	2.175|2.175	0.32393|0.32393	N|N	0.55304|0.55304	.|P;P	.|0.47762	.|0.842;0.9	.|B;P	.|0.44990	.|0.321;0.466	T|T	0.68780|0.68780	-0.5318|-0.5318	5|10	.|0.87932	.|D	.|0	-9.0522|-9.0522	11.5958|11.5958	0.50972|0.50972	0.6871:0.3129:0.0:0.0|0.6871:0.3129:0.0:0.0	.|.	.|1260;950	.|Q9Y4B5;Q9Y4B5-3	.|CC165_HUMAN;.	G|G	83|971;909;950;909;303	.|ENSP00000429556:R909G;ENSP00000352927:R950G;ENSP00000382924:R909G;ENSP00000303670:R303G	.|ENSP00000303670:R303G	E|R	+|+	2|1	0|2	CCDC165|CCDC165	8803220|8803220	1.000000|1.000000	0.71417|0.71417	0.704000|0.704000	0.30370|0.30370	0.852000|0.852000	0.48524|0.48524	3.398000|3.398000	0.52579|0.52579	0.902000|0.902000	0.36520|0.36520	0.379000|0.379000	0.24179|0.24179	GAG|AGG		0.567	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			2	20	0	0	0	1	0	2	20				
PBX2	5089	broad.mit.edu	37	6	32156550	32156550	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:32156550C>T	ENST00000375050.4	-	2	515	c.245G>A	c.(244-246)cGa>cAa	p.R82Q	XXbac-BPG300A18.13_ENST00000559458.1_RNA	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	82					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.R82Q(1)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						AGGCTTCATTCGGTGGCAGTT	0.537																																						ENST00000375050.4																			1	Substitution - Missense(1)	p.R82Q(1)	kidney(1)	endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						c.(244-246)cGa>cAa		pre-B-cell leukemia homeobox 2							132.0	162.0	151.0					6																	32156550		1511	2709	4220	SO:0001583	missense	5089						transcription factor binding	g.chr6:32156550C>T		CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"""Homeoboxes / TALE class"""	8633	protein-coding gene	gene with protein product		176311	"""pre-B-cell leukemia transcription factor 2"""			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.245G>A	6.37:g.32156550C>T	ENSP00000364190:p.Arg82Gln		Somatic					p.R82Q	NM_002586.4	NP_002577.2	WXS	Illumina GAIIx	Phase_I	P40425	PBX2_HUMAN			2	515	-			82					A2BFJ2	Missense_Mutation	SNP	ENST00000375050.4	37	c.245G>A	CCDS4748.1	.	.	.	.	.	.	.	.	.	.	C	36	5.664631	0.96745	.	.	ENSG00000204304	ENST00000375050	T	0.36340	1.26	4.92	4.92	0.64577	PBX (1);	0.000000	0.56097	D	0.000040	T	0.58481	0.2125	M	0.86573	2.825	0.54753	D	0.999986	D;D	0.89917	0.999;1.0	D;D	0.77557	0.963;0.99	T	0.66858	-0.5817	10	0.66056	D	0.02	-13.9347	15.6112	0.76721	0.0:1.0:0.0:0.0	.	82;82	Q7KZE5;P40425	.;PBX2_HUMAN	Q	82	ENSP00000364190:R82Q	ENSP00000364190:R82Q	R	-	2	0	PBX2	32264528	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.638000	0.67861	2.270000	0.75569	0.561000	0.74099	CGA		0.537	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4			25	105	0	0	0	1	0	25	105				
KIAA1211L	343990	broad.mit.edu	37	2	99448880	99448880	+	Silent	SNP	G	G	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:99448880G>A	ENST00000397899.2	-	5	802	c.471C>T	c.(469-471)gaC>gaT	p.D157D	KIAA1211L_ENST00000462314.1_5'UTR	NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	157								p.D157D(2)									GCAGCCCGTCGTCCTCAGAGC	0.587																																						ENST00000397899.2																			2	Substitution - coding silent(2)	p.D157D(2)	endometrium(1)|kidney(1)								c.(469-471)gaC>gaT		KIAA1211-like							60.0	68.0	66.0					2																	99448880		1943	4143	6086	SO:0001819	synonymous_variant	343990							g.chr2:99448880G>A	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 55"""	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.471C>T	2.37:g.99448880G>A			Somatic				KIAA1211L_ENST00000462314.1_5'UTR	p.D157D	NM_207362.2	NP_997245.2	WXS	Illumina GAIIx	Phase_I					5	802	-									Silent	SNP	ENST00000397899.2	37	c.471C>T	CCDS42720.1																																																																																				0.587	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362		10	55	0	0	0	1	0	10	55				
BRINP1	1620	broad.mit.edu	37	9	121929783	121929783	+	Missense_Mutation	SNP	C	C	T	rs145920249		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr9:121929783C>T	ENST00000265922.3	-	8	2326	c.1865G>A	c.(1864-1866)cGg>cAg	p.R622Q	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	622					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											TAGCCGAGTCCGACTACGTAG	0.532																																						ENST00000265922.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1864-1866)cGg>cAg				C	GLN/ARG	0,4406		0,0,2203	130.0	126.0	127.0		1865	5.1	1.0	9	dbSNP_134	127	1,8599	1.2+/-3.3	0,1,4299	no	missense	DBC1	NM_014618.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	622/762	121929783	1,13005	2203	4300	6503	SO:0001583	missense	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121929783C>T	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1865G>A	9.37:g.121929783C>T	ENSP00000265922:p.Arg622Gln		Somatic				DBC1_ENST00000482797.1_Intron	p.R622Q	NM_014618.2	NP_055433.2	WXS	Illumina GAIIx	Phase_I	O60477	DBC1_HUMAN			8	2326	-			622					Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.1865G>A	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030702	0.75504	0.0	1.16E-4	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.17528	2.27	5.09	5.09	0.68999	.	0.055366	0.64402	N	0.000001	T	0.19604	0.0471	L	0.60455	1.87	0.80722	D	1	P	0.35011	0.48	B	0.23852	0.049	T	0.05084	-1.0907	10	0.87932	D	0	-24.7322	18.8724	0.92320	0.0:1.0:0.0:0.0	.	622	O60477	DBC1_HUMAN	Q	622	ENSP00000265922:R622Q	ENSP00000265922:R622Q	R	-	2	0	DBC1	120969604	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.015000	0.70791	2.540000	0.85666	0.655000	0.94253	CGG		0.532	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		3	151	0	0	0	1	0	3	151				
TRPA1	8989	broad.mit.edu	37	8	72959394	72959394	+	Nonsense_Mutation	SNP	G	G	A	rs200577993		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr8:72959394G>A	ENST00000262209.4	-	16	2161	c.1954C>T	c.(1954-1956)Cga>Tga	p.R652*	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	652					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TAATAGTCTCGGCAGGACTTG	0.284																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(1954-1956)Cga>Tga		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)	G	stop/ARG	1,4401	2.1+/-5.4	0,1,2200	64.0	72.0	69.0		1954	1.2	0.2	8		69	1,8593	1.2+/-3.3	0,1,4296	yes	stop-gained	TRPA1	NM_007332.2		0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154		652/1120	72959394	2,12994	2201	4297	6498	SO:0001587	stop_gained	8989					integral to plasma membrane		g.chr8:72959394G>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1954C>T	8.37:g.72959394G>A	ENSP00000262209:p.Arg652*		Somatic				RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	p.R652*	NM_007332.2	NP_015628.2	WXS	Illumina GAIIx	Phase_I	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		16	2161	-			652					A6NIN6	Nonsense_Mutation	SNP	ENST00000262209.4	37	c.1954C>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145004	0.77888	2.27E-4	1.16E-4	ENSG00000104321	ENST00000523582;ENST00000262209	.	.	.	5.28	1.16	0.20824	.	1.088120	0.06864	N	0.799562	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	1.6643	10.2092	0.43131	0.0:0.2288:0.4173:0.3539	.	.	.	.	X	504;652	.	ENSP00000262209:R652X	R	-	1	2	TRPA1	73121948	0.000000	0.05858	0.174000	0.22961	0.245000	0.25701	-0.255000	0.08769	0.194000	0.20326	-0.466000	0.05196	CGA		0.284	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		3	87	0	0	0	1	0	3	87				
BECN1	8678	broad.mit.edu	37	17	40970428	40970428	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:40970428C>A	ENST00000361523.4	-	7	626	c.494G>T	c.(493-495)tGt>tTt	p.C165F	BECN1_ENST00000590099.1_Missense_Mutation_p.C165F|BECN1_ENST00000438274.3_Missense_Mutation_p.C89F	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	165					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)		p.C165F(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		GATCTCCAAACAGCGTCTGCC	0.502																																						ENST00000361523.4																			1	Substitution - Missense(1)	p.C165F(1)	kidney(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13						c.(493-495)tGt>tTt		beclin 1, autophagy related							154.0	147.0	150.0					17																	40970428		2203	4300	6503	SO:0001583	missense	8678				anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding	g.chr17:40970428C>A	AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"""ATG6 autophagy related 6 homolog (S. cerevisiae)"""	604378	"""beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"""			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.494G>T	17.37:g.40970428C>A	ENSP00000355231:p.Cys165Phe		Somatic				BECN1_ENST00000590099.1_Missense_Mutation_p.C165F|BECN1_ENST00000438274.3_Missense_Mutation_p.C89F	p.C165F	NM_003766.3	NP_003757.1	WXS	Illumina GAIIx	Phase_I	Q14457	BECN1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0745)	7	626	-		Breast(137;0.00104)	165					B2R6N7|O75595|Q9UNA8	Missense_Mutation	SNP	ENST00000361523.4	37	c.494G>T	CCDS11441.1	.	.	.	.	.	.	.	.	.	.	C	2.719	-0.267029	0.05754	.	.	ENSG00000126581	ENST00000361523;ENST00000438274;ENST00000543382	T;T	0.36340	1.26;1.26	5.93	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.23688	0.0573	N	0.03115	-0.41	0.42070	D	0.991203	P;B	0.48162	0.906;0.002	P;B	0.52554	0.702;0.004	T	0.04165	-1.0972	10	0.07325	T	0.83	.	13.2549	0.60073	0.1277:0.7499:0.1224:0.0	.	89;165	E7EV84;Q14457	.;BECN1_HUMAN	F	165;89;78	ENSP00000355231:C165F;ENSP00000416173:C89F	ENSP00000355231:C165F	C	-	2	0	BECN1	38223954	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.263000	0.78421	0.816000	0.34421	0.655000	0.94253	TGT		0.502	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452405.1	NM_003766		37	126	1	0	2.59497e-14	1	2.98749e-14	37	126				
ABCB11	8647	broad.mit.edu	37	2	169787307	169787307	+	Silent	SNP	C	C	T	rs368393726		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:169787307C>T	ENST00000263817.6	-	25	3403	c.3279G>A	c.(3277-3279)tcG>tcA	p.S1093S		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1093	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)	p.S1093S(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TCAGAACTTGCGAGTCAGGTC	0.458																																						ENST00000263817.6																			1	Substitution - coding silent(1)	p.S1093S(1)	large_intestine(1)	breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57						c.(3277-3279)tcG>tcA		ATP-binding cassette, sub-family B (MDR/TAP), member 11	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						74.0	71.0	72.0					2																	169787307		1999	4151	6150	SO:0001819	synonymous_variant	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169787307C>T	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.3279G>A	2.37:g.169787307C>T			Somatic					p.S1093S	NM_003742.2	NP_003733.2	WXS	Illumina GAIIx	Phase_I	O95342	ABCBB_HUMAN			25	3403	-			1093			ABC transporter 2.		Q53TL2|Q9UNB2	Silent	SNP	ENST00000263817.6	37	c.3279G>A	CCDS46444.1																																																																																				0.458	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		4	68	0	0	0	1	0	4	68				
FASTKD1	79675	broad.mit.edu	37	2	170416921	170416921	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:170416921A>G	ENST00000453153.2	-	5	1293	c.947T>C	c.(946-948)aTt>aCt	p.I316T	FASTKD1_ENST00000453929.2_Missense_Mutation_p.I316T	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	316					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.I316T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						AGGTCCTGCAATGGGTCCCAA	0.358																																						ENST00000453153.2																			1	Substitution - Missense(1)	p.I316T(1)	kidney(1)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						c.(946-948)aTt>aCt		FAST kinase domains 1							96.0	108.0	104.0					2																	170416921		2187	4294	6481	SO:0001583	missense	79675				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:170416921A>G	AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.947T>C	2.37:g.170416921A>G	ENSP00000400513:p.Ile316Thr		Somatic				FASTKD1_ENST00000453929.2_Missense_Mutation_p.I316T	p.I316T	NM_024622.3	NP_078898.3	WXS	Illumina GAIIx	Phase_I	Q53R41	FAKD1_HUMAN			5	1293	-			316					Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	ENST00000453153.2	37	c.947T>C	CCDS33318.1	.	.	.	.	.	.	.	.	.	.	A	11.34	1.608424	0.28623	.	.	ENSG00000138399	ENST00000453153;ENST00000453929	T;T	0.18502	2.21;2.21	5.44	4.25	0.50352	.	1.885840	0.02208	N	0.062915	T	0.18173	0.0436	L	0.43152	1.355	0.29257	N	0.871577	P;P;P	0.43094	0.698;0.799;0.698	B;B;B	0.36092	0.108;0.217;0.108	T	0.34204	-0.9838	10	0.22706	T	0.39	-12.5173	11.6581	0.51330	0.8513:0.1487:0.0:0.0	.	293;316;316	D3DPC4;Q53R41-2;Q53R41	.;.;FAKD1_HUMAN	T	316	ENSP00000400513:I316T;ENSP00000403229:I316T	ENSP00000400513:I316T	I	-	2	0	FASTKD1	170125167	1.000000	0.71417	0.263000	0.24496	0.933000	0.57130	7.232000	0.78116	0.862000	0.35528	0.528000	0.53228	ATT		0.358	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622		62	135	0	0	0	1	0	62	135				
PCDHAC1	56135	broad.mit.edu	37	5	140308258	140308258	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:140308258C>T	ENST00000253807.2	+	1	1781	c.1781C>T	c.(1780-1782)gCc>gTc	p.A594V	PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.A594V|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	594	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTCTAATGCCTGGCTTTCC	0.507																																						ENST00000253807.2																			0				NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(1780-1782)gCc>gTc									96.0	98.0	97.0					5																	140308258		2203	4300	6503	SO:0001583	missense	56135							g.chr5:140308258C>T	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1781C>T	5.37:g.140308258C>T	ENSP00000253807:p.Ala594Val		Somatic				PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.A594V|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron	p.A594V	NM_018898.3	NP_061721.2	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1781	+								Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.1781C>T	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981336	0.74474	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.61274	0.12;0.12	5.95	5.95	0.96441	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.87152	0.6106	H	0.98721	4.31	0.34441	D	0.699638	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93601	0.6930	9	0.87932	D	0	.	20.3748	0.98911	0.0:1.0:0.0:0.0	.	594;594	Q9H158;Q9H158-2	PCDC1_HUMAN;.	V	594	ENSP00000386356:A594V;ENSP00000253807:A594V	ENSP00000253807:A594V	A	+	2	0	PCDHAC1	140288442	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	3.473000	0.53122	2.817000	0.96982	0.563000	0.77884	GCC		0.507	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		4	154	0	0	0	1	0	4	154				
BTBD7	55727	broad.mit.edu	37	14	93761005	93761005	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr14:93761005C>A	ENST00000334746.5	-	3	668	c.361G>T	c.(361-363)Gct>Tct	p.A121S	BTBD7_ENST00000298896.3_Missense_Mutation_p.A121S|BTBD7_ENST00000555525.1_Missense_Mutation_p.A121S|BTBD7_ENST00000393170.2_5'Flank|BTBD7_ENST00000554565.1_Intron	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	121					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)		p.A121S(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TCTGGTCTAGCCAAACTGGCT	0.408																																						ENST00000334746.5																			2	Substitution - Missense(2)	p.A121S(2)	kidney(2)	breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(361-363)Gct>Tct		BTB (POZ) domain containing 7							72.0	64.0	67.0					14																	93761005		2203	4300	6503	SO:0001583	missense	55727							g.chr14:93761005C>A	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.361G>T	14.37:g.93761005C>A	ENSP00000335615:p.Ala121Ser		Somatic				BTBD7_ENST00000298896.3_Missense_Mutation_p.A121S|BTBD7_ENST00000555525.1_Missense_Mutation_p.A121S|BTBD7_ENST00000554565.1_Intron	p.A121S	NM_001002860.2	NP_001002860.2	WXS	Illumina GAIIx	Phase_I	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	3	668	-		all_cancers(154;0.08)	121					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	c.361G>T	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153031	0.78001	.	.	ENSG00000011114	ENST00000334746;ENST00000298896;ENST00000555525	T	0.41400	1.0	5.38	5.38	0.77491	BTB/POZ fold (1);	0.000000	0.85682	D	0.000000	T	0.63850	0.2546	M	0.64170	1.965	0.80722	D	1	D;D;D	0.69078	0.996;0.996;0.997	D;D;D	0.77557	0.99;0.986;0.985	T	0.62473	-0.6847	10	0.49607	T	0.09	.	19.487	0.95033	0.0:1.0:0.0:0.0	.	121;121;121	Q9P203-3;G3V3T2;Q9P203	.;.;BTBD7_HUMAN	S	121	ENSP00000335615:A121S	ENSP00000298896:A121S	A	-	1	0	BTBD7	92830758	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.687000	0.91594	0.655000	0.94253	GCT		0.408	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		8	44	1	0	2.61681e-11	1	2.96284e-11	8	44				
CFI	3426	broad.mit.edu	37	4	110667432	110667432	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr4:110667432A>G	ENST00000394634.2	-	11	1582	c.1375T>C	c.(1375-1377)Tac>Cac	p.Y459H	CFI_ENST00000512148.1_Missense_Mutation_p.Y452H|CFI_ENST00000394635.3_Missense_Mutation_p.Y467H	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	459	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TGGAATAGGTAAGGAGACCAG	0.413																																						ENST00000394634.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27						c.(1375-1377)Tac>Cac		complement factor I							153.0	135.0	141.0					4																	110667432		2203	4300	6503	SO:0001583	missense	3426				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr4:110667432A>G	J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"""Complement system"""	5394	protein-coding gene	gene with protein product	"""Konglutinogen-activating factor"", ""C3b-inactivator"""	217030	"""I factor (complement)"""	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.1375T>C	4.37:g.110667432A>G	ENSP00000378130:p.Tyr459His		Somatic				CFI_ENST00000394635.3_Missense_Mutation_p.Y467H|CFI_ENST00000512148.1_Missense_Mutation_p.Y452H	p.Y459H	NM_000204.3	NP_000195.2	WXS	Illumina GAIIx	Phase_I	P05156	CFAI_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000331)	11	1582	-		Hepatocellular(203;0.217)	459			Peptidase S1.		O60442	Missense_Mutation	SNP	ENST00000394634.2	37	c.1375T>C	CCDS34049.1	.	.	.	.	.	.	.	.	.	.	A	5.769	0.326254	0.10900	.	.	ENSG00000205403	ENST00000394635;ENST00000394634;ENST00000512148	D;D;D	0.88818	-2.43;-2.43;-2.43	5.73	5.73	0.89815	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.279757	0.35936	N	0.002894	T	0.80025	0.4548	N	0.19112	0.55	0.26792	N	0.969389	B;B;B	0.25351	0.046;0.001;0.124	B;B;B	0.28465	0.066;0.011;0.09	T	0.66060	-0.6017	10	0.16420	T	0.52	-23.5093	10.6576	0.45684	0.9255:0.0:0.0745:0.0	.	467;452;459	E7ETH0;G3XAM2;P05156	.;.;CFAI_HUMAN	H	467;459;452	ENSP00000378131:Y467H;ENSP00000378130:Y459H;ENSP00000427438:Y452H	ENSP00000378130:Y459H	Y	-	1	0	CFI	110886881	0.931000	0.31567	0.200000	0.23457	0.037000	0.13140	2.156000	0.42310	2.192000	0.70111	0.456000	0.33151	TAC		0.413	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_000204		3	119	0	0	0	1	0	3	119				
TMEM145	284339	broad.mit.edu	37	19	42820894	42820894	+	Splice_Site	SNP	T	T	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr19:42820894T>C	ENST00000301204.3	+	10	847		c.e10+2		TMEM145_ENST00000598766.1_Splice_Site	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145						G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)		p.?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				GGTGACACGGTGCCCGGGCAG	0.682																																						ENST00000598766.1																			1	Unknown(1)	p.?(1)	kidney(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27						c.e10+2		transmembrane protein 145							64.0	62.0	63.0					19																	42820894		2203	4300	6503	SO:0001630	splice_region_variant	284339					integral to membrane		g.chr19:42820894T>C	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.806+2T>C	19.37:g.42820894T>C			Somatic				TMEM145_ENST00000301204.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q8NBT3	TM145_HUMAN			10	878	+		Prostate(69;0.00682)							Splice_Site	SNP	ENST00000301204.3	37		CCDS12603.1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.742576	0.69418	.	.	ENSG00000167619	ENST00000301204	.	.	.	3.76	3.76	0.43208	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7581	0.46249	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM145	47512734	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.295000	0.72744	1.500000	0.48636	0.374000	0.22700	.		0.682	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633	Intron	66	139	0	0	0	1	0	66	139				
TTC17	55761	broad.mit.edu	37	11	43513701	43513701	+	Silent	SNP	C	C	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:43513701C>A	ENST00000039989.4	+	23	3296	c.3282C>A	c.(3280-3282)gtC>gtA	p.V1094V		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	1094					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TGGGCAATGTCTACGTGGCAA	0.483																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(3280-3282)gtC>gtA		tetratricopeptide repeat domain 17							215.0	166.0	182.0					11																	43513701		2203	4300	6503	SO:0001819	synonymous_variant	55761						binding	g.chr11:43513701C>A	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.3282C>A	11.37:g.43513701C>A			Somatic					p.V1094V	NM_018259.5	NP_060729.2	WXS	Illumina GAIIx	Phase_I	Q96AE7	TTC17_HUMAN			23	3296	+			1094					G3XAB3|Q8NEC0	Silent	SNP	ENST00000039989.4	37	c.3282C>A	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	C	6.020	0.372047	0.11409	.	.	ENSG00000052841	ENST00000418561	.	.	.	5.61	3.73	0.42828	.	.	.	.	.	T	0.59335	0.2186	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54282	-0.8317	4	.	.	.	-16.2966	9.3144	0.37926	0.1435:0.7838:0.0:0.0727	.	.	.	.	Y	125	.	.	S	+	2	0	TTC17	43470277	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	2.490000	0.45294	0.714000	0.32081	0.655000	0.94253	TCT		0.483	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		5	430	1	0	0.248553	1	0.25038	5	430				
ABLIM1	3983	broad.mit.edu	37	10	116201492	116201492	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr10:116201492C>A	ENST00000277895.5	-	18	2084	c.1987G>T	c.(1987-1989)Ggg>Tgg	p.G663W	ABLIM1_ENST00000533213.2_Missense_Mutation_p.G603W|ABLIM1_ENST00000369266.3_Missense_Mutation_p.G340W|ABLIM1_ENST00000369252.4_Missense_Mutation_p.G603W|ABLIM1_ENST00000392952.3_Missense_Mutation_p.G340W|ABLIM1_ENST00000369253.2_Missense_Mutation_p.G286W	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	663					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.G340W(1)|p.G663W(1)|p.G603W(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CGGTGAAGCCCATTTCTTCCA	0.428																																						ENST00000533213.2																			3	Substitution - Missense(3)	p.G340W(1)|p.G663W(1)|p.G603W(1)	kidney(3)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30						c.(1807-1809)Ggg>Tgg		actin binding LIM protein 1							148.0	140.0	143.0					10																	116201492		2203	4300	6503	SO:0001583	missense	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116201492C>A	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.1987G>T	10.37:g.116201492C>A	ENSP00000277895:p.Gly663Trp		Somatic				ABLIM1_ENST00000277895.5_Missense_Mutation_p.G663W|ABLIM1_ENST00000369266.3_Missense_Mutation_p.G340W|ABLIM1_ENST00000369253.2_Missense_Mutation_p.G286W|ABLIM1_ENST00000392952.3_Missense_Mutation_p.G340W|ABLIM1_ENST00000369252.4_Missense_Mutation_p.G603W	p.G603W			WXS	Illumina GAIIx	Phase_I	O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	18	2108	-		Colorectal(252;0.0373)|Breast(234;0.231)	663					A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	37	c.1807G>T	CCDS7590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.2|29.2	4.985234|4.985234	0.93044|0.93044	.|.	.|.	ENSG00000099204|ENSG00000099204	ENST00000336585;ENST00000369252;ENST00000392952;ENST00000369257;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369266;ENST00000369256;ENST00000369260;ENST00000277895;ENST00000369253|ENST00000392955	T;T;T;T|.	0.40476|.	1.03;1.03;1.03;1.03|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79885|0.79885	0.4523|0.4523	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D;D|.	0.97110|.	0.999;0.999;0.999;0.972;0.997;1.0;0.999;0.998;1.0|.	T|T	0.79960|0.79960	-0.1583|-0.1583	10|5	0.56958|.	D|.	0.05|.	.|.	18.5344|18.5344	0.91004|0.91004	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	540;265;603;631;663;340;633;587;286|.	B7Z4H1;B4DQA3;F8W8M4;A6NKJ2;O14639;O14639-5;B3KVH2;C9K0X4;O14639-4|.	.;.;.;.;ABLM1_HUMAN;.;.;.;.|.	W|I	663;603;340;286;631;603;731;587;340;587;540;731;415|536	ENSP00000358256:G603W;ENSP00000376679:G340W;ENSP00000433629:G603W;ENSP00000358270:G340W|.	ENSP00000277895:G731W|.	G|M	-|-	1|3	0|0	ABLIM1|ABLIM1	116191482|116191482	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.997000|0.997000	0.91878|0.91878	7.431000|7.431000	0.80335|0.80335	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GGG|ATG		0.428	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			18	104	1	0	8.34094e-07	1	9.14167e-07	18	104				
TTC17	55761	broad.mit.edu	37	11	43429097	43429097	+	Silent	SNP	A	A	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:43429097A>G	ENST00000039989.4	+	15	2048	c.2034A>G	c.(2032-2034)ctA>ctG	p.L678L	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Silent_p.L678L	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	678					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.L678L(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CTAAGCTGCTACTTCAAGCTT	0.388																																						ENST00000039989.4																			1	Substitution - coding silent(1)	p.L678L(1)	kidney(1)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(2032-2034)ctA>ctG		tetratricopeptide repeat domain 17							75.0	67.0	70.0					11																	43429097		2203	4299	6502	SO:0001819	synonymous_variant	55761						binding	g.chr11:43429097A>G	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.2034A>G	11.37:g.43429097A>G			Somatic				TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Silent_p.L678L	p.L678L	NM_018259.5	NP_060729.2	WXS	Illumina GAIIx	Phase_I	Q96AE7	TTC17_HUMAN			15	2048	+			678					G3XAB3|Q8NEC0	Silent	SNP	ENST00000039989.4	37	c.2034A>G	CCDS31466.1																																																																																				0.388	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		33	67	0	0	0	1	0	33	67				
TBX3	6926	broad.mit.edu	37	12	115117393	115117393	+	Silent	SNP	A	A	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:115117393A>G	ENST00000257566.3	-	4	1170	c.781T>C	c.(781-783)Ttg>Ctg	p.L261L	TBX3_ENST00000349155.2_Silent_p.L241L	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	261					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L261L(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GGGAGTTTCAAGATGTCATTG	0.438																																						ENST00000349155.2																			1	Substitution - coding silent(1)	p.L261L(1)	kidney(1)	breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(721-723)Ttg>Ctg		T-box 3							190.0	186.0	188.0					12																	115117393		2203	4300	6503	SO:0001819	synonymous_variant	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115117393A>G	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.781T>C	12.37:g.115117393A>G			Somatic				TBX3_ENST00000257566.3_Silent_p.L261L	p.L241L	NM_005996.3	NP_005987.3	WXS	Illumina GAIIx	Phase_I	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	3	1684	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		261					Q8TB20|Q9UKF8	Silent	SNP	ENST00000257566.3	37	c.721T>C	CCDS9176.1																																																																																				0.438	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		60	368	0	0	0	1	0	60	368				
SPTY2D1	144108	broad.mit.edu	37	11	18636763	18636763	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:18636763G>A	ENST00000336349.5	-	3	1293	c.1058C>T	c.(1057-1059)cCt>cTt	p.P353L	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	353	Ser-rich.							p.P353L(1)		breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CATGGGCCCAGGCCTGGAATG	0.557																																						ENST00000336349.5																			1	Substitution - Missense(1)	p.P353L(1)	kidney(1)	breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						c.(1057-1059)cCt>cTt		SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)							112.0	122.0	118.0					11																	18636763		2199	4293	6492	SO:0001583	missense	144108							g.chr11:18636763G>A	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1058C>T	11.37:g.18636763G>A	ENSP00000337991:p.Pro353Leu		Somatic					p.P353L	NM_194285.2	NP_919261.2	WXS	Illumina GAIIx	Phase_I	Q68D10	SPT2_HUMAN			3	1293	-			353			Ser-rich.		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	ENST00000336349.5	37	c.1058C>T	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.396315	0.62177	.	.	ENSG00000179119	ENST00000336349	T	0.16743	2.32	5.84	5.84	0.93424	.	0.344807	0.31123	N	0.008211	T	0.16085	0.0387	L	0.34521	1.04	0.49389	D	0.999789	P	0.42785	0.79	B	0.41571	0.36	T	0.00942	-1.1506	10	0.45353	T	0.12	-5.7793	13.3441	0.60561	0.0721:0.0:0.9279:0.0	.	353	Q68D10	SPT2_HUMAN	L	353	ENSP00000337991:P353L	ENSP00000337991:P353L	P	-	2	0	SPTY2D1	18593339	0.553000	0.26513	1.000000	0.80357	0.777000	0.43975	1.392000	0.34486	2.762000	0.94881	0.563000	0.77884	CCT		0.557	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285		73	164	0	0	0	1	0	73	164				
ZDHHC2	51201	broad.mit.edu	37	8	17067943	17067943	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr8:17067943C>T	ENST00000262096.8	+	10	1599	c.904C>T	c.(904-906)Cct>Tct	p.P302S		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	302					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|recycling endosome membrane (GO:0055038)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.P302S(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		TAACCAGGATCCTGAACAAGC	0.343																																						ENST00000262096.8																			1	Substitution - Missense(1)	p.P302S(1)	kidney(1)	endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8						c.(904-906)Cct>Tct		zinc finger, DHHC-type containing 2							78.0	73.0	75.0					8																	17067943		1839	4096	5935	SO:0001583	missense	51201					integral to membrane	acyltransferase activity|zinc ion binding	g.chr8:17067943C>T	AB023584	CCDS47810.1	8p22	2008-05-15			ENSG00000104219	ENSG00000104219		"""Zinc fingers, DHHC-type"""	18469	protein-coding gene	gene with protein product						10918388	Standard	NM_016353		Approved	ZNF372	uc003wxe.3	Q9UIJ5	OTTHUMG00000163860	ENST00000262096.8:c.904C>T	8.37:g.17067943C>T	ENSP00000262096:p.Pro302Ser		Somatic					p.P302S	NM_016353.4	NP_057437.1	WXS	Illumina GAIIx	Phase_I	Q9UIJ5	ZDHC2_HUMAN		Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)	10	1599	+			302					D3DSP5	Missense_Mutation	SNP	ENST00000262096.8	37	c.904C>T	CCDS47810.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270646	0.59540	.	.	ENSG00000104219	ENST00000262096	T	0.42513	0.97	5.53	5.53	0.82687	.	0.103881	0.64402	D	0.000002	T	0.49712	0.1573	M	0.73962	2.25	0.53688	D	0.999973	P	0.42827	0.791	B	0.43413	0.419	T	0.44267	-0.9339	10	0.15066	T	0.55	-3.4297	19.8416	0.96692	0.0:1.0:0.0:0.0	.	302	Q9UIJ5	ZDHC2_HUMAN	S	302	ENSP00000262096:P302S	ENSP00000262096:P302S	P	+	1	0	ZDHHC2	17112314	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.874000	0.48483	2.774000	0.95407	0.585000	0.79938	CCT		0.343	ZDHHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376014.2	NM_016353		9	52	0	0	0	1	0	9	52				
EDA	1896	broad.mit.edu	37	X	69255287	69255287	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chrX:69255287G>T	ENST00000374552.4	+	8	1246	c.1004G>T	c.(1003-1005)aGc>aTc	p.S335I	EDA_ENST00000374553.2_Missense_Mutation_p.S333I|EDA_ENST00000524573.1_Missense_Mutation_p.S330I	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	335					cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.S335I(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						TGCACACGCAGCATCGAGACG	0.547																																						ENST00000374552.4																			2	Substitution - Missense(2)	p.S335I(2)	kidney(2)	breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(1003-1005)aGc>aTc		ectodysplasin A							109.0	69.0	82.0					X																	69255287		2203	4300	6503	SO:0001583	missense	1896				cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding	g.chrX:69255287G>T	U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"""Tumor necrosis factor (ligand) superfamily"""	3157	protein-coding gene	gene with protein product		300451	"""ectodermal dysplasia 1, anhidrotic"", ""oligodontia 1"""	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.1004G>T	X.37:g.69255287G>T	ENSP00000363680:p.Ser335Ile		Somatic				EDA_ENST00000524573.1_Missense_Mutation_p.S330I|EDA_ENST00000374553.2_Missense_Mutation_p.S333I	p.S335I	NM_001399.4	NP_001390.1	WXS	Illumina GAIIx	Phase_I	Q92838	EDA_HUMAN			8	1246	+			335					A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Missense_Mutation	SNP	ENST00000374552.4	37	c.1004G>T	CCDS14394.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843514	0.91197	.	.	ENSG00000158813	ENST00000374552;ENST00000374553;ENST00000524573	D;D;D	0.99532	-3.44;-6.1;-6.1	5.42	5.42	0.78866	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.000000	0.85682	D	0.000000	D	0.99573	0.9846	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.98186	1.0460	10	0.87932	D	0	-15.2628	17.1546	0.86787	0.0:0.0:1.0:0.0	.	330;335;333	Q92838-9;Q92838;Q92838-3	.;EDA_HUMAN;.	I	335;333;330	ENSP00000363680:S335I;ENSP00000363681:S333I;ENSP00000432585:S330I	ENSP00000363680:S335I	S	+	2	0	EDA	69172012	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.125000	0.94402	2.261000	0.74972	0.529000	0.55759	AGC		0.547	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2	NM_001399		10	9	1	0	0.000673444	1	0.000709706	10	9				
ZNF18	7566	broad.mit.edu	37	17	11895959	11895959	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:11895959C>T	ENST00000322748.3	-	4	792	c.188G>A	c.(187-189)cGg>cAg	p.R63Q	ZNF18_ENST00000454073.3_Missense_Mutation_p.R63Q|ZNF18_ENST00000580306.2_Missense_Mutation_p.R63Q	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	63	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		ACAGAGCTTCCGAAGTTGCTT	0.542																																						ENST00000322748.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14						c.(187-189)cGg>cAg		zinc finger protein 18							87.0	82.0	84.0					17																	11895959		2203	4300	6503	SO:0001583	missense	7566				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:11895959C>T	X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12969	protein-coding gene	gene with protein product		194524	"""zinc finger protein 18 (KOX 11)"""			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.188G>A	17.37:g.11895959C>T	ENSP00000315664:p.Arg63Gln		Somatic				ZNF18_ENST00000454073.3_Missense_Mutation_p.R63Q|ZNF18_ENST00000580613.1_Missense_Mutation_p.R12Q|ZNF18_ENST00000580306.1_Missense_Mutation_p.R63Q	p.R63Q	NM_144680.2	NP_653281.2	WXS	Illumina GAIIx	Phase_I	P17022	ZNF18_HUMAN		Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)	4	792	-			63			SCAN box.		Q5QHQ3|Q8IYC4|Q8NAH6	Missense_Mutation	SNP	ENST00000322748.3	37	c.188G>A	CCDS32568.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.382142	0.42207	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	T;T	0.05025	3.51;3.51	5.29	5.29	0.74685	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.43110	D	0.000607	T	0.17534	0.0421	L	0.46741	1.465	0.30883	N	0.731238	D;D	0.60160	0.98;0.987	P;D	0.64776	0.703;0.929	T	0.00587	-1.1657	10	0.66056	D	0.02	-31.743	14.443	0.67330	0.0:1.0:0.0:0.0	.	63;63	P17022-2;P17022	.;ZNF18_HUMAN	Q	63	ENSP00000391376:R63Q;ENSP00000315664:R63Q	ENSP00000315664:R63Q	R	-	2	0	ZNF18	11836684	0.797000	0.28877	0.996000	0.52242	0.788000	0.44548	1.476000	0.35420	2.473000	0.83533	0.655000	0.94253	CGG		0.542	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441450.2	XM_085596		3	98	0	0	0	1	0	3	98				
FAF2	23197	broad.mit.edu	37	5	175923576	175923576	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:175923576G>A	ENST00000261942.6	+	8	804	c.751G>A	c.(751-753)Ggc>Agc	p.G251S		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	251					lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						ACGGCTAGAAGGCCTCATTCA	0.463																																						ENST00000261942.6																			0				breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						c.(751-753)Ggc>Agc		Fas associated factor family member 2							193.0	164.0	174.0					5																	175923576		2203	4300	6503	SO:0001583	missense	23197				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding	g.chr5:175923576G>A	BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"""UBX domain containing"""	24666	protein-coding gene	gene with protein product	"""expressed in T cells and eosinophils in atopic dermatitis"", ""UBX domain protein 3B"""		"""UBX domain containing 8"""	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.751G>A	5.37:g.175923576G>A	ENSP00000261942:p.Gly251Ser		Somatic					p.G251S	NM_014613.2	NP_055428.1	WXS	Illumina GAIIx	Phase_I	Q96CS3	FAF2_HUMAN			8	804	+			251					O94963|Q8IUF2|Q9BRP2|Q9BVM7	Missense_Mutation	SNP	ENST00000261942.6	37	c.751G>A	CCDS34296.1	.	.	.	.	.	.	.	.	.	.	G	36	5.907732	0.97093	.	.	ENSG00000113194	ENST00000261942	T	0.57752	0.38	6.03	6.03	0.97812	UAS (1);	0.000000	0.85682	D	0.000000	T	0.77082	0.4078	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77419	-0.2595	10	0.59425	D	0.04	-14.5683	20.5596	0.99324	0.0:0.0:1.0:0.0	.	251	Q96CS3	FAF2_HUMAN	S	251	ENSP00000261942:G251S	ENSP00000261942:G251S	G	+	1	0	FAF2	175856182	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.334000	0.96470	2.868000	0.98415	0.555000	0.69702	GGC		0.463	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372194.1	NM_014613		6	272	0	0	0	1	0	6	272				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	284802							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr		Somatic				FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T	p.A83T			WXS	Illumina GAIIx	Phase_I					6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	287	0	0	0	1	0	4	287				
TUBA1A	7846	broad.mit.edu	37	12	49580152	49580152	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:49580152C>T	ENST00000295766.5	-	3	795	c.316G>A	c.(316-318)Ggg>Agg	p.G106R	TUBA1A_ENST00000546918.1_Silent_p.E156E|TUBA1A_ENST00000550767.1_Missense_Mutation_p.G71R|TUBA1A_ENST00000301071.7_Missense_Mutation_p.G106R	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	106					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	GTGTAGTGCCCTCGGGCATAG	0.463																																					Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)	ENST00000301071.7																			0				stomach(1)|upper_aerodigestive_tract(1)	2						c.(316-318)Ggg>Agg		tubulin, alpha 1a							140.0	144.0	142.0					12																	49580152		2203	4300	6503	SO:0001583	missense	7846				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr12:49580152C>T	AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"""Tubulins"""	20766	protein-coding gene	gene with protein product	"""tubulin, alpha, brain-specific"""	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.316G>A	12.37:g.49580152C>T	ENSP00000439020:p.Gly106Arg		Somatic				TUBA1A_ENST00000546918.1_Silent_p.E156E|TUBA1A_ENST00000295766.5_Missense_Mutation_p.G106R|TUBA1A_ENST00000550767.1_Missense_Mutation_p.G71R	p.G106R	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	WXS	Illumina GAIIx	Phase_I	Q71U36	TBA1A_HUMAN			3	660	-			106					A8K0B8|G3V1U9|P04687|P05209	Missense_Mutation	SNP	ENST00000295766.5	37	c.316G>A	CCDS58227.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229244	0.58777	.	.	ENSG00000167552	ENST00000301071;ENST00000295766;ENST00000550767;ENST00000547939;ENST00000552924	D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61	5.22	5.22	0.72569	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.64402	D	0.000001	D	0.95262	0.8463	H	0.99225	4.475	0.80722	D	1	D	0.65815	0.995	D	0.73380	0.98	D	0.97311	0.9937	10	0.87932	D	0	.	17.9382	0.89019	0.0:1.0:0.0:0.0	.	106	Q71U36	TBA1A_HUMAN	R	106;106;71;71;71	ENSP00000301071:G106R;ENSP00000439020:G106R;ENSP00000446637:G71R;ENSP00000450268:G71R;ENSP00000448725:G71R	ENSP00000439020:G106R	G	-	1	0	TUBA1A	47866419	1.000000	0.71417	0.813000	0.32504	0.995000	0.86356	7.518000	0.81795	2.605000	0.88082	0.561000	0.74099	GGG		0.463	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404547.2	NM_006009		4	358	0	0	0	1	0	4	358				
RNF180	285671	broad.mit.edu	37	5	63509694	63509694	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:63509694G>T	ENST00000389100.4	+	4	613	c.541G>T	c.(541-543)Gca>Tca	p.A181S	RNF180_ENST00000296615.6_Missense_Mutation_p.A181S|RNF180_ENST00000381081.2_Intron	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	181					adult behavior (GO:0030534)|norepinephrine metabolic process (GO:0042415)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|regulation of catalytic activity (GO:0050790)|serotonin metabolic process (GO:0042428)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A181S(2)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		ATTAACAGAAGCACTCTGCCT	0.443																																						ENST00000389100.4																			2	Substitution - Missense(2)	p.A181S(2)	kidney(2)	breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(541-543)Gca>Tca		ring finger protein 180							60.0	67.0	65.0					5																	63509694		2203	4300	6503	SO:0001583	missense	285671					integral to membrane|nuclear envelope	zinc ion binding	g.chr5:63509694G>T	AK090756	CCDS34169.1, CCDS47219.1	5q12.3	2013-01-09			ENSG00000164197	ENSG00000164197		"""RING-type (C3HC4) zinc fingers"""	27752	protein-coding gene	gene with protein product							Standard	NM_178532		Approved		uc003jti.3	Q86T96	OTTHUMG00000162278	ENST00000389100.4:c.541G>T	5.37:g.63509694G>T	ENSP00000373752:p.Ala181Ser		Somatic				RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Missense_Mutation_p.A181S	p.A181S	NM_001113561.1	NP_001107033.1	WXS	Illumina GAIIx	Phase_I	Q86T96	RN180_HUMAN		Lung(70;0.114)	4	613	+		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)	181					Q0JSU3|Q495A8|Q8NBD1	Missense_Mutation	SNP	ENST00000389100.4	37	c.541G>T	CCDS47219.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262080	0.80358	.	.	ENSG00000164197	ENST00000296615;ENST00000389100	T	0.62105	0.05	6.08	6.08	0.98989	.	0.160135	0.56097	D	0.000036	T	0.78855	0.4349	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.78695	-0.2104	10	0.87932	D	0	-12.8039	19.6529	0.95825	0.0:0.0:1.0:0.0	.	181;181	Q86T96;Q86T96-2	RN180_HUMAN;.	S	181	ENSP00000373752:A181S	ENSP00000296615:A181S	A	+	1	0	RNF180	63545450	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.122000	0.77169	2.890000	0.99128	0.655000	0.94253	GCA		0.443	RNF180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368394.1	NM_178532		29	138	1	0	9.80776e-20	1	1.1387e-19	29	138				
NYX	60506	broad.mit.edu	37	X	41307152	41307152	+	Nonsense_Mutation	SNP	C	C	T	rs371622974		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chrX:41307152C>T	ENST00000342595.2	+	1	466	c.10C>T	c.(10-12)Cga>Tga	p.R4*	NYX_ENST00000378220.1_Nonsense_Mutation_p.R4*	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	4					response to stimulus (GO:0050896)|visual perception (GO:0007601)	intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)		p.R4*(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						GATGAAAGGCCGAGGGATGTT	0.617																																						ENST00000342595.2																			1	Substitution - Nonsense(1)	p.R4*(1)	kidney(1)	NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						c.(10-12)Cga>Tga		nyctalopin		C	stop/ARG	0,3835		0,0,1632,571	136.0	97.0	110.0		10	-0.7	0.0	X		110	1,6727		0,1,2427,1872	no	stop-gained	NYX	NM_022567.2		0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095		4/482	41307152	1,10562	2203	4300	6503	SO:0001587	stop_gained	60506				response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix		g.chrX:41307152C>T	AF254868	CCDS14256.1	Xp11.4	2014-01-28			ENSG00000188937	ENSG00000188937			8082	protein-coding gene	gene with protein product		300278		CSNB1, CSNB4		11062471, 11062472	Standard	NM_022567		Approved	CLRP, CSNB1A	uc004dfh.2	Q9GZU5	OTTHUMG00000021370	ENST00000342595.2:c.10C>T	X.37:g.41307152C>T	ENSP00000340328:p.Arg4*		Somatic				NYX_ENST00000378220.1_Nonsense_Mutation_p.R4*	p.R4*	NM_022567.2	NP_072089.1	WXS	Illumina GAIIx	Phase_I	Q9GZU5	NYX_HUMAN			1	466	+			4					D3DWC0|Q2M1S4|Q5H983|Q9H4J0	Nonsense_Mutation	SNP	ENST00000342595.2	37	c.10C>T	CCDS14256.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903162	0.72754	0.0	1.49E-4	ENSG00000188937	ENST00000342595;ENST00000378220	.	.	.	4.46	-0.663	0.11410	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.892	0.01256	0.1622:0.3878:0.1557:0.2944	.	.	.	.	X	4	.	ENSP00000340328:R4X	R	+	1	2	NYX	41192096	0.000000	0.05858	0.000000	0.03702	0.461000	0.32589	-0.231000	0.09069	-0.416000	0.07473	-0.852000	0.03032	CGA		0.617	NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056256.1	NM_022567		11	5	0	0	0	1	0	11	5				
SLITRK2	84631	broad.mit.edu	37	X	144905190	144905190	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chrX:144905190A>G	ENST00000370490.1	+	1	5502	c.1247A>G	c.(1246-1248)gAa>gGa	p.E416G	SLITRK2_ENST00000434188.2_Missense_Mutation_p.E416G|SLITRK2_ENST00000447897.2_Missense_Mutation_p.E416G|SLITRK2_ENST00000428560.2_Missense_Mutation_p.E416G|SLITRK2_ENST00000413937.2_Missense_Mutation_p.E416G			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	416					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GTCATTCAGGAAGGTGCCTTT	0.413																																						ENST00000370490.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(1246-1248)gAa>gGa		SLIT and NTRK-like family, member 2							119.0	116.0	117.0					X																	144905190		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144905190A>G	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1247A>G	X.37:g.144905190A>G	ENSP00000359521:p.Glu416Gly		Somatic				SLITRK2_ENST00000428560.2_Missense_Mutation_p.E416G|SLITRK2_ENST00000434188.2_Missense_Mutation_p.E416G|SLITRK2_ENST00000447897.2_Missense_Mutation_p.E416G|SLITRK2_ENST00000413937.2_Missense_Mutation_p.E416G	p.E416G			WXS	Illumina GAIIx	Phase_I	Q9H156	SLIK2_HUMAN			1	5502	+	Acute lymphoblastic leukemia(192;6.56e-05)		416					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.1247A>G	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	A	16.13	3.036200	0.54896	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34;0.34	5.49	5.49	0.81192	.	0.052847	0.85682	D	0.000000	T	0.44746	0.1308	N	0.26162	0.8	0.58432	D	0.999997	P	0.37207	0.587	B	0.43445	0.42	T	0.33701	-0.9858	10	0.22706	T	0.39	-8.4839	12.3654	0.55226	1.0:0.0:0.0:0.0	.	416	Q9H156	SLIK2_HUMAN	G	416	ENSP00000334374:E416G;ENSP00000411681:E416G;ENSP00000359521:E416G;ENSP00000397015:E416G;ENSP00000407347:E416G;ENSP00000412010:E416G	ENSP00000334374:E416G	E	+	2	0	SLITRK2	144712882	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.461000	0.80834	1.825000	0.53177	0.481000	0.45027	GAA		0.413	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		5	95	0	0	0	1	0	5	95				
SLC30A9	10463	broad.mit.edu	37	4	42022431	42022431	+	Splice_Site	SNP	A	A	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr4:42022431A>T	ENST00000264451.7	+	4	514		c.e4-1			NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9						nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTTTTTGTTTAGTTAAAGCAG	0.348																																						ENST00000264451.6																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.e4-1		solute carrier family 30 (zinc transporter), member 9							126.0	115.0	119.0					4																	42022431		2203	4299	6502	SO:0001630	splice_region_variant	10463				nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	g.chr4:42022431A>T	AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"""Solute carriers"""	1329	protein-coding gene	gene with protein product	"""GRIP1-dependent nuclear receptor coactivator"""	604604	"""chromosome 4 open reading frame 1"""	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.335-1A>T	4.37:g.42022431A>T			Somatic						NM_006345.3	NP_006336.3	WXS	Illumina GAIIx	Phase_I	Q6PML9	ZNT9_HUMAN			4	514	+								Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Splice_Site	SNP	ENST00000264451.7	37		CCDS3465.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.592832	0.86953	.	.	ENSG00000014824	ENST00000264451	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4116	0.83717	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC30A9	41717188	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.788000	0.91834	2.276000	0.75962	0.528000	0.53228	.		0.348	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3		Intron	5	137	0	0	0	1	0	5	137				
MS4A7	58475	broad.mit.edu	37	11	60150630	60150630	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:60150630C>A	ENST00000300184.3	+	2	212	c.16C>A	c.(16-18)Caa>Aaa	p.Q6K	MS4A7_ENST00000530234.2_Missense_Mutation_p.Q6K|MS4A7_ENST00000534016.1_Missense_Mutation_p.Q6K|MS4A7_ENST00000358246.1_Missense_Mutation_p.Q6K|MS4A14_ENST00000531787.1_Intron	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	6						integral component of membrane (GO:0016021)		p.Q6K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						ATTACAATCCCAAACCATGGG	0.443																																						ENST00000358246.1																			1	Substitution - Missense(1)	p.Q6K(1)	kidney(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						c.(16-18)Caa>Aaa		membrane-spanning 4-domains, subfamily A, member 7							115.0	106.0	109.0					11																	60150630		2203	4300	6503	SO:0001583	missense	58475					integral to membrane	receptor activity	g.chr11:60150630C>A	AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.16C>A	11.37:g.60150630C>A	ENSP00000300184:p.Gln6Lys		Somatic				MS4A7_ENST00000300184.3_Missense_Mutation_p.Q6K|MS4A7_ENST00000534016.1_Missense_Mutation_p.Q6K|MS4A7_ENST00000530234.2_Missense_Mutation_p.Q6K|MS4A14_ENST00000531787.1_Intron	p.Q6K	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	WXS	Illumina GAIIx	Phase_I	Q9GZW8	MS4A7_HUMAN			2	209	+			6					A6NP53|Q6IAG8	Missense_Mutation	SNP	ENST00000300184.3	37	c.16C>A	CCDS7985.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.566732	0.00895	.	.	ENSG00000166927	ENST00000300184;ENST00000358246;ENST00000534016;ENST00000530614;ENST00000530027;ENST00000530234	T;T;T;T;T;T	0.40756	3.33;2.64;2.64;2.64;2.84;1.02	3.8	-3.09	0.05331	.	2.227280	0.02170	N	0.059615	T	0.22126	0.0533	N	0.13098	0.295	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.32348	-0.9910	10	0.02654	T	1	-19.7843	8.3658	0.32385	0.2493:0.6473:0.1034:0.0	.	6;6;6	E9PIV6;Q9GZW8-2;Q9GZW8	.;.;MS4A7_HUMAN	K	6	ENSP00000300184:Q6K;ENSP00000350983:Q6K;ENSP00000434637:Q6K;ENSP00000433861:Q6K;ENSP00000434819:Q6K;ENSP00000433184:Q6K	ENSP00000300184:Q6K	Q	+	1	0	MS4A7	59907206	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.139000	0.10358	-0.619000	0.05648	-1.014000	0.02459	CAA		0.443	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1			80	193	1	0	8.06533e-24	1	9.44402e-24	80	193				
CACNA1E	777	broad.mit.edu	37	1	181453021	181453021	+	Silent	SNP	G	G	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:181453021G>A	ENST00000367573.2	+	1	141	c.141G>A	c.(139-141)gcG>gcA	p.A47A	CACNA1E_ENST00000358338.5_5'UTR|CACNA1E_ENST00000526775.1_Silent_p.A47A|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Silent_p.A47A|CACNA1E_ENST00000360108.3_Silent_p.A47A|CACNA1E_ENST00000357570.5_5'UTR	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	47					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CACAGAGGGCGCGGACTATGG	0.592																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(139-141)gcG>gcA		calcium channel, voltage-dependent, R type, alpha 1E subunit							76.0	85.0	82.0					1																	181453021		1915	4104	6019	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181453021G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.141G>A	1.37:g.181453021G>A			Somatic				CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367573.2_Silent_p.A47A|CACNA1E_ENST00000367570.1_Silent_p.A47A|CACNA1E_ENST00000357570.5_5'UTR|CACNA1E_ENST00000358338.5_5'UTR|CACNA1E_ENST00000360108.3_Silent_p.A47A	p.A47A	NM_001205294.1	NP_001192223.1	WXS	Illumina GAIIx	Phase_I	Q15878	CAC1E_HUMAN			1	306	+			47					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.141G>A	CCDS55664.1																																																																																				0.592	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		4	156	0	0	0	1	0	4	156				
MYCBP2	23077	broad.mit.edu	37	13	77835374	77835374	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr13:77835374A>T	ENST00000544440.2	-	12	1687	c.1670T>A	c.(1669-1671)cTt>cAt	p.L557H	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.L595H|MYCBP2_ENST00000357337.6_Missense_Mutation_p.L557H					MYC binding protein 2, E3 ubiquitin protein ligase									p.L557H(2)|p.L595H(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGCAACTAAAAGGGCGTGAGA	0.403																																						ENST00000407578.2																			3	Substitution - Missense(3)	p.L557H(2)|p.L595H(1)	kidney(3)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(1783-1785)cTt>cAt		MYC binding protein 2, E3 ubiquitin protein ligase							133.0	121.0	125.0					13																	77835374		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77835374A>T	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.1670T>A	13.37:g.77835374A>T	ENSP00000444596:p.Leu557His		Somatic				MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.L557H|MYCBP2_ENST00000544440.2_Missense_Mutation_p.L557H	p.L595H	NM_015057.4	NP_055872.4	WXS	Illumina GAIIx	Phase_I	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	12	2050	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	557						Missense_Mutation	SNP	ENST00000544440.2	37	c.1784T>A		.	.	.	.	.	.	.	.	.	.	A	24.3	4.511846	0.85389	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	D;D;D	0.82803	-1.65;-1.65;-1.65	5.62	5.62	0.85841	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.64402	D	0.000004	D	0.89061	0.6608	L	0.55481	1.735	0.58432	D	0.999995	D	0.76494	0.999	D	0.77557	0.99	D	0.90126	0.4203	10	0.87932	D	0	.	15.8183	0.78621	1.0:0.0:0.0:0.0	.	557	O75592	MYCB2_HUMAN	H	557;595;557	ENSP00000349892:L557H;ENSP00000384288:L595H;ENSP00000444596:L557H	ENSP00000349892:L557H	L	-	2	0	MYCBP2	76733375	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.228000	0.95250	2.143000	0.66587	0.477000	0.44152	CTT		0.403	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		30	127	0	0	0	1	0	30	127				
CPNE7	27132	broad.mit.edu	37	16	89657453	89657453	+	Missense_Mutation	SNP	C	C	A	rs376054672		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr16:89657453C>A	ENST00000268720.5	+	14	1510	c.1380C>A	c.(1378-1380)gaC>gaA	p.D460E	CPNE7_ENST00000319518.8_Missense_Mutation_p.D385E	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	460	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)	p.D460E(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		ACCCTGAGGACGATGAGTGTG	0.637																																						ENST00000268720.5																			1	Substitution - Missense(1)	p.D460E(1)	kidney(1)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17						c.(1378-1380)gaC>gaA		copine VII							76.0	71.0	73.0					16																	89657453		2198	4299	6497	SO:0001583	missense	27132				lipid metabolic process		transporter activity	g.chr16:89657453C>A	AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.1380C>A	16.37:g.89657453C>A	ENSP00000268720:p.Asp460Glu		Somatic				CPNE7_ENST00000319518.8_Missense_Mutation_p.D385E	p.D460E	NM_014427.4	NP_055242.1	WXS	Illumina GAIIx	Phase_I	Q9UBL6	CPNE7_HUMAN		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)	14	1510	+		all_hematologic(23;0.0748)	460			VWFA.			Missense_Mutation	SNP	ENST00000268720.5	37	c.1380C>A	CCDS10980.1	.	.	.	.	.	.	.	.	.	.	C	6.456	0.452228	0.12283	.	.	ENSG00000178773	ENST00000319518;ENST00000268720;ENST00000529800	T;T;T	0.21543	2.0;2.0;2.0	3.77	-2.35	0.06684	von Willebrand factor, type A (2);Copine (1);	0.116551	0.56097	D	0.000029	T	0.21631	0.0521	L	0.39514	1.22	0.28976	N	0.888921	P;P	0.51057	0.62;0.941	B;P	0.50405	0.313;0.64	T	0.16305	-1.0407	10	0.87932	D	0	-11.0324	10.8467	0.46746	0.0:0.5019:0.0:0.4981	.	385;460	Q9UBL6-2;Q9UBL6	.;CPNE7_HUMAN	E	385;460;105	ENSP00000317374:D385E;ENSP00000268720:D460E;ENSP00000435876:D105E	ENSP00000268720:D460E	D	+	3	2	CPNE7	88184954	0.079000	0.21365	0.213000	0.23690	0.105000	0.19272	-0.741000	0.04855	-0.814000	0.04352	-1.634000	0.00779	GAC		0.637	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2			3	10	1	0	0.115264	1	0.117845	3	10				
JAG1	182	broad.mit.edu	37	20	10620283	10620283	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr20:10620283G>T	ENST00000254958.5	-	26	4035	c.3520C>A	c.(3520-3522)Ccg>Acg	p.P1174T	JAG1_ENST00000423891.2_Missense_Mutation_p.P1015T	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1174					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GTGTACGCCGGCTGCTTGGCA	0.493									Alagille Syndrome																													ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(3520-3522)Ccg>Acg		jagged 1							182.0	180.0	181.0					20																	10620283		2203	4300	6503	SO:0001583	missense	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10620283G>T	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.3520C>A	20.37:g.10620283G>T	ENSP00000254958:p.Pro1174Thr		Somatic				JAG1_ENST00000423891.2_Missense_Mutation_p.P1015T	p.P1174T	NM_000214.2	NP_000205.1	WXS	Illumina GAIIx	Phase_I	P78504	JAG1_HUMAN			26	4035	-			1174					A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	ENST00000254958.5	37	c.3520C>A	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.836032	0.32421	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.85955	-2.03;-2.05	5.52	4.57	0.56435	.	0.049437	0.85682	D	0.000000	T	0.77805	0.4185	L	0.29908	0.895	0.58432	D	0.999999	P	0.34800	0.469	B	0.30646	0.118	T	0.78932	-0.2009	10	0.62326	D	0.03	.	15.6965	0.77502	0.0:0.2707:0.7293:0.0	.	1174	P78504	JAG1_HUMAN	T	1174;1015	ENSP00000254958:P1174T;ENSP00000389519:P1015T	ENSP00000254958:P1174T	P	-	1	0	JAG1	10568283	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	6.238000	0.72350	1.459000	0.47892	0.563000	0.77884	CCG		0.493	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		4	176	1	0	0.184627	1	0.187363	4	176				
NETO1	81832	broad.mit.edu	37	18	70417575	70417575	+	Silent	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr18:70417575C>T	ENST00000327305.6	-	9	1920	c.1263G>A	c.(1261-1263)cgG>cgA	p.R421R	NETO1_ENST00000299430.2_Silent_p.R420R|RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000583169.1_Silent_p.R421R	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	421					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.R421R(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AAGATGACCTCCGCAGTTTAT	0.463																																						ENST00000327305.6																			1	Substitution - coding silent(1)	p.R421R(1)	kidney(1)	NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(1261-1263)cgG>cgA		neuropilin (NRP) and tolloid (TLL)-like 1							105.0	95.0	98.0					18																	70417575		2203	4300	6503	SO:0001819	synonymous_variant	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70417575C>T	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1263G>A	18.37:g.70417575C>T			Somatic				NETO1_ENST00000299430.2_Silent_p.R420R|NETO1_ENST00000583169.1_Silent_p.R421R	p.R421R	NM_138966.3	NP_620416.1	WXS	Illumina GAIIx	Phase_I	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	9	1920	-		Esophageal squamous(42;0.129)	421					Q86W85|Q8ND78|Q8TDF4	Silent	SNP	ENST00000327305.6	37	c.1263G>A	CCDS12000.1																																																																																				0.463	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		41	44	0	0	0	1	0	41	44				
NREP	9315	broad.mit.edu	37	5	111091557	111091557	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:111091557C>T	ENST00000508870.1	-	0	192				NREP_ENST00000395634.3_Intron|NREP_ENST00000509979.1_Intron|NREP_ENST00000507742.1_Intron|NREP_ENST00000379671.3_Intron|NREP_ENST00000419114.2_Intron|NREP_ENST00000447165.2_De_novo_Start_OutOfFrame|NREP_ENST00000509025.1_Intron|NREP_ENST00000515855.1_Intron|NREP_ENST00000257435.7_Intron|NREP_ENST00000446294.2_Intron|NREP_ENST00000450761.2_Intron|NREP_ENST00000509427.1_Intron|NREP_ENST00000455559.2_Intron|NREP_ENST00000453526.2_Intron			Q16612	NREP_HUMAN	neuronal regeneration related protein						axon regeneration (GO:0031103)|regulation of neuron differentiation (GO:0045664)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											ACAGTAGACACATCGCCTCAC	0.393																																						ENST00000447165.2																			0													neuronal regeneration related protein							93.0	79.0	83.0					5																	111091557		692	1591	2283			9315					cytoplasm		g.chr5:111091557C>T	AF119859	CCDS4105.1, CCDS47255.1	5q22.1	2012-12-07	2012-12-07	2012-01-23	ENSG00000134986	ENSG00000134986			16834	protein-coding gene	gene with protein product	"""neuronal protein 3.1"""	607332	"""chromosome 5 open reading frame 13"", ""neuronal regeneration related protein homolog (rat)"""	C5orf13		8261136, 10981724, 15485502	Standard	NM_004772		Approved	P311, D4S114, PRO1873, PTZ17, SEZ17	uc011cvr.2	Q16612	OTTHUMG00000128795	ENST00000508870.1:c.-88G>A	5.37:g.111091557C>T			Somatic				NREP_ENST00000453526.2_Intron|NREP_ENST00000446294.2_Intron|NREP_ENST00000509979.1_Intron|NREP_ENST00000419114.2_Intron|NREP_ENST00000257435.7_Intron|NREP_ENST00000455559.2_Intron|NREP_ENST00000508870.1_De_novo_Start_OutOfFrame|NREP_ENST00000379671.3_Intron|NREP_ENST00000509427.1_Intron|NREP_ENST00000507742.1_Intron|NREP_ENST00000450761.2_Intron|NREP_ENST00000509025.1_Intron|NREP_ENST00000515855.1_Intron|NREP_ENST00000395634.3_Intron		NM_001142483.1	NP_001135955.1	WXS	Illumina GAIIx	Phase_I	Q16612	NP311_HUMAN			0	391	-								B2RDN8|B7Z5D2|D3DSZ8	Translation_Start_Site	SNP	ENST00000508870.1	37		CCDS4105.1																																																																																				0.393	NREP-017	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370896.1	NM_004772		3	48	0	0	0	1	0	3	48				
IGHV1-69	28461	broad.mit.edu	37	14	107170012	107170012	+	RNA	SNP	G	G	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr14:107170012G>A	ENST00000390633.2	-	0	330									immunoglobulin heavy variable 1-69																		ATTTGTCCGCGGTAATCGTGA	0.547																																						ENST00000390633.2																			0																				307.0	251.0	270.0					14																	107170012		2097	4202	6299			28461							g.chr14:107170012G>A	L22582		14q32.33	2012-02-10			ENSG00000211973	ENSG00000211973		"""Immunoglobulins / IGH locus"""	5558	other	immunoglobulin gene				IGHV1-E		8469934	Standard	NG_001019		Approved				OTTHUMG00000151862		14.37:g.107170012G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	330	-									RNA	SNP	ENST00000390633.2	37																																																																																						0.547	IGHV1-69-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324207.1	NG_001019		4	462	0	0	0	1	0	4	462				
ANO6	196527	broad.mit.edu	37	12	45810629	45810629	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:45810629A>G	ENST00000320560.8	+	17	2361	c.2159A>G	c.(2158-2160)gAc>gGc	p.D720G	ANO6_ENST00000435642.1_Missense_Mutation_p.D720G|ANO6_ENST00000425752.2_Missense_Mutation_p.D720G|ANO6_ENST00000423947.3_Missense_Mutation_p.D741G|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000441606.2_Missense_Mutation_p.D702G	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	720					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)	p.D720G(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AAAGCCCAAGACATTGGAGCA	0.478																																						ENST00000320560.8																			2	Substitution - Missense(2)	p.D720G(2)	kidney(2)	central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(2158-2160)gAc>gGc		anoctamin 6							91.0	80.0	84.0					12																	45810629		2203	4300	6503	SO:0001583	missense	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45810629A>G	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.2159A>G	12.37:g.45810629A>G	ENSP00000320087:p.Asp720Gly		Somatic				ANO6_ENST00000425752.2_Missense_Mutation_p.D720G|ANO6_ENST00000423947.3_Missense_Mutation_p.D741G|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Missense_Mutation_p.D720G|ANO6_ENST00000441606.2_Missense_Mutation_p.D702G	p.D720G	NM_001025356.2	NP_001020527.2	WXS	Illumina GAIIx	Phase_I	Q4KMQ2	ANO6_HUMAN			17	2361	+			720					A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	c.2159A>G	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.753325	0.49362	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.72	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.60971	0.2310	M	0.69248	2.105	0.58432	D	0.999994	B;B;B;P	0.35155	0.009;0.02;0.033;0.487	B;B;B;B	0.38985	0.02;0.06;0.033;0.287	T	0.61831	-0.6982	10	0.38643	T	0.18	.	10.6319	0.45541	0.8748:0.0:0.1252:0.0	.	702;741;720;720	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	G	720;741;720;720;702	ENSP00000391417:D720G;ENSP00000409126:D741G;ENSP00000413840:D720G;ENSP00000320087:D720G;ENSP00000413137:D702G	ENSP00000320087:D720G	D	+	2	0	ANO6	44096896	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	4.539000	0.60657	2.320000	0.78422	0.528000	0.53228	GAC		0.478	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		51	96	0	0	0	1	0	51	96				
RORA	6095	broad.mit.edu	37	15	60789779	60789779	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr15:60789779G>A	ENST00000335670.6	-	11	1547	c.1447C>T	c.(1447-1449)Cga>Tga	p.R483*	RP11-219B17.1_ENST00000501579.2_RNA|RORA_ENST00000449337.2_Nonsense_Mutation_p.R428*|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000261523.5_Nonsense_Mutation_p.R516*|RORA_ENST00000309157.4_Nonsense_Mutation_p.R508*|RP11-219B17.1_ENST00000558235.1_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	483	Ligand-binding.				angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R483*(1)|p.R516*(1)|p.R508*(1)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						TCTGTATGTCGTCCACATAAG	0.398																																						ENST00000335670.6																			3	Substitution - Nonsense(3)	p.R483*(1)|p.R516*(1)|p.R508*(1)	kidney(3)	endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1447-1449)Cga>Tga		RAR-related orphan receptor A							166.0	142.0	151.0					15																	60789779		2203	4300	6503	SO:0001587	stop_gained	6095				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr15:60789779G>A	U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"""Nuclear hormone receptors"""	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.1447C>T	15.37:g.60789779G>A	ENSP00000335087:p.Arg483*		Somatic				RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000501579.2_RNA|RORA_ENST00000449337.2_Nonsense_Mutation_p.R428*|RORA_ENST00000309157.4_Nonsense_Mutation_p.R508*|RORA_ENST00000261523.5_Nonsense_Mutation_p.R516*	p.R483*	NM_134261.2	NP_599023.1	WXS	Illumina GAIIx	Phase_I	P35398	RORA_HUMAN			11	1547	-			516			Ligand-binding.		P35397|P35399|P45445|Q495X4|Q96H83	Nonsense_Mutation	SNP	ENST00000335670.6	37	c.1447C>T	CCDS10177.1	.	.	.	.	.	.	.	.	.	.	G	36	5.802127	0.96960	.	.	ENSG00000069667	ENST00000335670;ENST00000449337;ENST00000309157;ENST00000261523	.	.	.	5.96	5.96	0.96718	.	0.058151	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	20.4008	0.98991	0.0:0.0:1.0:0.0	.	.	.	.	X	483;428;508;516	.	ENSP00000261523:R516X	R	-	1	2	RORA	58577071	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.773000	0.68898	2.826000	0.97356	0.655000	0.94253	CGA		0.398	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2			12	92	0	0	0	1	0	12	92				
LRFN5	145581	broad.mit.edu	37	14	42356025	42356025	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr14:42356025T>G	ENST00000298119.4	+	3	1386	c.197T>G	c.(196-198)aTt>aGt	p.I66S	LRFN5_ENST00000554171.1_Missense_Mutation_p.I66S|LRFN5_ENST00000554120.1_Missense_Mutation_p.I66S	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	66						integral component of membrane (GO:0016021)		p.I66S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GTTACAAATATTAAAAGGAAA	0.403										HNSCC(30;0.082)																												ENST00000554171.1																			1	Substitution - Missense(1)	p.I66S(1)	kidney(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(196-198)aTt>aGt		leucine rich repeat and fibronectin type III domain containing 5							50.0	48.0	49.0					14																	42356025		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356025T>G	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.197T>G	14.37:g.42356025T>G	ENSP00000298119:p.Ile66Ser	HNSCC(30;0.082)	Somatic				LRFN5_ENST00000298119.4_Missense_Mutation_p.I66S|LRFN5_ENST00000554120.1_Missense_Mutation_p.I66S	p.I66S			WXS	Illumina GAIIx	Phase_I	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	5	2629	+			66					B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.197T>G	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	T	16.45	3.128083	0.56721	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	D;D;D	0.96011	-3.88;-3.88;-3.88	5.56	5.56	0.83823	.	0.000000	0.56097	D	0.000023	D	0.98235	0.9416	H	0.96518	3.835	0.53688	D	0.999976	P;D	0.57257	0.908;0.979	P;P	0.62740	0.791;0.906	D	0.99301	1.0901	10	0.87932	D	0	.	13.6661	0.62396	0.0:0.0:0.0:1.0	.	66;66	G3V364;Q96NI6	.;LRFN5_HUMAN	S	66	ENSP00000298119:I66S;ENSP00000451897:I66S;ENSP00000451067:I66S	ENSP00000298119:I66S	I	+	2	0	LRFN5	41425775	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.098000	0.63641	0.528000	0.53228	ATT		0.403	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		5	32	0	0	0	1	0	5	32				
PCNXL2	80003	broad.mit.edu	37	1	233386509	233386509	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:233386509T>C	ENST00000258229.9	-	8	2432	c.2198A>G	c.(2197-2199)aAt>aGt	p.N733S	PCNXL2_ENST00000430153.1_Missense_Mutation_p.N32S	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	733						integral component of membrane (GO:0016021)		p.N733S(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACAGTCATTATTTGATGGTAG	0.413																																						ENST00000258229.8																			1	Substitution - Missense(1)	p.N733S(1)	kidney(1)	NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(2197-2199)aAt>aGt		pecanex-like 2 (Drosophila)							68.0	68.0	68.0					1																	233386509		1888	4103	5991	SO:0001583	missense	80003					integral to membrane		g.chr1:233386509T>C	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.2198A>G	1.37:g.233386509T>C	ENSP00000258229:p.Asn733Ser		Somatic				PCNXL2_ENST00000430153.1_Missense_Mutation_p.N32S	p.N733S	NM_014801.3	NP_055616.3	WXS	Illumina GAIIx	Phase_I	A6NKB5	PCX2_HUMAN			8	2432	-		all_cancers(173;0.0347)|Prostate(94;0.137)	733					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.2198A>G	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	T	11.48	1.651930	0.29336	.	.	ENSG00000135749	ENST00000258229;ENST00000430153	T;T	0.32988	1.43;1.43	5.74	2.25	0.28309	.	0.000000	0.36972	U	0.002316	T	0.15435	0.0372	L	0.27053	0.805	0.09310	N	1	B;B	0.16802	0.019;0.008	B;B	0.14023	0.01;0.003	T	0.33854	-0.9852	10	0.02654	T	1	.	7.9015	0.29738	0.0:0.2252:0.0:0.7748	.	32;733	A6NKB5-2;A6NKB5	.;PCX2_HUMAN	S	733;32	ENSP00000258229:N733S;ENSP00000394703:N32S	ENSP00000258229:N733S	N	-	2	0	PCNXL2	231453132	0.107000	0.21998	0.007000	0.13788	0.004000	0.04260	1.584000	0.36589	0.461000	0.27071	0.459000	0.35465	AAT		0.413	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		7	16	0	0	0	1	0	7	16				
SAMD14	201191	broad.mit.edu	37	17	48195543	48195543	+	Silent	SNP	C	C	T	rs538760933		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:48195543C>T	ENST00000330175.4	-	3	509	c.192G>A	c.(190-192)tcG>tcA	p.S64S	SAMD14_ENST00000503734.1_5'UTR|SAMD14_ENST00000503131.1_Silent_p.S64S	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	64								p.S64S(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						CGGGCCCATCCGAGCCTTCAC	0.637																																						ENST00000330175.4																			1	Substitution - coding silent(1)	p.S64S(1)	kidney(1)	breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						c.(190-192)tcG>tcA		sterile alpha motif domain containing 14							49.0	52.0	51.0					17																	48195543		2203	4300	6503	SO:0001819	synonymous_variant	201191							g.chr17:48195543C>T		CCDS11560.1, CCDS58562.1	17q21.33	2013-01-10				ENSG00000167100		"""Sterile alpha motif (SAM) domain containing"""	27312	protein-coding gene	gene with protein product						8619474	Standard	NM_174920		Approved	FLJ36890	uc002iqg.4	Q8IZD0		ENST00000330175.4:c.192G>A	17.37:g.48195543C>T			Somatic				SAMD14_ENST00000503131.1_Silent_p.S64S|SAMD14_ENST00000503734.1_5'UTR	p.S64S	NM_001257359.1	NP_001244288.1	WXS	Illumina GAIIx	Phase_I	Q8IZD0	SAM14_HUMAN			3	509	-			64					A5D8V1|Q8N2X0	Silent	SNP	ENST00000330175.4	37	c.192G>A	CCDS58562.1																																																																																				0.637	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366661.1	NM_174920		27	66	0	0	0	1	0	27	66				
WDR35	57539	broad.mit.edu	37	2	20162080	20162080	+	Silent	SNP	G	G	A	rs142103808		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:20162080G>A	ENST00000345530.3	-	11	1318	c.1203C>T	c.(1201-1203)aaC>aaT	p.N401N	WDR35_ENST00000281405.4_Intron|WDR35_ENST00000416055.2_Intron	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	401					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)		p.N401N(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCCATCTCGTTCTCCTCCT	0.333													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17184	0.0		0.0	False		,,,				2504	0.0					ENST00000345530.3																			1	Substitution - coding silent(1)	p.N401N(1)	kidney(1)	breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(1201-1203)aaC>aaT		WD repeat domain 35		G	,	1,4405	2.1+/-5.4	0,1,2202	125.0	120.0	122.0		1203,	-0.5	1.0	2	dbSNP_134	122	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron	WDR35	NM_001006657.1,NM_020779.3	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	401/1182,	20162080	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57539							g.chr2:20162080G>A	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.1203C>T	2.37:g.20162080G>A			Somatic				WDR35_ENST00000281405.4_Intron|WDR35_ENST00000416055.2_Intron	p.N401N	NM_001006657.1	NP_001006658.1	WXS	Illumina GAIIx	Phase_I	Q9P2L0	WDR35_HUMAN			11	1318	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		401					B3KVI5|Q4ZG01|Q8NE11	Silent	SNP	ENST00000345530.3	37	c.1203C>T	CCDS33152.1																																																																																				0.333	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		26	107	0	0	0	1	0	26	107				
ATP12A	479	broad.mit.edu	37	13	25272913	25272913	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr13:25272913C>T	ENST00000381946.3	+	12	1797	c.1630C>T	c.(1630-1632)Cca>Tca	p.P544S	ATP12A_ENST00000218548.6_Missense_Mutation_p.P550S			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	544					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.P544S(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CGAGGAGCACCCACTGGACAA	0.637																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			1	Substitution - Missense(1)	p.P544S(1)	kidney(1)	breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(1648-1650)Cca>Tca		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						131.0	121.0	124.0					13																	25272913		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25272913C>T	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1630C>T	13.37:g.25272913C>T	ENSP00000371372:p.Pro544Ser		Somatic				ATP12A_ENST00000381946.3_Missense_Mutation_p.P544S	p.P550S	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	WXS	Illumina GAIIx	Phase_I	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	12	1981	+		Lung SC(185;0.0225)|Breast(139;0.077)	544					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.1648C>T	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548984	0.45383	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	T;T	0.81163	-1.46;-1.46	6.08	3.44	0.39384	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.070980	0.64402	D	0.000014	T	0.80675	0.4668	L	0.47190	1.495	0.49299	D	0.999773	P;D	0.53462	0.855;0.96	P;P	0.55112	0.596;0.769	T	0.78147	-0.2317	10	0.56958	D	0.05	.	7.8642	0.29528	0.0:0.7194:0.1339:0.1466	.	550;544	P54707-2;P54707	.;AT12A_HUMAN	S	550;544	ENSP00000218548:P550S;ENSP00000371372:P544S	ENSP00000218548:P550S	P	+	1	0	ATP12A	24170913	1.000000	0.71417	0.978000	0.43139	0.016000	0.09150	4.892000	0.63193	0.458000	0.26988	0.655000	0.94253	CCA		0.637	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		25	109	0	0	0	1	0	25	109				
METTL5	29081	broad.mit.edu	37	2	170668861	170668861	+	Intron	SNP	T	T	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:170668861T>C	ENST00000260953.5	-	6	908				METTL5_ENST00000409965.1_Intron|METTL5_ENST00000409340.1_Intron|METTL5_ENST00000409837.1_Intron|METTL5_ENST00000308099.3_Intron|METTL5_ENST00000392640.2_Intron|METTL5_ENST00000410097.1_Missense_Mutation_p.R233G	NM_014168.2	NP_054887.2	Q9NRN9	METL5_HUMAN	methyltransferase like 5								methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						agcgattctcttgcctcagcc	0.517																																						ENST00000410097.1																			0				breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						c.(697-699)Aga>Gga		methyltransferase like 5																																				SO:0001627	intron_variant	29081						methyltransferase activity|nucleic acid binding	g.chr2:170668861T>C	AF201938	CCDS33320.1	2q31.1	2011-01-28			ENSG00000138382	ENSG00000138382			25006	protein-coding gene	gene with protein product						11042152	Standard	XM_005246478		Approved	HSPC133	uc002ufn.3	Q9NRN9	OTTHUMG00000154117	ENST00000260953.5:c.591+105A>G	2.37:g.170668861T>C			Somatic				METTL5_ENST00000260953.5_Intron|METTL5_ENST00000409965.1_Intron|METTL5_ENST00000409837.1_Intron|METTL5_ENST00000409340.1_Intron|METTL5_ENST00000308099.3_Intron|METTL5_ENST00000392640.2_Intron	p.R233G			WXS	Illumina GAIIx	Phase_I	Q9NRN9	METL5_HUMAN			7	832	-			0					D3DPC9|Q9NVX1	Missense_Mutation	SNP	ENST00000260953.5	37	c.697A>G	CCDS33320.1	.	.	.	.	.	.	.	.	.	.	T	3.063	-0.192793	0.06259	.	.	ENSG00000138382	ENST00000410097	.	.	.	0.744	-0.657	0.11432	.	.	.	.	.	T	0.27594	0.0678	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22977	-1.0201	6	0.59425	D	0.04	.	.	.	.	.	233	B8ZZC8	.	G	233	.	ENSP00000387056:R233G	R	-	1	2	METTL5	170377107	0.000000	0.05858	0.006000	0.13384	0.020000	0.10135	-0.009000	0.12765	-0.288000	0.09051	-0.736000	0.03550	AGA		0.517	METTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333957.1	NM_014168		3	60	0	0	0	1	0	3	60				
SLC35G3	146861	broad.mit.edu	37	17	33520557	33520557	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:33520557C>T	ENST00000297307.5	-	1	855	c.770G>A	c.(769-771)gGg>gAg	p.G257E	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	257						integral component of membrane (GO:0016021)		p.G257E(1)									CCCCACTGCCCCCACACAACT	0.627																																						ENST00000297307.5																			1	Substitution - Missense(1)	p.G257E(1)	kidney(1)								c.(769-771)gGg>gAg		solute carrier family 35, member G3							105.0	98.0	100.0					17																	33520557		2203	4297	6500	SO:0001583	missense	146861					integral to membrane		g.chr17:33520557C>T	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.770G>A	17.37:g.33520557C>T	ENSP00000297307:p.Gly257Glu		Somatic					p.G257E	NM_152462.2	NP_689675.1	WXS	Illumina GAIIx	Phase_I	Q8N808	AMAC1_HUMAN			1	855	-			257					B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.770G>A	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	7.208	0.594862	0.13875	.	.	ENSG00000164729	ENST00000297307	T	0.52295	0.67	.	.	.	.	0.628981	0.13032	N	0.419232	T	0.34193	0.0889	L	0.36672	1.1	0.27336	N	0.956641	B	0.27910	0.193	B	0.30029	0.11	T	0.29212	-1.0019	9	0.54805	T	0.06	-0.3551	5.844	0.18652	0.0:0.9991:0.0:9.0E-4	.	257	Q8N808	S35G3_HUMAN	E	257	ENSP00000297307:G257E	ENSP00000297307:G257E	G	-	2	0	SLC35G3	30544670	0.000000	0.05858	0.307000	0.25127	0.308000	0.27856	0.174000	0.16743	0.064000	0.16427	0.064000	0.15345	GGG		0.627	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		48	80	0	0	0	1	0	48	80				
SKA1	220134	broad.mit.edu	37	18	47906545	47906545	+	Silent	SNP	C	C	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr18:47906545C>A	ENST00000285116.3	+	3	349	c.138C>A	c.(136-138)atC>atA	p.I46I	SKA1_ENST00000417656.2_Silent_p.I46I|SKA1_ENST00000488454.1_Intron|SKA1_ENST00000398452.2_Silent_p.I46I	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	46					cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)	p.I46I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						GAGATGAGATCATTGTAATAA	0.294																																						ENST00000285116.3																			1	Substitution - coding silent(1)	p.I46I(1)	kidney(1)	breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						c.(136-138)atC>atA		spindle and kinetochore associated complex subunit 1							51.0	60.0	57.0					18																	47906545		2196	4283	6479	SO:0001819	synonymous_variant	220134				cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding	g.chr18:47906545C>A	BC015706	CCDS11946.1	18q21.1	2013-01-17	2009-08-19	2009-08-19	ENSG00000154839	ENSG00000154839			28109	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 24"""	C18orf24		17093495	Standard	NM_145060		Approved	MGC10200	uc002leu.3	Q96BD8	OTTHUMG00000132685	ENST00000285116.3:c.138C>A	18.37:g.47906545C>A			Somatic				SKA1_ENST00000398452.2_Silent_p.I46I|SKA1_ENST00000488454.1_Intron|SKA1_ENST00000417656.2_Silent_p.I46I	p.I46I	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	WXS	Illumina GAIIx	Phase_I	Q96BD8	SKA1_HUMAN			3	349	+			46					B2R9Y6|B4E0P4	Silent	SNP	ENST00000285116.3	37	c.138C>A	CCDS11946.1																																																																																				0.294	SKA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255982.2	NM_145060		37	53	1	0	6.70999e-13	1	7.66057e-13	37	53				
DNAJC18	202052	broad.mit.edu	37	5	138761998	138761998	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:138761998C>A	ENST00000302060.5	-	4	502	c.422G>T	c.(421-423)cGc>cTc	p.R141L		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	141	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTCATCATAGCGAAGTCTCTT	0.453																																						ENST00000302060.5																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13						c.(421-423)cGc>cTc		DnaJ (Hsp40) homolog, subfamily C, member 18							123.0	119.0	121.0					5																	138761998		2203	4300	6503	SO:0001583	missense	202052				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr5:138761998C>A	AK024054	CCDS4214.1	5q31.2	2011-09-02		2005-08-09	ENSG00000170464	ENSG00000170464		"""Heat shock proteins / DNAJ (HSP40)"""	28429	protein-coding gene	gene with protein product							Standard	NM_152686		Approved	MGC29463	uc003len.3	Q9H819	OTTHUMG00000129225	ENST00000302060.5:c.422G>T	5.37:g.138761998C>A	ENSP00000302843:p.Arg141Leu		Somatic					p.R141L	NM_152686.3	NP_689899.1	WXS	Illumina GAIIx	Phase_I	Q9H819	DJC18_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		4	502	-			141			J.			Missense_Mutation	SNP	ENST00000302060.5	37	c.422G>T	CCDS4214.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674308	0.67928	.	.	ENSG00000170464	ENST00000302060;ENST00000515581;ENST00000515277	T;T;T	0.29397	1.57;1.57;1.57	5.5	5.5	0.81552	Heat shock protein DnaJ, N-terminal (4);Heat shock protein DnaJ, conserved site (1);	0.056669	0.85682	D	0.000000	T	0.35566	0.0936	N	0.21240	0.645	0.58432	D	0.999992	D	0.61697	0.99	P	0.61800	0.894	T	0.04467	-1.0949	10	0.36615	T	0.2	-3.1653	11.4539	0.50169	0.0:0.9173:0.0:0.0827	.	141	Q9H819	DJC18_HUMAN	L	141	ENSP00000302843:R141L;ENSP00000424572:R141L;ENSP00000425523:R141L	ENSP00000302843:R141L	R	-	2	0	DNAJC18	138789897	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.108000	0.50337	2.581000	0.87130	0.563000	0.77884	CGC		0.453	DNAJC18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374191.1	NM_152686		5	260	1	0	1	1	1	5	260				
TNRC18	84629	broad.mit.edu	37	7	5391579	5391579	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr7:5391579C>A	ENST00000430969.1	-	17	5689	c.5341G>T	c.(5341-5343)Ggc>Tgc	p.G1781C	TNRC18_ENST00000399537.4_Missense_Mutation_p.G1781C	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1781							chromatin binding (GO:0003682)	p.R1780_G1781>SC(2)|p.G1781C(2)|p.G836C(1)|p.R835_G836>SC(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCCGCCAGGCCCCTCTTGGTC	0.647																																						ENST00000399537.4																			6	Substitution - Missense(3)|Complex - compound substitution(3)	p.R1780_G1781>SC(2)|p.G1781C(2)|p.G836C(1)|p.R835_G836>SC(1)	kidney(6)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(5341-5343)Ggc>Tgc		trinucleotide repeat containing 18							22.0	22.0	22.0					7																	5391579		1568	3582	5150	SO:0001583	missense	84629						DNA binding	g.chr7:5391579C>A	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.5341G>T	7.37:g.5391579C>A	ENSP00000395538:p.Gly1781Cys		Somatic				TNRC18_ENST00000430969.1_Missense_Mutation_p.G1781C	p.G1781C			WXS	Illumina GAIIx	Phase_I	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	17	5689	-		Ovarian(82;0.142)	1781					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.5341G>T	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	c	12.65	2.002501	0.35320	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544	T;T	0.12984	2.64;2.63	5.03	5.03	0.67393	.	0.000000	0.37219	N	0.002192	T	0.32315	0.0825	M	0.67953	2.075	0.32707	N	0.512065	D;D	0.76494	0.997;0.999	D;D	0.64042	0.912;0.921	T	0.40979	-0.9534	10	0.51188	T	0.08	.	13.6897	0.62537	0.0:0.9231:0.0:0.0769	.	836;1781	A8MSW5;O15417	.;TNC18_HUMAN	C	1781;1781;836	ENSP00000382452:G1781C;ENSP00000395538:G1781C	ENSP00000382452:G1781C	G	-	1	0	TNRC18	5358105	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.942000	0.40243	2.348000	0.79779	0.561000	0.74099	GGC		0.647	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				22	57	1	0	1.9806e-07	1	2.18824e-07	22	57				
PCDHGA11	56105	broad.mit.edu	37	5	140802703	140802703	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:140802703G>C	ENST00000398587.2	+	1	1942	c.1909G>C	c.(1909-1911)Gac>Cac	p.D637H	PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	637	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D637H(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGACAGAGACGCGCTCAA	0.697																																						ENST00000398587.2																			1	Substitution - Missense(1)	p.D637H(1)	kidney(1)	breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49						c.(1909-1911)Gac>Cac									44.0	53.0	50.0					5																	140802703		2203	4299	6502	SO:0001583	missense	56105							g.chr5:140802703G>C	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.1909G>C	5.37:g.140802703G>C	ENSP00000381589:p.Asp637His		Somatic				PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.D637H	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1942	+								B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	37	c.1909G>C	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	g	18.63	3.666111	0.67700	.	.	ENSG00000253873	ENST00000398587	T	0.52754	0.65	5.33	5.33	0.75918	Cadherin (4);Cadherin-like (1);	0.000000	0.29624	U	0.011638	T	0.71484	0.3345	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.991	T	0.75105	-0.3435	10	0.87932	D	0	.	19.0887	0.93217	0.0:0.0:1.0:0.0	.	637;637	Q9Y5H2;Q9Y5H2-2	PCDGB_HUMAN;.	H	637	ENSP00000381589:D637H	ENSP00000381589:D637H	D	+	1	0	PCDHGA11	140782887	1.000000	0.71417	0.994000	0.49952	0.708000	0.40852	6.654000	0.74387	2.520000	0.84964	0.556000	0.70494	GAC		0.697	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		7	33	0	0	0	1	0	7	33				
LRRC37A6P	387646	broad.mit.edu	37	10	27538014	27538014	+	lincRNA	SNP	G	G	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr10:27538014G>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TTCTAGTTCAGTAGGTGGACC	0.502																																						ENST00000574842.1																			0																				30.0	27.0	28.0					10																	27538014		692	1591	2283			387646							g.chr10:27538014G>T																													10.37:g.27538014G>T			Somatic				LRRC37A6P_ENST00000284414.4_RNA				WXS	Illumina GAIIx	Phase_I					0	255	+									RNA	SNP	ENST00000574842.1	37																																																																																						0.502	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1			56	109	1	0	4.17463e-26	1	4.93038e-26	56	109				
FUT6	2528	broad.mit.edu	37	19	5832203	5832203	+	Missense_Mutation	SNP	G	G	A	rs111589452	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr19:5832203G>A	ENST00000318336.4	-	3	1570	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	FUT6_ENST00000286955.5_Missense_Mutation_p.R126W|FUT6_ENST00000527106.1_Missense_Mutation_p.R126W|FUT6_ENST00000524754.1_Missense_Mutation_p.R126W|FUT6_ENST00000592563.1_Missense_Mutation_p.R126W	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	126					fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.R126W(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						TGCCCCTGCCGCCTCGGGGAG	0.617																																						ENST00000318336.4																			1	Substitution - Missense(1)	p.R126W(1)	kidney(1)	endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						c.(376-378)Cgg>Tgg		fucosyltransferase 6 (alpha (1,3) fucosyltransferase)							70.0	58.0	62.0					19																	5832203		2203	4300	6503	SO:0001583	missense	2528				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5832203G>A		CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"""Fucosyltransferases"""	4017	protein-coding gene	gene with protein product	"""alpha-(1,3)-fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.376C>T	19.37:g.5832203G>A	ENSP00000313398:p.Arg126Trp		Somatic				FUT6_ENST00000286955.5_Missense_Mutation_p.R126W|FUT6_ENST00000527106.1_Missense_Mutation_p.R126W|FUT6_ENST00000592563.1_Missense_Mutation_p.R126W|FUT6_ENST00000524754.1_Missense_Mutation_p.R126W	p.R126W	NM_000150.2	NP_000141.1	WXS	Illumina GAIIx	Phase_I	P51993	FUT6_HUMAN			3	1570	-			126					A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	ENST00000318336.4	37	c.376C>T	CCDS12152.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937106	0.73557	.	.	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955;ENST00000341530;ENST00000529165	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	3.09	3.09	0.35607	.	0.333138	0.24740	N	0.035984	T	0.25865	0.0630	L	0.42245	1.32	0.30040	N	0.812724	P;P	0.50272	0.933;0.844	P;P	0.45167	0.472;0.472	T	0.20371	-1.0277	10	0.87932	D	0	.	12.3817	0.55311	0.0:0.0:1.0:0.0	.	126;126	C9J8A2;P51993	.;FUT6_HUMAN	W	126	ENSP00000431708:R126W;ENSP00000432954:R126W;ENSP00000313398:R126W;ENSP00000286955:R126W;ENSP00000436547:R126W	ENSP00000286955:R126W	R	-	1	2	FUT6	5783203	1.000000	0.71417	0.029000	0.17559	0.001000	0.01503	6.454000	0.73493	1.666000	0.50821	0.436000	0.28706	CGG		0.617	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	NM_000150		4	41	0	0	0	1	0	4	41				
SMARCA1	6594	broad.mit.edu	37	X	128621065	128621065	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chrX:128621065C>A	ENST00000371122.4	-	17	2276	c.2147G>T	c.(2146-2148)aGa>aTa	p.R716I	SMARCA1_ENST00000371121.3_Missense_Mutation_p.R704I|SMARCA1_ENST00000371123.1_Missense_Mutation_p.R704I	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	716					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TCTAAAATTTCTTAGAGAAGA	0.323																																						ENST00000371122.4																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						c.(2146-2148)aGa>aTa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1							66.0	61.0	63.0					X																	128621065		2203	4300	6503	SO:0001583	missense	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128621065C>A	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.2147G>T	X.37:g.128621065C>A	ENSP00000360163:p.Arg716Ile		Somatic				SMARCA1_ENST00000371123.1_Missense_Mutation_p.R704I|SMARCA1_ENST00000371121.3_Missense_Mutation_p.R704I	p.R716I	NM_003069.3	NP_003060.2	WXS	Illumina GAIIx	Phase_I	P28370	SMCA1_HUMAN			17	2276	-			716					Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	c.2147G>T	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323312	0.81580	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84	5.79	3.96	0.45880	.	0.070244	0.56097	D	0.000040	D	0.93726	0.7995	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.62365	0.984;0.984;0.991;0.984	P;P;D;P	0.65684	0.786;0.866;0.937;0.866	D	0.93589	0.6919	10	0.87932	D	0	-11.1055	10.1095	0.42555	0.1368:0.7902:0.0:0.0731	.	695;716;704;716	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	I	704;704;716;695	ENSP00000360162:R704I;ENSP00000360164:R704I;ENSP00000360163:R716I;ENSP00000404275:R695I	ENSP00000360162:R704I	R	-	2	0	SMARCA1	128448746	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.394000	0.66285	1.189000	0.43028	0.544000	0.68410	AGA		0.323	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		4	52	1	0	0.000602214	1	0.000639561	4	52				
PLA2G7	7941	broad.mit.edu	37	6	46684241	46684241	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:46684241G>C	ENST00000274793.7	-	4	452	c.256C>G	c.(256-258)Cca>Gca	p.P86A	PLA2G7_ENST00000538237.1_Missense_Mutation_p.P41A|PLA2G7_ENST00000541026.1_Intron|PLA2G7_ENST00000537365.1_Missense_Mutation_p.P86A	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	86					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)	p.P86A(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TCTTGGGATGGATAATATAAA	0.368																																						ENST00000274793.7																			1	Substitution - Missense(1)	p.P86A(1)	kidney(1)	endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14						c.(256-258)Cca>Gca		phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)							94.0	93.0	93.0					6																	46684241		2203	4300	6503	SO:0001583	missense	7941				inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr6:46684241G>C	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.256C>G	6.37:g.46684241G>C	ENSP00000274793:p.Pro86Ala		Somatic				PLA2G7_ENST00000538237.1_Missense_Mutation_p.P41A|PLA2G7_ENST00000537365.1_Missense_Mutation_p.P86A|PLA2G7_ENST00000541026.1_Intron	p.P86A	NM_005084.3	NP_005075.3	WXS	Illumina GAIIx	Phase_I	Q13093	PAFA_HUMAN	Lung(136;0.192)		4	452	-			86					A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	c.256C>G	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028537	0.75390	.	.	ENSG00000146070	ENST00000274793;ENST00000537365;ENST00000538237	T;T;T	0.63096	-0.02;-0.02;-0.02	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.80276	0.4593	M	0.90705	3.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.985;0.985	D	0.84132	0.0412	10	0.87932	D	0	.	16.2297	0.82323	0.0:0.0:1.0:0.0	.	41;86;86	F5GYY6;A8K2W6;Q13093	.;.;PAFA_HUMAN	A	86;86;41	ENSP00000274793:P86A;ENSP00000445666:P86A;ENSP00000441416:P41A	ENSP00000274793:P86A	P	-	1	0	PLA2G7	46792200	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	7.728000	0.84847	2.622000	0.88805	0.563000	0.77884	CCA		0.368	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1			98	162	0	0	0	1	0	98	162				
RAB11FIP5	26056	broad.mit.edu	37	2	73316366	73316366	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:73316366C>T	ENST00000258098.6	-	2	749	c.509G>A	c.(508-510)cGc>cAc	p.R170H	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	170					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CAGGTTGTTGCGCGTGAACTG	0.532																																						ENST00000258098.6																			0				biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						c.(508-510)cGc>cAc		RAB11 family interacting protein 5 (class I)							328.0	319.0	322.0					2																	73316366		2203	4300	6503	SO:0001583	missense	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73316366C>T	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.509G>A	2.37:g.73316366C>T	ENSP00000258098:p.Arg170His		Somatic				RAB11FIP5_ENST00000493523.2_5'UTR	p.R170H	NM_015470.2	NP_056285.1	WXS	Illumina GAIIx	Phase_I	Q9BXF6	RFIP5_HUMAN			2	749	-			170					O94939|Q9P0M1	Missense_Mutation	SNP	ENST00000258098.6	37	c.509G>A	CCDS1923.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822055	0.90873	.	.	ENSG00000135631	ENST00000258098	T	0.33216	1.42	4.6	4.6	0.57074	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.57213	0.2038	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.60672	-0.7217	10	0.54805	T	0.06	-18.9627	16.5264	0.84332	0.0:1.0:0.0:0.0	.	170;170	Q9BXF6;Q2Z1P3	RFIP5_HUMAN;.	H	170	ENSP00000258098:R170H	ENSP00000258098:R170H	R	-	2	0	RAB11FIP5	73169874	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	5.936000	0.70153	2.570000	0.86706	0.561000	0.74099	CGC		0.532	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		5	514	0	0	0	1	0	5	514				
VPS13C	54832	broad.mit.edu	37	15	62241747	62241747	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr15:62241747C>T	ENST00000261517.5	-	42	4727	c.4654G>A	c.(4654-4656)Gat>Aat	p.D1552N	VPS13C_ENST00000249837.3_Missense_Mutation_p.D1509N|VPS13C_ENST00000395896.4_Missense_Mutation_p.D1552N|VPS13C_ENST00000395898.3_Missense_Mutation_p.D1509N	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.D1552N(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GATAAAAAATCCATGAAGGAA	0.408																																						ENST00000261517.5																			2	Substitution - Missense(2)	p.D1552N(2)	kidney(2)	NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(4654-4656)Gat>Aat		vacuolar protein sorting 13 homolog C (S. cerevisiae)							80.0	81.0	81.0					15																	62241747		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62241747C>T	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.4654G>A	15.37:g.62241747C>T	ENSP00000261517:p.Asp1552Asn		Somatic				VPS13C_ENST00000395896.4_Missense_Mutation_p.D1552N|VPS13C_ENST00000395898.3_Missense_Mutation_p.D1509N|VPS13C_ENST00000249837.3_Missense_Mutation_p.D1509N	p.D1552N	NM_020821.2	NP_065872.1	WXS	Illumina GAIIx	Phase_I	Q709C8	VP13C_HUMAN			42	4727	-			1552						Missense_Mutation	SNP	ENST00000261517.5	37	c.4654G>A	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	7.819	0.717312	0.15372	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T;T	0.26810	2.44;2.44;2.44;1.71	5.77	5.77	0.91146	.	0.231068	0.45606	D	0.000354	T	0.07098	0.0180	N	0.00408	-1.53	0.43342	D	0.995396	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.38067	-0.9678	10	0.16896	T	0.51	.	10.9576	0.47366	0.0:0.9149:0.0:0.0851	.	1509;1552;1509;1552	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	N	1509;1552;1552;1552	ENSP00000249837:D1509N;ENSP00000261517:D1552N;ENSP00000379233:D1552N;ENSP00000379235:D1552N	ENSP00000249837:D1509N	D	-	1	0	VPS13C	60029039	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.342000	0.33919	2.729000	0.93468	0.655000	0.94253	GAT		0.408	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		42	87	0	0	0	1	0	42	87				
TRAK1	22906	broad.mit.edu	37	3	42251562	42251562	+	Intron	SNP	A	A	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr3:42251562A>G	ENST00000327628.5	+	14	2363				TRAK1_ENST00000396175.1_Intron|TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000341421.3_Missense_Mutation_p.E625G	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1						endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.E625G(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GAGATGCAGGAGCCGCCAGCG	0.632																																					GBM(44;195 884 22595 31865 41850)	ENST00000341421.3																			1	Substitution - Missense(1)	p.E625G(1)	kidney(1)	central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(1873-1875)gAg>gGg		trafficking protein, kinesin binding 1							35.0	40.0	38.0					3																	42251562		2203	4300	6503	SO:0001627	intron_variant	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42251562A>G		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1963+85A>G	3.37:g.42251562A>G			Somatic				TRAK1_ENST00000327628.5_Intron|TRAK1_ENST00000396175.1_Intron|TRAK1_ENST00000487159.1_Intron	p.E625G	NM_001265608.1|NM_014965.4	NP_001252537.1|NP_055780.2	WXS	Illumina GAIIx	Phase_I	Q9UPV9	TRAK1_HUMAN			13	2067	+			0					E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	c.1874A>G	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	A	17.30	3.353531	0.61293	.	.	ENSG00000182606	ENST00000341421	T	0.09538	2.97	5.19	5.19	0.71726	.	.	.	.	.	T	0.07863	0.0197	N	0.14661	0.345	0.22001	N	0.999421	B;B;B	0.19817	0.004;0.004;0.039	B;B;B	0.21360	0.007;0.007;0.034	T	0.32851	-0.9891	8	.	.	.	.	14.5271	0.67897	1.0:0.0:0.0:0.0	.	609;683;625	B7Z218;B7Z347;Q9UPV9-2	.;.;.	G	625	ENSP00000340702:E625G	.	E	+	2	0	TRAK1	42226566	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.786000	0.55431	2.079000	0.62486	0.533000	0.62120	GAG		0.632	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		4	16	0	0	0	1	0	4	16				
CMYA5	202333	broad.mit.edu	37	5	79031741	79031741	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:79031741C>T	ENST00000446378.2	+	2	7184	c.7153C>T	c.(7153-7155)Cca>Tca	p.P2385S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2385					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.P2385S(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGATAAGGTGCCACAACAGCC	0.353																																						ENST00000446378.2																			2	Substitution - Missense(2)	p.P2385S(2)	kidney(2)	NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(7153-7155)Cca>Tca		cardiomyopathy associated 5							36.0	37.0	37.0					5																	79031741		1891	4124	6015	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79031741C>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.7153C>T	5.37:g.79031741C>T	ENSP00000394770:p.Pro2385Ser		Somatic					p.P2385S	NM_153610.3	NP_705838.3	WXS	Illumina GAIIx	Phase_I	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	7184	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2385					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.7153C>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.552819	0.27739	.	.	ENSG00000164309	ENST00000446378	T	0.21031	2.03	5.51	1.75	0.24633	.	1.028080	0.07727	N	0.944615	T	0.17365	0.0417	L	0.55103	1.725	0.09310	N	0.999999	B	0.27498	0.18	B	0.24541	0.054	T	0.37478	-0.9704	10	0.15952	T	0.53	.	4.2178	0.10544	0.1606:0.5844:0.0:0.255	.	2385	Q8N3K9	CMYA5_HUMAN	S	2385	ENSP00000394770:P2385S	ENSP00000394770:P2385S	P	+	1	0	CMYA5	79067497	0.000000	0.05858	0.631000	0.29282	0.835000	0.47333	-0.440000	0.06888	0.094000	0.17404	0.655000	0.94253	CCA		0.353	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		61	144	0	0	0	1	0	61	144				
LUZP2	338645	broad.mit.edu	37	11	25098952	25098952	+	Splice_Site	SNP	G	G	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:25098952G>A	ENST00000336930.6	+	11	1002	c.936G>A	c.(934-936)caG>caA	p.Q312Q	LUZP2_ENST00000533227.1_Splice_Site_p.Q226Q			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	312						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTATCCCACAGGTATGTGTTT	0.313																																						ENST00000533227.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.e11+1		leucine zipper protein 2							138.0	136.0	137.0					11																	25098952		2203	4300	6503	SO:0001630	splice_region_variant	338645					extracellular region		g.chr11:25098952G>A	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.936+1G>A	11.37:g.25098952G>A			Somatic				LUZP2_ENST00000336930.6_Splice_Site_p.Q312_splice	p.Q226_splice	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	WXS	Illumina GAIIx	Phase_I	Q86TE4	LUZP2_HUMAN			11	965	+			312					A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Splice_Site	SNP	ENST00000336930.6	37	c.678_splice	CCDS31446.1																																																																																				0.313	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909	Silent	7	297	0	0	0	1	0	7	297				
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|NDUFS1_ENST00000423725.1_5'Flank|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468																																						ENST00000392222.2																			4	Substitution - Missense(4)	p.S43G(4)	endometrium(2)|lung(1)|kidney(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(127-129)Agc>Ggc		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025358		2203	4300	6503	SO:0001583	missense	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025358A>G	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.127A>G	2.37:g.207025358A>G	ENSP00000376056:p.Ser43Gly		Somatic				EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G	p.S43G	NM_001959.3	NP_001950.1	WXS	Illumina GAIIx	Phase_I	P24534	EF1B_HUMAN			2	502	+			43			GST C-terminal.		A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	c.127A>G	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.585588	0.00872	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222;ENST00000445505	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.47	0.911	0.19343	Glutathione S-transferase, C-terminal-like (2);	0.442134	0.26800	N	0.022437	T	0.19846	0.0477	N	0.16098	0.37	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	10	0.17832	T	0.49	-2.1703	6.3337	0.21285	0.2348:0.0:0.6384:0.1268	.	43	P24534	EF1B_HUMAN	G	43	ENSP00000236957:S43G;ENSP00000376055:S43G;ENSP00000376056:S43G;ENSP00000407730:S43G	ENSP00000236957:S43G	S	+	1	0	EEF1B2	206733603	0.049000	0.20398	0.145000	0.22337	0.051000	0.14879	0.879000	0.28146	-0.027000	0.13873	-0.252000	0.11476	AGC		0.468	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		4	58	0	0	0	1	0	4	58				
GRIK3	2899	broad.mit.edu	37	1	37335385	37335385	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:37335385C>T	ENST00000373091.3	-	5	766	c.750G>A	c.(748-750)atG>atA	p.M250I	GRIK3_ENST00000373093.4_Missense_Mutation_p.M250I	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	250					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.M250I(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				ACTCAGTCATCATGCCCATGG	0.557																																						ENST00000373091.3																			1	Substitution - Missense(1)	p.M250I(1)	kidney(1)	breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(748-750)atG>atA		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						145.0	121.0	129.0					1																	37335385		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37335385C>T	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.750G>A	1.37:g.37335385C>T	ENSP00000362183:p.Met250Ile		Somatic				GRIK3_ENST00000373093.4_Missense_Mutation_p.M250I	p.M250I	NM_000831.3	NP_000822.2	WXS	Illumina GAIIx	Phase_I	Q13003	GRIK3_HUMAN			5	766	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	250					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.750G>A	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774105	0.90108	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	D;D	0.84070	-1.8;-1.8	4.71	4.71	0.59529	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.86285	0.5896	M	0.63208	1.945	0.58432	D	0.999999	P;P	0.47409	0.828;0.895	P;P	0.50162	0.527;0.633	D	0.88339	0.2973	10	0.72032	D	0.01	.	18.0477	0.89337	0.0:1.0:0.0:0.0	.	250;250	A9Z1Z8;Q13003	.;GRIK3_HUMAN	I	250	ENSP00000362183:M250I;ENSP00000362185:M250I	ENSP00000362183:M250I	M	-	3	0	GRIK3	37107972	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.453000	0.80700	2.343000	0.79666	0.655000	0.94253	ATG		0.557	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		27	131	0	0	0	1	0	27	131				
SPAG16	79582	broad.mit.edu	37	2	214239769	214239769	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:214239769G>A	ENST00000331683.5	+	9	963	c.868G>A	c.(868-870)Ggt>Agt	p.G290S	SPAG16_ENST00000374309.3_Missense_Mutation_p.G196S|SPAG16_ENST00000447990.1_Missense_Mutation_p.G290S|SPAG16_ENST00000272898.7_Missense_Mutation_p.G290S	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	290					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.G290S(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGCACCAGAAGGTCCTACTCA	0.318																																						ENST00000331683.5																			1	Substitution - Missense(1)	p.G290S(1)	kidney(1)	endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56						c.(868-870)Ggt>Agt		sperm associated antigen 16							86.0	81.0	83.0					2																	214239769		2203	4300	6503	SO:0001583	missense	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214239769G>A	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.868G>A	2.37:g.214239769G>A	ENSP00000332592:p.Gly290Ser		Somatic				SPAG16_ENST00000374309.3_Missense_Mutation_p.G196S|SPAG16_ENST00000447990.1_Missense_Mutation_p.G290S|SPAG16_ENST00000272898.7_Missense_Mutation_p.G290S	p.G290S	NM_024532.4	NP_078808.3	WXS	Illumina GAIIx	Phase_I	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	9	963	+		Renal(323;0.00461)	290					Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	c.868G>A	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.374171	0.24857	.	.	ENSG00000144451	ENST00000331683;ENST00000272898;ENST00000447990;ENST00000374309	T;T	0.56275	0.52;0.47	5.0	4.12	0.48240	WD40/YVTN repeat-like-containing domain (1);	0.324591	0.29321	N	0.012483	T	0.56863	0.2014	L	0.42686	1.345	0.30529	N	0.767608	D;P;B;D	0.69078	0.997;0.734;0.397;0.993	P;B;B;P	0.56751	0.805;0.301;0.093;0.805	T	0.59327	-0.7475	10	0.46703	T	0.11	.	11.2799	0.49188	0.0:0.1838:0.8162:0.0	.	196;141;230;290	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	S	290;290;290;196	ENSP00000332592:G290S;ENSP00000363428:G196S	ENSP00000272898:G290S	G	+	1	0	SPAG16	213948014	1.000000	0.71417	1.000000	0.80357	0.318000	0.28184	3.012000	0.49575	1.300000	0.44818	-0.305000	0.09177	GGT		0.318	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		26	94	0	0	0	1	0	26	94				
PCDHB1	29930	broad.mit.edu	37	5	140432337	140432337	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:140432337G>A	ENST00000306549.3	+	1	1359	c.1282G>A	c.(1282-1284)Gga>Aga	p.G428R		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	428	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATGGATACTGGACCACCTAG	0.443																																						ENST00000306549.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(1282-1284)Gga>Aga									98.0	95.0	96.0					5																	140432337		2203	4300	6503	SO:0001583	missense	29930				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140432337G>A	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1282G>A	5.37:g.140432337G>A	ENSP00000307234:p.Gly428Arg		Somatic					p.G428R	NM_013340.2	NP_037472.2	WXS	Illumina GAIIx	Phase_I	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1359	+			428			Cadherin 4.		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.1282G>A	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.319735	0.81469	.	.	ENSG00000171815	ENST00000306549	T	0.03468	3.92	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.000000	0.46442	D	0.000292	T	0.38931	0.1059	H	0.99325	4.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62895	-0.6757	10	0.87932	D	0	.	20.4898	0.99202	0.0:0.0:1.0:0.0	.	428	Q9Y5F3	PCDB1_HUMAN	R	428	ENSP00000307234:G428R	ENSP00000307234:G428R	G	+	1	0	PCDHB1	140412521	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.014000	0.49590	2.941000	0.99782	0.655000	0.94253	GGA		0.443	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		5	157	0	0	0	1	0	5	157				
DNAH7	56171	broad.mit.edu	37	2	196720569	196720569	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:196720569A>T	ENST00000312428.6	-	45	8661	c.8561T>A	c.(8560-8562)tTa>tAa	p.L2854*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2854	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGTTTATTTAATTCAAGTGT	0.418																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(8560-8562)tTa>tAa		dynein, axonemal, heavy chain 7							251.0	237.0	241.0					2																	196720569		1836	4096	5932	SO:0001587	stop_gained	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196720569A>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.8561T>A	2.37:g.196720569A>T	ENSP00000311273:p.Leu2854*		Somatic					p.L2854*	NM_018897.2	NP_061720.2	WXS	Illumina GAIIx	Phase_I	Q8WXX0	DYH7_HUMAN			45	8661	-			2854			Stalk (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Nonsense_Mutation	SNP	ENST00000312428.6	37	c.8561T>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	A	48	14.008433	0.99775	.	.	ENSG00000118997	ENST00000312428	.	.	.	5.31	2.89	0.33648	.	0.640279	0.14533	N	0.313770	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	3.1499	0.06484	0.3715:0.0:0.1842:0.4443	.	.	.	.	X	2854	.	ENSP00000311273:L2854X	L	-	2	0	DNAH7	196428814	0.005000	0.15991	0.003000	0.11579	0.312000	0.27988	0.845000	0.27668	0.440000	0.26502	0.455000	0.32223	TTA		0.418	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		7	751	0	0	0	1	0	7	751				
TNRC18	84629	broad.mit.edu	37	7	5391580	5391580	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr7:5391580C>A	ENST00000430969.1	-	17	5688	c.5340G>T	c.(5338-5340)agG>agT	p.R1780S	TNRC18_ENST00000399537.4_Missense_Mutation_p.R1780S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1780							chromatin binding (GO:0003682)	p.R1780_G1781>SC(2)|p.R1780S(2)|p.R835S(1)|p.R835_G836>SC(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCGCCAGGCCCCTCTTGGTCA	0.647																																						ENST00000399537.4																			6	Substitution - Missense(3)|Complex - compound substitution(3)	p.R1780_G1781>SC(2)|p.R1780S(2)|p.R835S(1)|p.R835_G836>SC(1)	kidney(6)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(5338-5340)agG>agT		trinucleotide repeat containing 18							22.0	23.0	22.0					7																	5391580		1568	3582	5150	SO:0001583	missense	84629						DNA binding	g.chr7:5391580C>A	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.5340G>T	7.37:g.5391580C>A	ENSP00000395538:p.Arg1780Ser		Somatic				TNRC18_ENST00000430969.1_Missense_Mutation_p.R1780S	p.R1780S			WXS	Illumina GAIIx	Phase_I	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	17	5688	-		Ovarian(82;0.142)	1780					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.5340G>T	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	c	12.12	1.843500	0.32606	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544	T;T	0.13196	2.61;2.61	5.03	4.15	0.48705	.	0.000000	0.37053	N	0.002269	T	0.16938	0.0407	L	0.58669	1.825	0.33683	D	0.612313	P;D	0.53151	0.884;0.958	P;P	0.47528	0.503;0.549	T	0.25467	-1.0131	10	0.44086	T	0.13	.	6.3844	0.21552	0.1346:0.6605:0.1303:0.0746	.	835;1780	A8MSW5;O15417	.;TNC18_HUMAN	S	1780;1780;835	ENSP00000382452:R1780S;ENSP00000395538:R1780S	ENSP00000382452:R1780S	R	-	3	2	TNRC18	5358106	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.755000	0.38379	1.130000	0.42092	0.561000	0.74099	AGG		0.647	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				22	58	1	0	1.9806e-07	1	2.18824e-07	22	58				
PNPLA6	10908	broad.mit.edu	37	19	7605595	7605595	+	Splice_Site	SNP	C	C	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr19:7605595C>G	ENST00000221249.6	+	9	1108	c.677C>G	c.(676-678)aCc>aGc	p.T226S	PNPLA6_ENST00000450331.3_Splice_Site_p.T226S|PNPLA6_ENST00000414982.3_Splice_Site_p.T274S|PNPLA6_ENST00000600737.1_Splice_Site_p.T265S|PNPLA6_ENST00000545201.2_Splice_Site_p.T226S	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	265					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)	p.T226S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GATGTCATCACCGTGAGTGAC	0.577																																						ENST00000221249.6																			1	Substitution - Missense(1)	p.T226S(1)	kidney(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.e9+1		patatin-like phospholipase domain containing 6							182.0	141.0	155.0					19																	7605595		2203	4300	6503	SO:0001630	splice_region_variant	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7605595C>G	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.678+1C>G	19.37:g.7605595C>G			Somatic				PNPLA6_ENST00000414982.3_Splice_Site_p.T274_splice|PNPLA6_ENST00000545201.2_Splice_Site_p.T226_splice|PNPLA6_ENST00000450331.3_Splice_Site_p.T226_splice|PNPLA6_ENST00000600737.1_Splice_Site_p.T265_splice	p.T226_splice	NM_006702.4	NP_006693.3	WXS	Illumina GAIIx	Phase_I	Q8IY17	PLPL6_HUMAN			9	1108	+			265					A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Splice_Site	SNP	ENST00000221249.6	37	c.678_splice	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588661	0.86851	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000544207;ENST00000450331	T;T;T;T	0.04758	3.61;3.56;3.59;3.61	5.2	5.2	0.72013	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	T	0.13670	0.0331	L	0.42487	1.325	0.80722	D	1	D;D;D;D	0.64830	0.988;0.97;0.985;0.994	D;P;P;P	0.63877	0.919;0.779;0.868;0.858	T	0.03157	-1.1066	10	0.33940	T	0.23	.	16.2158	0.82217	0.0:1.0:0.0:0.0	.	265;226;265;226	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	S	226;226;274;163;226	ENSP00000221249:T226S;ENSP00000443323:T226S;ENSP00000407509:T274S;ENSP00000394348:T226S	ENSP00000221249:T226S	T	+	2	0	PNPLA6	7511595	0.998000	0.40836	0.977000	0.42913	0.855000	0.48748	3.954000	0.56708	2.441000	0.82636	0.491000	0.48974	ACC		0.577	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702	Missense_Mutation	25	60	0	0	0	1	0	25	60				
LAMA2	3908	broad.mit.edu	37	6	129799907	129799907	+	Silent	SNP	T	T	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:129799907T>C	ENST00000421865.2	+	54	7570	c.7521T>C	c.(7519-7521)aaT>aaC	p.N2507N	RP1-69D17.3_ENST00000442449.1_RNA	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2507	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.N2507N(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTCCGTACAATATACTCAGTA	0.363																																						ENST00000421865.2																			1	Substitution - coding silent(1)	p.N2507N(1)	kidney(1)	NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(7519-7521)aaT>aaC		laminin, alpha 2							160.0	155.0	157.0					6																	129799907		2203	4300	6503	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129799907T>C	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7521T>C	6.37:g.129799907T>C			Somatic					p.N2507N	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	WXS	Illumina GAIIx	Phase_I	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	54	7570	+			2507			Laminin G-like 2.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.7521T>C	CCDS5138.1																																																																																				0.363	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			44	211	0	0	0	1	0	44	211				
CROCCP2	84809	broad.mit.edu	37	1	16956761	16956761	+	lincRNA	SNP	C	C	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:16956761C>G	ENST00000412962.1	-	0	294							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CCTGGACCTGCCCTGGGGCAG	0.647																																						ENST00000412962.1																			0																																																			84809							g.chr1:16956761C>G	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.16956761C>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	294	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.647	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		2	6	0	0	0	1	0	2	6				
TUBB8P7	197331	broad.mit.edu	37	16	90162340	90162340	+	RNA	SNP	C	C	T	rs138169571	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr16:90162340C>T	ENST00000564451.1	+	0	1693				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.R358W(1)									CATCCCACTCCGGGGGCTAAA	0.478													.|||	307	0.0613019	0.0461	0.0735	5008	,	,		21594	0.0268		0.0795	False		,,,				2504	0.09					ENST00000564451.1																			1	Substitution - Missense(1)	p.R358W(1)	stomach(1)																																																197331							g.chr16:90162340C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162340C>T			Somatic				TUBB8P7_ENST00000567960.1_RNA				WXS	Illumina GAIIx	Phase_I					0	1693	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.478	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	125	0	0	0	1	0	5	125				
PKP2	5318	broad.mit.edu	37	12	32996166	32996166	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:32996166T>C	ENST00000070846.6	-	6	1484	c.1460A>G	c.(1459-1461)cAa>cGa	p.Q487R	PKP2_ENST00000340811.4_Intron	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	487					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ccgcccgccttggcctcccaa	0.532																																						ENST00000070846.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50						c.(1459-1461)cAa>cGa		plakophilin 2							32.0	32.0	32.0					12																	32996166		2203	4296	6499	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:32996166T>C	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1460A>G	12.37:g.32996166T>C	ENSP00000070846:p.Gln487Arg		Somatic				PKP2_ENST00000340811.4_Intron	p.Q487R	NM_004572.3	NP_004563.2	WXS	Illumina GAIIx	Phase_I	Q99959	PKP2_HUMAN			6	1484	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		487					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.1460A>G	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.786271	0.00628	.	.	ENSG00000057294	ENST00000070846;ENST00000537278	T	0.52057	0.68	0.51	-1.02	0.10135	Armadillo-type fold (1);	.	.	.	.	T	0.19127	0.0459	N	0.11064	0.09	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18272	-1.0342	8	0.11182	T	0.66	.	.	.	.	.	487	Q99959	PKP2_HUMAN	R	487	ENSP00000070846:Q487R	ENSP00000070846:Q487R	Q	-	2	0	PKP2	32887433	0.006000	0.16342	0.003000	0.11579	0.004000	0.04260	-1.390000	0.02528	-1.723000	0.01375	-1.843000	0.00578	CAA		0.532	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		3	58	0	0	0	1	0	3	58				
GABBR1	2550	broad.mit.edu	37	6	29573438	29573438	+	Missense_Mutation	SNP	G	G	T	rs368201041		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:29573438G>T	ENST00000377034.4	-	20	2682	c.2347C>A	c.(2347-2349)Ctg>Atg	p.L783M	GABBR1_ENST00000377016.4_Missense_Mutation_p.L721M|GABBR1_ENST00000377012.4_Missense_Mutation_p.L666M|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000355973.3_Missense_Mutation_p.L666M	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	783					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.L783M(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	AAGATTCCCAGCAGCAGCAGC	0.512																																						ENST00000377034.4																			1	Substitution - Missense(1)	p.L783M(1)	kidney(1)	endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2347-2349)Ctg>Atg		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)						136.0	111.0	120.0					6																	29573438		1511	2709	4220	SO:0001583	missense	2550				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29573438G>T	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.2347C>A	6.37:g.29573438G>T	ENSP00000366233:p.Leu783Met		Somatic				GABBR1_ENST00000377012.4_Missense_Mutation_p.L666M|GABBR1_ENST00000377016.4_Missense_Mutation_p.L721M|GABBR1_ENST00000355973.3_Missense_Mutation_p.L666M|GABBR1_ENST00000376977.3_3'UTR	p.L783M	NM_001470.2	NP_001461.1	WXS	Illumina GAIIx	Phase_I	Q9UBS5	GABR1_HUMAN			20	2682	-			783					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	c.2347C>A	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993946	0.74703	.	.	ENSG00000204681	ENST00000355973;ENST00000377016;ENST00000377012;ENST00000377034	D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47	5.18	3.4	0.38934	GPCR, family 3, C-terminal (2);	0.073544	0.56097	D	0.000033	D	0.88463	0.6443	L	0.49126	1.545	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.995	D;D;D	0.67548	0.94;0.952;0.913	D	0.88649	0.3181	10	0.72032	D	0.01	-21.1235	9.7889	0.40692	0.1706:0.0:0.8294:0.0	.	721;783;666	Q9UBS5-3;Q9UBS5;Q5SUJ9	.;GABR1_HUMAN;.	M	666;721;666;783	ENSP00000348248:L666M;ENSP00000366215:L721M;ENSP00000366211:L666M;ENSP00000366233:L783M	ENSP00000348248:L666M	L	-	1	2	GABBR1	29681417	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.959000	0.63666	0.691000	0.31592	0.655000	0.94253	CTG		0.512	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			52	162	1	0	3.31993e-32	1	3.98974e-32	52	162				
TRPC4	7223	broad.mit.edu	37	13	38320157	38320157	+	Silent	SNP	G	G	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr13:38320157G>T	ENST00000379705.3	-	3	1671	c.814C>A	c.(814-816)Cga>Aga	p.R272R	TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000379681.3_Silent_p.R272R|TRPC4_ENST00000355779.2_Silent_p.R272R|TRPC4_ENST00000379673.2_Silent_p.R272R|TRPC4_ENST00000447043.1_Silent_p.R272R|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000358477.2_Silent_p.R272R|TRPC4_ENST00000426868.2_Silent_p.R272R			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	272	Multimerization domain. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.R272*(2)|p.R272R(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTGTCATCTCGGTAATTAAGA	0.418																																						ENST00000379705.3																			4	Substitution - Nonsense(2)|Substitution - coding silent(2)	p.R272*(2)|p.R272R(2)	urinary_tract(2)|kidney(2)	NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(814-816)Cga>Aga		transient receptor potential cation channel, subfamily C, member 4							189.0	179.0	183.0					13																	38320157		2203	4300	6503	SO:0001819	synonymous_variant	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38320157G>T	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.814C>A	13.37:g.38320157G>T			Somatic				TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000447043.1_Silent_p.R272R|TRPC4_ENST00000426868.2_Silent_p.R272R|TRPC4_ENST00000379681.3_Silent_p.R272R|TRPC4_ENST00000355779.2_Silent_p.R272R|TRPC4_ENST00000379673.2_Silent_p.R272R|TRPC4_ENST00000358477.2_Silent_p.R272R	p.R272R			WXS	Illumina GAIIx	Phase_I	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	3	1671	-			272			Multimerization domain (By similarity).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP	ENST00000379705.3	37	c.814C>A	CCDS9365.1																																																																																				0.418	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		63	270	1	0	2.18419e-29	1	2.60204e-29	63	270				
PGBD4	161779	broad.mit.edu	37	15	34395952	34395952	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr15:34395952T>A	ENST00000397766.2	+	1	1679	c.1220T>A	c.(1219-1221)gTa>gAa	p.V407E	EMC7_ENST00000256545.4_5'Flank|EMC7_ENST00000532113.1_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	407										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		GTGATTGAAGTAAACAATAGA	0.413																																						ENST00000397766.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16						c.(1219-1221)gTa>gAa		piggyBac transposable element derived 4							82.0	73.0	76.0					15																	34395952		2201	4298	6499	SO:0001583	missense	161779							g.chr15:34395952T>A	AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.1220T>A	15.37:g.34395952T>A	ENSP00000380872:p.Val407Glu		Somatic					p.V407E	NM_152595.4	NP_689808.2	WXS	Illumina GAIIx	Phase_I	Q96DM1	PGBD4_HUMAN		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)	1	1679	+		all_lung(180;1.76e-08)	407					A1L487|A8K0C6|Q8N9E8	Missense_Mutation	SNP	ENST00000397766.2	37	c.1220T>A	CCDS10033.1	.	.	.	.	.	.	.	.	.	.	t	13.37	2.218139	0.39201	.	.	ENSG00000182405	ENST00000397766	T	0.16897	2.31	0.7	0.7	0.18099	.	6.431450	0.03003	U	0.148499	T	0.11452	0.0279	N	0.11427	0.14	0.20489	N	0.999892	P	0.45986	0.87	P	0.48795	0.59	T	0.33879	-0.9851	10	0.02654	T	1	.	5.6236	0.17470	0.0:0.0:0.0:1.0	.	407	Q96DM1	PGBD4_HUMAN	E	407	ENSP00000380872:V407E	ENSP00000380872:V407E	V	+	2	0	PGBD4	32183244	0.161000	0.22892	0.029000	0.17559	0.222000	0.24845	0.452000	0.21795	0.567000	0.29293	0.255000	0.18592	GTA		0.413	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1			4	156	0	0	0	1	0	4	156				
FAM120AOS	158293	broad.mit.edu	37	9	96209937	96209937	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr9:96209937T>G	ENST00000375412.5	-	3	1609	c.727A>C	c.(727-729)Acc>Ccc	p.T243P	FAM120AOS_ENST00000423591.1_Missense_Mutation_p.T61P|FAM120AOS_ENST00000479094.1_5'UTR	NM_198841.2	NP_942138.2	Q5T036	F120S_HUMAN	family with sequence similarity 120A opposite strand	243								p.T243P(1)		kidney(1)|large_intestine(1)|lung(3)|skin(1)	6						GGTTTTGTGGTTTTCTTTGAG	0.333																																						ENST00000375412.5																			1	Substitution - Missense(1)	p.T243P(1)	kidney(1)	kidney(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(727-729)Acc>Ccc		family with sequence similarity 120A opposite strand							230.0	213.0	218.0					9																	96209937		2203	4300	6503	SO:0001583	missense	158293							g.chr9:96209937T>G	AK056096	CCDS6705.1	9q22.32	2008-02-05	2006-07-04	2006-07-04	ENSG00000188938	ENSG00000188938			23389	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 10 opposite strand"""	C9orf10OS		14585507	Standard	NM_198841		Approved		uc004atu.4	Q5T036	OTTHUMG00000020251	ENST00000375412.5:c.727A>C	9.37:g.96209937T>G	ENSP00000364561:p.Thr243Pro		Somatic				FAM120AOS_ENST00000423591.1_Missense_Mutation_p.T61P|FAM120AOS_ENST00000479094.1_5'UTR	p.T243P	NM_198841.2	NP_942138.2	WXS	Illumina GAIIx	Phase_I	Q5T036	F120S_HUMAN			3	1609	-			243					A6NN20	Missense_Mutation	SNP	ENST00000375412.5	37	c.727A>C	CCDS6705.1	.	.	.	.	.	.	.	.	.	.	T	6.120	0.390364	0.11581	.	.	ENSG00000188938	ENST00000423591;ENST00000375412;ENST00000375409;ENST00000428378	T;T;T	0.57107	0.48;0.46;0.42	1.92	0.719	0.18208	.	.	.	.	.	T	0.26195	0.0639	N	0.08118	0	0.09310	N	1	B	0.30361	0.277	B	0.17979	0.02	T	0.14896	-1.0456	9	0.87932	D	0	.	4.9211	0.13871	0.0:0.0:0.3826:0.6174	.	243	Q5T036	F120S_HUMAN	P	61;243;60;60	ENSP00000414298:T61P;ENSP00000364561:T243P;ENSP00000416978:T60P	ENSP00000364558:T60P	T	-	1	0	FAM120AOS	95249758	0.004000	0.15560	0.001000	0.08648	0.009000	0.06853	0.588000	0.23924	0.180000	0.19960	-0.482000	0.04802	ACC		0.333	FAM120AOS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053154.1			23	59	0	0	0	1	0	23	59				
PCDHB14	56122	broad.mit.edu	37	5	140604432	140604432	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:140604432C>A	ENST00000239449.4	+	1	1355	c.1355C>A	c.(1354-1356)aCc>aAc	p.T452N	PCDHB14_ENST00000515856.2_Missense_Mutation_p.T299N	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	452					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCACCTTCACCCAAACCTCC	0.592																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(1354-1356)aCc>aAc									137.0	135.0	135.0					5																	140604432		2203	4300	6503	SO:0001583	missense	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604432C>A	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1355C>A	5.37:g.140604432C>A	ENSP00000239449:p.Thr452Asn		Somatic				PCDHB14_ENST00000515856.2_Missense_Mutation_p.T299N	p.T452N	NM_018934.2	NP_061757.1	WXS	Illumina GAIIx	Phase_I	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1355	+			452					B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.1355C>A	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	2.719	-0.267058	0.05754	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.02944	4.1;4.1	4.5	1.38	0.22167	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.02767	0.0083	L	0.43554	1.36	0.09310	N	1	B	0.19583	0.037	B	0.18871	0.023	T	0.44375	-0.9332	9	0.45353	T	0.12	.	2.4696	0.04561	0.2621:0.3407:0.3006:0.0966	.	452	Q9Y5E9	PCDBE_HUMAN	N	299;452	ENSP00000444518:T299N;ENSP00000239449:T452N	ENSP00000239449:T452N	T	+	2	0	PCDHB14	140584616	0.000000	0.05858	0.977000	0.42913	0.027000	0.11550	-4.233000	0.00269	0.424000	0.26061	0.556000	0.70494	ACC		0.592	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		22	201	1	0	1.9806e-07	1	2.18824e-07	22	201				
DNAH9	1770	broad.mit.edu	37	17	11650990	11650990	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:11650990C>T	ENST00000262442.4	+	32	6585	c.6517C>T	c.(6517-6519)Cgg>Tgg	p.R2173W	DNAH9_ENST00000454412.2_Missense_Mutation_p.R2173W	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2173	AAA 2. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.R2173W(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GATCATGAAACGGCGCCCCGT	0.542																																						ENST00000262442.3																			1	Substitution - Missense(1)	p.R2173W(1)	kidney(1)	NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(6517-6519)Cgg>Tgg		dynein, axonemal, heavy chain 9							91.0	84.0	86.0					17																	11650990		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11650990C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6517C>T	17.37:g.11650990C>T	ENSP00000262442:p.Arg2173Trp		Somatic				DNAH9_ENST00000454412.2_Missense_Mutation_p.R2173W	p.R2173W	NM_001372.3	NP_001363.2	WXS	Illumina GAIIx	Phase_I	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	32	6585	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2173			AAA 2 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.6517C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987431	0.74589	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.56103	0.48;0.48	4.5	3.52	0.40303	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.385584	0.26638	N	0.023273	T	0.72447	0.3461	M	0.90542	3.125	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	T	0.75221	-0.3394	10	0.87932	D	0	.	8.0598	0.30627	0.1561:0.7625:0.0:0.0814	.	2173	Q9NYC9	DYH9_HUMAN	W	2173;2173;755	ENSP00000262442:R2173W;ENSP00000414874:R2173W	ENSP00000262442:R2173W	R	+	1	2	DNAH9	11591715	1.000000	0.71417	0.881000	0.34555	0.987000	0.75469	2.893000	0.48633	1.096000	0.41439	0.557000	0.71058	CGG		0.542	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		13	95	0	0	0	1	0	13	95				
COL7A1	1294	broad.mit.edu	37	3	48607732	48607732	+	Silent	SNP	G	G	A	rs142651194		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr3:48607732G>A	ENST00000328333.8	-	97	7523	c.7416C>T	c.(7414-7416)ggC>ggT	p.G2472G	COL7A1_ENST00000454817.1_Silent_p.G2440G	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2472	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G2472G(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCCACGCTCGCCTCGGGGCC	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		17413	0.0		0.0	False		,,,				2504	0.001					ENST00000328333.8																			1	Substitution - coding silent(1)	p.G2472G(1)	kidney(1)	NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(7414-7416)ggC>ggT		collagen, type VII, alpha 1		G		0,4406		0,0,2203	74.0	82.0	79.0		7416	-1.7	1.0	3	dbSNP_134	79	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	COL7A1	NM_000094.3		0,5,6498	AA,AG,GG		0.0581,0.0,0.0384		2472/2945	48607732	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48607732G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.7416C>T	3.37:g.48607732G>A			Somatic				COL7A1_ENST00000454817.1_Silent_p.G2440G	p.G2472G	NM_000094.3	NP_000085.1	WXS	Illumina GAIIx	Phase_I	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	97	7523	-			2472			Triple-helical region.		Q14054|Q16507	Silent	SNP	ENST00000328333.8	37	c.7416C>T	CCDS2773.1																																																																																				0.617	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		11	47	0	0	0	1	0	11	47				
OR4C15	81309	broad.mit.edu	37	11	55322030	55322030	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:55322030T>C	ENST00000314644.2	+	1	248	c.248T>C	c.(247-249)tTt>tCt	p.F83S		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTTGTTGTATTTTTGTTTGTC	0.403										HNSCC(20;0.049)																												ENST00000314644.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						c.(247-249)tTt>tCt		olfactory receptor, family 4, subfamily C, member 15							128.0	123.0	124.0					11																	55322030		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322030T>C	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.248T>C	11.37:g.55322030T>C	ENSP00000324958:p.Phe83Ser	HNSCC(20;0.049)	Somatic					p.F83S	NM_001001920.1	NP_001001920.1	WXS	Illumina GAIIx	Phase_I	Q8NGM1	OR4CF_HUMAN			1	248	+			29					Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.248T>C	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.024955	0.54683	.	.	ENSG00000181939	ENST00000314644	T	0.04551	3.6	5.12	3.97	0.46021	.	.	.	.	.	T	0.20618	0.0496	M	0.91768	3.24	0.28669	N	0.905743	D	0.56287	0.975	P	0.55345	0.774	T	0.11108	-1.0601	9	0.87932	D	0	.	10.5136	0.44876	0.0:0.0:0.1622:0.8377	.	29	Q8NGM1	OR4CF_HUMAN	S	83	ENSP00000324958:F83S	ENSP00000324958:F83S	F	+	2	0	OR4C15	55078606	0.234000	0.23783	0.370000	0.25965	0.608000	0.37181	2.849000	0.48286	0.936000	0.37367	0.317000	0.21355	TTT		0.403	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		4	586	0	0	0	1	0	4	586				
PEG3	5178	broad.mit.edu	37	19	57327386	57327386	+	Silent	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr19:57327386C>T	ENST00000326441.9	-	10	2787	c.2424G>A	c.(2422-2424)caG>caA	p.Q808Q	ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.Q808Q|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Silent_p.Q684Q|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Silent_p.Q682Q|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	808					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CATCGAAGCTCTGAATGGTAG	0.468																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(2422-2424)caG>caA		paternally expressed 3							145.0	139.0	141.0					19																	57327386		2203	4300	6503	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327386C>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2424G>A	19.37:g.57327386C>T			Somatic				ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Silent_p.Q682Q|PEG3_ENST00000598410.1_Silent_p.Q684Q|PEG3_ENST00000423103.2_Silent_p.Q808Q|ZIM2_ENST00000593711.1_Intron	p.Q808Q	NM_006210.2	NP_006201.1	WXS	Illumina GAIIx	Phase_I	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	2787	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	808					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.2424G>A	CCDS12948.1																																																																																				0.468	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			9	437	0	0	0	1	0	9	437				
AFF3	3899	broad.mit.edu	37	2	100182040	100182040	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:100182040A>G	ENST00000409236.2	-	18	3140	c.3028T>C	c.(3028-3030)Tcg>Ccg	p.S1010P	AFF3_ENST00000317233.4_Missense_Mutation_p.S1010P|AFF3_ENST00000356421.2_Missense_Mutation_p.S1035P|AFF3_ENST00000409579.1_Missense_Mutation_p.S1035P			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1010					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCGATAAACGACAATGCTGCT	0.398																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(3028-3030)Tcg>Ccg		AF4/FMR2 family, member 3							168.0	155.0	159.0					2																	100182040		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100182040A>G	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.3028T>C	2.37:g.100182040A>G	ENSP00000387207:p.Ser1010Pro		Somatic				AFF3_ENST00000409236.1_Missense_Mutation_p.S1010P|AFF3_ENST00000356421.2_Missense_Mutation_p.S1035P|AFF3_ENST00000409579.1_Missense_Mutation_p.S1035P	p.S1010P	NM_002285.2	NP_002276.2	WXS	Illumina GAIIx	Phase_I	P51826	AFF3_HUMAN			19	3263	-			1010					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.3028T>C	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.000612	0.74818	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000445815	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0	5.67	4.48	0.54585	.	0.070354	0.64402	D	0.000014	D	0.87010	0.6071	M	0.86502	2.82	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.984	D	0.88223	0.2898	10	0.62326	D	0.03	.	12.9707	0.58511	0.8649:0.1351:0.0:0.0	.	1010;1035	P51826;P51826-2	AFF3_HUMAN;.	P	1010;1035;1035;1010;52	ENSP00000317421:S1010P;ENSP00000348793:S1035P;ENSP00000386834:S1035P;ENSP00000387207:S1010P;ENSP00000416685:S52P	ENSP00000317421:S1010P	S	-	1	0	AFF3	99548472	1.000000	0.71417	0.962000	0.40283	0.620000	0.37586	7.354000	0.79424	1.029000	0.39812	0.533000	0.62120	TCG		0.398	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		3	237	0	0	0	1	0	3	237				
MUC17	140453	broad.mit.edu	37	7	100685938	100685938	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr7:100685938G>T	ENST00000306151.4	+	3	11305	c.11241G>T	c.(11239-11241)atG>atT	p.M3747I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3747	Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.M3747I(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGTGTCAATGCCCATGGAAA	0.473																																						ENST00000306151.4																			2	Substitution - Missense(2)	p.M3747I(2)	large_intestine(1)|kidney(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(11239-11241)atG>atT		mucin 17, cell surface associated							231.0	219.0	223.0					7																	100685938		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685938G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11241G>T	7.37:g.100685938G>T	ENSP00000302716:p.Met3747Ile		Somatic					p.M3747I	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	11305	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3747			Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.11241G>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	0.015	-1.568913	0.00895	.	.	ENSG00000169876	ENST00000306151	T	0.01854	4.6	2.18	-4.37	0.03633	.	.	.	.	.	T	0.01156	0.0038	N	0.08118	0	0.09310	N	1	B	0.17852	0.024	B	0.21546	0.035	T	0.44251	-0.9340	9	0.36615	T	0.2	.	1.8825	0.03231	0.2822:0.1252:0.4285:0.164	.	3747	Q685J3	MUC17_HUMAN	I	3747	ENSP00000302716:M3747I	ENSP00000302716:M3747I	M	+	3	0	MUC17	100472658	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.017000	0.03630	-2.879000	0.00320	-2.111000	0.00353	ATG		0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		89	89	1	0	6.64208e-72	1	8.05279e-72	89	89				
VPS13D	55187	broad.mit.edu	37	1	12422832	12422833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:12422832_12422833insC	ENST00000358136.3	+	51	10328_10329	c.10198_10199insC	c.(10198-10200)gccfs	p.A3400fs	VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.A3375fs	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGTCATCTTTGCCCCCCGTTAC	0.426																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(10198-10200)cccfs		vacuolar protein sorting 13 homolog D (S. cerevisiae)																																				SO:0001589	frameshift_variant	55187				protein localization			g.chr1:12422832_12422833insC	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.10204dupC	1.37:g.12422838_12422838dupC	ENSP00000350854:p.Ala3400fs		Somatic				VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.P3375fs	p.P3400fs	NM_015378.2	NP_056193.2	WXS	Illumina GAIIx	Phase_I	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	51	10328_10329	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3399						Frame_Shift_Ins	INS	ENST00000358136.3	37	c.10198_10199insC	CCDS30588.1																																																																																				0.426	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		10	533						10	533	---	---	---	---
SPEN	23013	broad.mit.edu	37	1	16259479	16259480	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:16259479_16259480insC	ENST00000375759.3	+	11	6948_6949	c.6744_6745insC	c.(6745-6747)cccfs	p.P2249fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2249	Interaction with MSX2. {ECO:0000250}.|RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.A2251fs*102(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CAGATCTGCAACCCCCCGCAGG	0.554																																						ENST00000375759.3																			1	Deletion - Frameshift(1)	p.A2251fs*102(1)	large_intestine(1)	NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(6742-6747)caccccfs		spen family transcriptional repressor																																				SO:0001589	frameshift_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16259479_16259480insC		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.6750dupC	1.37:g.16259485_16259485dupC	ENSP00000364912:p.Pro2249fs		Somatic					p.HP2248fs	NM_015001.2	NP_055816.2	WXS	Illumina GAIIx	Phase_I	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	6948_6949	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2248			Interaction with MSX2 (By similarity).|RID.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Ins	INS	ENST00000375759.3	37	c.6744_6745insC	CCDS164.1																																																																																				0.554	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		7	353						7	353	---	---	---	---
FBXO42	54455	broad.mit.edu	37	1	16577865	16577866	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:16577865_16577866insG	ENST00000375592.3	-	10	1669_1670	c.1453_1454insC	c.(1453-1455)cgafs	p.R485fs		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	485										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TGATCCTCGTCGGGGGGCCAAA	0.485																																						ENST00000375592.3																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(1453-1455)acgfs		F-box protein 42																																				SO:0001589	frameshift_variant	54455							g.chr1:16577865_16577866insG	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.1454dupC	1.37:g.16577871_16577871dupG	ENSP00000364742:p.Arg485fs		Somatic					p.T485fs	NM_018994.1	NP_061867.1	WXS	Illumina GAIIx	Phase_I	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	10	1669_1670	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	485					B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Frame_Shift_Ins	INS	ENST00000375592.3	37	c.1453_1454insC	CCDS30613.1																																																																																				0.485	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			7	97						7	97	---	---	---	---
LUZP1	7798	broad.mit.edu	37	1	23417944	23417945	+	Frame_Shift_Ins	INS	-	-	G	rs202132789		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:23417944_23417945insG	ENST00000302291.4	-	4	3611_3612	c.2810_2811insC	c.(2809-2811)ccafs	p.P937fs	LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.P937fs|LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.P937fs|LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.P937fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	937					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTATTCGAGTTGGGGGGTCTTC	0.495																																						ENST00000302291.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(2809-2811)cacfs		leucine zipper protein 1																																				SO:0001589	frameshift_variant	7798					nucleus		g.chr1:23417944_23417945insG	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2811dupC	1.37:g.23417950_23417950dupG	ENSP00000303758:p.Pro937fs		Somatic				LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.H937fs	p.H937fs			WXS	Illumina GAIIx	Phase_I	Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	3611_3612	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	937					Q5TH93|Q8N4X3|Q8TEH1	Frame_Shift_Ins	INS	ENST00000302291.4	37	c.2810_2811insC	CCDS30628.1																																																																																				0.495	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		9	510						9	510	---	---	---	---
LDLRAP1	26119	broad.mit.edu	37	1	25889626	25889627	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:25889626_25889627insC	ENST00000374338.4	+	6	717_718	c.598_599insC	c.(598-600)accfs	p.T200fs	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	200					amyloid precursor protein metabolic process (GO:0042982)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|positive regulation of cholesterol metabolic process (GO:0090205)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of signal transduction (GO:0009967)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein binding (GO:0043393)|transport (GO:0006810)	axon (GO:0030424)|basal plasma membrane (GO:0009925)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|neurofilament (GO:0005883)|recycling endosome (GO:0055037)	AP-2 adaptor complex binding (GO:0035612)|beta-amyloid binding (GO:0001540)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphotyrosine binding (GO:0001784)|receptor signaling complex scaffold activity (GO:0030159)|signaling adaptor activity (GO:0035591)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		CCAAGACTGCACCCCCTCCTTG	0.634																																						ENST00000374338.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						c.(598-600)cccfs		low density lipoprotein receptor adaptor protein 1																																				SO:0001589	frameshift_variant	26119				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity	g.chr1:25889626_25889627insC	BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978			18640	protein-coding gene	gene with protein product		605747					Standard	NM_015627		Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.603dupC	1.37:g.25889631_25889631dupC	ENSP00000363458:p.Thr200fs		Somatic				LDLRAP1_ENST00000488127.1_3'UTR	p.P200fs	NM_015627.2	NP_056442.2	WXS	Illumina GAIIx	Phase_I	Q5SW96	ARH_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)	6	717_718	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	200					A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	Frame_Shift_Ins	INS	ENST00000374338.4	37	c.598_599insC	CCDS30639.1																																																																																				0.634	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019350.3	NM_015627		7	99						7	99	---	---	---	---
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)tccfs	p.S344fs	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.S354fs	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515																																						ENST00000373839.3																			1	Deletion - Frameshift(1)	p.P356fs*33(1)	ovary(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(1030-1032)cccfs		phosphatase and actin regulator 4																																				SO:0001589	frameshift_variant	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28800272_28800273insC	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1037dupC	1.37:g.28800279_28800279dupC	ENSP00000362945:p.Ser344fs		Somatic				PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs	p.P344fs	NM_001048183.1	NP_001041648.1	WXS	Illumina GAIIx	Phase_I	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	7	1291_1292	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	344			Pro-rich.		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Frame_Shift_Ins	INS	ENST00000373839.3	37	c.1030_1031insC	CCDS41293.1																																																																																				0.515	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		8	505						8	505	---	---	---	---
PUM1	9698	broad.mit.edu	37	1	31406073	31406074	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:31406073_31406074insG	ENST00000257075.5	-	22	3638_3639	c.3545_3546insC	c.(3544-3546)cctfs	p.P1182fs	PUM1_ENST00000373747.3_Frame_Shift_Ins_p.P1185fs|PUM1_ENST00000423018.2_Frame_Shift_Ins_p.P1040fs|SNORD103A_ENST00000363284.1_RNA|PUM1_ENST00000373742.2_Frame_Shift_Ins_p.P1123fs|PUM1_ENST00000373741.4_Frame_Shift_Ins_p.P1220fs|PUM1_ENST00000424085.2_Frame_Shift_Ins_p.P940fs|PUM1_ENST00000426105.2_Frame_Shift_Ins_p.P1184fs|PUM1_ENST00000440538.2_Frame_Shift_Ins_p.P1158fs	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	1182					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TGATACCATTAGGGGGGCCACA	0.525																																						ENST00000373747.3																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(3553-3555)caafs		pumilio RNA-binding family member 1																																				SO:0001589	frameshift_variant	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31406073_31406074insG	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.3546dupC	1.37:g.31406079_31406079dupG	ENSP00000257075:p.Pro1182fs		Somatic				PUM1_ENST00000440538.2_Frame_Shift_Ins_p.Q1158fs|PUM1_ENST00000257075.5_Frame_Shift_Ins_p.Q1182fs|PUM1_ENST00000426105.2_Frame_Shift_Ins_p.Q1184fs|PUM1_ENST00000424085.2_Frame_Shift_Ins_p.Q940fs|PUM1_ENST00000423018.2_Frame_Shift_Ins_p.Q1040fs|PUM1_ENST00000373741.4_Frame_Shift_Ins_p.Q1220fs|PUM1_ENST00000373742.2_Frame_Shift_Ins_p.Q1123fs	p.Q1185fs	NM_001020658.1	NP_001018494.1	WXS	Illumina GAIIx	Phase_I	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	22	3653_3654	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	1182					A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Frame_Shift_Ins	INS	ENST00000257075.5	37	c.3554_3555insC	CCDS338.1																																																																																				0.525	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			8	433						8	433	---	---	---	---
IQCC	55721	broad.mit.edu	37	1	32673442	32673443	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:32673442_32673443insG	ENST00000291358.6	+	5	1181_1182	c.1160_1161insG	c.(1159-1164)ttggggfs	p.LG387fs	RP4-622L5.7_ENST00000373604.4_RNA|RP4-622L5.7_ENST00000421616.1_RNA|DCDC2B_ENST00000409358.1_5'Flank|IQCC_ENST00000537469.1_Frame_Shift_Ins_p.LG467fs	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	387										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATGGTACCTTGGGGGGGCCAG	0.55																																						ENST00000537469.1																			0				endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15						c.(1399-1401)tggfs		IQ motif containing C																																				SO:0001589	frameshift_variant	55721							g.chr1:32673442_32673443insG	AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.1167dupG	1.37:g.32673449_32673449dupG	ENSP00000291358:p.Leu387fs		Somatic				IQCC_ENST00000291358.6_Frame_Shift_Ins_p.W387fs	p.W467fs	NM_001160042.1	NP_001153514.1	WXS	Illumina GAIIx	Phase_I	Q4KMZ1	IQCC_HUMAN			5	1447_1448	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	387					F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Frame_Shift_Ins	INS	ENST00000291358.6	37	c.1400_1401insG	CCDS355.1																																																																																				0.550	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3	NM_018134		11	131						11	131	---	---	---	---
KIAA1522	57648	broad.mit.edu	37	1	33233494	33233495	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:33233494_33233495insC	ENST00000373480.1	+	2	268_269	c.165_166insC	c.(166-168)cccfs	p.P56fs	KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.P67fs|KIAA1522_ENST00000401073.2_Frame_Shift_Ins_p.P115fs|KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.P56fs	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	56										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCAGTGGGCGACCCCCCCACCT	0.614																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(340-345)cgccccfs		KIAA1522																																				SO:0001589	frameshift_variant	57648							g.chr1:33233494_33233495insC	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.172dupC	1.37:g.33233501_33233501dupC	ENSP00000362579:p.Pro56fs		Somatic				KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.RP66fs|KIAA1522_ENST00000373480.1_Frame_Shift_Ins_p.RP55fs|KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.RP55fs	p.RP114fs	NM_020888.2	NP_065939.2	WXS	Illumina GAIIx	Phase_I	Q9P206	K1522_HUMAN			2	412_413	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	55		S -> P (in dbSNP:rs3737994).			B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Frame_Shift_Ins	INS	ENST00000373480.1	37	c.342_343insC	CCDS55588.1																																																																																				0.614	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			11	191						11	191	---	---	---	---
ZMYND12	84217	broad.mit.edu	37	1	42898878	42898879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:42898878_42898879insG	ENST00000372565.3	-	7	1179_1180	c.910_911insC	c.(910-912)caafs	p.Q304fs	ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.Q194fs	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	304						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATGGTTTTTTGGGGGGCTTTG	0.411																																						ENST00000372565.3																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17						c.(910-912)aaafs		zinc finger, MYND-type containing 12																																				SO:0001589	frameshift_variant	84217					intracellular	zinc ion binding	g.chr1:42898878_42898879insG	AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.911dupC	1.37:g.42898884_42898884dupG	ENSP00000361646:p.Gln304fs		Somatic				ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.K194fs	p.K304fs	NM_032257.4	NP_115633.3	WXS	Illumina GAIIx	Phase_I	Q9H0C1	ZMY12_HUMAN			7	1179_1180	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	304					Q5VUS6|Q8TC87|Q96M51	Frame_Shift_Ins	INS	ENST00000372565.3	37	c.910_911insC	CCDS467.1																																																																																				0.411	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257		9	489						9	489	---	---	---	---
LRRC41	10489	broad.mit.edu	37	1	46751494	46751495	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:46751494_46751495insG	ENST00000343304.6	-	4	1319_1320	c.1034_1035insC	c.(1033-1035)ccafs	p.P345fs	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	345					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGGAGGTGGCTGGGGGGTGCAG	0.619																																						ENST00000343304.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(1033-1035)cgcfs		leucine rich repeat containing 41																																				SO:0001589	frameshift_variant	10489							g.chr1:46751494_46751495insG	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.1035dupC	1.37:g.46751500_46751500dupG	ENSP00000343298:p.Pro345fs		Somatic				LRRC41_ENST00000472710.1_5'UTR	p.R345fs	NM_006369.4	NP_006360.3	WXS	Illumina GAIIx	Phase_I	Q15345	LRC41_HUMAN			4	1319_1320	-	Acute lymphoblastic leukemia(166;0.155)		345					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Frame_Shift_Ins	INS	ENST00000343304.6	37	c.1034_1035insC	CCDS533.1																																																																																				0.619	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		7	237						7	237	---	---	---	---
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G	rs371885641		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)cccactfs	p.T118fs	FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.T118fs|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594																																						ENST00000302250.2																			1	Deletion - Frameshift(1)	p.T118fs*43(1)	ovary(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(349-354)ccctatfs		family with sequence similarity 151, member A			,	13,4253		0,13,2120					,	3.2	0.2			92	8,8246		0,8,4119	no	frameshift,intron	ACOT11,FAM151A	NM_176782.2,NM_015547.3	,	0,21,6239	A1A1,A1R,RR		0.0969,0.3047,0.1677	,	,		21,12499				SO:0001589	frameshift_variant	338094					integral to membrane		g.chr1:55081756_55081757insG	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.352dupC	1.37:g.55081763_55081763dupG	ENSP00000306888:p.Thr118fs		Somatic				FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs|ACOT11_ENST00000371316.3_Intron	p.Y118fs	NM_176782.2	NP_788954.2	WXS	Illumina GAIIx	Phase_I	Q8WW52	F151A_HUMAN			3	511_512	-			118					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Frame_Shift_Ins	INS	ENST00000302250.2	37	c.351_352insC	CCDS594.1																																																																																				0.594	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		12	264						12	264	---	---	---	---
DAB1	1600	broad.mit.edu	37	1	57491653	57491654	+	Splice_Site	INS	-	-	G	rs138352976|rs201318657		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:57491653_57491654insG	ENST00000371231.1	-	11	919_920		c.e11+1		DAB1_ENST00000439789.2_Splice_Site|DAB1_ENST00000414851.2_Splice_Site|DAB1_ENST00000420954.2_Splice_Site|DAB1_ENST00000371236.2_Splice_Site|DAB1_ENST00000371234.4_Splice_Site|DAB1_ENST00000485760.1_Splice_Site			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)						adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TGCATACTTACGGGGGGAGAGG	0.465																																						ENST00000371236.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						c.e10+1		Dab, reelin signal transducer, homolog 1 (Drosophila)																																				SO:0001630	splice_region_variant	1600				cell differentiation|nervous system development			g.chr1:57491653_57491654insG	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.885+1->C	1.37:g.57491659_57491659dupG			Somatic				DAB1_ENST00000420954.2_Splice_Site|DAB1_ENST00000414851.2_Splice_Site|DAB1_ENST00000371231.1_Splice_Site|DAB1_ENST00000439789.2_Splice_Site|DAB1_ENST00000485760.1_Splice_Site|DAB1_ENST00000371234.4_Splice_Site				WXS	Illumina GAIIx	Phase_I	O75553	DAB1_HUMAN			10	1049_1050	-								A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Splice_Site	INS	ENST00000371231.1	37																																																																																						0.465	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080	Intron	11	576						11	576	---	---	---	---
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779|rs183693555	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:59812016_59812017insG	ENST00000303721.7	+	4	585_586	c.411_412insG	c.(412-414)gggfs	p.G138fs	FGGY_ENST00000371212.1_Intron|FGGY_ENST00000371218.4_Frame_Shift_Ins_p.G138fs|FGGY_ENST00000474476.1_3'UTR	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	138					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.5																																						ENST00000371218.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(409-414)gtggggfs		FGGY carbohydrate kinase domain containing																																				SO:0001589	frameshift_variant	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:59812016_59812017insG		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.418dupG	1.37:g.59812023_59812023dupG	ENSP00000305922:p.Gly138fs		Somatic				FGGY_ENST00000371212.1_Intron|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs	p.VG137fs	NM_001113411.1	NP_001106882.1	WXS	Illumina GAIIx	Phase_I	Q96C11	FGGY_HUMAN			4	595_596	+	all_cancers(7;7.36e-05)		137					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Frame_Shift_Ins	INS	ENST00000303721.7	37	c.411_412insG	CCDS611.2																																																																																				0.500	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		16	199						16	199	---	---	---	---
JAK1	3716	broad.mit.edu	37	1	65325832	65325833	+	Frame_Shift_Ins	INS	-	-	G	rs368823178		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:65325832_65325833insG	ENST00000342505.4	-	9	1537_1538	c.1289_1290insC	c.(1288-1290)ccgfs	p.P430fs		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	430					cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|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 phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GGACGATCAACGGGGGGGCCAC	0.54			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(1288-1290)cttfs		Janus kinase 1																																				SO:0001589	frameshift_variant	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65325832_65325833insG	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.1290dupC	1.37:g.65325839_65325839dupG	ENSP00000343204:p.Pro430fs		Somatic					p.L430fs	NM_002227.2	NP_002218.2	WXS	Illumina GAIIx	Phase_I	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	9	1537_1538	-			430					Q59GQ2|Q9UD26	Frame_Shift_Ins	INS	ENST00000342505.4	37	c.1289_1290insC	CCDS41346.1																																																																																				0.540	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		9	174						9	174	---	---	---	---
GBP7	388646	broad.mit.edu	37	1	89613321	89613322	+	Frame_Shift_Ins	INS	-	-	C	rs138127555|rs185821757		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:89613321_89613322insC	ENST00000294671.2	-	8	1431_1432	c.1293_1294insG	c.(1291-1296)gggcacfs	p.H432fs		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	432						membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436																																						ENST00000294671.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1291-1296)ggacaafs		guanylate binding protein 7																																				SO:0001589	frameshift_variant	388646					integral to membrane	GTP binding|GTPase activity	g.chr1:89613321_89613322insC	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.1294dupG	1.37:g.89613328_89613328dupC	ENSP00000294671:p.His432fs		Somatic					p.Q432fs	NM_207398.2	NP_997281.2	WXS	Illumina GAIIx	Phase_I	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)	8	1431_1432	-		Lung NSC(277;0.0908)	432						Frame_Shift_Ins	INS	ENST00000294671.2	37	c.1293_1294insG	CCDS720.1																																																																																				0.436	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		21	232						21	232	---	---	---	---
WDR47	22911	broad.mit.edu	37	1	109553972	109553973	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:109553972_109553973insA	ENST00000369962.3	-	5	917_918	c.695_696insT	c.(694-696)ttafs	p.L232fs	WDR47_ENST00000357672.3_Frame_Shift_Ins_p.L204fs|WDR47_ENST00000369965.4_Frame_Shift_Ins_p.L232fs|WDR47_ENST00000400794.3_Frame_Shift_Ins_p.L239fs|WDR47_ENST00000361054.3_Frame_Shift_Ins_p.L204fs			O94967	WDR47_HUMAN	WD repeat domain 47	232					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CATTACCACATAAGAGGTCGAT	0.391																																						ENST00000357672.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(610-612)ttgfs		WD repeat domain 47																																				SO:0001589	frameshift_variant	22911							g.chr1:109553972_109553973insA	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.696dupT	1.37:g.109553974_109553974dupA	ENSP00000358979:p.Leu232fs		Somatic				WDR47_ENST00000361054.3_Frame_Shift_Ins_p.L204fs|WDR47_ENST00000400794.3_Frame_Shift_Ins_p.L239fs|WDR47_ENST00000369965.4_Frame_Shift_Ins_p.L232fs|WDR47_ENST00000369962.3_Frame_Shift_Ins_p.L232fs	p.L204fs			WXS	Illumina GAIIx	Phase_I	O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	4	986_987	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	232					A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Frame_Shift_Ins	INS	ENST00000369962.3	37	c.611_612insT	CCDS44187.1																																																																																				0.391	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		11	393						11	393	---	---	---	---
OLFML3	56944	broad.mit.edu	37	1	114523958	114523959	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:114523958_114523959insC	ENST00000320334.4	+	3	862_863	c.788_789insC	c.(787-792)atccccfs	p.IP263fs	OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.IP243fs|OLFML3_ENST00000369551.1_Frame_Shift_Ins_p.IP243fs|OLFML3_ENST00000491700.1_3'UTR	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	263	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGGGCTGATCCCCCCCTACG	0.559																																						ENST00000369551.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14						c.(727-729)accfs		olfactomedin-like 3																																				SO:0001589	frameshift_variant	56944				multicellular organismal development	extracellular region		g.chr1:114523958_114523959insC	AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.795dupC	1.37:g.114523965_114523965dupC	ENSP00000322273:p.Ile263fs		Somatic				OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.T243fs|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000320334.4_Frame_Shift_Ins_p.T263fs	p.T243fs			WXS	Illumina GAIIx	Phase_I	Q9NRN5	OLFL3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1016_1017	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	263			Olfactomedin-like.		Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Frame_Shift_Ins	INS	ENST00000320334.4	37	c.728_729insC	CCDS870.1																																																																																				0.559	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033119.1	NM_020190		7	178						7	178	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144922606	144922607	+	Frame_Shift_Del	DEL	AT	AT	-	rs587751928		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:144922606_144922607delAT	ENST00000369354.3	-	7	989_990	c.800_801delAT	c.(799-801)tatfs	p.Y267fs	PDE4DIP_ENST00000369356.4_Frame_Shift_Del_p.Y267fs|PDE4DIP_ENST00000369349.3_Frame_Shift_Del_p.Y267fs|PDE4DIP_ENST00000529945.1_Frame_Shift_Del_p.Y430fs|PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.Y333fs|PDE4DIP_ENST00000479408.2_Frame_Shift_Del_p.Y54fs|PDE4DIP_ENST00000313431.9_Frame_Shift_Del_p.Y430fs|PDE4DIP_ENST00000369351.3_Frame_Shift_Del_p.Y267fs|PDE4DIP_ENST00000530740.1_Frame_Shift_Del_p.Y404fs|PDE4DIP_ENST00000369359.4_Frame_Shift_Del_p.Y404fs			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	267					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACTTTAGTTCATAGCTCATTTC	0.361			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(1288-1290)tfs		phosphodiesterase 4D interacting protein																																				SO:0001589	frameshift_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144922606_144922607delAT	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.800_801delAT	1.37:g.144922606_144922607delAT	ENSP00000358360:p.Tyr267fs		Somatic				PDE4DIP_ENST00000369359.4_Frame_Shift_Del_p.Y404fs|PDE4DIP_ENST00000313431.9_Frame_Shift_Del_p.Y430fs|PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.Y333fs|PDE4DIP_ENST00000369349.3_Frame_Shift_Del_p.Y267fs|PDE4DIP_ENST00000369351.3_Frame_Shift_Del_p.Y267fs|PDE4DIP_ENST00000479408.2_Frame_Shift_Del_p.Y54fs|PDE4DIP_ENST00000369356.4_Frame_Shift_Del_p.Y267fs|PDE4DIP_ENST00000530740.1_Frame_Shift_Del_p.Y404fs|PDE4DIP_ENST00000369354.3_Frame_Shift_Del_p.Y267fs	p.Y430fs			WXS	Illumina GAIIx	Phase_I	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	3	1728_1729	-			267					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Frame_Shift_Del	DEL	ENST00000369354.3	37	c.1289_1290delAT	CCDS30824.1																																																																																				0.361	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		30	508						30	508	---	---	---	---
PIAS3	10401	broad.mit.edu	37	1	145585532	145585533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:145585532_145585533insG	ENST00000393045.2	+	14	1887_1888	c.1797_1798insG	c.(1798-1800)gggfs	p.G600fs	NUDT17_ENST00000444015.2_5'Flank|PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.G565fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	600					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGTGGCCCCTGGGGGGGCCTT	0.663																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1795-1800)ccggggfs		protein inhibitor of activated STAT, 3				11,4249		0,11,2119						4.1	1.0			46	12,8224		0,12,4106	no	frameshift	PIAS3	NM_006099.3		0,23,6225	A1A1,A1R,RR		0.1457,0.2582,0.1841				23,12473				SO:0001589	frameshift_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145585532_145585533insG	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1804dupG	1.37:g.145585539_145585539dupG	ENSP00000376765:p.Gly600fs		Somatic				PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.PG564fs	p.PG599fs	NM_006099.3	NP_006090.2	WXS	Illumina GAIIx	Phase_I	Q9Y6X2	PIAS3_HUMAN			14	1887_1888	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		599					Q9UFI3	Frame_Shift_Ins	INS	ENST00000393045.2	37	c.1797_1798insG	CCDS920.2																																																																																				0.663	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		10	139						10	139	---	---	---	---
RFX5	5993	broad.mit.edu	37	1	151318740	151318741	+	Frame_Shift_Ins	INS	-	-	G	rs548049340		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:151318740_151318741insG	ENST00000290524.4	-	3	234_235	c.56_57insC	c.(55-57)ccafs	p.P19fs	RFX5_ENST00000368870.2_Frame_Shift_Ins_p.P19fs|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.P19fs|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.P19fs|RP11-126K1.6_ENST00000455503.1_RNA|RFX5_ENST00000478564.1_5'UTR	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	19					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)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCACCACCTGGGGGGGCCCT	0.554																																						ENST00000290524.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(55-57)cggfs		regulatory factor X, 5 (influences HLA class II expression)																																				SO:0001589	frameshift_variant	5993					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:151318740_151318741insG		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.57dupC	1.37:g.151318747_151318747dupG	ENSP00000290524:p.Pro19fs		Somatic				RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000368870.2_Frame_Shift_Ins_p.R19fs	p.R19fs	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	WXS	Illumina GAIIx	Phase_I	P48382	RFX5_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		3	234_235	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		19					B7Z848|D3DV19|E9PFU4|Q5VWC3	Frame_Shift_Ins	INS	ENST00000290524.4	37	c.56_57insC	CCDS994.1																																																																																				0.554	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		13	285						13	285	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152325784	152325789	+	In_Frame_Del	DEL	GTACTG	GTACTG	-	rs372135291		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:152325784_152325789delGTACTG	ENST00000388718.5	-	3	4545_4550	c.4473_4478delCAGTAC	c.(4471-4479)tccagtaca>tca	p.ST1492del	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1492					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)			TCTTCCAGTTGTACTGGACCCTCTCT	0.524																																						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.(4471-4479)tca>tc		filaggrin family member 2																																				SO:0001651	inframe_deletion	388698						calcium ion binding|structural molecule activity	g.chr1:152325784_152325789delGTACTG	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.4473_4478delCAGTAC	1.37:g.152325784_152325789delGTACTG	ENSP00000373370:p.Ser1492_Thr1493del		Somatic				FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.SST1491del	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4545_4550	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1491					Q9H4U1	In_Frame_Del	DEL	ENST00000388718.5	37	c.4473_4478delCAGTAC	CCDS30861.1																																																																																				0.524	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		7	803						7	803	---	---	---	---
SLC39A1	27173	broad.mit.edu	37	1	153934780	153934781	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:153934780_153934781insC	ENST00000368623.3	-	2	992_993	c.233_234insG	c.(232-234)ggcfs	p.G78fs	SLC39A1_ENST00000356205.4_Frame_Shift_Ins_p.G78fs|SLC39A1_ENST00000310483.6_Frame_Shift_Ins_p.G78fs|SLC39A1_ENST00000461071.1_5'Flank|SLC39A1_ENST00000537590.1_Intron|SLC39A1_ENST00000368621.1_Frame_Shift_Ins_p.G78fs			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	78					cation transport (GO:0006812)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic cation transmembrane transporter activity (GO:0022890)|zinc ion transmembrane transporter activity (GO:0005385)			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		CCAAAAAGACGCCCCCCGCGAA	0.614																																						ENST00000368623.3																			0				kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12						c.(232-234)ggtfs		solute carrier family 39 (zinc transporter), member 1																																				SO:0001589	frameshift_variant	27173					endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity	g.chr1:153934780_153934781insC	BC007886	CCDS1055.1, CCDS72920.1	1q21	2013-05-22		2002-02-15	ENSG00000143570	ENSG00000143570		"""Solute carriers"""	12876	protein-coding gene	gene with protein product		604740	"""zinc/iron regulated transporter-like"""	ZIRTL		10610721, 10681536	Standard	NM_014437		Approved	ZIP1	uc031ppi.1	Q9NY26	OTTHUMG00000037158	ENST00000368623.3:c.234dupG	1.37:g.153934786_153934786dupC	ENSP00000357612:p.Gly78fs		Somatic				SLC39A1_ENST00000368621.1_Frame_Shift_Ins_p.G78fs|SLC39A1_ENST00000537590.1_Intron|SLC39A1_ENST00000310483.6_Frame_Shift_Ins_p.G78fs|SLC39A1_ENST00000356205.4_Frame_Shift_Ins_p.G78fs	p.G78fs			WXS	Illumina GAIIx	Phase_I	Q9NY26	S39A1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)	2	992_993	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		78					B4DDY7|Q5T4K1|Q8N2H7|Q9BTV0|Q9UBI7|Q9Y2Z7|Q9Y380	Frame_Shift_Ins	INS	ENST00000368623.3	37	c.233_234insG	CCDS1055.1																																																																																				0.614	SLC39A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090284.1	NM_014437		7	159						7	159	---	---	---	---
HAX1	10456	broad.mit.edu	37	1	154246356	154246357	+	Frame_Shift_Ins	INS	-	-	G	rs200778148		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:154246356_154246357insG	ENST00000328703.7	+	3	636_637	c.423_424insG	c.(424-426)gggfs	p.G142fs	HAX1_ENST00000483970.2_Frame_Shift_Ins_p.G150fs|HAX1_ENST00000457918.2_Frame_Shift_Ins_p.G94fs|HAX1_ENST00000532105.1_Frame_Shift_Ins_p.G14fs	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	142	Involved in HCLS1 binding.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCAGGATCTTTGGGGGGGTCTT	0.554									Kostmann syndrome																													ENST00000328703.7																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(421-426)ttggggfs		HCLS1 associated protein X-1																																				SO:0001589	frameshift_variant	10456	Kostmann syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154246356_154246357insG	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.430dupG	1.37:g.154246363_154246363dupG	ENSP00000329002:p.Gly142fs		Somatic				HAX1_ENST00000457918.2_Frame_Shift_Ins_p.LG93fs|HAX1_ENST00000532105.1_Frame_Shift_Ins_p.LG13fs|HAX1_ENST00000483970.2_Frame_Shift_Ins_p.LG149fs	p.LG141fs	NM_006118.3	NP_006109.2	WXS	Illumina GAIIx	Phase_I	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		3	636_637	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		141		F -> L (in SCN3; mild form).	Involved in HCLS1 binding.		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Frame_Shift_Ins	INS	ENST00000328703.7	37	c.423_424insG	CCDS1064.1																																																																																				0.554	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		13	227						13	227	---	---	---	---
TDRD10	126668	broad.mit.edu	37	1	154493907	154493908	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:154493907_154493908insC	ENST00000368480.3	+	6	406_407	c.321_322insC	c.(322-324)cccfs	p.P108fs	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368482.4_Frame_Shift_Ins_p.P108fs			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	108							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAAGCAAAAGGCCCCCCAAGAG	0.52																																						ENST00000368482.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(319-324)agccccfs		tudor domain containing 10																																				SO:0001589	frameshift_variant	126668						nucleotide binding|RNA binding	g.chr1:154493907_154493908insC	AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.327dupC	1.37:g.154493913_154493913dupC	ENSP00000357465:p.Pro108fs		Somatic				TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Frame_Shift_Ins_p.SP107fs	p.SP107fs	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	WXS	Illumina GAIIx	Phase_I	Q5VZ19	TDR10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		6	1159_1160	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		107			RRM.		A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Frame_Shift_Ins	INS	ENST00000368480.3	37	c.321_322insC	CCDS41406.1																																																																																				0.520	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499		11	638						11	638	---	---	---	---
OR10Z1	128368	broad.mit.edu	37	1	158576486	158576487	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:158576486_158576487insG	ENST00000361284.1	+	1	258_259	c.258_259insG	c.(259-261)gggfs	p.G87fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTGGCCTGGCTGGGGGGGACCA	0.554																																						ENST00000361284.1																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(256-261)gcggggfs		olfactory receptor, family 10, subfamily Z, member 1																																				SO:0001589	frameshift_variant	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576486_158576487insG	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.265dupG	1.37:g.158576493_158576493dupG	ENSP00000354707:p.Gly87fs		Somatic					p.AG86fs	NM_001004478.1	NP_001004478.1	WXS	Illumina GAIIx	Phase_I	Q8NGY1	O10Z1_HUMAN			1	258_259	+	all_hematologic(112;0.0378)		86					Q5VYL0|Q6IFR7	Frame_Shift_Ins	INS	ENST00000361284.1	37	c.258_259insG	CCDS30901.1																																																																																				0.554	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		21	868						21	868	---	---	---	---
IGSF9	57549	broad.mit.edu	37	1	159904586	159904587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:159904586_159904587insG	ENST00000368094.1	-	7	896_897	c.699_700insC	c.(697-702)cccaagfs	p.K234fs	IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.K234fs|IGSF9_ENST00000493195.1_5'Flank	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	234	Ig-like 3.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGCTGTTCTTGGGGGGCACCA	0.569																																						ENST00000368094.1																			0				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(697-702)ccagaafs		immunoglobulin superfamily, member 9																																				SO:0001589	frameshift_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159904586_159904587insG	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.700dupC	1.37:g.159904592_159904592dupG	ENSP00000357073:p.Lys234fs		Somatic				IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.E234fs	p.E234fs	NM_001135050.1	NP_001128522.1	WXS	Illumina GAIIx	Phase_I	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		7	896_897	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	234			Ig-like 3.			Frame_Shift_Ins	INS	ENST00000368094.1	37	c.699_700insC	CCDS44254.1																																																																																				0.569	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		7	252						7	252	---	---	---	---
ADCY10	55811	broad.mit.edu	37	1	167778957	167778958	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:167778957_167778958insT	ENST00000367851.4	-	33	4974_4975	c.4790_4791insA	c.(4789-4791)aacfs	p.N1597fs	ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.N1444fs|ADCY10_ENST00000367848.1_Frame_Shift_Ins_p.N1505fs	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1597					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TCAGGAATTTGTTTTTTTGAAG	0.351																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(4513-4515)aaafs		adenylate cyclase 10 (soluble)																																				SO:0001589	frameshift_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167778957_167778958insT	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.4791dupA	1.37:g.167778964_167778964dupT	ENSP00000356825:p.Asn1597fs		Somatic				ADCY10_ENST00000367851.4_Frame_Shift_Ins_p.K1597fs|ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.K1444fs|ADCY10_ENST00000485964.1_5'UTR	p.K1505fs			WXS	Illumina GAIIx	Phase_I	Q96PN6	ADCYA_HUMAN			33	5011_5012	-			1597					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Frame_Shift_Ins	INS	ENST00000367851.4	37	c.4514_4515insA	CCDS1265.1																																																																																				0.351	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		8	390						8	390	---	---	---	---
ADCY10	55811	broad.mit.edu	37	1	167865905	167865906	+	Frame_Shift_Ins	INS	-	-	G	rs35604923		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:167865905_167865906insG	ENST00000367851.4	-	7	850_851	c.666_667insC	c.(664-669)cccaatfs	p.N223fs	ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.N70fs|ADCY10_ENST00000367848.1_Frame_Shift_Ins_p.N131fs	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	223					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAATTAAAATTGGGGGGTGGTT	0.332																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(388-393)ccatttfs		adenylate cyclase 10 (soluble)																																				SO:0001589	frameshift_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167865905_167865906insG	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.667dupC	1.37:g.167865911_167865911dupG	ENSP00000356825:p.Asn223fs		Somatic				ADCY10_ENST00000367851.4_Frame_Shift_Ins_p.F223fs|ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.F70fs	p.F131fs			WXS	Illumina GAIIx	Phase_I	Q96PN6	ADCYA_HUMAN			7	887_888	-			223			Guanylate cyclase 1.		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Frame_Shift_Ins	INS	ENST00000367851.4	37	c.390_391insC	CCDS1265.1																																																																																				0.332	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		9	527						9	527	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176563963	176563964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:176563963_176563964insG	ENST00000367662.3	+	3	2387_2388	c.1223_1224insG	c.(1222-1227)ctggggfs	p.LG408fs	PAPPA2_ENST00000367661.3_Frame_Shift_Ins_p.LG408fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	408					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L408fs*49(2)|p.L408L(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCTTTGCTCCTGGGGGGAGACA	0.574																																						ENST00000367662.3																			4	Deletion - Frameshift(2)|Substitution - coding silent(2)	p.L408fs*49(2)|p.L408L(2)	lung(4)	NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(1222-1224)cggfs		pappalysin 2																																				SO:0001589	frameshift_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176563963_176563964insG	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1229dupG	1.37:g.176563969_176563969dupG	ENSP00000356634:p.Leu408fs		Somatic				PAPPA2_ENST00000367661.3_Frame_Shift_Ins_p.R408fs	p.R408fs	NM_020318.2	NP_064714.2	WXS	Illumina GAIIx	Phase_I	Q9BXP8	PAPP2_HUMAN			3	2387_2388	+			408					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Frame_Shift_Ins	INS	ENST00000367662.3	37	c.1223_1224insG	CCDS41438.1																																																																																				0.574	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			8	324						8	324	---	---	---	---
FAM129A	116496	broad.mit.edu	37	1	184765130	184765131	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:184765130_184765131insG	ENST00000367511.3	-	14	1960_1961	c.1767_1768insC	c.(1765-1770)cccacafs	p.T590fs	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	590					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TTTGACCCTGTGGGGGGCTTTA	0.49																																						ENST00000367511.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(1765-1770)cccaggfs		family with sequence similarity 129, member A																																				SO:0001589	frameshift_variant	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184765130_184765131insG	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1768dupC	1.37:g.184765136_184765136dupG	ENSP00000356481:p.Thr590fs		Somatic				FAM129A_ENST00000487074.1_5'UTR	p.R590fs	NM_052966.2	NP_443198.1	WXS	Illumina GAIIx	Phase_I	Q9BZQ8	NIBAN_HUMAN			14	1960_1961	-			590					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Frame_Shift_Ins	INS	ENST00000367511.3	37	c.1767_1768insC	CCDS1364.1																																																																																				0.490	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			7	248						7	248	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186022084	186022085	+	Splice_Site	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:186022084_186022085insC	ENST00000271588.4	+	43	6807_6808	c.6578_6579insC	c.(6577-6582)gtcccc>gtCcccc	p.VP2193fs	HMCN1_ENST00000367492.2_Splice_Site_p.VP2193fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2193					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTTTTTCTAGTCCCCCCAAATA	0.342																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.e43-1		hemicentin 1																																				SO:0001630	splice_region_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186022084_186022085insC	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6578-1->C	1.37:g.186022090_186022090dupC			Somatic				HMCN1_ENST00000367492.2_Splice_Site_p.A2193_splice	p.A2193_splice	NM_031935.2	NP_114141.2	WXS	Illumina GAIIx	Phase_I	Q96RW7	HMCN1_HUMAN			43	6807_6808	+			2193					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	INS	ENST00000271588.4	37	c.6577_splice	CCDS30956.1																																																																																				0.342	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Frame_Shift_Ins	7	212						7	212	---	---	---	---
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-258)atccccfs	p.IP85fs	ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.IP85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	85					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACAACGTGATCCCCCCCAAAA	0.48																																						ENST00000357681.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.(253-255)accfs		ATPase, Ca++ transporting, plasma membrane 4																																				SO:0001589	frameshift_variant	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203667345_203667346insC	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.261dupC	1.37:g.203667352_203667352dupC	ENSP00000350310:p.Ile85fs		Somatic				ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs	p.T85fs	NM_001684.4	NP_001675.3	WXS	Illumina GAIIx	Phase_I	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		3	1377_1378	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		85					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Frame_Shift_Ins	INS	ENST00000357681.5	37	c.254_255insC	CCDS1440.1																																																																																				0.480	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		10	194						10	194	---	---	---	---
PIK3C2B	5287	broad.mit.edu	37	1	204438071	204438072	+	Frame_Shift_Ins	INS	-	-	G	rs115574296		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:204438071_204438072insG	ENST00000367187.3	-	3	1415_1416	c.859_860insC	c.(859-861)cgcfs	p.R287fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.R287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	287	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)	p.R287fs*92(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGCATAGGTGCGGGGGGGCACC	0.624																																						ENST00000367187.3																			1	Deletion - Frameshift(1)	p.R287fs*92(1)	lung(1)	breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(859-861)cacfs		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta																																				SO:0001589	frameshift_variant	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204438071_204438072insG	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.860dupC	1.37:g.204438078_204438078dupG	ENSP00000356155:p.Arg287fs		Somatic				PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.H287fs	p.H287fs	NM_002646.3	NP_002637.3	WXS	Illumina GAIIx	Phase_I	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		3	1415_1416	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		287			Interaction with GRB2.		O95666|Q5SW99	Frame_Shift_Ins	INS	ENST00000367187.3	37	c.859_860insC	CCDS1446.1																																																																																				0.624	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		25	285						25	285	---	---	---	---
NFASC	23114	broad.mit.edu	37	1	204924032	204924033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:204924032_204924033insC	ENST00000401399.1	+	6	687_688	c.488_489insC	c.(487-492)aaccccfs	p.NP163fs	NFASC_ENST00000404076.1_Frame_Shift_Ins_p.NP157fs|NFASC_ENST00000404907.1_Frame_Shift_Ins_p.NP157fs|NFASC_ENST00000513543.1_Frame_Shift_Ins_p.NP157fs|NFASC_ENST00000403080.1_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000367170.4_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000339876.6_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000360049.4_Frame_Shift_Ins_p.NP157fs|NFASC_ENST00000367169.4_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000367171.4_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000338515.6_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000367172.4_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000539706.1_Frame_Shift_Ins_p.NP157fs|NFASC_ENST00000338586.6_Frame_Shift_Ins_p.NP163fs			O94856	NFASC_HUMAN	neurofascin	163	Ig-like C2-type 2.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.P159fs*12(1)|p.P165fs*12(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTCCAGTGCAACCCCCCGCCTG	0.559																																						ENST00000367172.4																			2	Deletion - Frameshift(2)	p.P159fs*12(1)|p.P165fs*12(1)	large_intestine(2)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(487-489)accfs		neurofascin																																				SO:0001589	frameshift_variant	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204924032_204924033insC	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.494dupC	1.37:g.204924038_204924038dupC	ENSP00000385637:p.Asn163fs		Somatic				NFASC_ENST00000404076.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000338515.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000513543.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000404907.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000401399.1_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000367171.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000403080.1_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000367170.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000367169.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000339876.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000338586.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000539706.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000360049.4_Frame_Shift_Ins_p.T157fs	p.T163fs			WXS	Illumina GAIIx	Phase_I	O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		7	816_817	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		163			Ig-like C2-type 2.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Frame_Shift_Ins	INS	ENST00000401399.1	37	c.488_489insC	CCDS53460.1																																																																																				0.559	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		7	464						7	464	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:207642043_207642044insC	ENST00000367058.3	+	3	806_807	c.617_618insC	c.(616-621)gtccccfs	p.VP206fs	CR2_ENST00000367059.3_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367057.3_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.VP206fs	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396																																						ENST00000367057.3																			1	Deletion - Frameshift(1)	p.T209fs*10(1)	breast(1)	NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(616-618)gccfs		complement component (3d/Epstein Barr virus) receptor 2																																				SO:0001589	frameshift_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207642043_207642044insC	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.624dupC	1.37:g.207642050_207642050dupC	ENSP00000356025:p.Val206fs		Somatic				CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs	p.A206fs	NM_001006658.2	NP_001006659.1	WXS	Illumina GAIIx	Phase_I	P20023	CR2_HUMAN			3	806_807	+			206			Sushi 3.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Frame_Shift_Ins	INS	ENST00000367058.3	37	c.617_618insC	CCDS1478.1																																																																																				0.396	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		18	484						18	484	---	---	---	---
DIEXF	27042	broad.mit.edu	37	1	210014266	210014267	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:210014266_210014267insC	ENST00000491415.2	+	8	1408_1409	c.1351_1352insC	c.(1351-1353)tccfs	p.S451fs		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	451					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						CCTCATTGCTTCCCCCCTGGGC	0.465																																						ENST00000491415.2																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						c.(1351-1353)cccfs		digestive organ expansion factor homolog (zebrafish)																																				SO:0001589	frameshift_variant	27042				multicellular organismal development	nucleus		g.chr1:210014266_210014267insC	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.1357dupC	1.37:g.210014272_210014272dupC	ENSP00000419005:p.Ser451fs		Somatic					p.P451fs	NM_014388.6	NP_055203.4	WXS	Illumina GAIIx	Phase_I	Q68CQ4	DIEXF_HUMAN			8	1408_1409	+			451					O75992|Q4VY00|Q63HL9	Frame_Shift_Ins	INS	ENST00000491415.2	37	c.1351_1352insC	CCDS1493.1																																																																																				0.465	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		7	345						7	345	---	---	---	---
ARV1	64801	broad.mit.edu	37	1	231131566	231131567	+	Frame_Shift_Ins	INS	-	-	A	rs544784472	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:231131566_231131567insA	ENST00000310256.2	+	4	566_567	c.509_510insA	c.(508-513)gcaaaafs	p.AK170fs	ARV1_ENST00000497753.1_3'UTR|ARV1_ENST00000366658.2_Frame_Shift_Ins_p.AK130fs	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	170					bile acid metabolic process (GO:0008206)|cholesterol transport (GO:0030301)|regulation of cholesterol metabolic process (GO:0090181)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		CCCATGACGGCAAAAAAAAAGC	0.381													GAAAAAAAA|AAAAAAAAA|AAAAAAAAAA|complex_insertion	4	0.000798722	0.0	0.0	5008	,	,		16943	0.001		0.001	False		,,,				2504	0.002					ENST00000310256.2																			0				breast(3)|large_intestine(2)|lung(2)	7						c.(508-510)gaafs		ARV1 homolog (S. cerevisiae)				6,4260		0,6,2127						-1.7	0.0			80	7,8247		0,7,4120	no	frameshift	ARV1	NM_022786.1		0,13,6247	A1A1,A1R,RR		0.0848,0.1406,0.1038				13,12507				SO:0001589	frameshift_variant	64801				sphingolipid metabolic process	integral to membrane		g.chr1:231131566_231131567insA	AF271780	CCDS1589.1	1q42.2	2014-02-03	2006-04-04		ENSG00000173409	ENSG00000173409			29561	protein-coding gene	gene with protein product		611647	"""ARV1 homolog (yeast)"""			11063737, 12145310, 20663892	Standard	NM_022786		Approved		uc001huh.3	Q9H2C2	OTTHUMG00000037837	ENST00000310256.2:c.518dupA	1.37:g.231131575_231131575dupA	ENSP00000312458:p.Ala170fs		Somatic				ARV1_ENST00000497753.1_3'UTR|ARV1_ENST00000366658.2_Frame_Shift_Ins_p.E130fs	p.E170fs	NM_022786.1	NP_073623.1	WXS	Illumina GAIIx	Phase_I	Q9H2C2	ARV1_HUMAN		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)	4	566_567	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	170					A8KAI4|Q5VSN7|Q5VSN8|Q5VSN9|Q5VSP0|Q5VSP2|Q9H2H2|Q9H5V6|Q9UFF5	Frame_Shift_Ins	INS	ENST00000310256.2	37	c.509_510insA	CCDS1589.1																																																																																				0.381	ARV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092362.2	NM_022786		7	158						7	158	---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232650637	232650638	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:232650637_232650638insG	ENST00000366630.1	-	2	806_807	c.448_449insC	c.(448-450)caafs	p.Q150fs	SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.Q150fs			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	150					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AAGTCCTCTTTGGGGGGAATGG	0.49																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(448-450)aagfs		signal-induced proliferation-associated 1 like 2																																				SO:0001589	frameshift_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232650637_232650638insG	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.449dupC	1.37:g.232650643_232650643dupG	ENSP00000355589:p.Gln150fs		Somatic				SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.K150fs	p.K150fs			WXS	Illumina GAIIx	Phase_I	Q9P2F8	SI1L2_HUMAN			2	806_807	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	150					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Frame_Shift_Ins	INS	ENST00000366630.1	37	c.448_449insC	CCDS41474.1																																																																																				0.490	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		7	431						7	431	---	---	---	---
VSNL1	7447	broad.mit.edu	37	2	17773439	17773440	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:17773439_17773440insAT	ENST00000406397.1	+	2	623_624	c.98_99insAT	c.(97-102)ggatttfs	p.F34fs	VSNL1_ENST00000404666.2_Frame_Shift_Ins_p.F34fs|VSNL1_ENST00000295156.4_Frame_Shift_Ins_p.F34fs			P62760	VISL1_HUMAN	visinin-like 1	34	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium-mediated signaling (GO:0019722)		calcium ion binding (GO:0005509)	p.G33E(1)		NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGGTACAAAGGATTTCTCAAGG	0.45																																						ENST00000406397.1																			1	Substitution - Missense(1)	p.G33E(1)	skin(1)	NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13						c.(97-99)gttfs		visinin-like 1																																				SO:0001589	frameshift_variant	7447						calcium ion binding	g.chr2:17773439_17773440insAT		CCDS1689.1	2p24.3	2013-01-10			ENSG00000163032	ENSG00000163032		"""EF-hand domain containing"""	12722	protein-coding gene	gene with protein product	"""hippocalcin-like protein 3"""	600817				8530085, 2202488	Standard	NM_003385		Approved	VILIP, HPCAL3, HUVISL1, HLP3, VILIP-1	uc002rcm.3	P62760	OTTHUMG00000090645	ENST00000406397.1:c.99_100dupAT	2.37:g.17773440_17773441dupAT	ENSP00000384719:p.Phe34fs		Somatic				VSNL1_ENST00000295156.4_Frame_Shift_Ins_p.V33fs|VSNL1_ENST00000404666.2_Frame_Shift_Ins_p.V33fs	p.V33fs			WXS	Illumina GAIIx	Phase_I	P62760	VISL1_HUMAN			2	623_624	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		33			EF-hand 1.		D6W515|P28677|P29103|P42323|Q9UM20	Frame_Shift_Ins	INS	ENST00000406397.1	37	c.98_99insAT	CCDS1689.1																																																																																				0.450	VSNL1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323803.1	NM_003385		14	514						14	514	---	---	---	---
APOB	338	broad.mit.edu	37	2	21228306	21228307	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:21228306_21228307insA	ENST00000233242.1	-	26	11560_11561	c.11433_11434insT	c.(11431-11436)tttgagfs	p.E3812fs		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3812					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGGTTATCTCAAAAAAGGGAA	0.426																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	GRCh37	CI076929	APOB	I		c.(11431-11436)ttagatfs		apolipoprotein B	Atorvastatin(DB01076)																																			SO:0001589	frameshift_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21228306_21228307insA	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11434dupT	2.37:g.21228312_21228312dupA	ENSP00000233242:p.Glu3812fs		Somatic					p.LD3811fs	NM_000384.2	NP_000375.2	WXS	Illumina GAIIx	Phase_I	P04114	APOB_HUMAN			26	11560_11561	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3811					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Frame_Shift_Ins	INS	ENST00000233242.1	37	c.11433_11434insT	CCDS1703.1																																																																																				0.426	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			7	443						7	443	---	---	---	---
IFT172	26160	broad.mit.edu	37	2	27688717	27688718	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:27688717_27688718insC	ENST00000260570.3	-	17	1827_1828	c.1724_1725insG	c.(1723-1725)ggafs	p.G575fs		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	575					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CCTCGGTCTTTCCCCCGCCCCG	0.475																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(1723-1725)gaafs		intraflagellar transport 172 homolog (Chlamydomonas)																																				SO:0001589	frameshift_variant	26160				cilium assembly	cilium	binding	g.chr2:27688717_27688718insC	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.1725dupG	2.37:g.27688722_27688722dupC	ENSP00000260570:p.Gly575fs		Somatic					p.E575fs	NM_015662.1	NP_056477.1	WXS	Illumina GAIIx	Phase_I	Q9UG01	IF172_HUMAN			17	1827_1828	-	Acute lymphoblastic leukemia(172;0.155)		575					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Frame_Shift_Ins	INS	ENST00000260570.3	37	c.1724_1725insG	CCDS1755.1																																																																																				0.475	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		10	831						10	831	---	---	---	---
TET3	200424	broad.mit.edu	37	2	74329151	74329152	+	Frame_Shift_Ins	INS	-	-	G	rs190925009	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:74329151_74329152insG	ENST00000409262.3	+	9	4831_4832	c.4831_4832insG	c.(4831-4833)tggfs	p.W1611fs		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1611					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAAGCGCAAGTGGGGGGGCACT	0.688																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(4831-4833)gggfs		tet methylcytosine dioxygenase 3				17,3831		0,17,1907						5.2	1.0			13	13,7927		0,13,3957	no	frameshift	TET3	NM_144993.1		0,30,5864	A1A1,A1R,RR		0.1637,0.4418,0.2545				30,11758				SO:0001589	frameshift_variant	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74329151_74329152insG		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.4838dupG	2.37:g.74329158_74329158dupG	ENSP00000386869:p.Trp1611fs		Somatic					p.G1611fs	NM_144993.1	NP_659430.1	WXS	Illumina GAIIx	Phase_I	O43151	TET3_HUMAN			9	4831_4832	+			1611					A6NEI3|Q86Z24|Q8TBM9	Frame_Shift_Ins	INS	ENST00000409262.3	37	c.4831_4832insG	CCDS46339.1																																																																																				0.688	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			9	55						9	55	---	---	---	---
HK2	3099	broad.mit.edu	37	2	75104377	75104378	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:75104377_75104378insG	ENST00000290573.2	+	8	1560_1561	c.960_961insG	c.(961-963)gggfs	p.G321fs	HK2_ENST00000409174.1_Frame_Shift_Ins_p.G293fs	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	321	Hexokinase type-2 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						AGCTGCTCTTTGGGGGGAAGCT	0.545																																						ENST00000290573.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(958-963)ttggggfs		hexokinase 2																																				SO:0001589	frameshift_variant	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75104377_75104378insG		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.966dupG	2.37:g.75104383_75104383dupG	ENSP00000290573:p.Gly321fs		Somatic				HK2_ENST00000409174.1_Frame_Shift_Ins_p.LG292fs	p.LG320fs	NM_000189.4	NP_000180.2	WXS	Illumina GAIIx	Phase_I	P52789	HXK2_HUMAN			8	1560_1561	+			320			Regulatory.		D6W5J2|Q8WU87|Q9UN82	Frame_Shift_Ins	INS	ENST00000290573.2	37	c.960_961insG	CCDS1956.1																																																																																				0.545	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		10	603						10	603	---	---	---	---
RAB6C	84084	broad.mit.edu	37	2	130738387	130738388	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:130738387_130738388insT	ENST00000410061.2	+	1	1153_1154	c.699_700insT	c.(700-702)ttgfs	p.L234fs	AC079776.7_ENST00000412425.1_RNA	NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	234					cell cycle process (GO:0022402)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of centrosome duplication (GO:0010824)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					TGAATATTGGCTTGAACCTTTT	0.45																																						ENST00000410061.2																			0				large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5						c.(697-702)ggtgaafs		RAB6C, member RAS oncogene family																																				SO:0001589	frameshift_variant	84084				protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity	g.chr2:130738387_130738388insT	AF124200	CCDS46408.1	2q21.1	2012-07-02			ENSG00000222014	ENSG00000222014		"""RAB, member RAS oncogene"""	16525	protein-coding gene	gene with protein product		612909				11054569, 17426708	Standard	NM_032144		Approved	WTH3	uc002tpx.1	Q9H0N0	OTTHUMG00000153487	ENST00000410061.2:c.701dupT	2.37:g.130738389_130738389dupT	ENSP00000387307:p.Leu234fs		Somatic					p.E234fs	NM_032144.2	NP_115520.2	WXS	Illumina GAIIx	Phase_I	Q9H0N0	RAB6C_HUMAN			1	1153_1154	+	Colorectal(110;0.1)		234					Q53RU3|Q6FIF7|Q9P128	Frame_Shift_Ins	INS	ENST00000410061.2	37	c.699_700insT	CCDS46408.1																																																																																				0.450	RAB6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331384.1	NM_032144		8	419						8	419	---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133541083	133541084	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:133541083_133541084insG	ENST00000409261.1	-	14	3673_3674	c.3300_3301insC	c.(3298-3303)cccaagfs	p.K1101fs	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Ins_p.K1101fs	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1101	Ser-rich.									NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AAGGAAGGCTTGGGGGGTGTGG	0.505																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(3298-3303)ccagccfs		NCK-associated protein 5																																				SO:0001589	frameshift_variant	344148						protein binding	g.chr2:133541083_133541084insG	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3301dupC	2.37:g.133541089_133541089dupG	ENSP00000387128:p.Lys1101fs		Somatic				NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Ins_p.A1101fs|NCKAP5_ENST00000409213.1_Intron	p.A1101fs	NM_207363.2	NP_997246.2	WXS	Illumina GAIIx	Phase_I	O14513	NCKP5_HUMAN			14	3673_3674	-			1101			Ser-rich.		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Frame_Shift_Ins	INS	ENST00000409261.1	37	c.3300_3301insC	CCDS46418.1																																																																																				0.505	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		10	711						10	711	---	---	---	---
RIF1	55183	broad.mit.edu	37	2	152301850	152301851	+	Splice_Site	INS	-	-	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:152301850_152301851insT	ENST00000243326.5	+	18	2469		c.e18-1		RIF1_ENST00000428287.2_Splice_Site|RIF1_ENST00000453091.2_Splice_Site|RIF1_ENST00000430328.2_Splice_Site|RIF1_ENST00000444746.2_Splice_Site			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1						fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TTCTTGTTTTAGACCAATGAAG	0.322																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.e18-1		RAP1 interacting factor homolog (yeast)																																				SO:0001630	splice_region_variant	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152301850_152301851insT	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.1987-1->T	2.37:g.152301850_152301851insT			Somatic				RIF1_ENST00000428287.2_Splice_Site|RIF1_ENST00000453091.2_Splice_Site|RIF1_ENST00000444746.2_Splice_Site|RIF1_ENST00000430328.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	18	2469	+								A0AVS0|Q9NS16	Splice_Site	INS	ENST00000243326.5	37		CCDS2194.1																																																																																				0.322	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3		Intron	17	183						17	183	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2056-2058)gggfs	p.G686fs	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.G464fs|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.G686fs|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	511					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGACATAACTGGGGGGGATGT	0.421																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2053-2058)acggggfs		xin actin-binding repeat containing 2																																				SO:0001589	frameshift_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099957_168099958insG	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2062dupG	2.37:g.168099964_168099964dupG	ENSP00000386840:p.Gly686fs		Somatic				XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000409605.1_Intron	p.TG685fs	NM_152381.5	NP_689594.4	WXS	Illumina GAIIx	Phase_I	A4UGR9	XIRP2_HUMAN			9	2144_2145	+			510					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Frame_Shift_Ins	INS	ENST00000409195.1	37	c.2055_2056insG	CCDS42769.1																																																																																				0.421	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		12	193						12	193	---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:171240258_171240259insC	ENST00000408978.4	+	12	1367_1368	c.1224_1225insC	c.(1225-1227)cccfs	p.P409fs	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.P409fs|MYO3B_ENST00000334231.6_Frame_Shift_Ins_p.P418fs	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	409	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCGCCTCCAATCCCCCCCACAT	0.465																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(1249-1254)aaccccfs		myosin IIIB																																				SO:0001589	frameshift_variant	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171240258_171240259insC		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1231dupC	2.37:g.171240265_171240265dupC	ENSP00000386213:p.Pro409fs		Somatic				MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs	p.NP417fs			WXS	Illumina GAIIx	Phase_I	Q8WXR4	MYO3B_HUMAN			12	1251_1252	+			408			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Frame_Shift_Ins	INS	ENST00000408978.4	37	c.1251_1252insC	CCDS42773.1																																																																																				0.465	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			10	223						10	223	---	---	---	---
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G	rs201174472|rs387906384		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cacfs	p.H206fs	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619																																						ENST00000295108.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	GRCh37	CI992797	NEUROD1	I		c.(616-618)cctfs		neuronal differentiation 1																																				SO:0001589	frameshift_variant	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182542971_182542972insG	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.617dupC	2.37:g.182542978_182542978dupG	ENSP00000295108:p.His206fs		Somatic				CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	p.P206fs	NM_002500.4	NP_002491.2	WXS	Illumina GAIIx	Phase_I	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	1073_1074	-			206					B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Frame_Shift_Ins	INS	ENST00000295108.3	37	c.616_617insC	CCDS2283.1																																																																																				0.619	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		14	230						14	230	---	---	---	---
ALS2	57679	broad.mit.edu	37	2	202588159	202588160	+	Frame_Shift_Ins	INS	-	-	C	rs41309046	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:202588159_202588160insC	ENST00000264276.6	-	22	3889_3890	c.3517_3518insG	c.(3517-3519)gaafs	p.E1173fs	ALS2_ENST00000457679.2_Frame_Shift_Ins_p.E485fs	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1173					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						CATATACTTTTCCCCCCTGCAC	0.406																																						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.(3517-3519)aaafs		amyotrophic lateral sclerosis 2 (juvenile)																																				SO:0001589	frameshift_variant	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.chr2:202588159_202588160insC	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.3518dupG	2.37:g.202588165_202588165dupC	ENSP00000264276:p.Glu1173fs		Somatic				ALS2_ENST00000457679.2_Frame_Shift_Ins_p.K485fs	p.K1173fs	NM_020919.3	NP_065970.2	WXS	Illumina GAIIx	Phase_I	Q96Q42	ALS2_HUMAN			22	3889_3890	-			1173					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Frame_Shift_Ins	INS	ENST00000264276.6	37	c.3517_3518insG	CCDS42800.1																																																																																				0.406	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		10	374						10	374	---	---	---	---
ADAM23	8745	broad.mit.edu	37	2	207460860	207460861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:207460860_207460861insC	ENST00000264377.3	+	24	2661_2662	c.2333_2334insC	c.(2332-2337)caccccfs	p.HP778fs	ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.HP778fs|ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.HP778fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	778					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K781fs*3(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGGAACCTTCACCCCCCCAAGG	0.455																																					Melanoma(194;1127 2130 19620 24042 27855)	ENST00000264377.3																			2	Insertion - Frameshift(2)	p.K781fs*3(2)	ovary(2)	NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51						c.(2332-2334)cccfs		ADAM metallopeptidase domain 23																																				SO:0001589	frameshift_variant	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207460860_207460861insC	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.2340dupC	2.37:g.207460867_207460867dupC	ENSP00000264377:p.His778fs		Somatic				ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.P778fs|ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.P778fs	p.P778fs	NM_003812.2	NP_003803.1	WXS	Illumina GAIIx	Phase_I	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	24	2661_2662	+			778					A2RU59	Frame_Shift_Ins	INS	ENST00000264377.3	37	c.2333_2334insC	CCDS2369.1																																																																																				0.455	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		9	93						9	93	---	---	---	---
RUFY4	285180	broad.mit.edu	37	2	218940309	218940310	+	Frame_Shift_Ins	INS	-	-	G	rs377110484		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:218940309_218940310insG	ENST00000344321.7	+	9	1612_1613	c.1094_1095insG	c.(1093-1098)tcggggfs	p.SG365fs	RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000374155.3_Frame_Shift_Ins_p.SG385fs|RUFY4_ENST00000441828.2_3'UTR	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	365							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGCAGGGGTCGGGGGGCTCTA	0.594																																						ENST00000374155.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(1153-1155)tggfs		RUN and FYVE domain containing 4																																				SO:0001589	frameshift_variant	285180						metal ion binding	g.chr2:218940309_218940310insG	AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"""Zinc fingers, FYVE domain containing"""	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.1100dupG	2.37:g.218940315_218940315dupG	ENSP00000345900:p.Ser365fs		Somatic				RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Frame_Shift_Ins_p.W365fs|RUFY4_ENST00000463872.1_3'UTR	p.W385fs			WXS	Illumina GAIIx	Phase_I	Q6ZNE9	RUFY4_HUMAN		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	1564_1565	+		Renal(207;0.0915)	365					Q6ZR96	Frame_Shift_Ins	INS	ENST00000344321.7	37	c.1154_1155insG																																																																																					0.594	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198483		8	214						8	214	---	---	---	---
NYAP2	57624	broad.mit.edu	37	2	226447071	226447072	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:226447071_226447072insC	ENST00000272907.6	+	4	1351_1352	c.938_939insC	c.(937-942)tgccccfs	p.CP313fs	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	313	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												TCAGTGCCATGCCCCCCCAAGG	0.619																																						ENST00000272907.6																			0											c.(937-939)tccfs		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2																																				SO:0001589	frameshift_variant	57624							g.chr2:226447071_226447072insC	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.945dupC	2.37:g.226447078_226447078dupC	ENSP00000272907:p.Cys313fs		Somatic				NYAP2_ENST00000409269.2_Intron	p.S313fs	NM_020864.1	NP_065915.1	WXS	Illumina GAIIx	Phase_I	Q9P242	K1486_HUMAN			4	1351_1352	+			313			Pro-rich.		A2RRN4|Q96NL2	Frame_Shift_Ins	INS	ENST00000272907.6	37	c.938_939insC	CCDS46529.1																																																																																				0.619	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		7	68						7	68	---	---	---	---
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C	rs373650820		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)gccfs	p.A404fs	INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.A168fs|INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.A168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.A403fs			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	416					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGGTAACGCCCCCCCTCCC	0.535																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(1210-1212)cccfs		inositol polyphosphate-5-phosphatase, 145kDa																																				SO:0001589	frameshift_variant	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234072358_234072359insC	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.1217dupC	2.37:g.234072365_234072365dupC	ENSP00000352575:p.Ala404fs		Somatic				INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs	p.P404fs			WXS	Illumina GAIIx	Phase_I	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	14	1210_1211	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	416					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Frame_Shift_Ins	INS	ENST00000359570.5	37	c.1210_1211insC																																																																																					0.535	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		16	269						16	269	---	---	---	---
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cacfs	p.H202fs	NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.H242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.H202fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		AATCACCAGGTGGGGGGGCAGG	0.535																																						ENST00000252711.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16						c.(604-606)cctfs		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	NADH(DB00157)																																			SO:0001589	frameshift_variant	4705				mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:240954220_240954221insG	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.605dupC	2.37:g.240954227_240954227dupG	ENSP00000252711:p.His202fs		Somatic				NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs	p.P202fs	NM_004544.3	NP_004535.1	WXS	Illumina GAIIx	Phase_I	O95299	NDUAA_HUMAN		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	5	704_705	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	202					Q8WXC9	Frame_Shift_Ins	INS	ENST00000252711.2	37	c.604_605insC	CCDS2531.1																																																																																				0.535	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		27	409						27	409	---	---	---	---
PPP1R7	5510	broad.mit.edu	37	2	242092998	242092999	+	Frame_Shift_Ins	INS	-	-	G	rs140300724|rs372463197		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:242092998_242092999insG	ENST00000234038.6	+	2	634_635	c.160_161insG	c.(160-162)cggfs	p.R54fs	PPP1R7_ENST00000404405.3_Frame_Shift_Ins_p.R54fs|PPP1R7_ENST00000272983.8_Intron|PPP1R7_ENST00000407025.1_Frame_Shift_Ins_p.R54fs|PPP1R7_ENST00000401987.1_Intron|PPP1R7_ENST00000402734.1_Intron|PPP1R7_ENST00000406106.3_Frame_Shift_Ins_p.R54fs	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	54					positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		TGGGGAGGAGCGGGGGGAGGAG	0.629																																					NSCLC(62;446 1299 5417 11238 27640)	ENST00000234038.6																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23						c.(160-162)gggfs		protein phosphatase 1, regulatory subunit 7																																				SO:0001589	frameshift_variant	5510					cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity	g.chr2:242092998_242092999insG	AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9295	protein-coding gene	gene with protein product		602877	"""protein phosphatase 1, regulatory (inhibitor) subunit 7"""			7498485, 7670491, 10231361	Standard	NM_001282413		Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.166dupG	2.37:g.242093004_242093004dupG	ENSP00000234038:p.Arg54fs		Somatic				PPP1R7_ENST00000402734.1_Intron|PPP1R7_ENST00000406106.3_Frame_Shift_Ins_p.G54fs|PPP1R7_ENST00000404405.3_Frame_Shift_Ins_p.G54fs|PPP1R7_ENST00000272983.8_Intron|PPP1R7_ENST00000401987.1_Intron|PPP1R7_ENST00000407025.1_Frame_Shift_Ins_p.G54fs	p.G54fs	NM_002712.1	NP_002703.1	WXS	Illumina GAIIx	Phase_I	Q15435	PP1R7_HUMAN		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)	2	634_635	+		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	54					B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Frame_Shift_Ins	INS	ENST00000234038.6	37	c.160_161insG	CCDS2546.1																																																																																				0.629	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257244.4	NM_002712		7	139						7	139	---	---	---	---
GRM7	2917	broad.mit.edu	37	3	6903212	6903213	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr3:6903212_6903213insG	ENST00000357716.4	+	1	411_412	c.137_138insG	c.(136-141)gaggggfs	p.EG46fs	GRM7_ENST00000403881.1_Frame_Shift_Ins_p.EG46fs|GRM7_ENST00000389336.4_Frame_Shift_Ins_p.EG46fs|GRM7_ENST00000486284.1_Frame_Shift_Ins_p.EG46fs|GRM7_ENST00000402647.2_Frame_Shift_Ins_p.EG46fs	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	46					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						ATCCGGATCGAGGGGGACGTCA	0.688																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(136-138)gggfs		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:6903212_6903213insG	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.142dupG	3.37:g.6903217_6903217dupG	ENSP00000350348:p.Glu46fs		Somatic				GRM7_ENST00000402647.2_Frame_Shift_Ins_p.G46fs|GRM7_ENST00000403881.1_Frame_Shift_Ins_p.G46fs|GRM7_ENST00000389336.4_Frame_Shift_Ins_p.G46fs|GRM7_ENST00000357716.4_Frame_Shift_Ins_p.G46fs	p.G46fs	NM_181874.2	NP_870989.1	WXS	Illumina GAIIx	Phase_I	Q14831	GRM7_HUMAN			1	411_412	+			46					Q8NFS2|Q8NFS3|Q8NFS4	Frame_Shift_Ins	INS	ENST00000357716.4	37	c.137_138insG	CCDS43042.1																																																																																				0.688	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		2	4						2	4	---	---	---	---
SRGAP3	9901	broad.mit.edu	37	3	9034599	9034600	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr3:9034599_9034600insC	ENST00000383836.3	-	20	2975_2976	c.2548_2549insG	c.(2548-2550)gtgfs	p.V850fs	SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.V826fs	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	850					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCGGCCCATCACCCCCCCAAAG	0.554			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2548-2550)gatfs		SLIT-ROBO Rho GTPase activating protein 3																																				SO:0001589	frameshift_variant	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9034599_9034600insC	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2549dupG	3.37:g.9034606_9034606dupC	ENSP00000373347:p.Val850fs		Somatic				SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.D826fs	p.D850fs	NM_014850.3	NP_055665.1	WXS	Illumina GAIIx	Phase_I	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	20	2975_2976	-			850					Q8IX13|Q8IZV8	Frame_Shift_Ins	INS	ENST00000383836.3	37	c.2548_2549insG	CCDS2572.1																																																																																				0.554	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			7	109						7	109	---	---	---	---
VHL	7428	broad.mit.edu	37	3	10191580	10191580	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr3:10191580delC	ENST00000256474.2	+	3	1413	c.573delC	c.(571-573)cacfs	p.H191fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Frame_Shift_Del_p.H150fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	191			H -> D (in ECYT2; dbSNP:rs28940301). {ECO:0000269|PubMed:12844285}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.H191fs*23(1)|p.D187_N193del(1)|p.H191fs*10(1)|p.H191fs*22(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TGGAAGACCACCCAAATGTGC	0.502		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													ENST00000256474.2		1	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	"""D, Mis, N, F, S"""	von Hippel-Lindau syndrome gene			"""E, M, O"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""		4	Deletion - Frameshift(3)|Deletion - In frame(1)	p.H191fs*23(1)|p.D187_N193del(1)|p.H191fs*10(1)|p.H191fs*22(1)	kidney(4)	adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769						c.(571-573)cafs		von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase							76.0	69.0	71.0					3																	10191580		2203	4300	6503	SO:0001589	frameshift_variant	7428	von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	g.chr3:10191580delC	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.573delC	3.37:g.10191580delC	ENSP00000256474:p.His191fs		Somatic				VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Frame_Shift_Del_p.H150fs	p.H191fs	NM_000551.3	NP_000542.1	WXS	Illumina GAIIx	Phase_I	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	3	1413	+			191		H -> D (in ECYT2; dbSNP:rs28940301).			B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	c.573delC	CCDS2597.1																																																																																				0.502	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		44	29						44	29	---	---	---	---
MLH1	4292	broad.mit.edu	37	3	37070348	37070349	+	Frame_Shift_Ins	INS	-	-	C	rs63750855|rs63751031		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr3:37070348_37070349insC	ENST00000231790.2	+	13	1699_1700	c.1483_1484insC	c.(1483-1485)accfs	p.T495fs	MLH1_ENST00000435176.1_Frame_Shift_Ins_p.T397fs|MLH1_ENST00000539477.1_Frame_Shift_Ins_p.T254fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.T254fs|MLH1_ENST00000458205.2_Frame_Shift_Ins_p.T254fs|MLH1_ENST00000536378.1_Frame_Shift_Ins_p.T254fs	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	495	Interaction with EXO1.				ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.T495A(1)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TGCAGCTTGTACCCCCCGGAGA	0.47		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000231790.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	"""D, Mis, N, F, S"""	E.coli MutL homolog gene			"""E, O"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		2	Substitution - Missense(1)|Whole gene deletion(1)	p.T495A(1)|p.0?(1)	ovary(1)|breast(1)	NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						c.(1483-1485)cccfs	Mismatch excision repair (MMR)	mutL homolog 1																																				SO:0001589	frameshift_variant	4292	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37070348_37070349insC	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.1489dupC	3.37:g.37070354_37070354dupC	ENSP00000231790:p.Thr495fs		Somatic				MLH1_ENST00000435176.1_Frame_Shift_Ins_p.P397fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000539477.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000458205.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000536378.1_Frame_Shift_Ins_p.P254fs	p.P495fs	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	WXS	Illumina GAIIx	Phase_I	P40692	MLH1_HUMAN			13	1699_1700	+			495			Interaction with EXO1.		B4DI13|B4DQ11|E9PCU2	Frame_Shift_Ins	INS	ENST00000231790.2	37	c.1483_1484insC	CCDS2663.1																																																																																				0.470	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		10	360						10	360	---	---	---	---
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G	rs201949188		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(127-129)gggfs	p.G43fs	KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.G43fs|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.G43fs|KCTD6_ENST00000479470.1_3'UTR	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	43	BTB.				protein homooligomerization (GO:0051260)		ankyrin binding (GO:0030506)			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465																																						ENST00000355076.6																			0				endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5						c.(124-129)ttggggfs		potassium channel tetramerization domain containing 6																																				SO:0001589	frameshift_variant	200845					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr3:58486771_58486772insG	AK074934	CCDS2891.1	3p21.2	2013-06-20	2013-06-20		ENSG00000168301	ENSG00000168301			22235	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 6"""			21472142	Standard	NM_153331		Approved	MGC27385, KCASH3	uc003dkj.4	Q8NC69	OTTHUMG00000159161	ENST00000355076.6:c.133dupG	3.37:g.58486778_58486778dupG	ENSP00000347188:p.Gly43fs		Somatic				KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs	p.LG42fs	NM_153331.3	NP_699162.3	WXS	Illumina GAIIx	Phase_I	Q8NC69	KCTD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)	2	1109_1110	+			42			BTB.		B3KNI5|Q8NBS6|Q8TCA6	Frame_Shift_Ins	INS	ENST00000355076.6	37	c.126_127insG	CCDS2891.1																																																																																				0.465	KCTD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353591.1	NM_153331		8	247						8	247	---	---	---	---
GRK7	131890	broad.mit.edu	37	3	141535707	141535708	+	Frame_Shift_Ins	INS	-	-	G	rs149574289		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr3:141535707_141535708insG	ENST00000264952.2	+	4	1614_1615	c.1477_1478insG	c.(1477-1479)cggfs	p.R493fs		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	493	AGC-kinase C-terminal.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)	p.R493L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CTCTGAGGTTCGGGGGGTGGAA	0.46																																						ENST00000264952.2																			1	Substitution - Missense(1)	p.R493L(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1477-1479)gggfs		G protein-coupled receptor kinase 7																																				SO:0001589	frameshift_variant	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141535707_141535708insG		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.1483dupG	3.37:g.141535713_141535713dupG	ENSP00000264952:p.Arg493fs		Somatic					p.G493fs	NM_139209.2	NP_631948.1	WXS	Illumina GAIIx	Phase_I	Q8WTQ7	GRK7_HUMAN			4	1614_1615	+			493			AGC-kinase C-terminal.			Frame_Shift_Ins	INS	ENST00000264952.2	37	c.1477_1478insG	CCDS3120.1																																																																																				0.460	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		14	524						14	524	---	---	---	---
CCNL1	57018	broad.mit.edu	37	3	156867954	156867954	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr3:156867954delG	ENST00000295926.3	-	7	897	c.779delC	c.(778-780)ccgfs	p.P260fs	CCNL1_ENST00000461804.1_Frame_Shift_Del_p.P260fs|CCNL1_ENST00000479052.1_5'UTR	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	260	Cyclin-like 2.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			AGTTGGCAACGGAATCTAAAC	0.343																																						ENST00000295926.3																			0				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18						c.(778-780)cgfs		cyclin L1							49.0	50.0	50.0					3																	156867954		2203	4299	6502	SO:0001589	frameshift_variant	57018				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr3:156867954delG	AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.779delC	3.37:g.156867954delG	ENSP00000295926:p.Pro260fs		Somatic				CCNL1_ENST00000461804.1_Frame_Shift_Del_p.P260fs|CCNL1_ENST00000479052.1_5'UTR	p.P260fs	NM_020307.2	NP_064703.1	WXS	Illumina GAIIx	Phase_I	Q9UK58	CCNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)		7	897	-			260			Cyclin-like 2.		B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Frame_Shift_Del	DEL	ENST00000295926.3	37	c.779delC	CCDS3178.1																																																																																				0.343	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351859.1	NM_020307		24	41						24	41	---	---	---	---
SAMD7	344658	broad.mit.edu	37	3	169646267	169646268	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr3:169646267_169646268insG	ENST00000428432.2	+	7	1331_1332	c.942_943insG	c.(943-945)gggfs	p.G315fs	SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.G315fs	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	315										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TGGTTACAATTGGGGGGAATCT	0.381																																						ENST00000428432.2																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(940-945)atggggfs		sterile alpha motif domain containing 7																																				SO:0001589	frameshift_variant	344658							g.chr3:169646267_169646268insG	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.948dupG	3.37:g.169646273_169646273dupG	ENSP00000391299:p.Gly315fs		Somatic				SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.MG314fs	p.MG314fs	NM_182610.2	NP_872416.1	WXS	Illumina GAIIx	Phase_I	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		7	1331_1332	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		314						Frame_Shift_Ins	INS	ENST00000428432.2	37	c.942_943insG	CCDS3209.1																																																																																				0.381	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		7	252						7	252	---	---	---	---
LGI2	55203	broad.mit.edu	37	4	25005320	25005321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr4:25005320_25005321insC	ENST00000382114.4	-	8	1575_1576	c.1390_1391insG	c.(1390-1392)gccfs	p.A464fs		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	464						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CAGGGTCATGGCCCCCCGGGAT	0.515																																						ENST00000382114.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33						c.(1390-1392)catfs		leucine-rich repeat LGI family, member 2																																				SO:0001589	frameshift_variant	55203					extracellular region		g.chr4:25005320_25005321insC	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.1391dupG	4.37:g.25005326_25005326dupC	ENSP00000371548:p.Ala464fs		Somatic					p.H464fs	NM_018176.3	NP_060646.2	WXS	Illumina GAIIx	Phase_I	Q8N0V4	LGI2_HUMAN			8	1575_1576	-		Breast(46;0.173)	464					Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Frame_Shift_Ins	INS	ENST00000382114.4	37	c.1390_1391insG	CCDS3431.1																																																																																				0.515	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			7	361						7	361	---	---	---	---
ENAM	10117	broad.mit.edu	37	4	71500242	71500242	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr4:71500242delC	ENST00000396073.3	+	6	709	c.428delC	c.(427-429)tcafs	p.S143fs		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	143					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AAGCAGCCATCACATAATCAA	0.483																																						ENST00000396073.3																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(427-429)tafs		enamelin							97.0	101.0	100.0					4																	71500242		2203	4296	6499	SO:0001589	frameshift_variant	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71500242delC	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.428delC	4.37:g.71500242delC	ENSP00000379383:p.Ser143fs		Somatic					p.S143fs	NM_031889.2	NP_114095.2	WXS	Illumina GAIIx	Phase_I	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		6	709	+			143					Q17RI5|Q9H3D1	Frame_Shift_Del	DEL	ENST00000396073.3	37	c.428delC	CCDS3544.2																																																																																				0.483	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		14	70						14	70	---	---	---	---
HPGDS	27306	broad.mit.edu	37	4	95223320	95223321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr4:95223320_95223321insC	ENST00000295256.5	-	5	501_502	c.411_412insG	c.(409-414)gggagafs	p.R138fs	HPGDS_ENST00000514774.1_5'Flank	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	138	GST C-terminal.				arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|glutathione derivative biosynthetic process (GO:1901687)|locomotory behavior (GO:0007626)|prostaglandin metabolic process (GO:0006693)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	calcium ion binding (GO:0005509)|glutathione transferase activity (GO:0004364)|magnesium ion binding (GO:0000287)|prostaglandin-D synthase activity (GO:0004667)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	AGCCATTCTCTCCCCCCTAAAT	0.351																																					Colon(86;1802 1843 17863 46794)	ENST00000295256.5																			0				breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7						c.(409-414)gggagafs		hematopoietic prostaglandin D synthase	Glutathione(DB00143)																																			SO:0001589	frameshift_variant	27306				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity	g.chr4:95223320_95223321insC	D82073	CCDS3640.1	4q22.2	2012-06-21			ENSG00000163106	ENSG00000163106		"""Glutathione S-transferases / Soluble"""	17890	protein-coding gene	gene with protein product	"""glutathione S-transferase sigma"""	602598				9323136, 9353279, 11672424	Standard	XM_005262932		Approved	GSTS, PGDS, H-PGDS, PGD2, GSTS1-1	uc003hte.1	O60760	OTTHUMG00000130974	ENST00000295256.5:c.412dupG	4.37:g.95223326_95223326dupC	ENSP00000295256:p.Arg138fs		Somatic					p.R138fs	NM_014485.2	NP_055300.1	WXS	Illumina GAIIx	Phase_I	O60760	HPGDS_HUMAN			5	501_502	-			138			GST C-terminal.		Q6FHT9	Frame_Shift_Ins	INS	ENST00000295256.5	37	c.411_412insG	CCDS3640.1																																																																																				0.351	HPGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253587.1	NM_014485		8	544						8	544	---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96091356	96091357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr4:96091356_96091357insG	ENST00000453304.1	-	15	2926_2927	c.2578_2579insC	c.(2578-2580)cagfs	p.Q860fs		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	860	Death.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCCTCTCGTCTGGGGGGCATCC	0.599																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(2578-2580)gacfs		unc-5 homolog C (C. elegans)																																				SO:0001589	frameshift_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96091356_96091357insG	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2579dupC	4.37:g.96091362_96091362dupG	ENSP00000406022:p.Gln860fs		Somatic					p.D860fs	NM_003728.3	NP_003719.3	WXS	Illumina GAIIx	Phase_I	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	15	2926_2927	-		Hepatocellular(203;0.114)	860			Death.		Q8IUT0	Frame_Shift_Ins	INS	ENST00000453304.1	37	c.2578_2579insC	CCDS3643.1																																																																																				0.599	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		7	313						7	313	---	---	---	---
RRH	10692	broad.mit.edu	37	4	110763720	110763721	+	Frame_Shift_Ins	INS	-	-	C	rs370906961		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr4:110763720_110763721insC	ENST00000317735.4	+	6	850_851	c.816_817insC	c.(817-819)cccfs	p.P273fs		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	273					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		AGAAGATTCCTCCCCCCATGGC	0.416																																						ENST00000317735.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12						c.(814-819)ccccccfs		retinal pigment epithelium-derived rhodopsin homolog				5,4261		0,5,2128						-0.4	1.0			137	0,8252		0,0,4126	no	frameshift	RRH	NM_006583.2		0,5,6254	A1A1,A1R,RR		0.0,0.1172,0.0399				5,12513				SO:0001589	frameshift_variant	10692				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr4:110763720_110763721insC	AF012270	CCDS3687.1	4q25	2012-08-08			ENSG00000180245	ENSG00000180245		"""GPCR / Class A : Opsin receptors"""	10450	protein-coding gene	gene with protein product	"""peropsin"""	605224				9275222	Standard	NM_006583		Approved	peropsin	uc003hzv.3	O14718	OTTHUMG00000132045	ENST00000317735.4:c.822dupC	4.37:g.110763726_110763726dupC	ENSP00000314992:p.Pro273fs		Somatic					p.PP272fs	NM_006583.2	NP_006574.1	WXS	Illumina GAIIx	Phase_I	O14718	OPSX_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00109)	6	850_851	+		Hepatocellular(203;0.217)	272					A1A4V2|Q7RTS4	Frame_Shift_Ins	INS	ENST00000317735.4	37	c.816_817insC	CCDS3687.1																																																																																				0.416	RRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255066.1	NM_006583		7	313						7	313	---	---	---	---
GAB1	2549	broad.mit.edu	37	4	144381536	144381537	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr4:144381536_144381537insC	ENST00000262994.4	+	8	2001_2002	c.1699_1700insC	c.(1699-1701)tccfs	p.S567fs	GAB1_ENST00000262995.4_Frame_Shift_Ins_p.S597fs|GAB1_ENST00000505913.1_Frame_Shift_Ins_p.S464fs	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	567					activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GTTTCCCATGTCCCCCCGACCA	0.406																																						ENST00000262995.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30						c.(1789-1791)cccfs		GRB2-associated binding protein 1																																				SO:0001589	frameshift_variant	2549				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr4:144381536_144381537insC	U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.1705dupC	4.37:g.144381542_144381542dupC	ENSP00000262994:p.Ser567fs		Somatic				GAB1_ENST00000262994.4_Frame_Shift_Ins_p.P567fs|GAB1_ENST00000505913.1_Frame_Shift_Ins_p.P464fs	p.P597fs	NM_207123.2	NP_997006.1	WXS	Illumina GAIIx	Phase_I	Q13480	GAB1_HUMAN			9	2216_2217	+	all_hematologic(180;0.158)		567					A8K152|Q4W5G2|Q6P1W2	Frame_Shift_Ins	INS	ENST00000262994.4	37	c.1789_1790insC	CCDS3759.1																																																																																				0.406	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1	NM_002039		9	273						9	273	---	---	---	---
FGG	2266	broad.mit.edu	37	4	155526058	155526059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr4:155526058_155526059insC	ENST00000336098.3	-	9	1327_1328	c.1289_1290insG	c.(1288-1290)ggafs	p.G430fs	FGG_ENST00000404648.3_Frame_Shift_Ins_p.G430fs|FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	430	Platelet aggregation and Staphylococcus clumping.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CCTGTTTGGCTCCCCCCAGGTG	0.45																																						ENST00000404648.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1288-1290)ggcfs		fibrinogen gamma chain	Sucralfate(DB00364)																																			SO:0001589	frameshift_variant	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155526058_155526059insC		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.1290dupG	4.37:g.155526064_155526064dupC	ENSP00000336829:p.Gly430fs		Somatic				FGG_ENST00000336098.3_Frame_Shift_Ins_p.G430fs|FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs	p.G430fs	NM_000509.4	NP_000500.2	WXS	Illumina GAIIx	Phase_I	P02679	FIBG_HUMAN			9	1528_1529	-	all_hematologic(180;0.215)	Renal(120;0.0458)	430			Platelet aggregation and Staphylococcus clumping.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Frame_Shift_Ins	INS	ENST00000336098.3	37	c.1289_1290insG	CCDS3788.1																																																																																				0.450	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		7	402						7	402	---	---	---	---
TLR3	7098	broad.mit.edu	37	4	186997804	186997805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr4:186997804_186997805insG	ENST00000296795.3	+	2	135_136	c.31_32insG	c.(31-33)tggfs	p.W11fs		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	11					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TATCTACTTTTGGGGGGGCCTT	0.446																																						ENST00000296795.2																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(31-33)gggfs		toll-like receptor 3																																				SO:0001589	frameshift_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:186997804_186997805insG	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.38dupG	4.37:g.186997811_186997811dupG	ENSP00000296795:p.Trp11fs		Somatic					p.G11fs	NM_003265.2	NP_003256.1	WXS	Illumina GAIIx	Phase_I	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	2	135_136	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	11					B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Frame_Shift_Ins	INS	ENST00000296795.3	37	c.31_32insG	CCDS3846.1																																																																																				0.446	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			8	186						8	186	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187558038	187558039	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr4:187558038_187558039insG	ENST00000441802.2	-	5	3881_3882	c.3672_3673insC	c.(3670-3675)cccaaafs	p.K1225fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1225	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGGTTGATTTGGGGGGACTAC	0.361										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(3670-3675)ccaatcfs		FAT atypical cadherin 1																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187558038_187558039insG	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3673dupC	4.37:g.187558044_187558044dupG	ENSP00000406229:p.Lys1225fs	HNSCC(5;0.00058)	Somatic					p.I1225fs	NM_005245.3	NP_005236.2	WXS	Illumina GAIIx	Phase_I	Q14517	FAT1_HUMAN			5	3881_3882	-			1225			Cadherin 10.			Frame_Shift_Ins	INS	ENST00000441802.2	37	c.3672_3673insC	CCDS47177.1																																																																																				0.361	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		12	751						12	751	---	---	---	---
TRIML2	205860	broad.mit.edu	37	4	189012770	189012771	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr4:189012770_189012771insG	ENST00000512729.1	-	7	1294_1295	c.920_921insC	c.(919-921)cctfs	p.P307fs	TRIML2_ENST00000326754.3_Frame_Shift_Ins_p.P332fs	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	307	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GCCTTTTCAGAGGGGGGAAGAC	0.559																																						ENST00000512729.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39						c.(919-921)cctfs		tripartite motif family-like 2																																				SO:0001589	frameshift_variant	205860						ligase activity	g.chr4:189012770_189012771insG	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.921dupC	4.37:g.189012776_189012776dupG	ENSP00000422581:p.Pro307fs		Somatic				TRIML2_ENST00000326754.3_Frame_Shift_Ins_p.P332fs	p.P307fs	NM_173553.1	NP_775824.1	WXS	Illumina GAIIx	Phase_I	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	7	1294_1295	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	307			B30.2/SPRY.		B7Z6J6	Frame_Shift_Ins	INS	ENST00000512729.1	37	c.920_921insC	CCDS3850.1																																																																																				0.559	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		7	408						7	408	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	31799540	31799541	+	Frame_Shift_Ins	INS	-	-	C	rs371280714		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:31799540_31799541insC	ENST00000438447.1	+	2	573_574	c.185_186insC	c.(184-189)agccccfs	p.SP62fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.SP62fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	62					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.E65fs*34(1)|p.E65fs*21(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCTGATCACAGCCCCCCCGAAA	0.589																																						ENST00000438447.1																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.E65fs*34(1)|p.E65fs*21(1)	large_intestine(1)|ovary(1)	NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(184-186)accfs		PDZ domain containing 2																																				SO:0001589	frameshift_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31799540_31799541insC	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.192dupC	5.37:g.31799547_31799547dupC	ENSP00000402033:p.Ser62fs		Somatic				PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.T62fs	p.T62fs			WXS	Illumina GAIIx	Phase_I	O15018	PDZD2_HUMAN			2	573_574	+			62					Q9BXD4	Frame_Shift_Ins	INS	ENST00000438447.1	37	c.185_186insC	CCDS34137.1																																																																																				0.589	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			8	227						8	227	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	31799656	31799657	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:31799656_31799657insG	ENST00000438447.1	+	2	689_690	c.301_302insG	c.(301-303)aggfs	p.R101fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.R101fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	101	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGAAAAGCGCAGGGGGGGCAAG	0.574																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(301-303)gggfs		PDZ domain containing 2																																				SO:0001589	frameshift_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31799656_31799657insG	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.308dupG	5.37:g.31799663_31799663dupG	ENSP00000402033:p.Arg101fs		Somatic				PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.G101fs	p.G101fs			WXS	Illumina GAIIx	Phase_I	O15018	PDZD2_HUMAN			2	689_690	+			101			PDZ 1.		Q9BXD4	Frame_Shift_Ins	INS	ENST00000438447.1	37	c.301_302insG	CCDS34137.1																																																																																				0.574	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			9	162						9	162	---	---	---	---
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(931-933)gggfs	p.G311fs	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.G311fs	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	311					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGGTGTGATTGGGGGGCAGCT	0.52																																						ENST00000265113.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41						c.(928-933)atggggfs		solute carrier family 1 (glial high affinity glutamate transporter), member 3	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36679798_36679799insG		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.936dupG	5.37:g.36679804_36679804dupG	ENSP00000265113:p.Gly311fs		Somatic				CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs	p.MG310fs	NM_004172.4	NP_004163.3	WXS	Illumina GAIIx	Phase_I	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1406_1407	+	all_lung(31;0.000245)		310					B2R5T3|Q4JCQ8	Frame_Shift_Ins	INS	ENST00000265113.4	37	c.930_931insG	CCDS3919.1																																																																																				0.520	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		14	646						14	646	---	---	---	---
C5orf42	65250	broad.mit.edu	37	5	37108532	37108533	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:37108532_37108533insT	ENST00000508244.1	-	50	9372_9373	c.9279_9280insA	c.(9277-9282)aaacatfs	p.H3094fs	C5orf42_ENST00000425232.2_Frame_Shift_Ins_p.H3094fs|C5orf42_ENST00000274258.7_Frame_Shift_Ins_p.H1992fs			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	3094						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GCACTTCCATGTTTTTTTGTAT	0.431																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(5971-5976)aaatggfs		chromosome 5 open reading frame 42																																				SO:0001589	frameshift_variant	65250							g.chr5:37108532_37108533insT		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.9280dupA	5.37:g.37108539_37108539dupT	ENSP00000421690:p.His3094fs		Somatic				C5orf42_ENST00000508244.1_Frame_Shift_Ins_p.W3094fs|C5orf42_ENST00000425232.2_Frame_Shift_Ins_p.W3094fs	p.W1992fs			WXS	Illumina GAIIx	Phase_I	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		51	9560_9561	-	all_lung(31;0.000616)		3094					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Frame_Shift_Ins	INS	ENST00000508244.1	37	c.5973_5974insA	CCDS34146.2																																																																																				0.431	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		10	450						10	450	---	---	---	---
C6	729	broad.mit.edu	37	5	41159256	41159257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:41159256_41159257insG	ENST00000263413.3	-	12	2047_2048	c.1783_1784insC	c.(1783-1785)caafs	p.Q595fs	C6_ENST00000337836.5_Frame_Shift_Ins_p.Q595fs|C6_ENST00000475349.1_5'Flank	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	595	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.Q595K(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCCTCCTCGTTGGGGGGCAGGA	0.5																																						ENST00000263413.3																			1	Substitution - Missense(1)	p.Q595K(1)	lung(1)	central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1783-1785)acgfs		complement component 6																																				SO:0001589	frameshift_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41159256_41159257insG	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1784dupC	5.37:g.41159262_41159262dupG	ENSP00000263413:p.Gln595fs		Somatic				C6_ENST00000337836.5_Frame_Shift_Ins_p.T595fs	p.T595fs	NM_001115131.1	NP_001108603.2	WXS	Illumina GAIIx	Phase_I	P13671	CO6_HUMAN			12	2047_2048	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	595			TSP type-1 3.			Frame_Shift_Ins	INS	ENST00000263413.3	37	c.1783_1784insC	CCDS3936.1																																																																																				0.500	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			7	357						7	357	---	---	---	---
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C	rs372345940		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:41181559_41181560insC	ENST00000263413.3	-	7	1092_1093	c.828_829insG	c.(826-831)gggagcfs	p.S277fs	C6_ENST00000337836.5_Frame_Shift_Ins_p.S277fs|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	277	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGAAAGAGCTCCCCCCCTGAC	0.376																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96	GRCh37	CD982526	C6	D		c.(826-831)gggctcfs		complement component 6																																				SO:0001589	frameshift_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41181559_41181560insC	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.829dupG	5.37:g.41181566_41181566dupC	ENSP00000263413:p.Ser277fs		Somatic				C6_ENST00000337836.5_Frame_Shift_Ins_p.L277fs|C6_ENST00000475349.1_5'UTR	p.L277fs	NM_001115131.1	NP_001108603.2	WXS	Illumina GAIIx	Phase_I	P13671	CO6_HUMAN			7	1092_1093	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	277			MACPF.			Frame_Shift_Ins	INS	ENST00000263413.3	37	c.828_829insG	CCDS3936.1																																																																																				0.376	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			7	221						7	221	---	---	---	---
MOCS2	4338	broad.mit.edu	37	5	52402939	52402940	+	Frame_Shift_Ins	INS	-	-	G	rs375101987|rs398122799		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:52402939_52402940insG	ENST00000396954.3	-	3	742_743	c.65_66insC	c.(64-66)ccafs	p.P22fs	MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.I85fs|MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.I85fs|CTD-2366F13.1_ENST00000502171.2_RNA|MOCS2_ENST00000361377.4_Frame_Shift_Ins_p.I85fs|MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.I85fs|CTD-2366F13.1_ENST00000499459.2_RNA|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.I85fs|MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.I85fs|CTD-2366F13.1_ENST00000512301.1_RNA|MOCS2_ENST00000527216.1_Frame_Shift_Ins_p.I80fs	NM_004531.3	NP_004522.1			molybdenum cofactor synthesis 2											endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCTCCACTAATGGGGGGGATAA	0.426																																						ENST00000361377.4																			0				endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5	GRCh37	CI992095	MOCS2	I		c.(250-255)ccttagfs		molybdenum cofactor synthesis 2																																				SO:0001589	frameshift_variant	4338				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding	g.chr5:52402939_52402940insG	AF117815	CCDS3958.1, CCDS47205.1	5q11	2008-02-05			ENSG00000164172	ENSG00000164172			7193	protein-coding gene	gene with protein product		603708				10053004, 9889283	Standard	NM_004531		Approved	MOCO1	uc003joz.3	O96007	OTTHUMG00000096981	ENST00000396954.3:c.66dupC	5.37:g.52402946_52402946dupG	ENSP00000380157:p.Pro22fs		Somatic				MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000396954.3_Frame_Shift_Ins_p.L22fs|MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.*85fs	p.*85fs			WXS	Illumina GAIIx	Phase_I	O96033	MOC2A_HUMAN			3	293_294	-		Lung NSC(810;3.08e-05)|Breast(144;0.0848)	85						Frame_Shift_Ins	INS	ENST00000396954.3	37	c.252_253insC	CCDS3958.1																																																																																				0.426	MOCS2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214053.3	NM_183418		7	186						7	186	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71491428	71491429	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:71491428_71491429insA	ENST00000296755.7	+	5	2544_2545	c.2246_2247insA	c.(2245-2250)gcaaaafs	p.AK749fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	749	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).				axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTGTCTGAAGCAAAAAAACCAG	0.396																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(2245-2247)gaafs		microtubule-associated protein 1B																																				SO:0001589	frameshift_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71491428_71491429insA	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.2253dupA	5.37:g.71491435_71491435dupA	ENSP00000296755:p.Ala749fs		Somatic					p.E749fs	NM_005909.3	NP_005900.2	WXS	Illumina GAIIx	Phase_I	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	2544_2545	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	749			Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).		A2BDK5	Frame_Shift_Ins	INS	ENST00000296755.7	37	c.2246_2247insA	CCDS4012.1																																																																																				0.396	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		7	514						7	514	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5898)agccccfs	p.SP1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(5893-5895)accfs		microtubule-associated protein 1B																																				SO:0001589	frameshift_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495076_71495077insC	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5901dupC	5.37:g.71495083_71495083dupC	ENSP00000296755:p.Ser1965fs		Somatic					p.T1965fs	NM_005909.3	NP_005900.2	WXS	Illumina GAIIx	Phase_I	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	6192_6193	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1965					A2BDK5	Frame_Shift_Ins	INS	ENST00000296755.7	37	c.5894_5895insC	CCDS4012.1																																																																																				0.485	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		17	391						17	391	---	---	---	---
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:74324982_74324983insG	ENST00000322348.4	-	1	1741_1742	c.880_881insC	c.(880-882)catfs	p.H294fs		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	294					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.H294fs*2(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGAATGTTATGGGGGGGTGCT	0.366																																						ENST00000322348.4																			1	Insertion - Frameshift(1)	p.H294fs*2(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19						c.(880-882)taafs		glucosaminyl (N-acetyl) transferase 4, core 2																																				SO:0001589	frameshift_variant	51301				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr5:74324982_74324983insG	AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	17973	protein-coding gene	gene with protein product	"""core 2 beta-1,6-N-acetylglucosaminyltransferase 3"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"""		"""glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.881dupC	5.37:g.74324989_74324989dupG	ENSP00000317027:p.His294fs		Somatic					p.*294fs	NM_016591.2	NP_057675.1	WXS	Illumina GAIIx	Phase_I	Q9P109	GCNT4_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)	1	1741_1742	-		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)	294						Frame_Shift_Ins	INS	ENST00000322348.4	37	c.880_881insC	CCDS4026.1																																																																																				0.366	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591		16	202						16	202	---	---	---	---
TTC37	9652	broad.mit.edu	37	5	94863716	94863716	+	Splice_Site	DEL	C	C	-			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:94863716delC	ENST00000358746.2	-	13	1433		c.e13+1			NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37							cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						GACAAGTCTACCTGATCAAGC	0.363																																						ENST00000358746.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.e13+1		tetratricopeptide repeat domain 37							82.0	82.0	82.0					5																	94863716		2203	4300	6503	SO:0001630	splice_region_variant	9652						binding	g.chr5:94863716delC	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.1134+1G>-	5.37:g.94863716delC			Somatic						NM_014639.3	NP_055454.1	WXS	Illumina GAIIx	Phase_I	Q6PGP7	TTC37_HUMAN			13	1433	-								O15077|Q6PJI3	Splice_Site	DEL	ENST00000358746.2	37		CCDS4072.1																																																																																				0.363	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639	Intron	59	150						59	150	---	---	---	---
SLC12A2	6558	broad.mit.edu	37	5	127522258	127522259	+	In_Frame_Ins	INS	-	-	AGGACC			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:127522258_127522259insAGGACC	ENST00000262461.2	+	27	3763_3764	c.3574_3575insAGGACC	c.(3574-3576)aag>aAGGACCag	p.1192_1193insDQ	SLC12A2_ENST00000343225.4_In_Frame_Ins_p.1176_1177insDQ	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1192					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	AGCTCTATCTAAGGACCTACCA	0.431																																						ENST00000262461.2																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(3574-3576)gga>AGGACCgga		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)																																			SO:0001652	inframe_insertion	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127522258_127522259insAGGACC		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.3575_3580dupAGGACC	5.37:g.127522259_127522264dupAGGACC	ENSP00000262461:p.Lys1192_Asp1193insAspGln		Somatic				SLC12A2_ENST00000343225.4_In_Frame_Ins_p.1175_1176insRT	p.1191_1192insRT	NM_001046.2	NP_001037.1	WXS	Illumina GAIIx	Phase_I	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	27	3763_3764	+		all_cancers(142;0.0972)|Prostate(80;0.151)	1191					Q8N713|Q8WWH7	In_Frame_Ins	INS	ENST00000262461.2	37	c.3574_3575insAGGACC	CCDS4144.1																																																																																				0.431	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		45	303						45	303	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127648336	127648337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:127648336_127648337insG	ENST00000508053.1	-	43	5842_5843	c.4868_4869insC	c.(4867-4869)cctfs	p.P1623fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.P1623fs			P35556	FBN2_HUMAN	fibrillin 2	1623	TB 6.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.P1623P(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCTATTGACAGGGGGGCATGT	0.505																																						ENST00000508053.1																			2	Substitution - coding silent(2)	p.P1623P(2)	lung(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(4867-4869)cgtfs		fibrillin 2																																				SO:0001589	frameshift_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127648336_127648337insG	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4869dupC	5.37:g.127648342_127648342dupG	ENSP00000424571:p.Pro1623fs		Somatic				FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R1623fs	p.R1623fs			WXS	Illumina GAIIx	Phase_I	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	43	5842_5843	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1623			TB 6.		B4DU01|Q59ES6	Frame_Shift_Ins	INS	ENST00000508053.1	37	c.4868_4869insC	CCDS34222.1																																																																																				0.505	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		8	886						8	886	---	---	---	---
HSPA4	3308	broad.mit.edu	37	5	132432907	132432907	+	Frame_Shift_Del	DEL	G	G	-	rs143003242		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:132432907delG	ENST00000304858.2	+	15	2147	c.1858delG	c.(1858-1860)gcafs	p.A620fs		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	620					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCTAAGAACGCAGTGGAGGA	0.373																																					Colon(114;1299 1588 6063 12302 48757)	ENST00000304858.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32						c.(1858-1860)cafs		heat shock 70kDa protein 4							225.0	209.0	214.0					5																	132432907		2203	4300	6503	SO:0001589	frameshift_variant	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132432907delG	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.1858delG	5.37:g.132432907delG	ENSP00000302961:p.Ala620fs		Somatic					p.A620fs	NM_002154.3	NP_002145.3	WXS	Illumina GAIIx	Phase_I	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		15	2147	+			620					O95756|Q2TAL4|Q9BUK9	Frame_Shift_Del	DEL	ENST00000304858.2	37	c.1858delG	CCDS4166.1																																																																																				0.373	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431		8	707						8	707	---	---	---	---
KDM3B	51780	broad.mit.edu	37	5	137727193	137727194	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:137727193_137727194insC	ENST00000314358.5	+	8	2072_2073	c.1872_1873insC	c.(1873-1875)cccfs	p.P625fs	KDM3B_ENST00000542866.1_Intron|KDM3B_ENST00000394866.1_Frame_Shift_Ins_p.P281fs	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	625					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TATTTTTACAGCCCCCCAAATT	0.505																																						ENST00000314358.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(1870-1875)caccccfs		lysine (K)-specific demethylase 3B																																				SO:0001589	frameshift_variant	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137727193_137727194insC	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.1878dupC	5.37:g.137727199_137727199dupC	ENSP00000326563:p.Pro625fs		Somatic				KDM3B_ENST00000542866.1_Intron|KDM3B_ENST00000394866.1_Frame_Shift_Ins_p.HP280fs	p.HP624fs	NM_016604.3	NP_057688.2	WXS	Illumina GAIIx	Phase_I	Q7LBC6	KDM3B_HUMAN			8	2072_2073	+			624					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Frame_Shift_Ins	INS	ENST00000314358.5	37	c.1872_1873insC	CCDS34242.1																																																																																				0.505	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		7	173						7	173	---	---	---	---
PCDHGC3	5098	broad.mit.edu	37	5	140857727	140857728	+	Frame_Shift_Ins	INS	-	-	C	rs201111122		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:140857727_140857728insC	ENST00000308177.3	+	1	2148_2149	c.2044_2045insC	c.(2044-2046)gccfs	p.A682fs	PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	682	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGGCTCTGCCCCCCGGGAG	0.515											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(2044-2046)cccfs																																						SO:0001589	frameshift_variant	5098							g.chr5:140857727_140857728insC	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.2050dupC	5.37:g.140857733_140857733dupC	ENSP00000312070:p.Ala682fs		Somatic	OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1659	PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron	p.P682fs	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2148_2149	+								O60622|Q08192|Q9Y5C4	Frame_Shift_Ins	INS	ENST00000308177.3	37	c.2044_2045insC	CCDS4261.1																																																																																				0.515	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		7	194						7	194	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)gggaggfs	p.R763fs	ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.R425fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.R665fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	763					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGCTGGATCCTCCCCCCAGCGA	0.579																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(2284-2289)ggggatfs		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3																																				SO:0001589	frameshift_variant	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141049341_141049342insC	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2287dupG	5.37:g.141049347_141049347dupC	ENSP00000239440:p.Arg763fs		Somatic				ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs	p.D763fs	NM_022481.5	NP_071926.4	WXS	Illumina GAIIx	Phase_I	Q8WWN8	ARAP3_HUMAN			16	2351_2352	-			763					B4DIT1|D3DQE3	Frame_Shift_Ins	INS	ENST00000239440.4	37	c.2286_2287insG	CCDS4266.1																																																																																				0.579	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		13	630						13	630	---	---	---	---
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G	rs199646351		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:141336747_141336748insG	ENST00000231484.3	-	1	1879_1880	c.669_670insC	c.(667-672)cccaagfs	p.K224fs	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	224	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCTGACTTGGGGGGGTTCC	0.48																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(667-672)ccagtcfs		protocadherin 12				5,4259		0,5,2127						5.1	1.0			79	6,8238		0,6,4116	no	frameshift	PCDH12	NM_016580.2		0,11,6243	A1A1,A1R,RR		0.0728,0.1173,0.0879				11,12497				SO:0001589	frameshift_variant	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141336747_141336748insG	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.670dupC	5.37:g.141336754_141336754dupG	ENSP00000231484:p.Lys224fs		Somatic					p.V224fs	NM_016580.2	NP_057664.1	WXS	Illumina GAIIx	Phase_I	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1879_1880	-		all_hematologic(541;0.0999)	224			Cadherin 2.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Frame_Shift_Ins	INS	ENST00000231484.3	37	c.669_670insC	CCDS4269.1																																																																																				0.480	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		16	332						16	332	---	---	---	---
ARHGAP26	23092	broad.mit.edu	37	5	142586762	142586763	+	Splice_Site	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:142586762_142586763insC	ENST00000274498.4	+	21	2366_2367		c.e21-1		ARHGAP26_ENST00000486650.1_Intron|ARHGAP26_ENST00000378004.3_Splice_Site	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26						actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.?(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGTCTTGCAGCCCCCCGAATC	0.579																																						ENST00000378004.3																			1	Unknown(1)	p.?(1)	endometrium(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25						c.e21-1		Rho GTPase activating protein 26																																				SO:0001630	splice_region_variant	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chr5:142586762_142586763insC	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.1989-1->C	5.37:g.142586768_142586768dupC			Somatic				ARHGAP26_ENST00000274498.4_Splice_Site|ARHGAP26_ENST00000486650.1_Intron		NM_001135608.1	NP_001129080.1	WXS	Illumina GAIIx	Phase_I	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		21	2343_2344	+		all_hematologic(541;0.0416)						O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Splice_Site	INS	ENST00000274498.4	37		CCDS4277.1																																																																																				0.579	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071	Intron	7	312						7	312	---	---	---	---
LARS	51520	broad.mit.edu	37	5	145523013	145523014	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:145523013_145523014insC	ENST00000394434.2	-	19	2004_2005	c.1838_1839insG	c.(1837-1839)ggtfs	p.G613fs	LARS_ENST00000510191.1_Frame_Shift_Ins_p.G559fs|LARS_ENST00000274562.9_Frame_Shift_Ins_p.G586fs|LARS_ENST00000545646.1_Frame_Shift_Ins_p.G567fs	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	613					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CATGCAAGTTACCCCCCTGCAA	0.45																																						ENST00000394434.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34						c.(1837-1839)gaafs		leucyl-tRNA synthetase	L-Leucine(DB00149)																																			SO:0001589	frameshift_variant	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145523013_145523014insC	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.1839dupG	5.37:g.145523019_145523019dupC	ENSP00000377954:p.Gly613fs		Somatic				LARS_ENST00000510191.1_Frame_Shift_Ins_p.E559fs|LARS_ENST00000545646.1_Frame_Shift_Ins_p.E567fs|LARS_ENST00000274562.9_Frame_Shift_Ins_p.E586fs	p.E613fs	NM_020117.9	NP_064502.9	WXS	Illumina GAIIx	Phase_I	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		19	2004_2005	-			613					A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Frame_Shift_Ins	INS	ENST00000394434.2	37	c.1838_1839insG	CCDS34265.1																																																																																				0.450	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		8	799						8	799	---	---	---	---
SLC6A7	6534	broad.mit.edu	37	5	149581960	149581961	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:149581960_149581961insG	ENST00000230671.2	+	7	1280_1281	c.909_910insG	c.(910-912)gggfs	p.G304fs	SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.G304fs	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	304					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GTGTGGGCTTCGGGGGGCTCCT	0.569																																						ENST00000230671.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16						c.(907-912)ttggggfs		solute carrier family 6 (neurotransmitter transporter), member 7	L-Proline(DB00172)																																			SO:0001589	frameshift_variant	6534					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity	g.chr5:149581960_149581961insG	S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.915dupG	5.37:g.149581966_149581966dupG	ENSP00000230671:p.Gly304fs		Somatic				SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.LG303fs	p.LG303fs	NM_014228.3	NP_055043.2	WXS	Illumina GAIIx	Phase_I	Q99884	SC6A7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1280_1281	+		all_hematologic(541;0.224)	303					Q0VG81|Q52LU6	Frame_Shift_Ins	INS	ENST00000230671.2	37	c.909_910insG	CCDS4305.1																																																																																				0.569	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1	NM_014228		9	330						9	330	---	---	---	---
LARP1	23367	broad.mit.edu	37	5	154181821	154181822	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:154181821_154181822insG	ENST00000336314.4	+	11	1764_1765	c.1740_1741insG	c.(1741-1743)gggfs	p.G581fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	658					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCGGCACCCAGGGGGGGACCG	0.55																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1738-1743)ccggggfs		La ribonucleoprotein domain family, member 1																																				SO:0001589	frameshift_variant	23367						protein binding|RNA binding	g.chr5:154181821_154181822insG	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1747dupG	5.37:g.154181828_154181828dupG	ENSP00000336721:p.Gly581fs		Somatic					p.PG580fs	NM_015315.3	NP_056130.2	WXS	Illumina GAIIx	Phase_I	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		11	1764_1765	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	657					O94836|Q8N4M2|Q8NB73|Q9UFD7	Frame_Shift_Ins	INS	ENST00000336314.4	37	c.1740_1741insG	CCDS4328.1																																																																																				0.550	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		9	220						9	220	---	---	---	---
ADAM19	8728	broad.mit.edu	37	5	156915296	156915297	+	Frame_Shift_Ins	INS	-	-	G	rs11466804|rs199716249	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:156915296_156915297insG	ENST00000517905.1	-	21	2570_2571	c.2526_2527insC	c.(2524-2529)cccgcafs	p.A843fs	ADAM19_ENST00000257527.4_Frame_Shift_Ins_p.A843fs|ADAM19_ENST00000430702.2_Frame_Shift_Ins_p.A576fs|ADAM19_ENST00000394020.1_Frame_Shift_Ins_p.A845fs			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	843					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAATTTGGTGCGGGGGGAATTG	0.564																																						ENST00000257527.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2524-2529)cccaccfs		ADAM metallopeptidase domain 19																																				SO:0001589	frameshift_variant	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156915296_156915297insG	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2527dupC	5.37:g.156915302_156915302dupG	ENSP00000428654:p.Ala843fs		Somatic				ADAM19_ENST00000430702.2_Frame_Shift_Ins_p.T576fs|ADAM19_ENST00000517905.1_Frame_Shift_Ins_p.T843fs|ADAM19_ENST00000394020.1_Frame_Shift_Ins_p.T845fs	p.T843fs	NM_033274.3	NP_150377.1	WXS	Illumina GAIIx	Phase_I	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		21	2604_2605	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	843					Q9BZL5|Q9UHP2	Frame_Shift_Ins	INS	ENST00000517905.1	37	c.2526_2527insC																																																																																					0.564	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		7	440						7	440	---	---	---	---
STK10	6793	broad.mit.edu	37	5	171517344	171517345	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:171517344_171517345insT	ENST00000176763.5	-	10	1919_1920	c.1576_1577insA	c.(1576-1578)accfs	p.T526fs	STK10_ENST00000517775.1_5'Flank	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	526					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCGCTTGAGGGTTTTTTTGTAC	0.515																																						ENST00000176763.5																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(1576-1578)cctfs		serine/threonine kinase 10				2,4262		0,2,2130						4.6	1.0		dbSNP_131	210	0,8254		0,0,4127	no	frameshift	STK10	NM_005990.3		0,2,6257	A1A1,A1R,RR		0.0,0.0469,0.016				2,12516				SO:0001589	frameshift_variant	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171517344_171517345insT	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.1577dupA	5.37:g.171517351_171517351dupT	ENSP00000176763:p.Thr526fs		Somatic					p.P526fs	NM_005990.3	NP_005981.3	WXS	Illumina GAIIx	Phase_I	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		10	1919_1920	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	526					A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Frame_Shift_Ins	INS	ENST00000176763.5	37	c.1576_1577insA	CCDS34290.1																																																																																				0.515	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		8	861						8	861	---	---	---	---
EXOC2	55770	broad.mit.edu	37	6	637793	637794	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:637793_637794insG	ENST00000230449.4	-	2	160_161	c.25_26insC	c.(25-27)cttfs	p.L9fs	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	9	IPT/TIG.				cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GCCGGTCACAAGGGGGGGTTGT	0.485																																						ENST00000230449.4																			1	Deletion - Frameshift(1)	p.Q6fs*28(1)	ovary(1)	breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.(25-27)tgtfs		exocyst complex component 2																																				SO:0001589	frameshift_variant	55770				exocytosis|protein transport			g.chr6:637793_637794insG	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.26dupC	6.37:g.637800_637800dupG	ENSP00000230449:p.Leu9fs		Somatic				EXOC2_ENST00000448181.3_Intron	p.C9fs	NM_018303.4	NP_060773.3	WXS	Illumina GAIIx	Phase_I	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	2	160_161	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	9			IPT/TIG.		B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Frame_Shift_Ins	INS	ENST00000230449.4	37	c.25_26insC	CCDS34327.1																																																																																				0.485	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		7	266						7	266	---	---	---	---
PRPF4B	8899	broad.mit.edu	37	6	4032356	4032357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:4032356_4032357insG	ENST00000337659.6	+	2	705_706	c.605_606insG	c.(604-609)aaggggfs	p.KG202fs	PRPF4B_ENST00000538861.1_Frame_Shift_Ins_p.KG188fs	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	202	Arg/Lys-rich (basic).				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AAGAAAAGTAAGGGGGGTATTG	0.361																																						ENST00000337659.6																			0				breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22						c.(604-606)aggfs		pre-mRNA processing factor 4B																																				SO:0001589	frameshift_variant	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4032356_4032357insG	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.611dupG	6.37:g.4032362_4032362dupG	ENSP00000337194:p.Lys202fs		Somatic				PRPF4B_ENST00000538861.1_Frame_Shift_Ins_p.R188fs	p.R202fs	NM_003913.4	NP_003904.3	WXS	Illumina GAIIx	Phase_I	Q13523	PRP4B_HUMAN			2	705_706	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	202			Arg/Lys-rich (basic).		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Frame_Shift_Ins	INS	ENST00000337659.6	37	c.605_606insG	CCDS4488.1																																																																																				0.361	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			7	261						7	261	---	---	---	---
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Intron	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:10557409_10557410insC	ENST00000379597.3	+	1	1481				GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000316170.3_Frame_Shift_Ins_p.P252fs|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGAAACCGCCTCCCCCCCATAA	0.485																																						ENST00000316170.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(751-756)ccccccfs		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)																																				SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10557409_10557410insC	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+27340->C	6.37:g.10557416_10557416dupC			Somatic				GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron	p.PP251fs	NM_001491.2	NP_001482.1	WXS	Illumina GAIIx	Phase_I	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	1170_1171	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	253						Frame_Shift_Ins	INS	ENST00000379597.3	37	c.753_754insC	CCDS34338.1																																																																																				0.485	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		18	378						18	378	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-756)gtggggfs	p.VG251fs	PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.VG251fs|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.VG106fs|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(751-753)gggfs		phosphatase and actin regulator 1																																				SO:0001589	frameshift_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13206134_13206135insG	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.759dupG	6.37:g.13206141_13206141dupG	ENSP00000368655:p.Val251fs		Somatic				PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs	p.G251fs			WXS	Illumina GAIIx	Phase_I	Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		7	881_882	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	251					A8K1V2|Q3MJ93|Q5JSJ2	Frame_Shift_Ins	INS	ENST00000379350.1	37	c.752_753insG																																																																																					0.599	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		10	174						10	174	---	---	---	---
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)gcafs	p.A324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.A77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411																																						ENST00000378454.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(970-972)agcfs		doublecortin domain containing 2			,	0,4262		0,0,2131					,	6.1	1.0			246	1,8253		0,1,4126	no	frameshift,frameshift	DCDC2	NM_016356.3,NM_001195610.1	,	0,1,6257	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12515				SO:0001589	frameshift_variant	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24205282_24205283insC	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.971dupG	6.37:g.24205288_24205288dupC	ENSP00000367715:p.Ala324fs		Somatic				DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	p.S324fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	WXS	Illumina GAIIx	Phase_I	Q9UHG0	DCDC2_HUMAN			8	1271_1272	-		Ovarian(999;0.101)	324					Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Frame_Shift_Ins	INS	ENST00000378454.3	37	c.970_971insG	CCDS4550.1																																																																																				0.411	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		26	1207						26	1207	---	---	---	---
HCG17	414778	broad.mit.edu	37	6	30230128	30230129	+	lincRNA	INS	-	-	G	rs2523745	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:30230128_30230129insG	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA					HLA complex group 17 (non-protein coding)																		AGGTGAGACATGGGGGGGCCTG	0.51																																						ENST00000453558.1																			0																																																			414778							g.chr6:30230128_30230129insG	AB023055		6p21	2012-11-02	2008-08-13		ENSG00000241701	ENSG00000270604		"""Long non-coding RNAs"""	31339	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 46"", ""long intergenic non-protein coding RNA 46"""						Standard	NR_052012		Approved	NCRNA00046, LINC00046	uc031snc.1		OTTHUMG00000031114		6.37:g.30230135_30230135dupG			Somatic				HLA-L_ENST00000463348.1_RNA				WXS	Illumina GAIIx	Phase_I					0	126	-									RNA	INS	ENST00000453558.1	37																																																																																						0.510	HCG17-002	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000256054.1	NR_052012		8	219						8	219	---	---	---	---
DDR1	780	broad.mit.edu	37	6	30867830	30867831	+	3'UTR	INS	-	-	G	rs6933271	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:30867830_30867831insG	ENST00000324771.8	+	0	4047_4048				DDR1_ENST00000376569.3_3'UTR|DDR1_ENST00000454612.2_3'UTR|DDR1_ENST00000376570.4_3'UTR|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000361741.4_Frame_Shift_Ins_p.W433fs|DDR1_ENST00000376568.3_3'UTR|DDR1_ENST00000376575.3_3'UTR|DDR1_ENST00000452441.1_3'UTR|DDR1_ENST00000376567.2_3'UTR			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1						branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	TGTACATTTTTGGGGGGAGAGA	0.441																																						ENST00000361741.4																			0				central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29						c.(1297-1299)gggfs		discoidin domain receptor tyrosine kinase 1	Imatinib(DB00619)																																			SO:0001624	3_prime_UTR_variant	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30867830_30867831insG	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.*758->G	6.37:g.30867836_30867836dupG			Somatic				DDR1_ENST00000452441.1_3'UTR|DDR1_ENST00000376568.3_3'UTR|DDR1_ENST00000376570.4_3'UTR|DDR1_ENST00000376567.2_3'UTR|DDR1_ENST00000454612.2_3'UTR|DDR1_ENST00000376575.3_3'UTR|DDR1_ENST00000324771.8_3'UTR|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376569.3_3'UTR	p.G433fs			WXS	Illumina GAIIx	Phase_I	Q08345	DDR1_HUMAN			12	1492_1493	+			0					B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Frame_Shift_Ins	INS	ENST00000324771.8	37	c.1297_1298insG	CCDS34385.1																																																																																				0.441	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		7	558						7	558	---	---	---	---
BRD2	6046	broad.mit.edu	37	6	32948228	32948229	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:32948228_32948229insC	ENST00000374825.4	+	12	3957_3958	c.2256_2257insC	c.(2257-2259)cccfs	p.P753fs	BRD2_ENST00000395289.2_Frame_Shift_Ins_p.P788fs|BRD2_ENST00000449085.2_Frame_Shift_Ins_p.P706fs|BRD2_ENST00000443797.2_Frame_Shift_Ins_p.P633fs|BRD2_ENST00000395287.1_Frame_Shift_Ins_p.P788fs|BRD2_ENST00000374831.4_Frame_Shift_Ins_p.P753fs	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	753					chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						CTACTAAAAAGCCCCCCAAGAA	0.426																																						ENST00000395289.2																			0				central_nervous_system(3)|stomach(2)	5						c.(2359-2364)aaccccfs		bromodomain containing 2																																				SO:0001589	frameshift_variant	6046				spermatogenesis	nucleus	protein serine/threonine kinase activity	g.chr6:32948228_32948229insC	X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.2262dupC	6.37:g.32948234_32948234dupC	ENSP00000363958:p.Pro753fs		Somatic				BRD2_ENST00000449085.2_Frame_Shift_Ins_p.NP705fs|BRD2_ENST00000443797.2_Frame_Shift_Ins_p.NP632fs|BRD2_ENST00000374825.4_Frame_Shift_Ins_p.NP752fs|BRD2_ENST00000374831.4_Frame_Shift_Ins_p.NP752fs|BRD2_ENST00000395287.1_Frame_Shift_Ins_p.NP787fs	p.NP787fs			WXS	Illumina GAIIx	Phase_I	P25440	BRD2_HUMAN			13	3962_3963	+			752			ET.|Poly-Ser.|Ser-rich.		A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Frame_Shift_Ins	INS	ENST00000374825.4	37	c.2361_2362insC	CCDS4762.1																																																																																				0.426	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			7	268						7	268	---	---	---	---
SYNGAP1	8831	broad.mit.edu	37	6	33405504	33405505	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:33405504_33405505insC	ENST00000418600.2	+	8	923_924	c.822_823insC	c.(823-825)cccfs	p.P275fs	SYNGAP1_ENST00000496374.1_3'UTR|MIR5004_ENST00000579078.1_RNA|SYNGAP1_ENST00000428982.2_Frame_Shift_Ins_p.P216fs|SYNGAP1_ENST00000293748.5_Frame_Shift_Ins_p.P275fs	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	275	C2.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCCGGGAGCTGCCCCCCAAGAA	0.599																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(820-825)ctccccfs		synaptic Ras GTPase activating protein 1																																				SO:0001589	frameshift_variant	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33405504_33405505insC	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.828dupC	6.37:g.33405510_33405510dupC	ENSP00000403636:p.Pro275fs		Somatic				SYNGAP1_ENST00000293748.5_Frame_Shift_Ins_p.LP274fs|SYNGAP1_ENST00000428982.2_Frame_Shift_Ins_p.LP215fs|SYNGAP1_ENST00000496374.1_3'UTR	p.LP274fs	NM_006772.2	NP_006763.2	WXS	Illumina GAIIx	Phase_I	Q96PV0	SYGP1_HUMAN			8	923_924	+			274			C2.		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Frame_Shift_Ins	INS	ENST00000418600.2	37	c.822_823insC	CCDS34434.2																																																																																				0.599	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		13	245						13	245	---	---	---	---
UHRF1BP1	54887	broad.mit.edu	37	6	34791081	34791082	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:34791081_34791082insC	ENST00000192788.5	+	4	465_466	c.294_295insC	c.(295-297)cccfs	p.P99fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.P99fs|Y_RNA_ENST00000383990.1_RNA	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	99							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGATCCTCGGCCCCCCAATGG	0.446																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(292-297)cgccccfs		UHRF1 binding protein 1																																				SO:0001589	frameshift_variant	54887							g.chr6:34791081_34791082insC	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.300dupC	6.37:g.34791087_34791087dupC	ENSP00000192788:p.Pro99fs		Somatic				UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.RP98fs	p.RP98fs	NM_017754.3	NP_060224.3	WXS	Illumina GAIIx	Phase_I	Q6BDS2	URFB1_HUMAN			4	465_466	+			98					Q9NXE0	Frame_Shift_Ins	INS	ENST00000192788.5	37	c.294_295insC	CCDS43455.1																																																																																				0.446	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		9	630						9	630	---	---	---	---
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C	rs587778337		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:35425714_35425715insC	ENST00000229769.2	+	4	1107_1108	c.922_923insC	c.(922-924)gccfs	p.A308fs		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	308	Interaction with FANCC.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATTGGAGGATGCCCCCCCAGTT	0.54			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000229769.2			yes	Rec		Fanconi anaemia E	6	6p21-p22	2178	"""N, F, S"""	"""Fanconi anemia, complementation group E"""			L		"""AML, leukemia"""			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						c.(922-924)cccfs	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group E				16,4248		0,16,2116						-5.8	0.0		dbSNP_130	75	14,8240		0,14,4113	no	frameshift	FANCE	NM_021922.2		0,30,6229	A1A1,A1R,RR		0.1696,0.3752,0.2397				30,12488				SO:0001589	frameshift_variant	2178	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr6:35425714_35425715insC	AF265210	CCDS4805.1	6p22-p21	2014-09-17			ENSG00000112039	ENSG00000112039		"""Fanconi anemia, complementation groups"""	3586	protein-coding gene	gene with protein product		613976		FACE		7662964, 11001585	Standard	XM_005248885		Approved	FAE	uc003oko.1	Q9HB96	OTTHUMG00000014565	ENST00000229769.2:c.929dupC	6.37:g.35425721_35425721dupC	ENSP00000229769:p.Ala308fs		Somatic					p.P308fs	NM_021922.2	NP_068741.1	WXS	Illumina GAIIx	Phase_I	Q9HB96	FANCE_HUMAN			4	1107_1108	+			308			Interaction with FANCC.		A8K907|Q4ZGH2	Frame_Shift_Ins	INS	ENST00000229769.2	37	c.922_923insC	CCDS4805.1																																																																																				0.540	FANCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040282.1			12	128						12	128	---	---	---	---
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)ggafs	p.G623fs	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623										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)		TCACTTCCTGTCCCCCCCACAC	0.401																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(1867-1869)gcafs		KIAA0408			,	4,4260		0,4,2128					,	1.5	0.5			231	7,8247		0,7,4120	no	frameshift,utr-3	KIAA0408,C6orf174	NM_014702.4,NM_001012279.2	,	0,11,6248	A1A1,A1R,RR		0.0848,0.0938,0.0879	,	,		11,12507				SO:0001589	frameshift_variant	9729						protein binding	g.chr6:127767595_127767596insC	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.1869dupG	6.37:g.127767602_127767602dupC	ENSP00000435150:p.Gly623fs		Somatic				SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	p.A623fs	NM_014702.4	NP_055517.3	WXS	Illumina GAIIx	Phase_I	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	5	2204_2205	-			623					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Frame_Shift_Ins	INS	ENST00000483725.3	37	c.1868_1869insG	CCDS34531.1																																																																																				0.401	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		11	401						11	401	---	---	---	---
UST	10090	broad.mit.edu	37	6	149395141	149395142	+	Frame_Shift_Ins	INS	-	-	C	rs200339078		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:149395141_149395142insC	ENST00000367463.4	+	8	1213_1214	c.1110_1111insC	c.(1111-1113)cccfs	p.P371fs	UST_ENST00000466695.1_3'UTR	NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	371					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		ACGTCAGCAAGCCCCCCCTGAG	0.49																																						ENST00000367463.4																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12						c.(1108-1113)aaccccfs		uronyl-2-sulfotransferase																																				SO:0001589	frameshift_variant	10090				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity	g.chr6:149395141_149395142insC	AB020316	CCDS5213.1	6q25.1	2008-02-05			ENSG00000111962	ENSG00000111962		"""Sulfotransferases, membrane-bound"""	17223	protein-coding gene	gene with protein product		610752				10187838	Standard	NM_005715		Approved	2OST	uc003qmg.3	Q9Y2C2	OTTHUMG00000016135	ENST00000367463.4:c.1117dupC	6.37:g.149395148_149395148dupC	ENSP00000356433:p.Pro371fs		Somatic				UST_ENST00000466695.1_3'UTR	p.NP370fs	NM_005715.2	NP_005706.1	WXS	Illumina GAIIx	Phase_I	Q9Y2C2	UST_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)	8	1213_1214	+		Ovarian(120;0.0907)	370					B2RCX6	Frame_Shift_Ins	INS	ENST00000367463.4	37	c.1110_1111insC	CCDS5213.1																																																																																				0.490	UST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043363.1	NM_005715		7	153						7	153	---	---	---	---
FGFR1OP	11116	broad.mit.edu	37	6	167438321	167438322	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:167438321_167438322insC	ENST00000366847.4	+	9	1089_1090	c.858_859insC	c.(859-861)cccfs	p.P287fs	RP11-517H2.6_ENST00000609590.1_RNA|FGFR1OP_ENST00000349556.4_Frame_Shift_Ins_p.P267fs	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	287					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein tyrosine kinase activity (GO:0061099)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|protein tyrosine kinase inhibitor activity (GO:0030292)			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		TCTCGGATGCACCCCCCTTAAA	0.495			T	FGFR1	"""MPD, NHL"""																																	ENST00000366847.3				Dom	yes		6	6q27	11116	T	FGFR1 oncogene partner (FOP)			L	FGFR1		"""MPD, NHL"""		0				large_intestine(2)|ovary(1)|stomach(1)	4						c.(856-861)gcccccfs		FGFR1 oncogene partner																																				SO:0001589	frameshift_variant	11116				G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:167438321_167438322insC	Y18046	CCDS5296.1, CCDS5297.1, CCDS75550.1	6q27	2008-02-05			ENSG00000213066	ENSG00000213066			17012	protein-coding gene	gene with protein product		605392				9949182, 10373756	Standard	NM_007045		Approved	FOP	uc003qvj.3	O95684	OTTHUMG00000016011	ENST00000366847.4:c.864dupC	6.37:g.167438327_167438327dupC	ENSP00000355812:p.Pro287fs		Somatic				FGFR1OP_ENST00000349556.4_Frame_Shift_Ins_p.AP266fs	p.AP286fs	NM_007045.2	NP_008976.1	WXS	Illumina GAIIx	Phase_I	O95684	FR1OP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)	9	1089_1090	+		Breast(66;1.48e-05)|Ovarian(120;0.0607)	286					A8K1D1|B2R705|Q49AI0|Q5R3F6|Q96EW1	Frame_Shift_Ins	INS	ENST00000366847.4	37	c.858_859insC	CCDS5296.1																																																																																				0.495	FGFR1OP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043099.2	NM_007045		10	475						10	475	---	---	---	---
EIF3B	8662	broad.mit.edu	37	7	2404085	2404086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr7:2404085_2404086insG	ENST00000360876.4	+	6	1134_1135	c.1078_1079insG	c.(1078-1080)tggfs	p.W360fs	EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.W360fs	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CATTGCTCTATGGGGGGGAGAG	0.475																																						ENST00000360876.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24						c.(1078-1080)gggfs		eukaryotic translation initiation factor 3, subunit B																																				SO:0001589	frameshift_variant	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2404085_2404086insG	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1085dupG	7.37:g.2404092_2404092dupG	ENSP00000354125:p.Trp360fs		Somatic				EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.G360fs	p.G360fs	NM_001037283.1	NP_001032360.1	WXS	Illumina GAIIx	Phase_I	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	6	1134_1135	+		Ovarian(82;0.0253)	360			Sufficient for interaction with EIF3E.			Frame_Shift_Ins	INS	ENST00000360876.4	37	c.1078_1079insG	CCDS5332.1																																																																																				0.475	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			9	181						9	181	---	---	---	---
ETV1	2115	broad.mit.edu	37	7	13975472	13975473	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr7:13975472_13975473insG	ENST00000430479.1	-	8	1081_1082	c.414_415insC	c.(412-417)cccacafs	p.T139fs	ETV1_ENST00000405192.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000343495.5_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000403685.1_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000242066.5_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000405358.4_Frame_Shift_Ins_p.T153fs|ETV1_ENST00000420159.2_Frame_Shift_Ins_p.T81fs|ETV1_ENST00000403527.1_Frame_Shift_Ins_p.T99fs|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000405218.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000399357.3_Intron	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	139					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTGGATGGTGTGGGGGGGTTGG	0.53			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	ENST00000343495.5				Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""		"""Ewing sarcoma, prostate"""	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(358-363)cccaccfs		ets variant 1																																				SO:0001589	frameshift_variant	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13975472_13975473insG		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.415dupC	7.37:g.13975479_13975479dupG	ENSP00000405327:p.Thr139fs		Somatic				ETV1_ENST00000403527.1_Frame_Shift_Ins_p.T99fs|ETV1_ENST00000405218.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000405192.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000403685.1_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000242066.5_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000420159.2_Frame_Shift_Ins_p.T81fs|ETV1_ENST00000405358.4_Frame_Shift_Ins_p.T153fs|ETV1_ENST00000430479.1_Frame_Shift_Ins_p.T139fs	p.T121fs			WXS	Illumina GAIIx	Phase_I	P50549	ETV1_HUMAN			7	1098_1099	-			139					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Frame_Shift_Ins	INS	ENST00000430479.1	37	c.360_361insC	CCDS55088.1																																																																																				0.530	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		10	202						10	202	---	---	---	---
OSBPL3	26031	broad.mit.edu	37	7	24911654	24911655	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr7:24911654_24911655insC	ENST00000313367.2	-	3	581_582	c.130_131insG	c.(130-132)gagfs	p.E44fs	OSBPL3_ENST00000353930.1_Frame_Shift_Ins_p.E44fs|OSBPL3_ENST00000431825.2_Frame_Shift_Ins_p.E44fs|OSBPL3_ENST00000396429.1_Frame_Shift_Ins_p.E44fs|OSBPL3_ENST00000396431.1_Frame_Shift_Ins_p.E44fs|OSBPL3_ENST00000352860.1_Frame_Shift_Ins_p.E44fs|OSBPL3_ENST00000409069.1_Frame_Shift_Ins_p.E44fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	44					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GTAATTCATCTCCCCCCTCAGT	0.431																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(130-132)gatfs		oxysterol binding protein-like 3																																				SO:0001589	frameshift_variant	26031				lipid transport		lipid binding|protein binding	g.chr7:24911654_24911655insC	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.131dupG	7.37:g.24911660_24911660dupC	ENSP00000315410:p.Glu44fs		Somatic				OSBPL3_ENST00000409069.1_Frame_Shift_Ins_p.D44fs|OSBPL3_ENST00000396431.1_Frame_Shift_Ins_p.D44fs|OSBPL3_ENST00000353930.1_Frame_Shift_Ins_p.D44fs|OSBPL3_ENST00000396429.1_Frame_Shift_Ins_p.D44fs|OSBPL3_ENST00000352860.1_Frame_Shift_Ins_p.D44fs|OSBPL3_ENST00000431825.2_Frame_Shift_Ins_p.D44fs	p.D44fs	NM_015550.2	NP_056365.1	WXS	Illumina GAIIx	Phase_I	Q9H4L5	OSBL3_HUMAN			3	581_582	-			44					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Frame_Shift_Ins	INS	ENST00000313367.2	37	c.130_131insG	CCDS5390.1																																																																																				0.431	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			8	173						8	173	---	---	---	---
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-381)atccccfs	p.IP126fs	FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.IP179fs|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_5'UTR	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAATT	0.446																																						ENST00000242209.4																			0				central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39						c.(376-378)accfs		FK506 binding protein 9, 63 kDa																																				SO:0001589	frameshift_variant	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33014803_33014804insC	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.384dupC	7.37:g.33014810_33014810dupC	ENSP00000242209:p.Ile126fs		Somatic				FKBP9_ENST00000538443.1_5'UTR|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs	p.T126fs	NM_007270.3	NP_009201.2	WXS	Illumina GAIIx	Phase_I	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		3	546_547	+			126			PPIase FKBP-type 1.		B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Frame_Shift_Ins	INS	ENST00000242209.4	37	c.377_378insC	CCDS5439.1																																																																																				0.446	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		8	212						8	212	---	---	---	---
TRGC2	6967	broad.mit.edu	37	7	38284915	38284934	+	RNA	DEL	TGAGTGTGTCTGTGACTGTG	TGAGTGTGTCTGTGACTGTG	-	rs543317860|rs149178316|rs376724176|rs147429736|rs369527599|rs12701613|rs371351064|rs375819662|rs548399588	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr7:38284915_38284934delTGAGTGTGTCTGTGACTGTG	ENST00000436911.2	-	0	330							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										tgtgtgtgtctgagtgtgtctgtgactgtgtgtAATTAAA	0.377																																						ENST00000436911.2																			0																																																			6967							g.chr7:38284915_38284934delTGAGTGTGTCTGTGACTGTG	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38284915_38284934delTGAGTGTGTCTGTGACTGTG			Somatic								WXS	Illumina GAIIx	Phase_I					0	330	-									RNA	DEL	ENST00000436911.2	37																																																																																						0.377	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		7	81						7	81	---	---	---	---
BAZ1B	9031	broad.mit.edu	37	7	72892348	72892349	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr7:72892348_72892349delGT	ENST00000339594.4	-	7	1780_1781	c.1442_1443delAC	c.(1441-1443)tacfs	p.Y482fs	BAZ1B_ENST00000404251.1_Frame_Shift_Del_p.Y482fs	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	482	Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTTCTTTGTAGTATGCAATGAG	0.5																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1441-1443)tfs		bromodomain adjacent to zinc finger domain, 1B																																				SO:0001589	frameshift_variant	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72892348_72892349delGT	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.1442_1443delAC	7.37:g.72892348_72892349delGT	ENSP00000342434:p.Tyr482fs		Somatic				BAZ1B_ENST00000404251.1_Frame_Shift_Del_p.Y482fs	p.Y482fs	NM_032408.3	NP_115784.1	WXS	Illumina GAIIx	Phase_I	Q9UIG0	BAZ1B_HUMAN			7	1780_1781	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	482			Lys-rich.		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Frame_Shift_Del	DEL	ENST00000339594.4	37	c.1442_1443delAC	CCDS5549.1																																																																																				0.500	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		8	231						8	231	---	---	---	---
FBXO24	26261	broad.mit.edu	37	7	100187685	100187686	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr7:100187685_100187686insC	ENST00000241071.6	+	2	447_448	c.125_126insC	c.(124-129)ttccccfs	p.FP42fs	FBXO24_ENST00000360609.2_Frame_Shift_Ins_p.FP42fs|FBXO24_ENST00000465843.1_Frame_Shift_Ins_p.FP42fs|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000468962.1_Frame_Shift_Ins_p.FP30fs|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000427939.2_Frame_Shift_Ins_p.FP80fs|FBXO24_ENST00000498195.1_3'UTR	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	42	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ATCCAGTTGTTCCCCCCAGAGC	0.569																																						ENST00000241071.6																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(124-126)tccfs		F-box protein 24																																				SO:0001589	frameshift_variant	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100187685_100187686insC	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.131dupC	7.37:g.100187691_100187691dupC	ENSP00000241071:p.Phe42fs		Somatic				PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Frame_Shift_Ins_p.S80fs|FBXO24_ENST00000465843.1_Frame_Shift_Ins_p.S42fs|FBXO24_ENST00000360609.2_Frame_Shift_Ins_p.S42fs|FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000468962.1_Frame_Shift_Ins_p.S30fs	p.S42fs	NM_033506.2	NP_277041.1	WXS	Illumina GAIIx	Phase_I	O75426	FBX24_HUMAN			2	447_448	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		42			F-box.		A4D2D4|B4DX91|B4DY42|Q9H0G1	Frame_Shift_Ins	INS	ENST00000241071.6	37	c.125_126insC	CCDS5698.1																																																																																				0.569	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			10	359						10	359	---	---	---	---
PLOD3	8985	broad.mit.edu	37	7	100856125	100856126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr7:100856125_100856126insC	ENST00000223127.3	-	8	1274_1275	c.876_877insG	c.(874-879)gggcagfs	p.Q293fs		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	293					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CACCTCACCTGCCCCCCCGGGA	0.673																																						ENST00000223127.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31						c.(874-879)ggagccfs		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	Succinic acid(DB00139)|Vitamin C(DB00126)			29,4225		1,27,2099						4.0	1.0			29	20,8212		0,20,4096	no	frameshift	PLOD3	NM_001084.4		1,47,6195	A1A1,A1R,RR		0.243,0.6817,0.3924				49,12437				SO:0001589	frameshift_variant	8985				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr7:100856125_100856126insC	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.877dupG	7.37:g.100856132_100856132dupC	ENSP00000223127:p.Gln293fs		Somatic					p.A293fs	NM_001084.4	NP_001075.1	WXS	Illumina GAIIx	Phase_I	O60568	PLOD3_HUMAN			8	1274_1275	-	Lung NSC(181;0.168)|all_lung(186;0.215)		293					B2R6W6|Q540C3	Frame_Shift_Ins	INS	ENST00000223127.3	37	c.876_877insG	CCDS5715.1																																																																																				0.673	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			8	43						8	43	---	---	---	---
ZNF277	11179	broad.mit.edu	37	7	111958300	111958300	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr7:111958300delT	ENST00000361822.3	+	5	658	c.529delT	c.(529-531)tttfs	p.F177fs	ZNF277_ENST00000450657.1_Frame_Shift_Del_p.F177fs	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	177					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						CGTTTGTATGTTTTGCAATGA	0.338																																						ENST00000361822.3																			0				breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(529-531)ttfs		zinc finger protein 277							121.0	112.0	115.0					7																	111958300		2203	4300	6503	SO:0001589	frameshift_variant	11179					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:111958300delT	AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"""zinc finger protein (C2H2 type) 277"", ""zinc finger protein 277 pseudogene"""	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.529delT	7.37:g.111958300delT	ENSP00000354501:p.Phe177fs		Somatic				ZNF277_ENST00000450657.1_Frame_Shift_Del_p.F177fs	p.F177fs	NM_021994.2	NP_068834.2	WXS	Illumina GAIIx	Phase_I	Q9NRM2	ZN277_HUMAN			5	658	+			177					Q75MZ2|Q75MZ3|Q8WY14	Frame_Shift_Del	DEL	ENST00000361822.3	37	c.529delT	CCDS5755.2																																																																																				0.338	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316843.2	NM_021994		35	200						35	200	---	---	---	---
FSCN3	29999	broad.mit.edu	37	7	127235625	127235626	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr7:127235625_127235626insC	ENST00000265825.5	+	2	628_629	c.409_410insC	c.(409-411)accfs	p.T137fs	GCC1_ENST00000497650.1_5'Flank|FSCN3_ENST00000420086.2_Frame_Shift_Ins_p.T3fs	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	137						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CCACATGTGGACCCCCCGACCA	0.594																																						ENST00000265825.5																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(409-411)cccfs		fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)																																				SO:0001589	frameshift_variant	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127235625_127235626insC		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.415dupC	7.37:g.127235631_127235631dupC	ENSP00000265825:p.Thr137fs		Somatic				FSCN3_ENST00000420086.2_Frame_Shift_Ins_p.P3fs	p.P137fs	NM_020369.2	NP_065102.1	WXS	Illumina GAIIx	Phase_I	Q9NQT6	FSCN3_HUMAN			2	628_629	+			137					A4D0Z2|A6NLL7|B2RA62|B4DU68	Frame_Shift_Ins	INS	ENST00000265825.5	37	c.409_410insC	CCDS34746.1																																																																																				0.594	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		7	144						7	144	---	---	---	---
PAX4	5078	broad.mit.edu	37	7	127255556	127255557	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr7:127255556_127255557insC	ENST00000341640.2	-	1	223_224	c.18_19insG	c.(16-21)gggctcfs	p.L7fs	PAX4_ENST00000463946.1_5'UTR|PAX4_ENST00000378740.2_Frame_Shift_Ins_p.L7fs|PAX4_ENST00000338516.3_Frame_Shift_Ins_p.L15fs	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	15	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TTCACAAAGAGCCCCCCAAGCT	0.609																																					Ovarian(113;737 1605 7858 27720 34092)	ENST00000341640.2																			0				cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(16-21)ggtcttfs		paired box 4																																				SO:0001589	frameshift_variant	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127255556_127255557insC		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.19dupG	7.37:g.127255562_127255562dupC	ENSP00000339906:p.Leu7fs		Somatic				PAX4_ENST00000338516.3_Frame_Shift_Ins_p.L15fs|PAX4_ENST00000378740.2_Frame_Shift_Ins_p.L7fs|PAX4_ENST00000463946.1_5'UTR	p.L7fs	NM_006193.2	NP_006184.2	WXS	Illumina GAIIx	Phase_I	O43316	PAX4_HUMAN			1	223_224	-			15			Paired.		O95161|Q6B0H0	Frame_Shift_Ins	INS	ENST00000341640.2	37	c.18_19insG	CCDS5797.1																																																																																				0.609	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			7	109						7	109	---	---	---	---
ZNF398	57541	broad.mit.edu	37	7	148876152	148876153	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr7:148876152_148876153insC	ENST00000475153.1	+	6	1455_1456	c.1188_1189insC	c.(1189-1191)cccfs	p.P397fs	ZNF398_ENST00000491174.1_Frame_Shift_Ins_p.P226fs|ZNF398_ENST00000540950.1_Frame_Shift_Ins_p.P402fs|ZNF398_ENST00000483892.1_Frame_Shift_Ins_p.P226fs|ZNF398_ENST00000426851.2_Frame_Shift_Ins_p.P226fs|ZNF398_ENST00000335901.4_Frame_Shift_Ins_p.P226fs|ZNF398_ENST00000420008.2_Frame_Shift_Ins_p.P226fs			Q8TD17	ZN398_HUMAN	zinc finger protein 398	397					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CCAGCGAGACACCCCCCACCTG	0.589																																						ENST00000420008.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25						c.(673-678)acccccfs		zinc finger protein 398																																				SO:0001589	frameshift_variant	57541				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148876152_148876153insC	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"""Zinc fingers, C2H2-type"", ""-"""	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.1194dupC	7.37:g.148876158_148876158dupC	ENSP00000420418:p.Pro397fs		Somatic				ZNF398_ENST00000475153.1_Frame_Shift_Ins_p.TP396fs|ZNF398_ENST00000426851.2_Frame_Shift_Ins_p.TP225fs|ZNF398_ENST00000540950.1_Frame_Shift_Ins_p.TP401fs|ZNF398_ENST00000483892.1_Frame_Shift_Ins_p.TP225fs|ZNF398_ENST00000335901.4_Frame_Shift_Ins_p.TP225fs|ZNF398_ENST00000491174.1_Frame_Shift_Ins_p.TP225fs	p.TP225fs	NM_170686.2	NP_733787.1	WXS	Illumina GAIIx	Phase_I	Q8TD17	ZN398_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00143)		6	1463_1464	+	Melanoma(164;0.15)		396					A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Frame_Shift_Ins	INS	ENST00000475153.1	37	c.675_676insC	CCDS5894.1																																																																																				0.589	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			8	224						8	224	---	---	---	---
MYOM2	9172	broad.mit.edu	37	8	2088682	2088683	+	Frame_Shift_Ins	INS	-	-	G	rs34620424	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr8:2088682_2088683insG	ENST00000262113.4	+	33	3978_3979	c.3837_3838insG	c.(3838-3840)gggfs	p.G1280fs	MYOM2_ENST00000523438.1_Frame_Shift_Ins_p.G705fs|MYOM2_ENST00000520298.1_3'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1280					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATATGAGAATCGGGGGGAGTGA	0.446																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(3835-3840)atggggfs		myomesin 2																																				SO:0001589	frameshift_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2088682_2088683insG		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3843dupG	8.37:g.2088688_2088688dupG	ENSP00000262113:p.Gly1280fs		Somatic				MYOM2_ENST00000523438.1_Frame_Shift_Ins_p.MG704fs|MYOM2_ENST00000520298.1_3'UTR	p.MG1279fs	NM_003970.2	NP_003961.2	WXS	Illumina GAIIx	Phase_I	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	33	3978_3979	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	1279					Q7Z3Y2	Frame_Shift_Ins	INS	ENST00000262113.4	37	c.3837_3838insG	CCDS5957.1																																																																																				0.446	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		12	376						12	376	---	---	---	---
ADRA1A	148	broad.mit.edu	37	8	26722382	26722383	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr8:26722382_26722383insC	ENST00000519229.1	-	1	110_111	c.104_105insG	c.(103-105)ggcfs	p.G35fs	ADRA1A_ENST00000380572.3_Frame_Shift_Ins_p.G35fs|ADRA1A_ENST00000354550.4_Frame_Shift_Ins_p.G35fs|ADRA1A_ENST00000380586.1_Frame_Shift_Ins_p.G35fs|ADRA1A_ENST00000380587.1_Frame_Shift_Ins_p.G35fs|ADRA1A_ENST00000380581.2_Frame_Shift_Ins_p.G35fs|ADRA1A_ENST00000380573.3_Frame_Shift_Ins_p.G35fs|ADRA1A_ENST00000358857.5_Frame_Shift_Ins_p.G35fs|ADRA1A_ENST00000276393.4_Frame_Shift_Ins_p.G35fs|ADRA1A_ENST00000380582.3_Frame_Shift_Ins_p.G35fs			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	105				MTFRDLLSVSFEGPRPDSSAGGSSAGGGGGSAGGAAPSEGP AVGGVPGGAGGGGGVVGAGSGEDNRSSAGEPGSAGAGGDVN G -> MAAALRSVMMAGYLSEWRTPTYRSTEMVQRLRMEAV QHSTS (in Ref. 1). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	AAAGAATGAGGCCCCCCAAGAT	0.569																																						ENST00000380573.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36						c.(103-105)gctfs		adrenoceptor alpha 1A	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)																																			SO:0001589	frameshift_variant	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26722382_26722383insC	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.105dupG	8.37:g.26722388_26722388dupC	ENSP00000430793:p.Gly35fs		Somatic				ADRA1A_ENST00000380587.1_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000354550.4_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000276393.4_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000358857.5_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000380581.2_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000380586.1_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000380572.3_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000519229.1_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000380582.3_Frame_Shift_Ins_p.A35fs	p.A35fs			WXS	Illumina GAIIx	Phase_I	P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	2	1127_1128	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	35					Q9NPY0	Frame_Shift_Ins	INS	ENST00000519229.1	37	c.104_105insG																																																																																					0.569	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303		7	155						7	155	---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)ccafs	p.P1552fs	ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs|ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1552					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4654-4656)cccfs		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)																																				SO:0001589	frameshift_variant	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68128855_68128856insG	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4656dupC	8.37:g.68128862_68128862dupG	ENSP00000262215:p.Pro1552fs		Somatic				ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs|ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs	p.P1552fs	NM_006421.4	NP_006412.2	WXS	Illumina GAIIx	Phase_I	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		33	5044_5045	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1552					Q9NV46|Q9UFV2|Q9UNL0	Frame_Shift_Ins	INS	ENST00000262215.3	37	c.4655_4656insC	CCDS6199.1																																																																																				0.421	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		8	138						8	138	---	---	---	---
NBN	4683	broad.mit.edu	37	8	90955480	90955481	+	Splice_Site	DEL	CC	CC	-			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr8:90955480_90955481delCC	ENST00000265433.3	-	14	2338_2339	c.2184_2185delGG	c.(2182-2187)gaggta>gata	p.EV728fs	NBN_ENST00000409330.1_Splice_Site_p.EV646fs	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	728					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TTCCTACTAACCTCCATTTCCT	0.401								Homologous recombination																														ENST00000265433.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.e14+1	Homologous recombination	nibrin																																				SO:0001630	splice_region_variant	4683				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90955480_90955481delCC	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.2184+1GG>-	8.37:g.90955480_90955481delCC			Somatic				NBN_ENST00000409330.1_Splice_Site_p.EV646_splice	p.EV728_splice	NM_002485.4	NP_002476.2	WXS	Illumina GAIIx	Phase_I	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		14	2338_2339	-			728					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Splice_Site	DEL	ENST00000265433.3	37	c.2184_splice	CCDS6249.1																																																																																				0.401	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688	Frame_Shift_Del	55	86						55	86	---	---	---	---
ODF1	4956	broad.mit.edu	37	8	103572984	103572992	+	In_Frame_Del	DEL	TGCAGCCCC	TGCAGCCCC	-	rs3018444|rs386728346|rs62636531	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr8:103572984_103572992delTGCAGCCCC	ENST00000285402.3	+	2	781_789	c.625_633delTGCAGCCCC	c.(625-633)tgcagccccdel	p.CSP215del	ODF1_ENST00000518835.1_Splice_Site_p.MQ3del	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	215	C-X-P repeat region.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CACTTCTCCTtgcagcccctgcagcccct	0.584																																						ENST00000285402.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(625-633)del		outer dense fiber of sperm tails 1																																				SO:0001651	inframe_deletion	4956				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity	g.chr8:103572984_103572992delTGCAGCCCC	M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"""Heat shock proteins / HSPB"""	8113	protein-coding gene	gene with protein product	"""cancer/testis antigen 133"""	182878	"""outer dense fibre of sperm tails 1"""			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.625_633delTGCAGCCCC	8.37:g.103572993_103573001delTGCAGCCCC	ENSP00000285402:p.Cys215_Pro217del		Somatic				ODF1_ENST00000518835.1_Splice_Site_p.3_splice	p.CSP215del	NM_024410.3	NP_077721.2	WXS	Illumina GAIIx	Phase_I	Q14990	ODFP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)		2	781_789	+	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		215			C-X-P repeat region.		Q3SX72	In_Frame_Del	DEL	ENST00000285402.3	37	c.625_633delTGCAGCCCC	CCDS6293.1																																																																																				0.584	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1			10	49						10	49	---	---	---	---
KLHL38	340359	broad.mit.edu	37	8	124664150	124664151	+	Frame_Shift_Ins	INS	-	-	C	rs201958346		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr8:124664150_124664151insC	ENST00000325995.7	-	1	1039_1040	c.1016_1017insG	c.(1015-1017)ggcfs	p.G339fs	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	339										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TGACAGCCATGCCCCCCAGCAC	0.589																																						ENST00000325995.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						c.(1015-1017)gatfs		kelch-like family member 38																																				SO:0001589	frameshift_variant	340359							g.chr8:124664150_124664151insC		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.1017dupG	8.37:g.124664156_124664156dupC	ENSP00000321475:p.Gly339fs		Somatic				CTD-2552K11.2_ENST00000524355.1_RNA	p.D339fs	NM_001081675.2	NP_001075144.2	WXS	Illumina GAIIx	Phase_I	Q2WGJ6	KLH38_HUMAN			1	1039_1040	-			339					A0PK12	Frame_Shift_Ins	INS	ENST00000325995.7	37	c.1016_1017insG	CCDS43766.1																																																																																				0.589	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			7	215						7	215	---	---	---	---
MIR1208	100302281	broad.mit.edu	37	8	129162432	129162433	+	RNA	INS	-	-	G	rs2648841	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr8:129162432_129162433insG	ENST00000408334.1	+	0	71_72					NR_031613.1				microRNA 1208																		ACCACTGTGGTGGGGGGGAGTG	0.564																																						ENST00000408334.1																			0																																																			100302281							g.chr8:129162432_129162433insG			8q24.21	2011-09-12		2008-12-18	ENSG00000221261	ENSG00000221261		"""ncRNAs / Micro RNAs"""	35274	non-coding RNA	RNA, micro				MIRN1208			Standard	NR_031613		Approved	hsa-mir-1208	uc022bbk.1				8.37:g.129162439_129162439dupG			Somatic						NR_031613.1		WXS	Illumina GAIIx	Phase_I					0	71_72	+									RNA	INS	ENST00000408334.1	37																																																																																						0.564	MIR1208-201	KNOWN	basic	miRNA	miRNA		NR_031613		7	81						7	81	---	---	---	---
MRPL50	54534	broad.mit.edu	37	9	104152774	104152775	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr9:104152774_104152775insG	ENST00000374865.4	-	2	471_472	c.450_451insC	c.(448-453)cccaatfs	p.N151fs	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	151						mitochondrion (GO:0005739)|ribosome (GO:0005840)		p.P150P(1)		large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ATTTTCAAATTGGGGGGCAGAT	0.401																																						ENST00000374865.4																			1	Substitution - coding silent(1)	p.P150P(1)	prostate(1)	large_intestine(1)|lung(2)|prostate(2)	5						c.(448-453)ccatttfs		mitochondrial ribosomal protein L50																																				SO:0001589	frameshift_variant	54534					mitochondrion|ribosome		g.chr9:104152774_104152775insG	AK000500	CCDS6753.1	9q31.1	2012-11-14			ENSG00000136897	ENSG00000136897		"""Mitochondrial ribosomal proteins / large subunits"""	16654	protein-coding gene	gene with protein product	"""mitochondrial 39S ribosomal protein L50"""	611854					Standard	NM_019051		Approved	FLJ20493, MRP-L50	uc004bbe.2	Q8N5N7	OTTHUMG00000020384	ENST00000374865.4:c.451dupC	9.37:g.104152780_104152780dupG	ENSP00000363999:p.Asn151fs		Somatic				MRPL50_ENST00000539624.1_Intron	p.F151fs	NM_019051.2	NP_061924.1	WXS	Illumina GAIIx	Phase_I	Q8N5N7	RM50_HUMAN			2	471_472	-		Acute lymphoblastic leukemia(62;0.0559)	151					B7Z358|Q5T7E0|Q9NX15	Frame_Shift_Ins	INS	ENST00000374865.4	37	c.450_451insC	CCDS6753.1																																																																																				0.401	MRPL50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053450.1	NM_019051		13	196						13	196	---	---	---	---
TNC	3371	broad.mit.edu	37	9	117797538	117797539	+	Frame_Shift_Ins	INS	-	-	G	rs530735519|rs148674204	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr9:117797538_117797539insG	ENST00000350763.4	-	22	6142_6143	c.5731_5732insC	c.(5731-5733)cggfs	p.R1911fs	TNC_ENST00000341037.4_Frame_Shift_Ins_p.R1729fs|TNC_ENST00000340094.3_Frame_Shift_Ins_p.R1547fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.R1456fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.R1274fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.R1638fs|TNC_ENST00000345230.3_Frame_Shift_Ins_p.R1274fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.R1548fs|TNC_ENST00000346706.3_Frame_Shift_Ins_p.R1365fs	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1911	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GACTGATGCCCGGGGGGGTCGC	0.475																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(5731-5733)ggcfs		tenascin C																																				SO:0001589	frameshift_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117797538_117797539insG		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5732dupC	9.37:g.117797545_117797545dupG	ENSP00000265131:p.Arg1911fs		Somatic				TNC_ENST00000346706.3_Frame_Shift_Ins_p.G1365fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.G1456fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000341037.4_Frame_Shift_Ins_p.G1729fs|TNC_ENST00000345230.3_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.G1548fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.G1638fs|TNC_ENST00000340094.3_Frame_Shift_Ins_p.G1547fs	p.G1911fs	NM_002160.3	NP_002151.2	WXS	Illumina GAIIx	Phase_I	P24821	TENA_HUMAN			22	6142_6143	-			1911			Fibronectin type-III 15.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Frame_Shift_Ins	INS	ENST00000350763.4	37	c.5731_5732insC	CCDS6811.1																																																																																				0.475	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		11	334						11	334	---	---	---	---
FRMD4A	55691	broad.mit.edu	37	10	13696451	13696452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr10:13696451_13696452insG	ENST00000357447.2	-	23	3382_3383	c.3014_3015insC	c.(3013-3015)ccafs	p.P1005fs	FRMD4A_ENST00000378503.1_Frame_Shift_Ins_p.P1005fs|FRMD4A_ENST00000358621.4_Frame_Shift_Ins_p.P990fs	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	1005	Ser-rich.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGGGGCTGCTTGGGGGGGTGGC	0.535																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(3013-3015)cagfs		FERM domain containing 4A																																				SO:0001589	frameshift_variant	55691					cytoplasm|cytoskeleton	binding	g.chr10:13696451_13696452insG	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.3015dupC	10.37:g.13696458_13696458dupG	ENSP00000350032:p.Pro1005fs		Somatic				FRMD4A_ENST00000358621.4_Frame_Shift_Ins_p.Q990fs|FRMD4A_ENST00000378503.1_Frame_Shift_Ins_p.Q1005fs	p.Q1005fs	NM_018027.3	NP_060497.3	WXS	Illumina GAIIx	Phase_I	Q9P2Q2	FRM4A_HUMAN			23	3382_3383	-			1005			Ser-rich.		A7E2Y3|Q5T377	Frame_Shift_Ins	INS	ENST00000357447.2	37	c.3014_3015insC	CCDS7101.1																																																																																				0.535	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		14	187						14	187	---	---	---	---
MLLT10	8028	broad.mit.edu	37	10	21962451	21962452	+	Frame_Shift_Ins	INS	-	-	G	rs573639267	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr10:21962451_21962452insG	ENST00000307729.7	+	11	1402_1403	c.1224_1225insG	c.(1225-1227)gggfs	p.G409fs	MLLT10_ENST00000377059.3_Frame_Shift_Ins_p.G409fs|MLLT10_ENST00000446906.2_Frame_Shift_Ins_p.G409fs|MLLT10_ENST00000377072.3_Frame_Shift_Ins_p.G409fs			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	409	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.V411fs*3(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGCCAGGAAGGGGGGGTAAA	0.436			T	"""MLL, PICALM, CDK6"""	AL																																	ENST00000377072.3				Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	"""MLL, PICALM, CDK6"""		AL		1	Insertion - Frameshift(1)	p.V411fs*3(1)	large_intestine(1)	NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(1222-1227)gaggggfs		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10																																				SO:0001589	frameshift_variant	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:21962451_21962452insG	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1231dupG	10.37:g.21962458_21962458dupG	ENSP00000307411:p.Gly409fs		Somatic				MLLT10_ENST00000377059.3_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000307729.7_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000446906.2_Frame_Shift_Ins_p.EG408fs	p.EG408fs	NM_004641.3	NP_004632.1	WXS	Illumina GAIIx	Phase_I	P55197	AF10_HUMAN			11	1572_1573	+			408			DNA-binding.		B1ANA8|Q5JT37|Q5VX90|Q66K63	Frame_Shift_Ins	INS	ENST00000307729.7	37	c.1224_1225insG	CCDS55708.1																																																																																				0.436	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			14	371						14	371	---	---	---	---
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1368_1369insC	c.(1369-1371)ccc>Cccc	p.P457fs	SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000411652.2_Splice_Site_p.P338fs|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000345254.4_Splice_Site_p.P457fs	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	457					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.51																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.e11-1		SEC24 family member C																																				SO:0001630	splice_region_variant	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75525559_75525560insC	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.1367-1->C	10.37:g.75525566_75525566dupC			Somatic				SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000535742.1_Intron	p.VP456_splice	NM_004922.3	NP_004913.2	WXS	Illumina GAIIx	Phase_I	P53992	SC24C_HUMAN			11	1530_1531	+	Prostate(51;0.0112)		456					B4DZT4|Q8WV25	Splice_Site	INS	ENST00000339365.2	37	c.1366_splice	CCDS7332.1																																																																																				0.510	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1		Frame_Shift_Ins	19	359						19	359	---	---	---	---
ZSWIM8	23053	broad.mit.edu	37	10	75560463	75560464	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr10:75560463_75560464insC	ENST00000605216.1	+	24	5294_5295	c.5077_5078insC	c.(5077-5079)tccfs	p.S1693fs	ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.S1511fs|ZSWIM8_ENST00000604729.1_Frame_Shift_Ins_p.S1690fs|RP11-574K11.31_ENST00000603027.1_Intron|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.S1698fs|ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.S1652fs	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1693							zinc ion binding (GO:0008270)										CTTCTCCCGCTCCCCCCCCTAC	0.604																																						ENST00000604729.1																			0											c.(5068-5070)cccfs		zinc finger, SWIM-type containing 8			,,	27,3721		0,27,1847					,,	4.9	1.0			133	23,7871		0,23,3924	no	frameshift,frameshift,frameshift	KIAA0913	NM_015037.3,NM_001242488.1,NM_001242487.1	,,	0,50,5771	A1A1,A1R,RR		0.2914,0.7204,0.4295	,,	,,		50,11592				SO:0001589	frameshift_variant	23053							g.chr10:75560463_75560464insC	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.5085dupC	10.37:g.75560471_75560471dupC	ENSP00000474748:p.Ser1693fs		Somatic				ZSWIM8_ENST00000605216.1_Frame_Shift_Ins_p.P1693fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.P1511fs|NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.P1652fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.P1698fs	p.P1690fs			WXS	Illumina GAIIx	Phase_I					24	5365_5366	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Frame_Shift_Ins	INS	ENST00000605216.1	37	c.5068_5069insC																																																																																					0.604	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		9	98						9	98	---	---	---	---
CPN1	1369	broad.mit.edu	37	10	101816832	101816833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr10:101816832_101816833insG	ENST00000370418.3	-	6	1199_1200	c.948_949insC	c.(946-951)cccgaafs	p.E317fs		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	317	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AACTCCTCTTCGGGGGGAAACT	0.47																																						ENST00000370418.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(946-951)ccaagafs		carboxypeptidase N, polypeptide 1																																				SO:0001589	frameshift_variant	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101816832_101816833insG	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.949dupC	10.37:g.101816838_101816838dupG	ENSP00000359446:p.Glu317fs		Somatic					p.R317fs	NM_001308.2	NP_001299.1	WXS	Illumina GAIIx	Phase_I	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	6	1199_1200	-		Colorectal(252;0.234)	317			Catalytic.		B1AP59	Frame_Shift_Ins	INS	ENST00000370418.3	37	c.948_949insC	CCDS7486.1																																																																																				0.470	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		11	661						11	661	---	---	---	---
SHOC2	8036	broad.mit.edu	37	10	112771513	112771514	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr10:112771513_112771514insG	ENST00000369452.4	+	9	2031_2032	c.1686_1687insG	c.(1687-1689)gggfs	p.G563fs	SHOC2_ENST00000265277.5_Frame_Shift_Ins_p.G517fs	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	563					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		AGATTGTTGCTGGGGGGCCTTC	0.465																																						ENST00000369452.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17						c.(1684-1689)gcggggfs		soc-2 suppressor of clear homolog (C. elegans)																																				SO:0001589	frameshift_variant	8036				fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity	g.chr10:112771513_112771514insG	AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.1692dupG	10.37:g.112771519_112771519dupG	ENSP00000358464:p.Gly563fs		Somatic				SHOC2_ENST00000265277.5_Frame_Shift_Ins_p.AG516fs	p.AG562fs	NM_007373.3	NP_031399.2	WXS	Illumina GAIIx	Phase_I	Q9UQ13	SHOC2_HUMAN		Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)	9	2031_2032	+			562					A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Frame_Shift_Ins	INS	ENST00000369452.4	37	c.1686_1687insG	CCDS7568.1																																																																																				0.465	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	NM_007373		7	147						7	147	---	---	---	---
TRUB1	142940	broad.mit.edu	37	10	116730191	116730192	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr10:116730191_116730192insC	ENST00000298746.3	+	5	649_650	c.588_589insC	c.(589-591)cccfs	p.P197fs	RNU6-1121P_ENST00000516802.1_RNA	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	197					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		TAATGCAAGTGCCCCCCCTGTA	0.317																																						ENST00000298746.3																			0				breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12						c.(586-591)gtccccfs		TruB pseudouridine (psi) synthase family member 1																																				SO:0001589	frameshift_variant	142940				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr10:116730191_116730192insC	AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"""TruB pseudouridine (psi) synthase homolog 1 (E. coli)"""			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.595dupC	10.37:g.116730198_116730198dupC	ENSP00000298746:p.Pro197fs		Somatic					p.VP196fs	NM_139169.4	NP_631908.1	WXS	Illumina GAIIx	Phase_I	Q8WWH5	TRUB1_HUMAN		Epithelial(162;0.00879)|all cancers(201;0.0243)	5	649_650	+		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)	196					B2R716|Q53ES2	Frame_Shift_Ins	INS	ENST00000298746.3	37	c.588_589insC	CCDS7591.1																																																																																				0.317	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1	NM_139169		10	211						10	211	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6662141	6662142	+	Frame_Shift_Ins	INS	-	-	G	rs188153920|rs143767864	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:6662141_6662142insG	ENST00000299441.3	-	2	1114_1115	c.703_704insC	c.(703-705)cggfs	p.R235fs		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	235	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R235Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCCCTCCGGGGGGGTGAA	0.589																																						ENST00000299441.3																			1	Substitution - Missense(1)	p.R235Q(1)	urinary_tract(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(703-705)gagfs		dachsous cadherin-related 1				14,4250		0,14,2118						4.7	0.9			101	0,8254		0,0,4127	no	frameshift	DCHS1	NM_003737.2		0,14,6245	A1A1,A1R,RR		0.0,0.3283,0.1118				14,12504				SO:0001589	frameshift_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6662141_6662142insG	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.704dupC	11.37:g.6662148_6662148dupG	ENSP00000299441:p.Arg235fs		Somatic					p.E235fs	NM_003737.2	NP_003728.1	WXS	Illumina GAIIx	Phase_I	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1114_1115	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	235			Cadherin 2.		O15098	Frame_Shift_Ins	INS	ENST00000299441.3	37	c.703_704insC	CCDS7771.1																																																																																				0.589	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		15	157						15	157	---	---	---	---
EIF4G2	1982	broad.mit.edu	37	11	10820934	10820935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:10820934_10820935insG	ENST00000526148.1	-	20	2871_2872	c.2361_2362insC	c.(2359-2364)cccagcfs	p.S788fs	SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000339995.5_Frame_Shift_Ins_p.S788fs|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Frame_Shift_Ins_p.S750fs|EIF4G2_ENST00000525681.1_Frame_Shift_Ins_p.S788fs	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2									p.S788R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTTTCATCGCTGGGGGGGTTTA	0.406																																						ENST00000526148.1																			1	Substitution - Missense(1)	p.S788R(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43						c.(2359-2364)ccgcgafs		eukaryotic translation initiation factor 4 gamma, 2																																				SO:0001589	frameshift_variant	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10820934_10820935insG	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.2362dupC	11.37:g.10820941_10820941dupG	ENSP00000433664:p.Ser788fs		Somatic				EIF4G2_ENST00000396525.2_Frame_Shift_Ins_p.R750fs|EIF4G2_ENST00000339995.5_Frame_Shift_Ins_p.R788fs|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000525681.1_Frame_Shift_Ins_p.R788fs	p.R788fs	NM_001172705.1	NP_001166176.1	WXS	Illumina GAIIx	Phase_I	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	20	2871_2872	-			788			W2.			Frame_Shift_Ins	INS	ENST00000526148.1	37	c.2361_2362insC	CCDS31428.1																																																																																				0.406	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		7	164						7	164	---	---	---	---
PAX6	5080	broad.mit.edu	37	11	31812316	31812317	+	Frame_Shift_Ins	INS	-	-	G	rs200015827		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:31812316_31812317insG	ENST00000379132.3	-	11	1404_1405	c.1124_1125insC	c.(1123-1125)ccafs	p.P375fs	PAX6_ENST00000379123.5_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000419022.1_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379107.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000241001.8_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379129.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379115.4_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379111.2_Frame_Shift_Ins_p.P375fs			P26367	PAX6_HUMAN	paired box 6	375	Pro/Ser/Thr-rich.		P -> Q (in AN; reduced DNA binding ability; dbSNP:rs200015827). {ECO:0000269|PubMed:11309364}.		astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCTGCATATGTGGGGGGGTGTA	0.589									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																													ENST00000419022.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	GRCh37	CM011452	PAX6	M		c.(1165-1167)ccafs		paired box 6																																				SO:0001589	frameshift_variant	5080	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation	Familial Cancer Database	WAGR syndrome	blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	g.chr11:31812316_31812317insG	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.1125dupC	11.37:g.31812323_31812323dupG	ENSP00000368427:p.Pro375fs		Somatic				PAX6_ENST00000241001.8_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379129.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379107.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379115.4_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379111.2_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379132.3_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379123.5_Frame_Shift_Ins_p.P375fs	p.P389fs	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	WXS	Illumina GAIIx	Phase_I	P26367	PAX6_HUMAN			13	1634_1635	-	Lung SC(675;0.225)		375			Pro/Ser/Thr-rich.		Q6N006|Q99413	Frame_Shift_Ins	INS	ENST00000379132.3	37	c.1166_1167insC	CCDS31451.1																																																																																				0.589	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604		9	110						9	110	---	---	---	---
NAT10	55226	broad.mit.edu	37	11	34163264	34163268	+	Splice_Site	DEL	AGCTA	AGCTA	-			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:34163264_34163268delAGCTA	ENST00000257829.3	+	26	2918_2921	c.2712_2715delAGCTA	c.(2710-2715)aaagct>aa	p.KA904fs	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Splice_Site_p.KA832fs	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	904	Required for localization to the nucleolus and midbody.					membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TGTCTTTTGTAGCTATTTAATGAAG	0.488																																						ENST00000257829.3																			0				endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.e26-1		N-acetyltransferase 10 (GCN5-related)																																				SO:0001630	splice_region_variant	55226					nucleolus	ATP binding|N-acetyltransferase activity|protein binding	g.chr11:34163264_34163268delAGCTA	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.2713-1AGCTA>-	11.37:g.34163264_34163268delAGCTA			Somatic				NAT10_ENST00000531159.2_Splice_Site_p.832_splice|NAT10_ENST00000527971.1_Intron	p.904_splice	NM_024662.2	NP_078938.2	WXS	Illumina GAIIx	Phase_I	Q9H0A0	NAT10_HUMAN			26	2918_2921	+		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)	904			Required for localization to the nucleolus and midbody.		B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Splice_Site	DEL	ENST00000257829.3	37	c.2712_splice	CCDS7889.1																																																																																				0.488	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662	Frame_Shift_Del	17	207						17	207	---	---	---	---
APIP	51074	broad.mit.edu	37	11	34904908	34904909	+	Frame_Shift_Ins	INS	-	-	C	rs564123868		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:34904908_34904909insC	ENST00000395787.3	-	6	818_819	c.604_605insG	c.(604-606)gaafs	p.E202fs	APIP_ENST00000527830.1_5'UTR|APIP_ENST00000278359.5_Frame_Shift_Ins_p.E219fs	NM_015957.2	NP_057041.2			APAF1 interacting protein											kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			CTCCCATGTTTCCCCCCACACA	0.45																																						ENST00000395787.3																			0				kidney(2)|lung(1)|skin(1)	4						c.(604-606)aacfs		APAF1 interacting protein																																				SO:0001589	frameshift_variant	51074				apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity	g.chr11:34904908_34904909insC	AF132963	CCDS7895.1	11p13	2014-05-12				ENSG00000149089	4.2.1.109		17581	protein-coding gene	gene with protein product	"""methylthioribulose-1-phosphate dehydratase"""	612491				10810093, 15262985, 24367089	Standard	NM_015957		Approved	CGI-29, Mmrp19, APIP2	uc001mvs.2	Q96GX9		ENST00000395787.3:c.605dupG	11.37:g.34904914_34904914dupC	ENSP00000379133:p.Glu202fs		Somatic				APIP_ENST00000278359.5_Frame_Shift_Ins_p.N219fs|APIP_ENST00000527830.1_5'UTR	p.N202fs	NM_015957.2	NP_057041.2	WXS	Illumina GAIIx	Phase_I	Q96GX9	MTNB_HUMAN	STAD - Stomach adenocarcinoma(6;0.000425)		6	818_819	-	all_epithelial(35;0.161)	all_hematologic(20;0.107)	202						Frame_Shift_Ins	INS	ENST00000395787.3	37	c.604_605insG	CCDS7895.1																																																																																				0.450	APIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389864.1	NM_015957		11	404						11	404	---	---	---	---
CKAP5	9793	broad.mit.edu	37	11	46784654	46784655	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:46784654_46784655insA	ENST00000529230.1	-	30	3808_3809	c.3762_3763insT	c.(3760-3765)tttgacfs	p.D1255fs	CKAP5_ENST00000354558.3_Frame_Shift_Ins_p.D1255fs|SNORD67_ENST00000390833.1_RNA|CKAP5_ENST00000312055.5_Frame_Shift_Ins_p.D1255fs|CKAP5_ENST00000415402.1_Frame_Shift_Ins_p.D1255fs			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1255					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GTATTGGTGTCAAAAAACCTCA	0.361																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(3760-3765)ttacacfs		cytoskeleton associated protein 5																																				SO:0001589	frameshift_variant	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46784654_46784655insA		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.3763dupT	11.37:g.46784660_46784660dupA	ENSP00000432768:p.Asp1255fs		Somatic				CKAP5_ENST00000415402.1_Frame_Shift_Ins_p.LH1254fs|CKAP5_ENST00000312055.5_Frame_Shift_Ins_p.LH1254fs|CKAP5_ENST00000354558.3_Frame_Shift_Ins_p.LH1254fs	p.LH1254fs			WXS	Illumina GAIIx	Phase_I	Q14008	CKAP5_HUMAN			30	3808_3809	-			1254					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Frame_Shift_Ins	INS	ENST00000529230.1	37	c.3762_3763insT	CCDS31477.1																																																																																				0.361	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		9	463						9	463	---	---	---	---
TMX2	51075	broad.mit.edu	37	11	57505845	57505846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:57505845_57505846insC	ENST00000278422.4	+	4	396_397	c.384_385insC	c.(385-387)cccfs	p.P129fs	TMX2-CTNND1_ENST00000528395.1_Intron|C11orf31_ENST00000534355.1_5'Flank|TMX2_ENST00000378312.4_Frame_Shift_Ins_p.P91fs	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	129	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TGACGTGCAAACCCCCCCTATA	0.421																																						ENST00000278422.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						c.(382-387)aaccccfs		thioredoxin-related transmembrane protein 2																																				SO:0001589	frameshift_variant	51075				cell redox homeostasis	integral to membrane		g.chr11:57505845_57505846insC	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"""Protein disulfide isomerases"""	30739	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 12"""		"""thioredoxin domain containing 14"""	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.391dupC	11.37:g.57505852_57505852dupC	ENSP00000278422:p.Pro129fs		Somatic				TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs	p.NP128fs	NM_015959.3	NP_057043.1	WXS	Illumina GAIIx	Phase_I	Q9Y320	TMX2_HUMAN			4	396_397	+			128			Thioredoxin.		B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Frame_Shift_Ins	INS	ENST00000278422.4	37	c.384_385insC	CCDS7967.1																																																																																				0.421	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		16	477						16	477	---	---	---	---
PATL1	219988	broad.mit.edu	37	11	59425145	59425146	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:59425145_59425146insG	ENST00000300146.9	-	5	562_563	c.478_479insC	c.(478-480)cagfs	p.Q160fs		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	160	Involved in nuclear foci localization.|Pro-rich.|Region N; interaction with decapping machinery.			Q -> H (in Ref. 2; BAG54601). {ECO:0000305}.	cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TTCTGGACCCTGGGGGGGCCTC	0.455																																						ENST00000300146.9																			0				central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						c.(478-480)gggfs		protein associated with topoisomerase II homolog 1 (yeast)																																				SO:0001589	frameshift_variant	219988				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding	g.chr11:59425145_59425146insG	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.479dupC	11.37:g.59425152_59425152dupG	ENSP00000300146:p.Gln160fs		Somatic					p.G160fs	NM_152716.2	NP_689929.2	WXS	Illumina GAIIx	Phase_I	Q86TB9	PATL1_HUMAN			5	562_563	-			160	Q -> H (in Ref. 2; BAG54601).		Pro-rich.|Region N; interaction with decapping machinery.		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Frame_Shift_Ins	INS	ENST00000300146.9	37	c.478_479insC	CCDS44613.1																																																																																				0.455	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716		9	185						9	185	---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61093159	61093160	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:61093159_61093160insC	ENST00000301764.7	-	6	1082_1083	c.685_686insG	c.(685-687)gccfs	p.A229fs	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	229	Interaction with CDT1.|WD repeat beta-propeller A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						AATGATGATGGCCCCCCCAAAG	0.49								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(685-687)catfs	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa																																				SO:0001589	frameshift_variant	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61093159_61093160insC	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.686dupG	11.37:g.61093166_61093166dupC	ENSP00000301764:p.Ala229fs		Somatic				DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	p.H229fs	NM_001923.4	NP_001914.3	WXS	Illumina GAIIx	Phase_I	Q16531	DDB1_HUMAN			6	1082_1083	-			229			Interaction with CDT1.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Frame_Shift_Ins	INS	ENST00000301764.7	37	c.685_686insG	CCDS31576.1																																																																																				0.490	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		8	91						8	91	---	---	---	---
TBC1D10C	374403	broad.mit.edu	37	11	67176564	67176565	+	Frame_Shift_Ins	INS	-	-	C	rs147560025		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:67176564_67176565insC	ENST00000542590.1	+	8	967_968	c.953_954insC	c.(952-957)atccccfs	p.IP318fs	TBC1D10C_ENST00000312390.5_Frame_Shift_Ins_p.IP318fs|TBC1D10C_ENST00000526387.1_Frame_Shift_Ins_p.P254fs			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	318					retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)	p.A321fs*100(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CTTCGAGCCATCCCCCCCGCGC	0.683																																						ENST00000312390.5																			2	Deletion - Frameshift(2)	p.A321fs*100(2)	large_intestine(2)	cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16						c.(952-954)accfs		TBC1 domain family, member 10C																																				SO:0001589	frameshift_variant	374403					intracellular	Rab GTPase activator activity	g.chr11:67176564_67176565insC	BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.960dupC	11.37:g.67176571_67176571dupC	ENSP00000443654:p.Ile318fs		Somatic				TBC1D10C_ENST00000542590.1_Frame_Shift_Ins_p.T318fs|TBC1D10C_ENST00000526387.1_Frame_Shift_Ins_p.HP253fs	p.T318fs	NM_198517.3	NP_940919.1	WXS	Illumina GAIIx	Phase_I	Q8IV04	TB10C_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		9	982_983	+			318					G3V1D6	Frame_Shift_Ins	INS	ENST00000542590.1	37	c.953_954insC	CCDS8162.1																																																																																				0.683	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517		2	4						2	4	---	---	---	---
RSF1	51773	broad.mit.edu	37	11	77412023	77412024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:77412023_77412024insG	ENST00000308488.6	-	6	2552_2553	c.2250_2251insC	c.(2248-2253)cccaaafs	p.K751fs	RSF1_ENST00000480887.1_Frame_Shift_Ins_p.K499fs|RSF1_ENST00000360355.2_Frame_Shift_Ins_p.K720fs			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	751					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TCTAGAACTTTGGGGGGAGAAT	0.411																																						ENST00000308488.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(2248-2253)ccaagtfs		remodeling and spacing factor 1																																				SO:0001589	frameshift_variant	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77412023_77412024insG	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.2251dupC	11.37:g.77412029_77412029dupG	ENSP00000311513:p.Lys751fs		Somatic				RSF1_ENST00000480887.1_Frame_Shift_Ins_p.S499fs|RSF1_ENST00000360355.2_Frame_Shift_Ins_p.S720fs	p.S751fs			WXS	Illumina GAIIx	Phase_I	Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		6	2552_2553	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		751					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Frame_Shift_Ins	INS	ENST00000308488.6	37	c.2250_2251insC	CCDS8253.1																																																																																				0.411	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		11	322						11	322	---	---	---	---
KCTD21	283219	broad.mit.edu	37	11	77885567	77885568	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:77885567_77885568insC	ENST00000340067.3	-	2	311_312	c.33_34insG	c.(31-36)gggaagfs	p.K12fs	KCTD21-AS1_ENST00000600795.1_RNA|KCTD21-AS1_ENST00000530261.1_RNA|KCTD21-AS1_ENST00000528468.1_RNA|KCTD21-AS1_ENST00000523626.2_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	12	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)					breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			GTATAGAGCTTCCCCCCGACGT	0.574																																						ENST00000340067.3																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11						c.(31-36)ggagctfs		potassium channel tetramerization domain containing 21																																				SO:0001589	frameshift_variant	283219					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:77885567_77885568insC	AK095233	CCDS31645.1	11q14.1	2013-06-20	2013-06-20			ENSG00000188997			27452	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 21"""			21472142	Standard	XM_005273925		Approved	KCASH2	uc001ozb.3	Q4G0X4		ENST00000340067.3:c.34dupG	11.37:g.77885573_77885573dupC	ENSP00000339340:p.Lys12fs		Somatic				KCTD21-AS1_ENST00000600795.1_RNA	p.A12fs	NM_001029859.1	NP_001025030.1	WXS	Illumina GAIIx	Phase_I	Q4G0X4	KCD21_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)		2	311_312	-	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		12			BTB.		B4DTR0	Frame_Shift_Ins	INS	ENST00000340067.3	37	c.33_34insG	CCDS31645.1																																																																																				0.574	KCTD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390057.1	NM_001029859		8	116						8	116	---	---	---	---
SYTL2	54843	broad.mit.edu	37	11	85435355	85435356	+	Intron	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:85435355_85435356insG	ENST00000528231.1	-	8	1737				SYTL2_ENST00000525423.1_Frame_Shift_Ins_p.P715fs|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000354566.3_Frame_Shift_Ins_p.P715fs|SYTL2_ENST00000359152.5_Frame_Shift_Ins_p.P1239fs	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CCCTGTCCTCTGGGGGGGTTAC	0.48																																						ENST00000359152.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(3715-3717)cgafs		synaptotagmin-like 2																																				SO:0001627	intron_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85435355_85435356insG	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1460-3353->C	11.37:g.85435362_85435362dupG			Somatic				SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000354566.3_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000525423.1_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000524452.1_Intron	p.R1239fs	NM_206928.2	NP_996811.1	WXS	Illumina GAIIx	Phase_I	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	1	3715_3716	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	400					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Frame_Shift_Ins	INS	ENST00000528231.1	37	c.3716_3717insC	CCDS53688.1																																																																																				0.480	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		7	179						7	179	---	---	---	---
RDX	5962	broad.mit.edu	37	11	110104136	110104137	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:110104136_110104137insG	ENST00000343115.4	-	13	1731_1732	c.1412_1413insC	c.(1411-1413)cctfs	p.P471fs	RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs|RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs|RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	471	Glu-rich.|Poly-Pro.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GTGGAGGTGGAGGGGGGGCAGA	0.431																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	ENST00000343115.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18						c.(1411-1413)cccfs		radixin																																				SO:0001589	frameshift_variant	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110104136_110104137insG	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.1413dupC	11.37:g.110104143_110104143dupG	ENSP00000342830:p.Pro471fs		Somatic				RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs|RDX_ENST00000530301.1_Intron|RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs	p.P471fs	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	WXS	Illumina GAIIx	Phase_I	P35241	RADI_HUMAN		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)	13	1731_1732	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	471			Glu-rich.|Poly-Pro.		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Frame_Shift_Ins	INS	ENST00000343115.4	37	c.1412_1413insC	CCDS8343.1																																																																																				0.431	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		10	319						10	319	---	---	---	---
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G	rs576548045		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:113076860_113076861insG	ENST00000533760.1	+	5	831_832	c.232_233insG	c.(232-234)cggfs	p.R78fs	NCAM1_ENST00000316851.7_Frame_Shift_Ins_p.R186fs|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.R195fs	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATCCTGGCACGGGGGGAGATC	0.495																																						ENST00000316851.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(556-558)gggfs		neural cell adhesion molecule 1																																				SO:0001589	frameshift_variant	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113076860_113076861insG		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.238dupG	11.37:g.113076866_113076866dupG	ENSP00000473281:p.Arg78fs		Somatic				NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs|NCAM1_ENST00000397957.4_3'UTR	p.G186fs	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	WXS	Illumina GAIIx	Phase_I	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	4	556_557	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	196			Ig-like C2-type 2.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Frame_Shift_Ins	INS	ENST00000533760.1	37	c.556_557insG																																																																																					0.495	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		16	787						16	787	---	---	---	---
CCDC153	283152	broad.mit.edu	37	11	119061042	119061043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:119061042_119061043insG	ENST00000503566.2	-	6	598_599	c.599_600insC	c.(598-600)cctfs	p.P200fs	CCDC153_ENST00000415318.1_Frame_Shift_Ins_p.P200fs			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	200										lung(3)|stomach(1)	4						TCAAAGATCCAGGGGGGGTGAG	0.569																																						ENST00000503566.2																			0				lung(3)|stomach(1)	4						c.(598-600)cggfs		coiled-coil domain containing 153				6,4256		0,6,2125						3.6	1.0			88	8,8244		0,8,4118	no	frameshift	CCDC153	NM_001145018.1		0,14,6243	A1A1,A1R,RR		0.0969,0.1408,0.1119				14,12500				SO:0001589	frameshift_variant	283152							g.chr11:119061042_119061043insG		CCDS44753.1	11q23.3	2011-07-22			ENSG00000248712	ENSG00000248712			27446	protein-coding gene	gene with protein product						12477932	Standard	NM_001145018		Approved	LOC283152	uc010rze.2	Q494R4	OTTHUMG00000156903	ENST00000503566.2:c.600dupC	11.37:g.119061049_119061049dupG	ENSP00000423567:p.Pro200fs		Somatic				CCDC153_ENST00000415318.1_Frame_Shift_Ins_p.R200fs	p.R200fs			WXS	Illumina GAIIx	Phase_I	Q494R4	CC153_HUMAN			6	598_599	-			200						Frame_Shift_Ins	INS	ENST00000503566.2	37	c.599_600insC	CCDS44753.1																																																																																				0.569	CCDC153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388331.2	NM_001033658		9	233						9	233	---	---	---	---
ROBO4	54538	broad.mit.edu	37	11	124756678	124756679	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:124756678_124756679insG	ENST00000306534.3	-	16	2960_2961	c.2475_2476insC	c.(2473-2478)cccaccfs	p.T826fs	ROBO4_ENST00000533054.1_Frame_Shift_Ins_p.T681fs|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	826					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CCATAGGTGGTGGGGGGTGAAG	0.599																																						ENST00000306534.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76						c.(2473-2478)ccccacfs		roundabout, axon guidance receptor, homolog 4 (Drosophila)																																				SO:0001589	frameshift_variant	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124756678_124756679insG	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.2476dupC	11.37:g.124756684_124756684dupG	ENSP00000304945:p.Thr826fs		Somatic				ROBO4_ENST00000533054.1_Frame_Shift_Ins_p.H681fs|RP11-664I21.5_ENST00000524453.1_RNA	p.H826fs	NM_019055.5	NP_061928.4	WXS	Illumina GAIIx	Phase_I	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	16	2960_2961	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	826					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Frame_Shift_Ins	INS	ENST00000306534.3	37	c.2475_2476insC	CCDS8455.1																																																																																				0.599	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		7	223						7	223	---	---	---	---
ADAMTS8	11095	broad.mit.edu	37	11	130275723	130275724	+	Frame_Shift_Ins	INS	-	-	G	rs373860109		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:130275723_130275724insG	ENST00000257359.6	-	9	3105_3106	c.2399_2400insC	c.(2398-2400)ccafs	p.P800fs		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	800	Spacer.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ATTTGACTTTTGGGGGGAAGAC	0.579																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(2398-2400)caafs		ADAM metallopeptidase with thrombospondin type 1 motif, 8																																				SO:0001589	frameshift_variant	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130275723_130275724insG	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.2400dupC	11.37:g.130275729_130275729dupG	ENSP00000257359:p.Pro800fs		Somatic					p.Q800fs	NM_007037.4	NP_008968.4	WXS	Illumina GAIIx	Phase_I	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	9	3105_3106	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	800			Spacer.		Q9NZS0	Frame_Shift_Ins	INS	ENST00000257359.6	37	c.2399_2400insC	CCDS41732.1																																																																																				0.579	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		16	1001						16	1001	---	---	---	---
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-495)caggggfs	p.QG164fs	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.QG109fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	164	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	AAAAACATACAGGGGGGGAAGA	0.564																																						ENST00000011653.4																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(490-492)cggfs		CD4 molecule																																				SO:0001589	frameshift_variant	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6924042_6924043insG	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.498dupG	12.37:g.6924049_6924049dupG	ENSP00000011653:p.Gln164fs		Somatic				CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs|CD4_ENST00000538827.1_3'UTR	p.R164fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	WXS	Illumina GAIIx	Phase_I	P01730	CD4_HUMAN			5	749_750	+		Myeloproliferative disorder(1001;0.0122)	164			Ig-like C2-type 1.		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Frame_Shift_Ins	INS	ENST00000011653.4	37	c.491_492insG	CCDS8562.1																																																																																				0.564	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		18	318						18	318	---	---	---	---
GNB3	2784	broad.mit.edu	37	12	6952601	6952602	+	Frame_Shift_Ins	INS	-	-	G	rs201963490		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:6952601_6952602insG	ENST00000229264.3	+	7	747_748	c.342_343insG	c.(343-345)gggfs	p.G115fs	GNB3_ENST00000435982.2_Frame_Shift_Ins_p.G115fs|CDCA3_ENST00000604599.1_5'Flank	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	115					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)	p.G115W(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						TTGTGGCATGTGGGGGGCTGGA	0.584																																						ENST00000229264.3																			1	Substitution - Missense(1)	p.G115W(1)	lung(1)	cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						c.(340-345)tgggggfs		guanine nucleotide binding protein (G protein), beta polypeptide 3																																				SO:0001589	frameshift_variant	2784				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6952601_6952602insG		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.348dupG	12.37:g.6952607_6952607dupG	ENSP00000229264:p.Gly115fs		Somatic				GNB3_ENST00000435982.2_Frame_Shift_Ins_p.WG114fs	p.WG114fs	NM_002075.2	NP_002066.1	WXS	Illumina GAIIx	Phase_I	P16520	GBB3_HUMAN			7	747_748	+			114					Q96B71|Q9BQC0	Frame_Shift_Ins	INS	ENST00000229264.3	37	c.342_343insG	CCDS8564.1																																																																																				0.584	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		7	157						7	157	---	---	---	---
C1S	716	broad.mit.edu	37	12	7177938	7177939	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:7177938_7177939insC	ENST00000406697.1	+	15	2678_2679	c.2050_2051insC	c.(2050-2052)accfs	p.T684fs	C1S_ENST00000328916.3_Frame_Shift_Ins_p.T684fs|C1S_ENST00000402681.3_Frame_Shift_Ins_p.T517fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.T684fs			P09871	C1S_HUMAN	complement component 1, s subcomponent	684					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGAAAATAGCACCCCCCGTGAG	0.49																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(2050-2052)cccfs		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)																																			SO:0001589	frameshift_variant	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7177938_7177939insC		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.2056dupC	12.37:g.7177944_7177944dupC	ENSP00000385035:p.Thr684fs		Somatic				C1S_ENST00000328916.3_Frame_Shift_Ins_p.P684fs|C1S_ENST00000402681.3_Frame_Shift_Ins_p.P517fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.P684fs	p.P684fs			WXS	Illumina GAIIx	Phase_I	P09871	C1S_HUMAN			15	2678_2679	+			684					D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Frame_Shift_Ins	INS	ENST00000406697.1	37	c.2050_2051insC	CCDS31735.1																																																																																				0.490	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		8	471						8	471	---	---	---	---
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:13142224_13142225insC	ENST00000014930.4	-	2	361_362	c.203_204insG	c.(202-204)ggcfs	p.G68fs	HEBP1_ENST00000536942.1_Frame_Shift_Ins_p.G68fs	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554																																						ENST00000536942.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7						c.(202-204)gacfs		heme binding protein 1																																				SO:0001589	frameshift_variant	50865				circadian rhythm	extracellular region		g.chr12:13142224_13142225insC	AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"""Endogenous ligands"""	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771	ENST00000014930.4:c.204dupG	12.37:g.13142230_13142230dupC	ENSP00000014930:p.Gly68fs		Somatic				HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs	p.D68fs			WXS	Illumina GAIIx	Phase_I	Q9NRV9	HEBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.153)	2	353_354	-		Prostate(47;0.183)	68					A8K1G2|Q9Y5Z5	Frame_Shift_Ins	INS	ENST00000014930.4	37	c.203_204insG	CCDS31749.1																																																																																				0.554	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1			8	668						8	668	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206|rs398122823		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:14019043_14019044insG	ENST00000609686.1	-	2	308_309	c.99_100insC	c.(97-102)cccagcfs	p.S34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATGCCAATGCTGGGGGGGCTCT	0.589																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(97-102)ccgcatfs		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)																																			SO:0001589	frameshift_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:14019043_14019044insG		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.100dupC	12.37:g.14019050_14019050dupG	ENSP00000477455:p.Ser34fs		Somatic					p.H34fs	NM_000834.3	NP_000825.2	WXS	Illumina GAIIx	Phase_I	Q13224	NMDE2_HUMAN			2	308_309	-			34					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Frame_Shift_Ins	INS	ENST00000609686.1	37	c.99_100insC	CCDS8662.1																																																																																				0.589	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			7	120						7	120	---	---	---	---
WBP11	51729	broad.mit.edu	37	12	14940365	14940366	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:14940365_14940366insG	ENST00000261167.2	-	12	1792_1793	c.1559_1560insC	c.(1558-1560)cctfs	p.P520fs		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	520	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)	p.G521fs*28(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GGAACAGCCCAGGGGGGGCAGG	0.55																																						ENST00000261167.2																			1	Insertion - Frameshift(1)	p.G521fs*28(1)	large_intestine(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						c.(1558-1560)cggfs		WW domain binding protein 11																																				SO:0001589	frameshift_variant	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14940365_14940366insG	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.1560dupC	12.37:g.14940372_14940372dupG	ENSP00000261167:p.Pro520fs		Somatic				WBP11_ENST00000537574.1_Frame_Shift_Ins_p.R486fs	p.R520fs	NM_016312.2	NP_057396.1	WXS	Illumina GAIIx	Phase_I	Q9Y2W2	WBP11_HUMAN			12	1792_1793	-			520			Pro-rich.		Q96AY8	Frame_Shift_Ins	INS	ENST00000261167.2	37	c.1559_1560insC	CCDS8666.1																																																																																				0.550	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		21	239						21	239	---	---	---	---
PCBP2	5094	broad.mit.edu	37	12	53856277	53856278	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:53856277_53856278insC	ENST00000439930.3	+	7	539_540	c.517_518insC	c.(517-519)tccfs	p.S173fs	PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000552296.2_Splice_Site_p.S169fs|PCBP2_ENST00000437231.1_Splice_Site_p.S169fs|PCBP2_ENST00000541275.1_Splice_Site_p.S169fs|PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000359282.5_Splice_Site_p.S169fs|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000546463.1_Splice_Site_p.S169fs|PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000603815.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000455667.3_Splice_Site_p.S169fs|RP11-793H13.8_ENST00000547717.1_RNA			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	173					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TCTCTCCCAGTCCCCCCCGAAG	0.5																																						ENST00000603815.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(517-519)cccfs		poly(rC) binding protein 2																																				SO:0001589	frameshift_variant	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53856277_53856278insC	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.524dupC	12.37:g.53856284_53856284dupC	ENSP00000408949:p.Ser173fs		Somatic				PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000439930.3_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000455667.3_Splice_Site_p.P169_splice|PCBP2_ENST00000552296.2_Splice_Site_p.P169_splice|PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000546463.1_Splice_Site_p.P169_splice|PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.P173fs|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000359282.5_Splice_Site_p.P169_splice|PCBP2_ENST00000541275.1_Splice_Site_p.P169_splice|PCBP2_ENST00000437231.1_Splice_Site_p.P169_splice	p.P173fs	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	WXS	Illumina GAIIx	Phase_I	Q15366	PCBP2_HUMAN			8	867_868	+			173					A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Frame_Shift_Ins	INS	ENST00000439930.3	37	c.517_518insC	CCDS44901.1																																																																																				0.500	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		10	198						10	198	---	---	---	---
PDE1B	5153	broad.mit.edu	37	12	54971059	54971060	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:54971059_54971060insC	ENST00000243052.3	+	15	1994_1995	c.1558_1559insC	c.(1558-1560)gccfs	p.A520fs	PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Frame_Shift_Ins_p.A479fs|PDE1B_ENST00000550620.1_Frame_Shift_Ins_p.A500fs	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	520					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TGAAGAAGAGGCCCCCCCATCC	0.559																																						ENST00000243052.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						c.(1558-1560)cccfs		phosphodiesterase 1B, calmodulin-dependent																																				SO:0001589	frameshift_variant	5153				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54971059_54971060insC	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.1565dupC	12.37:g.54971066_54971066dupC	ENSP00000243052:p.Ala520fs		Somatic				PDE1B_ENST00000550620.1_Frame_Shift_Ins_p.P500fs|PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Frame_Shift_Ins_p.P479fs	p.P520fs	NM_000924.3	NP_000915.1	WXS	Illumina GAIIx	Phase_I	Q01064	PDE1B_HUMAN			15	1994_1995	+			520					Q92825|Q96KP3	Frame_Shift_Ins	INS	ENST00000243052.3	37	c.1558_1559insC	CCDS8882.1																																																																																				0.559	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			27	422						27	422	---	---	---	---
NEUROD4	58158	broad.mit.edu	37	12	55421127	55421128	+	Frame_Shift_Ins	INS	-	-	C	rs201995432		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:55421127_55421128insC	ENST00000242994.3	+	2	1282_1283	c.904_905insC	c.(904-906)accfs	p.T302fs		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	302					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCAGGCTGGTACCCCCCGTTAT	0.465																																						ENST00000242994.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(904-906)cccfs		neuronal differentiation 4																																				SO:0001589	frameshift_variant	58158				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:55421127_55421128insC	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.910dupC	12.37:g.55421133_55421133dupC	ENSP00000242994:p.Thr302fs		Somatic					p.P302fs	NM_021191.2	NP_067014.2	WXS	Illumina GAIIx	Phase_I	Q9HD90	NDF4_HUMAN			2	1282_1283	+			302					B2RAC9	Frame_Shift_Ins	INS	ENST00000242994.3	37	c.904_905insC	CCDS8886.1																																																																																				0.465	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1			15	1920						15	1920	---	---	---	---
DGKA	1606	broad.mit.edu	37	12	56347513	56347514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:56347513_56347514insC	ENST00000331886.5	+	24	2623_2624	c.2169_2170insC	c.(2170-2172)cccfs	p.P724fs	DGKA_ENST00000551156.1_Frame_Shift_Ins_p.P724fs|DGKA_ENST00000394147.1_Frame_Shift_Ins_p.P724fs|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	724					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)	TCATGGGCCCACCCCCCCGCTC	0.579																																						ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.(2167-2172)ccccccfs		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)																																			SO:0001589	frameshift_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.chr12:56347513_56347514insC	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.2176dupC	12.37:g.56347520_56347520dupC	ENSP00000328405:p.Pro724fs		Somatic				DGKA_ENST00000394147.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Frame_Shift_Ins_p.PP723fs	p.PP723fs	NM_001345.4	NP_001336.2	WXS	Illumina GAIIx	Phase_I	P23743	DGKA_HUMAN			24	2623_2624	+			723					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Frame_Shift_Ins	INS	ENST00000331886.5	37	c.2169_2170insC	CCDS8896.1																																																																																				0.579	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			9	213						9	213	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56559112	56559113	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:56559112_56559113insG	ENST00000267064.4	-	26	3214_3215	c.3128_3129insC	c.(3127-3129)cctfs	p.P1043fs	SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.P1074fs|SMARCC2_ENST00000394023.3_Frame_Shift_Ins_p.P1074fs|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.P1074fs|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1043	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CATGGGGTCCAGGGGGGGGAAC	0.574																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(3220-3222)cggfs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2																																				SO:0001589	frameshift_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56559112_56559113insG	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3129dupC	12.37:g.56559120_56559120dupG	ENSP00000267064:p.Pro1043fs		Somatic				SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.R1074fs|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.R1043fs|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.R1074fs|RP11-977G19.5_ENST00000553176.1_RNA	p.R1074fs	NM_001130420.1	NP_001123892.1	WXS	Illumina GAIIx	Phase_I	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		27	3326_3327	-			1043			Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Frame_Shift_Ins	INS	ENST00000267064.4	37	c.3221_3222insC	CCDS8907.1																																																																																				0.574	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			14	220						14	220	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57572241	57572242	+	Frame_Shift_Ins	INS	-	-	G	rs139915490		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:57572241_57572242insG	ENST00000243077.3	+	27	4927_4928	c.4461_4462insG	c.(4462-4464)gggfs	p.G1488fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1488					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACGCTGTACGGGGGGGAGGT	0.589																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(4459-4464)taggggfs		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57572241_57572242insG	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4468dupG	12.37:g.57572248_57572248dupG	ENSP00000243077:p.Gly1488fs		Somatic					p.*G1487fs	NM_002332.2	NP_002323.2	WXS	Illumina GAIIx	Phase_I	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	27	4927_4928	+			1487					Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Ins	INS	ENST00000243077.3	37	c.4461_4462insG	CCDS8932.1																																																																																				0.589	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		10	165						10	165	---	---	---	---
DCTN2	10540	broad.mit.edu	37	12	57927805	57927806	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:57927805_57927806insG	ENST00000548249.1	-	7	866_867	c.599_600insC	c.(598-600)ccafs	p.P200fs	DCTN2_ENST00000551400.1_5'Flank|DCTN2_ENST00000537439.1_Frame_Shift_Ins_p.P177fs|DCTN2_ENST00000543672.1_Frame_Shift_Ins_p.P205fs|DCTN2_ENST00000434715.3_Frame_Shift_Ins_p.P205fs	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	200					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|vesicle (GO:0031982)	motor activity (GO:0003774)|spectrin binding (GO:0030507)			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						GGCTGCTATCTGGGGGGGTCCC	0.5																																						ENST00000548249.1																			0				endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						c.(598-600)cgafs		dynactin 2 (p50)																																				SO:0001589	frameshift_variant	10540				cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding	g.chr12:57927805_57927806insG	U50733	CCDS44930.1, CCDS58245.1, CCDS73489.1	12q13.3	2008-05-14				ENSG00000175203			2712	protein-coding gene	gene with protein product		607376				8647893	Standard	NM_001261412		Approved	RBP50, DCTN-50	uc001som.2	Q13561	OTTHUMG00000170124	ENST00000548249.1:c.600dupC	12.37:g.57927812_57927812dupG	ENSP00000447824:p.Pro200fs		Somatic				DCTN2_ENST00000537439.1_Frame_Shift_Ins_p.R177fs|DCTN2_ENST00000434715.3_Frame_Shift_Ins_p.R205fs|DCTN2_ENST00000543672.1_Frame_Shift_Ins_p.R205fs	p.R200fs	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	WXS	Illumina GAIIx	Phase_I	Q13561	DCTN2_HUMAN			7	866_867	-			200					B2RBK5|Q86YN2|Q9BW17	Frame_Shift_Ins	INS	ENST00000548249.1	37	c.599_600insC	CCDS58245.1																																																																																				0.500	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407393.2	NM_006400		7	213						7	213	---	---	---	---
CYP27B1	1594	broad.mit.edu	37	12	58160653	58160654	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:58160653_58160654insC	ENST00000228606.4	-	1	380_381	c.171_172insG	c.(169-174)gggctgfs	p.L58fs	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	58					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	AGCCTCGACAGCCCCCCCTTGC	0.599																																						ENST00000228606.4																			0				central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15						c.(169-174)ggtgtcfs		cytochrome P450, family 27, subfamily B, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)																																			SO:0001589	frameshift_variant	1594				bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	g.chr12:58160653_58160654insC	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.172dupG	12.37:g.58160660_58160660dupC	ENSP00000228606:p.Leu58fs		Somatic				RP11-571M6.13_ENST00000546609.1_RNA	p.V58fs	NM_000785.3	NP_000776.1	WXS	Illumina GAIIx	Phase_I	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		1	380_381	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		58					B2RC61|Q548T3	Frame_Shift_Ins	INS	ENST00000228606.4	37	c.171_172insG	CCDS8954.1																																																																																				0.599	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		8	104						8	104	---	---	---	---
METTL21B	25895	broad.mit.edu	37	12	58174036	58174037	+	Splice_Site	INS	-	-	G	rs143311691|rs374056986	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:58174036_58174037insG	ENST00000300209.8	+	3	414		c.e3-1		RP11-571M6.15_ENST00000471530.1_Intron|TSFM_ENST00000543727.1_5'Flank|TSFM_ENST00000323833.8_5'Flank|METTL21B_ENST00000551420.1_Splice_Site|TSFM_ENST00000550559.1_5'Flank|METTL21B_ENST00000548256.1_Splice_Site|TSFM_ENST00000540550.1_5'Flank|TSFM_ENST00000454289.3_5'Flank|TSFM_ENST00000548851.1_5'Flank|TSFM_ENST00000350762.5_5'Flank|RP11-571M6.15_ENST00000553083.1_Intron|METTL21B_ENST00000333012.5_Splice_Site	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						CCTCTCTCTCAGGGGGGGATGT	0.584																																						ENST00000333012.5																			0				endometrium(1)|lung(1)	2						c.e4-1		methyltransferase like 21B																																				SO:0001630	splice_region_variant	25895					integral to membrane|intracellular	methyltransferase activity	g.chr12:58174036_58174037insG	AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"""family with sequence similarity 119, member B"""	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459	ENST00000300209.8:c.290-1->G	12.37:g.58174043_58174043dupG			Somatic				METTL21B_ENST00000551420.1_Splice_Site|RP11-571M6.15_ENST00000471530.1_Intron|RP11-571M6.15_ENST00000553083.1_Intron|METTL21B_ENST00000300209.8_Splice_Site|METTL21B_ENST00000548256.1_Splice_Site		NM_206914.1	NP_996797.1	WXS	Illumina GAIIx	Phase_I	Q96AZ1	MT21B_HUMAN			4	475	+								Q9H749|Q9Y3W2	Splice_Site	INS	ENST00000300209.8	37		CCDS8957.1																																																																																				0.584	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409268.1	NM_015433	Intron	7	186						7	186	---	---	---	---
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C	rs577942747		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:69233089_69233090insC	ENST00000350057.5	+	9	861_862	c.861_862insC	c.(862-864)cccfs	p.P288fs	MDM2_ENST00000517852.1_Intron|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.P118fs|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.P143fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.P143fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.P40fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.P40fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.P264fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.P87fs|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.P92fs|MDM2_ENST00000462284.1_Frame_Shift_Ins_p.P319fs|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.P118fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.P65fs|RP11-611O2.5_ENST00000553141.1_RNA|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.P258fs			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	313	ARF-binding.|Asp/Glu-rich (acidic).|Interaction with MTBP. {ECO:0000250}.|Necessary for interaction with USP2.|Region II.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTCC	0.426			A		"""sarcoma, glioma, colorectal, other"""																																	ENST00000462284.1				Dom	yes		12	12q15	4193	A	Mdm2 p53 binding protein homolog			"""M, O, E, L"""			"""sarcoma, glioma, colorectal, other"""		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19						c.(952-957)aaccccfs		MDM2 oncogene, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	4193				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:69233089_69233090insC		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.868dupC	12.37:g.69233096_69233096dupC	ENSP00000266624:p.Pro288fs		Somatic				MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs	p.NP318fs	NM_002392.4	NP_002383.2	WXS	Illumina GAIIx	Phase_I	Q00987	MDM2_HUMAN	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		11	1256_1257	+	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		312			Necessary for interaction with USP2.|Region II.		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Frame_Shift_Ins	INS	ENST00000350057.5	37	c.954_955insC																																																																																					0.426	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880		11	346						11	346	---	---	---	---
BEST3	144453	broad.mit.edu	37	12	70049361	70049362	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:70049361_70049362insG	ENST00000330891.5	-	10	1558_1559	c.1332_1333insC	c.(1330-1335)cccaggfs	p.R445fs	BEST3_ENST00000488961.1_Frame_Shift_Ins_p.R232fs|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Frame_Shift_Ins_p.R339fs	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	445					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGTGAGGCCCTGGGGGGGTTTC	0.594																																						ENST00000330891.5																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(1330-1335)ccgggcfs		bestrophin 3																																				SO:0001589	frameshift_variant	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70049361_70049362insG	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1333dupC	12.37:g.70049368_70049368dupG	ENSP00000332413:p.Arg445fs		Somatic				BEST3_ENST00000488961.1_Frame_Shift_Ins_p.PG231fs|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Frame_Shift_Ins_p.PG338fs	p.PG444fs	NM_032735.2	NP_116124.2	WXS	Illumina GAIIx	Phase_I	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		10	1558_1559	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		444					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Frame_Shift_Ins	INS	ENST00000330891.5	37	c.1332_1333insC	CCDS8992.2																																																																																				0.594	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		14	282						14	282	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1197)cgccccfs	p.RP398fs	NAV3_ENST00000228327.6_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.RP398fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	398						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGCTTTACGCCCCCCGCAGC	0.495										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1192-1194)cccfs		neuron navigator 3				2,3746		0,2,1872						4.8	1.0			90	1,7917		0,1,3958	no	frameshift	NAV3	NM_014903.4		0,3,5830	A1A1,A1R,RR		0.0126,0.0534,0.0257				3,11663				SO:0001589	frameshift_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400511_78400512insC	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1199dupC	12.37:g.78400517_78400517dupC	ENSP00000381007:p.Arg398fs	HNSCC(70;0.22)	Somatic				NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs	p.P398fs			WXS	Illumina GAIIx	Phase_I	Q8IVL0	NAV3_HUMAN			8	1366_1367	+			398					Q8NFW7|Q9Y2E7	Frame_Shift_Ins	INS	ENST00000397909.2	37	c.1193_1194insC																																																																																					0.495	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		10	217						10	217	---	---	---	---
USP30	84749	broad.mit.edu	37	12	109495864	109495865	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:109495864_109495865insC	ENST00000257548.5	+	3	420_421	c.327_328insC	c.(328-330)cccfs	p.P110fs	RNA5SP372_ENST00000390836.1_RNA|USP30_ENST00000392784.2_Frame_Shift_Ins_p.P79fs	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	110	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						ATCAGAAGGAGCCCCCCTCACA	0.485																																						ENST00000257548.5																			0				endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						c.(325-330)gaccccfs		ubiquitin specific peptidase 30																																				SO:0001589	frameshift_variant	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109495864_109495865insC	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.333dupC	12.37:g.109495870_109495870dupC	ENSP00000257548:p.Pro110fs		Somatic				USP30_ENST00000392784.2_Frame_Shift_Ins_p.DP78fs	p.DP109fs	NM_032663.3	NP_116052.2	WXS	Illumina GAIIx	Phase_I	Q70CQ3	UBP30_HUMAN			3	420_421	+			109					Q8WTU7|Q96JX4|Q9BSS3	Frame_Shift_Ins	INS	ENST00000257548.5	37	c.327_328insC	CCDS9123.2																																																																																				0.485	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		10	1062						10	1062	---	---	---	---
RASAL1	8437	broad.mit.edu	37	12	113565942	113565943	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:113565942_113565943insC	ENST00000261729.5	-	4	478_479	c.163_164insG	c.(163-165)gagfs	p.E55fs	RASAL1_ENST00000546530.1_Frame_Shift_Ins_p.E55fs|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Frame_Shift_Ins_p.E55fs|RASAL1_ENST00000548055.1_Frame_Shift_Ins_p.E55fs			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	55	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CGTGTACTCCTCCCCCCAGAAG	0.614																																						ENST00000546530.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(163-165)ggafs		RAS protein activator like 1 (GAP1 like)																																				SO:0001589	frameshift_variant	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113565942_113565943insC	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.164dupG	12.37:g.113565948_113565948dupC	ENSP00000261729:p.Glu55fs		Somatic				RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000261729.5_Frame_Shift_Ins_p.G55fs|RASAL1_ENST00000446861.3_Frame_Shift_Ins_p.G55fs|RASAL1_ENST00000548055.1_Frame_Shift_Ins_p.G55fs	p.G55fs	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	WXS	Illumina GAIIx	Phase_I	O95294	RASL1_HUMAN			4	448_449	-			55			C2 1.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Frame_Shift_Ins	INS	ENST00000261729.5	37	c.163_164insG	CCDS9165.1																																																																																				0.614	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		10	662						10	662	---	---	---	---
SLC8B1	80024	broad.mit.edu	37	12	113759072	113759073	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:113759072_113759073insC	ENST00000552014.1	-	4	752_753	c.237_238insG	c.(235-240)gggtacfs	p.Y80fs	SLC8B1_ENST00000553238.1_5'UTR|SLC8B1_ENST00000202831.3_Frame_Shift_Ins_p.Y80fs|SLC8B1_ENST00000546737.1_Frame_Shift_Ins_p.Y80fs			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	80					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										TAGTCCAGGTACCCCCCATCAC	0.624																																						ENST00000552014.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						c.(235-240)ggacctfs																																						SO:0001589	frameshift_variant	80024				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	g.chr12:113759072_113759073insC	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.238dupG	12.37:g.113759078_113759078dupC	ENSP00000447091:p.Tyr80fs		Somatic				SLC24A6_ENST00000202831.3_Frame_Shift_Ins_p.P80fs|SLC24A6_ENST00000546737.1_Frame_Shift_Ins_p.P80fs|SLC24A6_ENST00000553238.1_5'UTR	p.P80fs			WXS	Illumina GAIIx	Phase_I	Q6J4K2	NCKX6_HUMAN			4	752_753	-			80					A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Frame_Shift_Ins	INS	ENST00000552014.1	37	c.237_238insG	CCDS31909.1																																																																																				0.624	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959		7	693						7	693	---	---	---	---
KSR2	283455	broad.mit.edu	37	12	117977604	117977605	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:117977604_117977605insG	ENST00000339824.5	-	10	2333_2334	c.1606_1607insC	c.(1606-1608)ctcfs	p.L536fs	KSR2_ENST00000425217.1_Frame_Shift_Ins_p.L507fs|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Frame_Shift_Ins_p.L233fs			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	536	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTAGGAGGGAGGGGGGGTGCT	0.634																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1519-1521)cccfs		kinase suppressor of ras 2																																				SO:0001589	frameshift_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117977604_117977605insG	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1607dupC	12.37:g.117977611_117977611dupG	ENSP00000339952:p.Leu536fs		Somatic				KSR2_ENST00000339824.5_Frame_Shift_Ins_p.P536fs|KSR2_ENST00000302438.5_Frame_Shift_Ins_p.P233fs|KSR2_ENST00000545002.1_5'UTR	p.P507fs	NM_173598.4	NP_775869.3	WXS	Illumina GAIIx	Phase_I	Q6VAB6	KSR2_HUMAN			10	1573_1574	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		536					A0PJT2|Q3B828|Q8N775	Frame_Shift_Ins	INS	ENST00000339824.5	37	c.1519_1520insC																																																																																					0.634	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		8	182						8	182	---	---	---	---
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:120800902_120800903insC	ENST00000257552.2	-	6	433_434	c.345_346insG	c.(343-348)gggctgfs	p.L116fs	MSI1_ENST00000546622.1_5'Flank	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	116	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCACCGACAGCCCCCCCACAA	0.564																																						ENST00000257552.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19						c.(343-348)ggtgtcfs		musashi RNA-binding protein 1																																				SO:0001589	frameshift_variant	4440				nervous system development	cytoplasm|nucleus	nucleotide binding	g.chr12:120800902_120800903insC	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	7330	protein-coding gene	gene with protein product		603328	"""Musashi (Drosophila) homolog 1"", ""musashi homolog 1 (Drosophila)"""			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.346dupG	12.37:g.120800909_120800909dupC	ENSP00000257552:p.Leu116fs		Somatic					p.V116fs	NM_002442.3	NP_002433.1	WXS	Illumina GAIIx	Phase_I	O43347	MSI1H_HUMAN			6	433_434	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		116			RRM 2.		Q96PU0|Q96PU1|Q96PU2|Q96PU3	Frame_Shift_Ins	INS	ENST00000257552.2	37	c.345_346insG	CCDS9196.1																																																																																				0.564	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		19	191						19	191	---	---	---	---
MRPS31	10240	broad.mit.edu	37	13	41340958	41340959	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr13:41340958_41340959insG	ENST00000323563.6	-	2	399_400	c.363_364insC	c.(361-366)cccaaafs	p.K122fs		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	122						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GGTCTTCTTTTGGGGGGCTTTG	0.366																																						ENST00000323563.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13						c.(361-366)ccaaagfs		mitochondrial ribosomal protein S31																																				SO:0001589	frameshift_variant	10240					mitochondrion|ribosome	protein domain specific binding	g.chr13:41340958_41340959insG	Z68747	CCDS9372.1	13q14.11	2012-09-13			ENSG00000102738	ENSG00000102738		"""Mitochondrial ribosomal proteins / small subunits"""	16632	protein-coding gene	gene with protein product		611992				11279123, 8567980	Standard	NM_005830		Approved	IMOGN38	uc001uxm.4	Q92665	OTTHUMG00000016777	ENST00000323563.6:c.364dupC	13.37:g.41340964_41340964dupG	ENSP00000315397:p.Lys122fs		Somatic					p.PK121fs	NM_005830.3	NP_005821.2	WXS	Illumina GAIIx	Phase_I	Q92665	RT31_HUMAN		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)	2	399_400	-		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	121					B2RCS3|Q5VYC8|Q8WTV8	Frame_Shift_Ins	INS	ENST00000323563.6	37	c.363_364insC	CCDS9372.1																																																																																				0.366	MRPS31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044640.2			7	206						7	206	---	---	---	---
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080|rs370605552	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggcgafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.47																																						ENST00000379485.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1324-1329)gggagafs		kelch repeat and BTB (POZ) domain containing 6																																				SO:0001589	frameshift_variant	89890						protein binding	g.chr13:41705321_41705322insC	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1327dupG	13.37:g.41705328_41705328dupC	ENSP00000368799:p.Arg443fs		Somatic				KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	p.R443fs	NM_152903.4	NP_690867.3	WXS	Illumina GAIIx	Phase_I	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1560_1561	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	443					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Frame_Shift_Ins	INS	ENST00000379485.1	37	c.1326_1327insG	CCDS9376.1																																																																																				0.470	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		16	210						16	210	---	---	---	---
LMO7	4008	broad.mit.edu	37	13	76375005	76375006	+	Frame_Shift_Ins	INS	-	-	G	rs74596180	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr13:76375005_76375006insG	ENST00000341547.4	+	8	2064_2065	c.804_805insG	c.(805-807)gggfs	p.G269fs	LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000526202.1_Frame_Shift_Ins_p.G178fs|LMO7_ENST00000465261.2_5'UTR|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000357063.3_Frame_Shift_Ins_p.G269fs|LMO7_ENST00000377534.3_Frame_Shift_Ins_p.G269fs	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	269					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TCACGTTGAGAGGGGGGCGTGA	0.45																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(802-807)agggggfs		LIM domain 7																																				SO:0001589	frameshift_variant	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76375005_76375006insG	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.810dupG	13.37:g.76375011_76375011dupG	ENSP00000342112:p.Gly269fs		Somatic				LMO7_ENST00000377534.3_Frame_Shift_Ins_p.RG268fs|LMO7_ENST00000321797.8_5'UTR|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000526202.1_Frame_Shift_Ins_p.RG177fs|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000341547.4_Frame_Shift_Ins_p.RG268fs	p.RG268fs			WXS	Illumina GAIIx	Phase_I	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	8	2064_2065	+		Breast(118;0.0992)	268					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Frame_Shift_Ins	INS	ENST00000341547.4	37	c.804_805insG	CCDS9454.1																																																																																				0.450	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1	NM_005358		7	438						7	438	---	---	---	---
OR4M1	441670	broad.mit.edu	37	14	20248930	20248931	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr14:20248930_20248931insG	ENST00000315957.4	+	1	530_531	c.449_450insG	c.(448-453)atggggfs	p.MG150fs		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTCTCCTGGATGGGGGGCTTCA	0.505																																						ENST00000315957.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42						c.(448-450)aggfs		olfactory receptor, family 4, subfamily M, member 1																																				SO:0001589	frameshift_variant	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248930_20248931insG		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.455dupG	14.37:g.20248936_20248936dupG	ENSP00000319654:p.Met150fs		Somatic					p.R150fs	NM_001005500.1	NP_001005500.1	WXS	Illumina GAIIx	Phase_I	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	530_531	+	all_cancers(95;0.00108)		150					B9EH18|Q6IFA3	Frame_Shift_Ins	INS	ENST00000315957.4	37	c.449_450insG	CCDS32021.1																																																																																				0.505	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			8	733						8	733	---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20852646	20852647	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr14:20852646_20852647insC	ENST00000262715.5	-	23	3282_3283	c.3242_3243insG	c.(3241-3243)ggtfs	p.G1081fs	TEP1_ENST00000556935.1_Frame_Shift_Ins_p.G973fs|TEP1_ENST00000545983.1_5'Flank	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1081					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.V1082fs*47(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGCTGCCACACCCCCCCACTC	0.584																																						ENST00000262715.5																			1	Insertion - Frameshift(1)	p.V1082fs*47(1)	large_intestine(1)	NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(3241-3243)ggtfs		telomerase-associated protein 1																																				SO:0001589	frameshift_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20852646_20852647insC		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.3243dupG	14.37:g.20852653_20852653dupC	ENSP00000262715:p.Gly1081fs		Somatic				TEP1_ENST00000556935.1_Frame_Shift_Ins_p.G973fs	p.G1081fs	NM_007110.4	NP_009041.2	WXS	Illumina GAIIx	Phase_I	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	23	3282_3283	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1081					A0AUV9	Frame_Shift_Ins	INS	ENST00000262715.5	37	c.3242_3243insG	CCDS9548.1																																																																																				0.584	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		11	214						11	214	---	---	---	---
SUPT16H	11198	broad.mit.edu	37	14	21820849	21820850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr14:21820849_21820850insG	ENST00000216297.2	-	26	3464_3465	c.3126_3127insC	c.(3124-3129)cccaagfs	p.K1043fs		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	1043					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCTTTTTCTTGGGGGGTGCAG	0.48																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(3124-3129)ccagaafs		suppressor of Ty 16 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21820849_21820850insG	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.3127dupC	14.37:g.21820855_21820855dupG	ENSP00000216297:p.Lys1043fs		Somatic					p.E1043fs	NM_007192.3	NP_009123.1	WXS	Illumina GAIIx	Phase_I	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	26	3464_3465	-	all_cancers(95;0.00115)		1043					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Frame_Shift_Ins	INS	ENST00000216297.2	37	c.3126_3127insC	CCDS9569.1																																																																																				0.480	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			10	491						10	491	---	---	---	---
ACIN1	22985	broad.mit.edu	37	14	23549377	23549378	+	Frame_Shift_Ins	INS	-	-	G	rs386775580		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr14:23549377_23549378insG	ENST00000262710.1	-	6	1667_1668	c.1340_1341insC	c.(1339-1341)gctfs	p.A447fs	ACIN1_ENST00000555053.1_Frame_Shift_Ins_p.A447fs|ACIN1_ENST00000457657.1_Frame_Shift_Ins_p.A407fs|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000605057.1_Frame_Shift_Ins_p.A389fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	447			A -> P (in dbSNP:rs941719). {ECO:0000269|PubMed:10490026, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:18220336, ECO:0000269|PubMed:18669648, ECO:0000269|PubMed:9734811, ECO:0000269|Ref.2, ECO:0000269|Ref.4}.		apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GAATGAGGACAGCGGGGGCTGG	0.5																																						ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(1339-1341)ggtfs		apoptotic chromatin condensation inducer 1																																				SO:0001589	frameshift_variant	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23549377_23549378insG	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1341dupC	14.37:g.23549378_23549378dupG	ENSP00000262710:p.Ala447fs		Somatic				ACIN1_ENST00000555053.1_Frame_Shift_Ins_p.G447fs|ACIN1_ENST00000457657.1_Frame_Shift_Ins_p.G407fs|ACIN1_ENST00000605057.1_Frame_Shift_Ins_p.G389fs	p.G447fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	WXS	Illumina GAIIx	Phase_I	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	6	1667_1668	-	all_cancers(95;1.36e-05)		447		A -> P (in dbSNP:rs941719).			B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Frame_Shift_Ins	INS	ENST00000262710.1	37	c.1340_1341insC	CCDS9587.1																																																																																				0.500	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		8	166						8	166	---	---	---	---
KCNH5	27133	broad.mit.edu	37	14	63174302	63174303	+	Frame_Shift_Ins	INS	-	-	G	rs35940222		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr14:63174302_63174303insG	ENST00000322893.7	-	11	3158_3159	c.2890_2891insC	c.(2890-2892)cagfs	p.Q964fs	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	964					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACATGGTATCTGGGGGGGTACT	0.391																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(2890-2892)gatfs		potassium voltage-gated channel, subfamily H (eag-related), member 5			,	5,4259		0,5,2127					,	4.2	1.0		dbSNP_126	119	5,8249		0,5,4122	no	utr-3,frameshift	KCNH5	NM_172375.1,NM_139318.3	,	0,10,6249	A1A1,A1R,RR		0.0606,0.1173,0.0799	,	,		10,12508				SO:0001589	frameshift_variant	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63174302_63174303insG	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2891dupC	14.37:g.63174309_63174309dupG	ENSP00000321427:p.Gln964fs		Somatic				KCNH5_ENST00000420622.2_3'UTR	p.D964fs	NM_139318.3	NP_647479.2	WXS	Illumina GAIIx	Phase_I	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	3158_3159	-			964					C9JP98	Frame_Shift_Ins	INS	ENST00000322893.7	37	c.2890_2891insC	CCDS9756.1																																																																																				0.391	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		9	262						9	262	---	---	---	---
GALNT16	57452	broad.mit.edu	37	14	69800299	69800300	+	Frame_Shift_Ins	INS	-	-	G	rs144140025		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr14:69800299_69800300insG	ENST00000337827.4	+	9	1276_1277	c.949_950insG	c.(949-951)tggfs	p.W317fs	GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.W317fs|GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.W317fs	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	317	Catalytic subdomain B.				protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GATGGACATCTGGGGGGGAGAG	0.47																																						ENST00000337827.4																			0											c.(949-951)gggfs		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																																				SO:0001589	frameshift_variant	57452							g.chr14:69800299_69800300insG	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.956dupG	14.37:g.69800306_69800306dupG	ENSP00000336729:p.Trp317fs		Somatic				GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.G317fs|GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.G317fs	p.G317fs	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	WXS	Illumina GAIIx	Phase_I					9	1276_1277	+								Q4KMG3|Q58A55|Q9ULT9	Frame_Shift_Ins	INS	ENST00000337827.4	37	c.949_950insG	CCDS32107.1																																																																																				0.470	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		14	196						14	196	---	---	---	---
YLPM1	56252	broad.mit.edu	37	14	75248518	75248519	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr14:75248518_75248519insC	ENST00000552421.1	+	4	1896_1897	c.1772_1773insC	c.(1771-1776)ctccccfs	p.LP591fs	YLPM1_ENST00000325680.7_Frame_Shift_Ins_p.LP591fs|YLPM1_ENST00000238571.3_Intron			P49750	YLPM1_HUMAN	YLP motif containing 1	0					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCACCAGTTCTCCCCCCACCTT	0.599																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(1771-1773)cccfs		YLP motif containing 1																																				SO:0001589	frameshift_variant	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75248518_75248519insC	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.1778dupC	14.37:g.75248524_75248524dupC	ENSP00000447921:p.Leu591fs		Somatic				YLPM1_ENST00000552421.1_Frame_Shift_Ins_p.P591fs|YLPM1_ENST00000238571.3_Intron	p.P591fs	NM_019589.2	NP_062535.2	WXS	Illumina GAIIx	Phase_I	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	4	1896_1897	+			392					P49752|Q96I64|Q9P1V7	Frame_Shift_Ins	INS	ENST00000552421.1	37	c.1772_1773insC																																																																																					0.599	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		8	232						8	232	---	---	---	---
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G	rs570771230|rs571384652	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr15:22369023_22369024insG	ENST00000332663.2	+	1	546_547	c.448_449insG	c.(448-450)aggfs	p.R150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R150M(2)|p.R150W(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCTCCTGGAGGGGGGGCTTC	0.5													tgggggg|GGGGGGG|GGGGGGGG|complex_insertion	8	0.00159744	0.0045	0.0	5008	,	,		35803	0.0		0.0	False		,,,				2504	0.002					ENST00000332663.2																			3	Substitution - Missense(3)	p.R150M(2)|p.R150W(1)	lung(3)	NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63						c.(448-450)gggfs		olfactory receptor, family 4, subfamily M, member 2																																				SO:0001589	frameshift_variant	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369023_22369024insG	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.455dupG	15.37:g.22369030_22369030dupG	ENSP00000329467:p.Arg150fs		Somatic				RP11-69H14.6_ENST00000558896.1_RNA	p.G150fs	NM_001004719.2	NP_001004719.2	WXS	Illumina GAIIx	Phase_I	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	546_547	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	150					B9EH16|Q6IEY2	Frame_Shift_Ins	INS	ENST00000332663.2	37	c.448_449insG	CCDS32172.1																																																																																				0.500	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			17	452						17	452	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34015000	34015001	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr15:34015000_34015001insG	ENST00000389232.4	+	44	6774_6775	c.6704_6705insG	c.(6703-6708)gaggggfs	p.EG2235fs	Y_RNA_ENST00000363138.1_RNA|RYR3_ENST00000415757.3_Frame_Shift_Ins_p.EG2235fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2235	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGCGGGGTGAGGGGGGAAACG	0.584																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(6703-6705)gggfs		ryanodine receptor 3																																				SO:0001589	frameshift_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34015000_34015001insG		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6710dupG	15.37:g.34015006_34015006dupG	ENSP00000373884:p.Glu2235fs		Somatic				RYR3_ENST00000415757.3_Frame_Shift_Ins_p.G2235fs	p.G2235fs	NM_001036.3	NP_001027.3	WXS	Illumina GAIIx	Phase_I	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	44	6774_6775	+		all_lung(180;7.18e-09)	2235			4 X approximate repeats.		O15175|Q15412	Frame_Shift_Ins	INS	ENST00000389232.4	37	c.6704_6705insG	CCDS45210.1																																																																																				0.584	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			9	533						9	533	---	---	---	---
BMF	90427	broad.mit.edu	37	15	40396470	40396471	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr15:40396470_40396471insG	ENST00000354670.4	-	4	597_598	c.363_364insC	c.(361-366)cccgaafs	p.E122fs	BMF_ENST00000431415.3_Frame_Shift_Ins_p.E122fs|BMF_ENST00000397573.1_Frame_Shift_Ins_p.E122fs|BMF_ENST00000220446.4_Intron|BMF_ENST00000561282.1_Frame_Shift_Ins_p.E122fs|BMF_ENST00000561360.1_Frame_Shift_Ins_p.E122fs|BMF_ENST00000558774.1_Intron|BMF_ENST00000559701.1_Intron	NM_001003940.1	NP_001003940.1	Q96LC9	BMF_HUMAN	Bcl2 modifying factor	122					anoikis (GO:0043276)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)		CACTGCCCTTCGGGGGGCTGCT	0.569																																						ENST00000354670.4																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6						c.(361-366)ccaaggfs		Bcl2 modifying factor																																				SO:0001589	frameshift_variant	90427				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|mitochondrial outer membrane|myosin complex|plasma membrane	protein binding	g.chr15:40396470_40396471insG	BC060783	CCDS10052.1, CCDS32196.1, CCDS45223.1	15q14	2014-03-07			ENSG00000104081	ENSG00000104081			24132	protein-coding gene	gene with protein product		606266				11546872	Standard	NM_001003943		Approved	FLJ00065	uc001zkw.4	Q96LC9	OTTHUMG00000129875	ENST00000354670.4:c.364dupC	15.37:g.40396476_40396476dupG	ENSP00000346697:p.Glu122fs		Somatic				BMF_ENST00000558774.1_Intron|BMF_ENST00000431415.3_Frame_Shift_Ins_p.R122fs|BMF_ENST00000397573.1_Frame_Shift_Ins_p.R122fs|BMF_ENST00000220446.4_Intron|BMF_ENST00000561360.1_Frame_Shift_Ins_p.R122fs|BMF_ENST00000561282.1_Frame_Shift_Ins_p.R122fs|BMF_ENST00000559701.1_Intron	p.R122fs	NM_001003940.1	NP_001003940.1	WXS	Illumina GAIIx	Phase_I	Q96LC9	BMF_HUMAN		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)	4	597_598	-		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	122					Q2M396|Q6NT30|Q6NT56|Q6P9F6|Q7Z7D4|Q7Z7D5|Q9H7K7	Frame_Shift_Ins	INS	ENST00000354670.4	37	c.363_364insC	CCDS10052.1																																																																																				0.569	BMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252119.1	NM_033503		8	254						8	254	---	---	---	---
SORD	6652	broad.mit.edu	37	15	45353365	45353366	+	Frame_Shift_Ins	INS	-	-	C	rs200121839|rs11542063	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr15:45353365_45353366insC	ENST00000267814.9	+	4	546_547	c.366_367insC	c.(367-369)cccfs	p.P123fs	RP11-109D20.1_ENST00000560324.1_RNA|SORD_ENST00000558580.1_Frame_Shift_Ins_p.P102fs	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	123					fructose biosynthetic process (GO:0046370)|glucose metabolic process (GO:0006006)|L-xylitol catabolic process (GO:0051160)|L-xylitol metabolic process (GO:0051164)|sorbitol catabolic process (GO:0006062)|sperm motility (GO:0030317)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)	carbohydrate binding (GO:0030246)|L-iditol 2-dehydrogenase activity (GO:0003939)|NAD binding (GO:0051287)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)		TCTGTGCCACGCCCCCCGATGA	0.53																																						ENST00000267814.9																			0				endometrium(2)|large_intestine(3)|lung(4)	9						c.(364-369)acccccfs		sorbitol dehydrogenase	NADH(DB00157)																																			SO:0001589	frameshift_variant	6652				fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding	g.chr15:45353365_45353366insC		CCDS10116.1	15q15-q21.1	2012-10-02			ENSG00000140263	ENSG00000140263	1.1.1.14		11184	protein-coding gene	gene with protein product		182500				7782086	Standard	NM_003104		Approved		uc001zul.4	Q00796	OTTHUMG00000131265	ENST00000267814.9:c.372dupC	15.37:g.45353371_45353371dupC	ENSP00000267814:p.Pro123fs		Somatic				SORD_ENST00000558580.1_Frame_Shift_Ins_p.TP101fs	p.TP122fs	NM_003104.5	NP_003095.2	WXS	Illumina GAIIx	Phase_I	Q00796	DHSO_HUMAN		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	4	546_547	+		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)	122					B2R655|B7Z3A6|J3JZZ5|Q16682|Q9UMD6	Frame_Shift_Ins	INS	ENST00000267814.9	37	c.366_367insC	CCDS10116.1																																																																																				0.530	SORD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254033.3			7	270						7	270	---	---	---	---
IGF1R	3480	broad.mit.edu	37	15	99251108	99251109	+	Frame_Shift_Ins	INS	-	-	G	rs121912426		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr15:99251108_99251109insG	ENST00000268035.6	+	2	1023_1024	c.412_413insG	c.(412-414)cggfs	p.R138fs	IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.R138fs	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	138			R -> Q (in IGF1RES; has decreased IGF1R function). {ECO:0000269|PubMed:14657428}.		axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GAACATTACTCGGGGGGCCATC	0.51																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	GRCh37	CM035076	IGF1R	M	rs121912426	c.(412-414)gggfs		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)																																			SO:0001589	frameshift_variant	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99251108_99251109insG	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.418dupG	15.37:g.99251114_99251114dupG	ENSP00000268035:p.Arg138fs		Somatic				IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.G138fs	p.G138fs	NM_000875.3	NP_000866.1	WXS	Illumina GAIIx	Phase_I	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		2	1023_1024	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		138		R -> Q (in IGF1RES; has decreased IGF1R function).			B1B5Y2|Q14CV2|Q9UCC0	Frame_Shift_Ins	INS	ENST00000268035.6	37	c.412_413insG	CCDS10378.1																																																																																				0.510	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		7	268						7	268	---	---	---	---
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr16:14980694_14980695insC	ENST00000287667.7	+	28	3470_3471	c.3299_3300insC	c.(3298-3303)ttccccfs	p.FP1100fs		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1100						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTCTTCCATTTCCCCCCACTGC	0.475																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(3298-3300)tccfs		NODAL modulator 1																																				SO:0001589	frameshift_variant	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14980694_14980695insC	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.3305dupC	16.37:g.14980700_14980700dupC	ENSP00000287667:p.Phe1100fs		Somatic					p.S1100fs	NM_014287.3	NP_055102.3	WXS	Illumina GAIIx	Phase_I	Q15155	NOMO1_HUMAN			28	3470_3471	+			1100					P78421|Q8IW21|Q96DG0	Frame_Shift_Ins	INS	ENST00000287667.7	37	c.3299_3300insC	CCDS10556.1																																																																																				0.475	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			18	1091						18	1091	---	---	---	---
ACSM2A	123876	broad.mit.edu	37	16	20489924	20489925	+	Frame_Shift_Ins	INS	-	-	C	rs374997353		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr16:20489924_20489925insC	ENST00000573854.1	+	10	1320_1321	c.1206_1207insC	c.(1207-1209)cccfs	p.P403fs	ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.P403fs|ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.P403fs|ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.P324fs|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.P403fs|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.P175fs	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	403					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCAACGTCCTGCCCCCCGGCAC	0.505																																						ENST00000573854.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(1204-1209)ctccccfs		acyl-CoA synthetase medium-chain family member 2A																																				SO:0001589	frameshift_variant	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20489924_20489925insC	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1212dupC	16.37:g.20489930_20489930dupC	ENSP00000459451:p.Pro403fs		Somatic				ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.LP323fs|ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.LP174fs|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.LP402fs	p.LP402fs	NM_001010845.2	NP_001010845.1	WXS	Illumina GAIIx	Phase_I	Q08AH3	ACS2A_HUMAN			10	1320_1321	+			402					B3KTT9|O75202	Frame_Shift_Ins	INS	ENST00000573854.1	37	c.1206_1207insC	CCDS32401.1																																																																																				0.505	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		7	255						7	255	---	---	---	---
ACSM2B	348158	broad.mit.edu	37	16	20556547	20556548	+	Frame_Shift_Ins	INS	-	-	G	rs367747928|rs146499503		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr16:20556547_20556548insG	ENST00000329697.6	-	10	1380_1381	c.1212_1213insC	c.(1210-1215)cccggcfs	p.G405fs	ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.G405fs|ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.G326fs|ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.G405fs	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	405					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCTTCTGTGCCGGGGGGCAGGA	0.515																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(1210-1215)ccgcacfs		acyl-CoA synthetase medium-chain family member 2B																																				SO:0001589	frameshift_variant	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20556547_20556548insG	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1213dupC	16.37:g.20556553_20556553dupG	ENSP00000327453:p.Gly405fs		Somatic				ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.H405fs	p.H405fs	NM_001105069.1	NP_001098539.1	WXS	Illumina GAIIx	Phase_I	Q68CK6	ACS2B_HUMAN			10	1380_1381	-			405					Q86YT1	Frame_Shift_Ins	INS	ENST00000329697.6	37	c.1212_1213insC	CCDS10586.1																																																																																				0.515	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		7	292						7	292	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20966297	20966298	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr16:20966297_20966298insG	ENST00000261383.3	-	55	10907_10908	c.10908_10909insC	c.(10906-10911)cccaaafs	p.K3637fs	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3637	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CGGAGCCCTTTGGGGGGCTCAT	0.51																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(10906-10911)ccaaggfs		dynein, axonemal, heavy chain 3																																				SO:0001589	frameshift_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20966297_20966298insG	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10909dupC	16.37:g.20966303_20966303dupG	ENSP00000261383:p.Lys3637fs		Somatic				DNAH3_ENST00000415178.1_3'UTR	p.R3637fs	NM_017539.1	NP_060009.1	WXS	Illumina GAIIx	Phase_I	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	55	10907_10908	-			3637			AAA 6 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Frame_Shift_Ins	INS	ENST00000261383.3	37	c.10908_10909insC	CCDS10594.1																																																																																				0.510	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		7	342						7	342	---	---	---	---
POLR3E	55718	broad.mit.edu	37	16	22339833	22339834	+	Frame_Shift_Ins	INS	-	-	C	rs200740325	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr16:22339833_22339834insC	ENST00000299853.5	+	19	2036_2037	c.1869_1870insC	c.(1870-1872)cccfs	p.P624fs	POLR3E_ENST00000418581.2_Frame_Shift_Ins_p.P588fs|POLR3E_ENST00000564209.1_Frame_Shift_Ins_p.P624fs|POLR3E_ENST00000359210.4_Frame_Shift_Ins_p.P624fs	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	624					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		TTGGTCAGTTTCCCCCCCAGAC	0.574																																						ENST00000299853.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1867-1872)ttccccfs		polymerase (RNA) III (DNA directed) polypeptide E (80kD)																																				SO:0001589	frameshift_variant	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22339833_22339834insC	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.1876dupC	16.37:g.22339840_22339840dupC	ENSP00000299853:p.Pro624fs		Somatic				POLR3E_ENST00000418581.2_Frame_Shift_Ins_p.FP587fs|POLR3E_ENST00000359210.4_Frame_Shift_Ins_p.FP623fs|POLR3E_ENST00000564209.1_Frame_Shift_Ins_p.FP623fs	p.FP623fs	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	WXS	Illumina GAIIx	Phase_I	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	19	2036_2037	+			623					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Frame_Shift_Ins	INS	ENST00000299853.5	37	c.1869_1870insC	CCDS10605.1																																																																																				0.574	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119		7	138						7	138	---	---	---	---
ARHGAP17	55114	broad.mit.edu	37	16	24942179	24942180	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr16:24942179_24942180insG	ENST00000289968.6	-	19	2509_2510	c.2440_2441insC	c.(2440-2442)caafs	p.Q814fs	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Frame_Shift_Ins_p.Q736fs	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	814	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		ACCAGGAGGTTGGGGGGGTGGG	0.574																																						ENST00000289968.6																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(2440-2442)accfs		Rho GTPase activating protein 17																																				SO:0001589	frameshift_variant	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24942179_24942180insG	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.2441dupC	16.37:g.24942186_24942186dupG	ENSP00000289968:p.Gln814fs		Somatic				ARHGAP17_ENST00000303665.5_Frame_Shift_Ins_p.T736fs|ARHGAP17_ENST00000441763.2_3'UTR	p.T814fs	NM_001006634.1	NP_001006635.1	WXS	Illumina GAIIx	Phase_I	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	19	2509_2510	-			814			Pro-rich.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Frame_Shift_Ins	INS	ENST00000289968.6	37	c.2440_2441insC	CCDS32409.1																																																																																				0.574	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		10	161						10	161	---	---	---	---
SEZ6L2	26470	broad.mit.edu	37	16	29891248	29891249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr16:29891248_29891249insG	ENST00000308713.5	-	9	2036_2037	c.1509_1510insC	c.(1507-1512)cccaatfs	p.N504fs	SEZ6L2_ENST00000350527.3_Frame_Shift_Ins_p.N434fs|SEZ6L2_ENST00000537485.1_Frame_Shift_Ins_p.N460fs|SEZ6L2_ENST00000346932.5_Frame_Shift_Ins_p.N390fs	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	504	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCGATGGCATTGGGGGGCCCAG	0.604																																						ENST00000308713.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1507-1512)ccatgcfs		seizure related 6 homolog (mouse)-like 2																																				SO:0001589	frameshift_variant	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29891248_29891249insG	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1510dupC	16.37:g.29891254_29891254dupG	ENSP00000312550:p.Asn504fs		Somatic				SEZ6L2_ENST00000346932.5_Frame_Shift_Ins_p.C390fs|SEZ6L2_ENST00000537485.1_Frame_Shift_Ins_p.C460fs|SEZ6L2_ENST00000350527.3_Frame_Shift_Ins_p.C434fs	p.C504fs	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	WXS	Illumina GAIIx	Phase_I	Q6UXD5	SE6L2_HUMAN			9	2036_2037	-			504			Sushi 2.		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Frame_Shift_Ins	INS	ENST00000308713.5	37	c.1509_1510insC	CCDS10659.1																																																																																				0.604	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		7	545						7	545	---	---	---	---
TBX6	6911	broad.mit.edu	37	16	30100077	30100078	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr16:30100077_30100078insC	ENST00000395224.2	-	5	763_764	c.704_705insG	c.(703-705)ggcfs	p.G235fs	TBX6_ENST00000279386.2_Frame_Shift_Ins_p.G235fs|TBX6_ENST00000553607.1_Frame_Shift_Ins_p.G235fs	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	235					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						AGGAGGCCATGCCCCCCCAGTG	0.629																																						ENST00000553607.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						c.(703-705)gatfs		T-box 6																																				SO:0001589	frameshift_variant	6911				anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:30100077_30100078insC	AJ007989	CCDS10670.1	16p11.2	2008-02-05			ENSG00000149922	ENSG00000149922		"""T-boxes"""	11605	protein-coding gene	gene with protein product		602427				9888994, 9933572	Standard	NM_004608		Approved		uc010veh.2	O95947	OTTHUMG00000132115	ENST00000395224.2:c.705dupG	16.37:g.30100084_30100084dupC	ENSP00000378650:p.Gly235fs		Somatic				TBX6_ENST00000279386.2_Frame_Shift_Ins_p.D235fs|TBX6_ENST00000395224.2_Frame_Shift_Ins_p.D235fs	p.D235fs			WXS	Illumina GAIIx	Phase_I	O95947	TBX6_HUMAN			4	1397_1398	-			235					Q8TAS4|Q9HA44	Frame_Shift_Ins	INS	ENST00000395224.2	37	c.704_705insG	CCDS10670.1																																																																																				0.629	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2	NM_004608, NM_080758		11	165						11	165	---	---	---	---
ITGAD	3681	broad.mit.edu	37	16	31422475	31422476	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr16:31422475_31422476insC	ENST00000389202.2	+	13	1484_1485	c.1435_1436insC	c.(1435-1437)gccfs	p.A479fs		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	479					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCTCATTGGGGCCCCCCATTAC	0.649																																						ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(1435-1437)cccfs		integrin, alpha D																																				SO:0001589	frameshift_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31422475_31422476insC	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1441dupC	16.37:g.31422481_31422481dupC	ENSP00000373854:p.Ala479fs		Somatic					p.P479fs	NM_005353.2	NP_005344.2	WXS	Illumina GAIIx	Phase_I	Q13349	ITAD_HUMAN			13	1484_1485	+			479					Q15575|Q15576	Frame_Shift_Ins	INS	ENST00000389202.2	37	c.1435_1436insC	CCDS32438.1																																																																																				0.649	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		7	671						7	671	---	---	---	---
ITGAD	3681	broad.mit.edu	37	16	31422532	31422533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr16:31422532_31422533insG	ENST00000389202.2	+	13	1541_1542	c.1492_1493insG	c.(1492-1494)aggfs	p.R498fs		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	498					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCCCTTGCCTAGGGGGGTGAGT	0.629																																						ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(1492-1494)gggfs		integrin, alpha D				1,4263		0,1,2131						-8.3	0.0			80	0,8250		0,0,4125	no	frameshift	ITGAD	NM_005353.2		0,1,6256	A1A1,A1R,RR		0.0,0.0235,0.0080				1,12513				SO:0001589	frameshift_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31422532_31422533insG	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1497dupG	16.37:g.31422538_31422538dupG	ENSP00000373854:p.Arg498fs		Somatic					p.G498fs	NM_005353.2	NP_005344.2	WXS	Illumina GAIIx	Phase_I	Q13349	ITAD_HUMAN			13	1541_1542	+			498					Q15575|Q15576	Frame_Shift_Ins	INS	ENST00000389202.2	37	c.1492_1493insG	CCDS32438.1																																																																																				0.629	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		7	823						7	823	---	---	---	---
RBL2	5934	broad.mit.edu	37	16	53504347	53504348	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr16:53504347_53504348insG	ENST00000262133.6	+	16	2435_2436	c.2298_2299insG	c.(2299-2301)gggfs	p.G767fs	RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	767	Pocket; binds E1A.|Spacer.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AAGTCAATGTTGGGGGGCAGGC	0.48																																						ENST00000262133.6																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2296-2301)gtggggfs		retinoblastoma-like 2 (p130)																																				SO:0001589	frameshift_variant	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53504347_53504348insG	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.2304dupG	16.37:g.53504353_53504353dupG	ENSP00000262133:p.Gly767fs		Somatic				RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	p.VG766fs	NM_005611.3	NP_005602.3	WXS	Illumina GAIIx	Phase_I	Q08999	RBL2_HUMAN			16	2435_2436	+			766			Pocket; binds E1A.|Spacer.		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Frame_Shift_Ins	INS	ENST00000262133.6	37	c.2298_2299insG	CCDS10748.1																																																																																				0.480	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		10	158						10	158	---	---	---	---
GAS8	2622	broad.mit.edu	37	16	90095545	90095546	+	Intron	INS	-	-	CTACGGGGCAGCCTATGGGGCAGG	rs552590997|rs201803875	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr16:90095545_90095546insCTACGGGGCAGCCTATGGGGCAGG	ENST00000268699.4	+	2	212				C16orf3_ENST00000408886.2_In_Frame_Ins_p.68_69insACPIGCPV|GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		GGCCATGGAGCctacggggcag	0.658																																						ENST00000408886.2																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(205-207)ctc>CCTGCCCCATAGGCTGCCCCGTAGctc		chromosome 16 open reading frame 3																																				SO:0001627	intron_variant	750							g.chr16:90095545_90095546insCTACGGGGCAGCCTATGGGGCAGG	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.90+1415->CTACGGGGCAGCCTATGGGGCAGG	16.37:g.90095545_90095546insCTACGGGGCAGCCTATGGGGCAGG			Somatic				GAS8_ENST00000540721.1_Intron|GAS8_ENST00000268699.4_Intron|GAS8_ENST00000536122.1_Intron	p.68_69insPAP*AAP*	NM_001214.3	NP_001205.3	WXS	Illumina GAIIx	Phase_I	O95177	CP003_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	1	763_764	-		all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239)	76					B2RCT1|B7Z4U1|G3V1L5|Q2M234	In_Frame_Ins	INS	ENST00000268699.4	37	c.205_206insCCTGCCCCATAGGCTGCCCCGTAG	CCDS10992.1																																																																																				0.658	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			3	2						3	2	---	---	---	---
PAFAH1B1	5048	broad.mit.edu	37	17	2583499	2583500	+	Frame_Shift_Ins	INS	-	-	G	rs113994201|rs113994200		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:2583499_2583500insG	ENST00000397195.5	+	10	1495_1496	c.1044_1045insG	c.(1045-1047)gggfs	p.G349fs	PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.G144fs|PAFAH1B1_ENST00000572915.2_Intron|RN7SL608P_ENST00000492377.2_RNA	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TGTTCCATTCTGGGGGGAAGTT	0.401																																						ENST00000397195.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						c.(1042-1047)tcggggfs		platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)																																				SO:0001589	frameshift_variant	5048				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity	g.chr17:2583499_2583500insG	L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"""WD repeat domain containing"""	8574	protein-coding gene	gene with protein product	"""lissencephaly-1"""	601545	"""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)"", ""Miller-Dieker syndrome chromosome region"", ""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"""	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.1050dupG	17.37:g.2583505_2583505dupG	ENSP00000380378:p.Gly349fs		Somatic				PAFAH1B1_ENST00000397193.3_3'UTR|PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.SG143fs	p.SG348fs	NM_000430.3	NP_000421.1	WXS	Illumina GAIIx	Phase_I	P43034	LIS1_HUMAN			10	1495_1496	+			348			Interaction with dynein and dynactin.			Frame_Shift_Ins	INS	ENST00000397195.5	37	c.1044_1045insG	CCDS32528.1																																																																																				0.401	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437797.2	NM_000430		10	589						10	589	---	---	---	---
FXR2	9513	broad.mit.edu	37	17	7496121	7496122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:7496121_7496122insG	ENST00000250113.7	-	14	1953_1954	c.1619_1620insC	c.(1618-1620)ccafs	p.P540fs	SOX15_ENST00000570788.1_5'Flank|FXR2_ENST00000573057.1_5'Flank|SOX15_ENST00000538513.2_5'Flank|SOX15_ENST00000250055.2_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	540						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P540fs*32(1)|p.A541fs*14(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TGGCACTTGCTGGGGGGGGTTC	0.609																																						ENST00000250113.7																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.P540fs*32(1)|p.A541fs*14(1)	large_intestine(2)	NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(1618-1620)cgcfs		fragile X mental retardation, autosomal homolog 2																																				SO:0001589	frameshift_variant	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7496121_7496122insG	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1620dupC	17.37:g.7496129_7496129dupG	ENSP00000250113:p.Pro540fs		Somatic					p.R540fs	NM_004860.3	NP_004851.2	WXS	Illumina GAIIx	Phase_I	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	14	1953_1954	-			540					B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Frame_Shift_Ins	INS	ENST00000250113.7	37	c.1619_1620insC	CCDS45604.1																																																																																				0.609	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			7	54						7	54	---	---	---	---
ARHGEF15	22899	broad.mit.edu	37	17	8222137	8222138	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:8222137_8222138insG	ENST00000361926.3	+	12	2052_2053	c.1942_1943insG	c.(1942-1944)aggfs	p.R648fs	ARHGEF15_ENST00000582060.1_3'UTR|AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.R648fs	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	648					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						AGGGTGCCGGAGGGGGGGCGTG	0.634																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1942-1944)gggfs		Rho guanine nucleotide exchange factor (GEF) 15																																				SO:0001589	frameshift_variant	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8222137_8222138insG	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1949dupG	17.37:g.8222144_8222144dupG	ENSP00000355026:p.Arg648fs		Somatic				ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.G648fs|ARHGEF15_ENST00000582060.1_3'UTR	p.G648fs	NM_173728.3	NP_776089.2	WXS	Illumina GAIIx	Phase_I	O94989	ARHGF_HUMAN			12	2052_2053	+			648					A8K6G1|Q8N449|Q9H8B4	Frame_Shift_Ins	INS	ENST00000361926.3	37	c.1942_1943insG	CCDS11139.1																																																																																				0.634	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		9	184						9	184	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29576097	29576098	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:29576097_29576098insC	ENST00000358273.4	+	30	4453_4454	c.4070_4071insC	c.(4069-4074)ttccccfs	p.FP1357fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.FP1357fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1357	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCCTCAGAATTCCCCCCTCAAC	0.406			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(4069-4071)tccfs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29576097_29576098insC		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4076dupC	17.37:g.29576103_29576103dupC	ENSP00000351015:p.Phe1357fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	Somatic				NF1_ENST00000356175.3_Frame_Shift_Ins_p.S1357fs	p.S1357fs	NM_001042492.2	NP_001035957.1	WXS	Illumina GAIIx	Phase_I	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	30	4453_4454	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1357			Ras-GAP.		O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	c.4070_4071insC	CCDS42292.1																																																																																				0.406	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		7	255						7	255	---	---	---	---
RAB11FIP4	84440	broad.mit.edu	37	17	29758897	29758898	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:29758897_29758898insG	ENST00000325874.8	+	2	455_456	c.226_227insG	c.(226-228)cggfs	p.R76fs		NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	76	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)	p.?(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GGACTTTTGCCGGGGGGTGTTC	0.579																																						ENST00000325874.8																			1	Unknown(1)	p.?(1)	autonomic_ganglia(1)	endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(226-228)gggfs		RAB11 family interacting protein 4 (class II)																																				SO:0001589	frameshift_variant	84440				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr17:29758897_29758898insG	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"""EF-hand domain containing"""	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.232dupG	17.37:g.29758903_29758903dupG	ENSP00000312837:p.Arg76fs		Somatic					p.G76fs	NM_032932.3	NP_116321.2	WXS	Illumina GAIIx	Phase_I	Q86YS3	RFIP4_HUMAN			2	455_456	+		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)	76			EF-hand.		Q52LI1|Q8N829|Q8NDT7|Q969D8	Frame_Shift_Ins	INS	ENST00000325874.8	37	c.226_227insG	CCDS11267.1																																																																																				0.579	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932		10	231						10	231	---	---	---	---
TAF15	8148	broad.mit.edu	37	17	34171885	34171886	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:34171885_34171886insG	ENST00000588240.1	+	15	1697_1698	c.1582_1583insG	c.(1582-1584)cggfs	p.R528fs	TAF15_ENST00000592237.1_Splice_Site_p.G333fs|TAF15_ENST00000311979.3_Frame_Shift_Ins_p.R525fs	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|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)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		agACAGAAGCCGGGGGGGCTAT	0.609			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																	ENST00000588240.1				Dom	yes		17	17q11.1-q11.2	8148	T	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""			"""L, M"""	"""TEC, CHN1, ZNF384"""		"""extraskeletal myxoid chondrosarcomas, ALL"""	TAF15/NR4A3(33)	0				lung(1)|ovary(1)|skin(2)|stomach(1)	5						c.(1582-1584)gggfs		TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa																																				SO:0001589	frameshift_variant	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34171885_34171886insG	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1589dupG	17.37:g.34171892_34171892dupG	ENSP00000466950:p.Arg528fs		Somatic				TAF15_ENST00000311979.3_Frame_Shift_Ins_p.G525fs|TAF15_ENST00000592237.1_Splice_Site_p.TG332_splice	p.G528fs	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	WXS	Illumina GAIIx	Phase_I	Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	15	1697_1698	+		Ovarian(249;0.17)	528			21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.		D3DPM5|Q15775|Q5T077	Frame_Shift_Ins	INS	ENST00000588240.1	37	c.1582_1583insG	CCDS32623.1																																																																																				0.609	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215		7	127						7	127	---	---	---	---
ACACA	31	broad.mit.edu	37	17	35600370	35600371	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:35600370_35600371insG	ENST00000394406.2	-	22	2926_2927	c.2736_2737insC	c.(2734-2739)cccaatfs	p.N913fs	ACACA_ENST00000353139.5_Frame_Shift_Ins_p.N950fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.N835fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.N855fs	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	913					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCTCCACATTGGGGGGAATGC	0.47																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(2845-2850)ccatgtfs		acetyl-CoA carboxylase alpha	Biotin(DB00121)																																			SO:0001589	frameshift_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35600370_35600371insG	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.2737dupC	17.37:g.35600376_35600376dupG	ENSP00000377928:p.Asn913fs		Somatic				ACACA_ENST00000394406.2_Frame_Shift_Ins_p.C913fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.C835fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.C855fs	p.C950fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	WXS	Illumina GAIIx	Phase_I	Q13085	ACACA_HUMAN			22	3328_3329	-		Breast(25;0.00157)|Ovarian(249;0.15)	913					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Frame_Shift_Ins	INS	ENST00000394406.2	37	c.2847_2848insC	CCDS11317.1																																																																																				0.470	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		9	675						9	675	---	---	---	---
EME1	146956	broad.mit.edu	37	17	48458137	48458138	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:48458137_48458138insT	ENST00000338165.4	+	9	1632_1633	c.1550_1551insT	c.(1549-1554)tgttttfs	p.CF517fs	EME1_ENST00000511648.2_Frame_Shift_Ins_p.CF530fs|EME1_ENST00000393271.2_Frame_Shift_Ins_p.CF530fs	NM_152463.2	NP_689676.2	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	517					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TATCAGCAGTGTTTTTCGGATA	0.515								Direct reversal of damage;Homologous recombination																														ENST00000393271.2																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19						c.(1588-1590)tttfs	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease 1																																				SO:0001589	frameshift_variant	146956				DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding	g.chr17:48458137_48458138insT	BC016470	CCDS11565.1, CCDS54141.1	17q21.33	2013-07-03	2013-07-03			ENSG00000154920			24965	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae)"""	610885	"""essential meiotic endonuclease 1 homolog 1 (S. pombe)"""			12721304	Standard	NM_001166131		Approved	FLJ31364, MMS4L, SLX2A	uc010dbp.2	Q96AY2		ENST00000338165.4:c.1555dupT	17.37:g.48458142_48458142dupT	ENSP00000339897:p.Cys517fs		Somatic				EME1_ENST00000338165.4_Frame_Shift_Ins_p.F517fs|EME1_ENST00000511648.2_Frame_Shift_Ins_p.F530fs	p.F530fs	NM_001166131.1	NP_001159603.1	WXS	Illumina GAIIx	Phase_I	Q96AY2	EME1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.43e-08)		9	1671_1672	+	Breast(11;5.62e-19)		517					Q96N62	Frame_Shift_Ins	INS	ENST00000338165.4	37	c.1589_1590insT	CCDS11565.1																																																																																				0.515	EME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367118.3	NM_152463		72	137						72	137	---	---	---	---
CA10	56934	broad.mit.edu	37	17	50008356	50008357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:50008356_50008357insC	ENST00000285273.4	-	4	1383_1384	c.272_273insG	c.(271-273)ggcfs	p.G91fs	CA10_ENST00000442502.2_Frame_Shift_Ins_p.G91fs|CA10_ENST00000340813.6_Frame_Shift_Ins_p.G97fs|CA10_ENST00000451037.2_Frame_Shift_Ins_p.G91fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.G16fs	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	91					brain development (GO:0007420)			p.G91V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	TTACCTTCCTGCCCCCCGTGTT	0.49																																						ENST00000451037.2																			1	Substitution - Missense(1)	p.G91V(1)	lung(1)	cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41						c.(271-273)gagfs		carbonic anhydrase X																																				SO:0001589	frameshift_variant	56934				brain development			g.chr17:50008356_50008357insC	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.273dupG	17.37:g.50008362_50008362dupC	ENSP00000285273:p.Gly91fs		Somatic				CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs|CA10_ENST00000340813.6_Frame_Shift_Ins_p.E97fs|CA10_ENST00000442502.2_Frame_Shift_Ins_p.E91fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs	p.E91fs	NM_020178.4	NP_064563.1	WXS	Illumina GAIIx	Phase_I	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		3	1212_1213	-			91					B2R7J0|B4DGL6	Frame_Shift_Ins	INS	ENST00000285273.4	37	c.272_273insG	CCDS32684.1																																																																																				0.490	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		13	628						13	628	---	---	---	---
RNF43	54894	broad.mit.edu	37	17	56435160	56435161	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:56435160_56435161insC	ENST00000584437.1	-	8	3931_3932	c.1976_1977insG	c.(1975-1977)ggtfs	p.G659fs	RNF43_ENST00000577625.1_Frame_Shift_Ins_p.G532fs|RNF43_ENST00000577716.1_Frame_Shift_Ins_p.G659fs|RNF43_ENST00000500597.2_Frame_Shift_Ins_p.G618fs|RNF43_ENST00000407977.2_Frame_Shift_Ins_p.G659fs|RNF43_ENST00000581868.1_Frame_Shift_Ins_p.G532fs|RNF43_ENST00000583753.1_Frame_Shift_Ins_p.G618fs|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	659	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCCT	0.599																																						ENST00000584437.1																			1	Deletion - Frameshift(1)	p.G659fs*41(1)	large_intestine(1)	NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(1975-1977)gccfs		ring finger protein 43																																				SO:0001589	frameshift_variant	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56435160_56435161insC		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1977dupG	17.37:g.56435167_56435167dupC	ENSP00000463069:p.Gly659fs		Somatic				RNF43_ENST00000577625.1_Frame_Shift_Ins_p.A532fs|RNF43_ENST00000500597.2_Frame_Shift_Ins_p.A618fs|RNF43_ENST00000577716.1_Frame_Shift_Ins_p.A659fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Frame_Shift_Ins_p.A659fs|RNF43_ENST00000583753.1_Frame_Shift_Ins_p.A618fs|RNF43_ENST00000581868.1_Frame_Shift_Ins_p.A532fs	p.A659fs			WXS	Illumina GAIIx	Phase_I	Q68DV7	RNF43_HUMAN			8	3931_3932	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		659			Pro-rich.		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Frame_Shift_Ins	INS	ENST00000584437.1	37	c.1976_1977insG	CCDS11607.1																																																																																				0.599	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		7	221						7	221	---	---	---	---
MARCH10	162333	broad.mit.edu	37	17	60814265	60814266	+	Frame_Shift_Ins	INS	-	-	C	rs372503255		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:60814265_60814266insC	ENST00000311269.5	-	6	1237_1238	c.963_964insG	c.(961-966)gggacafs	p.T322fs	RP11-156L14.1_ENST00000579201.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000544856.2_Frame_Shift_Ins_p.T321fs|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.T322fs|MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.T360fs|RP11-156L14.1_ENST00000577270.1_RNA	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	322					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGGGTCGATGTCCCCCCAAATC	0.46																																						ENST00000544856.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						c.(958-963)ggcatcfs		membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	162333						ligase activity|zinc ion binding	g.chr17:60814265_60814266insC	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.964dupG	17.37:g.60814271_60814271dupC	ENSP00000311496:p.Thr322fs		Somatic				MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.I360fs|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000311269.5_Frame_Shift_Ins_p.I322fs|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.I322fs	p.I321fs			WXS	Illumina GAIIx	Phase_I	Q8NA82	MARHA_HUMAN			7	1338_1339	-			322					D3DU09|Q8IYS7|Q8N7Z7	Frame_Shift_Ins	INS	ENST00000311269.5	37	c.960_961insG	CCDS11635.1																																																																																				0.460	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		10	823						10	823	---	---	---	---
AXIN2	8313	broad.mit.edu	37	17	63532584	63532585	+	Frame_Shift_Ins	INS	-	-	C	rs267606674		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:63532584_63532585insC	ENST00000375702.5	-	6	1907_1908	c.1799_1800insG	c.(1798-1800)ggcfs	p.G600fs	AXIN2_ENST00000307078.5_Frame_Shift_Ins_p.G665fs			Q9Y2T1	AXIN2_HUMAN	axin 2	640				Missing (in Ref. 2; AAF22799). {ECO:0000305}.	bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GCCCGCTGTTGCCCCCCCACAG	0.658									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													ENST00000307078.5																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34	GRCh37	CI002733	AXIN2	I		c.(1993-1995)gaafs		axin 2																																				SO:0001589	frameshift_variant	8313	Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63532584_63532585insC	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.1800dupG	17.37:g.63532591_63532591dupC	ENSP00000364854:p.Gly600fs		Somatic				AXIN2_ENST00000375702.5_Frame_Shift_Ins_p.E600fs	p.E665fs	NM_004655.3	NP_004646.3	WXS	Illumina GAIIx	Phase_I	Q9Y2T1	AXIN2_HUMAN			8	2307_2308	-			665					Q3MJ88|Q9H3M6|Q9UH84	Frame_Shift_Ins	INS	ENST00000375702.5	37	c.1994_1995insG																																																																																					0.658	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		9	33						9	33	---	---	---	---
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G	rs200065915	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)caafs	p.Q1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCTCTACTTTGGGGGGAAATT	0.376																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(3709-3711)aagfs		ATP-binding cassette, sub-family A (ABC1), member 6																																				SO:0001589	frameshift_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67083603_67083604insG	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.3710dupC	17.37:g.67083609_67083609dupG	ENSP00000284425:p.Gln1237fs		Somatic				ABCA6_ENST00000446604.2_5'UTR	p.K1237fs	NM_080284.2	NP_525023.2	WXS	Illumina GAIIx	Phase_I	Q8N139	ABCA6_HUMAN			29	3883_3884	-	Breast(10;5.65e-12)		1237					Q6NSH9|Q8N856|Q8WWZ6	Frame_Shift_Ins	INS	ENST00000284425.2	37	c.3709_3710insC	CCDS11683.1																																																																																				0.376	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		13	778						13	778	---	---	---	---
CYTH1	9267	broad.mit.edu	37	17	76677055	76677056	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:76677055_76677056insT	ENST00000446868.3	-	12	1030_1031	c.960_961insA	c.(958-963)aaaccafs	p.P321fs	CYTH1_ENST00000586175.1_5'UTR|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000361101.4_Frame_Shift_Ins_p.P321fs|CYTH1_ENST00000589297.1_Frame_Shift_Ins_p.P262fs|CYTH1_ENST00000585509.1_Frame_Shift_Ins_p.P262fs|CYTH1_ENST00000591455.1_Frame_Shift_Ins_p.P320fs			Q15438	CYH1_HUMAN	cytohesin 1	321	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						ATACTCACTGGTTTTTTGGAGT	0.396																																						ENST00000589297.1																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						c.(781-786)aacaaafs		cytohesin 1																																				SO:0001589	frameshift_variant	9267				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr17:76677055_76677056insT	M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"""Pleckstrin homology (PH) domain containing"""	9501	protein-coding gene	gene with protein product		182115	"""pleckstrin homology, Sec7 and coiled-coil domains 1"""	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.961dupA	17.37:g.76677061_76677061dupT	ENSP00000389095:p.Pro321fs		Somatic				CYTH1_ENST00000585509.1_Frame_Shift_Ins_p.NK261fs|CYTH1_ENST00000361101.4_Frame_Shift_Ins_p.NK320fs|CYTH1_ENST00000586175.1_5'UTR|CYTH1_ENST00000446868.3_Frame_Shift_Ins_p.NK320fs|CYTH1_ENST00000591455.1_Frame_Shift_Ins_p.NK319fs|CYTH1_ENST00000589296.1_Intron	p.NK261fs			WXS	Illumina GAIIx	Phase_I	Q15438	CYH1_HUMAN			12	1475_1476	-			320			PH.		A6NFW7|B7Z1T4|Q9P123|Q9P124	Frame_Shift_Ins	INS	ENST00000446868.3	37	c.783_784insA																																																																																					0.396	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317099.1	NM_004762		8	436						8	436	---	---	---	---
SH2D3A	10045	broad.mit.edu	37	19	6755179	6755180	+	Frame_Shift_Ins	INS	-	-	G	rs139813452		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr19:6755179_6755180insG	ENST00000245908.6	-	5	912_913	c.643_644insC	c.(643-645)cggfs	p.R215fs	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Frame_Shift_Ins_p.R93fs	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	215					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGAGGGTGTCCGGGGGGGCTTC	0.653																																						ENST00000245908.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						c.(643-645)gacfs		SH2 domain containing 3A																																				SO:0001589	frameshift_variant	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6755179_6755180insG	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.644dupC	19.37:g.6755186_6755186dupG	ENSP00000245908:p.Arg215fs		Somatic				SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Frame_Shift_Ins_p.D93fs	p.D215fs	NM_005490.2	NP_005481.2	WXS	Illumina GAIIx	Phase_I	Q9BRG2	SH23A_HUMAN			5	912_913	-			215					A8K9R6|B4DRS7|Q9Y2X4	Frame_Shift_Ins	INS	ENST00000245908.6	37	c.643_644insC	CCDS12173.1																																																																																				0.653	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		15	415						15	415	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G	rs558504850	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr19:9064309_9064310insG	ENST00000397910.4	-	3	23339_23340	c.23136_23137insC	c.(23134-23139)ccctctfs	p.S7713fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7715	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGGGGAGAGGGGGGGATAT	0.53																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(23134-23139)ccctccfs		mucin 16, cell surface associated																																				SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9064309_9064310insG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23137dupC	19.37:g.9064316_9064316dupG	ENSP00000381008:p.Ser7713fs		Somatic					p.S7713fs	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			3	23339_23340	-			7715			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	c.23136_23137insC	CCDS54212.1																																																																																				0.530	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	293						7	293	---	---	---	---
OR7D2	162998	broad.mit.edu	37	19	9297034	9297034	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr19:9297034delT	ENST00000344248.2	+	1	756	c.577delT	c.(577-579)ttcfs	p.F193fs		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	193					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CTCTGATACCTTCCTGAACAG	0.418																																						ENST00000344248.2																			0				breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						c.(577-579)tcfs		olfactory receptor, family 7, subfamily D, member 2							185.0	174.0	178.0					19																	9297034		2203	4300	6503	SO:0001589	frameshift_variant	162998				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9297034delT	AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.577delT	19.37:g.9297034delT	ENSP00000345563:p.Phe193fs		Somatic					p.F193fs	NM_175883.2	NP_787079.1	WXS	Illumina GAIIx	Phase_I	Q96RA2	OR7D2_HUMAN			1	756	+			193					Q6IFJ7|Q8N133	Frame_Shift_Del	DEL	ENST00000344248.2	37	c.577delT	CCDS32900.1																																																																																				0.418	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			87	495						87	495	---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10291083	10291084	+	Frame_Shift_Ins	INS	-	-	G	rs369470867		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr19:10291083_10291084insG	ENST00000340748.4	-	4	622_623	c.387_388insC	c.(385-390)cccaaafs	p.K130fs	DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.K130fs|DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.K130fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	130	Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GAAAGGGGTTTGGGGGGGCTGT	0.495																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(385-390)ccaaccfs		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)																																			SO:0001589	frameshift_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10291083_10291084insG	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.388dupC	19.37:g.10291090_10291090dupG	ENSP00000345739:p.Lys130fs		Somatic				DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.T130fs|DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.T130fs	p.T130fs			WXS	Illumina GAIIx	Phase_I	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		4	622_623	-			130			Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Frame_Shift_Ins	INS	ENST00000340748.4	37	c.387_388insC	CCDS12228.1																																																																																				0.495	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		11	208						11	208	---	---	---	---
ZNF878	729747	broad.mit.edu	37	19	12155624	12155625	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr19:12155624_12155625insT	ENST00000547628.1	-	4	728_729	c.591_592insA	c.(589-594)aaacccfs	p.P198fs	CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000602107.1_Frame_Shift_Ins_p.P245fs|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CATTCATAGGGTTTTTTTGCAG	0.396																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(730-735)aacctafs		zinc finger protein 878																																				SO:0001589	frameshift_variant	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155624_12155625insT		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.592dupA	19.37:g.12155631_12155631dupT	ENSP00000447931:p.Pro198fs		Somatic				ZNF878_ENST00000547628.1_Frame_Shift_Ins_p.NL197fs|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA	p.NL244fs			WXS	Illumina GAIIx	Phase_I	C9JN71	ZN878_HUMAN			5	731_732	-			197						Frame_Shift_Ins	INS	ENST00000547628.1	37	c.732_733insA	CCDS45984.2																																																																																				0.396	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		10	369						10	369	---	---	---	---
FXYD7	53822	broad.mit.edu	37	19	35642251	35642251	+	Intron	DEL	G	G	-			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr19:35642251delG	ENST00000270310.2	+	3	220				FXYD7_ENST00000586063.1_Intron|FXYD7_ENST00000588265.1_Frame_Shift_Del_p.L52fs|CTD-2527I21.4_ENST00000592174.1_RNA	NM_022006.1	NP_071289.1	P58549	FXYD7_HUMAN	FXYD domain containing ion transport regulator 7						ion transmembrane transport (GO:0034220)|regulation of ion transport (GO:0043269)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)			NS(1)|endometrium(1)|lung(1)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			ACCCATTCCTGGGCTGCCTCA	0.547																																						ENST00000588265.1																			0				NS(1)|endometrium(1)|lung(1)	3						c.(154-156)ctfs		FXYD domain containing ion transport regulator 7							176.0	147.0	157.0					19																	35642251		2203	4300	6503	SO:0001627	intron_variant	53822					integral to membrane	ion channel activity	g.chr19:35642251delG	AI929519	CCDS12446.1	19q13.1	2008-02-05	2002-01-14			ENSG00000221946			4034	protein-coding gene	gene with protein product		606684	"""FXYD domain-containing ion transport regulator 7"""				Standard	NM_022006		Approved		uc002nye.1	P58549		ENST00000270310.2:c.136+20G>-	19.37:g.35642251delG			Somatic				FXYD7_ENST00000586063.1_Intron|FXYD7_ENST00000270310.2_Intron	p.L52fs			WXS	Illumina GAIIx	Phase_I	P58549	FXYD7_HUMAN	Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)		3	211	+	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		46						Frame_Shift_Del	DEL	ENST00000270310.2	37	c.156delG	CCDS12446.1																																																																																				0.547	FXYD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460657.1	NM_022006		53	212						53	212	---	---	---	---
FAM98C	147965	broad.mit.edu	37	19	38899415	38899416	+	Frame_Shift_Ins	INS	-	-	G	rs551110568|rs559497541|rs375320861		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr19:38899415_38899416insG	ENST00000252530.5	+	8	962_963	c.943_944insG	c.(943-945)cggfs	p.R315fs	FAM98C_ENST00000588262.1_Frame_Shift_Ins_p.PG181fs|FAM98C_ENST00000343358.7_Frame_Shift_Ins_p.R233fs	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	315								p.R315L(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGTTCCAGACCGGGGGGGCCGC	0.564																																						ENST00000252530.5																			1	Substitution - Missense(1)	p.R315L(1)	lung(1)	endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(943-945)gggfs		family with sequence similarity 98, member C																																				SO:0001589	frameshift_variant	147965							g.chr19:38899415_38899416insG		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.950dupG	19.37:g.38899422_38899422dupG	ENSP00000252530:p.Arg315fs		Somatic				FAM98C_ENST00000343358.7_Frame_Shift_Ins_p.G233fs|FAM98C_ENST00000588262.1_Frame_Shift_Ins_p.R181fs	p.G315fs	NM_174905.3	NP_777565.3	WXS	Illumina GAIIx	Phase_I	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		8	962_963	+	all_cancers(60;3.95e-06)		315					A6NMW3|Q66K45	Frame_Shift_Ins	INS	ENST00000252530.5	37	c.943_944insG	CCDS42562.1																																																																																				0.564	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		8	75						8	75	---	---	---	---
FBL	2091	broad.mit.edu	37	19	40325192	40325193	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr19:40325192_40325193insG	ENST00000221801.3	-	9	1064_1065	c.951_952insC	c.(949-954)cccaagfs	p.K318fs	DYRK1B_ENST00000601972.1_5'Flank|DYRK1B_ENST00000593685.1_5'Flank|DYRK1B_ENST00000348817.3_5'Flank|FBL_ENST00000593503.1_5'UTR|DYRK1B_ENST00000430012.2_5'Flank|DYRK1B_ENST00000597639.1_5'Flank|DYRK1B_ENST00000323039.5_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	318					histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TTCTTCACCTTGGGGGGTGGCC	0.505																																						ENST00000221801.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(949-954)ccaggtfs		fibrillarin																																				SO:0001589	frameshift_variant	2091				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding	g.chr19:40325192_40325193insG	AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.952dupC	19.37:g.40325198_40325198dupG	ENSP00000221801:p.Lys318fs		Somatic				FBL_ENST00000593503.1_5'UTR	p.G318fs	NM_001436.3	NP_001427.2	WXS	Illumina GAIIx	Phase_I	P22087	FBRL_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)	9	1064_1065	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	318					B5BUE8|O75259|Q6IAT5|Q9UPI6	Frame_Shift_Ins	INS	ENST00000221801.3	37	c.951_952insC	CCDS12545.1																																																																																				0.505	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		9	429						9	429	---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr19:43439519_43439520insC	ENST00000406070.2	-	0	527				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515																																						ENST00000446844.3																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)																																						5676				female pregnancy	extracellular region		g.chr19:43439519_43439520insC			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439525_43439525dupC			Somatic				PSG7_ENST00000406070.2_RNA				WXS	Illumina GAIIx	Phase_I	Q13046	PSG7_HUMAN			0	520	-		Prostate(69;0.00682)						Q15232	RNA	INS	ENST00000406070.2	37																																																																																						0.515	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		15	641						15	641	---	---	---	---
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr19:48737669_48737670insC	ENST00000359009.4	-	3	378_379	c.66_67insG	c.(64-69)gggacafs	p.T23fs	ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000391898.3_Frame_Shift_Ins_p.D114fs			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	23					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436																																						ENST00000391898.3																			0				endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15						c.(340-342)catfs		caspase recruitment domain family, member 8																																				SO:0001589	frameshift_variant	22900				negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity	g.chr19:48737669_48737670insC	AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.67dupG	19.37:g.48737676_48737676dupC	ENSP00000351901:p.Thr23fs		Somatic				CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000357778.5_5'UTR	p.H114fs	NM_001184900.1	NP_001171829.1	WXS	Illumina GAIIx	Phase_I	Q9Y2G2	CARD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)	3	382_383	-		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)	0					B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Frame_Shift_Ins	INS	ENST00000359009.4	37	c.340_341insG																																																																																					0.436	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014959		12	178						12	178	---	---	---	---
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr19:50243063_50243064insG	ENST00000246801.3	-	11	1830_1831	c.1748_1749insC	c.(1747-1749)ccafs	p.P583fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.P383fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	583					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCCCCTGTTTTGGGGGGGTTCC	0.545																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(1747-1749)caafs		testis-specific serine kinase substrate																																				SO:0001589	frameshift_variant	60385						protein binding	g.chr19:50243063_50243064insG	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1749dupC	19.37:g.50243070_50243070dupG	ENSP00000246801:p.Pro583fs		Somatic				TSKS_ENST00000358830.3_Frame_Shift_Ins_p.Q383fs	p.Q583fs	NM_021733.1	NP_068379.1	WXS	Illumina GAIIx	Phase_I	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	11	1830_1831	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	583					Q8WXJ0	Frame_Shift_Ins	INS	ENST00000246801.3	37	c.1748_1749insC	CCDS12780.1																																																																																				0.545	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		12	288						12	288	---	---	---	---
CNOT3	4849	broad.mit.edu	37	19	54656634	54656635	+	Frame_Shift_Ins	INS	-	-	C	rs202216847		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr19:54656634_54656635insC	ENST00000406403.1	+	15	3538_3539	c.1935_1936insC	c.(1936-1938)cccfs	p.P646fs	CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.P646fs|CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.P465fs|CNOT3_ENST00000496327.1_3'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	646	Pro-rich.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTGTCCGACGCCCCCCTACCA	0.579																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(1933-1938)acccccfs		CCR4-NOT transcription complex, subunit 3																																				SO:0001589	frameshift_variant	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54656634_54656635insC	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.1941dupC	19.37:g.54656640_54656640dupC	ENSP00000383954:p.Pro646fs		Somatic				CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.TP464fs|CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.TP645fs	p.TP645fs			WXS	Illumina GAIIx	Phase_I	O75175	CNOT3_HUMAN			15	3538_3539	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		645			Pro-rich.		Q9NZN7|Q9UF76	Frame_Shift_Ins	INS	ENST00000406403.1	37	c.1935_1936insC	CCDS12880.1																																																																																				0.579	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		7	218						7	218	---	---	---	---
NLRP8	126205	broad.mit.edu	37	19	56487556	56487557	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr19:56487556_56487557insA	ENST00000291971.3	+	8	2834_2835	c.2763_2764insA	c.(2764-2766)aaafs	p.K922fs	NLRP8_ENST00000590542.1_Frame_Shift_Ins_p.K903fs	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	922					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTGCGCTCTGTAAAAATAAAAC	0.411																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(2761-2766)tgaaaafs		NLR family, pyrin domain containing 8																																				SO:0001589	frameshift_variant	126205					cytoplasm	ATP binding	g.chr19:56487556_56487557insA	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2768dupA	19.37:g.56487561_56487561dupA	ENSP00000291971:p.Lys922fs		Somatic				NLRP8_ENST00000590542.1_Frame_Shift_Ins_p.*K902fs	p.*K921fs	NM_176811.2	NP_789781.2	WXS	Illumina GAIIx	Phase_I	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	8	2834_2835	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	921					Q7RTR4	Frame_Shift_Ins	INS	ENST00000291971.3	37	c.2763_2764insA	CCDS12937.1																																																																																				0.411	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		34	146						34	146	---	---	---	---
NRSN2	80023	broad.mit.edu	37	20	333922	333923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr20:333922_333923insC	ENST00000382291.3	+	4	498_499	c.258_259insC	c.(259-261)cccfs	p.P87fs	NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.P87fs|NRSN2_ENST00000608736.1_Intron|NRSN2_ENST00000492242.1_3'UTR	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	87						integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				GCTATGCAGTGCCCCCCAAGCT	0.644																																						ENST00000382291.3																			0				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8						c.(256-261)gtccccfs		neurensin 2																																				SO:0001589	frameshift_variant	80023					integral to membrane|plasma membrane|transport vesicle		g.chr20:333922_333923insC	AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"""chromosome 20 open reading frame 98"""	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.264dupC	20.37:g.333928_333928dupC	ENSP00000371728:p.Pro87fs		Somatic				NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.VP86fs	p.VP86fs	NM_024958.2	NP_079234.1	WXS	Illumina GAIIx	Phase_I	Q9GZP1	NRSN2_HUMAN			4	498_499	+		all_cancers(10;0.0834)	86					A8K3B2|Q6FII5|Q9NUD3	Frame_Shift_Ins	INS	ENST00000382291.3	37	c.258_259insC	CCDS12996.1																																																																																				0.644	NRSN2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077446.1	NM_024958		7	328						7	328	---	---	---	---
FERMT1	55612	broad.mit.edu	37	20	6091014	6091015	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr20:6091014_6091015insG	ENST00000217289.4	-	5	1464_1465	c.676_677insC	c.(676-678)cagfs	p.Q226fs	FERMT1_ENST00000536936.1_Intron	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	226	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TTCTGGGGACTGGGGGGGTTGG	0.53																																						ENST00000217289.4																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17	GRCh37	CI040351	FERMT1	I		c.(676-678)gtcfs		fermitin family member 1				5,4259		0,5,2127						-3.2	0.0			133	4,8250		0,4,4123	no	frameshift	FERMT1	NM_017671.4		0,9,6250	A1A1,A1R,RR		0.0485,0.1173,0.0719				9,12509				SO:0001589	frameshift_variant	55612				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	g.chr20:6091014_6091015insG	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.677dupC	20.37:g.6091021_6091021dupG	ENSP00000217289:p.Gln226fs		Somatic				FERMT1_ENST00000536936.1_Intron	p.V226fs	NM_017671.4	NP_060141.3	WXS	Illumina GAIIx	Phase_I	Q9BQL6	FERM1_HUMAN			5	1464_1465	-			226			FERM.		D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Frame_Shift_Ins	INS	ENST00000217289.4	37	c.676_677insC	CCDS13098.1																																																																																				0.530	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671		8	205						8	205	---	---	---	---
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr20:23667825_23667826insC	ENST00000217423.3	-	2	311_312	c.241_242insG	c.(241-243)gtgfs	p.V81fs		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	81					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAAGTAATTCACCCCCCCAAAG	0.554																																						ENST00000217423.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16						c.(241-243)gaafs		cystatin S																																				SO:0001589	frameshift_variant	1472					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23667825_23667826insC		CCDS13159.1	20p11.2	2008-04-15			ENSG00000101441	ENSG00000101441			2476	protein-coding gene	gene with protein product		123857				1801729	Standard	NM_001899		Approved		uc002wto.1	P01036	OTTHUMG00000032083	ENST00000217423.3:c.242dupG	20.37:g.23667832_23667832dupC	ENSP00000217423:p.Val81fs		Somatic					p.E81fs	NM_001899.2	NP_001890.1	WXS	Illumina GAIIx	Phase_I	P01036	CYTS_HUMAN			2	311_312	-	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)		81					Q9UBI5|Q9UCS9	Frame_Shift_Ins	INS	ENST00000217423.3	37	c.241_242insG	CCDS13159.1																																																																																				0.554	CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078349.2	NM_001899		19	239						19	239	---	---	---	---
CST1	1469	broad.mit.edu	37	20	23729753	23729754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr20:23729753_23729754insC	ENST00000304749.2	-	2	311_312	c.241_242insG	c.(241-243)gtgfs	p.V81fs	CST1_ENST00000398402.1_Frame_Shift_Ins_p.V81fs	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	81					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					GAAGTAATTCACCCCCCCAACG	0.554																																						ENST00000304749.2																			0				kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(241-243)gaafs		cystatin SN																																				SO:0001589	frameshift_variant	1469					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23729753_23729754insC	M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.242dupG	20.37:g.23729760_23729760dupC	ENSP00000305731:p.Val81fs		Somatic				CST1_ENST00000398402.1_Frame_Shift_Ins_p.E81fs	p.E81fs	NM_001898.2	NP_001889.2	WXS	Illumina GAIIx	Phase_I	P01037	CYTN_HUMAN			2	311_312	-	Lung NSC(19;0.0676)|all_lung(19;0.148)		81					Q96LE6|Q9UCQ6	Frame_Shift_Ins	INS	ENST00000304749.2	37	c.241_242insG	CCDS13160.1																																																																																				0.554	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078351.2	NM_001898		17	212						17	212	---	---	---	---
TM9SF4	9777	broad.mit.edu	37	20	30737490	30737491	+	Frame_Shift_Ins	INS	-	-	C	rs199845790		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr20:30737490_30737491insC	ENST00000398022.2	+	10	1243_1244	c.1008_1009insC	c.(1009-1011)cccfs	p.P337fs	TM9SF4_ENST00000217315.5_Frame_Shift_Ins_p.P320fs	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	337						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACGTCTTCAGGCCCCCCCAGTA	0.604																																						ENST00000217315.5																			0				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(955-960)agccccfs		transmembrane 9 superfamily protein member 4																																				SO:0001589	frameshift_variant	9777					integral to membrane		g.chr20:30737490_30737491insC	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1015dupC	20.37:g.30737497_30737497dupC	ENSP00000381104:p.Pro337fs		Somatic				TM9SF4_ENST00000398022.2_Frame_Shift_Ins_p.SP336fs	p.SP319fs			WXS	Illumina GAIIx	Phase_I	Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		10	1297_1298	+			336					B0QYT7|Q9NUA3	Frame_Shift_Ins	INS	ENST00000398022.2	37	c.957_958insC	CCDS13196.2																																																																																				0.604	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		7	78						7	78	---	---	---	---
PLCG1	5335	broad.mit.edu	37	20	39798133	39798134	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr20:39798133_39798134insG	ENST00000373271.1	+	23	3022_3023	c.2617_2618insG	c.(2617-2619)cggfs	p.R873fs	PLCG1_ENST00000373272.2_Frame_Shift_Ins_p.R873fs|PLCG1_ENST00000244007.3_Frame_Shift_Ins_p.R873fs	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	873					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)	p.R873Q(1)		breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GGACTTGCTGCGGGGGGTCTTG	0.54																																						ENST00000373272.2																			1	Substitution - Missense(1)	p.R873Q(1)	large_intestine(1)	breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46						c.(2617-2619)gggfs		phospholipase C, gamma 1																																				SO:0001589	frameshift_variant	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39798133_39798134insG	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.2623dupG	20.37:g.39798139_39798139dupG	ENSP00000362368:p.Arg873fs		Somatic				PLCG1_ENST00000373271.1_Frame_Shift_Ins_p.G873fs|PLCG1_ENST00000244007.3_Frame_Shift_Ins_p.G873fs	p.G873fs	NM_002660.2	NP_002651.2	WXS	Illumina GAIIx	Phase_I	P19174	PLCG1_HUMAN			23	3022_3023	+		Myeloproliferative disorder(115;0.00878)	873					B7ZLY7|B9EGH4|E1P5W4|Q2V575	Frame_Shift_Ins	INS	ENST00000373271.1	37	c.2617_2618insG	CCDS13314.1																																																																																				0.540	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		9	213						9	213	---	---	---	---
LPIN3	64900	broad.mit.edu	37	20	39977798	39977799	+	Frame_Shift_Ins	INS	-	-	C	rs554789813|rs559175371	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr20:39977798_39977799insC	ENST00000373257.3	+	5	715_716	c.624_625insC	c.(625-627)cccfs	p.P209fs		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	209					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				ATGGCGAGTGGCCCCCCCAGGC	0.54																																						ENST00000373257.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(622-627)tgccccfs		lipin 3																																				SO:0001589	frameshift_variant	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39977798_39977799insC	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.631dupC	20.37:g.39977805_39977805dupC	ENSP00000362354:p.Pro209fs		Somatic					p.CP208fs	NM_022896.1	NP_075047.1	WXS	Illumina GAIIx	Phase_I	Q9BQK8	LPIN3_HUMAN			5	715_716	+		Myeloproliferative disorder(115;0.000739)	208					B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Frame_Shift_Ins	INS	ENST00000373257.3	37	c.624_625insC	CCDS33469.1																																																																																				0.540	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		13	129						13	129	---	---	---	---
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr20:47989771_47989772insG	ENST00000371741.4	-	2	2491_2492	c.2325_2326insC	c.(2323-2328)cccaaafs	p.K776fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	776					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	GGGAGGCTTTTGGGGGGGCTGG	0.545																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(2323-2328)ccaaagfs		potassium voltage-gated channel, Shab-related subfamily, member 1																																				SO:0001589	frameshift_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47989771_47989772insG	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2326dupC	20.37:g.47989778_47989778dupG	ENSP00000360806:p.Lys776fs		Somatic					p.PK775fs	NM_004975.2	NP_004966.1	WXS	Illumina GAIIx	Phase_I	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2491_2492	-			775					Q14193	Frame_Shift_Ins	INS	ENST00000371741.4	37	c.2325_2326insC	CCDS13418.1																																																																																				0.545	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		34	688						34	688	---	---	---	---
GNAS	2778	broad.mit.edu	37	20	57478756	57478757	+	Frame_Shift_Ins	INS	-	-	C	rs375410323		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr20:57478756_57478757insC	ENST00000371085.3	+	5	766_767	c.342_343insC	c.(343-345)cccfs	p.P115fs	GNAS_ENST00000306090.10_Frame_Shift_Ins_p.P101fs|GNAS_ENST00000371102.4_Frame_Shift_Ins_p.P744fs|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000354359.7_Frame_Shift_Ins_p.P116fs|GNAS_ENST00000371100.4_Frame_Shift_Ins_p.P758fs|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371095.3_Frame_Shift_Ins_p.P101fs|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Frame_Shift_Ins_p.P100fs	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	115			P -> L (in AHO). {ECO:0000269|PubMed:11600516}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.V760fs*23(1)|p.V117fs*23(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCAACCTGGTGCCCCCCGTGGA	0.559			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		2	Insertion - Frameshift(2)	p.V760fs*23(1)|p.V117fs*23(1)	haematopoietic_and_lymphoid_tissue(2)	adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	GRCh37	CM980947	GNAS	M		c.(2269-2274)gtccccfs		GNAS complex locus																																				SO:0001589	frameshift_variant	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57478756_57478757insC	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.348dupC	20.37:g.57478762_57478762dupC	ENSP00000360126:p.Pro115fs	TSP Lung(22;0.16)	Somatic				GNAS_ENST00000306090.10_Frame_Shift_Ins_p.VP100fs|GNAS_ENST00000371095.3_Frame_Shift_Ins_p.VP100fs|GNAS_ENST00000371085.3_Frame_Shift_Ins_p.VP114fs|GNAS_ENST00000371102.4_Frame_Shift_Ins_p.VP743fs|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000354359.7_Frame_Shift_Ins_p.VP115fs|GNAS_ENST00000265620.7_Frame_Shift_Ins_p.VP99fs	p.VP757fs	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	WXS	Illumina GAIIx	Phase_I	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		5	2823_2824	+	all_lung(29;0.0104)		114					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Frame_Shift_Ins	INS	ENST00000371085.3	37	c.2271_2272insC	CCDS13472.1																																																																																				0.559	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		8	204						8	204	---	---	---	---
MIR646HG	284757	broad.mit.edu	37	20	58889651	58889662	+	lincRNA	DEL	CATTCTCCCATT	CATTCTCCCATT	-	rs374603250|rs111212420|rs117834183		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr20:58889651_58889662delCATTCTCCCATT	ENST00000432910.1	+	0	332					NR_046099.1																						tccatccatccattctcccattcatccatcct	0.538																																						ENST00000432910.1																			0																																																			284757							g.chr20:58889651_58889662delCATTCTCCCATT																													20.37:g.58889651_58889662delCATTCTCCCATT			Somatic						NR_046099.1		WXS	Illumina GAIIx	Phase_I					0	332	+									RNA	DEL	ENST00000432910.1	37																																																																																						0.538	RP5-1043L13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000079947.1			2	4						2	4	---	---	---	---
OSBPL2	9885	broad.mit.edu	37	20	60854257	60854258	+	Frame_Shift_Ins	INS	-	-	C	rs79735057		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr20:60854257_60854258insC	ENST00000313733.3	+	7	738_739	c.536_537insC	c.(535-540)caccccfs	p.HP179fs	OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.HP87fs|OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.HP167fs	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	179					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GTCAGTCACCACCCCCCCATCA	0.465																																						ENST00000313733.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(535-537)cccfs		oxysterol binding protein-like 2			,	18,4246		0,18,2114					,	4.9	1.0			111	7,8247		0,7,4120	no	frameshift,frameshift	OSBPL2	NM_144498.1,NM_014835.2	,	0,25,6234	A1A1,A1R,RR		0.0848,0.4221,0.1997	,	,		25,12493				SO:0001589	frameshift_variant	9885				lipid transport		lipid binding	g.chr20:60854257_60854258insC	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.543dupC	20.37:g.60854264_60854264dupC	ENSP00000316649:p.His179fs		Somatic				OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.P167fs|OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.P87fs	p.P179fs	NM_144498.1	NP_653081.1	WXS	Illumina GAIIx	Phase_I	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		7	738_739	+	Breast(26;7.76e-09)		179					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Frame_Shift_Ins	INS	ENST00000313733.3	37	c.536_537insC	CCDS13495.1																																																																																				0.465	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		11	173						11	173	---	---	---	---
P2RX6P	440799	broad.mit.edu	37	22	21399220	21399221	+	5'Flank	INS	-	-	C	rs529641856|rs548950945	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr22:21399220_21399221insC	ENST00000342608.4	+	0	0				AC002472.13_ENST00000543388.1_5'Flank|AC002472.11_ENST00000450652.1_RNA|P2RX6P_ENST00000439119.1_RNA																lung(2)	2						TCTGCAGGGCGCCCCCCCACCA	0.599																																						ENST00000439119.1																			0																																																	SO:0001631	upstream_gene_variant	440799							g.chr22:21399220_21399221insC																													22.37:g.21399227_21399227dupC	Exception_encountered		Somatic						NR_002829.1		WXS	Illumina GAIIx	Phase_I					0	51	-									RNA	INS	ENST00000342608.4	37																																																																																						0.599	AC002472.13-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				18	181						18	181	---	---	---	---
SREBF2	6721	broad.mit.edu	37	22	42271636	42271637	+	Frame_Shift_Ins	INS	-	-	C	rs79727196		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr22:42271636_42271637insC	ENST00000361204.4	+	7	1460_1461	c.1294_1295insC	c.(1294-1296)tccfs	p.S432fs		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	432	Interaction with LMNA. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCTTCTGATGTCCCCCCCAGCC	0.52																																						ENST00000361204.4																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(1294-1296)cccfs		sterol regulatory element binding transcription factor 2																																				SO:0001589	frameshift_variant	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42271636_42271637insC	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.1301dupC	22.37:g.42271643_42271643dupC	ENSP00000354476:p.Ser432fs		Somatic					p.P432fs	NM_004599.2	NP_004590.2	WXS	Illumina GAIIx	Phase_I	Q12772	SRBP2_HUMAN			7	1460_1461	+			432			Interaction with LMNA (By similarity).		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Frame_Shift_Ins	INS	ENST00000361204.4	37	c.1294_1295insC	CCDS14023.1																																																																																				0.520	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		8	214						8	214	---	---	---	---
TBC1D22A	25771	broad.mit.edu	37	22	47188443	47188444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr22:47188443_47188444insC	ENST00000337137.4	+	2	255_256	c.89_90insC	c.(88-93)caccccfs	p.HP30fs	TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.HP30fs|TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000355704.3_Intron	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	30							protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGTGCCCAGCACCCCCCCTTTG	0.569																																						ENST00000337137.4																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22						c.(88-90)cccfs		TBC1 domain family, member 22A																																				SO:0001589	frameshift_variant	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47188443_47188444insC	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.96dupC	22.37:g.47188450_47188450dupC	ENSP00000336724:p.His30fs		Somatic				TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs|TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000406733.1_5'UTR	p.P30fs	NM_014346.2	NP_055161.1	WXS	Illumina GAIIx	Phase_I	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	2	255_256	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	30					B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Frame_Shift_Ins	INS	ENST00000337137.4	37	c.89_90insC	CCDS14078.1																																																																																				0.569	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		12	191						12	191	---	---	---	---
SHROOM4	57477	broad.mit.edu	37	X	50350711	50350713	+	In_Frame_Del	DEL	TCC	TCC	-	rs6614551		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chrX:50350711_50350713delTCC	ENST00000289292.7	-	6	3712_3714	c.3429_3431delGGA	c.(3427-3432)gaggaa>gaa	p.1143_1144EE>E	SHROOM4_ENST00000376020.2_In_Frame_Del_p.1143_1144EE>E|SHROOM4_ENST00000460112.3_In_Frame_Del_p.1027_1028EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1143	Glu-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcttcctcttcctcttcttctt	0.547																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3427-3432)gaa>ga		shroom family member 4																																				SO:0001651	inframe_deletion	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350711_50350713delTCC	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3429_3431delGGA	X.37:g.50350711_50350713delTCC	ENSP00000289292:p.Glu1151del		Somatic				SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del|SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del	p.EE1149del	NM_020717.3	NP_065768.2	WXS	Illumina GAIIx	Phase_I	Q9ULL8	SHRM4_HUMAN			6	3454_3456	-	Ovarian(276;0.236)		1149			Glu-rich.		A7E2X9|D6RFW0|Q96LA0	In_Frame_Del	DEL	ENST00000289292.7	37	c.3429_3431delGGA	CCDS35277.1																																																																																				0.547	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		8	25						8	25	---	---	---	---
IL2RG	3561	broad.mit.edu	37	X	70327613	70327614	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chrX:70327613_70327614insG	ENST00000374202.2	-	8	1173_1174	c.1082_1083insC	c.(1081-1083)ccafs	p.P361fs	IL2RG_ENST00000456850.2_Frame_Shift_Ins_p.P171fs|CXorf65_ENST00000374251.5_5'Flank|IL2RG_ENST00000374188.3_Frame_Shift_Ins_p.P90fs	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	361					immune response (GO:0006955)|interleukin-2-mediated signaling pathway (GO:0038110)|interleukin-4-mediated signaling pathway (GO:0035771)|interleukin-7-mediated signaling pathway (GO:0038111)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|interleukin-2 binding (GO:0019976)			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GGGTGTAACATGGGGGGGCCCA	0.584									Severe Combined Immunodeficiency, X-linked																													ENST00000374202.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15						c.(1081-1083)ctgfs		interleukin 2 receptor, gamma	Aldesleukin(DB00041)|Denileukin diftitox(DB00004)																																			SO:0001589	frameshift_variant	3561	Severe Combined Immunodeficiency, X-linked	Familial Cancer Database	Agammaglobulinemia, Swiss Type	immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding	g.chrX:70327613_70327614insG	D11086	CCDS14406.1	Xq13	2014-09-17	2010-06-24		ENSG00000147168	ENSG00000147168		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6010	protein-coding gene	gene with protein product		308380	"""severe combined immunodeficiency"", ""combined immunodeficiency, X-linked"""	SCIDX1, IMD4, CIDX		1631559, 7883965	Standard	NM_000206		Approved	CD132	uc004dyw.2	P31785	OTTHUMG00000021787	ENST00000374202.2:c.1083dupC	X.37:g.70327620_70327620dupG	ENSP00000363318:p.Pro361fs		Somatic				IL2RG_ENST00000456850.2_Frame_Shift_Ins_p.L171fs|IL2RG_ENST00000374188.3_Frame_Shift_Ins_p.L90fs	p.L361fs	NM_000206.2	NP_000197.1	WXS	Illumina GAIIx	Phase_I	P31785	IL2RG_HUMAN			8	1173_1174	-	Renal(35;0.156)		361					Q5FC12	Frame_Shift_Ins	INS	ENST00000374202.2	37	c.1082_1083insC	CCDS14406.1																																																																																				0.584	IL2RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057102.2			7	77						7	77	---	---	---	---
KIAA2022	340533	broad.mit.edu	37	X	73963268	73963269	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chrX:73963268_73963269insC	ENST00000055682.6	-	3	1734_1735	c.1123_1124insG	c.(1123-1125)gagfs	p.E375fs		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	375					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTATCTTCCTCCCCCCAGATG	0.475																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(1123-1125)ggafs		KIAA2022																																				SO:0001589	frameshift_variant	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73963268_73963269insC		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1124dupG	X.37:g.73963274_73963274dupC	ENSP00000055682:p.Glu375fs		Somatic				KIAA2022_ENST00000055682.5_Frame_Shift_Ins_p.G375fs	p.G375fs			WXS	Illumina GAIIx	Phase_I	Q5QGS0	K2022_HUMAN			3	1774_1775	-			375					A7YY87|Q5JUX9|Q8IVE9	Frame_Shift_Ins	INS	ENST00000055682.6	37	c.1123_1124insG	CCDS35337.1																																																																																				0.475	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		8	319						8	319	---	---	---	---
ZCCHC12	170261	broad.mit.edu	37	X	117960135	117960136	+	Frame_Shift_Ins	INS	-	-	C	rs186832346		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chrX:117960135_117960136insC	ENST00000310164.2	+	4	1435_1436	c.928_929insC	c.(928-930)tccfs	p.S310fs		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	310					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GGTCATTGATTCCCCCCACAAT	0.564																																						ENST00000310164.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						c.(928-930)cccfs		zinc finger, CCHC domain containing 12																																				SO:0001589	frameshift_variant	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117960135_117960136insC	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.934dupC	X.37:g.117960141_117960141dupC	ENSP00000308921:p.Ser310fs		Somatic					p.P310fs	NM_173798.2	NP_776159.1	WXS	Illumina GAIIx	Phase_I	Q6PEW1	ZCH12_HUMAN			4	1435_1436	+			310					B3KV48|Q6PID5|Q8N1C1	Frame_Shift_Ins	INS	ENST00000310164.2	37	c.928_929insC	CCDS14574.1																																																																																				0.564	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		7	232						7	232	---	---	---	---
