#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CHIAP2	149620	broad.mit.edu	37	1	111824378	111824378	+	RNA	SNP	A	A	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:111824378A>C	ENST00000369743.4	+	0	262					NR_003928.1				chitinase, acidic pseudogene 2																		AAAACAAGTAAATGACGGAAA	0.418																																						ENST00000369743.4																			0																																																			0							g.chr1:111824378A>C			1p13.2	2012-10-11			ENSG00000203878	ENSG00000203878			44463	pseudogene	pseudogene							Standard	NR_003928		Approved		uc009wgb.3		OTTHUMG00000012173		1.37:g.111824378A>C								NR_003928.1						0	262	+									RNA	SNP	ENST00000369743.4	37																																																																																						0.418	CHIAP2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000033667.3			70	139	0	0	0	1	0	70	139				
IFNL2	282616	broad.mit.edu	37	19	39760163	39760163	+	Silent	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:39760163G>A	ENST00000331982.5	+	4	361	c.306G>A	c.(304-306)ctG>ctA	p.L102L		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	102					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											AGGCTGAGCTGGCCCTGACGC	0.632																																						ENST00000331982.5																			0											c.(304-306)ctG>ctA		interferon, lambda 2							41.0	46.0	44.0					19																	39760163		2203	4300	6503	SO:0001819	synonymous_variant	282616							g.chr19:39760163G>A	AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"""Interferons"""	18364	protein-coding gene	gene with protein product		607401	"""interleukin 28A"", ""interleukin 28A (interferon, lambda 2)"""	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.306G>A	19.37:g.39760163G>A							p.L102L	NM_172138.1	NP_742150.1					4	361	+								Q45KQ8|Q6VN55|Q8IWL7	Silent	SNP	ENST00000331982.5	37	c.306G>A	CCDS42567.1																																																																																				0.632	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463833.1	NM_172138		203	229	0	0	0	1	0	203	229				
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50.0	48.0	49.0					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		7	213	0	0	0	1	0	7	213				
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	40								p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I40T(4)	prostate(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(118-120)aTc>aCc																																						SO:0001583	missense	0							g.chr20:29625875T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.119T>C	20.37:g.29625875T>C	ENSP00000278882:p.Ile40Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T	p.I40T							5	499	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.119T>C		.	.	.	.	.	.	.	.	.	.	t	10.51	1.369778	0.24771	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.51071	0.72	1.68	1.68	0.24146	.	0.052751	0.64402	D	0.000001	T	0.59865	0.2225	.	.	.	0.51482	D	0.999924	P	0.49862	0.929	D	0.64687	0.928	T	0.59386	-0.7464	9	0.52906	T	0.07	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	45	F5H5R5	.	T	40;45;40	ENSP00000408863:I45T	ENSP00000278882:I40T	I	+	2	0	FRG1B	28239536	1.000000	0.71417	0.982000	0.44146	0.025000	0.11179	6.565000	0.73974	1.028000	0.39785	0.155000	0.16302	ATC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		14	448	0	0	0	1	0	14	448				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			0							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			9	338	0	0	0	1	0	9	338				
LOC645752	645752	broad.mit.edu	37	15	78213760	78213760	+	lincRNA	SNP	C	C	T	rs4886968	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr15:78213760C>T	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							GTATTGCAGGCGGCCAGCCAG	0.542													c|||	707	0.141174	0.0938	0.17	5008	,	,		19352	0.1101		0.2406	False		,,,				2504	0.1145					ENST00000565869.1																			0																																																			0							g.chr15:78213760C>T																													15.37:g.78213760C>T						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.542	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			8	261	0	0	0	1	0	8	261				
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657																																						ENST00000391413.2																			1	Substitution - Missense(1)	p.L161V(1)	prostate(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(481-483)Ctg>Gtg		keratin associated protein 4-11							17.0	21.0	20.0					17																	39274087		692	1589	2281	SO:0001583	missense	653240					keratin filament		g.chr17:39274087G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.481C>G	17.37:g.39274087G>C	ENSP00000375232:p.Leu161Val						p.L161V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	519	-		Breast(137;0.000496)	161			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.481C>G	CCDS45675.1	249	0.11401098901098901	67	0.13617886178861788	40	0.11049723756906077	104	0.18181818181818182	38	0.05013192612137203	.	1.347	-0.592411	0.03799	.	.	ENSG00000212721	ENST00000391413	T	0.00614	6.21	4.35	0.986	0.19784	.	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B	0.30068	0.267	B	0.18871	0.023	T	0.19063	-1.0317	8	0.11794	T	0.64	.	5.8913	0.18915	0.1751:0.0:0.6569:0.168	.	161	Q9BYQ6	KR411_HUMAN	V	161	ENSP00000375232:L161V	ENSP00000375232:L161V	L	-	1	2	KRTAP4-11	36527613	0.671000	0.27521	0.912000	0.35992	0.970000	0.65996	0.971000	0.29396	0.348000	0.23949	0.609000	0.83330	CTG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			7	117	0	0	0	1	0	7	117				
ALDH1L1	10840	broad.mit.edu	37	3	125876347	125876347	+	Missense_Mutation	SNP	G	G	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:125876347G>C	ENST00000393434.2	-	4	716	c.367C>G	c.(367-369)Ctc>Gtc	p.L123V	ALDH1L1_ENST00000393431.2_Missense_Mutation_p.L123V|U1_ENST00000606575.1_RNA|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.L133V|ALDH1L1_ENST00000413612.1_5'Flank|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.L123V|ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000452905.2_Intron	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	123	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCGTGAATGAGGGTCCTAGGA	0.597																																						ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(367-369)Ctc>Gtc		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						85.0	88.0	87.0					3																	125876347		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125876347G>C	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.367C>G	3.37:g.125876347G>C	ENSP00000377083:p.Leu123Val					ALDH1L1_ENST00000472186.1_Missense_Mutation_p.L123V|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.L133V|ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.L123V	p.L123V	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	4	716	-			123			GART.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.367C>G	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953044	0.73902	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000393434;ENST00000393431;ENST00000490367;ENST00000460368;ENST00000488356	T;T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	4.39	4.39	0.52855	Formyl transferase, N-terminal (3);	0.000000	0.64402	D	0.000002	D	0.86289	0.5897	L	0.55481	1.735	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.68353	0.957;0.951;0.957	D	0.87817	0.2635	10	0.87932	D	0	.	14.4889	0.67637	0.0:0.0:1.0:0.0	.	175;30;123	Q59G10;Q9UFA9;O75891	.;.;AL1L1_HUMAN	V	133;123;123;123;123;123;123	ENSP00000273450:L133V;ENSP00000420293:L123V;ENSP00000377083:L123V;ENSP00000377081:L123V;ENSP00000418711:L123V;ENSP00000419826:L123V;ENSP00000419955:L123V	ENSP00000273450:L133V	L	-	1	0	ALDH1L1	127359037	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	5.858000	0.69532	2.277000	0.76020	0.467000	0.42956	CTC		0.597	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		112	402	0	0	0	1	0	112	402				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	T	C	rs189343211		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr17:39240627T>C	ENST00000391417.4	+	1	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	57	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S57P(4)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667																																						ENST00000391417.4																			4	Substitution - Missense(4)	p.S57P(4)	urinary_tract(2)|kidney(2)	NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(169-171)Tct>Cct		keratin associated protein 4-7							18.0	28.0	25.0					17																	39240627		691	1590	2281	SO:0001583	missense	100132476							g.chr17:39240627T>C	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.169T>C	17.37:g.39240627T>C	ENSP00000375236:p.Ser57Pro						p.S57P	NM_033061.3	NP_149050.3					1	169	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.169T>C	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	0.387	-0.925721	0.02377	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.01272	5.07	3.6	-0.386	0.12466	.	1.254490	0.05892	N	0.628448	T	0.00695	0.0023	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.43572	-0.9383	9	0.02654	T	1	.	4.4551	0.11639	0.0:0.4346:0.1731:0.3923	.	57	Q9BYR0	KRA47_HUMAN	P	57	ENSP00000375236:S57P	ENSP00000375236:S57P	S	+	1	0	KRTAP4-9;KRTAP4-7	36494153	0.000000	0.05858	0.033000	0.17914	0.157000	0.22087	-0.806000	0.04525	0.004000	0.14682	0.374000	0.22700	TCT		0.667	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			14	330	0	0	0	1	0	14	330				
PSME4	23198	broad.mit.edu	37	2	54133986	54133986	+	Missense_Mutation	SNP	T	T	C	rs183190432		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:54133986T>C	ENST00000404125.1	-	25	2859	c.2804A>G	c.(2803-2805)cAt>cGt	p.H935R	PSME4_ENST00000421748.2_Missense_Mutation_p.H79R	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	935					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGCTCTGATATGTTGTTTTTT	0.323													T|||	1	0.000199681	0.0	0.0014	5008	,	,		20091	0.0		0.0	False		,,,				2504	0.0					ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(2803-2805)cAt>cGt		proteasome (prosome, macropain) activator subunit 4							68.0	67.0	67.0					2																	54133986		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54133986T>C	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.2804A>G	2.37:g.54133986T>C	ENSP00000384211:p.His935Arg					PSME4_ENST00000421748.2_Missense_Mutation_p.H79R	p.H935R	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		25	2859	-			935					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.2804A>G	CCDS33197.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	15.37	2.813146	0.50527	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.10960	2.82;2.82	5.45	5.45	0.79879	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.25306	0.0615	L	0.46947	1.48	0.80722	D	1	P;D;B	0.89917	0.669;1.0;0.287	B;D;B	0.74674	0.122;0.984;0.057	T	0.01266	-1.1401	10	0.25106	T	0.35	.	15.8205	0.78638	0.0:0.0:0.0:1.0	.	310;79;935	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	R	79;935	ENSP00000410830:H79R;ENSP00000384211:H935R	ENSP00000384211:H935R	H	-	2	0	PSME4	53987490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.201000	0.70794	0.533000	0.62120	CAT		0.323	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		63	153	0	0	0	1	0	63	153				
ZNF629	23361	broad.mit.edu	37	16	30793072	30793072	+	Silent	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr16:30793072G>A	ENST00000262525.4	-	3	2784	c.2577C>T	c.(2575-2577)ctC>ctT	p.L859L	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	859					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AGCTCCTATGGAGCAGGAGGG	0.572																																						ENST00000262525.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(2575-2577)ctC>ctT		zinc finger protein 629							33.0	36.0	35.0					16																	30793072		1841	4100	5941	SO:0001819	synonymous_variant	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30793072G>A	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.2577C>T	16.37:g.30793072G>A							p.L859L	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	2784	-			859					Q15938	Silent	SNP	ENST00000262525.4	37	c.2577C>T	CCDS45463.1																																																																																				0.572	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		99	198	0	0	0	1	0	99	198				
CROCCP2	84809	broad.mit.edu	37	1	16946437	16946437	+	lincRNA	SNP	C	C	T	rs2262202	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:16946437C>T	ENST00000412962.1	-	0	1082				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCCTTCCGCCGGGCCAGCAG	0.672													.|||	800	0.159744	0.1067	0.1571	5008	,	,		61077	0.2659		0.1511	False		,,,				2504	0.1329					ENST00000412962.1																			0																																																			0							g.chr1:16946437C>T	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.16946437C>T														0	1082	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		21	193	0	0	0	1	0	21	193				
SMG1	23049	broad.mit.edu	37	16	18887699	18887699	+	Missense_Mutation	SNP	T	T	C	rs376234691		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr16:18887699T>C	ENST00000446231.2	-	13	2049	c.1637A>G	c.(1636-1638)cAt>cGt	p.H546R	SMG1_ENST00000389467.3_Missense_Mutation_p.H546R|SMG1_ENST00000565224.1_Missense_Mutation_p.H520R			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	546	Interaction with SMG8 and SMG9.		H -> R. {ECO:0000269|PubMed:17344846}.		DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.H542R(2)|p.H546R(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATAAACAGCATGGGCTACAGC	0.333																																						ENST00000446231.2																			3	Substitution - Missense(3)	p.H542R(2)|p.H546R(1)	kidney(2)|skin(1)	NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(1636-1638)cAt>cGt		SMG1 phosphatidylinositol 3-kinase-related kinase							16.0	14.0	14.0					16																	18887699		1793	4006	5799	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18887699T>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.1637A>G	16.37:g.18887699T>C	ENSP00000402515:p.His546Arg					SMG1_ENST00000565224.1_Missense_Mutation_p.H520R|SMG1_ENST00000389467.3_Missense_Mutation_p.H546R	p.H546R			Q96Q15	SMG1_HUMAN			13	2049	-			546		H -> R.	Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.1637A>G	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	T	14.49	2.550408	0.45383	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01076	5.37;5.37	5.49	5.49	0.81192	Armadillo-type fold (1);	0.000000	0.64402	U	0.000003	T	0.01124	0.0037	N	0.24115	0.695	0.38158	D	0.938958	B	0.26445	0.149	B	0.24541	0.054	T	0.66618	-0.5878	10	0.25106	T	0.35	.	11.8709	0.52519	0.1306:0.0:0.0:0.8694	.	546	Q96Q15	SMG1_HUMAN	R	546	ENSP00000402515:H546R;ENSP00000374118:H546R	ENSP00000374118:H546R	H	-	2	0	SMG1	18795200	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.089000	0.57685	2.073000	0.62155	0.402000	0.26972	CAT		0.333	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		8	126	0	0	0	1	0	8	126				
CPO	130749	broad.mit.edu	37	2	207827279	207827279	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:207827279C>A	ENST00000272852.3	+	7	764	c.718C>A	c.(718-720)Cag>Aag	p.Q240K		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	240						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CTCTTATGGGCAGTTAATTCT	0.458																																						ENST00000272852.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14						c.(718-720)Cag>Aag		carboxypeptidase O							200.0	187.0	192.0					2																	207827279		2203	4300	6503	SO:0001583	missense	130749				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr2:207827279C>A		CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"""metallocarboxypeptidase O"", ""metallocarboxypeptidase C"""	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.718C>A	2.37:g.207827279C>A	ENSP00000272852:p.Gln240Lys						p.Q240K	NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)	7	764	+			240					Q2M277|Q7RTW7	Missense_Mutation	SNP	ENST00000272852.3	37	c.718C>A	CCDS2372.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667939	0.88348	.	.	ENSG00000144410	ENST00000272852	T	0.33654	1.4	5.5	5.5	0.81552	Peptidase M14, carboxypeptidase A (3);	0.000000	0.85682	D	0.000000	T	0.67154	0.2863	M	0.89095	3.005	0.49582	D	0.999805	D	0.76494	0.999	D	0.87578	0.998	T	0.72574	-0.4252	10	0.87932	D	0	.	16.9428	0.86222	0.0:1.0:0.0:0.0	.	240	Q8IVL8	CBPO_HUMAN	K	240	ENSP00000272852:Q240K	ENSP00000272852:Q240K	Q	+	1	0	CPO	207535524	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	7.009000	0.76347	2.868000	0.98415	0.555000	0.69702	CAG		0.458	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	NM_173077		158	666	1	0	1.12709e-80	1	1.26485e-80	158	666				
FAM180A	389558	broad.mit.edu	37	7	135418752	135418752	+	Missense_Mutation	SNP	G	G	A	rs554135792		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr7:135418752G>A	ENST00000338588.3	-	3	758	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	FAM180A_ENST00000435869.1_Intron|FAM180A_ENST00000415751.1_Missense_Mutation_p.R165C	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	165						extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						TGTGAGGAGCGCATCAAGTCG	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		20056	0.0		0.0	False		,,,				2504	0.001					ENST00000338588.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						c.(493-495)Cgc>Tgc		family with sequence similarity 180, member A							67.0	59.0	62.0					7																	135418752		2203	4300	6503	SO:0001583	missense	389558					extracellular region		g.chr7:135418752G>A	AC091736, AK290250, AK310180, AY358803	CCDS5841.1	7q33	2008-07-25			ENSG00000189320	ENSG00000189320			33773	protein-coding gene	gene with protein product						12975309, 12690205	Standard	NM_205855		Approved	HWKM1940, UNQ1940	uc003vtd.3	Q6UWF9	OTTHUMG00000155537	ENST00000338588.3:c.493C>T	7.37:g.135418752G>A	ENSP00000342336:p.Arg165Cys					FAM180A_ENST00000415751.1_Missense_Mutation_p.R165C	p.R165C	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN			3	758	-			165					B2RP85	Missense_Mutation	SNP	ENST00000338588.3	37	c.493C>T	CCDS5841.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803009	0.70682	.	.	ENSG00000189320	ENST00000338588;ENST00000415751	T;T	0.32753	1.44;1.44	5.65	3.64	0.41730	.	0.844010	0.10623	N	0.653115	T	0.40398	0.1115	L	0.44542	1.39	0.41549	D	0.988564	D	0.65815	0.995	P	0.53861	0.736	T	0.26326	-1.0106	10	0.72032	D	0.01	-22.9136	12.1672	0.54138	0.0:0.0:0.6799:0.3201	.	165	Q6UWF9	F180A_HUMAN	C	165	ENSP00000342336:R165C;ENSP00000395467:R165C	ENSP00000342336:R165C	R	-	1	0	FAM180A	135069292	0.904000	0.30761	0.945000	0.38365	0.922000	0.55478	1.270000	0.33086	1.375000	0.46248	0.561000	0.74099	CGC		0.597	FAM180A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340554.2	NM_205855		47	156	0	0	0	1	0	47	156				
EPB41L3	23136	broad.mit.edu	37	18	5398076	5398076	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr18:5398076G>A	ENST00000341928.2	-	17	2756	c.2416C>T	c.(2416-2418)Cga>Tga	p.R806*	EPB41L3_ENST00000427684.2_Nonsense_Mutation_p.R103*|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.R806*|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.R637*|EPB41L3_ENST00000542146.1_Nonsense_Mutation_p.R111*|EPB41L3_ENST00000542652.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	806	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GTTGGTTTTCGCGCAGACTCT	0.453																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2416-2418)Cga>Tga		erythrocyte membrane protein band 4.1-like 3							225.0	231.0	229.0					18																	5398076		2203	4300	6503	SO:0001587	stop_gained	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5398076G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2416C>T	18.37:g.5398076G>A	ENSP00000343158:p.Arg806*					EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.R806*|EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.R637*|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000542146.1_Nonsense_Mutation_p.R111*|EPB41L3_ENST00000427684.2_Nonsense_Mutation_p.R103*	p.R806*	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			17	2756	-			806			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Nonsense_Mutation	SNP	ENST00000341928.2	37	c.2416C>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	40	8.140571	0.98672	.	.	ENSG00000082397	ENST00000341928;ENST00000544123;ENST00000427684;ENST00000542146;ENST00000342933	.	.	.	6.17	2.8	0.32819	.	0.352659	0.33477	N	0.004861	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8014	0.78456	0.0:0.0:0.1619:0.8381	.	.	.	.	X	806;637;103;111;806	.	ENSP00000343158:R806X	R	-	1	2	EPB41L3	5388076	0.996000	0.38824	0.129000	0.21949	0.981000	0.71138	3.424000	0.52764	0.287000	0.22375	0.655000	0.94253	CGA		0.453	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		396	934	0	0	0	1	0	396	934				
MUC2	4583	broad.mit.edu	37	11	1077612	1077612	+	Missense_Mutation	SNP	A	A	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr11:1077612A>T	ENST00000441003.2	+	3	389	c.362A>T	c.(361-363)cAc>cTc	p.H121L	MUC2_ENST00000359061.5_Missense_Mutation_p.H121L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	121	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGCACCCCGCACTACAGCCCC	0.682																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(361-363)cAc>cTc		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						27.0	33.0	31.0					11																	1077612		1953	4123	6076	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1077612A>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.362A>T	11.37:g.1077612A>T	ENSP00000415183:p.His121Leu					MUC2_ENST00000359061.5_Missense_Mutation_p.H121L	p.H121L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	389	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	121			VWFD 1.		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.362A>T		.	.	.	.	.	.	.	.	.	.	A	8.945	0.966802	0.18659	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.56776	0.44;0.44	3.52	2.34	0.29019	.	0.298471	0.27185	U	0.020528	T	0.55513	0.1925	L	0.51422	1.61	0.26066	N	0.981282	B	0.26195	0.144	B	0.43360	0.417	T	0.57579	-0.7787	10	0.62326	D	0.03	.	9.8992	0.41338	0.8285:0.1715:0.0:0.0	.	121	E7EUV1	.	L	121	ENSP00000415183:H121L;ENSP00000351956:H121L	ENSP00000351956:H121L	H	+	2	0	MUC2	1067612	1.000000	0.71417	0.876000	0.34364	0.336000	0.28762	5.272000	0.65559	0.388000	0.25054	0.334000	0.21626	CAC		0.682	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		33	91	0	0	0	1	0	33	91				
LINC00969	440993	broad.mit.edu	37	3	195400795	195400795	+	lincRNA	SNP	C	C	T	rs7615357	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:195400795C>T	ENST00000445430.1	+	0	1391									long intergenic non-protein coding RNA 969																		GGGGCAAACTCGCTGTTGGAC	0.592																																						ENST00000445430.1																			0																																																			0							g.chr3:195400795C>T	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400795C>T														0	1391	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.592	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			27	288	0	0	0	1	0	27	288				
UMODL1	89766	broad.mit.edu	37	21	43523941	43523941	+	Intron	SNP	C	C	A	rs220111	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr21:43523941C>A	ENST00000408910.2	+	9	1299				UMODL1_ENST00000408989.2_Intron|UMODL1_ENST00000400424.2_Intron|C21orf128_ENST00000329015.2_Missense_Mutation_p.V98F|UMODL1_ENST00000400427.1_Intron	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1						adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GTCGTGAAGACGTTGATGGAT	0.537													C|||	1534	0.30631	0.1619	0.3862	5008	,	,		20588	0.381		0.3608	False		,,,				2504	0.3119				Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000329015.2																			0				lung(4)	4						c.(292-294)Gtc>Ttc		chromosome 21 open reading frame 128		C	,,,	921,3485	352.3+/-311.7	107,707,1389	218.0	134.0	162.0		,,,	-4.2	0.0	21	dbSNP_79	162	3077,5523	472.3+/-368.3	563,1951,1786	no	intron,intron,intron,intron	UMODL1	NM_001004416.2,NM_001199527.1,NM_001199528.2,NM_173568.3	,,,	670,2658,3175	AA,AC,CC		35.7791,20.9033,30.7397	,,,	,,,	43523941	3998,9008	2203	4300	6503	SO:0001627	intron_variant	150147							g.chr21:43523941C>A		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1300-37C>A	21.37:g.43523941C>A						UMODL1_ENST00000400427.1_Intron|UMODL1_ENST00000400424.1_Intron|UMODL1_ENST00000408989.2_Intron|UMODL1_ENST00000408910.2_Intron	p.V98F							2	443	-								C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.292G>T	CCDS42936.1	710	0.3250915750915751	91	0.18495934959349594	126	0.34806629834254144	212	0.3706293706293706	281	0.370712401055409	C	9.178	1.022937	0.19433	0.209033	0.357791	ENSG00000184385	ENST00000329015	T	0.55588	0.51	2.57	-4.19	0.03835	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.17667	0.023	B	0.18561	0.022	T	0.37865	-0.9687	7	0.87932	D	0	.	4.3999	0.11381	0.175:0.207:0.0:0.618	rs220111;rs491691;rs17486704;rs17855828;rs56457178;rs57142892;rs220111	98	Q8N2C9	CU128_HUMAN	F	98	ENSP00000328495:V98F	ENSP00000328495:V98F	V	-	1	0	C21orf128	42397010	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.723000	0.04952	-1.129000	0.02918	-0.768000	0.03414	GTC		0.537	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			9	262	1	0	7.48243e-07	1	7.63359e-07	9	262				
OR2A5	393046	broad.mit.edu	37	7	143747854	143747854	+	Silent	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr7:143747854C>T	ENST00000408906.2	+	1	394	c.360C>T	c.(358-360)taC>taT	p.Y120Y		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGATGTCCTACGATCGGTACA	0.468																																						ENST00000408906.2																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38						c.(358-360)taC>taT		olfactory receptor, family 2, subfamily A, member 5							176.0	176.0	176.0					7																	143747854		2106	4248	6354	SO:0001819	synonymous_variant	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143747854C>T	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.360C>T	7.37:g.143747854C>T							p.Y120Y	NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN			1	394	+	Melanoma(164;0.0783)		120					B9EGX2|O43885|O43888	Silent	SNP	ENST00000408906.2	37	c.360C>T	CCDS43668.1																																																																																				0.468	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			309	642	0	0	0	1	0	309	642				
OTOP1	133060	broad.mit.edu	37	4	4228226	4228226	+	Silent	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr4:4228226G>A	ENST00000296358.4	-	1	390	c.366C>T	c.(364-366)cgC>cgT	p.R122R		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	122					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.R122R(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGTCCTTGAGGCGGAAGAGGC	0.716																																						ENST00000296358.4																			2	Substitution - coding silent(2)	p.R122R(2)	prostate(1)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(364-366)cgC>cgT		otopetrin 1							5.0	6.0	6.0					4																	4228226		1619	3562	5181	SO:0001819	synonymous_variant	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4228226G>A	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.366C>T	4.37:g.4228226G>A							p.R122R	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	1	390	-			122					A1L476	Silent	SNP	ENST00000296358.4	37	c.366C>T	CCDS3372.1																																																																																				0.716	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		6	69	0	0	0	1	0	6	69				
RP11-24M17.5	0	broad.mit.edu	37	15	76067987	76067987	+	RNA	SNP	A	A	G	rs34243492	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr15:76067987A>G	ENST00000395215.3	+	0	94																											GAAGAAACTCAACAGAGTAAA	0.537													.|||	1247	0.249002	0.149	0.3602	5008	,	,		15530	0.2391		0.3042	False		,,,				2504	0.2587					ENST00000395215.3																			0																																																			0							g.chr15:76067987A>G																													15.37:g.76067987A>G														0	94	+									RNA	SNP	ENST00000395215.3	37			549	0.25137362637362637	74	0.15040650406504066	119	0.3287292817679558	117	0.20454545454545456	239	0.3153034300791557	.	6.719	0.501314	0.12822	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.756	0.756	0.18421	.	.	.	.	.	T	0.00012	0.0000	.	.	.	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.38520	-0.9657	6	0.02654	T	1	.	5.3043	0.15795	0.2401:0.0:0.7599:0.0	rs34243492	18	B4DZE6	.	R	18	.	ENSP00000378641:Q18R	Q	+	2	0	AC019294.2	73855042	1.000000	0.71417	0.718000	0.30602	0.025000	0.11179	3.368000	0.52357	-0.118000	0.11851	-1.680000	0.00737	CAA		0.537	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			6	160	0	0	0	1	0	6	160				
SPECC1L	23384	broad.mit.edu	37	22	24717438	24717438	+	Missense_Mutation	SNP	G	G	A	rs200866362		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr22:24717438G>A	ENST00000314328.9	+	5	775	c.490G>A	c.(490-492)Gtt>Att	p.V164I	SPECC1L_ENST00000437398.1_Missense_Mutation_p.V164I|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.V164I|SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000541492.1_Missense_Mutation_p.V164I	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	164					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AGAATGTGACGTTCGTATGAG	0.478																																						ENST00000314328.9																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(490-492)Gtt>Att		sperm antigen with calponin homology and coiled-coil domains 1-like							106.0	96.0	100.0					22																	24717438		2203	4300	6503	SO:0001583	missense	23384				cell cycle|cell division			g.chr22:24717438G>A	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.490G>A	22.37:g.24717438G>A	ENSP00000325785:p.Val164Ile					KB-1896H10.1_ENST00000358654.2_Missense_Mutation_p.V164I|SPECC1L_ENST00000437398.1_Missense_Mutation_p.V164I|SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000541492.1_Missense_Mutation_p.V164I	p.V164I	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN			5	775	+			164					B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	ENST00000314328.9	37	c.490G>A	CCDS33619.1	.	.	.	.	.	.	.	.	.	.	G	5.588	0.293367	0.10567	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492;ENST00000440893	T;T;T;T;T	0.59224	0.28;2.77;0.28;3.29;0.97	5.72	2.48	0.30137	.	0.355674	0.31051	N	0.008356	T	0.34048	0.0884	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.14924	-1.0455	10	0.22109	T	0.4	-8.1952	7.4816	0.27408	0.3615:0.0:0.6385:0.0	.	164;164	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	I	192;164;164;164;164;103	ENSP00000393363:V164I;ENSP00000405671:V164I;ENSP00000325785:V164I;ENSP00000439633:V164I;ENSP00000414354:V103I	ENSP00000325785:V164I	V	+	1	0	SPECC1L	23047438	0.128000	0.22383	0.202000	0.23494	0.790000	0.44656	0.605000	0.24179	0.346000	0.23899	-0.145000	0.13849	GTT		0.478	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330		144	318	0	0	0	1	0	144	318				
WNT7B	7477	broad.mit.edu	37	22	46327243	46327243	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr22:46327243C>T	ENST00000339464.4	-	3	679	c.305G>A	c.(304-306)cGt>cAt	p.R102H	WNT7B_ENST00000410089.1_Missense_Mutation_p.R86H|WNT7B_ENST00000409496.3_Missense_Mutation_p.R106H|WNT7B_ENST00000410058.1_Missense_Mutation_p.R102H	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	102					activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		GGCAGCCTCACGGCTCCCTGC	0.701																																						ENST00000339464.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19						c.(304-306)cGt>cAt		wingless-type MMTV integration site family, member 7B							18.0	18.0	18.0					22																	46327243		2201	4298	6499	SO:0001583	missense	7477				activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity	g.chr22:46327243C>T	AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12787	protein-coding gene	gene with protein product		601967				8168088, 9284940, 11562755	Standard	NM_058238		Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000339464.4:c.305G>A	22.37:g.46327243C>T	ENSP00000341032:p.Arg102His					WNT7B_ENST00000409496.3_Missense_Mutation_p.R106H|WNT7B_ENST00000410058.1_Missense_Mutation_p.R102H|WNT7B_ENST00000410089.1_Missense_Mutation_p.R86H	p.R102H	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)	3	679	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	102					B8A596|Q96Q12	Missense_Mutation	SNP	ENST00000339464.4	37	c.305G>A	CCDS33667.1	.	.	.	.	.	.	.	.	.	.	c	20.9	4.061673	0.76187	.	.	ENSG00000188064	ENST00000339464;ENST00000410089;ENST00000409496;ENST00000410058;ENST00000428540	D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5	3.34	3.34	0.38264	.	0.000000	0.64402	U	0.000001	D	0.91536	0.7327	H	0.95982	3.75	0.51767	D	0.99993	D;D	0.63880	0.977;0.993	P;P	0.62491	0.839;0.903	D	0.94130	0.7387	10	0.87932	D	0	.	13.8568	0.63531	0.0:1.0:0.0:0.0	.	106;102	A8K0G1;P56706	.;WNT7B_HUMAN	H	102;86;106;102;35	ENSP00000341032:R102H;ENSP00000386781:R86H;ENSP00000386546:R106H;ENSP00000387217:R102H;ENSP00000392750:R35H	ENSP00000341032:R102H	R	-	2	0	WNT7B	44705907	1.000000	0.71417	0.860000	0.33809	0.904000	0.53231	4.484000	0.60271	1.709000	0.51313	0.461000	0.40582	CGT		0.701	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336418.1	NM_058238		49	116	0	0	0	1	0	49	116				
NLRP12	91662	broad.mit.edu	37	19	54327405	54327405	+	Silent	SNP	G	G	A	rs577507616		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:54327405G>A	ENST00000324134.6	-	1	192	c.24C>T	c.(22-24)gaC>gaT	p.D8D	NLRP12_ENST00000351894.4_Silent_p.D8D|NLRP12_ENST00000391773.1_Silent_p.D8D|NLRP12_ENST00000535162.1_Silent_p.D8D|NLRP12_ENST00000391775.3_Silent_p.D8D|NLRP12_ENST00000391772.1_Silent_p.D8D|NLRP12_ENST00000354278.3_Silent_p.D8D|NLRP12_ENST00000345770.5_Silent_p.D8D	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	8	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.D8E(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GACAGAGGCCGTCCCTGCCTG	0.612																																						ENST00000324134.6																			1	Substitution - Missense(1)	p.D8E(1)	lung(1)	NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(22-24)gaC>gaT		NLR family, pyrin domain containing 12							43.0	42.0	42.0					19																	54327405		2203	4300	6503	SO:0001819	synonymous_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54327405G>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.24C>T	19.37:g.54327405G>A						NLRP12_ENST00000391775.3_Silent_p.D8D|NLRP12_ENST00000535162.1_Silent_p.D8D|NLRP12_ENST00000391773.1_Silent_p.D8D|NLRP12_ENST00000391772.1_Silent_p.D8D|NLRP12_ENST00000345770.5_Silent_p.D8D|NLRP12_ENST00000354278.3_Silent_p.D8D|NLRP12_ENST00000351894.4_Silent_p.D8D	p.D8D	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	1	192	-	Ovarian(34;0.19)		8			DAPIN.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.24C>T	CCDS12864.1																																																																																				0.612	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		85	339	0	0	0	1	0	85	339				
ADAMTS12	81792	broad.mit.edu	37	5	33577113	33577113	+	Missense_Mutation	SNP	G	G	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:33577113G>C	ENST00000504830.1	-	19	3353	c.3018C>G	c.(3016-3018)aaC>aaG	p.N1006K	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.N921K|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1006	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TAGTGCCTTTGTTTGGTTTCA	0.527										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(3016-3018)aaC>aaG		ADAM metallopeptidase with thrombospondin type 1 motif, 12							159.0	155.0	156.0					5																	33577113		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33577113G>C	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3018C>G	5.37:g.33577113G>C	ENSP00000422554:p.Asn1006Lys	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Missense_Mutation_p.N921K|ADAMTS12_ENST00000504582.1_5'UTR	p.N1006K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			19	3353	-			1006			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3018C>G	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	0.106	-1.144819	0.01714	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.57595	0.39;0.39	5.14	-1.12	0.09808	.	0.672497	0.16125	N	0.228476	T	0.27832	0.0685	N	0.20986	0.625	0.58432	D	0.99999	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.001	T	0.08330	-1.0727	10	0.28530	T	0.3	.	0.6749	0.00865	0.3625:0.1167:0.2841:0.2367	.	921;1006	P58397-3;P58397	.;ATS12_HUMAN	K	1006;921	ENSP00000422554:N1006K;ENSP00000344847:N921K	ENSP00000344847:N921K	N	-	3	2	ADAMTS12	33612870	0.392000	0.25229	0.567000	0.28434	0.205000	0.24178	0.075000	0.14686	0.061000	0.16311	0.655000	0.94253	AAC		0.527	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		117	876	0	0	0	1	0	117	876				
ATP5G3	518	broad.mit.edu	37	2	176044902	176044902	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:176044902C>A	ENST00000284727.4	-	3	3068	c.44G>T	c.(43-45)cGa>cTa	p.R15L	ATP5G3_ENST00000392541.3_Missense_Mutation_p.R15L|ATP5G3_ENST00000409194.1_Missense_Mutation_p.R15L	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)	15					ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			GGATCCAGCTCGGATCTATTA	0.343																																					GBM(30;387 605 18606 28805 47989)	ENST00000284727.4																			0				large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						c.(43-45)cGa>cTa		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)							85.0	84.0	85.0					2																	176044902		2203	4300	6503	SO:0001583	missense	518				ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding	g.chr2:176044902C>A	BC106881	CCDS2263.1	2q31.1	2012-10-12	2010-06-11		ENSG00000154518	ENSG00000154518		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	843	protein-coding gene	gene with protein product		602736	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) isoform 3"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9)"""			7698763	Standard	NM_001002258		Approved		uc002ujz.4	P48201	OTTHUMG00000132425	ENST00000284727.4:c.44G>T	2.37:g.176044902C>A	ENSP00000284727:p.Arg15Leu					ATP5G3_ENST00000392541.3_Missense_Mutation_p.R15L|ATP5G3_ENST00000409194.1_Missense_Mutation_p.R15L	p.R15L	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.147)		3	3068	-			15					B2R4Z0|D3DPF0|Q4ZFX7	Missense_Mutation	SNP	ENST00000284727.4	37	c.44G>T	CCDS2263.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865255	0.91511	.	.	ENSG00000154518	ENST00000284727;ENST00000409194;ENST00000392541	T;T;T	0.24151	1.87;1.87;1.87	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.44244	0.1284	L	0.58925	1.835	0.80722	D	1	D	0.64830	0.994	P	0.57679	0.825	T	0.15292	-1.0442	10	0.41790	T	0.15	0.9783	19.332	0.94295	0.0:1.0:0.0:0.0	.	15	P48201	AT5G3_HUMAN	L	15	ENSP00000284727:R15L;ENSP00000387317:R15L;ENSP00000376324:R15L	ENSP00000284727:R15L	R	-	2	0	ATP5G3	175753148	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.252000	0.78309	2.652000	0.90054	0.563000	0.77884	CGA		0.343	ATP5G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255563.1	NM_001689		99	370	1	0	3.07327e-39	1	3.37392e-39	99	370				
SHANK1	50944	broad.mit.edu	37	19	51189519	51189519	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:51189519C>T	ENST00000293441.1	-	20	2570	c.2552G>A	c.(2551-2553)cGa>cAa	p.R851Q	SHANK1_ENST00000391814.1_Missense_Mutation_p.R859Q|SHANK1_ENST00000391813.1_Missense_Mutation_p.R238Q|SHANK1_ENST00000359082.3_Missense_Mutation_p.R842Q	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	851					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|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)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ACCTTTGGGTCGGTGTTTGCC	0.612																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(2551-2553)cGa>cAa		SH3 and multiple ankyrin repeat domains 1							78.0	68.0	71.0					19																	51189519		2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51189519C>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2552G>A	19.37:g.51189519C>T	ENSP00000293441:p.Arg851Gln					SHANK1_ENST00000391814.1_Missense_Mutation_p.R859Q|SHANK1_ENST00000391813.1_Missense_Mutation_p.R238Q|SHANK1_ENST00000359082.3_Missense_Mutation_p.R842Q	p.R851Q	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	20	2570	-		all_neural(266;0.057)	851					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.2552G>A	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081563	0.76528	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	3.91	3.91	0.45181	.	0.121407	0.31381	U	0.007749	T	0.62816	0.2459	M	0.75615	2.305	0.45914	D	0.998753	D;D	0.89917	0.99;1.0	B;D	0.81914	0.34;0.995	T	0.64449	-0.6405	10	0.39692	T	0.17	-10.4541	15.2111	0.73225	0.0:1.0:0.0:0.0	.	851;238	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	Q	851;238;842;859	ENSP00000293441:R851Q;ENSP00000375689:R238Q;ENSP00000351984:R842Q;ENSP00000375690:R859Q	ENSP00000293441:R851Q	R	-	2	0	SHANK1	55881331	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	5.717000	0.68446	2.211000	0.71520	0.478000	0.44815	CGA		0.612	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		177	201	0	0	0	1	0	177	201				
MAST4	375449	broad.mit.edu	37	5	66462696	66462696	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:66462696G>T	ENST00000403625.2	+	29	7984	c.7689G>T	c.(7687-7689)aaG>aaT	p.K2563N	MAST4_ENST00000403666.1_Missense_Mutation_p.K2374N|MAST4_ENST00000261569.7_Missense_Mutation_p.K2369N|MAST4_ENST00000404260.3_Missense_Mutation_p.K2566N|MAST4_ENST00000405643.1_Missense_Mutation_p.K2384N	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2566						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCAAAGGGAAGGACCCTGCCC	0.652																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(7696-7698)aaG>aaT		microtubule associated serine/threonine kinase family member 4							17.0	23.0	21.0					5																	66462696		1991	4154	6145	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66462696G>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.7689G>T	5.37:g.66462696G>T	ENSP00000385727:p.Lys2563Asn					MAST4_ENST00000403625.2_Missense_Mutation_p.K2563N|MAST4_ENST00000403666.1_Missense_Mutation_p.K2374N|MAST4_ENST00000261569.7_Missense_Mutation_p.K2369N|MAST4_ENST00000405643.1_Missense_Mutation_p.K2384N	p.K2566N			O15021	MAST4_HUMAN		Lung(70;0.011)	29	8006	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	2566					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.7698G>T	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.29|12.29	1.892169|1.892169	0.33442|0.33442	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000443808|ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	.|T;T;T;T;T	.|0.69435	.|-0.38;-0.38;-0.4;-0.4;-0.38	4.96|4.96	-0.072|-0.072	0.13741|0.13741	.|.	.|0.524558	.|0.17486	.|N	.|0.172521	.|T	.|0.48537	.|0.1505	L|L	0.32530|0.32530	0.975|0.975	0.24930|0.24930	N|N	0.991929|0.991929	.|P;P	.|0.42692	.|0.682;0.787	.|B;B	.|0.39258	.|0.154;0.295	.|T	.|0.44726	.|-0.9309	.|10	.|0.87932	.|D	.|0	-7.2859|-7.2859	4.9971|4.9971	0.14245|0.14245	0.5799:0.149:0.271:0.0|0.5799:0.149:0.271:0.0	.|.	.|2566;2374	.|O15021;O15021-3	.|MAST4_HUMAN;.	X|N	1620|2566;2563;2374;2384;2384;2369	.|ENSP00000385048:K2566N;ENSP00000385727:K2563N;ENSP00000384313:K2374N;ENSP00000384099:K2384N;ENSP00000261569:K2369N	.|ENSP00000261569:K2369N	G|K	+|+	1|3	0|2	MAST4|MAST4	66498452|66498452	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.396000|0.396000	0.30629|0.30629	0.740000|0.740000	0.26188|0.26188	0.102000|0.102000	0.17638|0.17638	0.561000|0.561000	0.74099|0.74099	GGA|AAG		0.652	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			21	47	1	0	3.8784e-16	1	4.03834e-16	21	47				
ENOX1	55068	broad.mit.edu	37	13	43934128	43934128	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr13:43934128G>A	ENST00000261488.6	-	7	1025	c.448C>T	c.(448-450)Cca>Tca	p.P150S	ENOX1_ENST00000482207.1_5'UTR|ENOX1_ENST00000412891.1_Missense_Mutation_p.P150S|ENOX1_ENST00000540032.1_5'UTR	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	150	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GCATTTTCTGGTAATCCTCCG	0.388																																						ENST00000261488.6																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(448-450)Cca>Tca		ecto-NOX disulfide-thiol exchanger 1							88.0	82.0	84.0					13																	43934128		2203	4300	6503	SO:0001583	missense	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43934128G>A	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.448C>T	13.37:g.43934128G>A	ENSP00000261488:p.Pro150Ser					ENOX1_ENST00000412891.1_Missense_Mutation_p.P150S|ENOX1_ENST00000482207.1_5'UTR|ENOX1_ENST00000540032.1_5'UTR	p.P150S	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	7	1025	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	150			RRM.		A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	c.448C>T	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612841	0.87258	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.78003	-1.14;-1.14	5.89	5.89	0.94794	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.85044	0.5607	L	0.39514	1.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85213	0.1022	10	0.66056	D	0.02	2.8841	20.248	0.98401	0.0:0.0:1.0:0.0	.	150	Q8TC92	ENOX1_HUMAN	S	150	ENSP00000261488:P150S;ENSP00000415054:P150S	ENSP00000261488:P150S	P	-	1	0	ENOX1	42832128	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.414000	0.97362	2.790000	0.95986	0.655000	0.94253	CCA		0.388	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		106	235	0	0	0	1	0	106	235				
MAST4	375449	broad.mit.edu	37	5	66462697	66462697	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:66462697G>T	ENST00000403625.2	+	29	7985	c.7690G>T	c.(7690-7692)Gac>Tac	p.D2564Y	MAST4_ENST00000403666.1_Missense_Mutation_p.D2375Y|MAST4_ENST00000261569.7_Missense_Mutation_p.D2370Y|MAST4_ENST00000404260.3_Missense_Mutation_p.D2567Y|MAST4_ENST00000405643.1_Missense_Mutation_p.D2385Y	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2567						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CAAAGGGAAGGACCCTGCCCC	0.647																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(7699-7701)Gac>Tac		microtubule associated serine/threonine kinase family member 4							17.0	23.0	21.0					5																	66462697		1993	4153	6146	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66462697G>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.7690G>T	5.37:g.66462697G>T	ENSP00000385727:p.Asp2564Tyr					MAST4_ENST00000403625.2_Missense_Mutation_p.D2564Y|MAST4_ENST00000403666.1_Missense_Mutation_p.D2375Y|MAST4_ENST00000261569.7_Missense_Mutation_p.D2370Y|MAST4_ENST00000405643.1_Missense_Mutation_p.D2385Y	p.D2567Y			O15021	MAST4_HUMAN		Lung(70;0.011)	29	8007	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	2567					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.7699G>T	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.43|14.43	2.533575|2.533575	0.45073|0.45073	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569|ENST00000443808	T;T;T;T;T|.	0.67698|.	-0.26;-0.26;-0.28;-0.27;-0.25|.	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.511218|.	0.18007|.	N|.	0.154702|.	T|T	0.39627|0.39627	0.1085|0.1085	N|N	0.14661|0.14661	0.345|0.345	0.32109|0.32109	N|N	0.58962|0.58962	P;P|.	0.52692|.	0.924;0.955|.	P;P|.	0.54312|.	0.564;0.748|.	T|T	0.41627|0.41627	-0.9498|-0.9498	10|5	0.87932|.	D|.	0|.	-10.3885|-10.3885	16.9304|16.9304	0.86189|0.86189	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2567;2375|.	O15021;O15021-3|.	MAST4_HUMAN;.|.	Y|V	2567;2564;2375;2385;2385;2370|1620	ENSP00000385048:D2567Y;ENSP00000385727:D2564Y;ENSP00000384313:D2375Y;ENSP00000384099:D2385Y;ENSP00000261569:D2370Y|.	ENSP00000261569:D2370Y|.	D|G	+|+	1|2	0|0	MAST4|MAST4	66498453|66498453	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.398000|0.398000	0.30690|0.30690	2.887000|2.887000	0.48586|0.48586	2.734000|2.734000	0.93682|0.93682	0.561000|0.561000	0.74099|0.74099	GAC|GGA		0.647	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			21	49	1	0	3.8784e-16	1	4.03834e-16	21	49				
NEK9	91754	broad.mit.edu	37	14	75590766	75590766	+	Missense_Mutation	SNP	T	T	G			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr14:75590766T>G	ENST00000238616.5	-	2	538	c.380A>C	c.(379-381)gAg>gCg	p.E127A		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	127	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		ATATTCCAGCTCAATCAGCAG	0.408																																						ENST00000238616.5																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(379-381)gAg>gCg		NIMA-related kinase 9							166.0	150.0	155.0					14																	75590766		2203	4300	6503	SO:0001583	missense	91754				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr14:75590766T>G	AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"""NIMA (never in mitosis gene a)- related kinase 9"""			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.380A>C	14.37:g.75590766T>G	ENSP00000238616:p.Glu127Ala						p.E127A	NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00718)	2	538	-			127			Protein kinase.		Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Missense_Mutation	SNP	ENST00000238616.5	37	c.380A>C	CCDS9839.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.550313	0.86127	.	.	ENSG00000119638	ENST00000238616;ENST00000540227;ENST00000557673;ENST00000553823	T;T;T	0.63913	1.94;-0.07;0.86	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.49541	0.1563	N	0.04373	-0.215	0.80722	D	1	P	0.38729	0.644	P	0.46510	0.519	T	0.52003	-0.8633	10	0.18276	T	0.48	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	127	Q8TD19	NEK9_HUMAN	A	127;109;9;9	ENSP00000238616:E127A;ENSP00000450943:E9A;ENSP00000452537:E9A	ENSP00000238616:E127A	E	-	2	0	NEK9	74660519	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	GAG		0.408	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	NM_033116		113	299	0	0	0	1	0	113	299				
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:145296373G>T	ENST00000342960.5	+	3	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	99						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.V99F(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473																																						ENST00000342960.5																			1	Substitution - Missense(1)	p.V99F(1)	kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(295-297)Gtt>Ttt		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145296373G>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.295G>T	1.37:g.145296373G>T	ENSP00000345684:p.Val99Phe					RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.V99F	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	3	330	+	all_hematologic(923;0.032)		99					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.295G>T	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	10.07	1.249076	0.22880	.	.	ENSG00000163386	ENST00000369339;ENST00000448873;ENST00000342960	T	0.03889	3.77	1.15	-0.158	0.13383	.	.	.	.	.	T	0.03220	0.0094	M	0.72479	2.2	0.09310	N	1	.	.	.	.	.	.	T	0.38757	-0.9646	7	0.87932	D	0	.	3.0726	0.06236	0.7069:0.0:0.2931:0.0	rs3969711;rs4996270	.	.	.	F	99;24;99	ENSP00000345684:V99F	ENSP00000345684:V99F	V	+	1	0	NBPF10	144007730	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.057000	0.14279	-0.026000	0.13895	0.121000	0.15741	GTT		0.473	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		24	956	1	0	1.88708e-17	1	2.00627e-17	24	956				
LINC00521	256369	broad.mit.edu	37	14	94464479	94464479	+	RNA	SNP	T	T	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr14:94464479T>A	ENST00000444118.1	+	0	159					NR_024182.1		Q8NCU1	CN048_HUMAN	long intergenic non-protein coding RNA 521																		GGTGAGGTGATGGCAGCCATG	0.587																																						ENST00000444118.1																			0																				79.0	66.0	71.0					14																	94464479		2203	4300	6503			0							g.chr14:94464479T>A	BI463117		14q32.12	2012-10-12	2011-11-29	2011-11-29	ENSG00000175699	ENSG00000175699		"""Long non-coding RNAs"""	19860	non-coding RNA	RNA, long non-coding			"""chromosome 14 open reading frame 48"""	C14orf48			Standard	NR_024182		Approved		uc001ycg.1	Q8NCU1	OTTHUMG00000156974		14.37:g.94464479T>A								NR_024182.1						0	159	+								Q8N7S1	RNA	SNP	ENST00000444118.1	37																																																																																						0.587	LINC00521-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000346916.1			54	157	0	0	0	1	0	54	157				
IGF2BP2	10644	broad.mit.edu	37	3	185364845	185364845	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:185364845C>T	ENST00000382199.2	-	15	1770	c.1675G>A	c.(1675-1677)Gtc>Atc	p.V559I	IGF2BP2_ENST00000494906.1_5'Flank|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.V516I|IGF2BP2_ENST00000421047.2_Missense_Mutation_p.V502I|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.V565I	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	559	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ATAATTCTGACGATCACTTCC	0.507																																						ENST00000382199.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20						c.(1675-1677)Gtc>Atc		insulin-like growth factor 2 mRNA binding protein 2							215.0	177.0	190.0					3																	185364845		2203	4300	6503	SO:0001583	missense	10644				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr3:185364845C>T	BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.1675G>A	3.37:g.185364845C>T	ENSP00000371634:p.Val559Ile					IGF2BP2_ENST00000346192.3_Missense_Mutation_p.V516I|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.V565I|IGF2BP2_ENST00000421047.2_Missense_Mutation_p.V502I	p.V559I	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		15	1770	-	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		559			KH 4.		A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Missense_Mutation	SNP	ENST00000382199.2	37	c.1675G>A	CCDS3273.2	.	.	.	.	.	.	.	.	.	.	C	33	5.267801	0.95399	.	.	ENSG00000073792	ENST00000382199;ENST00000421047;ENST00000457616;ENST00000346192	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.02	5.02	0.67125	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.059424	0.64402	D	0.000002	T	0.50446	0.1616	L	0.52206	1.635	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.997;1.0	D;D;D;D;D;D	0.87578	0.977;0.997;0.997;0.997;0.915;0.998	T	0.40739	-0.9547	10	0.39692	T	0.17	-20.9324	17.4755	0.87658	0.0:1.0:0.0:0.0	.	453;496;502;565;516;559	Q9Y6M1-5;Q9Y6M1-3;Q9Y6M1-4;F8W930;Q9Y6M1-1;Q9Y6M1	.;.;.;.;.;IF2B2_HUMAN	I	559;502;565;516	ENSP00000371634:V559I;ENSP00000413787:V502I;ENSP00000410242:V565I;ENSP00000320204:V516I	ENSP00000320204:V516I	V	-	1	0	IGF2BP2	186847539	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.499000	0.84300	0.555000	0.69702	GTC		0.507	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2	NM_006548		124	422	0	0	0	1	0	124	422				
PCDHB14	56122	broad.mit.edu	37	5	140604697	140604697	+	Silent	SNP	G	G	A	rs147849897	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:140604697G>A	ENST00000239449.4	+	1	1620	c.1620G>A	c.(1618-1620)gcG>gcA	p.A540A	PCDHB14_ENST00000515856.2_Silent_p.A387A	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	540	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)	p.A540A(1)		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)			GGTCCCCGGCGTTGAGCAGCG	0.682																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			1	Substitution - coding silent(1)	p.A540A(1)	endometrium(1)	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.(1618-1620)gcG>gcA									48.0	54.0	52.0					5																	140604697		2203	4299	6502	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604697G>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.1620G>A	5.37:g.140604697G>A						PCDHB14_ENST00000515856.2_Silent_p.A387A	p.A540A	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1620	+			540			Cadherin 5.		B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	37	c.1620G>A	CCDS4256.1																																																																																				0.682	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		209	420	0	0	0	1	0	209	420				
COX4I2	84701	broad.mit.edu	37	20	30232606	30232606	+	Missense_Mutation	SNP	C	C	T	rs200392726	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr20:30232606C>T	ENST00000376075.3	+	5	490	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	139					cellular respiration (GO:0045333)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)	mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			GACGGACGAGCGGAAAGCCCA	0.582													T|||	2	0.000399361	0.0	0.0	5008	,	,		18339	0.0		0.0	False		,,,				2504	0.002					ENST00000376075.3																			0				breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11						c.(415-417)Cgg>Tgg		cytochrome c oxidase subunit IV isoform 2 (lung)		T	TRP/ARG	0,4406		0,0,2203	88.0	72.0	77.0		415	0.8	0.3	20		77	1,8599	819.2+/-406.8	0,1,4299	yes	missense	COX4I2	NM_032609.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	139/172	30232606	1,13005	2203	4300	6503	SO:0001583	missense	84701				cellular respiration		cytochrome-c oxidase activity	g.chr20:30232606C>T	AF257180	CCDS13187.1	20q11.21	2011-07-04	2004-08-11		ENSG00000131055	ENSG00000131055		"""Mitochondrial respiratory chain complex / Complex IV"""	16232	protein-coding gene	gene with protein product	"""cytochrome c oxidase subunit IV-like 2"""	607976	"""cytochrome c oxidase subunit IV isoform 2"""	COX4L2		11311561, 17937768	Standard	NM_032609		Approved	COXIV-2, COX4B, dJ857M17.2, COX4-2	uc002wwj.1	Q96KJ9	OTTHUMG00000032180	ENST00000376075.3:c.415C>T	20.37:g.30232606C>T	ENSP00000365243:p.Arg139Trp					COX4I2_ENST00000490030.1_3'UTR	p.R139W	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)		5	490	+	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		139					Q6GTF4|Q9H0Z4	Missense_Mutation	SNP	ENST00000376075.3	37	c.415C>T	CCDS13187.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.908787	0.00508	0.0	1.16E-4	ENSG00000131055	ENST00000376075	T	0.44482	0.92	4.38	0.825	0.18824	.	0.358373	0.28182	N	0.016300	T	0.10895	0.0266	N	0.01048	-1.04	0.20307	N	0.999915	B	0.02656	0.0	B	0.01281	0.0	T	0.36335	-0.9752	10	0.02654	T	1	-2.7008	7.3252	0.26551	0.0:0.4506:0.0:0.5494	.	139	Q96KJ9	COX42_HUMAN	W	139	ENSP00000365243:R139W	ENSP00000365243:R139W	R	+	1	2	COX4I2	29696267	0.975000	0.34042	0.349000	0.25694	0.011000	0.07611	1.047000	0.30367	-0.290000	0.09025	-0.817000	0.03123	CGG		0.582	COX4I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078548.1	NM_032609		50	259	0	0	0	1	0	50	259				
GABRB3	2562	broad.mit.edu	37	15	26825521	26825521	+	Silent	SNP	C	C	T	rs146431931		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr15:26825521C>T	ENST00000311550.5	-	6	738	c.627G>A	c.(625-627)ccG>ccA	p.P209P	GABRB3_ENST00000299267.4_Silent_p.P209P|GABRB3_ENST00000541819.2_Silent_p.P265P|GABRB3_ENST00000400188.3_Silent_p.P138P|GABRB3_ENST00000545868.1_Silent_p.P124P	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	209					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGGAGAACTGCGGGAGCTCAA	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		18322	0.0		0.0	False		,,,				2504	0.001					ENST00000541819.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(793-795)ccG>ccA		gamma-aminobutyric acid (GABA) A receptor, beta 3	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	C	,,,	0,4406		0,0,2203	131.0	116.0	121.0		627,372,414,627	-10.2	0.7	15	dbSNP_134	121	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GABRB3	NM_000814.5,NM_001191320.1,NM_001191321.1,NM_021912.4	,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,	209/474,124/389,138/403,209/474	26825521	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26825521C>T		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.627G>A	15.37:g.26825521C>T						GABRB3_ENST00000400188.3_Silent_p.P138P|GABRB3_ENST00000311550.5_Silent_p.P209P|GABRB3_ENST00000545868.1_Silent_p.P124P|GABRB3_ENST00000299267.4_Silent_p.P209P	p.P265P			P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	7	897	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	209					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	ENST00000311550.5	37	c.795G>A	CCDS10019.1																																																																																				0.562	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			16	313	0	0	0	1	0	16	313				
FAT2	2196	broad.mit.edu	37	5	150945261	150945261	+	Missense_Mutation	SNP	C	C	T	rs142737825	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:150945261C>T	ENST00000261800.5	-	1	3244	c.3232G>A	c.(3232-3234)Gca>Aca	p.A1078T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1078	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGAAGGCTGCGAGTCCAGTG	0.597													C|||	3	0.000599042	0.0023	0.0	5008	,	,		11388	0.0		0.0	False		,,,				2504	0.0					ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(3232-3234)Gca>Aca		FAT atypical cadherin 2		C	THR/ALA	3,4403	6.2+/-15.9	0,3,2200	36.0	37.0	37.0		3232	3.2	0.2	5	dbSNP_134	37	1,8597	1.2+/-3.3	0,1,4298	yes	missense	FAT2	NM_001447.2	58	0,4,6498	TT,TC,CC		0.0116,0.0681,0.0308	benign	1078/4350	150945261	4,13000	2203	4299	6502	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150945261C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3232G>A	5.37:g.150945261C>T	ENSP00000261800:p.Ala1078Thr						p.A1078T	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	3244	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1078			Cadherin 9.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.3232G>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537775	0.27475	6.81E-4	1.16E-4	ENSG00000086570	ENST00000261800	T	0.03181	4.02	4.95	3.17	0.36434	Cadherin (4);Cadherin-like (1);	0.434861	0.21480	N	0.073843	T	0.02230	0.0069	N	0.11341	0.13	0.20307	N	0.999912	B	0.18968	0.032	B	0.14023	0.01	T	0.45101	-0.9284	10	0.39692	T	0.17	.	7.2879	0.26350	0.1444:0.7035:0.0:0.1521	.	1078	Q9NYQ8	FAT2_HUMAN	T	1078	ENSP00000261800:A1078T	ENSP00000261800:A1078T	A	-	1	0	FAT2	150925454	0.556000	0.26538	0.248000	0.24265	0.638000	0.38207	1.972000	0.40540	0.608000	0.30000	0.655000	0.94253	GCA		0.597	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		61	133	0	0	0	1	0	61	133				
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr7:65222986G>T	ENST00000442266.1	+	0	578				SNORA15_ENST00000384058.1_RNA|SNORA22_ENST00000383907.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		GAATTCTGGCGTTTTTTACAA	0.289																																						ENST00000442266.1																			0																																																			0							g.chr7:65222986G>T	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65222986G>T														0	578	+									RNA	SNP	ENST00000442266.1	37																																																																																						0.289	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		5	62	1	0	0.0215528	1	0.0215528	5	62				
FAM69B	138311	broad.mit.edu	37	9	139620623	139620623	+	IGR	SNP	T	T	G			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr9:139620623T>G	ENST00000371692.4	+	0	1668				SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000362567.2_RNA|SNHG7_ENST00000414282.1_RNA|SNHG7_ENST00000416970.1_RNA|SNHG7_ENST00000391185.1_RNA|SNHG7_ENST00000436596.1_RNA	NM_152421.3	NP_689634.2	Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		AAATCGCCACTTTCTCTTTGC	0.567																																						ENST00000414282.1																			0																				48.0	46.0	46.0					9																	139620623		876	1991	2867	SO:0001628	intergenic_variant	0							g.chr9:139620623T>G		CCDS7004.1	9q34.3	2012-08-03			ENSG00000165716	ENSG00000165716			28290	protein-coding gene	gene with protein product		614543				21334309	Standard	NM_152421		Approved	MGC20262, C9orf136	uc004cik.3	Q5VUD6	OTTHUMG00000020940		9.37:g.139620623T>G						SNHG7_ENST00000416970.1_RNA|SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000436596.1_RNA|SNHG7_ENST00000362567.2_RNA								0	451	-								Q5VUD7|Q8N5N0|Q8WYU5	RNA	SNP	ENST00000371692.4	37		CCDS7004.1																																																																																				0.567	FAM69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055102.1	NM_152421		65	113	0	0	0	1	0	65	113				
SMAD4	4089	broad.mit.edu	37	18	48603028	48603028	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr18:48603028T>A	ENST00000342988.3	+	11	1867	c.1329T>A	c.(1327-1329)tgT>tgA	p.C443*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.C347*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.C443*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	443	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)|p.R441fs*16(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGCGTCAGTGTCATCGACAGA	0.453																																						ENST00000342988.3																			39	Whole gene deletion(36)|Unknown(2)|Deletion - Frameshift(1)	p.0?(36)|p.?(2)|p.R441fs*16(1)	pancreas(27)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1327-1329)tgT>tgA		SMAD family member 4							43.0	44.0	44.0					18																	48603028		2203	4300	6503	SO:0001587	stop_gained	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48603028T>A	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1329T>A	18.37:g.48603028T>A	ENSP00000341551:p.Cys443*					SMAD4_ENST00000398417.2_Nonsense_Mutation_p.C443*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.C347*	p.C443*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	11	1867	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	443			MH2.		A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	37	c.1329T>A	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	T	41	9.134028	0.99077	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	.	.	.	6.03	4.68	0.58851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7929	0.52080	0.0:0.0806:0.0:0.9194	.	.	.	.	X	443	.	ENSP00000341551:C443X	C	+	3	2	SMAD4	46857026	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.233000	0.32648	2.308000	0.77769	0.533000	0.62120	TGT		0.453	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		69	115	0	0	0	1	0	69	115				
PTPRH	5794	broad.mit.edu	37	19	55711614	55711614	+	Silent	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:55711614G>A	ENST00000376350.3	-	7	1432	c.1410C>T	c.(1408-1410)agC>agT	p.S470S	PTPRH_ENST00000263434.5_Silent_p.S292S|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	470	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S470S(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTGTGGAGATGCTGACATTCT	0.542																																						ENST00000376350.3																			1	Substitution - coding silent(1)	p.S470S(1)	endometrium(1)	breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(1408-1410)agC>agT		protein tyrosine phosphatase, receptor type, H							121.0	103.0	109.0					19																	55711614		2203	4300	6503	SO:0001819	synonymous_variant	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55711614G>A		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1410C>T	19.37:g.55711614G>A						PTPRH_ENST00000263434.5_Silent_p.S292S|PTPRH_ENST00000588559.1_5'UTR	p.S470S	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	7	1432	-		Renal(1328;0.245)	470			Fibronectin type-III 5.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	ENST00000376350.3	37	c.1410C>T	CCDS33110.1																																																																																				0.542	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			69	282	0	0	0	1	0	69	282				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						ENST00000557932.1																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A														0	1145	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		5	128	0	0	0	1	0	5	128				
PCDH15	65217	broad.mit.edu	37	10	55826528	55826528	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr10:55826528C>A	ENST00000320301.6	-	18	2603	c.2209G>T	c.(2209-2211)Ggt>Tgt	p.G737C	PCDH15_ENST00000395445.1_Missense_Mutation_p.G744C|PCDH15_ENST00000414778.1_Missense_Mutation_p.G742C|PCDH15_ENST00000437009.1_Missense_Mutation_p.G666C|PCDH15_ENST00000361849.3_Missense_Mutation_p.G737C|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.G348C|PCDH15_ENST00000373957.3_Missense_Mutation_p.G715C|PCDH15_ENST00000395438.1_Missense_Mutation_p.G737C|PCDH15_ENST00000395433.1_Missense_Mutation_p.G715C|PCDH15_ENST00000395430.1_Missense_Mutation_p.G737C|PCDH15_ENST00000373955.1_Missense_Mutation_p.G737C|PCDH15_ENST00000395432.2_Missense_Mutation_p.G700C|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.G744C	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	737	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.G742S(2)|p.G737S(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTACTTGACCCACAAAGGCA	0.328										HNSCC(58;0.16)																												ENST00000373965.2																			4	Substitution - Missense(4)	p.G742S(2)|p.G737S(2)	lung(4)	NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(2230-2232)Ggt>Tgt		protocadherin-related 15							88.0	83.0	85.0					10																	55826528		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55826528C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2209G>T	10.37:g.55826528C>A	ENSP00000322604:p.Gly737Cys	HNSCC(58;0.16)				PCDH15_ENST00000395433.1_Missense_Mutation_p.G715C|PCDH15_ENST00000373957.3_Missense_Mutation_p.G715C|PCDH15_ENST00000373955.1_Missense_Mutation_p.G737C|PCDH15_ENST00000414778.1_Missense_Mutation_p.G742C|PCDH15_ENST00000395445.1_Missense_Mutation_p.G744C|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.G737C|PCDH15_ENST00000437009.1_Missense_Mutation_p.G666C|PCDH15_ENST00000395430.1_Missense_Mutation_p.G737C|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.G737C|PCDH15_ENST00000395432.2_Missense_Mutation_p.G700C|PCDH15_ENST00000409834.1_Missense_Mutation_p.G348C|PCDH15_ENST00000320301.6_Missense_Mutation_p.G737C|PCDH15_ENST00000395442.1_Intron	p.G744C	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			19	2624	-		Melanoma(3;0.117)|Lung SC(717;0.238)	737			Cadherin 7.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.2230G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170170	0.78452	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T	0.63255	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;-0.03;0.58;0.58;0.58;0.58	5.85	5.85	0.93711	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.67249	0.2873	L	0.60067	1.865	0.80722	D	1	B;B;B;B;B;B;B;B;P;B;P;P;B;P;P	0.40553	0.289;0.045;0.186;0.097;0.285;0.045;0.289;0.254;0.529;0.289;0.529;0.529;0.037;0.721;0.529	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.44163	0.33;0.071;0.208;0.16;0.232;0.104;0.33;0.35;0.443;0.232;0.33;0.33;0.067;0.32;0.33	T	0.69957	-0.5004	9	0.87932	D	0	.	18.9349	0.92582	0.0:1.0:0.0:0.0	.	715;737;737;742;666;700;737;737;744;744;737;742;737;715;737	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	C	744;742;737;737;348;744;700;737;715;715;737;737;742;666;737	ENSP00000363076:G744C;ENSP00000410304:G742C;ENSP00000378826:G737C;ENSP00000386693:G348C;ENSP00000378832:G744C;ENSP00000378820:G700C;ENSP00000354950:G737C;ENSP00000378821:G715C;ENSP00000363068:G715C;ENSP00000322604:G737C;ENSP00000378818:G737C;ENSP00000412628:G666C;ENSP00000363066:G737C	ENSP00000322604:G737C	G	-	1	0	PCDH15	55496534	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.661000	0.61518	2.773000	0.95371	0.655000	0.94253	GGT		0.328	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		89	248	1	0	4.08182e-41	1	4.53038e-41	89	248				
UBR4	23352	broad.mit.edu	37	1	19477078	19477078	+	Silent	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:19477078G>A	ENST00000375254.3	-	49	7450	c.7423C>T	c.(7423-7425)Ctg>Ttg	p.L2475L	UBR4_ENST00000375217.2_Silent_p.L2475L|UBR4_ENST00000375226.2_Silent_p.L2475L|UBR4_ENST00000375267.2_Silent_p.L2475L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2475					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TACCTCTCCAGGACAGTTCCA	0.522																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(7423-7425)Ctg>Ttg		ubiquitin protein ligase E3 component n-recognin 4							79.0	76.0	77.0					1																	19477078		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19477078G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.7423C>T	1.37:g.19477078G>A						UBR4_ENST00000375217.2_Silent_p.L2475L|UBR4_ENST00000375226.2_Silent_p.L2475L|UBR4_ENST00000375254.3_Silent_p.L2475L	p.L2475L			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	49	7426	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2475					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.7423C>T	CCDS189.1																																																																																				0.522	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		191	956	0	0	0	1	0	191	956				
FRMD1	79981	broad.mit.edu	37	6	168461474	168461474	+	Missense_Mutation	SNP	G	G	A	rs138998311	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr6:168461474G>A	ENST00000283309.6	-	9	1373	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C	FRMD1_ENST00000440994.2_Missense_Mutation_p.R369C|FRMD1_ENST00000537786.1_Missense_Mutation_p.R208C|FRMD1_ENST00000432403.1_5'UTR	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	437						cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGGTGGCTGCGGCTGGTCCTG	0.657													g|||	4	0.000798722	0.0	0.0014	5008	,	,		17322	0.0		0.003	False		,,,				2504	0.0				GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)	ENST00000283309.6																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(1309-1311)Cgc>Tgc		FERM domain containing 1		A	CYS/ARG,CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	35.0	34.0	35.0		1105,1309	-0.6	0.0	6	dbSNP_134	35	23,8577	16.6+/-54.9	0,23,4277	yes	missense,missense	FRMD1	NM_001122841.1,NM_024919.3	180,180	0,25,6478	AA,AG,GG		0.2674,0.0454,0.1922	probably-damaging,probably-damaging	369/482,437/550	168461474	25,12981	2203	4300	6503	SO:0001583	missense	79981					cytoskeleton	binding	g.chr6:168461474G>A		CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.1309C>T	6.37:g.168461474G>A	ENSP00000283309:p.Arg437Cys					FRMD1_ENST00000537786.1_Missense_Mutation_p.R208C|FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000440994.2_Missense_Mutation_p.R369C	p.R437C	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	9	1373	-		Breast(66;1.07e-05)|Ovarian(120;0.0728)	437					B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Missense_Mutation	SNP	ENST00000283309.6	37	c.1309C>T	CCDS5306.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	g	5.604	0.296248	0.10622	4.54E-4	0.002674	ENSG00000153303	ENST00000283309;ENST00000440994;ENST00000537786	T;T;T	0.44881	0.91;0.91;0.91	2.48	-0.635	0.11512	.	8.020120	0.01376	N	0.012743	T	0.09423	0.0232	N	0.22421	0.69	0.18873	N	0.999988	B;B;B;B	0.17465	0.001;0.022;0.012;0.007	B;B;B;B	0.09377	0.001;0.002;0.004;0.001	T	0.11842	-1.0571	10	0.40728	T	0.16	.	0.7804	0.01040	0.4347:0.1729:0.2181:0.1743	.	372;437;369;332	B7Z8G9;Q8N878;Q8N878-2;Q5SZU5	.;FRMD1_HUMAN;.;.	C	437;369;208	ENSP00000283309:R437C;ENSP00000414115:R369C;ENSP00000440078:R208C	ENSP00000283309:R437C	R	-	1	0	FRMD1	168204323	0.004000	0.15560	0.003000	0.11579	0.008000	0.06430	-0.079000	0.11357	-0.350000	0.08262	-2.023000	0.00429	CGC		0.657	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	NM_024919		8	133	0	0	0	1	0	8	133				
PDAP1	11333	broad.mit.edu	37	7	98995523	98995523	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr7:98995523C>T	ENST00000350498.3	-	5	729	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	PDAP1_ENST00000496335.1_5'UTR	NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	150					cell proliferation (GO:0008283)|signal transduction (GO:0007165)		poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AGCCTCCTCCCGCTGTTTCCG	0.602																																						ENST00000350498.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9						c.(448-450)cGg>cAg		PDGFA associated protein 1	Becaplermin(DB00102)						88.0	83.0	85.0					7																	98995523		2203	4300	6503	SO:0001583	missense	11333				cell proliferation|signal transduction			g.chr7:98995523C>T	U41745	CCDS5662.1	7q	2008-07-18			ENSG00000106244	ENSG00000106244			14634	protein-coding gene	gene with protein product	"""PDGF associated protein"""	607075				8780057	Standard	NM_014891		Approved	PAP1, PAP, HASPP28	uc003uqe.3	Q13442	OTTHUMG00000154629	ENST00000350498.3:c.449G>A	7.37:g.98995523C>T	ENSP00000222968:p.Arg150Gln					PDAP1_ENST00000496335.1_5'UTR	p.R150Q	NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		5	729	-	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		150					D6W5S5|Q92906	Missense_Mutation	SNP	ENST00000350498.3	37	c.449G>A	CCDS5662.1	.	.	.	.	.	.	.	.	.	.	C	37	6.008410	0.97195	.	.	ENSG00000106244	ENST00000350498	.	.	.	5.13	5.13	0.70059	Casein kinase substrate, phosphoprotein PP28 (1);	0.000000	0.85682	D	0.000000	D	0.87245	0.6129	H	0.94808	3.585	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	D	0.90785	0.4682	9	0.87932	D	0	-12.552	18.9358	0.92584	0.0:1.0:0.0:0.0	.	150	Q13442	HAP28_HUMAN	Q	150	.	ENSP00000222968:R150Q	R	-	2	0	PDAP1	98833459	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.582000	0.82546	2.553000	0.86117	0.650000	0.86243	CGG		0.602	PDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336388.2	NM_014891		148	353	0	0	0	1	0	148	353				
ZNF676	163223	broad.mit.edu	37	19	22362994	22362994	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:22362994C>A	ENST00000397121.2	-	3	1842	c.1525G>T	c.(1525-1527)Gaa>Taa	p.E509*		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	509					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTGCCACATTCTTCACATTTG	0.388																																						ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(1525-1527)Gaa>Taa		zinc finger protein 676							64.0	68.0	67.0					19																	22362994		2156	4276	6432	SO:0001587	stop_gained	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22362994C>A	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1525G>T	19.37:g.22362994C>A	ENSP00000380310:p.Glu509*						p.E509*	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	1842	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	509					A8MVX5	Nonsense_Mutation	SNP	ENST00000397121.2	37	c.1525G>T	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	23.9	4.466068	0.84425	.	.	ENSG00000196109	ENST00000397121	.	.	.	0.81	-1.62	0.08372	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	7.3206	0.26526	0.0:0.7253:0.2747:0.0	.	.	.	.	X	509	.	ENSP00000380310:E509X	E	-	1	0	ZNF676	22154834	0.000000	0.05858	0.086000	0.20670	0.086000	0.17979	-0.518000	0.06267	0.181000	0.19994	0.184000	0.17185	GAA		0.388	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		83	270	1	0	2.17451e-35	1	2.36157e-35	83	270				
FLRT2	23768	broad.mit.edu	37	14	86087923	86087923	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr14:86087923T>A	ENST00000330753.4	+	2	832	c.65T>A	c.(64-66)aTt>aAt	p.I22N	FLRT2_ENST00000554746.1_Missense_Mutation_p.I22N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	22					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGGCTTATCATTTCCCTGGGG	0.507																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(64-66)aTt>aAt		fibronectin leucine rich transmembrane protein 2							80.0	80.0	80.0					14																	86087923		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86087923T>A	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.65T>A	14.37:g.86087923T>A	ENSP00000332879:p.Ile22Asn					FLRT2_ENST00000554746.1_Missense_Mutation_p.I22N	p.I22N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	832	+			22					A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.65T>A	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	T	19.59	3.856684	0.71834	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.57752	0.38;0.38	5.73	5.73	0.89815	.	0.451624	0.24838	N	0.035191	T	0.39226	0.1070	N	0.14661	0.345	0.39960	D	0.974659	B	0.31790	0.34	B	0.30855	0.121	T	0.45585	-0.9251	10	0.87932	D	0	-1.5983	16.0233	0.80516	0.0:0.0:0.0:1.0	.	22	O43155	FLRT2_HUMAN	N	22	ENSP00000332879:I22N;ENSP00000451050:I22N	ENSP00000332879:I22N	I	+	2	0	FLRT2	85157676	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	7.988000	0.88194	2.186000	0.69663	0.533000	0.62120	ATT		0.507	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			132	374	0	0	0	1	0	132	374				
KIAA0754	643314	broad.mit.edu	37	1	39878506	39878506	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:39878506G>T	ENST00000530275.1	+	1	2356	c.2161G>T	c.(2161-2163)Ggt>Tgt	p.G721C	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	721										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCCAGAGGAGGGTACCTCAAT	0.542																																						ENST00000530275.1																			0				central_nervous_system(1)|large_intestine(6)|skin(1)	8						c.(2161-2163)Ggt>Tgt		KIAA0754							41.0	42.0	42.0					1																	39878506		2000	4167	6167	SO:0001583	missense	643314							g.chr1:39878506G>T			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.2161G>T	1.37:g.39878506G>T	ENSP00000431179:p.Gly721Cys					MACF1_ENST00000289893.4_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron	p.G721C	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	2356	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	721					E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.2161G>T		.	.	.	.	.	.	.	.	.	.	G	9.814	1.183976	0.21870	.	.	ENSG00000255103	ENST00000530275	T	0.25912	1.77	2.94	2.01	0.26516	.	.	.	.	.	T	0.11495	0.0280	N	0.08118	0	0.09310	N	1	P	0.50156	0.932	B	0.40285	0.325	T	0.10636	-1.0621	9	0.62326	D	0.03	.	4.2424	0.10654	0.1402:0.2402:0.6196:0.0	.	721	O94854	K0754_HUMAN	C	721	ENSP00000431179:G721C	ENSP00000431179:G721C	G	+	1	0	RP4-562N20.1	39651093	0.000000	0.05858	0.003000	0.11579	0.011000	0.07611	-0.271000	0.08572	0.553000	0.29044	0.561000	0.74099	GGT		0.542	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		18	55	1	0	9.7654e-05	1	9.86306e-05	18	55				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						ENST00000463781.3																			10	Substitution - Missense(10)	p.H4205Q(10)	kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12613-12615)caC>caG		mucin 4, cell surface associated							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13074	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	968					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12615C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		14	36	0	0	0	1	0	14	36				
ABLIM1	3983	broad.mit.edu	37	10	116444085	116444085	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr10:116444085G>A	ENST00000369252.4	-	1	329	c.28C>T	c.(28-30)Ctc>Ttc	p.L10F	ABLIM1_ENST00000533213.2_Missense_Mutation_p.L10F	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	0					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)			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)		GGGTCCGTGAGCTCAGTCATT	0.463																																						ENST00000369252.4																			0				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.(28-30)Ctc>Ttc		actin binding LIM protein 1							206.0	165.0	179.0					10																	116444085		2203	4300	6503	SO:0001583	missense	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116444085G>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	ENST00000369252.4:c.28C>T	10.37:g.116444085G>A	ENSP00000358256:p.Leu10Phe					ABLIM1_ENST00000533213.2_Missense_Mutation_p.L10F	p.L10F	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	1	329	-		Colorectal(252;0.0373)|Breast(234;0.231)	0					A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000369252.4	37	c.28C>T	CCDS31288.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.609503	0.28623	.	.	ENSG00000099204	ENST00000369252;ENST00000369267;ENST00000533213	T;T	0.28069	1.63;1.63	5.87	3.94	0.45596	.	.	.	.	.	T	0.14570	0.0352	N	0.08118	0	0.25237	N	0.989784	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.28902	-1.0029	9	0.18710	T	0.47	.	7.6005	0.28073	0.0929:0.1705:0.7367:0.0	.	10;10;10	F8W8M4;A6NKJ2;B3KVH2	.;.;.	F	10	ENSP00000358256:L10F;ENSP00000433629:L10F	ENSP00000358256:L10F	L	-	1	0	ABLIM1	116434075	0.832000	0.29368	0.055000	0.19348	0.676000	0.39594	1.540000	0.36115	0.854000	0.35336	0.655000	0.94253	CTC		0.463	ABLIM1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				98	246	0	0	0	1	0	98	246				
CPB1	1360	broad.mit.edu	37	3	148563350	148563350	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:148563350C>A	ENST00000491148.1	+	10	1252	c.918C>A	c.(916-918)taC>taA	p.Y306*	CPB1_ENST00000282957.4_Nonsense_Mutation_p.Y306*			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	306						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TCCACTCGTACTCCCAAATGA	0.443																																						ENST00000491148.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(916-918)taC>taA		carboxypeptidase B1 (tissue)							143.0	136.0	138.0					3																	148563350		2203	4300	6503	SO:0001587	stop_gained	1360				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148563350C>A	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.918C>A	3.37:g.148563350C>A	ENSP00000417222:p.Tyr306*					CPB1_ENST00000282957.4_Nonsense_Mutation_p.Y306*	p.Y306*			P15086	CBPB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		10	1252	+			306					O60834|Q53XJ0|Q96BQ8	Nonsense_Mutation	SNP	ENST00000491148.1	37	c.918C>A	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.903423	0.52333	.	.	ENSG00000153002	ENST00000491148;ENST00000282957	.	.	.	5.69	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.7299	0.08489	0.0:0.662:0.0:0.338	.	.	.	.	X	306	.	ENSP00000282957:Y306X	Y	+	3	2	CPB1	150046040	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	2.436000	0.44819	2.677000	0.91161	0.655000	0.94253	TAC		0.443	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871		213	342	1	0	5.28774e-85	1	6.0007e-85	213	342				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		54	52	0	0	0	1	0	54	52				
CDH8	1006	broad.mit.edu	37	16	61851519	61851519	+	Missense_Mutation	SNP	C	C	T	rs375557193		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr16:61851519C>T	ENST00000577390.1	-	7	2095	c.1141G>A	c.(1141-1143)Gtg>Atg	p.V381M	CDH8_ENST00000577730.1_Missense_Mutation_p.V381M|CDH8_ENST00000584337.1_Missense_Mutation_p.V381M|CDH8_ENST00000299345.6_Missense_Mutation_p.V381M	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	381	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCTTCAACCACGATTTTGACT	0.483													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15370	0.0		0.0	False		,,,				2504	0.0					ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(1141-1143)Gtg>Atg		cadherin 8, type 2		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	107.0	87.0	94.0		1141	6.2	0.9	16		94	0,8600		0,0,4300	no	missense	CDH8	NM_001796.4	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	381/800	61851519	1,13005	2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61851519C>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1141G>A	16.37:g.61851519C>T	ENSP00000462701:p.Val381Met					CDH8_ENST00000584337.1_Missense_Mutation_p.V381M|CDH8_ENST00000577730.1_Missense_Mutation_p.V381M|CDH8_ENST00000299345.6_Missense_Mutation_p.V381M	p.V381M	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	7	2095	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	381			Cadherin 3.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.1141G>A	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939496	0.34189	2.27E-4	0.0	ENSG00000150394	ENST00000299345	T	0.01838	4.61	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.275056	0.41605	D	0.000854	T	0.04497	0.0123	N	0.16567	0.415	0.37077	D	0.89879	D;B	0.69078	0.997;0.232	P;B	0.58454	0.839;0.095	T	0.55630	-0.8111	10	0.49607	T	0.09	.	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	197;381	Q3LID3;P55286	.;CADH8_HUMAN	M	381	ENSP00000299345:V381M	ENSP00000299345:V381M	V	-	1	0	CDH8	60409020	0.074000	0.21230	0.851000	0.33527	0.731000	0.41821	1.447000	0.35101	2.941000	0.99782	0.655000	0.94253	GTG		0.483	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		82	228	0	0	0	1	0	82	228				
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs200214744|rs565505867	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662																																						ENST00000391413.2																			4	Substitution - Missense(4)	p.M93V(4)	endometrium(3)|kidney(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(277-279)Atg>Gtg		keratin associated protein 4-11							6.0	10.0	8.0					17																	39274291		651	1556	2207	SO:0001583	missense	653240					keratin filament		g.chr17:39274291T>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.277A>G	17.37:g.39274291T>C	ENSP00000375232:p.Met93Val						p.M93V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	315	-		Breast(137;0.000496)	93			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.277A>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	0.073	-1.199029	0.01581	.	.	ENSG00000212721	ENST00000391413	T	0.00580	6.43	4.25	-4.9	0.03094	.	.	.	.	.	T	0.00109	0.0003	N	0.00040	-2.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43097	-0.9412	9	0.02654	T	1	.	0.4739	0.00536	0.3479:0.2455:0.1203:0.2863	.	93	Q9BYQ6	KR411_HUMAN	V	93	ENSP00000375232:M93V	ENSP00000375232:M93V	M	-	1	0	KRTAP4-11	36527817	.	.	0.012000	0.15200	0.010000	0.07245	.	.	-1.319000	0.02286	-1.132000	0.01976	ATG		0.662	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			10	274	0	0	0	1	0	10	274				
ST8SIA6	338596	broad.mit.edu	37	10	17363216	17363216	+	Silent	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr10:17363216C>T	ENST00000377602.4	-	8	932	c.858G>A	c.(856-858)acG>acA	p.T286T		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	286					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						ACTCTTCGAGCGTGTAGTATA	0.433																																						ENST00000377602.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						c.(856-858)acG>acA		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6							139.0	146.0	144.0					10																	17363216		2203	4300	6503	SO:0001819	synonymous_variant	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17363216C>T		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.858G>A	10.37:g.17363216C>T							p.T286T	NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN			8	932	-			286					B0YJ97|B9EH72|Q5VZH4	Silent	SNP	ENST00000377602.4	37	c.858G>A	CCDS31158.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.420576	0.01136	.	.	ENSG00000148488	ENST00000440449	.	.	.	5.18	-7.5	0.01351	.	.	.	.	.	T	0.30978	0.0782	.	.	.	0.32113	N	0.589013	.	.	.	.	.	.	T	0.36359	-0.9751	4	.	.	.	0.8831	5.9037	0.18980	0.2924:0.3042:0.0:0.4034	.	.	.	.	T	107	.	.	A	-	1	0	ST8SIA6	17403222	0.002000	0.14202	0.002000	0.10522	0.018000	0.09664	-1.684000	0.01932	-1.523000	0.01767	-1.154000	0.01816	GCT		0.433	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		182	1247	0	0	0	1	0	182	1247				
LINC00969	440993	broad.mit.edu	37	3	195400799	195400799	+	lincRNA	SNP	G	G	A	rs7635172		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:195400799G>A	ENST00000445430.1	+	0	1395									long intergenic non-protein coding RNA 969																		CAAACTCGCTGTTGGACCTGG	0.597																																						ENST00000445430.1																			0																																																			0							g.chr3:195400799G>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400799G>A														0	1395	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.597	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			27	283	0	0	0	1	0	27	283				
HERC2	8924	broad.mit.edu	37	15	28459392	28459392	+	Missense_Mutation	SNP	G	G	A	rs138059246	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr15:28459392G>A	ENST00000261609.7	-	41	6493	c.6385C>T	c.(6385-6387)Cgc>Tgc	p.R2129C		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCCTGCGGGCGCACCCTGCGC	0.667																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(6385-6387)Cgc>Tgc		HECT and RLD domain containing E3 ubiquitin protein ligase 2							25.0	26.0	25.0					15																	28459392		2195	4292	6487	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28459392G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.6385C>T	15.37:g.28459392G>A	ENSP00000261609:p.Arg2129Cys						p.R2129C	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	41	6493	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2129						Missense_Mutation	SNP	ENST00000261609.7	37	c.6385C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.944883	0.53079	.	.	ENSG00000128731	ENST00000261609	T	0.41400	1.0	4.75	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.53594	0.1806	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.55866	-0.8073	10	0.72032	D	0.01	.	12.4051	0.55434	0.0:0.0:0.7652:0.2348	.	2129	O95714	HERC2_HUMAN	C	2129	ENSP00000261609:R2129C	ENSP00000261609:R2129C	R	-	1	0	HERC2	26132987	1.000000	0.71417	0.956000	0.39512	0.126000	0.20510	3.130000	0.50508	2.461000	0.83175	0.484000	0.47621	CGC		0.667	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		10	205	0	0	0	1	0	10	205				
PRSS3P2	154754	broad.mit.edu	37	7	142479940	142479940	+	RNA	SNP	C	C	T	rs58649169	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr7:142479940C>T	ENST00000603901.1	+	0	72					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										ATGACAAGATCGTTGGGGGCT	0.557													c|||	4427	0.883986	0.7814	0.9452	5008	,	,		10861	0.8641		0.9642	False		,,,				2504	0.9172					ENST00000603901.1																			0																				103.0	70.0	80.0					7																	142479940		692	1590	2282			0							g.chr7:142479940C>T			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142479940C>T								NR_001296.3						0	72	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.557	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		12	259	0	0	0	1	0	12	259				
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53							151.0	112.0	125.0					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577539G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W	p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	874	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		72	132	0	0	0	1	0	72	132				
LOC653786	653786	broad.mit.edu	37	16	22588087	22588087	+	RNA	SNP	G	G	C	rs371946225	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr16:22588087G>C	ENST00000550753.1	+	0	2562					NR_003676.2																						GTGGGACACCGTTCCCTGGAT	0.522																																						ENST00000550753.1																			0																																																			0							g.chr16:22588087G>C																													16.37:g.22588087G>C								NR_003676.2						0	2562	+									RNA	SNP	ENST00000550753.1	37																																																																																						0.522	RP11-368J21.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409041.1			13	141	0	0	0	1	0	13	141				
OR2M3	127062	broad.mit.edu	37	1	248366501	248366501	+	Silent	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:248366501C>T	ENST00000456743.1	+	1	170	c.132C>T	c.(130-132)gtC>gtT	p.V44V		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GAAACTCTGTCATGGTTCTCC	0.547																																						ENST00000456743.1																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(130-132)gtC>gtT		olfactory receptor, family 2, subfamily M, member 3							253.0	245.0	248.0					1																	248366501		2203	4298	6501	SO:0001819	synonymous_variant	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366501C>T		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.132C>T	1.37:g.248366501C>T							p.V44V	NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	170	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		44					B9EH06|Q6IEY0	Silent	SNP	ENST00000456743.1	37	c.132C>T	CCDS31107.1																																																																																				0.547	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		364	1694	0	0	0	1	0	364	1694				
LINC00969	440993	broad.mit.edu	37	3	195400822	195400822	+	lincRNA	SNP	G	G	A	rs56170658		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:195400822G>A	ENST00000445430.1	+	0	1418									long intergenic non-protein coding RNA 969																		GTCTGGTCAGGCATGTGCCCT	0.572																																						ENST00000445430.1																			0																																																			0							g.chr3:195400822G>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400822G>A														0	1418	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.572	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			15	225	0	0	0	1	0	15	225				
CYP11A1	1583	broad.mit.edu	37	15	74636261	74636261	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr15:74636261A>G	ENST00000268053.6	-	4	852	c.698T>C	c.(697-699)tTc>tCc	p.F233S	CYP11A1_ENST00000419019.2_Missense_Mutation_p.F75S|CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000358632.4_Missense_Mutation_p.F75S	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	233					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	GGCATCAATGAATCGCTGGGC	0.572																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	ENST00000358632.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(223-225)tTc>tCc		cytochrome P450, family 11, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)						147.0	138.0	141.0					15																	74636261		2197	4296	6493	SO:0001583	missense	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74636261A>G	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.698T>C	15.37:g.74636261A>G	ENSP00000268053:p.Phe233Ser					CYP11A1_ENST00000419019.2_Missense_Mutation_p.F75S|CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000268053.6_Missense_Mutation_p.F233S	p.F75S	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN			4	919	-			233					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	37	c.224T>C	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.304450	0.60305	.	.	ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000450547	T;T;T	0.71461	-0.57;-0.57;-0.57	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	D	0.85965	0.5820	M	0.89658	3.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.88863	0.3327	10	0.87932	D	0	-18.212	13.221	0.59887	1.0:0.0:0.0:0.0	.	203;233	B4DTE5;P05108	.;CP11A_HUMAN	S	233;75;75;145	ENSP00000268053:F233S;ENSP00000351455:F75S;ENSP00000405488:F75S	ENSP00000268053:F233S	F	-	2	0	CYP11A1	72423314	1.000000	0.71417	0.972000	0.41901	0.164000	0.22412	8.511000	0.90535	1.617000	0.50277	0.439000	0.28862	TTC		0.572	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			177	248	0	0	0	1	0	177	248				
IFNL2	282616	broad.mit.edu	37	19	39760163	39760163	+	Silent	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr19:39760163G>A	ENST00000331982.5	+	4	361	c.306G>A	c.(304-306)ctG>ctA	p.L102L		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	102					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											AGGCTGAGCTGGCCCTGACGC	0.632																																						ENST00000331982.5																			0											c.(304-306)ctG>ctA		interferon, lambda 2							41.0	46.0	44.0					19																	39760163		2203	4300	6503	SO:0001819	synonymous_variant	282616							g.chr19:39760163G>A	AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"""Interferons"""	18364	protein-coding gene	gene with protein product		607401	"""interleukin 28A"", ""interleukin 28A (interferon, lambda 2)"""	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.306G>A	19.37:g.39760163G>A							p.L102L	NM_172138.1	NP_742150.1					4	361	+								Q45KQ8|Q6VN55|Q8IWL7	Silent	SNP	ENST00000331982.5	37	c.306G>A	CCDS42567.1																																																																																				0.632	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463833.1	NM_172138		203	229	0	0	0	1	0	203	229				
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50.0	48.0	49.0					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		7	213	0	0	0	1	0	7	213				
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	40								p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I40T(4)	prostate(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(118-120)aTc>aCc																																						SO:0001583	missense	0							g.chr20:29625875T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.119T>C	20.37:g.29625875T>C	ENSP00000278882:p.Ile40Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T	p.I40T							5	499	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.119T>C		.	.	.	.	.	.	.	.	.	.	t	10.51	1.369778	0.24771	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.51071	0.72	1.68	1.68	0.24146	.	0.052751	0.64402	D	0.000001	T	0.59865	0.2225	.	.	.	0.51482	D	0.999924	P	0.49862	0.929	D	0.64687	0.928	T	0.59386	-0.7464	9	0.52906	T	0.07	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	45	F5H5R5	.	T	40;45;40	ENSP00000408863:I45T	ENSP00000278882:I40T	I	+	2	0	FRG1B	28239536	1.000000	0.71417	0.982000	0.44146	0.025000	0.11179	6.565000	0.73974	1.028000	0.39785	0.155000	0.16302	ATC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		14	448	0	0	0	1	0	14	448				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			0							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			9	338	0	0	0	1	0	9	338				
ALDH1L1	10840	broad.mit.edu	37	3	125876347	125876347	+	Missense_Mutation	SNP	G	G	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr3:125876347G>C	ENST00000393434.2	-	4	716	c.367C>G	c.(367-369)Ctc>Gtc	p.L123V	ALDH1L1_ENST00000393431.2_Missense_Mutation_p.L123V|U1_ENST00000606575.1_RNA|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.L133V|ALDH1L1_ENST00000413612.1_5'Flank|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.L123V|ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000452905.2_Intron	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	123	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCGTGAATGAGGGTCCTAGGA	0.597																																						ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(367-369)Ctc>Gtc		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						85.0	88.0	87.0					3																	125876347		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125876347G>C	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.367C>G	3.37:g.125876347G>C	ENSP00000377083:p.Leu123Val					ALDH1L1_ENST00000273450.3_Missense_Mutation_p.L133V|ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.L123V|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.L123V	p.L123V	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	4	716	-			123			GART.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.367C>G	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953044	0.73902	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000393434;ENST00000393431;ENST00000490367;ENST00000460368;ENST00000488356	T;T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	4.39	4.39	0.52855	Formyl transferase, N-terminal (3);	0.000000	0.64402	D	0.000002	D	0.86289	0.5897	L	0.55481	1.735	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.68353	0.957;0.951;0.957	D	0.87817	0.2635	10	0.87932	D	0	.	14.4889	0.67637	0.0:0.0:1.0:0.0	.	175;30;123	Q59G10;Q9UFA9;O75891	.;.;AL1L1_HUMAN	V	133;123;123;123;123;123;123	ENSP00000273450:L133V;ENSP00000420293:L123V;ENSP00000377083:L123V;ENSP00000377081:L123V;ENSP00000418711:L123V;ENSP00000419826:L123V;ENSP00000419955:L123V	ENSP00000273450:L133V	L	-	1	0	ALDH1L1	127359037	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	5.858000	0.69532	2.277000	0.76020	0.467000	0.42956	CTC		0.597	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		112	402	0	0	0	1	0	112	402				
ZNF676	163223	broad.mit.edu	37	19	22362994	22362994	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr19:22362994C>A	ENST00000397121.2	-	3	1842	c.1525G>T	c.(1525-1527)Gaa>Taa	p.E509*		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	509					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTGCCACATTCTTCACATTTG	0.388																																						ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(1525-1527)Gaa>Taa		zinc finger protein 676							64.0	68.0	67.0					19																	22362994		2156	4276	6432	SO:0001587	stop_gained	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22362994C>A	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1525G>T	19.37:g.22362994C>A	ENSP00000380310:p.Glu509*						p.E509*	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	1842	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	509					A8MVX5	Nonsense_Mutation	SNP	ENST00000397121.2	37	c.1525G>T	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	23.9	4.466068	0.84425	.	.	ENSG00000196109	ENST00000397121	.	.	.	0.81	-1.62	0.08372	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	7.3206	0.26526	0.0:0.7253:0.2747:0.0	.	.	.	.	X	509	.	ENSP00000380310:E509X	E	-	1	0	ZNF676	22154834	0.000000	0.05858	0.086000	0.20670	0.086000	0.17979	-0.518000	0.06267	0.181000	0.19994	0.184000	0.17185	GAA		0.388	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		83	270	1	0	2.17451e-35	1	2.42446e-35	83	270				
ZNF629	23361	broad.mit.edu	37	16	30793072	30793072	+	Silent	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr16:30793072G>A	ENST00000262525.4	-	3	2784	c.2577C>T	c.(2575-2577)ctC>ctT	p.L859L	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	859					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AGCTCCTATGGAGCAGGAGGG	0.572																																						ENST00000262525.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(2575-2577)ctC>ctT		zinc finger protein 629							33.0	36.0	35.0					16																	30793072		1841	4100	5941	SO:0001819	synonymous_variant	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30793072G>A	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.2577C>T	16.37:g.30793072G>A							p.L859L	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	2784	-			859					Q15938	Silent	SNP	ENST00000262525.4	37	c.2577C>T	CCDS45463.1																																																																																				0.572	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		99	198	0	0	0	1	0	99	198				
LINC00969	440993	broad.mit.edu	37	3	195398250	195398250	+	lincRNA	SNP	C	C	A	rs80193871		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr3:195398250C>A	ENST00000445430.1	+	0	1088									long intergenic non-protein coding RNA 969																		GCACCGCTCGCCCTCACCTTC	0.572																																						ENST00000445430.1																			0																																																			0							g.chr3:195398250C>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195398250C>A														0	1088	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.572	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			34	280	1	0	2.29192e-23	1	2.49793e-23	34	280				
SMG1	23049	broad.mit.edu	37	16	18887699	18887699	+	Missense_Mutation	SNP	T	T	C	rs376234691		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr16:18887699T>C	ENST00000446231.2	-	13	2049	c.1637A>G	c.(1636-1638)cAt>cGt	p.H546R	SMG1_ENST00000389467.3_Missense_Mutation_p.H546R|SMG1_ENST00000565224.1_Missense_Mutation_p.H520R			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	546	Interaction with SMG8 and SMG9.		H -> R. {ECO:0000269|PubMed:17344846}.		DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.H542R(2)|p.H546R(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATAAACAGCATGGGCTACAGC	0.333																																						ENST00000446231.2																			3	Substitution - Missense(3)	p.H542R(2)|p.H546R(1)	kidney(2)|skin(1)	NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(1636-1638)cAt>cGt		SMG1 phosphatidylinositol 3-kinase-related kinase							16.0	14.0	14.0					16																	18887699		1793	4006	5799	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18887699T>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.1637A>G	16.37:g.18887699T>C	ENSP00000402515:p.His546Arg					SMG1_ENST00000565224.1_Missense_Mutation_p.H520R|SMG1_ENST00000389467.3_Missense_Mutation_p.H546R	p.H546R			Q96Q15	SMG1_HUMAN			13	2049	-			546		H -> R.	Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.1637A>G	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	T	14.49	2.550408	0.45383	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01076	5.37;5.37	5.49	5.49	0.81192	Armadillo-type fold (1);	0.000000	0.64402	U	0.000003	T	0.01124	0.0037	N	0.24115	0.695	0.38158	D	0.938958	B	0.26445	0.149	B	0.24541	0.054	T	0.66618	-0.5878	10	0.25106	T	0.35	.	11.8709	0.52519	0.1306:0.0:0.0:0.8694	.	546	Q96Q15	SMG1_HUMAN	R	546	ENSP00000402515:H546R;ENSP00000374118:H546R	ENSP00000374118:H546R	H	-	2	0	SMG1	18795200	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.089000	0.57685	2.073000	0.62155	0.402000	0.26972	CAT		0.333	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		8	126	0	0	0	1	0	8	126				
CPO	130749	broad.mit.edu	37	2	207827279	207827279	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr2:207827279C>A	ENST00000272852.3	+	7	764	c.718C>A	c.(718-720)Cag>Aag	p.Q240K		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	240						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CTCTTATGGGCAGTTAATTCT	0.458																																						ENST00000272852.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14						c.(718-720)Cag>Aag		carboxypeptidase O							200.0	187.0	192.0					2																	207827279		2203	4300	6503	SO:0001583	missense	130749				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr2:207827279C>A		CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"""metallocarboxypeptidase O"", ""metallocarboxypeptidase C"""	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.718C>A	2.37:g.207827279C>A	ENSP00000272852:p.Gln240Lys						p.Q240K	NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)	7	764	+			240					Q2M277|Q7RTW7	Missense_Mutation	SNP	ENST00000272852.3	37	c.718C>A	CCDS2372.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667939	0.88348	.	.	ENSG00000144410	ENST00000272852	T	0.33654	1.4	5.5	5.5	0.81552	Peptidase M14, carboxypeptidase A (3);	0.000000	0.85682	D	0.000000	T	0.67154	0.2863	M	0.89095	3.005	0.49582	D	0.999805	D	0.76494	0.999	D	0.87578	0.998	T	0.72574	-0.4252	10	0.87932	D	0	.	16.9428	0.86222	0.0:1.0:0.0:0.0	.	240	Q8IVL8	CBPO_HUMAN	K	240	ENSP00000272852:Q240K	ENSP00000272852:Q240K	Q	+	1	0	CPO	207535524	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	7.009000	0.76347	2.868000	0.98415	0.555000	0.69702	CAG		0.458	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	NM_173077		158	666	1	0	1.12709e-80	1	1.3172e-80	158	666				
HERC2P2	400322	broad.mit.edu	37	15	23311909	23311909	+	RNA	SNP	T	T	G			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr15:23311909T>G	ENST00000560464.1	-	0	3266									hect domain and RLD 2 pseudogene 2																		AGACGGCCACTCACCTCTGAG	0.642																																						ENST00000560464.1																			0																																																			0							g.chr15:23311909T>G	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23311909T>G														0	3266	-									RNA	SNP	ENST00000560464.1	37																																																																																						0.642	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			9	61	0	0	0	1	0	9	61				
FAM180A	389558	broad.mit.edu	37	7	135418752	135418752	+	Missense_Mutation	SNP	G	G	A	rs554135792		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr7:135418752G>A	ENST00000338588.3	-	3	758	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	FAM180A_ENST00000435869.1_Intron|FAM180A_ENST00000415751.1_Missense_Mutation_p.R165C	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	165						extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						TGTGAGGAGCGCATCAAGTCG	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		20056	0.0		0.0	False		,,,				2504	0.001					ENST00000338588.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						c.(493-495)Cgc>Tgc		family with sequence similarity 180, member A							67.0	59.0	62.0					7																	135418752		2203	4300	6503	SO:0001583	missense	389558					extracellular region		g.chr7:135418752G>A	AC091736, AK290250, AK310180, AY358803	CCDS5841.1	7q33	2008-07-25			ENSG00000189320	ENSG00000189320			33773	protein-coding gene	gene with protein product						12975309, 12690205	Standard	NM_205855		Approved	HWKM1940, UNQ1940	uc003vtd.3	Q6UWF9	OTTHUMG00000155537	ENST00000338588.3:c.493C>T	7.37:g.135418752G>A	ENSP00000342336:p.Arg165Cys					FAM180A_ENST00000415751.1_Missense_Mutation_p.R165C	p.R165C	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN			3	758	-			165					B2RP85	Missense_Mutation	SNP	ENST00000338588.3	37	c.493C>T	CCDS5841.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803009	0.70682	.	.	ENSG00000189320	ENST00000338588;ENST00000415751	T;T	0.32753	1.44;1.44	5.65	3.64	0.41730	.	0.844010	0.10623	N	0.653115	T	0.40398	0.1115	L	0.44542	1.39	0.41549	D	0.988564	D	0.65815	0.995	P	0.53861	0.736	T	0.26326	-1.0106	10	0.72032	D	0.01	-22.9136	12.1672	0.54138	0.0:0.0:0.6799:0.3201	.	165	Q6UWF9	F180A_HUMAN	C	165	ENSP00000342336:R165C;ENSP00000395467:R165C	ENSP00000342336:R165C	R	-	1	0	FAM180A	135069292	0.904000	0.30761	0.945000	0.38365	0.922000	0.55478	1.270000	0.33086	1.375000	0.46248	0.561000	0.74099	CGC		0.597	FAM180A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340554.2	NM_205855		47	156	0	0	0	1	0	47	156				
EPB41L3	23136	broad.mit.edu	37	18	5398076	5398076	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr18:5398076G>A	ENST00000341928.2	-	17	2756	c.2416C>T	c.(2416-2418)Cga>Tga	p.R806*	EPB41L3_ENST00000427684.2_Nonsense_Mutation_p.R103*|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.R806*|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.R637*|EPB41L3_ENST00000542146.1_Nonsense_Mutation_p.R111*|EPB41L3_ENST00000542652.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	806	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GTTGGTTTTCGCGCAGACTCT	0.453																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2416-2418)Cga>Tga		erythrocyte membrane protein band 4.1-like 3							225.0	231.0	229.0					18																	5398076		2203	4300	6503	SO:0001587	stop_gained	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5398076G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2416C>T	18.37:g.5398076G>A	ENSP00000343158:p.Arg806*					EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.R637*|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.R806*|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Nonsense_Mutation_p.R103*|EPB41L3_ENST00000542146.1_Nonsense_Mutation_p.R111*|EPB41L3_ENST00000400111.3_Intron	p.R806*	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			17	2756	-			806			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Nonsense_Mutation	SNP	ENST00000341928.2	37	c.2416C>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	40	8.140571	0.98672	.	.	ENSG00000082397	ENST00000341928;ENST00000544123;ENST00000427684;ENST00000542146;ENST00000342933	.	.	.	6.17	2.8	0.32819	.	0.352659	0.33477	N	0.004861	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8014	0.78456	0.0:0.0:0.1619:0.8381	.	.	.	.	X	806;637;103;111;806	.	ENSP00000343158:R806X	R	-	1	2	EPB41L3	5388076	0.996000	0.38824	0.129000	0.21949	0.981000	0.71138	3.424000	0.52764	0.287000	0.22375	0.655000	0.94253	CGA		0.453	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		396	934	0	0	0	1	0	396	934				
SPECC1L	23384	broad.mit.edu	37	22	24717438	24717438	+	Missense_Mutation	SNP	G	G	A	rs200866362		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr22:24717438G>A	ENST00000314328.9	+	5	775	c.490G>A	c.(490-492)Gtt>Att	p.V164I	SPECC1L_ENST00000437398.1_Missense_Mutation_p.V164I|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.V164I|SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000541492.1_Missense_Mutation_p.V164I	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	164					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AGAATGTGACGTTCGTATGAG	0.478																																						ENST00000314328.9																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(490-492)Gtt>Att		sperm antigen with calponin homology and coiled-coil domains 1-like							106.0	96.0	100.0					22																	24717438		2203	4300	6503	SO:0001583	missense	23384				cell cycle|cell division			g.chr22:24717438G>A	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.490G>A	22.37:g.24717438G>A	ENSP00000325785:p.Val164Ile					KB-1896H10.1_ENST00000358654.2_Missense_Mutation_p.V164I|SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000541492.1_Missense_Mutation_p.V164I|SPECC1L_ENST00000437398.1_Missense_Mutation_p.V164I	p.V164I	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN			5	775	+			164					B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	ENST00000314328.9	37	c.490G>A	CCDS33619.1	.	.	.	.	.	.	.	.	.	.	G	5.588	0.293367	0.10567	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492;ENST00000440893	T;T;T;T;T	0.59224	0.28;2.77;0.28;3.29;0.97	5.72	2.48	0.30137	.	0.355674	0.31051	N	0.008356	T	0.34048	0.0884	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.14924	-1.0455	10	0.22109	T	0.4	-8.1952	7.4816	0.27408	0.3615:0.0:0.6385:0.0	.	164;164	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	I	192;164;164;164;164;103	ENSP00000393363:V164I;ENSP00000405671:V164I;ENSP00000325785:V164I;ENSP00000439633:V164I;ENSP00000414354:V103I	ENSP00000325785:V164I	V	+	1	0	SPECC1L	23047438	0.128000	0.22383	0.202000	0.23494	0.790000	0.44656	0.605000	0.24179	0.346000	0.23899	-0.145000	0.13849	GTT		0.478	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330		144	318	0	0	0	1	0	144	318				
ST8SIA6	338596	broad.mit.edu	37	10	17363216	17363216	+	Silent	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr10:17363216C>T	ENST00000377602.4	-	8	932	c.858G>A	c.(856-858)acG>acA	p.T286T		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	286					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						ACTCTTCGAGCGTGTAGTATA	0.433																																						ENST00000377602.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						c.(856-858)acG>acA		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6							139.0	146.0	144.0					10																	17363216		2203	4300	6503	SO:0001819	synonymous_variant	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17363216C>T		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.858G>A	10.37:g.17363216C>T							p.T286T	NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN			8	932	-			286					B0YJ97|B9EH72|Q5VZH4	Silent	SNP	ENST00000377602.4	37	c.858G>A	CCDS31158.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.420576	0.01136	.	.	ENSG00000148488	ENST00000440449	.	.	.	5.18	-7.5	0.01351	.	.	.	.	.	T	0.30978	0.0782	.	.	.	0.32113	N	0.589013	.	.	.	.	.	.	T	0.36359	-0.9751	4	.	.	.	0.8831	5.9037	0.18980	0.2924:0.3042:0.0:0.4034	.	.	.	.	T	107	.	.	A	-	1	0	ST8SIA6	17403222	0.002000	0.14202	0.002000	0.10522	0.018000	0.09664	-1.684000	0.01932	-1.523000	0.01767	-1.154000	0.01816	GCT		0.433	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		182	1247	0	0	0	1	0	182	1247				
OR2A5	393046	broad.mit.edu	37	7	143747854	143747854	+	Silent	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr7:143747854C>T	ENST00000408906.2	+	1	394	c.360C>T	c.(358-360)taC>taT	p.Y120Y		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGATGTCCTACGATCGGTACA	0.468																																						ENST00000408906.2																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38						c.(358-360)taC>taT		olfactory receptor, family 2, subfamily A, member 5							176.0	176.0	176.0					7																	143747854		2106	4248	6354	SO:0001819	synonymous_variant	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143747854C>T	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.360C>T	7.37:g.143747854C>T							p.Y120Y	NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN			1	394	+	Melanoma(164;0.0783)		120					B9EGX2|O43885|O43888	Silent	SNP	ENST00000408906.2	37	c.360C>T	CCDS43668.1																																																																																				0.468	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			309	642	0	0	0	1	0	309	642				
OTOP1	133060	broad.mit.edu	37	4	4228226	4228226	+	Silent	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr4:4228226G>A	ENST00000296358.4	-	1	390	c.366C>T	c.(364-366)cgC>cgT	p.R122R		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	122					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.R122R(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGTCCTTGAGGCGGAAGAGGC	0.716																																						ENST00000296358.4																			2	Substitution - coding silent(2)	p.R122R(2)	prostate(1)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(364-366)cgC>cgT		otopetrin 1							5.0	6.0	6.0					4																	4228226		1619	3562	5181	SO:0001819	synonymous_variant	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4228226G>A	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.366C>T	4.37:g.4228226G>A							p.R122R	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	1	390	-			122					A1L476	Silent	SNP	ENST00000296358.4	37	c.366C>T	CCDS3372.1																																																																																				0.716	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		6	69	0	0	0	1	0	6	69				
RP11-24M17.5	0	broad.mit.edu	37	15	76067987	76067987	+	RNA	SNP	A	A	G	rs34243492	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr15:76067987A>G	ENST00000395215.3	+	0	94																											GAAGAAACTCAACAGAGTAAA	0.537													.|||	1247	0.249002	0.149	0.3602	5008	,	,		15530	0.2391		0.3042	False		,,,				2504	0.2587					ENST00000395215.3																			0																																																			0							g.chr15:76067987A>G																													15.37:g.76067987A>G														0	94	+									RNA	SNP	ENST00000395215.3	37			549	0.25137362637362637	74	0.15040650406504066	119	0.3287292817679558	117	0.20454545454545456	239	0.3153034300791557	.	6.719	0.501314	0.12822	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.756	0.756	0.18421	.	.	.	.	.	T	0.00012	0.0000	.	.	.	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.38520	-0.9657	6	0.02654	T	1	.	5.3043	0.15795	0.2401:0.0:0.7599:0.0	rs34243492	18	B4DZE6	.	R	18	.	ENSP00000378641:Q18R	Q	+	2	0	AC019294.2	73855042	1.000000	0.71417	0.718000	0.30602	0.025000	0.11179	3.368000	0.52357	-0.118000	0.11851	-1.680000	0.00737	CAA		0.537	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			6	160	0	0	0	1	0	6	160				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			9	130	0	0	0	1	0	9	130				
WNT7B	7477	broad.mit.edu	37	22	46327243	46327243	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr22:46327243C>T	ENST00000339464.4	-	3	679	c.305G>A	c.(304-306)cGt>cAt	p.R102H	WNT7B_ENST00000410089.1_Missense_Mutation_p.R86H|WNT7B_ENST00000409496.3_Missense_Mutation_p.R106H|WNT7B_ENST00000410058.1_Missense_Mutation_p.R102H	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	102					activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		GGCAGCCTCACGGCTCCCTGC	0.701																																						ENST00000339464.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19						c.(304-306)cGt>cAt		wingless-type MMTV integration site family, member 7B							18.0	18.0	18.0					22																	46327243		2201	4298	6499	SO:0001583	missense	7477				activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity	g.chr22:46327243C>T	AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12787	protein-coding gene	gene with protein product		601967				8168088, 9284940, 11562755	Standard	NM_058238		Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000339464.4:c.305G>A	22.37:g.46327243C>T	ENSP00000341032:p.Arg102His					WNT7B_ENST00000409496.3_Missense_Mutation_p.R106H|WNT7B_ENST00000410058.1_Missense_Mutation_p.R102H|WNT7B_ENST00000410089.1_Missense_Mutation_p.R86H	p.R102H	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)	3	679	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	102					B8A596|Q96Q12	Missense_Mutation	SNP	ENST00000339464.4	37	c.305G>A	CCDS33667.1	.	.	.	.	.	.	.	.	.	.	c	20.9	4.061673	0.76187	.	.	ENSG00000188064	ENST00000339464;ENST00000410089;ENST00000409496;ENST00000410058;ENST00000428540	D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5	3.34	3.34	0.38264	.	0.000000	0.64402	U	0.000001	D	0.91536	0.7327	H	0.95982	3.75	0.51767	D	0.99993	D;D	0.63880	0.977;0.993	P;P	0.62491	0.839;0.903	D	0.94130	0.7387	10	0.87932	D	0	.	13.8568	0.63531	0.0:1.0:0.0:0.0	.	106;102	A8K0G1;P56706	.;WNT7B_HUMAN	H	102;86;106;102;35	ENSP00000341032:R102H;ENSP00000386781:R86H;ENSP00000386546:R106H;ENSP00000387217:R102H;ENSP00000392750:R35H	ENSP00000341032:R102H	R	-	2	0	WNT7B	44705907	1.000000	0.71417	0.860000	0.33809	0.904000	0.53231	4.484000	0.60271	1.709000	0.51313	0.461000	0.40582	CGT		0.701	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336418.1	NM_058238		49	116	0	0	0	1	0	49	116				
KRT6A	3853	broad.mit.edu	37	12	52885509	52885509	+	Silent	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr12:52885509C>T	ENST00000330722.6	-	2	620	c.552G>A	c.(550-552)ctG>ctA	p.L184L		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	184	Coil 1A.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTGCTGCTCCAGGAACCGCA	0.537																																						ENST00000330722.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(550-552)ctG>ctA		keratin 6A							54.0	54.0	54.0					12																	52885509		2203	4300	6503	SO:0001819	synonymous_variant	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52885509C>T	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.552G>A	12.37:g.52885509C>T							p.L184L	NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	620	-			184			Coil 1A.|Rod.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Silent	SNP	ENST00000330722.6	37	c.552G>A	CCDS41786.1																																																																																				0.537	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		14	452	0	0	0	1	0	14	452				
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Intron	SNP	C	C	T	rs568909748	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr17:15441469C>T	ENST00000225576.3	-	5	558				TVP23C_ENST00000583206.1_5'Flank|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000584811.1_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TCCAGTGTTCCGCAAAAGACA	0.393													c|||	3	0.000599042	0.0015	0.0	5008	,	,		17476	0.001		0.0	False		,,,				2504	0.0					ENST00000584811.1																			0											c.e7-2		trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																																				SO:0001627	intron_variant	201158							g.chr17:15441469C>T	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+7629G>A	17.37:g.15441469C>T						TVP23C_ENST00000438826.3_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000225576.3_Intron								7	1815	-								Q3LIC7	Splice_Site	SNP	ENST00000225576.3	37		CCDS11170.1	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280351	0.40294	.	.	ENSG00000175106	ENST00000438826	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0583	0.25111	0.0:0.1033:0.0:0.8967	.	.	.	.	.	-1	.	.	.	-	.	.	FAM18B2	15382194	1.000000	0.71417	0.996000	0.52242	0.698000	0.40448	1.919000	0.40015	0.852000	0.35287	-0.352000	0.07741	.		0.393	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		12	263	0	0	0	1	0	12	263				
CHIAP2	149620	broad.mit.edu	37	1	111824378	111824378	+	RNA	SNP	A	A	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:111824378A>C	ENST00000369743.4	+	0	262					NR_003928.1				chitinase, acidic pseudogene 2																		AAAACAAGTAAATGACGGAAA	0.418																																						ENST00000369743.4																			0																																																			0							g.chr1:111824378A>C			1p13.2	2012-10-11			ENSG00000203878	ENSG00000203878			44463	pseudogene	pseudogene							Standard	NR_003928		Approved		uc009wgb.3		OTTHUMG00000012173		1.37:g.111824378A>C								NR_003928.1						0	262	+									RNA	SNP	ENST00000369743.4	37																																																																																						0.418	CHIAP2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000033667.3			70	139	0	0	0	1	0	70	139				
POM121L9P	29774	broad.mit.edu	37	22	24659809	24659809	+	RNA	SNP	G	G	A	rs376621154		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr22:24659809G>A	ENST00000414583.2	+	0	3334					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CCCTATCTGCGCACCCGGAGG	0.612																																						ENST00000414583.2																			0																																																			0							g.chr22:24659809G>A	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659809G>A								NR_003714.1						0	3334	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.612	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		6	28	0	0	0	1	0	6	28				
FLRT2	23768	broad.mit.edu	37	14	86087923	86087923	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr14:86087923T>A	ENST00000330753.4	+	2	832	c.65T>A	c.(64-66)aTt>aAt	p.I22N	FLRT2_ENST00000554746.1_Missense_Mutation_p.I22N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	22					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGGCTTATCATTTCCCTGGGG	0.507																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(64-66)aTt>aAt		fibronectin leucine rich transmembrane protein 2							80.0	80.0	80.0					14																	86087923		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86087923T>A	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.65T>A	14.37:g.86087923T>A	ENSP00000332879:p.Ile22Asn					FLRT2_ENST00000554746.1_Missense_Mutation_p.I22N	p.I22N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	832	+			22					A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.65T>A	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	T	19.59	3.856684	0.71834	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.57752	0.38;0.38	5.73	5.73	0.89815	.	0.451624	0.24838	N	0.035191	T	0.39226	0.1070	N	0.14661	0.345	0.39960	D	0.974659	B	0.31790	0.34	B	0.30855	0.121	T	0.45585	-0.9251	10	0.87932	D	0	-1.5983	16.0233	0.80516	0.0:0.0:0.0:1.0	.	22	O43155	FLRT2_HUMAN	N	22	ENSP00000332879:I22N;ENSP00000451050:I22N	ENSP00000332879:I22N	I	+	2	0	FLRT2	85157676	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	7.988000	0.88194	2.186000	0.69663	0.533000	0.62120	ATT		0.507	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			132	374	0	0	0	1	0	132	374				
NLRP12	91662	broad.mit.edu	37	19	54327405	54327405	+	Silent	SNP	G	G	A	rs577507616		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr19:54327405G>A	ENST00000324134.6	-	1	192	c.24C>T	c.(22-24)gaC>gaT	p.D8D	NLRP12_ENST00000351894.4_Silent_p.D8D|NLRP12_ENST00000391773.1_Silent_p.D8D|NLRP12_ENST00000535162.1_Silent_p.D8D|NLRP12_ENST00000391775.3_Silent_p.D8D|NLRP12_ENST00000391772.1_Silent_p.D8D|NLRP12_ENST00000354278.3_Silent_p.D8D|NLRP12_ENST00000345770.5_Silent_p.D8D	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	8	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.D8E(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GACAGAGGCCGTCCCTGCCTG	0.612																																						ENST00000324134.6																			1	Substitution - Missense(1)	p.D8E(1)	lung(1)	NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(22-24)gaC>gaT		NLR family, pyrin domain containing 12							43.0	42.0	42.0					19																	54327405		2203	4300	6503	SO:0001819	synonymous_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54327405G>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.24C>T	19.37:g.54327405G>A						NLRP12_ENST00000345770.5_Silent_p.D8D|NLRP12_ENST00000535162.1_Silent_p.D8D|NLRP12_ENST00000391775.3_Silent_p.D8D|NLRP12_ENST00000351894.4_Silent_p.D8D|NLRP12_ENST00000354278.3_Silent_p.D8D|NLRP12_ENST00000391773.1_Silent_p.D8D|NLRP12_ENST00000391772.1_Silent_p.D8D	p.D8D	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	1	192	-	Ovarian(34;0.19)		8			DAPIN.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.24C>T	CCDS12864.1																																																																																				0.612	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		85	339	0	0	0	1	0	85	339				
ADAMTS12	81792	broad.mit.edu	37	5	33577113	33577113	+	Missense_Mutation	SNP	G	G	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr5:33577113G>C	ENST00000504830.1	-	19	3353	c.3018C>G	c.(3016-3018)aaC>aaG	p.N1006K	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.N921K|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1006	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TAGTGCCTTTGTTTGGTTTCA	0.527										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(3016-3018)aaC>aaG		ADAM metallopeptidase with thrombospondin type 1 motif, 12							159.0	155.0	156.0					5																	33577113		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33577113G>C	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3018C>G	5.37:g.33577113G>C	ENSP00000422554:p.Asn1006Lys	HNSCC(64;0.19)				ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.N921K	p.N1006K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			19	3353	-			1006			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3018C>G	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	0.106	-1.144819	0.01714	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.57595	0.39;0.39	5.14	-1.12	0.09808	.	0.672497	0.16125	N	0.228476	T	0.27832	0.0685	N	0.20986	0.625	0.58432	D	0.99999	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.001	T	0.08330	-1.0727	10	0.28530	T	0.3	.	0.6749	0.00865	0.3625:0.1167:0.2841:0.2367	.	921;1006	P58397-3;P58397	.;ATS12_HUMAN	K	1006;921	ENSP00000422554:N1006K;ENSP00000344847:N921K	ENSP00000344847:N921K	N	-	3	2	ADAMTS12	33612870	0.392000	0.25229	0.567000	0.28434	0.205000	0.24178	0.075000	0.14686	0.061000	0.16311	0.655000	0.94253	AAC		0.527	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		117	876	0	0	0	1	0	117	876				
ATP5G3	518	broad.mit.edu	37	2	176044902	176044902	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr2:176044902C>A	ENST00000284727.4	-	3	3068	c.44G>T	c.(43-45)cGa>cTa	p.R15L	ATP5G3_ENST00000392541.3_Missense_Mutation_p.R15L|ATP5G3_ENST00000409194.1_Missense_Mutation_p.R15L	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)	15					ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			GGATCCAGCTCGGATCTATTA	0.343																																					GBM(30;387 605 18606 28805 47989)	ENST00000284727.4																			0				large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						c.(43-45)cGa>cTa		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)							85.0	84.0	85.0					2																	176044902		2203	4300	6503	SO:0001583	missense	518				ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding	g.chr2:176044902C>A	BC106881	CCDS2263.1	2q31.1	2012-10-12	2010-06-11		ENSG00000154518	ENSG00000154518		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	843	protein-coding gene	gene with protein product		602736	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) isoform 3"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9)"""			7698763	Standard	NM_001002258		Approved		uc002ujz.4	P48201	OTTHUMG00000132425	ENST00000284727.4:c.44G>T	2.37:g.176044902C>A	ENSP00000284727:p.Arg15Leu					ATP5G3_ENST00000409194.1_Missense_Mutation_p.R15L|ATP5G3_ENST00000392541.3_Missense_Mutation_p.R15L	p.R15L	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.147)		3	3068	-			15					B2R4Z0|D3DPF0|Q4ZFX7	Missense_Mutation	SNP	ENST00000284727.4	37	c.44G>T	CCDS2263.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865255	0.91511	.	.	ENSG00000154518	ENST00000284727;ENST00000409194;ENST00000392541	T;T;T	0.24151	1.87;1.87;1.87	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.44244	0.1284	L	0.58925	1.835	0.80722	D	1	D	0.64830	0.994	P	0.57679	0.825	T	0.15292	-1.0442	10	0.41790	T	0.15	0.9783	19.332	0.94295	0.0:1.0:0.0:0.0	.	15	P48201	AT5G3_HUMAN	L	15	ENSP00000284727:R15L;ENSP00000387317:R15L;ENSP00000376324:R15L	ENSP00000284727:R15L	R	-	2	0	ATP5G3	175753148	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.252000	0.78309	2.652000	0.90054	0.563000	0.77884	CGA		0.343	ATP5G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255563.1	NM_001689		99	370	1	0	3.07327e-39	1	3.46636e-39	99	370				
TSSC2	650368	broad.mit.edu	37	11	3427885	3427885	+	RNA	SNP	A	A	G			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr11:3427885A>G	ENST00000529482.1	+	0	1002									tumor suppressing subtransferable candidate 2 pseudogene																		AGCTTCACAGATCCACCGCTG	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427885A>G			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427885A>G														0	1002	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			10	129	0	0	0	1	0	10	129				
MAST4	375449	broad.mit.edu	37	5	66462696	66462696	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr5:66462696G>T	ENST00000403625.2	+	29	7984	c.7689G>T	c.(7687-7689)aaG>aaT	p.K2563N	MAST4_ENST00000403666.1_Missense_Mutation_p.K2374N|MAST4_ENST00000261569.7_Missense_Mutation_p.K2369N|MAST4_ENST00000404260.3_Missense_Mutation_p.K2566N|MAST4_ENST00000405643.1_Missense_Mutation_p.K2384N	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2566						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCAAAGGGAAGGACCCTGCCC	0.652																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(7696-7698)aaG>aaT		microtubule associated serine/threonine kinase family member 4							17.0	23.0	21.0					5																	66462696		1991	4154	6145	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66462696G>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.7689G>T	5.37:g.66462696G>T	ENSP00000385727:p.Lys2563Asn					MAST4_ENST00000403666.1_Missense_Mutation_p.K2374N|MAST4_ENST00000403625.2_Missense_Mutation_p.K2563N|MAST4_ENST00000261569.7_Missense_Mutation_p.K2369N|MAST4_ENST00000405643.1_Missense_Mutation_p.K2384N	p.K2566N			O15021	MAST4_HUMAN		Lung(70;0.011)	29	8006	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	2566					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.7698G>T	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.29|12.29	1.892169|1.892169	0.33442|0.33442	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000443808|ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	.|T;T;T;T;T	.|0.69435	.|-0.38;-0.38;-0.4;-0.4;-0.38	4.96|4.96	-0.072|-0.072	0.13741|0.13741	.|.	.|0.524558	.|0.17486	.|N	.|0.172521	.|T	.|0.48537	.|0.1505	L|L	0.32530|0.32530	0.975|0.975	0.24930|0.24930	N|N	0.991929|0.991929	.|P;P	.|0.42692	.|0.682;0.787	.|B;B	.|0.39258	.|0.154;0.295	.|T	.|0.44726	.|-0.9309	.|10	.|0.87932	.|D	.|0	-7.2859|-7.2859	4.9971|4.9971	0.14245|0.14245	0.5799:0.149:0.271:0.0|0.5799:0.149:0.271:0.0	.|.	.|2566;2374	.|O15021;O15021-3	.|MAST4_HUMAN;.	X|N	1620|2566;2563;2374;2384;2384;2369	.|ENSP00000385048:K2566N;ENSP00000385727:K2563N;ENSP00000384313:K2374N;ENSP00000384099:K2384N;ENSP00000261569:K2369N	.|ENSP00000261569:K2369N	G|K	+|+	1|3	0|2	MAST4|MAST4	66498452|66498452	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.396000|0.396000	0.30629|0.30629	0.740000|0.740000	0.26188|0.26188	0.102000|0.102000	0.17638|0.17638	0.561000|0.561000	0.74099|0.74099	GGA|AAG		0.652	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			21	47	1	0	3.8784e-16	1	4.13412e-16	21	47				
ENOX1	55068	broad.mit.edu	37	13	43934128	43934128	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr13:43934128G>A	ENST00000261488.6	-	7	1025	c.448C>T	c.(448-450)Cca>Tca	p.P150S	ENOX1_ENST00000482207.1_5'UTR|ENOX1_ENST00000412891.1_Missense_Mutation_p.P150S|ENOX1_ENST00000540032.1_5'UTR	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	150	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GCATTTTCTGGTAATCCTCCG	0.388																																						ENST00000261488.6																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(448-450)Cca>Tca		ecto-NOX disulfide-thiol exchanger 1							88.0	82.0	84.0					13																	43934128		2203	4300	6503	SO:0001583	missense	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43934128G>A	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.448C>T	13.37:g.43934128G>A	ENSP00000261488:p.Pro150Ser					ENOX1_ENST00000482207.1_5'UTR|ENOX1_ENST00000412891.1_Missense_Mutation_p.P150S|ENOX1_ENST00000540032.1_5'UTR	p.P150S	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	7	1025	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	150			RRM.		A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	c.448C>T	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612841	0.87258	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.78003	-1.14;-1.14	5.89	5.89	0.94794	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.85044	0.5607	L	0.39514	1.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85213	0.1022	10	0.66056	D	0.02	2.8841	20.248	0.98401	0.0:0.0:1.0:0.0	.	150	Q8TC92	ENOX1_HUMAN	S	150	ENSP00000261488:P150S;ENSP00000415054:P150S	ENSP00000261488:P150S	P	-	1	0	ENOX1	42832128	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.414000	0.97362	2.790000	0.95986	0.655000	0.94253	CCA		0.388	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		106	235	0	0	0	1	0	106	235				
MAST4	375449	broad.mit.edu	37	5	66462697	66462697	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr5:66462697G>T	ENST00000403625.2	+	29	7985	c.7690G>T	c.(7690-7692)Gac>Tac	p.D2564Y	MAST4_ENST00000403666.1_Missense_Mutation_p.D2375Y|MAST4_ENST00000261569.7_Missense_Mutation_p.D2370Y|MAST4_ENST00000404260.3_Missense_Mutation_p.D2567Y|MAST4_ENST00000405643.1_Missense_Mutation_p.D2385Y	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2567						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CAAAGGGAAGGACCCTGCCCC	0.647																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(7699-7701)Gac>Tac		microtubule associated serine/threonine kinase family member 4							17.0	23.0	21.0					5																	66462697		1993	4153	6146	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66462697G>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.7690G>T	5.37:g.66462697G>T	ENSP00000385727:p.Asp2564Tyr					MAST4_ENST00000403666.1_Missense_Mutation_p.D2375Y|MAST4_ENST00000403625.2_Missense_Mutation_p.D2564Y|MAST4_ENST00000261569.7_Missense_Mutation_p.D2370Y|MAST4_ENST00000405643.1_Missense_Mutation_p.D2385Y	p.D2567Y			O15021	MAST4_HUMAN		Lung(70;0.011)	29	8007	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	2567					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.7699G>T	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.43|14.43	2.533575|2.533575	0.45073|0.45073	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569|ENST00000443808	T;T;T;T;T|.	0.67698|.	-0.26;-0.26;-0.28;-0.27;-0.25|.	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.511218|.	0.18007|.	N|.	0.154702|.	T|T	0.39627|0.39627	0.1085|0.1085	N|N	0.14661|0.14661	0.345|0.345	0.32109|0.32109	N|N	0.58962|0.58962	P;P|.	0.52692|.	0.924;0.955|.	P;P|.	0.54312|.	0.564;0.748|.	T|T	0.41627|0.41627	-0.9498|-0.9498	10|5	0.87932|.	D|.	0|.	-10.3885|-10.3885	16.9304|16.9304	0.86189|0.86189	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2567;2375|.	O15021;O15021-3|.	MAST4_HUMAN;.|.	Y|V	2567;2564;2375;2385;2385;2370|1620	ENSP00000385048:D2567Y;ENSP00000385727:D2564Y;ENSP00000384313:D2375Y;ENSP00000384099:D2385Y;ENSP00000261569:D2370Y|.	ENSP00000261569:D2370Y|.	D|G	+|+	1|2	0|0	MAST4|MAST4	66498453|66498453	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.398000|0.398000	0.30690|0.30690	2.887000|2.887000	0.48586|0.48586	2.734000|2.734000	0.93682|0.93682	0.561000|0.561000	0.74099|0.74099	GAC|GGA		0.647	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			21	49	1	0	3.8784e-16	1	4.13412e-16	21	49				
NEK9	91754	broad.mit.edu	37	14	75590766	75590766	+	Missense_Mutation	SNP	T	T	G			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr14:75590766T>G	ENST00000238616.5	-	2	538	c.380A>C	c.(379-381)gAg>gCg	p.E127A		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	127	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		ATATTCCAGCTCAATCAGCAG	0.408																																						ENST00000238616.5																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(379-381)gAg>gCg		NIMA-related kinase 9							166.0	150.0	155.0					14																	75590766		2203	4300	6503	SO:0001583	missense	91754				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr14:75590766T>G	AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"""NIMA (never in mitosis gene a)- related kinase 9"""			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.380A>C	14.37:g.75590766T>G	ENSP00000238616:p.Glu127Ala						p.E127A	NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00718)	2	538	-			127			Protein kinase.		Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Missense_Mutation	SNP	ENST00000238616.5	37	c.380A>C	CCDS9839.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.550313	0.86127	.	.	ENSG00000119638	ENST00000238616;ENST00000540227;ENST00000557673;ENST00000553823	T;T;T	0.63913	1.94;-0.07;0.86	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.49541	0.1563	N	0.04373	-0.215	0.80722	D	1	P	0.38729	0.644	P	0.46510	0.519	T	0.52003	-0.8633	10	0.18276	T	0.48	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	127	Q8TD19	NEK9_HUMAN	A	127;109;9;9	ENSP00000238616:E127A;ENSP00000450943:E9A;ENSP00000452537:E9A	ENSP00000238616:E127A	E	-	2	0	NEK9	74660519	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	GAG		0.408	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	NM_033116		113	299	0	0	0	1	0	113	299				
LINC00521	256369	broad.mit.edu	37	14	94464479	94464479	+	RNA	SNP	T	T	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr14:94464479T>A	ENST00000444118.1	+	0	159					NR_024182.1		Q8NCU1	CN048_HUMAN	long intergenic non-protein coding RNA 521																		GGTGAGGTGATGGCAGCCATG	0.587																																						ENST00000444118.1																			0																				79.0	66.0	71.0					14																	94464479		2203	4300	6503			0							g.chr14:94464479T>A	BI463117		14q32.12	2012-10-12	2011-11-29	2011-11-29	ENSG00000175699	ENSG00000175699		"""Long non-coding RNAs"""	19860	non-coding RNA	RNA, long non-coding			"""chromosome 14 open reading frame 48"""	C14orf48			Standard	NR_024182		Approved		uc001ycg.1	Q8NCU1	OTTHUMG00000156974		14.37:g.94464479T>A								NR_024182.1						0	159	+								Q8N7S1	RNA	SNP	ENST00000444118.1	37																																																																																						0.587	LINC00521-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000346916.1			54	157	0	0	0	1	0	54	157				
IGF2BP2	10644	broad.mit.edu	37	3	185364845	185364845	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr3:185364845C>T	ENST00000382199.2	-	15	1770	c.1675G>A	c.(1675-1677)Gtc>Atc	p.V559I	IGF2BP2_ENST00000494906.1_5'Flank|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.V516I|IGF2BP2_ENST00000421047.2_Missense_Mutation_p.V502I|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.V565I	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	559	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ATAATTCTGACGATCACTTCC	0.507																																						ENST00000382199.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20						c.(1675-1677)Gtc>Atc		insulin-like growth factor 2 mRNA binding protein 2							215.0	177.0	190.0					3																	185364845		2203	4300	6503	SO:0001583	missense	10644				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr3:185364845C>T	BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.1675G>A	3.37:g.185364845C>T	ENSP00000371634:p.Val559Ile					IGF2BP2_ENST00000346192.3_Missense_Mutation_p.V516I|IGF2BP2_ENST00000421047.2_Missense_Mutation_p.V502I|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.V565I	p.V559I	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		15	1770	-	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		559			KH 4.		A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Missense_Mutation	SNP	ENST00000382199.2	37	c.1675G>A	CCDS3273.2	.	.	.	.	.	.	.	.	.	.	C	33	5.267801	0.95399	.	.	ENSG00000073792	ENST00000382199;ENST00000421047;ENST00000457616;ENST00000346192	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.02	5.02	0.67125	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.059424	0.64402	D	0.000002	T	0.50446	0.1616	L	0.52206	1.635	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.997;1.0	D;D;D;D;D;D	0.87578	0.977;0.997;0.997;0.997;0.915;0.998	T	0.40739	-0.9547	10	0.39692	T	0.17	-20.9324	17.4755	0.87658	0.0:1.0:0.0:0.0	.	453;496;502;565;516;559	Q9Y6M1-5;Q9Y6M1-3;Q9Y6M1-4;F8W930;Q9Y6M1-1;Q9Y6M1	.;.;.;.;.;IF2B2_HUMAN	I	559;502;565;516	ENSP00000371634:V559I;ENSP00000413787:V502I;ENSP00000410242:V565I;ENSP00000320204:V516I	ENSP00000320204:V516I	V	-	1	0	IGF2BP2	186847539	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.499000	0.84300	0.555000	0.69702	GTC		0.507	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2	NM_006548		124	422	0	0	0	1	0	124	422				
HERC2	8924	broad.mit.edu	37	15	28459392	28459392	+	Missense_Mutation	SNP	G	G	A	rs138059246	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr15:28459392G>A	ENST00000261609.7	-	41	6493	c.6385C>T	c.(6385-6387)Cgc>Tgc	p.R2129C		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCCTGCGGGCGCACCCTGCGC	0.667																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(6385-6387)Cgc>Tgc		HECT and RLD domain containing E3 ubiquitin protein ligase 2							25.0	26.0	25.0					15																	28459392		2195	4292	6487	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28459392G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.6385C>T	15.37:g.28459392G>A	ENSP00000261609:p.Arg2129Cys						p.R2129C	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	41	6493	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2129						Missense_Mutation	SNP	ENST00000261609.7	37	c.6385C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.944883	0.53079	.	.	ENSG00000128731	ENST00000261609	T	0.41400	1.0	4.75	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.53594	0.1806	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.55866	-0.8073	10	0.72032	D	0.01	.	12.4051	0.55434	0.0:0.0:0.7652:0.2348	.	2129	O95714	HERC2_HUMAN	C	2129	ENSP00000261609:R2129C	ENSP00000261609:R2129C	R	-	1	0	HERC2	26132987	1.000000	0.71417	0.956000	0.39512	0.126000	0.20510	3.130000	0.50508	2.461000	0.83175	0.484000	0.47621	CGC		0.667	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		10	205	0	0	0	1	0	10	205				
PCDHB14	56122	broad.mit.edu	37	5	140604697	140604697	+	Silent	SNP	G	G	A	rs147849897	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr5:140604697G>A	ENST00000239449.4	+	1	1620	c.1620G>A	c.(1618-1620)gcG>gcA	p.A540A	PCDHB14_ENST00000515856.2_Silent_p.A387A	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	540	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)	p.A540A(1)		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)			GGTCCCCGGCGTTGAGCAGCG	0.682																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			1	Substitution - coding silent(1)	p.A540A(1)	endometrium(1)	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.(1618-1620)gcG>gcA									48.0	54.0	52.0					5																	140604697		2203	4299	6502	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604697G>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.1620G>A	5.37:g.140604697G>A						PCDHB14_ENST00000515856.2_Silent_p.A387A	p.A540A	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1620	+			540			Cadherin 5.		B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	37	c.1620G>A	CCDS4256.1																																																																																				0.682	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		209	420	0	0	0	1	0	209	420				
COX4I2	84701	broad.mit.edu	37	20	30232606	30232606	+	Missense_Mutation	SNP	C	C	T	rs200392726	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr20:30232606C>T	ENST00000376075.3	+	5	490	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	139					cellular respiration (GO:0045333)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)	mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			GACGGACGAGCGGAAAGCCCA	0.582													T|||	2	0.000399361	0.0	0.0	5008	,	,		18339	0.0		0.0	False		,,,				2504	0.002					ENST00000376075.3																			0				breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11						c.(415-417)Cgg>Tgg		cytochrome c oxidase subunit IV isoform 2 (lung)		T	TRP/ARG	0,4406		0,0,2203	88.0	72.0	77.0		415	0.8	0.3	20		77	1,8599	819.2+/-406.8	0,1,4299	yes	missense	COX4I2	NM_032609.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	139/172	30232606	1,13005	2203	4300	6503	SO:0001583	missense	84701				cellular respiration		cytochrome-c oxidase activity	g.chr20:30232606C>T	AF257180	CCDS13187.1	20q11.21	2011-07-04	2004-08-11		ENSG00000131055	ENSG00000131055		"""Mitochondrial respiratory chain complex / Complex IV"""	16232	protein-coding gene	gene with protein product	"""cytochrome c oxidase subunit IV-like 2"""	607976	"""cytochrome c oxidase subunit IV isoform 2"""	COX4L2		11311561, 17937768	Standard	NM_032609		Approved	COXIV-2, COX4B, dJ857M17.2, COX4-2	uc002wwj.1	Q96KJ9	OTTHUMG00000032180	ENST00000376075.3:c.415C>T	20.37:g.30232606C>T	ENSP00000365243:p.Arg139Trp					COX4I2_ENST00000490030.1_3'UTR	p.R139W	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)		5	490	+	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		139					Q6GTF4|Q9H0Z4	Missense_Mutation	SNP	ENST00000376075.3	37	c.415C>T	CCDS13187.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.908787	0.00508	0.0	1.16E-4	ENSG00000131055	ENST00000376075	T	0.44482	0.92	4.38	0.825	0.18824	.	0.358373	0.28182	N	0.016300	T	0.10895	0.0266	N	0.01048	-1.04	0.20307	N	0.999915	B	0.02656	0.0	B	0.01281	0.0	T	0.36335	-0.9752	10	0.02654	T	1	-2.7008	7.3252	0.26551	0.0:0.4506:0.0:0.5494	.	139	Q96KJ9	COX42_HUMAN	W	139	ENSP00000365243:R139W	ENSP00000365243:R139W	R	+	1	2	COX4I2	29696267	0.975000	0.34042	0.349000	0.25694	0.011000	0.07611	1.047000	0.30367	-0.290000	0.09025	-0.817000	0.03123	CGG		0.582	COX4I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078548.1	NM_032609		50	259	0	0	0	1	0	50	259				
GABRB3	2562	broad.mit.edu	37	15	26825521	26825521	+	Silent	SNP	C	C	T	rs146431931		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr15:26825521C>T	ENST00000311550.5	-	6	738	c.627G>A	c.(625-627)ccG>ccA	p.P209P	GABRB3_ENST00000299267.4_Silent_p.P209P|GABRB3_ENST00000541819.2_Silent_p.P265P|GABRB3_ENST00000400188.3_Silent_p.P138P|GABRB3_ENST00000545868.1_Silent_p.P124P	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	209					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGGAGAACTGCGGGAGCTCAA	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		18322	0.0		0.0	False		,,,				2504	0.001					ENST00000541819.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(793-795)ccG>ccA		gamma-aminobutyric acid (GABA) A receptor, beta 3	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	C	,,,	0,4406		0,0,2203	131.0	116.0	121.0		627,372,414,627	-10.2	0.7	15	dbSNP_134	121	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GABRB3	NM_000814.5,NM_001191320.1,NM_001191321.1,NM_021912.4	,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,	209/474,124/389,138/403,209/474	26825521	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26825521C>T		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.627G>A	15.37:g.26825521C>T						GABRB3_ENST00000545868.1_Silent_p.P124P|GABRB3_ENST00000400188.3_Silent_p.P138P|GABRB3_ENST00000311550.5_Silent_p.P209P|GABRB3_ENST00000299267.4_Silent_p.P209P	p.P265P			P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	7	897	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	209					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	ENST00000311550.5	37	c.795G>A	CCDS10019.1																																																																																				0.562	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			16	313	0	0	0	1	0	16	313				
FAT2	2196	broad.mit.edu	37	5	150945261	150945261	+	Missense_Mutation	SNP	C	C	T	rs142737825	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr5:150945261C>T	ENST00000261800.5	-	1	3244	c.3232G>A	c.(3232-3234)Gca>Aca	p.A1078T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1078	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGAAGGCTGCGAGTCCAGTG	0.597													C|||	3	0.000599042	0.0023	0.0	5008	,	,		11388	0.0		0.0	False		,,,				2504	0.0					ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(3232-3234)Gca>Aca		FAT atypical cadherin 2		C	THR/ALA	3,4403	6.2+/-15.9	0,3,2200	36.0	37.0	37.0		3232	3.2	0.2	5	dbSNP_134	37	1,8597	1.2+/-3.3	0,1,4298	yes	missense	FAT2	NM_001447.2	58	0,4,6498	TT,TC,CC		0.0116,0.0681,0.0308	benign	1078/4350	150945261	4,13000	2203	4299	6502	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150945261C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3232G>A	5.37:g.150945261C>T	ENSP00000261800:p.Ala1078Thr						p.A1078T	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	3244	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1078			Cadherin 9.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.3232G>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537775	0.27475	6.81E-4	1.16E-4	ENSG00000086570	ENST00000261800	T	0.03181	4.02	4.95	3.17	0.36434	Cadherin (4);Cadherin-like (1);	0.434861	0.21480	N	0.073843	T	0.02230	0.0069	N	0.11341	0.13	0.20307	N	0.999912	B	0.18968	0.032	B	0.14023	0.01	T	0.45101	-0.9284	10	0.39692	T	0.17	.	7.2879	0.26350	0.1444:0.7035:0.0:0.1521	.	1078	Q9NYQ8	FAT2_HUMAN	T	1078	ENSP00000261800:A1078T	ENSP00000261800:A1078T	A	-	1	0	FAT2	150925454	0.556000	0.26538	0.248000	0.24265	0.638000	0.38207	1.972000	0.40540	0.608000	0.30000	0.655000	0.94253	GCA		0.597	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		61	133	0	0	0	1	0	61	133				
FAM69B	138311	broad.mit.edu	37	9	139620623	139620623	+	IGR	SNP	T	T	G			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr9:139620623T>G	ENST00000371692.4	+	0	1668				SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000362567.2_RNA|SNHG7_ENST00000414282.1_RNA|SNHG7_ENST00000416970.1_RNA|SNHG7_ENST00000391185.1_RNA|SNHG7_ENST00000436596.1_RNA	NM_152421.3	NP_689634.2	Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		AAATCGCCACTTTCTCTTTGC	0.567																																						ENST00000414282.1																			0																				48.0	46.0	46.0					9																	139620623		876	1991	2867	SO:0001628	intergenic_variant	0							g.chr9:139620623T>G		CCDS7004.1	9q34.3	2012-08-03			ENSG00000165716	ENSG00000165716			28290	protein-coding gene	gene with protein product		614543				21334309	Standard	NM_152421		Approved	MGC20262, C9orf136	uc004cik.3	Q5VUD6	OTTHUMG00000020940		9.37:g.139620623T>G						SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000362567.2_RNA|SNHG7_ENST00000436596.1_RNA|SNHG7_ENST00000416970.1_RNA								0	451	-								Q5VUD7|Q8N5N0|Q8WYU5	RNA	SNP	ENST00000371692.4	37		CCDS7004.1																																																																																				0.567	FAM69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055102.1	NM_152421		65	113	0	0	0	1	0	65	113				
SMAD4	4089	broad.mit.edu	37	18	48603028	48603028	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr18:48603028T>A	ENST00000342988.3	+	11	1867	c.1329T>A	c.(1327-1329)tgT>tgA	p.C443*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.C347*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.C443*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	443	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)|p.R441fs*16(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGCGTCAGTGTCATCGACAGA	0.453																																						ENST00000342988.3																			39	Whole gene deletion(36)|Unknown(2)|Deletion - Frameshift(1)	p.0?(36)|p.?(2)|p.R441fs*16(1)	pancreas(27)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1327-1329)tgT>tgA		SMAD family member 4							43.0	44.0	44.0					18																	48603028		2203	4300	6503	SO:0001587	stop_gained	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48603028T>A	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1329T>A	18.37:g.48603028T>A	ENSP00000341551:p.Cys443*					SMAD4_ENST00000398417.2_Nonsense_Mutation_p.C443*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.C347*	p.C443*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	11	1867	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	443			MH2.		A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	37	c.1329T>A	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	T	41	9.134028	0.99077	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	.	.	.	6.03	4.68	0.58851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7929	0.52080	0.0:0.0806:0.0:0.9194	.	.	.	.	X	443	.	ENSP00000341551:C443X	C	+	3	2	SMAD4	46857026	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.233000	0.32648	2.308000	0.77769	0.533000	0.62120	TGT		0.453	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		69	115	0	0	0	1	0	69	115				
PTPRH	5794	broad.mit.edu	37	19	55711614	55711614	+	Silent	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr19:55711614G>A	ENST00000376350.3	-	7	1432	c.1410C>T	c.(1408-1410)agC>agT	p.S470S	PTPRH_ENST00000263434.5_Silent_p.S292S|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	470	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S470S(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTGTGGAGATGCTGACATTCT	0.542																																						ENST00000376350.3																			1	Substitution - coding silent(1)	p.S470S(1)	endometrium(1)	breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(1408-1410)agC>agT		protein tyrosine phosphatase, receptor type, H							121.0	103.0	109.0					19																	55711614		2203	4300	6503	SO:0001819	synonymous_variant	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55711614G>A		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1410C>T	19.37:g.55711614G>A						PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Silent_p.S292S	p.S470S	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	7	1432	-		Renal(1328;0.245)	470			Fibronectin type-III 5.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	ENST00000376350.3	37	c.1410C>T	CCDS33110.1																																																																																				0.542	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			69	282	0	0	0	1	0	69	282				
PCDH15	65217	broad.mit.edu	37	10	55826528	55826528	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr10:55826528C>A	ENST00000320301.6	-	18	2603	c.2209G>T	c.(2209-2211)Ggt>Tgt	p.G737C	PCDH15_ENST00000395445.1_Missense_Mutation_p.G744C|PCDH15_ENST00000414778.1_Missense_Mutation_p.G742C|PCDH15_ENST00000437009.1_Missense_Mutation_p.G666C|PCDH15_ENST00000361849.3_Missense_Mutation_p.G737C|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.G348C|PCDH15_ENST00000373957.3_Missense_Mutation_p.G715C|PCDH15_ENST00000395438.1_Missense_Mutation_p.G737C|PCDH15_ENST00000395433.1_Missense_Mutation_p.G715C|PCDH15_ENST00000395430.1_Missense_Mutation_p.G737C|PCDH15_ENST00000373955.1_Missense_Mutation_p.G737C|PCDH15_ENST00000395432.2_Missense_Mutation_p.G700C|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.G744C	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	737	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.G742S(2)|p.G737S(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTACTTGACCCACAAAGGCA	0.328										HNSCC(58;0.16)																												ENST00000373965.2																			4	Substitution - Missense(4)	p.G742S(2)|p.G737S(2)	lung(4)	NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(2230-2232)Ggt>Tgt		protocadherin-related 15							88.0	83.0	85.0					10																	55826528		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55826528C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2209G>T	10.37:g.55826528C>A	ENSP00000322604:p.Gly737Cys	HNSCC(58;0.16)				PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.G737C|PCDH15_ENST00000373957.3_Missense_Mutation_p.G715C|PCDH15_ENST00000395432.2_Missense_Mutation_p.G700C|PCDH15_ENST00000414778.1_Missense_Mutation_p.G742C|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.G715C|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.G666C|PCDH15_ENST00000395430.1_Missense_Mutation_p.G737C|PCDH15_ENST00000395445.1_Missense_Mutation_p.G744C|PCDH15_ENST00000320301.6_Missense_Mutation_p.G737C|PCDH15_ENST00000373955.1_Missense_Mutation_p.G737C|PCDH15_ENST00000409834.1_Missense_Mutation_p.G348C|PCDH15_ENST00000361849.3_Missense_Mutation_p.G737C	p.G744C	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			19	2624	-		Melanoma(3;0.117)|Lung SC(717;0.238)	737			Cadherin 7.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.2230G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170170	0.78452	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T	0.63255	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;-0.03;0.58;0.58;0.58;0.58	5.85	5.85	0.93711	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.67249	0.2873	L	0.60067	1.865	0.80722	D	1	B;B;B;B;B;B;B;B;P;B;P;P;B;P;P	0.40553	0.289;0.045;0.186;0.097;0.285;0.045;0.289;0.254;0.529;0.289;0.529;0.529;0.037;0.721;0.529	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.44163	0.33;0.071;0.208;0.16;0.232;0.104;0.33;0.35;0.443;0.232;0.33;0.33;0.067;0.32;0.33	T	0.69957	-0.5004	9	0.87932	D	0	.	18.9349	0.92582	0.0:1.0:0.0:0.0	.	715;737;737;742;666;700;737;737;744;744;737;742;737;715;737	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	C	744;742;737;737;348;744;700;737;715;715;737;737;742;666;737	ENSP00000363076:G744C;ENSP00000410304:G742C;ENSP00000378826:G737C;ENSP00000386693:G348C;ENSP00000378832:G744C;ENSP00000378820:G700C;ENSP00000354950:G737C;ENSP00000378821:G715C;ENSP00000363068:G715C;ENSP00000322604:G737C;ENSP00000378818:G737C;ENSP00000412628:G666C;ENSP00000363066:G737C	ENSP00000322604:G737C	G	-	1	0	PCDH15	55496534	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.661000	0.61518	2.773000	0.95371	0.655000	0.94253	GGT		0.328	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		89	248	1	0	4.08182e-41	1	4.71354e-41	89	248				
UBR4	23352	broad.mit.edu	37	1	19477078	19477078	+	Silent	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:19477078G>A	ENST00000375254.3	-	49	7450	c.7423C>T	c.(7423-7425)Ctg>Ttg	p.L2475L	UBR4_ENST00000375217.2_Silent_p.L2475L|UBR4_ENST00000375226.2_Silent_p.L2475L|UBR4_ENST00000375267.2_Silent_p.L2475L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2475					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TACCTCTCCAGGACAGTTCCA	0.522																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(7423-7425)Ctg>Ttg		ubiquitin protein ligase E3 component n-recognin 4							79.0	76.0	77.0					1																	19477078		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19477078G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.7423C>T	1.37:g.19477078G>A						UBR4_ENST00000375254.3_Silent_p.L2475L|UBR4_ENST00000375226.2_Silent_p.L2475L|UBR4_ENST00000375217.2_Silent_p.L2475L	p.L2475L			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	49	7426	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2475					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.7423C>T	CCDS189.1																																																																																				0.522	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		191	956	0	0	0	1	0	191	956				
FRMD1	79981	broad.mit.edu	37	6	168461474	168461474	+	Missense_Mutation	SNP	G	G	A	rs138998311	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr6:168461474G>A	ENST00000283309.6	-	9	1373	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C	FRMD1_ENST00000440994.2_Missense_Mutation_p.R369C|FRMD1_ENST00000537786.1_Missense_Mutation_p.R208C|FRMD1_ENST00000432403.1_5'UTR	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	437						cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGGTGGCTGCGGCTGGTCCTG	0.657													g|||	4	0.000798722	0.0	0.0014	5008	,	,		17322	0.0		0.003	False		,,,				2504	0.0				GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)	ENST00000283309.6																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(1309-1311)Cgc>Tgc		FERM domain containing 1		A	CYS/ARG,CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	35.0	34.0	35.0		1105,1309	-0.6	0.0	6	dbSNP_134	35	23,8577	16.6+/-54.9	0,23,4277	yes	missense,missense	FRMD1	NM_001122841.1,NM_024919.3	180,180	0,25,6478	AA,AG,GG		0.2674,0.0454,0.1922	probably-damaging,probably-damaging	369/482,437/550	168461474	25,12981	2203	4300	6503	SO:0001583	missense	79981					cytoskeleton	binding	g.chr6:168461474G>A		CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.1309C>T	6.37:g.168461474G>A	ENSP00000283309:p.Arg437Cys					FRMD1_ENST00000537786.1_Missense_Mutation_p.R208C|FRMD1_ENST00000440994.2_Missense_Mutation_p.R369C|FRMD1_ENST00000432403.1_5'UTR	p.R437C	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	9	1373	-		Breast(66;1.07e-05)|Ovarian(120;0.0728)	437					B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Missense_Mutation	SNP	ENST00000283309.6	37	c.1309C>T	CCDS5306.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	g	5.604	0.296248	0.10622	4.54E-4	0.002674	ENSG00000153303	ENST00000283309;ENST00000440994;ENST00000537786	T;T;T	0.44881	0.91;0.91;0.91	2.48	-0.635	0.11512	.	8.020120	0.01376	N	0.012743	T	0.09423	0.0232	N	0.22421	0.69	0.18873	N	0.999988	B;B;B;B	0.17465	0.001;0.022;0.012;0.007	B;B;B;B	0.09377	0.001;0.002;0.004;0.001	T	0.11842	-1.0571	10	0.40728	T	0.16	.	0.7804	0.01040	0.4347:0.1729:0.2181:0.1743	.	372;437;369;332	B7Z8G9;Q8N878;Q8N878-2;Q5SZU5	.;FRMD1_HUMAN;.;.	C	437;369;208	ENSP00000283309:R437C;ENSP00000414115:R369C;ENSP00000440078:R208C	ENSP00000283309:R437C	R	-	1	0	FRMD1	168204323	0.004000	0.15560	0.003000	0.11579	0.008000	0.06430	-0.079000	0.11357	-0.350000	0.08262	-2.023000	0.00429	CGC		0.657	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	NM_024919		8	133	0	0	0	1	0	8	133				
PDAP1	11333	broad.mit.edu	37	7	98995523	98995523	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr7:98995523C>T	ENST00000350498.3	-	5	729	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	PDAP1_ENST00000496335.1_5'UTR	NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	150					cell proliferation (GO:0008283)|signal transduction (GO:0007165)		poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AGCCTCCTCCCGCTGTTTCCG	0.602																																						ENST00000350498.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9						c.(448-450)cGg>cAg		PDGFA associated protein 1	Becaplermin(DB00102)						88.0	83.0	85.0					7																	98995523		2203	4300	6503	SO:0001583	missense	11333				cell proliferation|signal transduction			g.chr7:98995523C>T	U41745	CCDS5662.1	7q	2008-07-18			ENSG00000106244	ENSG00000106244			14634	protein-coding gene	gene with protein product	"""PDGF associated protein"""	607075				8780057	Standard	NM_014891		Approved	PAP1, PAP, HASPP28	uc003uqe.3	Q13442	OTTHUMG00000154629	ENST00000350498.3:c.449G>A	7.37:g.98995523C>T	ENSP00000222968:p.Arg150Gln					PDAP1_ENST00000496335.1_5'UTR	p.R150Q	NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		5	729	-	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		150					D6W5S5|Q92906	Missense_Mutation	SNP	ENST00000350498.3	37	c.449G>A	CCDS5662.1	.	.	.	.	.	.	.	.	.	.	C	37	6.008410	0.97195	.	.	ENSG00000106244	ENST00000350498	.	.	.	5.13	5.13	0.70059	Casein kinase substrate, phosphoprotein PP28 (1);	0.000000	0.85682	D	0.000000	D	0.87245	0.6129	H	0.94808	3.585	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	D	0.90785	0.4682	9	0.87932	D	0	-12.552	18.9358	0.92584	0.0:1.0:0.0:0.0	.	150	Q13442	HAP28_HUMAN	Q	150	.	ENSP00000222968:R150Q	R	-	2	0	PDAP1	98833459	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.582000	0.82546	2.553000	0.86117	0.650000	0.86243	CGG		0.602	PDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336388.2	NM_014891		148	353	0	0	0	1	0	148	353				
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	180								p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.E180G(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(538-540)gAa>gGa																																						SO:0001583	missense	0							g.chr20:29633900A>G			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.539A>G	20.37:g.29633900A>G	ENSP00000278882:p.Glu180Gly					FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G	p.E180G							9	919	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.539A>G		.	.	.	.	.	.	.	.	.	.	a	9.128	1.010735	0.19277	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	1.62	1.62	0.23740	.	.	.	.	.	T	0.41351	0.1155	.	.	.	0.21697	N	0.999586	.	.	.	.	.	.	T	0.36625	-0.9740	5	0.87932	D	0	.	7.2988	0.26408	1.0:0.0:0.0:0.0	rs60081496	.	.	.	G	180	.	ENSP00000278882:E180G	E	+	2	0	FRG1B	28247561	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.560000	0.60802	0.995000	0.38917	0.411000	0.27672	GAA		0.264	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		13	305	0	0	0	1	0	13	305				
PSME4	23198	broad.mit.edu	37	2	54133986	54133986	+	Missense_Mutation	SNP	T	T	C	rs183190432		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr2:54133986T>C	ENST00000404125.1	-	25	2859	c.2804A>G	c.(2803-2805)cAt>cGt	p.H935R	PSME4_ENST00000421748.2_Missense_Mutation_p.H79R	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	935					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGCTCTGATATGTTGTTTTTT	0.323													T|||	1	0.000199681	0.0	0.0014	5008	,	,		20091	0.0		0.0	False		,,,				2504	0.0					ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(2803-2805)cAt>cGt		proteasome (prosome, macropain) activator subunit 4							68.0	67.0	67.0					2																	54133986		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54133986T>C	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.2804A>G	2.37:g.54133986T>C	ENSP00000384211:p.His935Arg					PSME4_ENST00000421748.2_Missense_Mutation_p.H79R	p.H935R	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		25	2859	-			935					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.2804A>G	CCDS33197.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	15.37	2.813146	0.50527	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.10960	2.82;2.82	5.45	5.45	0.79879	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.25306	0.0615	L	0.46947	1.48	0.80722	D	1	P;D;B	0.89917	0.669;1.0;0.287	B;D;B	0.74674	0.122;0.984;0.057	T	0.01266	-1.1401	10	0.25106	T	0.35	.	15.8205	0.78638	0.0:0.0:0.0:1.0	.	310;79;935	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	R	79;935	ENSP00000410830:H79R;ENSP00000384211:H935R	ENSP00000384211:H935R	H	-	2	0	PSME4	53987490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.201000	0.70794	0.533000	0.62120	CAT		0.323	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		63	153	0	0	0	1	0	63	153				
GSN	2934	broad.mit.edu	37	9	124062285	124062285	+	Splice_Site	SNP	T	T	G			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr9:124062285T>G	ENST00000373818.4	+	1	213		c.e1+2		GSN_ENST00000449733.1_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000373808.2_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000412819.1_Intron	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin						actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						gaggcgcgggtgagtgcccgg	0.697																																						ENST00000373818.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						c.e1+2		gelsolin							22.0	24.0	23.0					9																	124062285		1599	3598	5197	SO:0001630	splice_region_variant	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124062285T>G	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.144+2T>G	9.37:g.124062285T>G						GSN_ENST00000394353.2_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000373808.2_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000412819.1_Intron		NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN			1	213	+								A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Splice_Site	SNP	ENST00000373818.4	37		CCDS6828.1																																																																																				0.697	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177	Intron	42	98	0	0	0	1	0	42	98				
ANKRD30BL	554226	broad.mit.edu	37	2	132914716	132914716	+	Missense_Mutation	SNP	G	G	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr2:132914716G>C	ENST00000409867.1	-	3	586	c.337C>G	c.(337-339)Ctg>Gtg	p.L113V	ANKRD30BL_ENST00000470729.1_5'UTR			A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like	113										endometrium(1)|kidney(3)	4						TGGCATTGCAGAGCCTGTCAG	0.343																																						ENST00000409867.1																			0				endometrium(1)|kidney(3)	4						c.(337-339)Ctg>Gtg		ankyrin repeat domain 30B-like																																				SO:0001583	missense	554226							g.chr2:132914716G>C			2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000409867.1:c.337C>G	2.37:g.132914716G>C	ENSP00000386398:p.Leu113Val					ANKRD30BL_ENST00000470729.1_5'UTR	p.L113V							3	586	-								B8ZZL7	Missense_Mutation	SNP	ENST00000409867.1	37	c.337C>G		.	.	.	.	.	.	.	.	.	.	.	0.003	-2.506746	0.00155	.	.	ENSG00000163046	ENST00000409867	T	0.61040	0.14	0.569	-1.14	0.09741	.	.	.	.	.	T	0.22085	0.0532	.	.	.	0.23089	N	0.998313	.	.	.	.	.	.	T	0.17018	-1.0383	5	0.02654	T	1	.	.	.	.	.	.	.	.	V	113	ENSP00000386398:L113V	ENSP00000295181:L113V	L	-	1	2	ANKRD30BL	132631186	0.989000	0.36119	0.024000	0.17045	0.244000	0.25665	0.304000	0.19228	-1.210000	0.02627	0.184000	0.17185	CTG		0.343	ANKRD30BL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331353.2	NR_027019		5	68	0	0	0	1	0	5	68				
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677																																						ENST00000333822.4																			4	Substitution - Missense(4)	p.C95S(4)	endometrium(3)|kidney(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(283-285)Tgc>Agc		keratin associated protein 4-8							7.0	11.0	10.0					17																	39254054		685	1582	2267	SO:0001583	missense	728224					keratin filament		g.chr17:39254054A>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.283T>A	17.37:g.39254054A>T	ENSP00000328444:p.Cys95Ser						p.C95S	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	339	-			95			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.283T>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.755714	0.49362	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.02280	4.36	3.11	2.01	0.26516	.	0.000000	0.52532	U	0.000067	T	0.04497	0.0123	M	0.83223	2.63	0.25182	N	0.99019	B	0.21606	0.058	B	0.27887	0.084	T	0.21793	-1.0235	10	0.54805	T	0.06	.	6.3859	0.21559	0.8715:0.0:0.1285:0.0	.	95	Q9BYQ9	KRA48_HUMAN	S	95;80	ENSP00000328444:C95S	ENSP00000414561:C80S	C	-	1	0	KRTAP4-8	36507580	0.999000	0.42202	0.393000	0.26258	0.649000	0.38597	3.122000	0.50446	0.404000	0.25506	0.374000	0.22700	TGC		0.677	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		20	267	0	0	0	1	0	20	267				
ABLIM1	3983	broad.mit.edu	37	10	116444085	116444085	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr10:116444085G>A	ENST00000369252.4	-	1	329	c.28C>T	c.(28-30)Ctc>Ttc	p.L10F	ABLIM1_ENST00000533213.2_Missense_Mutation_p.L10F	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	0					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)			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)		GGGTCCGTGAGCTCAGTCATT	0.463																																						ENST00000369252.4																			0				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.(28-30)Ctc>Ttc		actin binding LIM protein 1							206.0	165.0	179.0					10																	116444085		2203	4300	6503	SO:0001583	missense	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116444085G>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	ENST00000369252.4:c.28C>T	10.37:g.116444085G>A	ENSP00000358256:p.Leu10Phe					ABLIM1_ENST00000533213.2_Missense_Mutation_p.L10F	p.L10F	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	1	329	-		Colorectal(252;0.0373)|Breast(234;0.231)	0					A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000369252.4	37	c.28C>T	CCDS31288.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.609503	0.28623	.	.	ENSG00000099204	ENST00000369252;ENST00000369267;ENST00000533213	T;T	0.28069	1.63;1.63	5.87	3.94	0.45596	.	.	.	.	.	T	0.14570	0.0352	N	0.08118	0	0.25237	N	0.989784	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.28902	-1.0029	9	0.18710	T	0.47	.	7.6005	0.28073	0.0929:0.1705:0.7367:0.0	.	10;10;10	F8W8M4;A6NKJ2;B3KVH2	.;.;.	F	10	ENSP00000358256:L10F;ENSP00000433629:L10F	ENSP00000358256:L10F	L	-	1	0	ABLIM1	116434075	0.832000	0.29368	0.055000	0.19348	0.676000	0.39594	1.540000	0.36115	0.854000	0.35336	0.655000	0.94253	CTC		0.463	ABLIM1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				98	246	0	0	0	1	0	98	246				
ESPNP	284729	broad.mit.edu	37	1	17033900	17033900	+	RNA	SNP	C	C	T	rs370930589		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:17033900C>T	ENST00000492551.1	-	0	578					NR_026567.1				espin pseudogene																		CGTTCACTACCAGGATCTGGC	0.736																																						ENST00000492551.1																			0																																																			0							g.chr1:17033900C>T	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17033900C>T								NR_026567.1						0	578	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.736	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			12	119	0	0	0	1	0	12	119				
KIAA0754	643314	broad.mit.edu	37	1	39878506	39878506	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:39878506G>T	ENST00000530275.1	+	1	2356	c.2161G>T	c.(2161-2163)Ggt>Tgt	p.G721C	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	721										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCCAGAGGAGGGTACCTCAAT	0.542																																						ENST00000530275.1																			0				central_nervous_system(1)|large_intestine(6)|skin(1)	8						c.(2161-2163)Ggt>Tgt		KIAA0754							41.0	42.0	42.0					1																	39878506		2000	4167	6167	SO:0001583	missense	643314							g.chr1:39878506G>T			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.2161G>T	1.37:g.39878506G>T	ENSP00000431179:p.Gly721Cys					MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron	p.G721C	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	2356	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	721					E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.2161G>T		.	.	.	.	.	.	.	.	.	.	G	9.814	1.183976	0.21870	.	.	ENSG00000255103	ENST00000530275	T	0.25912	1.77	2.94	2.01	0.26516	.	.	.	.	.	T	0.11495	0.0280	N	0.08118	0	0.09310	N	1	P	0.50156	0.932	B	0.40285	0.325	T	0.10636	-1.0621	9	0.62326	D	0.03	.	4.2424	0.10654	0.1402:0.2402:0.6196:0.0	.	721	O94854	K0754_HUMAN	C	721	ENSP00000431179:G721C	ENSP00000431179:G721C	G	+	1	0	RP4-562N20.1	39651093	0.000000	0.05858	0.003000	0.11579	0.011000	0.07611	-0.271000	0.08572	0.553000	0.29044	0.561000	0.74099	GGT		0.542	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		18	55	1	0	9.7654e-05	1	9.97099e-05	18	55				
CPB1	1360	broad.mit.edu	37	3	148563350	148563350	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr3:148563350C>A	ENST00000491148.1	+	10	1252	c.918C>A	c.(916-918)taC>taA	p.Y306*	CPB1_ENST00000282957.4_Nonsense_Mutation_p.Y306*			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	306						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TCCACTCGTACTCCCAAATGA	0.443																																						ENST00000491148.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(916-918)taC>taA		carboxypeptidase B1 (tissue)							143.0	136.0	138.0					3																	148563350		2203	4300	6503	SO:0001587	stop_gained	1360				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148563350C>A	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.918C>A	3.37:g.148563350C>A	ENSP00000417222:p.Tyr306*					CPB1_ENST00000282957.4_Nonsense_Mutation_p.Y306*	p.Y306*			P15086	CBPB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		10	1252	+			306					O60834|Q53XJ0|Q96BQ8	Nonsense_Mutation	SNP	ENST00000491148.1	37	c.918C>A	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.903423	0.52333	.	.	ENSG00000153002	ENST00000491148;ENST00000282957	.	.	.	5.69	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.7299	0.08489	0.0:0.662:0.0:0.338	.	.	.	.	X	306	.	ENSP00000282957:Y306X	Y	+	3	2	CPB1	150046040	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	2.436000	0.44819	2.677000	0.91161	0.655000	0.94253	TAC		0.443	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871		213	342	1	0	5.28774e-85	1	6.25501e-85	213	342				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		54	52	0	0	0	1	0	54	52				
CDH8	1006	broad.mit.edu	37	16	61851519	61851519	+	Missense_Mutation	SNP	C	C	T	rs375557193		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr16:61851519C>T	ENST00000577390.1	-	7	2095	c.1141G>A	c.(1141-1143)Gtg>Atg	p.V381M	CDH8_ENST00000577730.1_Missense_Mutation_p.V381M|CDH8_ENST00000584337.1_Missense_Mutation_p.V381M|CDH8_ENST00000299345.6_Missense_Mutation_p.V381M	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	381	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCTTCAACCACGATTTTGACT	0.483													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15370	0.0		0.0	False		,,,				2504	0.0					ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(1141-1143)Gtg>Atg		cadherin 8, type 2		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	107.0	87.0	94.0		1141	6.2	0.9	16		94	0,8600		0,0,4300	no	missense	CDH8	NM_001796.4	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	381/800	61851519	1,13005	2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61851519C>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1141G>A	16.37:g.61851519C>T	ENSP00000462701:p.Val381Met					CDH8_ENST00000577730.1_Missense_Mutation_p.V381M|CDH8_ENST00000299345.6_Missense_Mutation_p.V381M|CDH8_ENST00000584337.1_Missense_Mutation_p.V381M	p.V381M	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	7	2095	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	381			Cadherin 3.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.1141G>A	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939496	0.34189	2.27E-4	0.0	ENSG00000150394	ENST00000299345	T	0.01838	4.61	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.275056	0.41605	D	0.000854	T	0.04497	0.0123	N	0.16567	0.415	0.37077	D	0.89879	D;B	0.69078	0.997;0.232	P;B	0.58454	0.839;0.095	T	0.55630	-0.8111	10	0.49607	T	0.09	.	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	197;381	Q3LID3;P55286	.;CADH8_HUMAN	M	381	ENSP00000299345:V381M	ENSP00000299345:V381M	V	-	1	0	CDH8	60409020	0.074000	0.21230	0.851000	0.33527	0.731000	0.41821	1.447000	0.35101	2.941000	0.99782	0.655000	0.94253	GTG		0.483	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		82	228	0	0	0	1	0	82	228				
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527													.|||	3140	0.626997	0.9395	0.5	5008	,	,		11330	0.7847		0.4702	False		,,,				2504	0.2935					ENST00000567960.1																			3	Substitution - Missense(3)	p.I221T(3)	kidney(2)|prostate(1)																																																0							g.chr16:90161926T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161926T>C						TUBB8P7_ENST00000564451.1_RNA								0	662	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		13	170	0	0	0	1	0	13	170				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			23	306	0	0	0	1	0	23	306				
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs200214744|rs565505867	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662																																						ENST00000391413.2																			4	Substitution - Missense(4)	p.M93V(4)	endometrium(3)|kidney(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(277-279)Atg>Gtg		keratin associated protein 4-11							6.0	10.0	8.0					17																	39274291		651	1556	2207	SO:0001583	missense	653240					keratin filament		g.chr17:39274291T>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.277A>G	17.37:g.39274291T>C	ENSP00000375232:p.Met93Val						p.M93V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	315	-		Breast(137;0.000496)	93			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.277A>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	0.073	-1.199029	0.01581	.	.	ENSG00000212721	ENST00000391413	T	0.00580	6.43	4.25	-4.9	0.03094	.	.	.	.	.	T	0.00109	0.0003	N	0.00040	-2.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43097	-0.9412	9	0.02654	T	1	.	0.4739	0.00536	0.3479:0.2455:0.1203:0.2863	.	93	Q9BYQ6	KR411_HUMAN	V	93	ENSP00000375232:M93V	ENSP00000375232:M93V	M	-	1	0	KRTAP4-11	36527817	.	.	0.012000	0.15200	0.010000	0.07245	.	.	-1.319000	0.02286	-1.132000	0.01976	ATG		0.662	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			10	274	0	0	0	1	0	10	274				
UMODL1	89766	broad.mit.edu	37	21	43523941	43523941	+	Intron	SNP	C	C	A	rs220111	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr21:43523941C>A	ENST00000408910.2	+	9	1299				UMODL1_ENST00000408989.2_Intron|UMODL1_ENST00000400424.2_Intron|C21orf128_ENST00000329015.2_Missense_Mutation_p.V98F|UMODL1_ENST00000400427.1_Intron	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1						adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GTCGTGAAGACGTTGATGGAT	0.537													C|||	1534	0.30631	0.1619	0.3862	5008	,	,		20588	0.381		0.3608	False		,,,				2504	0.3119				Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000329015.2																			0				lung(4)	4						c.(292-294)Gtc>Ttc		chromosome 21 open reading frame 128		C	,,,	921,3485	352.3+/-311.7	107,707,1389	218.0	134.0	162.0		,,,	-4.2	0.0	21	dbSNP_79	162	3077,5523	472.3+/-368.3	563,1951,1786	no	intron,intron,intron,intron	UMODL1	NM_001004416.2,NM_001199527.1,NM_001199528.2,NM_173568.3	,,,	670,2658,3175	AA,AC,CC		35.7791,20.9033,30.7397	,,,	,,,	43523941	3998,9008	2203	4300	6503	SO:0001627	intron_variant	150147							g.chr21:43523941C>A		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1300-37C>A	21.37:g.43523941C>A						UMODL1_ENST00000408989.2_Intron|UMODL1_ENST00000408910.2_Intron|UMODL1_ENST00000400427.1_Intron|UMODL1_ENST00000400424.1_Intron	p.V98F							2	443	-								C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.292G>T	CCDS42936.1	710	0.3250915750915751	91	0.18495934959349594	126	0.34806629834254144	212	0.3706293706293706	281	0.370712401055409	C	9.178	1.022937	0.19433	0.209033	0.357791	ENSG00000184385	ENST00000329015	T	0.55588	0.51	2.57	-4.19	0.03835	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.17667	0.023	B	0.18561	0.022	T	0.37865	-0.9687	7	0.87932	D	0	.	4.3999	0.11381	0.175:0.207:0.0:0.618	rs220111;rs491691;rs17486704;rs17855828;rs56457178;rs57142892;rs220111	98	Q8N2C9	CU128_HUMAN	F	98	ENSP00000328495:V98F	ENSP00000328495:V98F	V	-	1	0	C21orf128	42397010	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.723000	0.04952	-1.129000	0.02918	-0.768000	0.03414	GTC		0.537	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			9	262	1	0	7.48243e-07	1	7.80425e-07	9	262				
LOC645752	645752	broad.mit.edu	37	15	78211164	78211164	+	lincRNA	SNP	G	G	A	rs12592306	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr15:78211164G>A	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							TGTGGTTCTGGAAGAGCACGA	0.592													-|||	3827	0.764177	0.6399	0.7334	5008	,	,		10722	0.8671		0.9314	False		,,,				2504	0.6759					ENST00000565869.1																			0																																																			0							g.chr15:78211164G>A																													15.37:g.78211164G>A						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.592	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			14	524	0	0	0	1	0	14	524				
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53							151.0	112.0	125.0					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577539G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W	p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	874	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		72	132	0	0	0	1	0	72	132				
OR2M3	127062	broad.mit.edu	37	1	248366501	248366501	+	Silent	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:248366501C>T	ENST00000456743.1	+	1	170	c.132C>T	c.(130-132)gtC>gtT	p.V44V		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GAAACTCTGTCATGGTTCTCC	0.547																																						ENST00000456743.1																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(130-132)gtC>gtT		olfactory receptor, family 2, subfamily M, member 3							253.0	245.0	248.0					1																	248366501		2203	4298	6501	SO:0001819	synonymous_variant	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366501C>T		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.132C>T	1.37:g.248366501C>T							p.V44V	NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	170	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		44					B9EH06|Q6IEY0	Silent	SNP	ENST00000456743.1	37	c.132C>T	CCDS31107.1																																																																																				0.547	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		364	1694	0	0	0	1	0	364	1694				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240745	39240745	+	Missense_Mutation	SNP	A	A	G	rs199744933		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr17:39240745A>G	ENST00000391417.4	+	1	287	c.287A>G	c.(286-288)aAg>aGg	p.K96R		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	121	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						agctgctgcaagccccagtgc	0.682																																						ENST00000391417.4																			0				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(286-288)aAg>aGg		keratin associated protein 4-7							9.0	15.0	13.0					17																	39240745		684	1562	2246	SO:0001583	missense	100132476							g.chr17:39240745A>G	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.287A>G	17.37:g.39240745A>G	ENSP00000375236:p.Lys96Arg						p.K96R	NM_033061.3	NP_149050.3					1	287	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.287A>G	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.517953	0.00151	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.00576	6.45	3.54	-2.1	0.07210	.	2.018020	0.03642	N	0.239726	T	0.00300	0.0009	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40459	-0.9562	9	0.02654	T	1	.	4.8381	0.13474	0.449:0.158:0.393:0.0	.	96	Q9BYR0	KRA47_HUMAN	R	96;87	ENSP00000375236:K96R	ENSP00000375236:K96R	K	+	2	0	KRTAP4-9;KRTAP4-7	36494271	0.000000	0.05858	0.003000	0.11579	0.031000	0.12232	0.058000	0.14301	-0.272000	0.09259	-1.349000	0.01238	AAG		0.682	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			10	176	0	0	0	1	0	10	176				
CYP11A1	1583	broad.mit.edu	37	15	74636261	74636261	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr15:74636261A>G	ENST00000268053.6	-	4	852	c.698T>C	c.(697-699)tTc>tCc	p.F233S	CYP11A1_ENST00000419019.2_Missense_Mutation_p.F75S|CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000358632.4_Missense_Mutation_p.F75S	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	233					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	GGCATCAATGAATCGCTGGGC	0.572																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	ENST00000358632.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(223-225)tTc>tCc		cytochrome P450, family 11, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)						147.0	138.0	141.0					15																	74636261		2197	4296	6493	SO:0001583	missense	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74636261A>G	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.698T>C	15.37:g.74636261A>G	ENSP00000268053:p.Phe233Ser					CYP11A1_ENST00000268053.6_Missense_Mutation_p.F233S|CYP11A1_ENST00000419019.2_Missense_Mutation_p.F75S|CYP11A1_ENST00000541301.1_3'UTR	p.F75S	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN			4	919	-			233					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	37	c.224T>C	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.304450	0.60305	.	.	ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000450547	T;T;T	0.71461	-0.57;-0.57;-0.57	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	D	0.85965	0.5820	M	0.89658	3.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.88863	0.3327	10	0.87932	D	0	-18.212	13.221	0.59887	1.0:0.0:0.0:0.0	.	203;233	B4DTE5;P05108	.;CP11A_HUMAN	S	233;75;75;145	ENSP00000268053:F233S;ENSP00000351455:F75S;ENSP00000405488:F75S	ENSP00000268053:F233S	F	-	2	0	CYP11A1	72423314	1.000000	0.71417	0.972000	0.41901	0.164000	0.22412	8.511000	0.90535	1.617000	0.50277	0.439000	0.28862	TTC		0.572	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			177	248	0	0	0	1	0	177	248				
RSPO1	284654	broad.mit.edu	37	1	38078467	38078469	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:38078467_38078469delTGC	ENST00000401069.1	-	7	1462_1464	c.750_752delGCA	c.(748-753)cagcaa>caa	p.250_251QQ>Q	RSPO1_ENST00000373059.1_In_Frame_Del_p.223_224QQ>Q|RSPO1_ENST00000401071.2_In_Frame_Del_p.187_188QQ>Q|RSPO1_ENST00000356545.2_In_Frame_Del_p.250_251QQ>Q|RSPO1_ENST00000401068.1_In_Frame_Del_p.250_251QQ>Q|RSPO1_ENST00000401070.1_In_Frame_Del_p.187_188QQ>Q	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	250					canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACTGTCCCTTGCTGCTGCTGCT	0.621																																					GBM(122;680 2230 27822 42821)	ENST00000356545.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12						c.(748-753)caa>ca		R-spondin 1			,,,	31,74,4091		12,0,7,2,70,2007					,,,	2.3	1.0			96	37,0,8137		16,0,5,0,0,4066	no	codingComplex,codingComplex,codingComplex,codingComplex	RSPO1	NM_001242910.1,NM_001242909.1,NM_001242908.1,NM_001038633.3	,,,	28,0,12,2,70,6073	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4527,2.5024,1.1479	,,,	,,,		68,74,12228				SO:0001651	inframe_deletion	284654				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	g.chr1:38078467_38078469delTGC	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"""Endogenous ligands"""	21679	protein-coding gene	gene with protein product		609595	"""R-spondin homolog (Xenopus laevis)"""				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.750_752delGCA	1.37:g.38078476_38078478delTGC	ENSP00000383847:p.Gln251del					RSPO1_ENST00000401069.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401070.1_In_Frame_Del_p.QQ187del|RSPO1_ENST00000401068.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401071.2_In_Frame_Del_p.QQ187del|RSPO1_ENST00000373059.1_In_Frame_Del_p.QQ223del	p.QQ250del	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN			8	1537_1539	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	250					A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	In_Frame_Del	DEL	ENST00000401069.1	37	c.750_752delGCA	CCDS41304.1																																																																																				0.621	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640		7	948						7	948	---	---	---	---
CYP4Z2P	163720	broad.mit.edu	37	1	47310359	47310360	+	RNA	INS	-	-	T	rs372212671		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:47310359_47310360insT	ENST00000505841.1	-	0	1269					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										CAAAAACAAAACCCTAGATATT	0.421																																						ENST00000505841.1																			0																																																			0							g.chr1:47310359_47310360insT	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47310359_47310360insT								NR_002788.2						0	1269	-								Q66ZJ5	RNA	INS	ENST00000505841.1	37																																																																																						0.421	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		13	59						13	59	---	---	---	---
CYP4Z2P	163720	broad.mit.edu	37	1	47325282	47325282	+	RNA	DEL	A	A	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:47325282delA	ENST00000505841.1	-	0	1204					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										ATTTCAATCCAAACATAGCTG	0.393																																						ENST00000505841.1																			0																																																			0							g.chr1:47325282delA	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47325282delA								NR_002788.2						0	1204	-								Q66ZJ5	RNA	DEL	ENST00000505841.1	37																																																																																						0.393	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		8	223						8	223	---	---	---	---
JAK1	3716	broad.mit.edu	37	1	65306996	65306997	+	Frame_Shift_Ins	INS	-	-	T	rs202179869|rs375979659		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:65306996_65306997insT	ENST00000342505.4	-	19	2828_2829	c.2580_2581insA	c.(2578-2583)aaaccafs	p.P861fs	JAK1_ENST00000465376.1_5'Flank	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	861					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)	TCAGTTGCTGGTTTTTTTTCTG	0.47			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.(2578-2583)aacagcfs		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.chr1:65306996_65306997insT	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.2581dupA	1.37:g.65307004_65307004dupT	ENSP00000343204:p.Pro861fs						p.NS860fs	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	19	2828_2829	-			860					Q59GQ2|Q9UD26	Frame_Shift_Ins	INS	ENST00000342505.4	37	c.2580_2581insA	CCDS41346.1																																																																																				0.470	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		8	576						8	576	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103355065	103355065	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:103355065delT	ENST00000370096.3	-	59	4722	c.4410delA	c.(4408-4410)aaafs	p.K1470fs	COL11A1_ENST00000358392.2_Frame_Shift_Del_p.K1482fs|COL11A1_ENST00000512756.1_Frame_Shift_Del_p.K1354fs|COL11A1_ENST00000353414.4_Frame_Shift_Del_p.K1431fs	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1470	Collagen-like 7.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTCGGTCACCTTTTTCCCCTT	0.408																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(4444-4446)aafs		collagen, type XI, alpha 1							75.0	72.0	73.0					1																	103355065		2203	4300	6503	SO:0001589	frameshift_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103355065delT	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4410delA	1.37:g.103355065delT	ENSP00000359114:p.Lys1470fs					COL11A1_ENST00000353414.4_Frame_Shift_Del_p.K1431fs|COL11A1_ENST00000370096.3_Frame_Shift_Del_p.K1470fs|COL11A1_ENST00000512756.1_Frame_Shift_Del_p.K1354fs	p.K1482fs	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	59	4763	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1470			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Frame_Shift_Del	DEL	ENST00000370096.3	37	c.4446delA	CCDS778.1																																																																																				0.408	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		7	501						7	501	---	---	---	---
EPS8L3	79574	broad.mit.edu	37	1	110300579	110300580	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:110300579_110300580insT	ENST00000361965.4	-	9	924_925	c.818_819insA	c.(817-819)aacfs	p.N273fs	EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.N273fs|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000369805.3_Frame_Shift_Ins_p.N274fs|EPS8L3_ENST00000494151.1_5'Flank	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	273						cytoplasm (GO:0005737)		p.N274fs*33(2)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CCTGGTCCTTGTTTTTTTTCCC	0.545																																						ENST00000369805.3																			2	Deletion - Frameshift(2)	p.N274fs*33(2)	ovary(1)|large_intestine(1)	breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32						c.(820-822)aaafs		EPS8-like 3			,,	1,4261		0,1,2130					,,	-3.4	0.0			208	4,8246		0,4,4121	no	frameshift,frameshift,frameshift	EPS8L3	NM_139053.2,NM_133181.3,NM_024526.3	,,	0,5,6251	A1A1,A1R,RR		0.0485,0.0235,0.04	,,	,,		5,12507				SO:0001589	frameshift_variant	79574					cytoplasm	protein binding	g.chr1:110300579_110300580insT	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.819dupA	1.37:g.110300587_110300587dupT	ENSP00000355255:p.Asn273fs					RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.K273fs|EPS8L3_ENST00000361965.4_Frame_Shift_Ins_p.K273fs	p.K274fs	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	9	1050_1051	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	273					A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Frame_Shift_Ins	INS	ENST00000361965.4	37	c.821_822insA	CCDS814.1																																																																																				0.545	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		8	745						8	745	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116645	121116645	+	lincRNA	DEL	T	T	-	rs377003181		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:121116645delT	ENST00000437515.1	-	0	329					NR_104189.1																						CAAGCCCCCCTTTAAAAAAAA	0.393																																						ENST00000437515.1																			0																																																			0							g.chr1:121116645delT																													1.37:g.121116645delT														0	329	-									RNA	DEL	ENST00000437515.1	37																																																																																						0.393	RP11-343N15.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098477.2			14	211						14	211	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137791	121137793	+	lincRNA	DEL	CCA	CCA	-	rs28552466|rs61625886|rs374710813	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:121137791_121137793delCCA	ENST00000417218.1	+	0	0				RP11-343N15.1_ENST00000437515.1_lincRNA																							ATTTCGCCCTCCACCGCCGCCGC	0.631																																						ENST00000437515.1																			0																																																			0							g.chr1:121137791_121137793delCCA																													1.37:g.121137791_121137793delCCA														0	329	-									RNA	DEL	ENST00000417218.1	37																																																																																						0.631	AL592494.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000036739.1			16	55						16	55	---	---	---	---
RP11-782C8.2	0	broad.mit.edu	37	1	143210446	143210446	+	lincRNA	DEL	T	T	-	rs530198275|rs376698056	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:143210446delT	ENST00000412204.2	-	0	624				RP11-782C8.1_ENST00000438000.1_lincRNA																							GTCCATATACTAAAAAGGTTA	0.284																																						ENST00000412204.2																			0																																																			0							g.chr1:143210446delT																													1.37:g.143210446delT						RP11-782C8.1_ENST00000438000.1_lincRNA								0	624	-									RNA	DEL	ENST00000412204.2	37																																																																																						0.284	RP11-782C8.2-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037567.2			12	74						12	74	---	---	---	---
RP6-206I17.1	0	broad.mit.edu	37	1	143743290	143743291	+	lincRNA	INS	-	-	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:143743290_143743291insA	ENST00000445753.1	-	0	210																											CTGAGTATCTGAATCTGAAACA	0.475																																						ENST00000445753.1																			0																																																			0							g.chr1:143743290_143743291insA																													1.37:g.143743292_143743292dupA														0	210	-									RNA	INS	ENST00000445753.1	37																																																																																						0.475	RP6-206I17.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037956.1			8	514						8	514	---	---	---	---
SRGAP2B	647135	broad.mit.edu	37	1	144043905	144043906	+	RNA	INS	-	-	G	rs368205479|rs371276355		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:144043905_144043906insG	ENST00000467933.1	+	0	1108							P0DMP2	SRG2B_HUMAN	SLIT-ROBO Rho GTPase activating protein 2B						nervous system development (GO:0007399)												tcgctcacgctggagctgtaga	0.535																																						ENST00000467933.1																			0																																																			0							g.chr1:144043905_144043906insG		CCDS72854.1	1q21.1	2014-07-10	2013-02-13	2012-05-08	ENSG00000196369	ENSG00000196369			35237	protein-coding gene	gene with protein product		614703	"""SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2"", ""SLIT-ROBO Rho GTPase activating protein 2B (pseudogene)"""	SRGAP2P2		22559943, 22559944	Standard	NM_001271870		Approved		uc010oxm.1	P0DMP2	OTTHUMG00000041442		1.37:g.144043907_144043907dupG														0	1108	+									RNA	INS	ENST00000467933.1	37																																																																																						0.535	SRGAP2B-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352915.1	NM_001271870		14	124						14	124	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145115659	145115666	+	RNA	DEL	ATTTTTAA	ATTTTTAA	-	rs587597663|rs542107129	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:145115659_145115666delATTTTTAA	ENST00000453618.1	+	0	820							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											CATTTTGGTTATTTTTAATGCCTTAATA	0.327														2494	0.498003	0.5	0.4971	5008	,	,		83549	0.4921		0.492	False		,,,				2504	0.5082					ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145115659_145115666delATTTTTAA	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145115659_145115666delATTTTTAA										O75396	SC22B_HUMAN			0	820	+								A8K1G0	RNA	DEL	ENST00000453618.1	37																																																																																						0.327	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		62	225						62	225	---	---	---	---
POLR3GL	84265	broad.mit.edu	37	1	145457040	145457042	+	In_Frame_Del	DEL	TCT	TCT	-	rs587765256		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:145457040_145457042delTCT	ENST00000369314.1	-	7	625_627	c.519_521delAGA	c.(517-522)gaagag>gag	p.173_174EE>E	POLR3GL_ENST00000369313.3_In_Frame_Del_p.150_151EE>E	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like	173	Glu-rich.				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)|transcription initiation from RNA polymerase III promoter (GO:0006384)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ctcttccttctcttcttcttctt	0.448																																						ENST00000369314.1																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(517-522)gag>ga		polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like																																				SO:0001651	inframe_deletion	84265							g.chr1:145457040_145457042delTCT	BC004355	CCDS72875.1	1q21.1	2008-02-05	2006-12-14		ENSG00000121851	ENSG00000121851			28466	protein-coding gene	gene with protein product			"""polymerase (RNA) III (DNA directed) polypeptide G (32kD) like"""			12477932	Standard	NM_032305		Approved	flj32422, MGC3200	uc001enp.1	Q9BT43	OTTHUMG00000013739	ENST00000369314.1:c.519_521delAGA	1.37:g.145457049_145457051delTCT	ENSP00000358320:p.Glu174del					POLR3GL_ENST00000369313.3_In_Frame_Del_p.EE150del	p.EE173del	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN			7	625_627	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		173			Glu-rich.		B1MVG5	In_Frame_Del	DEL	ENST00000369314.1	37	c.519_521delAGA	CCDS914.1																																																																																				0.448	POLR3GL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038510.1	NM_032305		8	215						8	215	---	---	---	---
ADAMTSL4	54507	broad.mit.edu	37	1	150530506	150530506	+	Frame_Shift_Del	DEL	G	G	-	rs149280379		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:150530506delG	ENST00000369038.2	+	12	2464	c.2263delG	c.(2263-2265)gggfs	p.G758fs	ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000271643.4_Frame_Shift_Del_p.G758fs			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	758	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCAGGAATTTGGGGGGGGTGG	0.692																																						ENST00000271643.4																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(2263-2265)ggfs		ADAMTS-like 4							41.0	49.0	46.0					1																	150530506		2147	4195	6342	SO:0001589	frameshift_variant	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150530506delG	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2263delG	1.37:g.150530506delG	ENSP00000358034:p.Gly758fs					ADAMTSL4_ENST00000369038.2_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs|ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs	p.G758fs	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		14	2499	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		758			TSP type-1 2.		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Frame_Shift_Del	DEL	ENST00000369038.2	37	c.2263delG	CCDS955.1																																																																																				0.692	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		12	1105						12	1105	---	---	---	---
SPRR4	163778	broad.mit.edu	37	1	152944390	152944392	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:152944390_152944392delGCA	ENST00000328051.2	+	2	73_75	c.24_26delGCA	c.(22-27)cggcag>cgg	p.Q12del		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	12	Gln-rich.				keratinization (GO:0031424)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agcagcagcggcagcagcagcag	0.552																																						ENST00000328051.2																			0				lung(1)|prostate(1)	2						c.(22-27)cgg>cg		small proline-rich protein 4																																				SO:0001651	inframe_deletion	163778				keratinization|peptide cross-linking	cell cortex		g.chr1:152944390_152944392delGCA	AF335109	CCDS1031.1	1q21.3	2008-02-05	2006-11-29		ENSG00000184148	ENSG00000184148			23173	protein-coding gene	gene with protein product						11719550, 11279051	Standard	NM_173080		Approved		uc001fav.1	Q96PI1	OTTHUMG00000012450	ENST00000328051.2:c.24_26delGCA	1.37:g.152944399_152944401delGCA	ENSP00000332163:p.Gln12del						p.RQ8del	NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	73_75	+	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		8			Gln-rich.		Q2M1Y7|Q5T522	In_Frame_Del	DEL	ENST00000328051.2	37	c.24_26delGCA	CCDS1031.1																																																																																				0.552	SPRR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034663.1	NM_173080		9	887						9	887	---	---	---	---
KCNN3	3782	broad.mit.edu	37	1	154680586	154680588	+	In_Frame_Del	DEL	GCT	GCT	-	rs149440400		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:154680586_154680588delGCT	ENST00000271915.4	-	8	2375_2377	c.2060_2062delAGC	c.(2059-2064)cagctc>ctc	p.Q687del	KCNN3_ENST00000358505.2_In_Frame_Del_p.Q374del|KCNN3_ENST00000515643.1_5'UTR|KCNN3_ENST00000361147.4_In_Frame_Del_p.Q382del	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	692					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GCAGACAGGAGCTGCTGCTGCTG	0.64																																						ENST00000271915.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(2059-2064)ctc>c		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3																																				SO:0001651	inframe_deletion	3782					integral to membrane	calmodulin binding	g.chr1:154680586_154680588delGCT	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.2060_2062delAGC	1.37:g.154680595_154680597delGCT	ENSP00000271915:p.Gln687del					KCNN3_ENST00000358505.2_In_Frame_Del_p.QL374del|KCNN3_ENST00000361147.4_In_Frame_Del_p.QL382del|KCNN3_ENST00000515643.1_5'UTR	p.QL687del	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		8	2375_2377	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		692					B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Del	DEL	ENST00000271915.4	37	c.2060_2062delAGC	CCDS30880.1																																																																																				0.640	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		24	1108						24	1108	---	---	---	---
KIAA0907	22889	broad.mit.edu	37	1	155886422	155886423	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:155886422_155886423delCT	ENST00000368321.3	-	12	1569_1570	c.1546_1547delAG	c.(1546-1548)aggfs	p.R516fs	KIAA0907_ENST00000368320.3_Frame_Shift_Del_p.R516fs	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	516							RNA binding (GO:0003723)	p.R516fs*21(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTACCTGTCCCTCTCTCTCTCT	0.396																																						ENST00000368320.3																			1	Deletion - Frameshift(1)	p.R516fs*21(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1546-1548)gfs		KIAA0907																																				SO:0001589	frameshift_variant	22889							g.chr1:155886422_155886423delCT	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1546_1547delAG	1.37:g.155886432_155886433delCT	ENSP00000357304:p.Arg516fs					KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs	p.R516fs			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		12	1571_1572	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		516					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Frame_Shift_Del	DEL	ENST00000368321.3	37	c.1546_1547delAG	CCDS30885.1																																																																																				0.396	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		20	1131						20	1131	---	---	---	---
CD1D	912	broad.mit.edu	37	1	158151257	158151257	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:158151257delT	ENST00000368171.3	+	3	573	c.74delT	c.(73-75)cttfs	p.L25fs		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	25					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CCGCAAAGGCTTTTCCCCCTC	0.592																																						ENST00000368171.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.(73-75)ctfs		CD1d molecule							202.0	226.0	218.0					1																	158151257		2203	4300	6503	SO:0001589	frameshift_variant	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158151257delT	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.74delT	1.37:g.158151257delT	ENSP00000357153:p.Leu25fs						p.L25fs	NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN			3	573	+	all_hematologic(112;0.0378)		25					D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Frame_Shift_Del	DEL	ENST00000368171.3	37	c.74delT	CCDS1173.1																																																																																				0.592	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		11	3189						11	3189	---	---	---	---
PCP4L1	654790	broad.mit.edu	37	1	161254154	161254156	+	In_Frame_Del	DEL	GGA	GGA	-	rs549268381		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:161254154_161254156delGGA	ENST00000504449.1	+	3	338_340	c.90_92delGGA	c.(88-93)gcggag>gcg	p.E35del		NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	Purkinje cell protein 4 like 1	35								p.A30A(1)|p.E35delE(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCAAGAAGGCGGAGGAGGAGGAG	0.488																																						ENST00000504449.1																			2	Substitution - coding silent(1)|Deletion - In frame(1)	p.A30A(1)|p.E35delE(1)	large_intestine(1)|lung(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(88-93)gcg>gc		Purkinje cell protein 4 like 1																																				SO:0001651	inframe_deletion	654790							g.chr1:161254154_161254156delGGA	BC028905	CCDS53412.1	1q23.3	2006-02-27	2006-02-27		ENSG00000248485	ENSG00000248485			20448	protein-coding gene	gene with protein product			"""purkinje cell protein 4 like 1"""				Standard	NM_001102566		Approved	IQM1	uc001gad.3	A6NKN8	OTTHUMG00000034340	ENST00000504449.1:c.90_92delGGA	1.37:g.161254163_161254165delGGA	ENSP00000426296:p.Glu35del						p.AE30del	NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	338_340	+	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		30					B2RV24|B9EJG4	In_Frame_Del	DEL	ENST00000504449.1	37	c.90_92delGGA	CCDS53412.1																																																																																				0.488	PCP4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082986.2			7	618						7	618	---	---	---	---
PRG4	10216	broad.mit.edu	37	1	186276283	186276285	+	In_Frame_Del	DEL	ACT	ACT	-	rs200031345|rs146673354|rs145095882	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:186276283_186276285delACT	ENST00000445192.2	+	7	1477_1479	c.1432_1434delACT	c.(1432-1434)actdel	p.T478del	PRG4_ENST00000367486.3_In_Frame_Del_p.T435del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_In_Frame_Del_p.T385del|PRG4_ENST00000367483.4_In_Frame_Del_p.T437del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	478	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.P479delP(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TGCACCCACCACTCCCAAAGAGC	0.655																																						ENST00000445192.2																			1	Deletion - In frame(1)	p.P479delP(1)	large_intestine(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1432-1434)del		proteoglycan 4																																				SO:0001651	inframe_deletion	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276283_186276285delACT	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1432_1434delACT	1.37:g.186276283_186276285delACT	ENSP00000399679:p.Thr478del					PRG4_ENST00000367485.4_In_Frame_Del_p.T385del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_In_Frame_Del_p.T435del|PRG4_ENST00000367483.4_In_Frame_Del_p.T437del	p.T478del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1477_1479	+			478			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	In_Frame_Del	DEL	ENST00000445192.2	37	c.1432_1434delACT	CCDS1369.1																																																																																				0.655	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		7	850						7	850	---	---	---	---
ZC3H11A	9877	broad.mit.edu	37	1	203786224	203786225	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:203786224_203786225insT	ENST00000545588.1	+	2	3853_3854	c.26_27insT	c.(25-30)tattttfs	p.YF9fs	ZC3H11A_ENST00000367212.3_Frame_Shift_Ins_p.YF9fs|ZC3H11A_ENST00000367214.1_Frame_Shift_Ins_p.YF9fs|ZC3H11A_ENST00000367210.1_Frame_Shift_Ins_p.YF9fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Ins_p.YF9fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	9					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAAGACTGCTATTTTTTTTTCT	0.371																																						ENST00000545588.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(25-27)tttfs		zinc finger CCCH-type containing 11A																																				SO:0001589	frameshift_variant	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203786224_203786225insT		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.35dupT	1.37:g.203786233_203786233dupT	ENSP00000438527:p.Tyr9fs					ZC3H11A_ENST00000367212.3_Frame_Shift_Ins_p.F9fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Ins_p.F9fs|ZC3H11A_ENST00000367210.1_Frame_Shift_Ins_p.F9fs|ZC3H11A_ENST00000367214.1_Frame_Shift_Ins_p.F9fs	p.F9fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		2	3853_3854	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		9					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Frame_Shift_Ins	INS	ENST00000545588.1	37	c.26_27insT	CCDS30978.1																																																																																				0.371	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		12	577						12	577	---	---	---	---
LYST	1130	broad.mit.edu	37	1	235922679	235922679	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:235922679delT	ENST00000389794.3	-	23	6648	c.6474delA	c.(6472-6474)aaafs	p.K2158fs	LYST_ENST00000389793.2_Frame_Shift_Del_p.K2158fs|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2158					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CCTCTTTGCCTTTTTTCAGTG	0.433																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(6472-6474)aafs		lysosomal trafficking regulator							165.0	157.0	160.0					1																	235922679		2203	4300	6503	SO:0001589	frameshift_variant	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235922679delT	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.6474delA	1.37:g.235922679delT	ENSP00000374444:p.Lys2158fs					LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Frame_Shift_Del_p.K2158fs	p.K2158fs			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		23	6648	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	2158					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Frame_Shift_Del	DEL	ENST00000389794.3	37	c.6474delA	CCDS31062.1																																																																																				0.433	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			7	745						7	745	---	---	---	---
OR2T2	401992	broad.mit.edu	37	1	248616705	248616711	+	Frame_Shift_Del	DEL	TGCTGCG	TGCTGCG	-	rs199823862|rs372931983		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:248616705_248616711delTGCTGCG	ENST00000342927.3	+	1	629_635	c.607_613delTGCTGCG	c.(607-615)tgctgcgtgfs	p.CCV203fs		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGTATGCCTGCTGCGTGCTGATGCT	0.527																																						ENST00000342927.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37						c.(607-615)tgfs		olfactory receptor, family 2, subfamily T, member 2				51,3755		2,47,1854						-2.5	0.6			76	261,7371		12,237,3567	no	frameshift	OR2T2	NM_001004136.1		14,284,5421	A1A1,A1R,RR		3.4198,1.34,2.7277				312,11126				SO:0001589	frameshift_variant	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616705_248616711delTGCTGCG	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.607_613delTGCTGCG	1.37:g.248616705_248616711delTGCTGCG	ENSP00000343062:p.Cys203fs						p.CCV203fs	NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	629_635	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		203					B2RNM1|B9EH01	Frame_Shift_Del	DEL	ENST00000342927.3	37	c.607_613delTGCTGCG	CCDS31116.1																																																																																				0.527	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		22	483						22	483	---	---	---	---
SMC6	79677	broad.mit.edu	37	2	17898126	17898126	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:17898126delT	ENST00000448223.2	-	14	1497	c.1228delA	c.(1228-1230)atafs	p.I410fs	SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs|SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs|SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	410					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACCAAGATATTTTTTTTTGT	0.343																																						ENST00000448223.2																			0				NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43						c.(1228-1230)tafs		structural maintenance of chromosomes 6							82.0	78.0	80.0					2																	17898126		2203	4297	6500	SO:0001589	frameshift_variant	79677				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr2:17898126delT	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.1228delA	2.37:g.17898126delT	ENSP00000404092:p.Ile410fs					SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs|SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs|SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs	p.I410fs	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN			14	1497	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		410					A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Frame_Shift_Del	DEL	ENST00000448223.2	37	c.1228delA	CCDS1690.1																																																																																				0.343	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		7	241						7	241	---	---	---	---
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	CTG	-	rs539079430		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:26022304_26022306delCTG	ENST00000435504.4	-	5	644_646	c.351_353delCAG	c.(349-354)agcagt>agt	p.117_118SS>S	ASXL2_ENST00000336112.4_In_Frame_Del_p.89_90SS>S|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	117	Ser-rich.				adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(349-354)agt>ag		additional sex combs like 2 (Drosophila)																																				SO:0001651	inframe_deletion	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:26022304_26022306delCTG			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.351_353delCAG	2.37:g.26022313_26022315delCTG	ENSP00000391447:p.Ser118del					ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR	p.SS117del			Q76L83	ASXL2_HUMAN			5	644_646	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		117			Ser-rich.		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	In_Frame_Del	DEL	ENST00000435504.4	37	c.351_353delCAG																																																																																					0.463	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		12	773						12	773	---	---	---	---
CEBPZ	10153	broad.mit.edu	37	2	37454908	37454908	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:37454908delT	ENST00000234170.5	-	2	1573	c.1428delA	c.(1426-1428)aaafs	p.K476fs		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	476					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|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)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				ATTCAACATCTTTTTTTTTGA	0.368																																						ENST00000234170.5																			0				breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(1426-1428)aafs		CCAAT/enhancer binding protein (C/EBP), zeta							51.0	52.0	52.0					2																	37454908		2203	4300	6503	SO:0001589	frameshift_variant	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37454908delT	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.1428delA	2.37:g.37454908delT	ENSP00000234170:p.Lys476fs						p.K476fs	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN			2	1573	-		all_hematologic(82;0.21)	476					Q8NE75	Frame_Shift_Del	DEL	ENST00000234170.5	37	c.1428delA	CCDS1787.1																																																																																				0.368	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		10	299						10	299	---	---	---	---
DHX57	90957	broad.mit.edu	37	2	39095411	39095413	+	In_Frame_Del	DEL	CCA	CCA	-	rs199521315|rs372484063|rs199910361	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:39095411_39095413delCCA	ENST00000295373.6	-	2	261_263	c.135_137delTGG	c.(133-138)ggtgga>gga	p.45_46GG>G	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	45	Gly-rich.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				Gccgccacctccaccaccaccac	0.532														22	0.00439297	0.0159	0.0014	5008	,	,		13864	0.0		0.0	False		,,,				2504	0.0				Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(133-138)gga>gg		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57																																				SO:0001651	inframe_deletion	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39095411_39095413delCCA	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.135_137delTGG	2.37:g.39095420_39095422delCCA	ENSP00000295373:p.Gly49del						p.GG47del	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			2	261_263	-		all_hematologic(82;0.248)	47			Gly-rich.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	In_Frame_Del	DEL	ENST00000295373.6	37	c.135_137delTGG	CCDS1800.1																																																																																				0.532	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		12	534						12	534	---	---	---	---
RNF103	7844	broad.mit.edu	37	2	86831015	86831015	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:86831015delT	ENST00000237455.4	-	4	2977	c.2009delA	c.(2008-2010)aagfs	p.K670fs	AC015971.2_ENST00000439077.1_RNA|RNF103_ENST00000477307.1_5'Flank|AC015971.2_ENST00000426549.1_RNA|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	670					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						ATATGGCTGCTTTTTTTTATA	0.443																																						ENST00000237455.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						c.(2008-2010)agfs		ring finger protein 103							87.0	88.0	88.0					2																	86831015		2203	4300	6503	SO:0001589	frameshift_variant	7844				central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:86831015delT	D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.2009delA	2.37:g.86831015delT	ENSP00000237455:p.Lys670fs					CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000597638.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000439077.1_RNA	p.K670fs	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN			4	2977	-			670					A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Frame_Shift_Del	DEL	ENST00000237455.4	37	c.2009delA	CCDS33237.1																																																																																				0.443	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667		7	626						7	626	---	---	---	---
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:98427639delT	ENST00000186436.5	-	18	2148	c.1920delA	c.(1918-1920)aaafs	p.K640fs		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	640						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCCCCTCTAATTTTTTTGCAG	0.393																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(1918-1920)aafs		transmembrane protein 131							277.0	265.0	269.0					2																	98427639		1831	4095	5926	SO:0001589	frameshift_variant	23505					integral to membrane		g.chr2:98427639delT	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1920delA	2.37:g.98427639delT	ENSP00000186436:p.Lys640fs						p.K640fs	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			18	2148	-			640						Frame_Shift_Del	DEL	ENST00000186436.5	37	c.1920delA	CCDS46368.1																																																																																				0.393	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		7	1404						7	1404	---	---	---	---
FOXD4L1	200350	broad.mit.edu	37	2	114257058	114257059	+	In_Frame_Ins	INS	-	-	GGC	rs369535331|rs557578751	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:114257058_114257059insGGC	ENST00000306507.5	+	1	398_399	c.225_226insGGC	c.(226-228)ggc>GGCggc	p.76_76G>GG		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	76					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G76C(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						AGCACATCGAGGGCGGCGGCCC	0.708														163	0.0325479	0.0045	0.0403	5008	,	,		10259	0.0942		0.006	False		,,,				2504	0.0286					ENST00000306507.5																			1	Substitution - Missense(1)	p.G76C(1)	breast(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						c.(223-228)gagcgg>gaGGCgcgg		forkhead box D4-like 1																																				SO:0001652	inframe_insertion	200350				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:114257058_114257059insGGC	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.232_234dupGGC	2.37:g.114257065_114257067dupGGC	ENSP00000302756:p.Gly78dup						p.75_76ER>EAR	NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN			1	398_399	+			75					B3KWN1|B9EGF3	In_Frame_Ins	INS	ENST00000306507.5	37	c.225_226insGGC	CCDS2117.1																																																																																				0.708	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184		7	490						7	490	---	---	---	---
PLA2R1	22925	broad.mit.edu	37	2	160801441	160801442	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:160801441_160801442insT	ENST00000283243.7	-	28	4325_4326	c.4119_4120insA	c.(4117-4122)aaaggcfs	p.G1374fs	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1374	C-type lectin 8. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CATATAAAGCCTTTTTTTTCTT	0.401																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(4117-4122)aagcttfs		phospholipase A2 receptor 1, 180kDa																																				SO:0001589	frameshift_variant	0				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160801441_160801442insT	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.4120dupA	2.37:g.160801449_160801449dupT	ENSP00000283243:p.Gly1374fs					PLA2R1_ENST00000460710.1_5'UTR	p.L1374fs	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN			28	4325_4326	-			1374			C-type lectin 8.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Frame_Shift_Ins	INS	ENST00000283243.7	37	c.4119_4120insA	CCDS33309.1																																																																																				0.401	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			10	1059						10	1059	---	---	---	---
COBLL1	22837	broad.mit.edu	37	2	165551296	165551296	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:165551296delA	ENST00000392717.2	-	13	2838	c.2834delT	c.(2833-2835)ttgfs	p.L945fs	COBLL1_ENST00000342193.4_Frame_Shift_Del_p.L907fs|COBLL1_ENST00000409184.3_Frame_Shift_Del_p.L907fs|COBLL1_ENST00000194871.6_Frame_Shift_Del_p.L974fs|COBLL1_ENST00000375458.2_Frame_Shift_Del_p.L869fs			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	945						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CTGCATCTGCAAAAAAAAAGA	0.418																																						ENST00000375458.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(2605-2607)tgfs		cordon-bleu WH2 repeat protein-like 1							32.0	35.0	34.0					2																	165551296		2203	4300	6503	SO:0001589	frameshift_variant	22837							g.chr2:165551296delA	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2834delT	2.37:g.165551296delA	ENSP00000376478:p.Leu945fs					COBLL1_ENST00000409184.3_Frame_Shift_Del_p.L907fs|COBLL1_ENST00000342193.4_Frame_Shift_Del_p.L907fs|COBLL1_ENST00000392717.2_Frame_Shift_Del_p.L945fs|COBLL1_ENST00000194871.6_Frame_Shift_Del_p.L974fs	p.L869fs	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN			11	2827	-			945					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Frame_Shift_Del	DEL	ENST00000392717.2	37	c.2606delT																																																																																					0.418	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		8	317						8	317	---	---	---	---
KLHL41	10324	broad.mit.edu	37	2	170366496	170366496	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:170366496delA	ENST00000284669.1	+	1	285	c.208delA	c.(208-210)aaafs	p.K72fs	BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	72	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											TGATGAGGCGAAAAAAAAGGA	0.388																																						ENST00000284669.1																			0											c.(208-210)aafs		kelch-like family member 41							145.0	144.0	145.0					2																	170366496		2203	4300	6503	SO:0001589	frameshift_variant	10324							g.chr2:170366496delA	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.208delA	2.37:g.170366496delA	ENSP00000284669:p.Lys72fs					BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	p.K72fs	NM_006063.2	NP_006054.2					1	285	+								Q53R42	Frame_Shift_Del	DEL	ENST00000284669.1	37	c.208delA	CCDS2234.1																																																																																				0.388	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		10	1085						10	1085	---	---	---	---
HIBCH	26275	broad.mit.edu	37	2	191161629	191161629	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:191161629delT	ENST00000359678.5	-	3	423	c.129delA	c.(127-129)aaafs	p.K43fs	HIBCH_ENST00000392332.3_Frame_Shift_Del_p.K43fs	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	43					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			CCGTGCAACCTTTTTTTTCCA	0.353																																						ENST00000392332.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13						c.(127-129)aafs		3-hydroxyisobutyryl-CoA hydrolase							116.0	104.0	108.0					2																	191161629		2203	4300	6503	SO:0001589	frameshift_variant	26275				branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding	g.chr2:191161629delT	U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"""3-hydroxyisobutyryl-Coenzyme A hydrolase"""			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.129delA	2.37:g.191161629delT	ENSP00000352706:p.Lys43fs					HIBCH_ENST00000359678.5_Frame_Shift_Del_p.K43fs	p.K43fs			Q6NVY1	HIBCH_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)		3	268	-			43					D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Frame_Shift_Del	DEL	ENST00000359678.5	37	c.129delA	CCDS2304.1																																																																																				0.353	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255933.1			8	401						8	401	---	---	---	---
TNS1	7145	broad.mit.edu	37	2	218712887	218712889	+	In_Frame_Del	DEL	GCT	GCT	-	rs375721540|rs574153391		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:218712887_218712889delGCT	ENST00000171887.4	-	17	2428_2430	c.1976_1978delAGC	c.(1975-1980)cagcct>cct	p.Q659del	TNS1_ENST00000480665.1_5'Flank|TNS1_ENST00000419504.1_In_Frame_Del_p.Q659del|TNS1_ENST00000430930.1_In_Frame_Del_p.Q659del	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	659	Gln-rich.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGTGGGCGAGgctgctgctgctg	0.66																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1975-1980)cct>c		tensin 1																																				SO:0001651	inframe_deletion	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218712887_218712889delGCT	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1976_1978delAGC	2.37:g.218712896_218712898delGCT	ENSP00000171887:p.Gln659del					TNS1_ENST00000430930.1_In_Frame_Del_p.QP659del|TNS1_ENST00000419504.1_In_Frame_Del_p.QP659del	p.QP659del	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	17	2428_2430	-		Renal(207;0.0483)|Lung NSC(271;0.213)	659			Gln-rich.		Q4ZG71|Q6IPI5	In_Frame_Del	DEL	ENST00000171887.4	37	c.1976_1978delAGC	CCDS2407.1																																																																																				0.660	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		12	233						12	233	---	---	---	---
SLC4A3	6508	broad.mit.edu	37	2	220496799	220496801	+	In_Frame_Del	DEL	GAA	GAA	-	rs557843124	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:220496799_220496801delGAA	ENST00000358055.3	+	7	1433_1435	c.921_923delGAA	c.(919-924)aggaag>agg	p.K313del	SLC4A3_ENST00000273063.6_In_Frame_Del_p.K340del|SLC4A3_ENST00000317151.3_In_Frame_Del_p.K313del|SLC4A3_ENST00000373760.2_In_Frame_Del_p.K313del|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373762.3_In_Frame_Del_p.K340del			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	313	Poly-Lys.				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTTCGCAGGAAGAAGAAGAAG	0.65														5	0.000998403	0.0	0.0058	5008	,	,		20005	0.001		0.0	False		,,,				2504	0.0					ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(919-924)agg>ag		solute carrier family 4 (anion exchanger), member 3			,	46,4208		1,44,2082					,	3.4	1.0			35	90,8146		2,86,4030	no	coding,coding	SLC4A3	NM_201574.2,NM_005070.3	,	3,130,6112	A1A1,A1R,RR		1.0928,1.0813,1.0889	,	,		136,12354				SO:0001651	inframe_deletion	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220496799_220496801delGAA		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.921_923delGAA	2.37:g.220496808_220496810delGAA	ENSP00000350756:p.Lys313del					SLC4A3_ENST00000373762.3_In_Frame_Del_p.RK334del|SLC4A3_ENST00000373760.2_In_Frame_Del_p.RK307del|SLC4A3_ENST00000273063.6_In_Frame_Del_p.RK334del|SLC4A3_ENST00000317151.3_In_Frame_Del_p.RK307del|SLC4A3_ENST00000497589.1_3'UTR	p.RK307del			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	1433_1435	+		Renal(207;0.0183)	307					A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	In_Frame_Del	DEL	ENST00000358055.3	37	c.921_923delGAA	CCDS2445.1																																																																																				0.650	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		9	526						9	526	---	---	---	---
EFHD1	80303	broad.mit.edu	37	2	233546363	233546365	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:233546363_233546365delGGA	ENST00000264059.3	+	4	1131_1133	c.654_656delGGA	c.(652-657)cgggag>cgg	p.E222del	EFHD1_ENST00000409708.1_In_Frame_Del_p.E110del|snoU13_ENST00000459149.1_RNA|EFHD1_ENST00000410095.1_In_Frame_Del_p.E110del|EFHD1_ENST00000409613.1_In_Frame_Del_p.E126del	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	222					neuron projection development (GO:0031175)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		AGCGGAAGCGGGAGGAGGAGGAG	0.547																																						ENST00000264059.3																			0				NS(1)|breast(1)|large_intestine(2)|lung(3)	7						c.(652-657)cgg>cg		EF-hand domain family, member D1																																				SO:0001651	inframe_deletion	80303						calcium ion binding|protein binding	g.chr2:233546363_233546365delGGA		CCDS2497.1, CCDS58755.1	2q37.1	2014-07-01	2005-01-25		ENSG00000115468	ENSG00000115468		"""EF-hand domain containing"""	29556	protein-coding gene	gene with protein product	"""swiprosin-2"""	611617	"""EF hand domain containing 1"""			21244694	Standard	NM_025202		Approved	FLJ13612	uc002vtc.3	Q9BUP0	OTTHUMG00000133263	ENST00000264059.3:c.654_656delGGA	2.37:g.233546372_233546374delGGA	ENSP00000264059:p.Glu222del					EFHD1_ENST00000410095.1_In_Frame_Del_p.RE106del|EFHD1_ENST00000409613.1_In_Frame_Del_p.RE122del|EFHD1_ENST00000409708.1_In_Frame_Del_p.RE106del	p.RE218del	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)	4	1131_1133	+		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)	218					B2RD83|E9PFH3|Q9BTF8|Q9H8I2|Q9HBQ0	In_Frame_Del	DEL	ENST00000264059.3	37	c.654_656delGGA	CCDS2497.1																																																																																				0.547	EFHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257040.2	NM_025202		7	722						7	722	---	---	---	---
GIGYF2	26058	broad.mit.edu	37	2	233681704	233681704	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:233681704delA	ENST00000409547.1	+	22	2643	c.2332delA	c.(2332-2334)aaafs	p.K778fs	GIGYF2_ENST00000373563.4_Frame_Shift_Del_p.K778fs|GIGYF2_ENST00000409451.3_Frame_Shift_Del_p.K799fs|GIGYF2_ENST00000409196.3_Frame_Shift_Del_p.K772fs|GIGYF2_ENST00000452341.2_Frame_Shift_Del_p.K609fs|GIGYF2_ENST00000373566.3_Frame_Shift_Del_p.K800fs|GIGYF2_ENST00000409480.1_Frame_Shift_Del_p.K800fs	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	778	Gln-rich.|Glu-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AGAAGAAAGGAAAAGGCGAGA	0.488																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(2398-2400)aafs		GRB10 interacting GYF protein 2							211.0	197.0	202.0					2																	233681704		2203	4300	6503	SO:0001589	frameshift_variant	26058				cell death		protein binding	g.chr2:233681704delA	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2332delA	2.37:g.233681704delA	ENSP00000386537:p.Lys778fs					GIGYF2_ENST00000409480.1_Frame_Shift_Del_p.K800fs|GIGYF2_ENST00000409547.1_Frame_Shift_Del_p.K778fs|GIGYF2_ENST00000452341.2_Frame_Shift_Del_p.K609fs|GIGYF2_ENST00000409451.3_Frame_Shift_Del_p.K799fs|GIGYF2_ENST00000409196.3_Frame_Shift_Del_p.K772fs|GIGYF2_ENST00000373563.4_Frame_Shift_Del_p.K778fs	p.K800fs			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	21	2595	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	778			Gln-rich.|Glu-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Frame_Shift_Del	DEL	ENST00000409547.1	37	c.2398delA	CCDS33401.1																																																																																				0.488	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		7	1558						7	1558	---	---	---	---
TRPM8	79054	broad.mit.edu	37	2	234879010	234879010	+	Frame_Shift_Del	DEL	C	C	-	rs201204922		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:234879010delC	ENST00000324695.4	+	17	2335	c.2295delC	c.(2293-2295)cacfs	p.H765fs	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	765					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CGGTGCCACACCCCCCCGAGC	0.577																																						ENST00000324695.4																			0				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66						c.(2293-2295)cafs		transient receptor potential cation channel, subfamily M, member 8	Menthol(DB00825)						309.0	295.0	300.0					2																	234879010		2203	4300	6503	SO:0001589	frameshift_variant	79054					integral to membrane		g.chr2:234879010delC	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2295delC	2.37:g.234879010delC	ENSP00000323926:p.His765fs					TRPM8_ENST00000433712.2_Intron	p.H765fs	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	17	2335	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	765					A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Frame_Shift_Del	DEL	ENST00000324695.4	37	c.2295delC	CCDS33407.1																																																																																				0.577	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		10	2500						10	2500	---	---	---	---
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	TCC	-	rs199680376		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:242738494_242738496delTCC	ENST00000192314.6	+	2	175_177	c.44_46delTCC	c.(43-48)atcctc>atc	p.L20del	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	20					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.L16I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTCCGGGTCATCCTCCTCCTCCT	0.631																																						ENST00000192314.6																			1	Substitution - Missense(1)	p.L16I(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14						c.(43-48)atc>a		galactose-3-O-sulfotransferase 2																																				SO:0001651	inframe_deletion	64090				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	g.chr2:242738494_242738496delTCC	AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"""Sulfotransferases, membrane-bound"""	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.44_46delTCC	2.37:g.242738503_242738505delTCC	ENSP00000192314:p.Leu20del						p.IL15del	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	2	175_177	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	15					Q17RK0|Q57Z52	In_Frame_Del	DEL	ENST00000192314.6	37	c.44_46delTCC	CCDS33427.1																																																																																				0.631	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322792.1	NM_022134		10	633						10	633	---	---	---	---
XPC	7508	broad.mit.edu	37	3	14219966	14219968	+	Splice_Site	DEL	CCT	CCT	-	rs72561774	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:14219966_14219968delCCT	ENST00000285021.7	-	1	315_317	c.101_103delAGG	c.(100-105)gaggat>gat	p.E34del	XPC_ENST00000449060.2_Splice_Site_p.E34del|LSM3_ENST00000306024.3_5'UTR	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	34	Glu-rich (acidic).|Poly-Glu.				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)	p.E34delE(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCGCTCTCACCCTCCTCCTCCTC	0.734			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group C"""			E		"""skin basal cell, skin squamous cell, melanoma"""			1	Deletion - In frame(1)	p.E34delE(1)	upper_aerodigestive_tract(1)	NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.e1+1	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C			,	315,1,3348		29,0,257,0,1,1545					,	5.2	1.0			23	706,1,7113		33,0,640,0,1,3236	no	codingComplex-near-splice,codingComplex-near-splice	XPC	NM_004628.4,NM_001145769.1	,	62,0,897,0,2,4781	A1A1,A1A2,A1R,A2A2,A2R,RR		9.0409,8.6245,8.908	,	,		1021,2,10461				SO:0001630	splice_region_variant	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14219966_14219968delCCT		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.103+1AGG>-	3.37:g.14219975_14219977delCCT						XPC_ENST00000449060.2_Splice_Site_p.ED34_splice|LSM3_ENST00000306024.3_5'UTR	p.ED34_splice	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			1	315_317	-			34			Glu-rich (acidic).|Poly-Glu.		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Splice_Site	DEL	ENST00000285021.7	37	c.103_splice	CCDS46763.1																																																																																				0.734	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628	In_Frame_Del	10	288						10	288	---	---	---	---
ARIH2	10425	broad.mit.edu	37	3	48965064	48965066	+	In_Frame_Del	DEL	GAA	GAA	-	rs367899872		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:48965064_48965066delGAA	ENST00000356401.4	+	3	412_414	c.73_75delGAA	c.(73-75)gaadel	p.E29del	ARIH2_ENST00000449376.1_In_Frame_Del_p.E29del|ARIH2_ENST00000490095.1_Intron	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	29	Asp/Glu-rich (acidic).|Poly-Glu.		E -> D (in dbSNP:rs34221642).		developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E25E(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		Tgaggaagaggaagaagaagaag	0.517																																						ENST00000356401.4																			1	Substitution - coding silent(1)	p.E25E(1)	large_intestine(1)	cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13						c.(73-75)del		ariadne RBR E3 ubiquitin protein ligase 2																																				SO:0001651	inframe_deletion	10425				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:48965064_48965066delGAA	AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"""all-trans retinoic acid inducible RING finger"""	605615	"""ariadne (Drosophila) homolog 2"", ""ariadne homolog 2 (Drosophila)"""			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.73_75delGAA	3.37:g.48965073_48965075delGAA	ENSP00000348769:p.Glu29del					ARIH2_ENST00000490095.1_Intron|ARIH2_ENST00000449376.1_In_Frame_Del_p.E29del	p.E29del	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)	3	412_414	+			29		E -> D (in dbSNP:rs34221642).	Asp/Glu-rich (acidic).|Poly-Glu.		Q9HBZ6|Q9UEM9	In_Frame_Del	DEL	ENST00000356401.4	37	c.73_75delGAA	CCDS2780.1																																																																																				0.517	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257525.1	NM_006321		8	137						8	137	---	---	---	---
APEH	327	broad.mit.edu	37	3	49723112	49723112	+	IGR	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:49723112delT	ENST00000296456.5	+	0	3220				MST1_ENST00000383728.3_3'UTR|MST1_ENST00000494828.2_5'Flank|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Frame_Shift_Del_p.N435fs	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCATCTGGGTTCCGGCAGAA	0.587																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1303-1305)acfs		macrophage stimulating 1 (hepatocyte growth factor-like)							43.0	42.0	43.0					3																	49723112		2203	4300	6503	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723112delT	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723112delT						MST1_ENST00000383728.3_3'UTR	p.N435fs	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	11	1665	-			421			Kringle 4.		Q9BQ33|Q9P0Y2	Frame_Shift_Del	DEL	ENST00000296456.5	37	c.1304delA	CCDS2801.1																																																																																				0.587	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			7	308						7	308	---	---	---	---
RNF123	63891	broad.mit.edu	37	3	49725275	49725279	+	5'Flank	DEL	GTGCT	GTGCT	-	rs370878670		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:49725275_49725279delGTGCT	ENST00000327697.6	+	0	0				MST1_ENST00000383728.3_Intron|MST1_ENST00000494828.2_Intron|MST1_ENST00000545762.1_Frame_Shift_Del_p.QH35fs|AC099668.5_ENST00000563780.1_RNA|RNF123_ENST00000432042.1_5'Flank|MST1_ENST00000449682.2_Frame_Shift_Del_p.QH49fs	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CATGTAGCAGGTGCTGTAGCTCTGT	0.61																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(145-150)cfs		macrophage stimulating 1 (hepatocyte growth factor-like)																																				SO:0001631	upstream_gene_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49725275_49725279delGTGCT	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49725275_49725279delGTGCT	Exception_encountered					MST1_ENST00000545762.1_Frame_Shift_Del_p.QH35fs|MST1_ENST00000494828.2_Intron|MST1_ENST00000383728.3_Intron	p.QH49fs	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	507_511	-			35			PAN.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Frame_Shift_Del	DEL	ENST00000327697.6	37	c.146_150delAGCAC	CCDS33758.1																																																																																				0.610	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		12	242						12	242	---	---	---	---
MST1R	4486	broad.mit.edu	37	3	49940112	49940112	+	Frame_Shift_Del	DEL	C	C	-	rs201805638		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:49940112delC	ENST00000296474.3	-	1	958	c.931delG	c.(931-933)gccfs	p.A311fs	CTD-2330K9.2_ENST00000435478.1_RNA|CTD-2330K9.3_ENST00000419183.1_5'Flank|MST1R_ENST00000344206.4_Frame_Shift_Del_p.A311fs	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	311	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CCTTCTGGGGCCCCCCGGCGC	0.667																																						ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(931-933)ccfs		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							60.0	72.0	68.0					3																	49940112		2203	4300	6503	SO:0001589	frameshift_variant	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49940112delC	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.931delG	3.37:g.49940112delC	ENSP00000296474:p.Ala311fs					CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Frame_Shift_Del_p.A311fs	p.A311fs	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	1	958	-			311			Sema.		B5A944|B5A945|B5A946|B5A947	Frame_Shift_Del	DEL	ENST00000296474.3	37	c.931delG	CCDS2807.1																																																																																				0.667	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			7	1062						7	1062	---	---	---	---
RBM15B	29890	broad.mit.edu	37	3	51430822	51430824	+	In_Frame_Del	DEL	CCA	CCA	-	rs147738916	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:51430822_51430824delCCA	ENST00000323686.4	+	1	2092_2094	c.1992_1994delCCA	c.(1990-1995)ggccac>ggc	p.H670del		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	670	His-rich.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGGAACGGGGCCACCACCACCAC	0.635																																						ENST00000323686.4																			0				endometrium(4)|large_intestine(5)|lung(3)	12						c.(1990-1995)ggc>gg		RNA binding motif protein 15B																																				SO:0001651	inframe_deletion	29890				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr3:51430822_51430824delCCA	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"""RNA binding motif (RRM) containing"""	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.1992_1994delCCA	3.37:g.51430831_51430833delCCA	ENSP00000313890:p.His670del						p.GH664del	NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	2092_2094	+			664			His-rich.		A4QPG7|Q6QE19|Q9BV96	In_Frame_Del	DEL	ENST00000323686.4	37	c.1992_1994delCCA	CCDS33764.1																																																																																				0.635	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		7	272						7	272	---	---	---	---
VGLL3	389136	broad.mit.edu	37	3	87027857	87027859	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:87027857_87027859delCTC	ENST00000398399.2	-	2	583_585	c.220_222delGAG	c.(220-222)gagdel	p.E74del	VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCTGGtctttctcctcctcctcc	0.502																																						ENST00000398399.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(220-222)del		vestigial like 3 (Drosophila)				1,38,3879		0,0,1,6,26,1926						5.1	1.0			64	3,85,7944		0,0,3,22,41,3950	no	codingComplex	VGLL3	NM_016206.2		0,0,4,28,67,5876	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0956,0.9954,1.0628				4,123,11823				SO:0001651	inframe_deletion	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87027857_87027859delCTC	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.220_222delGAG	3.37:g.87027866_87027868delCTC	ENSP00000381436:p.Glu74del					VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del	p.E74del	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	2	583_585	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	74						In_Frame_Del	DEL	ENST00000398399.2	37	c.220_222delGAG	CCDS43110.1																																																																																				0.502	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		7	275						7	275	---	---	---	---
KIAA1407	57577	broad.mit.edu	37	3	113737652	113737653	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:113737652_113737653insC	ENST00000295878.3	-	8	1181_1182	c.1035_1036insG	c.(1033-1038)gggaaafs	p.K346fs	KIAA1407_ENST00000545063.1_Frame_Shift_Ins_p.K177fs	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	346										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GTCCCAGCTTTCCCCAGCTTAA	0.505																																						ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(1033-1038)ggaagcfs		KIAA1407																																				SO:0001589	frameshift_variant	57577							g.chr3:113737652_113737653insC	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1036dupG	3.37:g.113737656_113737656dupC	ENSP00000295878:p.Lys346fs					KIAA1407_ENST00000545063.1_Frame_Shift_Ins_p.S177fs	p.S346fs	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN			8	1181_1182	-			346					B4DYL1|Q9P2E0	Frame_Shift_Ins	INS	ENST00000295878.3	37	c.1035_1036insG	CCDS2977.1																																																																																				0.505	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		8	1965						8	1965	---	---	---	---
TMCC1	23023	broad.mit.edu	37	3	129546680	129546682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:129546680_129546682delGCA	ENST00000393238.3	-	3	880_882	c.540_542delTGC	c.(538-543)gctgca>gca	p.180_181AA>A	TMCC1_ENST00000426664.2_In_Frame_Del_p.66_67AA>A	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	180						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TGGTAGACATgcagcagcagcag	0.483																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(538-543)gca>gc		transmembrane and coiled-coil domain family 1																																				SO:0001651	inframe_deletion	23023					integral to membrane		g.chr3:129546680_129546682delGCA	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.540_542delTGC	3.37:g.129546689_129546691delGCA	ENSP00000376930:p.Ala181del					TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del	p.AA180del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			3	880_882	-			180					A8K5Y3|B4DE04|Q68E06|Q8IXM8	In_Frame_Del	DEL	ENST00000393238.3	37	c.540_542delTGC	CCDS33855.1																																																																																				0.483	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		9	298						9	298	---	---	---	---
PCOLCE2	26577	broad.mit.edu	37	3	142548586	142548586	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:142548586delT	ENST00000295992.3	-	6	1119	c.813delA	c.(811-813)aaafs	p.K271fs	PCOLCE2_ENST00000485766.1_Intron	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	271					positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						TTGTAGGCAGTTTTTTTGGCC	0.383																																						ENST00000295992.3																			0				NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(811-813)aafs		procollagen C-endopeptidase enhancer 2							165.0	155.0	158.0					3																	142548586		2203	4300	6503	SO:0001589	frameshift_variant	26577					extracellular region	collagen binding|heparin binding|peptidase activator activity	g.chr3:142548586delT	AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.813delA	3.37:g.142548586delT	ENSP00000295992:p.Lys271fs					PCOLCE2_ENST00000485766.1_Intron	p.K271fs	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN			6	1119	-			271					B2RCH9|D3DNG4|Q9BRH3	Frame_Shift_Del	DEL	ENST00000295992.3	37	c.813delA	CCDS3127.1																																																																																				0.383	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	NM_013363		7	955						7	955	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	150877786	150877786	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:150877786delC	ENST00000474524.1	+	7	1043	c.1005delC	c.(1003-1005)ggcfs	p.G335fs	MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	335						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGCCCTGGCCCCCCCGGCC	0.582																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(1003-1005)ggfs		mediator complex subunit 12-like							83.0	94.0	90.0					3																	150877786		2203	4300	6503	SO:0001589	frameshift_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150877786delC	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1005delC	3.37:g.150877786delC	ENSP00000417235:p.Gly335fs					MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs	p.G335fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		7	1043	+			335					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Frame_Shift_Del	DEL	ENST00000474524.1	37	c.1005delC	CCDS33876.1																																																																																				0.582	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		9	1284						9	1284	---	---	---	---
FETUB	26998	broad.mit.edu	37	3	186362544	186362544	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:186362544delA	ENST00000265029.3	+	4	530	c.429delA	c.(427-429)tcafs	p.S143fs	FETUB_ENST00000539949.1_5'UTR|FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs|FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000488561.1_3'UTR	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	143					binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CAACAGTTTCAAAAAAAAAGA	0.418																																						ENST00000265029.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20						c.(427-429)tcfs		fetuin B							91.0	87.0	89.0					3																	186362544		2203	4300	6503	SO:0001589	frameshift_variant	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186362544delA	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.429delA	3.37:g.186362544delA	ENSP00000265029:p.Ser143fs					RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000539949.1_5'UTR|FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs	p.S143fs	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	4	530	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		143					B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Frame_Shift_Del	DEL	ENST00000265029.3	37	c.429delA	CCDS3279.1																																																																																				0.418	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		13	735						13	735	---	---	---	---
ATP13A3	79572	broad.mit.edu	37	3	194181471	194181473	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:194181471_194181473delGAG	ENST00000439040.1	-	4	930_932	c.139_141delCTC	c.(139-141)ctcdel	p.L47del	ATP13A3_ENST00000256031.4_In_Frame_Del_p.L47del			Q9H7F0	AT133_HUMAN	ATPase type 13A3	47						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GCATCCAATAGAGGAGGAGGAGG	0.463																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(139-141)del		ATPase type 13A3																																				SO:0001651	inframe_deletion	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194181471_194181473delGAG	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.139_141delCTC	3.37:g.194181480_194181482delGAG	ENSP00000416508:p.Leu47del					ATP13A3_ENST00000256031.4_In_Frame_Del_p.L47del	p.L47del			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	4	930_932	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	47					Q8NC11|Q96KS1	In_Frame_Del	DEL	ENST00000439040.1	37	c.139_141delCTC	CCDS43187.1																																																																																				0.463	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		7	810						7	810	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195400639	195400641	+	lincRNA	DEL	GTG	GTG	-	rs145880653|rs147886708		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:195400639_195400641delGTG	ENST00000445430.1	+	0	1284									long intergenic non-protein coding RNA 969																		AGGTGGGCTTGTGGAGGAATGGG	0.552																																						ENST00000445430.1																			0																																																			0							g.chr3:195400639_195400641delGTG	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400639_195400641delGTG														0	1284	+									RNA	DEL	ENST00000445430.1	37																																																																																						0.552	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			8	156						8	156	---	---	---	---
RNF168	165918	broad.mit.edu	37	3	196214338	196214338	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:196214338delT	ENST00000318037.3	-	3	1084	c.490delA	c.(490-492)aggfs	p.R166fs		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	166	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GCTCTTCGCCTTTTTTCTGCC	0.448																																						ENST00000318037.3																			0				NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20						c.(490-492)ggfs		ring finger protein 168, E3 ubiquitin protein ligase							512.0	470.0	484.0					3																	196214338		2203	4300	6503	SO:0001589	frameshift_variant	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196214338delT	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.490delA	3.37:g.196214338delT	ENSP00000320898:p.Arg166fs						p.R166fs	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	3	1084	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		166			Glu-rich.		Q8NA67|Q96NS4	Frame_Shift_Del	DEL	ENST00000318037.3	37	c.490delA	CCDS3317.1																																																																																				0.448	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		8	1913						8	1913	---	---	---	---
C4orf22	255119	broad.mit.edu	37	4	81791254	81791254	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr4:81791254delA	ENST00000358105.3	+	4	490	c.441delA	c.(439-441)ggafs	p.G147fs	C4orf22_ENST00000508675.1_Frame_Shift_Del_p.G164fs	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	147										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						ACTTTACTGGAAAAAAAAGAC	0.373																																						ENST00000358105.3																			0				NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						c.(439-441)ggfs		chromosome 4 open reading frame 22																																				SO:0001589	frameshift_variant	255119							g.chr4:81791254delA	BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.441delA	4.37:g.81791254delA	ENSP00000350818:p.Gly147fs					C4orf22_ENST00000508675.1_Frame_Shift_Del_p.G164fs	p.G147fs	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN			4	490	+			147					E7EQ13|Q6ZQY4|Q8N4G9	Frame_Shift_Del	DEL	ENST00000358105.3	37	c.441delA	CCDS3587.1																																																																																				0.373	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252629.2	NM_152770		7	432						7	432	---	---	---	---
NPNT	255743	broad.mit.edu	37	4	106863682	106863684	+	In_Frame_Del	DEL	CCA	CCA	-	rs368167746		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr4:106863682_106863684delCCA	ENST00000379987.2	+	8	1198_1200	c.982_984delCCA	c.(982-984)ccadel	p.P333del	NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	333	Pro-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AATTCCTACTCCACCACCACCAC	0.522																																						ENST00000379987.2																			0				kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(982-984)del		nephronectin																																				SO:0001651	inframe_deletion	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106863682_106863684delCCA		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.982_984delCCA	4.37:g.106863691_106863693delCCA	ENSP00000369323:p.Pro333del					NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del	p.P333del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	8	1198_1200	+		Hepatocellular(203;0.217)	333			Pro-rich.		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	In_Frame_Del	DEL	ENST00000379987.2	37	c.982_984delCCA	CCDS34046.1																																																																																				0.522	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		13	577						13	577	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24492973	24492973	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:24492973delA	ENST00000264463.4	-	10	2084	c.1577delT	c.(1576-1578)ttcfs	p.F526fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTAAACTGAAAAAAAATTT	0.313										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(1576-1578)tcfs		cadherin 10, type 2 (T2-cadherin)							170.0	183.0	179.0					5																	24492973		2203	4298	6501	SO:0001589	frameshift_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24492973delA	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1577delT	5.37:g.24492973delA	ENSP00000264463:p.Phe526fs	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.F526fs	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	10	2084	-			526			Cadherin 5.		Q9ULB3	Frame_Shift_Del	DEL	ENST00000264463.4	37	c.1577delT	CCDS3892.1																																																																																				0.313	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		7	764						7	764	---	---	---	---
NPR3	4883	broad.mit.edu	37	5	32789822	32789823	+	3'UTR	DEL	GT	GT	-	rs370388563		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:32789822_32789823delGT	ENST00000265074.8	+	0	5340_5341				AC026703.1_ENST00000326958.1_Frame_Shift_Del_p.C106fs	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CTGATTTTGGGTGTGTGTGTGT	0.421																																						ENST00000326958.1																			0											c.(313-318)gggtfs																																						SO:0001624	3_prime_UTR_variant	0							g.chr5:32789822_32789823delGT		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.*3372GT>-	5.37:g.32789832_32789833delGT						NPR3_ENST00000265074.8_3'UTR	p.GC105fs							1	878_879	+								A2RRD1|B4DT84|E7EPG9	Frame_Shift_Del	DEL	ENST00000265074.8	37	c.315_316delGT	CCDS56357.1																																																																																				0.421	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		8	469						8	469	---	---	---	---
AP3S1	1176	broad.mit.edu	37	5	115202418	115202421	+	Frame_Shift_Del	DEL	AAGA	AAGA	-	rs80118146		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:115202418_115202421delAAGA	ENST00000316788.7	+	2	678_681	c.121_124delAAGA	c.(121-126)aagagafs	p.KR41fs		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	41					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TTTGGTATCTAAGAGAGATGAAAA	0.304																																						ENST00000316788.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12						c.(121-126)gafs		adaptor-related protein complex 3, sigma 1 subunit																																				SO:0001589	frameshift_variant	1176				insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity	g.chr5:115202418_115202421delAAGA	D63643	CCDS4123.1	5q22	2010-06-29			ENSG00000177879	ENSG00000177879			2013	protein-coding gene	gene with protein product		601507		CLAPS3		8697810, 9118953	Standard	NM_001284		Approved		uc003krl.3	Q92572	OTTHUMG00000128887	ENST00000316788.7:c.121_124delAAGA	5.37:g.115202418_115202421delAAGA	ENSP00000325369:p.Lys41fs						p.KR41fs	NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)	2	678_681	+		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	41					O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	Frame_Shift_Del	DEL	ENST00000316788.7	37	c.121_124delAAGA	CCDS4123.1																																																																																				0.304	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250847.2			17	240						17	240	---	---	---	---
ZNF608	57507	broad.mit.edu	37	5	124079813	124079815	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:124079813_124079815delCTC	ENST00000306315.5	-	1	1303_1305	c.868_870delGAG	c.(868-870)gagdel	p.E290del	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	290							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCTGTGGCTCTCCTCCTCCTCC	0.522																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(868-870)del		zinc finger protein 608																																				SO:0001651	inframe_deletion	57507					intracellular	zinc ion binding	g.chr5:124079813_124079815delCTC	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.868_870delGAG	5.37:g.124079822_124079824delCTC	ENSP00000307746:p.Glu290del					ZNF608_ENST00000504926.1_Intron	p.E290del	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	1	1303_1305	-		all_cancers(142;0.186)|Prostate(80;0.081)	290					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	In_Frame_Del	DEL	ENST00000306315.5	37	c.868_870delGAG	CCDS34219.1																																																																																				0.522	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		7	1378						7	1378	---	---	---	---
ANKHD1	54882	broad.mit.edu	37	5	139905676	139905676	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:139905676delA	ENST00000360839.2	+	26	4742	c.4588delA	c.(4588-4590)aaafs	p.K1531fs	SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000544120.1_5'Flank|ANKHD1_ENST00000297183.6_Frame_Shift_Del_p.K1531fs|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1531						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGTTTGGGAAAAAAAGGGC	0.423																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(4588-4590)aafs		ankyrin repeat and KH domain containing 1							133.0	145.0	141.0					5																	139905676		2203	4300	6503	SO:0001589	frameshift_variant	54882							g.chr5:139905676delA	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4588delA	5.37:g.139905676delA	ENSP00000354085:p.Lys1531fs					ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs|ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.K1531fs	p.K1531fs	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		26	4712	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Frame_Shift_Del	DEL	ENST00000360839.2	37	c.4588delA	CCDS4225.1																																																																																				0.423	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		7	823						7	823	---	---	---	---
PCDHB4	56131	broad.mit.edu	37	5	140502486	140502487	+	Frame_Shift_Ins	INS	-	-	A	rs372292910		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:140502486_140502487insA	ENST00000194152.1	+	1	906_907	c.906_907insA	c.(907-909)aaafs	p.K303fs	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	303	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K305fs*12(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATACTGTTGAAAAAAAAATT	0.366																																						ENST00000194152.1																			1	Deletion - Frameshift(1)	p.K305fs*12(1)	lung(1)	autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(904-909)ttaaaafs						6,4244		0,6,2119						3.5	0.7			99	16,8224		0,16,4104	no	frameshift	PCDHB4	NM_018938.2		0,22,6223	A1A1,A1R,RR		0.1942,0.1412,0.1761				22,12468				SO:0001589	frameshift_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502486_140502487insA	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.915dupA	5.37:g.140502495_140502495dupA	ENSP00000194152:p.Lys303fs						p.LK302fs	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	906_907	+			302			Cadherin 3.		Q4V761	Frame_Shift_Ins	INS	ENST00000194152.1	37	c.906_907insA	CCDS4246.1																																																																																				0.366	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		15	901						15	901	---	---	---	---
TCERG1	10915	broad.mit.edu	37	5	145886723	145886723	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:145886723delA	ENST00000296702.5	+	19	2901	c.2863delA	c.(2863-2865)aaafs	p.K957fs	TCERG1_ENST00000394421.2_Frame_Shift_Del_p.K936fs	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	957	FF 5.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCACTTACCAAAAAAAAGAG	0.373																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(2863-2865)aafs		transcription elongation regulator 1							84.0	88.0	87.0					5																	145886723		2203	4300	6503	SO:0001589	frameshift_variant	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145886723delA	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.2863delA	5.37:g.145886723delA	ENSP00000296702:p.Lys957fs					TCERG1_ENST00000394421.2_Frame_Shift_Del_p.K936fs	p.K957fs	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		19	2901	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	957			FF 5.		Q2NKN2|Q59EA1	Frame_Shift_Del	DEL	ENST00000296702.5	37	c.2863delA	CCDS4282.1																																																																																				0.373	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		7	533						7	533	---	---	---	---
PPARGC1B	133522	broad.mit.edu	37	5	149216457	149216459	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:149216457_149216459delGGA	ENST00000309241.5	+	8	2471_2473	c.2439_2441delGGA	c.(2437-2442)ggggag>ggg	p.E818del	PPARGC1B_ENST00000403750.1_In_Frame_Del_p.E754del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.E818del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.E779del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	818	Glu-rich.				actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			aggaagaaggggaggaggaggag	0.606																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(2437-2442)ggg>gg		peroxisome proliferator-activated receptor gamma, coactivator 1 beta																																				SO:0001651	inframe_deletion	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149216457_149216459delGGA	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2439_2441delGGA	5.37:g.149216466_149216468delGGA	ENSP00000312649:p.Glu818del					PPARGC1B_ENST00000403750.1_In_Frame_Del_p.GE749del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.GE774del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.GE813del	p.GE813del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2471_2473	+			813			Glu-rich.		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	In_Frame_Del	DEL	ENST00000309241.5	37	c.2439_2441delGGA	CCDS4298.1																																																																																				0.606	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		16	680						16	680	---	---	---	---
HCG17	414778	broad.mit.edu	37	6	30227483	30227483	+	lincRNA	DEL	G	G	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr6:30227483delG	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA					HLA complex group 17 (non-protein coding)																		CGGTGAGTGCGGGGTCGGGAG	0.731																																						ENST00000453558.1																			0																																																			0							g.chr6:30227483delG	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.30227483delG						HLA-L_ENST00000463348.1_RNA								0	126	-									RNA	DEL	ENST00000453558.1	37																																																																																						0.731	HCG17-002	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000256054.1	NR_052012		10	128						10	128	---	---	---	---
MLLT4	4301	broad.mit.edu	37	6	168352796	168352798	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr6:168352796_168352798delGAG	ENST00000447894.2	+	29	4741_4743	c.4741_4743delGAG	c.(4741-4743)gagdel	p.E1584del	MLLT4_ENST00000344191.4_In_Frame_Del_p.E1584del|MLLT4_ENST00000392108.3_In_Frame_Del_p.E1584del|MLLT4_ENST00000351017.4_In_Frame_Del_p.E1591del|MLLT4_ENST00000366806.2_In_Frame_Del_p.E1584del|MLLT4_ENST00000392112.1_In_Frame_Del_p.E1567del|MLLT4_ENST00000400822.3_In_Frame_Del_p.E1583del			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1584	Asp/Glu-rich (acidic).				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		cgaagatgacgaggaggaggagg	0.606			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4741-4743)del		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4																																				SO:0001651	inframe_deletion	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168352796_168352798delGAG	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4741_4743delGAG	6.37:g.168352805_168352807delGAG	ENSP00000404595:p.Glu1584del					MLLT4_ENST00000447894.2_In_Frame_Del_p.E1584del|MLLT4_ENST00000351017.4_In_Frame_Del_p.E1591del|MLLT4_ENST00000392108.3_In_Frame_Del_p.E1584del|MLLT4_ENST00000344191.4_In_Frame_Del_p.E1584del|MLLT4_ENST00000392112.1_In_Frame_Del_p.E1567del|MLLT4_ENST00000400822.3_In_Frame_Del_p.E1583del	p.E1584del			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	30	4883_4885	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1584			Asp/Glu-rich (acidic).		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	In_Frame_Del	DEL	ENST00000447894.2	37	c.4741_4743delGAG																																																																																					0.606	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		7	458						7	458	---	---	---	---
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC	rs3837151|rs3779607	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)cccagc>cccGGCagc	p.389_390PS>PGS	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389			S -> G (in dbSNP:rs3779607). {ECO:0000269|PubMed:15489334}.		germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1165-1170)ccgcgg>ccGGCgcgg		transmembrane protein 184A				1912,2170		535,842,664						-3.6	0.0		dbSNP_132	17	3872,4214		1028,1816,1199	no	coding	TMEM184A	NM_001097620.1		1563,2658,1863	A1A1,A1R,RR		47.8852,46.8398,47.5345				5784,6384				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586662_1586663insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1167_1168insGGC	7.37:g.1586662_1586663insGCC	ENSP00000297477:p.Pro389_Ser390insGly						p.389_390PR>PAR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1483_1484	-		Ovarian(82;0.0253)	389					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1167_1168insGGC	CCDS43537.1																																																																																				0.703	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		13	168						13	168	---	---	---	---
MPP6	51678	broad.mit.edu	37	7	24705666	24705666	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr7:24705666delA	ENST00000222644.5	+	8	1160	c.910delA	c.(910-912)aaafs	p.K308fs	MPP6_ENST00000396475.2_Frame_Shift_Del_p.K308fs|MPP6_ENST00000409761.1_Frame_Shift_Del_p.K196fs			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TATAAGTAGCAAAAAAAAGAA	0.299																																						ENST00000396475.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						c.(910-912)aafs		membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)							88.0	103.0	98.0					7																	24705666		2198	4295	6493	SO:0001589	frameshift_variant	51678				protein complex assembly		protein binding	g.chr7:24705666delA	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.910delA	7.37:g.24705666delA	ENSP00000222644:p.Lys308fs					MPP6_ENST00000409761.1_Frame_Shift_Del_p.K196fs|MPP6_ENST00000222644.4_Frame_Shift_Del_p.K308fs	p.K308fs	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN			9	1209	+			308					B2RAF0	Frame_Shift_Del	DEL	ENST00000222644.5	37	c.910delA	CCDS5388.1																																																																																				0.299	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4			8	567						8	567	---	---	---	---
HOXA1	3198	broad.mit.edu	37	7	27135314	27135316	+	In_Frame_Del	DEL	CGA	CGA	-	rs368428758|rs10951154|rs544314279	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr7:27135314_27135316delCGA	ENST00000343060.4	-	1	277_279	c.216_218delTCG	c.(214-219)catcgc>cac	p.R73del	HOTAIRM1_ENST00000434063.3_RNA|HOXA1_ENST00000355633.5_In_Frame_Del_p.R73del|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000495032.1_RNA|HOTAIRM1_ENST00000429611.3_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	73	Poly-His.		H -> R (frequent polymorphism in individuals of European or African origin; dbSNP:rs10951154). {ECO:0000269|PubMed:11091361, ECO:0000269|PubMed:14702039}.		abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						Ctgggggtggcgatggtggtggt	0.65											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		37	0.00738818	0.0	0.0144	5008	,	,		11776	0.001		0.0209	False		,,,				2504	0.0051					ENST00000343060.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(214-219)cac>ca		homeobox A1																																				SO:0001651	inframe_deletion	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27135314_27135316delCGA		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.216_218delTCG	7.37:g.27135314_27135316delCGA	ENSP00000343246:p.Arg73del		OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	792	HOXA1_ENST00000355633.5_In_Frame_Del_p.HR72del|HOTAIRM1_ENST00000495032.1_RNA	p.HR72del	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN			1	277_279	-			72			Poly-His.		A4D184|B2R8U7|O43363	In_Frame_Del	DEL	ENST00000343060.4	37	c.216_218delTCG	CCDS5401.1																																																																																				0.650	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			7	385						7	385	---	---	---	---
SRPK2	6733	broad.mit.edu	37	7	104844170	104844172	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr7:104844170_104844172delGGT	ENST00000393651.3	-	3	219_221	c.132_134delACC	c.(130-135)ccaccg>ccg	p.44_45PP>P	SRPK2_ENST00000489828.1_In_Frame_Del_p.33_34PP>P|SRPK2_ENST00000357311.3_In_Frame_Del_p.33_34PP>P	NM_182692.1	NP_872634.1			SRSF protein kinase 2									p.P33P(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						CAAAggtggcggtggtggtggtg	0.552																																						ENST00000357311.3																			1	Substitution - coding silent(1)	p.P33P(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						c.(97-102)ccg>cc		SRSF protein kinase 2																																				SO:0001651	inframe_deletion	6733				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr7:104844170_104844172delGGT	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.132_134delACC	7.37:g.104844179_104844181delGGT	ENSP00000377262:p.Pro47del					SRPK2_ENST00000393651.3_In_Frame_Del_p.PP46del|SRPK2_ENST00000489828.1_In_Frame_Del_p.PP35del	p.PP35del	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN			2	270_272	-			35						In_Frame_Del	DEL	ENST00000393651.3	37	c.99_101delACC	CCDS34724.1																																																																																				0.552	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691		7	191						7	191	---	---	---	---
TDRP	157695	broad.mit.edu	37	8	442574	442574	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr8:442574delC	ENST00000324079.6	-	3	623	c.383delG	c.(382-384)ggtfs	p.G129fs	TDRP_ENST00000427263.2_Frame_Shift_Del_p.G129fs|TDRP_ENST00000523656.1_Frame_Shift_Del_p.G129fs|TDRP_ENST00000524229.1_5'Flank			Q86YL5	TDRP_HUMAN	testis development related protein	129					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TGGGTGGCCACCCACGGTGTC	0.552																																						ENST00000324079.6																			0											c.(382-384)gtfs		testis development related protein							42.0	49.0	47.0					8																	442574		1912	4116	6028	SO:0001589	frameshift_variant	157695							g.chr8:442574delC	AY194292	CCDS47759.1, CCDS59090.1	8p23.3	2013-06-03	2013-06-03	2013-06-03	ENSG00000180190	ENSG00000180190			26951	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 42"""	C8orf42		20170638	Standard	NM_175075		Approved	INM01, TDRP1, TDRP2		Q86YL5	OTTHUMG00000163593	ENST00000324079.6:c.383delG	8.37:g.442574delC	ENSP00000315111:p.Gly129fs					TDRP_ENST00000427263.2_Frame_Shift_Del_p.G129fs|TDRP_ENST00000523656.1_Frame_Shift_Del_p.G129fs	p.G129fs							3	623	-								B6VF03|B9EG53	Frame_Shift_Del	DEL	ENST00000324079.6	37	c.383delG	CCDS47759.1																																																																																				0.552	TDRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374442.1	NM_175075		63	107						63	107	---	---	---	---
FAM66B	100128890	broad.mit.edu	37	8	7191540	7191541	+	lincRNA	DEL	CA	CA	-	rs376658666		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr8:7191540_7191541delCA	ENST00000606573.1	-	0	703									family with sequence similarity 66, member B																		GGGGTGcacgcacacacacaca	0.53																																						ENST00000606573.1																			0																																																			0							g.chr8:7191540_7191541delCA			8p23.1	2013-07-05			ENSG00000215374	ENSG00000215374		"""Long non-coding RNAs"""	28890	non-coding RNA	RNA, long non-coding							Standard	NR_027423		Approved				OTTHUMG00000165383		8.37:g.7191550_7191551delCA														0	703	-									RNA	DEL	ENST00000606573.1	37																																																																																						0.530	FAM66B-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470344.1	NR_027423		16	224						16	224	---	---	---	---
TERF1	7013	broad.mit.edu	37	8	73921284	73921286	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr8:73921284_73921286delGAG	ENST00000276603.5	+	1	186_188	c.163_165delGAG	c.(163-165)gagdel	p.E62del	TERF1_ENST00000276602.6_In_Frame_Del_p.E62del	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	62	Asp/Glu-rich (acidic).|Poly-Glu.|TRFH dimerization.				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			GGGGGCCCCCgaggaggaggagg	0.65																																						ENST00000276602.6																			0				central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9						c.(163-165)del		telomeric repeat binding factor (NIMA-interacting) 1																																				SO:0001651	inframe_deletion	7013				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding	g.chr8:73921284_73921286delGAG	U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.163_165delGAG	8.37:g.73921293_73921295delGAG	ENSP00000276603:p.Glu62del					TERF1_ENST00000276603.5_In_Frame_Del_p.E62del	p.E62del	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	Epithelial(68;0.0984)		1	186_188	+	Breast(64;0.218)		62			Asp/Glu-rich (acidic).|Poly-Glu.|TRFH dimerization.		A7XP29|Q15553|Q8NHT6|Q93029	In_Frame_Del	DEL	ENST00000276603.5	37	c.163_165delGAG	CCDS6211.1																																																																																				0.650	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379093.1	NM_017489		7	151						7	151	---	---	---	---
ZNF704	619279	broad.mit.edu	37	8	81733713	81733713	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr8:81733713delT	ENST00000327835.3	-	2	348	c.117delA	c.(115-117)aaafs	p.K39fs		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	39							metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TCCGGCTGGCTTTTTTGGTGT	0.428																																						ENST00000327835.3																			0				lung(9)|skin(1)|upper_aerodigestive_tract(1)	11						c.(115-117)aafs		zinc finger protein 704							329.0	308.0	315.0					8																	81733713		2203	4300	6503	SO:0001589	frameshift_variant	619279					intracellular	zinc ion binding	g.chr8:81733713delT	AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.117delA	8.37:g.81733713delT	ENSP00000331462:p.Lys39fs						p.K39fs	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)		2	348	-	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		39					B2RNE6|B9EGW6	Frame_Shift_Del	DEL	ENST00000327835.3	37	c.117delA	CCDS34913.1																																																																																				0.428	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2	NM_001033723		9	2369						9	2369	---	---	---	---
PABPC1	26986	broad.mit.edu	37	8	101724994	101724995	+	Frame_Shift_Ins	INS	-	-	A	rs140822921		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr8:101724994_101724995insA	ENST00000318607.5	-	6	1889_1890	c.761_762insT	c.(760-762)aagfs	p.K254fs	PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.K222fs|PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.K209fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	254	CSDE1-binding.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CATTGAGCTCCTTTCCGTTCAT	0.371																																						ENST00000318607.5																			0				breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40						c.(760-762)agafs		poly(A) binding protein, cytoplasmic 1																																				SO:0001589	frameshift_variant	26986				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity	g.chr8:101724994_101724995insA	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.761_762insT	8.37:g.101724994_101724995insA	ENSP00000313007:p.Lys254fs					PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.R209fs|PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.R222fs|PABPC1_ENST00000519596.1_5'UTR	p.R254fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)		6	1889_1890	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		254			CSDE1-binding.|RRM 3.		Q15097|Q93004	Frame_Shift_Ins	INS	ENST00000318607.5	37	c.761_762insT	CCDS6289.1																																																																																				0.371	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		13	455						13	455	---	---	---	---
MYC	4609	broad.mit.edu	37	8	128750605	128750607	+	In_Frame_Del	DEL	CAG	CAG	-	rs61752959	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr8:128750605_128750607delCAG	ENST00000259523.6	+	2	1302_1304	c.97_99delCAG	c.(97-99)cagdel	p.Q37del	MYC_ENST00000377970.2_In_Frame_Del_p.Q52del|MYC_ENST00000524013.1_In_Frame_Del_p.Q51del			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	37	Poly-Gln.				branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.Q33H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	GAACTTCTACCAGCAGCAGCAGC	0.611		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377970.2		3		Dom	yes		8	8q24.12-q24.13	4609	"""A, T"""	v-myc myelocytomatosis viral oncogene homolog (avian)			"""L, E"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""		"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""		1	Substitution - Missense(1)	p.Q33H(1)	skin(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16						c.(142-144)del		v-myc avian myelocytomatosis viral oncogene homolog																																				SO:0001651	inframe_deletion	4609				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:128750605_128750607delCAG		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"""Basic helix-loop-helix proteins"""	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.97_99delCAG	8.37:g.128750614_128750616delCAG	ENSP00000259523:p.Gln37del		OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1567	MYC_ENST00000259523.6_In_Frame_Del_p.Q37del|MYC_ENST00000524013.1_In_Frame_Del_p.Q51del	p.Q52del	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	2	652_654	+	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	37					A8WFE7|P01107|Q14026	In_Frame_Del	DEL	ENST00000259523.6	37	c.142_144delCAG																																																																																					0.611	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000250278.1			8	741						8	741	---	---	---	---
AGO2	27161	broad.mit.edu	37	8	141554345	141554345	+	Frame_Shift_Del	DEL	G	G	-	rs148575703	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr8:141554345delG	ENST00000220592.5	-	14	1918	c.1806delC	c.(1804-1806)cccfs	p.P602fs	AGO2_ENST00000519980.1_Frame_Shift_Del_p.P602fs	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	602	Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										CATCCCCGGCGGGGGGGTGAG	0.647																																						ENST00000220592.5																			0											c.(1804-1806)ccfs		argonaute RISC catalytic component 2							92.0	101.0	98.0					8																	141554345		2203	4300	6503	SO:0001589	frameshift_variant	27161							g.chr8:141554345delG	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1806delC	8.37:g.141554345delG	ENSP00000220592:p.Pro602fs					AGO2_ENST00000519980.1_Frame_Shift_Del_p.P602fs	p.P602fs	NM_012154.3	NP_036286.2					14	1918	-								Q8TCZ5|Q8WV58|Q96ID1	Frame_Shift_Del	DEL	ENST00000220592.5	37	c.1806delC	CCDS6380.1																																																																																				0.647	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			8	1505						8	1505	---	---	---	---
KIF24	347240	broad.mit.edu	37	9	34257623	34257623	+	Frame_Shift_Del	DEL	T	T	-	rs570788521	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr9:34257623delT	ENST00000402558.2	-	10	2006	c.1982delA	c.(1981-1983)aagfs	p.K661fs	KIF24_ENST00000345050.2_Frame_Shift_Del_p.K527fs|KIF24_ENST00000379174.3_Frame_Shift_Del_p.K527fs|KIF24_ENST00000379166.2_Frame_Shift_Del_p.K661fs			Q5T7B8	KIF24_HUMAN	kinesin family member 24	661					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K143fs*34(1)|p.K661fs*34(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CTCTTCTGGCTTTTTTTTGGC	0.527													TTTTTTTT|TTTTTTTT|TTTTTTT|deletion	3	0.000599042	0.0	0.0043	5008	,	,		23710	0.0		0.0	False		,,,				2504	0.0					ENST00000379166.2																			2	Deletion - Frameshift(2)	p.K143fs*34(1)|p.K661fs*34(1)	large_intestine(2)	breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(1981-1983)agfs		kinesin family member 24							65.0	65.0	65.0					9																	34257623		2203	4300	6503	SO:0001589	frameshift_variant	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34257623delT	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.1982delA	9.37:g.34257623delT	ENSP00000384433:p.Lys661fs					KIF24_ENST00000345050.2_Frame_Shift_Del_p.K527fs|KIF24_ENST00000402558.2_Frame_Shift_Del_p.K661fs|KIF24_ENST00000379174.3_Frame_Shift_Del_p.K527fs	p.K661fs	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		11	2101	-			661					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Frame_Shift_Del	DEL	ENST00000402558.2	37	c.1982delA	CCDS6551.2																																																																																				0.527	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			7	323						7	323	---	---	---	---
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs371516340|rs565664344|rs71369530	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)gccgccdel	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				anatomical structure morphogenesis (GO:0009653)|cell migration (GO:0016477)|embryonic organ morphogenesis (GO:0048562)|hair follicle morphogenesis (GO:0031069)|hard palate development (GO:0060022)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pharynx development (GO:0060465)|positive regulation of transcription, DNA-templated (GO:0045893)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767																																						ENST00000375123.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(505-510)del		forkhead box E1 (thyroid transcription factor 2)																																				SO:0001651	inframe_deletion	2304				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:100616701_100616706delGCCGCC	U89995	CCDS35078.1	9q22	2008-09-05			ENSG00000178919	ENSG00000178919		"""Forkhead boxes"""	3806	protein-coding gene	gene with protein product		602617	"""forkhead box E2"""	FKHL15, TITF2, FOXE2		9169137, 9697705	Standard	NM_004473		Approved	TTF-2, HFKH4	uc004axu.3	O00358	OTTHUMG00000020333	ENST00000375123.3:c.505_510delGCCGCC	9.37:g.100616707_100616712delGCCGCC	ENSP00000364265:p.Ala177_Ala178del						p.AA177del	NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN			1	1166_1171	+		Acute lymphoblastic leukemia(62;0.158)	177			Ala-rich.|Poly-Ala.		O75765|Q5T109|Q99526	In_Frame_Del	DEL	ENST00000375123.3	37	c.505_510delGCCGCC	CCDS35078.1																																																																																				0.767	FOXE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053341.1			21	46						21	46	---	---	---	---
REXO4	57109	broad.mit.edu	37	9	136282859	136282859	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr9:136282859delT	ENST00000371942.3	-	1	305	c.106delA	c.(106-108)aggfs	p.R36fs	REXO4_ENST00000371935.2_Frame_Shift_Del_p.R36fs|REXO4_ENST00000478037.1_5'UTR|ADAMTS13_ENST00000485925.1_Intron	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	36					regulation of transcription, DNA-templated (GO:0006355)	nucleolus (GO:0005730)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		TTCCAAAACCTTTTTTTCTTC	0.572																																						ENST00000371942.3																			0				kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(106-108)ggfs		REX4, RNA exonuclease 4 homolog (S. cerevisiae)							90.0	98.0	95.0					9																	136282859		2203	4300	6503	SO:0001589	frameshift_variant	57109					nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity	g.chr9:136282859delT	AF273304	CCDS6969.1, CCDS65179.1	9q34	2008-02-05	2005-08-22	2005-08-22	ENSG00000148300	ENSG00000148300			12820	protein-coding gene	gene with protein product		602930	"""Xenopus prevents mitotic catatrophe 2 homolog"", ""XPMC2 prevents mitotic catastrophe 2 homolog (Xenopus laevis)"""	XPMC2H		9325058	Standard	NM_020385		Approved		uc004cdm.3	Q9GZR2	OTTHUMG00000020870	ENST00000371942.3:c.106delA	9.37:g.136282859delT	ENSP00000361010:p.Arg36fs					ADAMTS13_ENST00000485925.1_Intron|REXO4_ENST00000478037.1_5'UTR|REXO4_ENST00000371935.2_Frame_Shift_Del_p.R36fs	p.R36fs	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)	1	305	-			36					B2RAT2|Q5T8S4|Q5T8S5|Q5T8S6|Q9GZW3	Frame_Shift_Del	DEL	ENST00000371942.3	37	c.106delA	CCDS6969.1																																																																																				0.572	REXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054899.1			7	972						7	972	---	---	---	---
FAM171A1	221061	broad.mit.edu	37	10	15254987	15254989	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr10:15254987_15254989delTCA	ENST00000378116.4	-	8	2604_2606	c.2598_2600delTGA	c.(2596-2601)gatgac>gac	p.866_867DD>D	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	866						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TTCTCCTTGGTCATCATCATCAT	0.571																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(2596-2601)gac>ga		family with sequence similarity 171, member A1																																				SO:0001651	inframe_deletion	221061					integral to membrane		g.chr10:15254987_15254989delTCA	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2598_2600delTGA	10.37:g.15254996_15254998delTCA	ENSP00000367356:p.Asp867del						p.DD866del	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			8	2604_2606	-			866					D3DRT9|Q32M49|Q8N4I0	In_Frame_Del	DEL	ENST00000378116.4	37	c.2598_2600delTGA	CCDS31154.1																																																																																				0.571	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		7	1458						7	1458	---	---	---	---
MYO3A	53904	broad.mit.edu	37	10	26462760	26462760	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr10:26462760delA	ENST00000265944.5	+	30	3733	c.3567delA	c.(3565-3567)ccafs	p.P1189fs	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1189					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.M1192fs*1(2)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATCAGACTCCAAAAAAAATGA	0.403																																						ENST00000265944.5																			2	Deletion - Frameshift(2)	p.M1192fs*1(2)	ovary(1)|large_intestine(1)	NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(3565-3567)ccfs		myosin IIIA							67.0	66.0	67.0					10																	26462760		2203	4300	6503	SO:0001589	frameshift_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26462760delA	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3567delA	10.37:g.26462760delA	ENSP00000265944:p.Pro1189fs					MYO3A_ENST00000543632.1_Intron	p.P1189fs	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			30	3733	+			1189					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Frame_Shift_Del	DEL	ENST00000265944.5	37	c.3567delA	CCDS7148.1																																																																																				0.403	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		7	343						7	343	---	---	---	---
TNKS2	80351	broad.mit.edu	37	10	93601945	93601946	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr10:93601945_93601946insA	ENST00000371627.4	+	16	2235_2236	c.1856_1857insA	c.(1855-1860)acaaaafs	p.TK619fs		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	619					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.N622fs*29(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GCAGACCCTACAAAAAAAAACA	0.391																																						ENST00000371627.4																			1	Deletion - Frameshift(1)	p.N622fs*29(1)	large_intestine(1)	biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48						c.(1855-1857)aaafs		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2																																				SO:0001589	frameshift_variant	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93601945_93601946insA	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1865dupA	10.37:g.93601954_93601954dupA	ENSP00000360689:p.Thr619fs						p.K619fs	NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN			16	2235_2236	+		Colorectal(252;0.162)	619					B2RBD3|Q9H8F2|Q9HAS4	Frame_Shift_Ins	INS	ENST00000371627.4	37	c.1856_1857insA	CCDS7417.1																																																																																				0.391	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		10	244						10	244	---	---	---	---
PAX2	5076	broad.mit.edu	37	10	102587323	102587324	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr10:102587323_102587324insC	ENST00000428433.1	+	11	1751_1752	c.1201_1202insC	c.(1201-1203)gccfs	p.A401fs	PAX2_ENST00000556085.1_Frame_Shift_Ins_p.A377fs|PAX2_ENST00000370296.2_3'UTR|PAX2_ENST00000355243.3_Frame_Shift_Ins_p.A378fs|PAX2_ENST00000361791.3_3'UTR	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	401					aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|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 (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TTATAGTGCCGCCCCCCGGGGC	0.569																																						ENST00000428433.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(1201-1203)cccfs		paired box 2																																				SO:0001589	frameshift_variant	5076				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	g.chr10:102587323_102587324insC		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.1207dupC	10.37:g.102587329_102587329dupC	ENSP00000396259:p.Ala401fs					PAX2_ENST00000556085.1_Frame_Shift_Ins_p.P377fs|PAX2_ENST00000361791.3_3'UTR|PAX2_ENST00000355243.3_Frame_Shift_Ins_p.P378fs|PAX2_ENST00000370296.2_3'UTR	p.P401fs	NM_003987.3|NM_003990.3	NP_003978.2|NP_003981.2	Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	11	1751_1752	+		Colorectal(252;0.234)	401					Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Frame_Shift_Ins	INS	ENST00000428433.1	37	c.1201_1202insC	CCDS53569.1																																																																																				0.569	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				8	715						8	715	---	---	---	---
NUP98	4928	broad.mit.edu	37	11	3720389	3720389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr11:3720389delT	ENST00000324932.7	-	25	4352	c.3932delA	c.(3931-3933)aacfs	p.N1311fs	NUP98_ENST00000488828.1_5'Flank|NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1328					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CACAGGGCTGTTTTTTTGGGT	0.512			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(3931-3933)acfs		nucleoporin 98kDa							176.0	183.0	180.0					11																	3720389		2201	4298	6499	SO:0001589	frameshift_variant	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3720389delT	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.3932delA	11.37:g.3720389delT	ENSP00000316032:p.Asn1311fs					NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs	p.N1311fs	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	25	4352	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1328					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Frame_Shift_Del	DEL	ENST00000324932.7	37	c.3932delA	CCDS7746.1																																																																																				0.512	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		8	1401						8	1401	---	---	---	---
APBB1	322	broad.mit.edu	37	11	6432090	6432092	+	In_Frame_Del	DEL	TCC	TCC	-	rs370763825|rs145320037		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr11:6432090_6432092delTCC	ENST00000609360.1	-	2	585_587	c.486_488delGGA	c.(484-489)gaggat>gat	p.E162del	APBB1_ENST00000389906.2_In_Frame_Del_p.E162del|APBB1_ENST00000299402.6_In_Frame_Del_p.E162del|APBB1_ENST00000311051.3_In_Frame_Del_p.E162del	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	162	Glu-rich.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)	p.E162D(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		atcatcatcatcctcctcctcct	0.635																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			1	Substitution - Missense(1)	p.E162D(1)	prostate(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(484-489)gat>ga		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)																																				SO:0001651	inframe_deletion	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6432090_6432092delTCC	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.486_488delGGA	11.37:g.6432099_6432101delTCC	ENSP00000477213:p.Glu162del					APBB1_ENST00000533407.1_Intron|APBB1_ENST00000311051.3_In_Frame_Del_p.ED162del|APBB1_ENST00000299402.6_In_Frame_Del_p.ED162del	p.ED162del	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	2	585_587	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	162			Glu-rich.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	In_Frame_Del	DEL	ENST00000609360.1	37	c.486_488delGGA																																																																																					0.635	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		11	377						11	377	---	---	---	---
MICALCL	84953	broad.mit.edu	37	11	12316345	12316347	+	In_Frame_Del	DEL	CTC	CTC	-	rs3841216|rs573537447|rs371647810		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr11:12316345_12316347delCTC	ENST00000256186.2	+	3	1658_1660	c.1367_1369delCTC	c.(1366-1371)gctcct>gct	p.P470del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	470	Poly-Pro.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CGCCAGGCAGctcctcctcctcc	0.606																																						ENST00000256186.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1366-1371)gct>g		MICAL C-terminal like																																				SO:0001651	inframe_deletion	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12316345_12316347delCTC	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1367_1369delCTC	11.37:g.12316354_12316356delCTC	ENSP00000256186:p.Pro470del						p.AP456del	NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	3	1658_1660	+			456					Q7RTP7|Q96JU6	In_Frame_Del	DEL	ENST00000256186.2	37	c.1367_1369delCTC	CCDS41620.1																																																																																				0.606	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		7	230						7	230	---	---	---	---
NAV2	89797	broad.mit.edu	37	11	19901475	19901477	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr11:19901475_19901477delAGC	ENST00000396087.3	+	5	671_673	c.572_574delAGC	c.(571-576)aagcag>aag	p.Q196del	NAV2_ENST00000396085.1_In_Frame_Del_p.Q196del|NAV2_ENST00000360655.4_In_Frame_Del_p.Q132del|NAV2_ENST00000527559.2_In_Frame_Del_p.Q125del|NAV2_ENST00000540292.1_In_Frame_Del_p.Q127del|NAV2_ENST00000349880.4_In_Frame_Del_p.Q196del|NAV2_ENST00000534229.1_3'UTR	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	196	Gln-rich.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCCCGATACAagcagcagcagca	0.611																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(571-576)aag>a		neuron navigator 2			,,	52,4210		4,44,2083					,,	5.9	1.0			68	58,8184		2,54,4065	no	coding,coding,coding	NAV2	NM_182964.5,NM_145117.4,NM_001111018.1	,,	6,98,6148	A1A1,A1R,RR		0.7037,1.2201,0.8797	,,	,,		110,12394				SO:0001651	inframe_deletion	89797					nucleus	ATP binding|helicase activity	g.chr11:19901475_19901477delAGC	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.572_574delAGC	11.37:g.19901484_19901486delAGC	ENSP00000379396:p.Gln196del					NAV2_ENST00000349880.4_In_Frame_Del_p.KQ191del|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000396087.3_In_Frame_Del_p.KQ191del|NAV2_ENST00000360655.4_In_Frame_Del_p.KQ127del|NAV2_ENST00000540292.1_In_Frame_Del_p.KQ122del|NAV2_ENST00000527559.2_In_Frame_Del_p.KQ120del	p.KQ191del	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			5	933_935	+			191			CH.		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	In_Frame_Del	DEL	ENST00000396087.3	37	c.572_574delAGC	CCDS58126.1																																																																																				0.611	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		10	702						10	702	---	---	---	---
ARL14EP	120534	broad.mit.edu	37	11	30352754	30352754	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr11:30352754delA	ENST00000282032.3	+	2	474	c.259delA	c.(259-261)aaafs	p.K88fs		NM_152316.1	NP_689529.1	Q8N8R7	AL14E_HUMAN	ADP-ribosylation factor-like 14 effector protein	88				K -> KK (in Ref. 2; CAI46092). {ECO:0000305}.		cytoplasm (GO:0005737)											GAAATTAGCCAAAAAAAATTT	0.338																																						ENST00000282032.3																			0											c.(259-261)aafs		ADP-ribosylation factor-like 14 effector protein							93.0	93.0	93.0					11																	30352754		2202	4299	6501	SO:0001589	frameshift_variant	120534							g.chr11:30352754delA	AK096287	CCDS7869.1	11p14.1	2014-09-17	2012-07-09	2012-07-09	ENSG00000152219	ENSG00000152219			26798	protein-coding gene	gene with protein product		612295	"""chromosome 11 open reading frame 46"""	C11orf46		21458045	Standard	XM_005252792		Approved	FLJ38968, ARF7EP	uc001mso.1	Q8N8R7	OTTHUMG00000166154	ENST00000282032.3:c.259delA	11.37:g.30352754delA	ENSP00000282032:p.Lys88fs						p.K88fs	NM_152316.1	NP_689529.1					2	474	+								Q5HYH9	Frame_Shift_Del	DEL	ENST00000282032.3	37	c.259delA	CCDS7869.1																																																																																				0.338	ARL14EP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388129.1	NM_152316		7	535						7	535	---	---	---	---
CKAP5	9793	broad.mit.edu	37	11	46789159	46789159	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr11:46789159delT	ENST00000529230.1	-	27	3423	c.3377delA	c.(3376-3378)aagfs	p.K1126fs	CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K1126fs|CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K1126fs|CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K1126fs			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1126					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						AGCTTTGGCCTTTTTTGGATC	0.323																																					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.(3376-3378)agfs		cytoskeleton associated protein 5							122.0	128.0	126.0					11																	46789159		2201	4299	6500	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.chr11:46789159delT		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.3377delA	11.37:g.46789159delT	ENSP00000432768:p.Lys1126fs					CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K1126fs|CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K1126fs|CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K1126fs	p.K1126fs			Q14008	CKAP5_HUMAN			27	3423	-			1126					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Frame_Shift_Del	DEL	ENST00000529230.1	37	c.3377delA	CCDS31477.1																																																																																				0.323	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		9	666						9	666	---	---	---	---
FADS2	9415	broad.mit.edu	37	11	61607885	61607887	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr11:61607885_61607887delTCC	ENST00000278840.4	+	3	1028_1030	c.398_400delTCC	c.(397-402)ttcctc>ttc	p.L137del	FADS2_ENST00000522056.1_In_Frame_Del_p.L106del|FADS2_ENST00000521849.1_In_Frame_Del_p.L137del|FADS2_ENST00000257261.6_In_Frame_Del_p.L115del	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	137				LLLL -> RTRG (in Ref. 9; CAB43280). {ECO:0000305}.	alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CACGTGTTCTTCCTCCTCCTCCT	0.537																																						ENST00000278840.4																			0				breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						c.(397-402)ttc>t		fatty acid desaturase 2	Alpha-Linolenic Acid(DB00132)																																			SO:0001651	inframe_deletion	9415				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding	g.chr11:61607885_61607887delTCC	AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"""Fatty acid desaturases"""	3575	protein-coding gene	gene with protein product	"""delta-6-desaturase"""	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.398_400delTCC	11.37:g.61607894_61607896delTCC	ENSP00000278840:p.Leu137del					FADS2_ENST00000257261.6_In_Frame_Del_p.FL111del|FADS2_ENST00000521849.1_In_Frame_Del_p.FL133del|FADS2_ENST00000522056.1_In_Frame_Del_p.FL102del	p.FL133del	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN			3	1028_1030	+			133					A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	In_Frame_Del	DEL	ENST00000278840.4	37	c.398_400delTCC	CCDS8012.1																																																																																				0.537	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375586.2	NM_004265		9	1016						9	1016	---	---	---	---
KDM2A	22992	broad.mit.edu	37	11	67018079	67018081	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr11:67018079_67018081delGAG	ENST00000529006.2	+	17	3024_3026	c.2578_2580delGAG	c.(2578-2580)gagdel	p.E866del	KDM2A_ENST00000308783.5_In_Frame_Del_p.E324del|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000530342.1_In_Frame_Del_p.E427del	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	866					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						ggaggaggaagaggaggaggagg	0.655																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(2578-2580)del		lysine (K)-specific demethylase 2A																																				SO:0001651	inframe_deletion	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:67018079_67018081delGAG	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.2578_2580delGAG	11.37:g.67018088_67018090delGAG	ENSP00000432786:p.Glu866del					KDM2A_ENST00000308783.5_In_Frame_Del_p.E324del|KDM2A_ENST00000530342.1_In_Frame_Del_p.E427del|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Intron	p.E866del	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			17	3024_3026	+			866					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	In_Frame_Del	DEL	ENST00000529006.2	37	c.2578_2580delGAG	CCDS44657.1																																																																																				0.655	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		7	218						7	218	---	---	---	---
KRTAP5-7	440050	broad.mit.edu	37	11	71238416	71238436	+	In_Frame_Del	DEL	TGTGGCTCTGGCTGTGGGGGA	TGTGGCTCTGGCTGTGGGGGA	-	rs554986629|rs201675734|rs572895813	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr11:71238416_71238436delTGTGGCTCTGGCTGTGGGGGA	ENST00000398536.4	+	1	104_124	c.70_90delTGTGGCTCTGGCTGTGGGGGA	c.(70-90)tgtggctctggctgtgggggadel	p.CGSGCGG24del		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	24						keratin filament (GO:0045095)		p.G30G(1)		breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						CTGTGGGGGCTGTGGCTCTGGCTGTGGGGGATGTGGCTCCA	0.665																																						ENST00000398536.4																			1	Substitution - coding silent(1)	p.G30G(1)	kidney(1)	breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						c.(70-90)del		keratin associated protein 5-7																																				SO:0001651	inframe_deletion	440050					keratin filament		g.chr11:71238416_71238436delTGTGGCTCTGGCTGTGGGGGA	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"""Keratin associated proteins"""	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.70_90delTGTGGCTCTGGCTGTGGGGGA	11.37:g.71238416_71238436delTGTGGCTCTGGCTGTGGGGGA	ENSP00000417330:p.Cys24_Gly30del						p.CGSGCGG24del	NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN			1	104_124	+			24					B2RNM3|Q701N5	In_Frame_Del	DEL	ENST00000398536.4	37	c.70_90delTGTGGCTCTGGCTGTGGGGGA	CCDS41682.1																																																																																				0.665	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			8	1506						8	1506	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89403730	89403731	+	RNA	INS	-	-	AAAC	rs377075488|rs371511332	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr11:89403730_89403731insAAAC	ENST00000532352.1	+	0	994							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						aaagtgaaTCAaaacaaacaaa	0.347														311	0.0621006	0.1551	0.0187	5008	,	,		18533	0.0317		0.0099	False		,,,				2504	0.0521					ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89403730_89403731insAAAC	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89403735_89403738dupAAAC										Q9HBA9	FOH1B_HUMAN			0	994	+									RNA	INS	ENST00000532352.1	37																																																																																						0.347	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		14	89						14	89	---	---	---	---
OR8D4	338662	broad.mit.edu	37	11	123777441	123777442	+	Frame_Shift_Ins	INS	-	-	T	rs79561639|rs74740497|rs201238608	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr11:123777441_123777442insT	ENST00000321355.2	+	1	333_334	c.303_304insT	c.(304-306)tttfs	p.F102fs		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGATTCAGCTGTTTTTTTTCTG	0.436													TTTTTTTT|TTTTTTTT|TTTTTTTTT|insertion	116	0.0231629	0.084	0.0058	5008	,	,		21496	0.0		0.001	False		,,,				2504	0.0					ENST00000321355.2																			0				large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(301-306)ctttttfs		olfactory receptor, family 8, subfamily D, member 4				222,0,4042		5,0,212,0,0,1915						-6.5	0.6		dbSNP_131	230	2,2,8250		0,0,2,0,2,4123	no	codingComplex	OR8D4	NM_001005197.1		5,0,214,0,2,6038	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0485,5.2064,1.8054				224,2,12292				SO:0001589	frameshift_variant	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777441_123777442insT	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.311dupT	11.37:g.123777449_123777449dupT	ENSP00000325381:p.Phe102fs						p.LF101fs	NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	333_334	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	101					Q6IFE9	Frame_Shift_Ins	INS	ENST00000321355.2	37	c.303_304insT	CCDS31698.1																																																																																				0.436	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		7	944						7	944	---	---	---	---
KDM5A	5927	broad.mit.edu	37	12	416952	416953	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr12:416952_416953insT	ENST00000399788.2	-	23	3959_3960	c.3597_3598insA	c.(3595-3600)aaaggafs	p.G1200fs	KDM5A_ENST00000382815.4_Frame_Shift_Ins_p.G1200fs	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1200					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CAGCTGGATCCTTTTTTTTGGG	0.475			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(3595-3600)aagatcfs		lysine (K)-specific demethylase 5A																																				SO:0001589	frameshift_variant	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:416952_416953insT		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3598dupA	12.37:g.416960_416960dupT	ENSP00000382688:p.Gly1200fs					KDM5A_ENST00000382815.4_Frame_Shift_Ins_p.I1200fs	p.I1200fs	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			23	3959_3960	-			1200					A8MV76|Q4LE72|Q86XZ1	Frame_Shift_Ins	INS	ENST00000399788.2	37	c.3597_3598insA	CCDS41736.1																																																																																				0.475	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		11	711						11	711	---	---	---	---
LINC00937	389634	broad.mit.edu	37	12	8519552	8519554	+	lincRNA	DEL	CCA	CCA	-	rs370335955|rs36094839|rs571647407		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr12:8519552_8519554delCCA	ENST00000544461.1	-	0	1081				RP11-113C12.4_ENST00000537764.1_RNA|AC092865.1_ENST00000408177.1_RNA					long intergenic non-protein coding RNA 937																		TACCAGCTTCccaccaccaccac	0.473														457	0.091254	0.1309	0.085	5008	,	,		17620	0.002		0.172	False		,,,				2504	0.0511					ENST00000544461.1																			0																																																			0							g.chr12:8519552_8519554delCCA	BC073935		12p13.31	2013-05-30			ENSG00000226091	ENSG00000226091		"""Long non-coding RNAs"""	48629	non-coding RNA	RNA, long non-coding							Standard	NR_024420		Approved				OTTHUMG00000168663		12.37:g.8519561_8519563delCCA						RP11-113C12.4_ENST00000537764.1_RNA								0	1081	-									RNA	DEL	ENST00000544461.1	37																																																																																						0.473	LINC00937-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000400511.1			9	598						9	598	---	---	---	---
TAS2R42	353164	broad.mit.edu	37	12	11338799	11338799	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr12:11338799delA	ENST00000334266.1	-	1	744	c.745delT	c.(745-747)tccfs	p.S249fs		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	249					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			ACTTGTAAGGAAAAAAAATGA	0.423																																					Melanoma(15;352 722 10077 19546 48810)	ENST00000334266.1																			0				breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(745-747)ccfs		taste receptor, type 2, member 42							78.0	76.0	77.0					12																	11338799		2203	4300	6503	SO:0001589	frameshift_variant	353164				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11338799delA	AX097739, AB199241	CCDS31747.1	12p13	2012-08-22			ENSG00000186136	ENSG00000186136		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18888	protein-coding gene	gene with protein product		613966				12679530	Standard	NM_181429		Approved	T2R24, T2R55, hT2R55, TAS2R55	uc001qzr.1	Q7RTR8	OTTHUMG00000168567	ENST00000334266.1:c.745delT	12.37:g.11338799delA	ENSP00000334050:p.Ser249fs						p.S249fs	NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0455)		1	744	-			249					A2RRP4|Q645X0	Frame_Shift_Del	DEL	ENST00000334266.1	37	c.745delT	CCDS31747.1																																																																																				0.423	TAS2R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400243.1	NM_181429		7	448						7	448	---	---	---	---
SLCO1B3	28234	broad.mit.edu	37	12	21028267	21028267	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr12:21028267delT	ENST00000381545.3	+	9	1045	c.826delT	c.(826-828)tttfs	p.F278fs	SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	278					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TTCCATACCATTTTTTTTCTT	0.363																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(826-828)ttfs		solute carrier organic anion transporter family, member 1B3							138.0	135.0	136.0					12																	21028267		2203	4300	6503	SO:0001589	frameshift_variant	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21028267delT		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.826delT	12.37:g.21028267delT	ENSP00000370956:p.Phe278fs					SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|LST3_ENST00000381541.3_Intron	p.F278fs	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			9	1045	+	Esophageal squamous(101;0.149)		278					E7EMT8|Q5JAR4	Frame_Shift_Del	DEL	ENST00000381545.3	37	c.826delT	CCDS8684.1																																																																																				0.363	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		7	714						7	714	---	---	---	---
RECQL	5965	broad.mit.edu	37	12	21644546	21644547	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr12:21644546_21644547insT	ENST00000444129.2	-	3	588_589	c.120_121insA	c.(118-123)aaagtcfs	p.V41fs	RECQL_ENST00000421138.2_Frame_Shift_Ins_p.V41fs	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	41					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.V41fs*2(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TTTGTCAGGACTTTTTTTTTCT	0.381								Other identified genes with known or suspected DNA repair function																														ENST00000444129.2																			1	Deletion - Frameshift(1)	p.V41fs*2(1)	large_intestine(1)	endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(118-123)aatcctfs	Other identified genes with known or suspected DNA repair function	RecQ protein-like (DNA helicase Q1-like)			,	10,4254		0,10,2122					,	3.3	0.2			53	10,8244		0,10,4117	no	frameshift,frameshift	RECQL	NM_032941.2,NM_002907.3	,	0,20,6239	A1A1,A1R,RR		0.1212,0.2345,0.1598	,	,		20,12498				SO:0001589	frameshift_variant	5965				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	g.chr12:21644546_21644547insT	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.121dupA	12.37:g.21644555_21644555dupT	ENSP00000416739:p.Val41fs					RECQL_ENST00000421138.2_Frame_Shift_Ins_p.NP40fs	p.NP40fs	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN			3	588_589	-			40					A8K6G2	Frame_Shift_Ins	INS	ENST00000444129.2	37	c.120_121insA	CCDS31756.1																																																																																				0.381	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907		7	237						7	237	---	---	---	---
OR10A7	121364	broad.mit.edu	37	12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tacttc>tac	p.F107del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414																																						ENST00000326258.1																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(304-309)tac>ta		olfactory receptor, family 10, subfamily A, member 7																																				SO:0001651	inframe_deletion	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615114_55615116delCTT	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.306_308delCTT	12.37:g.55615123_55615125delCTT	ENSP00000326718:p.Phe107del						p.YF102del	NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN			1	306_308	+			102					Q6IFD5|Q96R19	In_Frame_Del	DEL	ENST00000326258.1	37	c.306_308delCTT	CCDS31815.1																																																																																				0.414	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			8	1417						8	1417	---	---	---	---
OR6C75	390323	broad.mit.edu	37	12	55759486	55759486	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr12:55759486delT	ENST00000343399.3	+	1	592	c.592delT	c.(592-594)tttfs	p.F199fs		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L200fs*1(1)		endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						ACTCATGGCATTTTTTTTAGC	0.393																																						ENST00000343399.3																			1	Deletion - Frameshift(1)	p.L200fs*1(1)	large_intestine(1)	endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						c.(592-594)ttfs		olfactory receptor, family 6, subfamily C, member 75							154.0	133.0	140.0					12																	55759486		2203	4300	6503	SO:0001589	frameshift_variant	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759486delT		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.592delT	12.37:g.55759486delT	ENSP00000368987:p.Phe199fs						p.F199fs	NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN			1	592	+			199						Frame_Shift_Del	DEL	ENST00000343399.3	37	c.592delT	CCDS31820.1																																																																																				0.393	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			7	804						7	804	---	---	---	---
XPOT	11260	broad.mit.edu	37	12	64812755	64812755	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr12:64812755delT	ENST00000332707.5	+	6	899	c.370delT	c.(370-372)tttfs	p.F126fs		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	126	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.F126fs*6(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GTGGCCCAAGTTTTTTTTTGA	0.443																																						ENST00000332707.5																			1	Deletion - Frameshift(1)	p.F126fs*6(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(370-372)ttfs		exportin, tRNA							118.0	114.0	115.0					12																	64812755		2203	4300	6503	SO:0001589	frameshift_variant	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64812755delT	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.370delT	12.37:g.64812755delT	ENSP00000327821:p.Phe126fs						p.F126fs	NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	6	899	+			126			Necessary for interaction with Ran, nuclear localization and nuclear import.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Frame_Shift_Del	DEL	ENST00000332707.5	37	c.370delT	CCDS31852.1																																																																																				0.443	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		11	611						11	611	---	---	---	---
TMEM19	55266	broad.mit.edu	37	12	72094757	72094757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr12:72094757delT	ENST00000266673.5	+	6	1587	c.993delT	c.(991-993)ggtfs	p.G331fs		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	331						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGCTTGGGGTTTTTGGCCCA	0.433																																						ENST00000266673.5																			0				large_intestine(1)|lung(8)	9						c.(991-993)ggfs		transmembrane protein 19							199.0	184.0	189.0					12																	72094757		2203	4300	6503	SO:0001589	frameshift_variant	55266					integral to membrane		g.chr12:72094757delT	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.993delT	12.37:g.72094757delT	ENSP00000266673:p.Gly331fs						p.G331fs	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN		GBM - Glioblastoma multiforme(134;0.044)	6	1587	+		Breast(359;0.0889)	331					B2RDL2|Q53FY3|Q9NV41	Frame_Shift_Del	DEL	ENST00000266673.5	37	c.993delT	CCDS9002.1																																																																																				0.433	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	NM_018279		18	2399						18	2399	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132445252	132445253	+	Frame_Shift_Ins	INS	-	-	C	rs71453134		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr12:132445252_132445253insC	ENST00000333577.4	+	2	197_198	c.88_89insC	c.(88-90)gccfs	p.A30fs	EP400_ENST00000332482.4_Frame_Shift_Ins_p.A30fs|EP400_ENST00000330386.6_Frame_Shift_Ins_p.A30fs|EP400_ENST00000389562.2_Frame_Shift_Ins_p.A30fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.A30fs			Q96L91	EP400_HUMAN	E1A binding protein p400	30					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGAGCAGCCGGCCCACCCCAAC	0.649																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(88-90)ccafs		E1A binding protein p400																																				SO:0001589	frameshift_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132445252_132445253insC	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.91dupC	12.37:g.132445255_132445255dupC	ENSP00000333602:p.Ala30fs					EP400_ENST00000332482.4_Frame_Shift_Ins_p.P30fs|EP400_ENST00000389562.2_Frame_Shift_Ins_p.P30fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.P30fs|EP400_ENST00000330386.6_Frame_Shift_Ins_p.P30fs	p.P30fs			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	2	197_198	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	30					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Frame_Shift_Ins	INS	ENST00000333577.4	37	c.88_89insC																																																																																					0.649	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		7	48						7	48	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23914687	23914687	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr13:23914687delT	ENST00000382292.3	-	9	3601	c.3328delA	c.(3328-3330)attfs	p.I1110fs	SACS_ENST00000382298.3_Frame_Shift_Del_p.I1110fs|SACS_ENST00000402364.1_Frame_Shift_Del_p.I360fs			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1110					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGGCTTCAATTTTTTTTGCC	0.383																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(3328-3330)ttfs		spastic ataxia of Charlevoix-Saguenay (sacsin)							187.0	198.0	194.0					13																	23914687		2203	4300	6503	SO:0001589	frameshift_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23914687delT	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.3328delA	13.37:g.23914687delT	ENSP00000371729:p.Ile1110fs					SACS_ENST00000402364.1_Frame_Shift_Del_p.I360fs|SACS_ENST00000382292.3_Frame_Shift_Del_p.I1110fs	p.I1110fs	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	3916	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1110					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Frame_Shift_Del	DEL	ENST00000382292.3	37	c.3328delA	CCDS9300.2																																																																																				0.383	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		16	1321						16	1321	---	---	---	---
DIS3	22894	broad.mit.edu	37	13	73337684	73337684	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr13:73337684delT	ENST00000377767.4	-	16	2132	c.2032delA	c.(2032-2034)attfs	p.I678fs	DIS3_ENST00000377780.4_Frame_Shift_Del_p.I648fs|DIS3_ENST00000545453.1_Frame_Shift_Del_p.I516fs	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	678					CUT catabolic process (GO:0071034)|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)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TCCTCATGAATTTTTTTTGCA	0.358										Multiple Myeloma(4;0.011)																												ENST00000377767.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35						c.(2032-2034)ttfs		DIS3 mitotic control homolog (S. cerevisiae)							61.0	64.0	63.0					13																	73337684		2202	4300	6502	SO:0001589	frameshift_variant	22894				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	g.chr13:73337684delT	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.2032delA	13.37:g.73337684delT	ENSP00000366997:p.Ile678fs	Multiple Myeloma(4;0.011)				DIS3_ENST00000545453.1_Frame_Shift_Del_p.I516fs|DIS3_ENST00000377780.4_Frame_Shift_Del_p.I648fs	p.I678fs	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	16	2132	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	678					A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Frame_Shift_Del	DEL	ENST00000377767.4	37	c.2032delA	CCDS9447.1																																																																																				0.358	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		7	327						7	327	---	---	---	---
KIAA0391	9692	broad.mit.edu	37	14	35592700	35592700	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr14:35592700delT	ENST00000557565.1	+	2	630	c.249delT	c.(247-249)catfs	p.H83fs	KIAA0391_ENST00000321130.10_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000534898.4_Frame_Shift_Del_p.H83fs|PPP2R3C_ENST00000555644.1_5'Flank|KIAA0391_ENST00000604948.1_Intron|KIAA0391_ENST00000250377.7_5'UTR|PPP2R3C_ENST00000261475.5_5'Flank|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000603544.1_Frame_Shift_Del_p.H83fs	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	83					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CTGTTCCTCATTTTTTTTTAG	0.423																																						ENST00000557565.1																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14						c.(247-249)cafs		KIAA0391							49.0	48.0	48.0					14																	35592700		2203	4300	6503	SO:0001589	frameshift_variant	9692				tRNA processing	mitochondrion		g.chr14:35592700delT	AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 3"", ""proteinaceous RNase P"""	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.249delT	14.37:g.35592700delT	ENSP00000454657:p.His83fs					KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000534898.4_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000603544.1_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000604948.1_Intron|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000321130.10_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000250377.7_5'UTR	p.H83fs			O15091	MRRP3_HUMAN	Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)	2	630	+	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		83					B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Frame_Shift_Del	DEL	ENST00000557565.1	37	c.249delT	CCDS32063.1																																																																																				0.423	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672		12	245						12	245	---	---	---	---
FOXN3	1112	broad.mit.edu	37	14	89629149	89629151	+	In_Frame_Del	DEL	GAG	GAG	-	rs139532153		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr14:89629149_89629151delGAG	ENST00000345097.4	-	7	1196_1198	c.1080_1082delCTC	c.(1078-1083)tcctca>tca	p.360_361SS>S	FOXN3_ENST00000261302.5_In_Frame_Del_p.360_361SS>S|FOXN3_ENST00000555353.1_In_Frame_Del_p.338_339SS>S|FOXN3_ENST00000557258.1_In_Frame_Del_p.338_339SS>S	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	360					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCGTCGGCTGAGGAGGAGGAGG	0.65																																						ENST00000345097.4																			0				endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1078-1083)tca>tc		forkhead box N3			,	89,4171		9,71,2050					,	-2.3	1.0			26	192,8028		26,140,3944	no	coding,coding	FOXN3	NM_005197.3,NM_001085471.1	,	35,211,5994	A1A1,A1R,RR		2.3358,2.0892,2.2516	,	,		281,12199				SO:0001651	inframe_deletion	1112				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:89629149_89629151delGAG		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.1080_1082delCTC	14.37:g.89629158_89629160delGAG	ENSP00000343288:p.Ser361del					FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del	p.SS360del	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN			7	1196_1198	-			360					Q96II7|Q9UIE7	In_Frame_Del	DEL	ENST00000345097.4	37	c.1080_1082delCTC	CCDS41977.1																																																																																				0.650	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		10	303						10	303	---	---	---	---
SYNE3	161176	broad.mit.edu	37	14	95921888	95921890	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr14:95921888_95921890delCTC	ENST00000334258.5	-	5	975_977	c.961_963delGAG	c.(961-963)gagdel	p.E321del	SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	321					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CCCGCAGCCGCTCCTCCTCCTCC	0.616																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(961-963)del		spectrin repeat containing, nuclear envelope family member 3																																				SO:0001651	inframe_deletion	161176							g.chr14:95921888_95921890delCTC	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.961_963delGAG	14.37:g.95921897_95921899delCTC	ENSP00000334308:p.Glu321del					SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del	p.E321del	NM_152592.3	NP_689805.3					5	975_977	-								A6H8H3|Q86SX5|Q8N7G8	In_Frame_Del	DEL	ENST00000334258.5	37	c.961_963delGAG	CCDS9935.1																																																																																				0.616	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		8	784						8	784	---	---	---	---
IGHV3-48	28424	broad.mit.edu	37	14	106993939	106993941	+	RNA	DEL	TAC	TAC	-	rs199815306|rs144292224	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr14:106993939_106993941delTAC	ENST00000390624.2	-	0	302_304									immunoglobulin heavy variable 3-48																		TAGTATATGGTACTACTACTACT	0.502																																						ENST00000390624.2																			0																	307,3283		14,279,1502						-5.2	0.0		dbSNP_134	157	272,7558		29,214,3672	no	intergenic				43,493,5174	A1A1,A1R,RR		3.4738,8.5515,5.0701				579,10841						0							g.chr14:106993939_106993941delTAC	M99675		14q32.33	2012-02-08			ENSG00000211964	ENSG00000211964		"""Immunoglobulins / IGH locus"""	5606	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151959		14.37:g.106993948_106993950delTAC														0	302_304	-									RNA	DEL	ENST00000390624.2	37																																																																																						0.502	IGHV3-48-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324605.1	NG_001019		9	1024						9	1024	---	---	---	---
ICE2	79664	broad.mit.edu	37	15	60745782	60745782	+	Frame_Shift_Del	DEL	A	A	-	rs181931922	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr15:60745782delA	ENST00000561114.1	-	9	1307	c.1145delT	c.(1144-1146)ttcfs	p.F382fs	NARG2_ENST00000439632.1_Intron|NARG2_ENST00000261520.4_Intron	NM_001276385.1	NP_001263314.1														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CCCTTAGGGGAAAAAAAAAGC	0.338																																						ENST00000561114.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						c.(1144-1146)tcfs		NMDA receptor regulated 2							50.0	51.0	51.0					15																	60745782		2203	4297	6500	SO:0001589	frameshift_variant	79664					nucleus		g.chr15:60745782delA																												ENST00000561114.1:c.1145delT	15.37:g.60745782delA	ENSP00000454162:p.Phe382fs					NARG2_ENST00000439632.1_Intron|NARG2_ENST00000261520.4_Intron	p.F382fs	NM_001276385.1	NP_001263314.1	Q659A1	NARG2_HUMAN			9	1307	-			0						Frame_Shift_Del	DEL	ENST00000561114.1	37	c.1145delT																																																																																					0.338	NARG2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000416605.1			8	131						8	131	---	---	---	---
KIF7	374654	broad.mit.edu	37	15	90189153	90189155	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr15:90189153_90189155delCTC	ENST00000394412.3	-	8	1967_1969	c.1891_1893delGAG	c.(1891-1893)gagdel	p.E631del		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	631	Poly-Glu.|Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GCCTGGGCGGctcctcctcctcc	0.64																																						ENST00000394412.3																			0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25						c.(1891-1893)del		kinesin family member 7				11,4253		4,3,2125						-1.0	0.0			91	18,8234		5,8,4113	no	coding	KIF7	NM_198525.2		9,11,6238	A1A1,A1R,RR		0.2181,0.258,0.2317				29,12487				SO:0001651	inframe_deletion	374654				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90189153_90189155delCTC	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.1891_1893delGAG	15.37:g.90189162_90189164delCTC	ENSP00000377934:p.Glu631del						p.E631del	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		8	1967_1969	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		631			Poly-Glu.		Q3SXY0|Q6UXE9|Q8IW72	In_Frame_Del	DEL	ENST00000394412.3	37	c.1891_1893delGAG	CCDS32325.2																																																																																				0.640	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		9	267						9	267	---	---	---	---
EME2	197342	broad.mit.edu	37	16	1824298	1824300	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr16:1824298_1824300delTGC	ENST00000568449.1	+	3	443_445	c.422_424delTGC	c.(421-426)ttgctg>ttg	p.141_142LL>L	NME3_ENST00000219302.3_5'Flank|EME2_ENST00000307394.7_In_Frame_Del_p.141_142LL>L|NME3_ENST00000563498.1_5'Flank|MRPS34_ENST00000397375.2_5'Flank|MRPS34_ENST00000177742.3_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	141					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GAACAGGAATTGCTGCTGCTGCT	0.655								Direct reversal of damage;Homologous recombination																														ENST00000307394.7																			0				central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						c.(421-426)ttg>t	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease subunit 2																																				SO:0001651	inframe_deletion	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1824298_1824300delTGC	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"""	610886	"""essential meiotic endonuclease 1 homolog 2 (S. pombe)"""			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.422_424delTGC	16.37:g.1824307_1824309delTGC	ENSP00000457353:p.Leu145del					EME2_ENST00000568449.1_In_Frame_Del_p.LL143del	p.LL143del			A4GXA9	EME2_HUMAN			3	422_424	+			143					Q8TEP2|Q96RY3	In_Frame_Del	DEL	ENST00000568449.1	37	c.422_424delTGC	CCDS58404.1																																																																																				0.655	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		8	598						8	598	---	---	---	---
NPIPB5	100132247	broad.mit.edu	37	16	22545540	22545558	+	Frame_Shift_Del	DEL	CGAGCGTCTGCGGGGGCCG	CGAGCGTCTGCGGGGGCCG	-	rs369022450		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr16:22545540_22545558delCGAGCGTCTGCGGGGGCCG	ENST00000517539.1	+	8	1311_1329	c.1236_1254delCGAGCGTCTGCGGGGGCCG	c.(1234-1254)gccgagcgtctgcgggggccgfs	p.AERLRGP412fs	NPIPB5_ENST00000424340.1_Frame_Shift_Del_p.AERLRGP412fs|NPIPB5_ENST00000415654.1_3'UTR			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	412	Pro-rich.					integral component of membrane (GO:0016021)											AGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCT	0.562																																						ENST00000424340.1																			0											c.(1234-1254)gcfs		nuclear pore complex interacting protein family, member B5																																				SO:0001589	frameshift_variant	100132247							g.chr16:22545540_22545558delCGAGCGTCTGCGGGGGCCG		CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1236_1254delCGAGCGTCTGCGGGGGCCG	16.37:g.22545540_22545558delCGAGCGTCTGCGGGGGCCG	ENSP00000430633:p.Ala412fs					NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Frame_Shift_Del_p.AERLRGP412fs	p.AERLRGP412fs	NM_001135865.1	NP_001129337.1					7	1515_1533	+								B4DK13	Frame_Shift_Del	DEL	ENST00000517539.1	37	c.1236_1254delCGAGCGTCTGCGGGGGCCG	CCDS45443.1																																																																																				0.562	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374343.2	NM_001135865		9	47						9	47	---	---	---	---
ARHGAP17	55114	broad.mit.edu	37	16	24942180	24942180	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr16:24942180delG	ENST00000289968.6	-	19	2509	c.2440delC	c.(2440-2442)caafs	p.Q814fs	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Frame_Shift_Del_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)		CCAGGAGGTTGGGGGGGTGGG	0.577																																						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)aafs		Rho GTPase activating protein 17							114.0	128.0	123.0					16																	24942180		2197	4300	6497	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.chr16:24942180delG	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.2440delC	16.37:g.24942180delG	ENSP00000289968:p.Gln814fs					ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Frame_Shift_Del_p.Q736fs	p.Q814fs	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	19	2509	-			814			Pro-rich.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Frame_Shift_Del	DEL	ENST00000289968.6	37	c.2440delC	CCDS32409.1																																																																																				0.577	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		12	1328						12	1328	---	---	---	---
RABEP2	79874	broad.mit.edu	37	16	28931200	28931202	+	In_Frame_Del	DEL	CTG	CTG	-	rs373504496		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr16:28931200_28931202delCTG	ENST00000358201.4	-	3	925_927	c.337_339delCAG	c.(337-339)cagdel	p.Q113del	RABEP2_ENST00000544477.1_In_Frame_Del_p.Q42del|RABEP2_ENST00000357573.6_In_Frame_Del_p.Q113del|RABEP2_ENST00000561803.1_5'UTR	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	113	Poly-Gln.				endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CCTCACAGTCCTGCTGCTGCTGC	0.64																																					Pancreas(66;639 1284 10093 31061 49099)	ENST00000358201.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						c.(337-339)del		rabaptin, RAB GTPase binding effector protein 2																																				SO:0001651	inframe_deletion	79874				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity	g.chr16:28931200_28931202delCTG	AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.337_339delCAG	16.37:g.28931209_28931211delCTG	ENSP00000350934:p.Gln113del					RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000357573.6_In_Frame_Del_p.Q113del|RABEP2_ENST00000544477.1_In_Frame_Del_p.Q42del	p.Q113del	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN			3	925_927	-			113			Poly-Gln.			In_Frame_Del	DEL	ENST00000358201.4	37	c.337_339delCAG	CCDS42140.1																																																																																				0.640	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		8	389						8	389	---	---	---	---
CTB-134H23.3	0	broad.mit.edu	37	16	29113498	29113498	+	RNA	DEL	T	T	-	rs11366120	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr16:29113498delT	ENST00000562618.1	-	0	1840				RRN3P2_ENST00000564580.1_RNA																							AGGAGGTGGAttttttttttc	0.542													|||unknown(NO_COVERAGE)	2145	0.428315	0.5507	0.4856	5008	,	,		13214	0.248		0.4334	False		,,,				2504	0.4029					ENST00000564580.1																			0																																																			0							g.chr16:29113498delT																													16.37:g.29113498delT														0	1360	+									RNA	DEL	ENST00000562618.1	37																																																																																						0.542	CTB-134H23.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433241.1			9	34						9	34	---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29994531	29994533	+	In_Frame_Del	DEL	GAG	GAG	-	rs368747234		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr16:29994531_29994533delGAG	ENST00000308893.4	+	12	2181_2183	c.1138_1140delGAG	c.(1138-1140)gagdel	p.E392del	TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	392	Glu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CAACgaggaagaggaggaggagg	0.611																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(1138-1140)del		TAO kinase 2																																				SO:0001651	inframe_deletion	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29994531_29994533delGAG	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1138_1140delGAG	16.37:g.29994540_29994542delGAG	ENSP00000310094:p.Glu392del					TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del	p.E392del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			12	2181_2183	+			392			Glu-rich.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	In_Frame_Del	DEL	ENST00000308893.4	37	c.1138_1140delGAG	CCDS10663.1																																																																																				0.611	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		7	459						7	459	---	---	---	---
ORAI3	93129	broad.mit.edu	37	16	30964972	30964974	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr16:30964972_30964974delGTG	ENST00000318663.4	+	2	919_921	c.695_697delGTG	c.(694-699)tgtggt>tgt	p.G236del	ORAI3_ENST00000562699.1_Intron|ORAI3_ENST00000566237.1_In_Frame_Del_p.G236del|AC135048.13_ENST00000566056.1_RNA	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	236					store-operated calcium entry (GO:0002115)	integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						CGGCAAGCCTGTGGTGGTGGTGG	0.645											OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000318663.4																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						c.(694-699)tgt>t		ORAI calcium release-activated calcium modulator 3																																				SO:0001651	inframe_deletion	93129					integral to membrane	protein binding	g.chr16:30964972_30964974delGTG	BC006126	CCDS10697.1	16p11.2	2007-08-14	2007-08-14	2007-08-14	ENSG00000175938	ENSG00000175938		"""ORAI calcium release-activated calcium modulators"""	28185	protein-coding gene	gene with protein product		610930	"""transmembrane protein 142C"""	TMEM142C		16582901	Standard	NM_152288		Approved	MGC13024	uc002eac.3	Q9BRQ5	OTTHUMG00000132409	ENST00000318663.4:c.695_697delGTG	16.37:g.30964981_30964983delGTG	ENSP00000322249:p.Gly236del		OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	821	ORAI3_ENST00000566237.1_In_Frame_Del_p.CG232del|AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000562699.1_Intron	p.CG232del	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN			2	919_921	+			232					Q96BI8	In_Frame_Del	DEL	ENST00000318663.4	37	c.695_697delGTG	CCDS10697.1																																																																																				0.645	ORAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255545.20	NM_152288		7	1165						7	1165	---	---	---	---
SETD1A	9739	broad.mit.edu	37	16	30982809	30982811	+	In_Frame_Del	DEL	TCC	TCC	-	rs531337171|rs569719496	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr16:30982809_30982811delTCC	ENST00000262519.8	+	13	3813_3815	c.3127_3129delTCC	c.(3127-3129)tccdel	p.S1058del		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1058	Ser-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAGctcctcatcctcctcctcct	0.547																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(3127-3129)del		SET domain containing 1A																																				SO:0001651	inframe_deletion	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30982809_30982811delTCC	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3127_3129delTCC	16.37:g.30982818_30982820delTCC	ENSP00000262519:p.Ser1058del						p.S1058del	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			13	3813_3815	+			1058			Ser-rich.		A6NP62|Q6PIF3|Q8TAJ6	In_Frame_Del	DEL	ENST00000262519.8	37	c.3127_3129delTCC	CCDS32435.1																																																																																				0.547	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		14	558						14	558	---	---	---	---
IRX6	79190	broad.mit.edu	37	16	55362674	55362676	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr16:55362674_55362676delGAG	ENST00000290552.7	+	5	2116_2118	c.784_786delGAG	c.(784-786)gagdel	p.E268del	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	268					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCTggaggaagaggaggaggagg	0.626																																						ENST00000290552.7																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(784-786)del		iroquois homeobox 6																																				SO:0001651	inframe_deletion	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55362674_55362676delGAG	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.784_786delGAG	16.37:g.55362683_55362685delGAG	ENSP00000290552:p.Glu268del					RP11-26L20.3_ENST00000558730.2_RNA	p.E268del	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			5	2116_2118	+			268					B2RN06|Q7Z2K0	In_Frame_Del	DEL	ENST00000290552.7	37	c.784_786delGAG	CCDS32449.1																																																																																				0.626	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		19	494						19	494	---	---	---	---
RANBP10	57610	broad.mit.edu	37	16	67763279	67763281	+	In_Frame_Del	DEL	GAG	GAG	-	rs141826437	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr16:67763279_67763281delGAG	ENST00000317506.3	-	10	1369_1371	c.1254_1256delCTC	c.(1252-1257)tcctcg>tcg	p.418_419SS>S	RANBP10_ENST00000411657.2_In_Frame_Del_p.301_302SS>S|RANBP10_ENST00000448631.2_In_Frame_Del_p.362_363SS>S|RANBP10_ENST00000602677.1_In_Frame_Del_p.418_419SS>S|RANBP10_ENST00000536251.1_In_Frame_Del_p.189_190SS>S	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	418	Ser-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.S418S(2)		endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		ggaagaggacgaggaggaggagg	0.567																																						ENST00000317506.3																			2	Substitution - coding silent(2)	p.S418S(2)	endometrium(2)	endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(1252-1257)tcg>tc		RAN binding protein 10																																				SO:0001651	inframe_deletion	57610							g.chr16:67763279_67763281delGAG	AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.1254_1256delCTC	16.37:g.67763288_67763290delGAG	ENSP00000316589:p.Ser422del					RANBP10_ENST00000411657.2_In_Frame_Del_p.SS303del|RANBP10_ENST00000602677.1_In_Frame_Del_p.SS420del|RANBP10_ENST00000536251.1_In_Frame_Del_p.SS191del|RANBP10_ENST00000448631.2_In_Frame_Del_p.SS364del	p.SS420del	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	10	1369_1371	-		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)	420			Ser-rich.		A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	In_Frame_Del	DEL	ENST00000317506.3	37	c.1254_1256delCTC	CCDS32469.1																																																																																				0.567	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850		7	300						7	300	---	---	---	---
EDC4	23644	broad.mit.edu	37	16	67913767	67913769	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr16:67913767_67913769delCAG	ENST00000358933.5	+	16	2075_2077	c.1836_1838delCAG	c.(1834-1839)cccagc>ccc	p.S617del	CTC-479C5.10_ENST00000572067.1_lincRNA|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	617	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1834-1839)ccc>cc		enhancer of mRNA decapping 4																																				SO:0001651	inframe_deletion	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913767_67913769delCAG	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1836_1838delCAG	16.37:g.67913776_67913778delCAG	ENSP00000351811:p.Ser617del						p.PS612del	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2075_2077	+		Ovarian(137;0.0563)	612			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	In_Frame_Del	DEL	ENST00000358933.5	37	c.1836_1838delCAG	CCDS10849.1																																																																																				0.611	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		10	584						10	584	---	---	---	---
EDC4	23644	broad.mit.edu	37	16	67913786	67913788	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr16:67913786_67913788delAGC	ENST00000358933.5	+	16	2094_2096	c.1855_1857delAGC	c.(1855-1857)agcdel	p.S629del	CTC-479C5.10_ENST00000572067.1_lincRNA|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	629	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		cagcagcggtagcagcagcagca	0.616																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1855-1857)del		enhancer of mRNA decapping 4																																				SO:0001651	inframe_deletion	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913786_67913788delAGC	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1855_1857delAGC	16.37:g.67913795_67913797delAGC	ENSP00000351811:p.Ser629del						p.S629del	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2094_2096	+		Ovarian(137;0.0563)	629			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	In_Frame_Del	DEL	ENST00000358933.5	37	c.1855_1857delAGC	CCDS10849.1																																																																																				0.616	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		7	452						7	452	---	---	---	---
NFAT5	10725	broad.mit.edu	37	16	69726420	69726422	+	In_Frame_Del	DEL	CAG	CAG	-	rs369235958		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr16:69726420_69726422delCAG	ENST00000354436.2	+	12	2956_2958	c.2638_2640delCAG	c.(2638-2640)cagdel	p.Q888del	NFAT5_ENST00000349945.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	888	Poly-Gln.				cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q804Q(1)|p.Q898Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATCTAATcaacagcagcagcagc	0.473																																						ENST00000349945.1																			2	Substitution - coding silent(2)	p.Q804Q(1)|p.Q898Q(1)	endometrium(2)	NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2410-2412)del		nuclear factor of activated T-cells 5, tonicity-responsive																																				SO:0001651	inframe_deletion	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69726420_69726422delCAG	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2638_2640delCAG	16.37:g.69726429_69726431delCAG	ENSP00000346420:p.Gln888del					NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del	p.Q812del	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	3962_3964	+			888					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	In_Frame_Del	DEL	ENST00000354436.2	37	c.2410_2412delCAG	CCDS10881.1																																																																																				0.473	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		7	337						7	337	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													|||unknown(NO_COVERAGE)	1085	0.216653	0.2474	0.1888	5008	,	,		27432	0.1379		0.2604	False		,,,				2504	0.2311					ENST00000429810.2																			0																																																			0							g.chr16:74394379_74394380insA																													16.37:g.74394382_74394382dupA														0	435	-									RNA	INS	ENST00000429810.2	37																																																																																						0.347	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			12	28						12	28	---	---	---	---
ADAMTS18	170692	broad.mit.edu	37	16	77356310	77356311	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr16:77356310_77356311insA	ENST00000282849.5	-	14	2503_2504	c.2085_2086insT	c.(2083-2088)tttgcafs	p.A696fs		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	696	Cys-rich.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A696fs*18(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CCGGACATTGCAAAAAAAAATT	0.406																																						ENST00000282849.5																			2	Insertion - Frameshift(2)	p.A696fs*18(2)	large_intestine(2)	NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(2083-2088)ttcaatfs		ADAM metallopeptidase with thrombospondin type 1 motif, 18																																				SO:0001589	frameshift_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77356310_77356311insA	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2086dupT	16.37:g.77356319_77356319dupA	ENSP00000282849:p.Ala696fs						p.N696fs	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			14	2503_2504	-			696			Cys-rich.		Q6P4R5|Q6ZWJ9	Frame_Shift_Ins	INS	ENST00000282849.5	37	c.2085_2086insT	CCDS10926.1																																																																																				0.406	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			10	513						10	513	---	---	---	---
NUFIP2	57532	broad.mit.edu	37	17	27620990	27620992	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr17:27620990_27620992delGCT	ENST00000225388.4	-	1	144_146	c.86_88delAGC	c.(85-90)cagccg>ccg	p.Q29del	NUFIP2_ENST00000579665.1_In_Frame_Del_p.Q29del	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	29	His-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			tggtggtgcggctgctgctgctg	0.591																																						ENST00000225388.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(85-90)ccg>c		nuclear fragile X mental retardation protein interacting protein 2																																				SO:0001651	inframe_deletion	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27620990_27620992delGCT	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.86_88delAGC	17.37:g.27620999_27621001delGCT	ENSP00000225388:p.Gln29del					NUFIP2_ENST00000579665.1_In_Frame_Del_p.QP29del	p.QP29del	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		1	144_146	-			29			His-rich.		A1L3A6|Q9P2M5	In_Frame_Del	DEL	ENST00000225388.4	37	c.86_88delAGC	CCDS32600.1																																																																																				0.591	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		8	589						8	589	---	---	---	---
ZNF207	7756	broad.mit.edu	37	17	30677314	30677316	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr17:30677314_30677316delAAG	ENST00000321233.6	+	1	164_166	c.10_12delAAG	c.(10-12)aagdel	p.K7del	ZNF207_ENST00000577908.1_In_Frame_Del_p.K7del|ZNF207_ENST00000341711.6_In_Frame_Del_p.K7del|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000394673.2_In_Frame_Del_p.K7del|ZNF207_ENST00000342555.6_5'UTR|MIR632_ENST00000385193.1_RNA|ZNF207_ENST00000394670.4_In_Frame_Del_p.K7del	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	7	Microtubule-binding region.				attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TATGGGTCGCAAGAAGAAGAAGC	0.542																																						ENST00000394670.4																			0				breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10						c.(10-12)del		zinc finger protein 207																																				SO:0001651	inframe_deletion	7756					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:30677314_30677316delAAG	AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"""Zinc fingers, C2H2-type"""	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.10_12delAAG	17.37:g.30677323_30677325delAAG	ENSP00000322777:p.Lys7del					ZNF207_ENST00000577908.1_In_Frame_Del_p.K7del|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000342555.6_5'UTR|ZNF207_ENST00000341711.6_In_Frame_Del_p.K7del|ZNF207_ENST00000321233.6_In_Frame_Del_p.K7del|ZNF207_ENST00000394673.2_In_Frame_Del_p.K7del	p.K7del	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		1	179_181	+		Breast(31;0.116)|Ovarian(249;0.182)	7					A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	In_Frame_Del	DEL	ENST00000321233.6	37	c.10_12delAAG	CCDS11271.1																																																																																				0.542	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2			8	1322						8	1322	---	---	---	---
LOC100131347	100131347	broad.mit.edu	37	17	37213527	37213528	+	RNA	INS	-	-	TTG	rs201590817|rs200042883		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr17:37213527_37213528insTTG	ENST00000583447.1	+	0	141					NR_036551.1																						GAAGGACTCttttttttttttt	0.55																																						ENST00000583447.1																			0																																																			0							g.chr17:37213527_37213528insTTG																													17.37:g.37213527_37213528insTTG								NR_036551.1						0	141	+									RNA	INS	ENST00000583447.1	37																																																																																						0.550	CTD-2206N4.4-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444106.1			17	10						17	10	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1360-1362)cafs		cell division cycle 27							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			11	1454	-			454					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1361delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			30	176						30	176	---	---	---	---
SPAG9	9043	broad.mit.edu	37	17	49077041	49077041	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr17:49077041delT	ENST00000262013.7	-	14	1853	c.1645delA	c.(1645-1647)aggfs	p.R549fs	SPAG9_ENST00000510283.1_Frame_Shift_Del_p.R392fs|SPAG9_ENST00000505279.1_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000357122.4_Frame_Shift_Del_p.R535fs	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	549					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.R535fs*28(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			ATGCTTGACCTTTTTTTTTCC	0.323																																						ENST00000262013.7																			1	Deletion - Frameshift(1)	p.R535fs*28(1)	large_intestine(1)	NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(1645-1647)ggfs		sperm associated antigen 9							158.0	136.0	144.0					17																	49077041		2203	4300	6503	SO:0001589	frameshift_variant	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49077041delT	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.1645delA	17.37:g.49077041delT	ENSP00000262013:p.Arg549fs					SPAG9_ENST00000505279.1_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000510283.1_Frame_Shift_Del_p.R392fs|SPAG9_ENST00000357122.4_Frame_Shift_Del_p.R535fs	p.R549fs	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		14	1853	-			549					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Frame_Shift_Del	DEL	ENST00000262013.7	37	c.1645delA	CCDS45740.1																																																																																				0.323	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		12	206						12	206	---	---	---	---
COIL	8161	broad.mit.edu	37	17	55028016	55028016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr17:55028016delT	ENST00000240316.4	-	2	621	c.587delA	c.(586-588)aagfs	p.K196fs		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	196	Lys-rich (basic).					Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					ATTCTTAGCCTTTTTTTTATA	0.393																																						ENST00000240316.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15						c.(586-588)agfs		coilin							141.0	132.0	135.0					17																	55028016		2203	4300	6503	SO:0001589	frameshift_variant	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55028016delT	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.587delA	17.37:g.55028016delT	ENSP00000240316:p.Lys196fs						p.K196fs	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN			2	621	-	Breast(9;6.15e-08)		196			Lys-rich (basic).		B2R931	Frame_Shift_Del	DEL	ENST00000240316.4	37	c.587delA	CCDS11592.1																																																																																				0.393	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			7	457						7	457	---	---	---	---
TEX2	55852	broad.mit.edu	37	17	62291438	62291440	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr17:62291438_62291440delTCC	ENST00000583097.1	-	2	310_312	c.138_140delGGA	c.(136-141)gaggaa>gaa	p.46_47EE>E	TEX2_ENST00000584379.1_In_Frame_Del_p.46_47EE>E|TEX2_ENST00000258991.3_In_Frame_Del_p.46_47EE>E			Q8IWB9	TEX2_HUMAN	testis expressed 2	46	Poly-Glu.				signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		ctcctcctcttcctcctcctcct	0.552																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(136-141)gaa>ga		testis expressed 2																																				SO:0001651	inframe_deletion	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62291438_62291440delTCC	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.138_140delGGA	17.37:g.62291447_62291449delTCC	ENSP00000462665:p.Glu51del					TEX2_ENST00000583097.1_In_Frame_Del_p.EE50del|TEX2_ENST00000584379.1_In_Frame_Del_p.EE50del	p.EE50del			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	222_224	-			50			Poly-Glu.		Q6AHZ5|Q8N3L0|Q9C0C5	In_Frame_Del	DEL	ENST00000583097.1	37	c.138_140delGGA																																																																																					0.552	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		7	434						7	434	---	---	---	---
AMZ2P1	201283	broad.mit.edu	37	17	62968575	62968575	+	RNA	DEL	T	T	-	rs376847634	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr17:62968575delT	ENST00000430983.1	-	0	1593					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		TTGGTTGGAATTTTTTTCCCT	0.333													|||unknown(NO_COVERAGE)	3	0.000599042	0.0	0.0	5008	,	,		17809	0.0		0.0	False		,,,				2504	0.0031					ENST00000430983.1																			0																																																			0							g.chr17:62968575delT	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62968575delT								NR_026903.1						0	1593	-									RNA	DEL	ENST00000430983.1	37																																																																																						0.333	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		9	220						9	220	---	---	---	---
SRP68	6730	broad.mit.edu	37	17	74068528	74068530	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr17:74068528_74068530delGCC	ENST00000307877.2	-	1	204_206	c.43_45delGGC	c.(43-45)ggcdel	p.G15del	SRP68_ENST00000539137.1_In_Frame_Del_p.G15del|SRP68_ENST00000355113.5_5'UTR|GALR2_ENST00000329003.3_5'Flank	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	15	Poly-Gly.			Missing (in Ref. 1; AAF24308). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						cgccgccactgccgccgccgccg	0.709																																						ENST00000307877.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						c.(43-45)del		signal recognition particle 68kDa				26,1444		5,16,714						-7.9	0.0			11	113,3743		17,79,1832	no	coding	SRP68	NM_014230.2		22,95,2546	A1A1,A1R,RR		2.9305,1.7687,2.6098				139,5187				SO:0001651	inframe_deletion	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74068528_74068530delGCC	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.43_45delGGC	17.37:g.74068537_74068539delGCC	ENSP00000312066:p.Gly15del					SRP68_ENST00000539137.1_In_Frame_Del_p.G15del|SRP68_ENST00000355113.5_5'UTR	p.G15del	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN			1	204_206	-			15	Missing (in Ref. 1).		Poly-Gly.		B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	In_Frame_Del	DEL	ENST00000307877.2	37	c.43_45delGGC	CCDS11738.1																																																																																				0.709	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		7	280						7	280	---	---	---	---
ROCK1P1	727758	broad.mit.edu	37	18	112519	112520	+	RNA	INS	-	-	A	rs199734221		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr18:112519_112520insA	ENST00000608049.1	+	0	389					NR_033770.1				Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1																		CCAGCTCCCCCGGGGCCTCCGT	0.53																																						ENST00000576266.1																			0																																																			0							g.chr18:112519_112520insA			18p11.32	2012-10-04			ENSG00000263006	ENSG00000263006			37832	pseudogene	pseudogene							Standard	NR_033770		Approved		uc002kke.3		OTTHUMG00000177913		18.37:g.112519_112520insA														0	153_154	+									RNA	INS	ENST00000608049.1	37																																																																																						0.530	ROCK1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472417.1			7	111						7	111	---	---	---	---
NEDD4L	23327	broad.mit.edu	37	18	55992284	55992286	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr18:55992284_55992286delTCC	ENST00000400345.3	+	9	853_855	c.570_572delTCC	c.(568-573)cttcct>ctt	p.P194del	NEDD4L_ENST00000586263.1_In_Frame_Del_p.P186del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.P194del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000456173.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000456986.1_In_Frame_Del_p.P73del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.P194del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.P73del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.P186del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.P194del	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	194	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498																																						ENST00000456986.1																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						c.(205-210)ctt>ct		neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	0				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:55992284_55992286delTCC	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.570_572delTCC	18.37:g.55992293_55992295delTCC	ENSP00000383199:p.Pro194del					NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del	p.LP69del	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN			9	807_809	+			190			C2.		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	In_Frame_Del	DEL	ENST00000400345.3	37	c.207_209delTCC	CCDS45872.1																																																																																				0.498	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			9	830						9	830	---	---	---	---
CHERP	10523	broad.mit.edu	37	19	16640581	16640583	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:16640581_16640583delTGC	ENST00000198939.6	-	8	1074_1076	c.1038_1040delGCA	c.(1036-1041)cagcaa>caa	p.346_347QQ>Q	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000546361.2_In_Frame_Del_p.335_336QQ>Q					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						ctgctgctgttgctgctgctgct	0.67																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(1003-1008)caa>ca		calcium homeostasis endoplasmic reticulum protein																																				SO:0001651	inframe_deletion	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16640581_16640583delTGC	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1038_1040delGCA	19.37:g.16640590_16640592delTGC	ENSP00000198939:p.Gln352del					CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_In_Frame_Del_p.QQ350del	p.QQ339del	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			8	1156_1158	-			339			Gln-rich.			In_Frame_Del	DEL	ENST00000198939.6	37	c.1005_1007delGCA																																																																																					0.670	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		14	243						14	243	---	---	---	---
HAUS8	93323	broad.mit.edu	37	19	17160706	17160707	+	Frame_Shift_Del	DEL	GA	GA	-	rs532006952		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:17160706_17160707delGA	ENST00000253669.5	-	11	1399_1400	c.1209_1210delTC	c.(1207-1212)tctcgtfs	p.R404fs	HAUS8_ENST00000593360.1_Frame_Shift_Del_p.R343fs|HAUS8_ENST00000448593.2_Frame_Shift_Del_p.R403fs|CTD-2528A14.3_ENST00000598893.1_RNA			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	404					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CTCCCTGAACGAGAGAGAGAGG	0.495																																						ENST00000593360.1																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						c.(1024-1029)tcgtfs		HAUS augmin-like complex, subunit 8																																				SO:0001589	frameshift_variant	93323				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr19:17160706_17160707delGA	BC004398	CCDS32948.1, CCDS46009.1	19p13.11	2013-10-11	2009-04-20	2009-04-20	ENSG00000131351	ENSG00000131351		"""HAUS augmin-like complex subunits"""	30532	protein-coding gene	gene with protein product		613434	"""HEC1/NDC80 interacting, centrosome associated 1"""	HICE1		19427217	Standard	XM_005260154		Approved	MGC20533, NY-SAR-48	uc002nfe.3	Q9BT25		ENST00000253669.5:c.1209_1210delTC	19.37:g.17160714_17160715delGA	ENSP00000253669:p.Arg404fs					HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs|HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs	p.SR342fs			Q9BT25	HAUS8_HUMAN			10	3044_3045	-			403					B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Frame_Shift_Del	DEL	ENST00000253669.5	37	c.1026_1027delTC	CCDS32948.1																																																																																				0.495	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463015.1	NM_001011699		13	1374						13	1374	---	---	---	---
ZNF43	7594	broad.mit.edu	37	19	22002025	22002026	+	Splice_Site	INS	-	-	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:22002025_22002026insA	ENST00000354959.4	-	2	173		c.e2-2		ZNF43_ENST00000598381.1_Splice_Site|ZNF43_ENST00000598288.1_Splice_Site|ZNF43_ENST00000595461.1_Splice_Site|ZNF43_ENST00000594012.1_Splice_Site	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACAA	0.386																																						ENST00000594012.1																			1	Unknown(1)	p.?(1)	ovary(1)	autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.e5-2		zinc finger protein 43																																				SO:0001630	splice_region_variant	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22002025_22002026insA	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.4-2->T	19.37:g.22002033_22002033dupA						ZNF43_ENST00000595461.1_Splice_Site|ZNF43_ENST00000598288.1_Splice_Site|ZNF43_ENST00000354959.4_Splice_Site|ZNF43_ENST00000598381.1_Splice_Site		NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	5	500	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)						A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Splice_Site	INS	ENST00000354959.4	37		CCDS12413.2																																																																																				0.386	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423	Intron	8	450						8	450	---	---	---	---
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	CCT	-	rs151129136		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:38882864_38882866delCCT	ENST00000338502.4	+	3	462_464	c.359_361delCCT	c.(358-363)ccctcc>ccc	p.S128del	SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000587013.1_In_Frame_Del_p.S172del|SPRED3_ENST00000586301.1_In_Frame_Del_p.S128del	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	128	Ser-rich.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.645																																						ENST00000587013.1																			0				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9						c.(490-495)ccc>c		sprouty-related, EVH1 domain containing 3			,	401,4,3395		26,0,349,0,4,1521					,	3.3	0.9		dbSNP_134	44	1035,11,6892		107,0,821,1,9,3031	no	codingComplex,codingComplex	SPRED3	NM_001042522.1,NM_001039616.1	,	133,0,1170,1,13,4552	A1A1,A1A2,A1R,A2A2,A2R,RR		13.1771,10.6579,12.3616	,	,		1436,15,10287				SO:0001651	inframe_deletion	399473				multicellular organismal development			g.chr19:38882864_38882866delCCT		CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.359_361delCCT	19.37:g.38882873_38882875delCCT	ENSP00000345405:p.Ser128del					SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del|SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del	p.PS164del			Q2MJR0	SPRE3_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	569_571	+	all_cancers(60;3.4e-06)		120					Q2MJR1	In_Frame_Del	DEL	ENST00000338502.4	37	c.491_493delCCT	CCDS42560.1																																																																																				0.645	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459216.1	XM_351191		7	189						7	189	---	---	---	---
ERF	2077	broad.mit.edu	37	19	42753149	42753151	+	In_Frame_Del	DEL	GAA	GAA	-	rs199960550		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:42753149_42753151delGAA	ENST00000222329.4	-	4	1270_1272	c.1113_1115delTTC	c.(1111-1116)tcttcc>tcc	p.371_372SS>S	ERF_ENST00000440177.2_In_Frame_Del_p.296_297SS>S|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	371	Poly-Ser.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GAATGGGGAGGAAGAAGAAGAAG	0.68																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1111-1116)tcc>tc		Ets2 repressor factor				95,3823		27,41,1891						-1.6	0.9			39	51,7895		7,37,3929	no	coding	ERF	NM_006494.2		34,78,5820	A1A1,A1R,RR		0.6418,2.4247,1.2306				146,11718				SO:0001651	inframe_deletion	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753149_42753151delGAA	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1113_1115delTTC	19.37:g.42753158_42753160delGAA	ENSP00000222329:p.Ser373del					ERF_ENST00000440177.2_In_Frame_Del_p.SS296del|AC006486.9_ENST00000594664.1_Intron	p.SS371del	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1270_1272	-		Prostate(69;0.00682)	371			Poly-Ser.		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	In_Frame_Del	DEL	ENST00000222329.4	37	c.1113_1115delTTC	CCDS12600.1																																																																																				0.680	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		7	940						7	940	---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42838298	42838298	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:42838298delG	ENST00000251268.6	+	3	491	c.491delG	c.(490-492)tggfs	p.W164fs	MEGF8_ENST00000334370.4_Frame_Shift_Del_p.W164fs	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	164	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GAGCCGGGCTGGGGGGGTCCT	0.701																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(490-492)tgfs		multiple EGF-like-domains 8							20.0	23.0	22.0					19																	42838298		1997	4139	6136	SO:0001589	frameshift_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42838298delG	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.491delG	19.37:g.42838298delG	ENSP00000251268:p.Trp164fs					MEGF8_ENST00000251268.6_Frame_Shift_Del_p.W164fs	p.W164fs	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			3	1126	+		Prostate(69;0.00682)	164			EGF-like 1.		A8KAY0|O75097	Frame_Shift_Del	DEL	ENST00000251268.6	37	c.491delG																																																																																					0.701	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		9	349						9	349	---	---	---	---
DMWD	1762	broad.mit.edu	37	19	46289542	46289544	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:46289542_46289544delCTC	ENST00000270223.6	-	3	1255_1257	c.1210_1212delGAG	c.(1210-1212)gagdel	p.E404del	AC011530.4_ENST00000593999.1_5'Flank|DMWD_ENST00000601370.1_5'Flank|DMWD_ENST00000377735.3_In_Frame_Del_p.E404del	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	404										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CAGCCTCGGGCTCCTCCTCCTCC	0.695																																						ENST00000270223.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1210-1212)del		dystrophia myotonica, WD repeat containing																																				SO:0001651	inframe_deletion	1762				meiosis			g.chr19:46289542_46289544delCTC	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"""WD repeat domain containing"""	2936	protein-coding gene	gene with protein product		609857	"""dystrophia myotonica-containing WD repeat motif"""			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.1210_1212delGAG	19.37:g.46289551_46289553delCTC	ENSP00000270223:p.Glu404del					DMWD_ENST00000377735.3_In_Frame_Del_p.E404del	p.E404del	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)	3	1255_1257	-		Ovarian(192;0.0308)|all_neural(266;0.112)	404						In_Frame_Del	DEL	ENST00000270223.6	37	c.1210_1212delGAG	CCDS33054.1																																																																																				0.695	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943		7	614						7	614	---	---	---	---
RSPH6A	81492	broad.mit.edu	37	19	46299165	46299167	+	In_Frame_Del	DEL	CCT	CCT	-	rs62639328|rs557359374	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:46299165_46299167delCCT	ENST00000221538.3	-	6	2256_2258	c.2114_2116delAGG	c.(2113-2118)gagggc>ggc	p.E705del	RSPH6A_ENST00000600188.1_In_Frame_Del_p.E441del|RSPH6A_ENST00000597055.1_3'UTR	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	705	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tcctcctcgccctcctcctcctc	0.586																																						ENST00000221538.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(2113-2118)ggc>g		radial spoke head 6 homolog A (Chlamydomonas)																																				SO:0001651	inframe_deletion	81492					intracellular		g.chr19:46299165_46299167delCCT	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.2114_2116delAGG	19.37:g.46299174_46299176delCCT	ENSP00000221538:p.Glu705del					RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del|RSPH6A_ENST00000597055.1_3'UTR	p.EG705del	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN			6	2256_2258	-			705			Glu-rich.		Q53FE2|Q6PEZ9	In_Frame_Del	DEL	ENST00000221538.3	37	c.2114_2116delAGG	CCDS12675.1																																																																																				0.586	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			19	1163						19	1163	---	---	---	---
HRC	3270	broad.mit.edu	37	19	49656769	49656771	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:49656769_49656771delCCT	ENST00000252825.4	-	1	1910_1912	c.1724_1726delAGG	c.(1723-1728)gagggg>ggg	p.E575del	HRC_ENST00000595625.1_In_Frame_Del_p.E575del	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	575					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		tcctccagcccctcctcctcctc	0.635																																					Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.(1723-1728)ggg>g		histidine rich calcium binding protein																																				SO:0001651	inframe_deletion	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49656769_49656771delCCT		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1724_1726delAGG	19.37:g.49656778_49656780delCCT	ENSP00000252825:p.Glu575del					HRC_ENST00000595625.1_In_Frame_Del_p.EG575del	p.EG575del	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	1910_1912	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	575					Q504Y6	In_Frame_Del	DEL	ENST00000252825.4	37	c.1724_1726delAGG	CCDS12759.1																																																																																				0.635	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		9	206						9	206	---	---	---	---
TSKS	60385	broad.mit.edu	37	19	50249933	50249950	+	In_Frame_Del	DEL	CTGCTTCTCCTCCGGCTC	CTGCTTCTCCTCCGGCTC	-	rs76911687|rs550916960|rs376063874|rs59626794	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:50249933_50249950delCTGCTTCTCCTCCGGCTC	ENST00000246801.3	-	6	851_868	c.769_786delGAGCCGGAGGAGAAGCAG	c.(769-786)gagccggaggagaagcagdel	p.EPEEKQ257del	TSKS_ENST00000358830.3_In_Frame_Del_p.EPEEKQ57del	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	257					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)		cctccggcttctgcttctcctccggctcctgcttctcc	0.72														620	0.123802	0.2625	0.0648	5008	,	,		15404	0.0744		0.0686	False		,,,				2504	0.0859					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.(769-786)del		testis-specific serine kinase substrate				450,3244		108,234,1505						3.7	1.0			13	343,7469		60,223,3623	no	coding	TSKS	NM_021733.1		168,457,5128	A1A1,A1R,RR		4.3907,12.1819,6.8921				793,10713				SO:0001651	inframe_deletion	60385						protein binding	g.chr19:50249933_50249950delCTGCTTCTCCTCCGGCTC	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.769_786delGAGCCGGAGGAGAAGCAG	19.37:g.50249933_50249950delCTGCTTCTCCTCCGGCTC	ENSP00000246801:p.Glu257_Gln262del					TSKS_ENST00000358830.3_In_Frame_Del_p.EPEEKQ57del	p.EPEEKQ257del	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	6	851_868	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	257					Q8WXJ0	In_Frame_Del	DEL	ENST00000246801.3	37	c.769_786delGAGCCGGAGGAGAAGCAG	CCDS12780.1																																																																																				0.720	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		28	174						28	174	---	---	---	---
ZNF337	26152	broad.mit.edu	37	20	25657231	25657232	+	Frame_Shift_Del	DEL	TG	TG	-	rs200386201		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr20:25657231_25657232delTG	ENST00000376436.1	-	4	1231_1232	c.692_693delCA	c.(691-693)acafs	p.T231fs	ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|RP4-694B14.5_ENST00000421829.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|ZNF337_ENST00000481610.1_5'Flank			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTTCTCTCCTGTGTGTGTGTT	0.51																																						ENST00000376436.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(691-693)afs		zinc finger protein 337																																				SO:0001589	frameshift_variant	26152							g.chr20:25657231_25657232delTG		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.692_693delCA	20.37:g.25657239_25657240delTG	ENSP00000365619:p.Thr231fs					ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA	p.T231fs							4	1231_1232	-								B4DSM2|Q9Y3Y5	Frame_Shift_Del	DEL	ENST00000376436.1	37	c.692_693delCA	CCDS13174.1																																																																																				0.510	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			9	541						9	541	---	---	---	---
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	lincRNA	DEL	A	A	-	rs375245697		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363																																						ENST00000416563.1																			0																																																			0							g.chr20:26113543delA																													20.37:g.26113543delA														0	250	-									RNA	DEL	ENST00000416563.1	37																																																																																						0.363	RP13-329D4.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000078482.1			7	30						7	30	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29625899	29625900	+	Frame_Shift_Ins	INS	-	-	AT	rs201509828		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr20:29625899_29625900insAT	ENST00000278882.3	+	5	523_524	c.143_144insAT	c.(142-147)aaatatfs	p.KY48fs	FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.KY53fs|FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.KY48fs			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	48										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTATGGAAAATATCTTGGTA	0.342																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(142-144)atafs																																						SO:0001589	frameshift_variant	0							g.chr20:29625899_29625900insAT			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.146_147dupAT	20.37:g.29625902_29625903dupAT	ENSP00000278882:p.Lys48fs					FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs	p.I48fs							5	523_524	+								C4AME5	Frame_Shift_Ins	INS	ENST00000278882.3	37	c.143_144insAT																																																																																					0.342	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		14	571						14	571	---	---	---	---
NCOA6	23054	broad.mit.edu	37	20	33330968	33330970	+	In_Frame_Del	DEL	TGC	TGC	-	rs140426729	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr20:33330968_33330970delTGC	ENST00000374796.2	-	12	5660_5662	c.3090_3092delGCA	c.(3088-3093)cagcaa>caa	p.1030_1031QQ>Q	NCOA6_ENST00000359003.2_In_Frame_Del_p.1030_1031QQ>Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1030	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CATCATTtgttgctgctgctgct	0.576																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(3088-3093)caa>ca		nuclear receptor coactivator 6																																				SO:0001651	inframe_deletion	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33330968_33330970delTGC	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.3090_3092delGCA	20.37:g.33330977_33330979delTGC	ENSP00000363929:p.Gln1032del					NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ1030del	p.QQ1030del			Q14686	NCOA6_HUMAN			12	5660_5662	-			1030			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	In_Frame_Del	DEL	ENST00000374796.2	37	c.3090_3092delGCA	CCDS13241.1																																																																																				0.576	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		10	752						10	752	---	---	---	---
SNX21	90203	broad.mit.edu	37	20	44469908	44469908	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr20:44469908delC	ENST00000491381.1	+	4	1146	c.1078delC	c.(1078-1080)cccfs	p.P361fs	SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Intron|SNX21_ENST00000372542.1_Frame_Shift_Del_p.P352fs			Q969T3	SNX21_HUMAN	sorting nexin family member 21	361					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				CCCCACACCACCCCCCAGTCT	0.617																																						ENST00000372542.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(1051-1053)ccfs		sorting nexin family member 21							62.0	70.0	67.0					20																	44469908		2203	4300	6503	SO:0001589	frameshift_variant	90203				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr20:44469908delC	AK095851	CCDS13376.1, CCDS13377.1, CCDS42883.1	20q13.12	2013-01-10	2006-07-24	2006-07-24	ENSG00000124104	ENSG00000124104		"""Sorting nexins"", ""Tetratricopeptide (TTC) repeat domain containing"""	16154	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 161"""	C20orf161		12461558, 12459172	Standard	NM_152897		Approved	dJ337O18.4, SNX-L	uc002xpv.1	Q969T3	OTTHUMG00000032624	ENST00000491381.1:c.1078delC	20.37:g.44469908delC	ENSP00000418593:p.Pro361fs					SNX21_ENST00000491381.1_Frame_Shift_Del_p.P361fs|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Intron	p.P352fs			Q969T3	SNX21_HUMAN			3	1363	+		Myeloproliferative disorder(115;0.0122)	361					Q5JZH5|Q5JZH6|Q5JZH7|Q8WUR6|Q9BR16	Frame_Shift_Del	DEL	ENST00000491381.1	37	c.1051delC	CCDS13377.1																																																																																				0.617	SNX21-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079534.1	NM_033421		8	1301						8	1301	---	---	---	---
SALL4	57167	broad.mit.edu	37	20	50408526	50408526	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr20:50408526delG	ENST00000217086.4	-	2	607	c.496delC	c.(496-498)cagfs	p.Q166fs	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Frame_Shift_Del_p.Q166fs|SALL4_ENST00000483130.1_5'UTR	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	166					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTTATGTCCTGGGGGGTGGGT	0.577																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	GRCh37	CM042108	SALL4	M		c.(496-498)agfs		spalt-like transcription factor 4							133.0	137.0	135.0					20																	50408526		2203	4300	6503	SO:0001589	frameshift_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50408526delG	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.496delC	20.37:g.50408526delG	ENSP00000217086:p.Gln166fs					SALL4_ENST00000483130.1_5'UTR|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Frame_Shift_Del_p.Q166fs	p.Q166fs	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			2	607	-			166					A2A2D8|Q540H3|Q6Y8G6	Frame_Shift_Del	DEL	ENST00000217086.4	37	c.496delC	CCDS13438.1																																																																																				0.577	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			7	1961						7	1961	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57766219	57766220	+	Frame_Shift_Ins	INS	-	-	C	rs570895195		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr20:57766219_57766220insC	ENST00000371030.2	+	1	145_146	c.145_146insC	c.(145-147)gccfs	p.A49fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	49	Pro-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.T52fs*47(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCAGGGCCTGGCCCCCCCCACT	0.728																																						ENST00000371030.2																			1	Insertion - Frameshift(1)	p.T52fs*47(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(145-147)cccfs		zinc finger protein 831				44,3536		1,42,1747						2.3	0.9			18	50,7732		0,50,3841	no	frameshift	ZNF831	NM_178457.1		1,92,5588	A1A1,A1R,RR		0.6425,1.2291,0.8273				94,11268				SO:0001589	frameshift_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57766219_57766220insC	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.153dupC	20.37:g.57766227_57766227dupC	ENSP00000360069:p.Ala49fs						p.P49fs	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	145_146	+	all_lung(29;0.0085)		49			Pro-rich.		Q5TDR4|Q8TCP0	Frame_Shift_Ins	INS	ENST00000371030.2	37	c.145_146insC	CCDS42894.1																																																																																				0.728	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		8	320						8	320	---	---	---	---
IFNGR2	3460	broad.mit.edu	37	21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-	rs375419913		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr21:34799292delT	ENST00000290219.6	+	4	1162	c.514delT	c.(514-516)tttfs	p.F173fs	IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs|IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	173	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458																																						ENST00000290219.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(514-516)ttfs		interferon gamma receptor 2 (interferon gamma transducer 1)	Interferon gamma-1b(DB00033)						226.0	232.0	230.0					21																	34799292		2203	4300	6503	SO:0001589	frameshift_variant	3460				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	g.chr21:34799292delT		CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"""Interferons"", ""Fibronectin type III domain containing"""	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.514delT	21.37:g.34799292delT	ENSP00000290219:p.Phe173fs					IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs	p.F173fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN			4	1162	+			173			Fibronectin type-III 2.		Q9BTL5	Frame_Shift_Del	DEL	ENST00000290219.6	37	c.514delT	CCDS33544.1																																																																																				0.458	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1			12	1724						12	1724	---	---	---	---
MED15	51586	broad.mit.edu	37	22	20918817	20918819	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr22:20918817_20918819delCAG	ENST00000263205.7	+	6	601_603	c.532_534delCAG	c.(532-534)cagdel	p.Q188del	MED15_ENST00000541476.1_In_Frame_Del_p.Q162del|MED15_ENST00000406969.1_In_Frame_Del_p.Q162del|MED15_ENST00000425759.2_In_Frame_Del_p.Q77del|MED15_ENST00000292733.7_In_Frame_Del_p.Q188del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000382974.2_In_Frame_Del_p.Q117del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	188	Poly-Gln.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			ggcggcgctacagcagcagcagc	0.626											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(532-534)del		mediator complex subunit 15																																				SO:0001651	inframe_deletion	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20918817_20918819delCAG	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.532_534delCAG	22.37:g.20918826_20918828delCAG	ENSP00000263205:p.Gln188del		OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	744	MED15_ENST00000292733.7_In_Frame_Del_p.Q188del|MED15_ENST00000406969.1_In_Frame_Del_p.Q162del|MED15_ENST00000382974.2_In_Frame_Del_p.Q117del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000541476.1_In_Frame_Del_p.Q162del|MED15_ENST00000425759.2_In_Frame_Del_p.Q77del	p.Q188del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		6	601_603	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	188			Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	ENST00000263205.7	37	c.532_534delCAG	CCDS33602.1																																																																																				0.626	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		10	205						10	205	---	---	---	---
DRICH1	51233	broad.mit.edu	37	22	23959767	23959769	+	In_Frame_Del	DEL	CAT	CAT	-	rs199862187|rs567906771	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr22:23959767_23959769delCAT	ENST00000317749.5	-	7	809_811	c.512_514delATG	c.(511-516)gatgcc>gcc	p.D171del		NM_016449.3	NP_057533.2	Q6PGQ1	DRIC1_HUMAN		171	Asp-rich.									endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						CTTACCTGGGcatcatcatcatc	0.433														4	0.000798722	0.0	0.0029	5008	,	,		25110	0.001		0.0	False		,,,				2504	0.001					ENST00000317749.5																			0				endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						c.(511-516)gcc>g		chromosome 22 open reading frame 43				38,3770		2,34,1868						-0.9	0.0			110	95,7919		9,77,3921	no	coding	C22orf43	NM_016449.3		11,111,5789	A1A1,A1R,RR		1.1854,0.9979,1.125				133,11689				SO:0001651	inframe_deletion	51233							g.chr22:23959767_23959769delCAT																												ENST00000317749.5:c.512_514delATG	22.37:g.23959776_23959778delCAT	ENSP00000316137:p.Asp171del						p.DA171del	NM_016449.3	NP_057533.2	Q6PGQ1	CV043_HUMAN			7	809_811	-			171			Asp-rich.		Q6ICJ8|Q6P4I3|Q9NU31	In_Frame_Del	DEL	ENST00000317749.5	37	c.512_514delATG	CCDS42985.1																																																																																				0.433	C22orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319708.2			10	452						10	452	---	---	---	---
HMGXB4	10042	broad.mit.edu	37	22	35661544	35661544	+	Frame_Shift_Del	DEL	A	A	-	rs76572304		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr22:35661544delA	ENST00000216106.5	+	5	1291	c.1163delA	c.(1162-1164)gaafs	p.E388fs	HMGXB4_ENST00000444518.2_Frame_Shift_Del_p.E279fs	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	388					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGCATAGTGAaaaaaaaaag	0.493																																						ENST00000216106.5																			0				breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1162-1164)gafs		HMG box domain containing 4																																				SO:0001589	frameshift_variant	10042				endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	g.chr22:35661544delA	AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.1163delA	22.37:g.35661544delA	ENSP00000216106:p.Glu388fs					HMGXB4_ENST00000444518.2_Frame_Shift_Del_p.E279fs	p.E388fs	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN			5	1291	+			388					O75672|O75673|Q9UMT5	Frame_Shift_Del	DEL	ENST00000216106.5	37	c.1163delA	CCDS33641.1																																																																																				0.493	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487		15	276						15	276	---	---	---	---
PHF8	23133	broad.mit.edu	37	X	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chrX:54011405_54011407delCTC	ENST00000357988.5	-	18	2849_2851	c.2491_2493delGAG	c.(2491-2493)gagdel	p.E831del	PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000338154.6_In_Frame_Del_p.E795del	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(2383-2385)del		PHD finger protein 8																																				SO:0001651	inframe_deletion	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54011405_54011407delCTC	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2491_2493delGAG	X.37:g.54011414_54011416delCTC	ENSP00000350676:p.Glu831del					PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del	p.E795del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			18	2887_2889	-			831			Ser-rich.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	In_Frame_Del	DEL	ENST00000357988.5	37	c.2383_2385delGAG	CCDS55420.1																																																																																				0.591	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		7	387						7	387	---	---	---	---
NAP1L2	4674	broad.mit.edu	37	X	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-	rs369450592		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.E79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424														95	0.0251656	0.0272	0.0173	3775	,	,		14422	0.0069		0.0089	False		,,,				2504	0.0317					ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(661-666)gac>ga		nucleosome assembly protein 1-like 2																																				SO:0001651	inframe_deletion	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433664_72433666delTCC	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.663_665delGGA	X.37:g.72433673_72433675delTCC	ENSP00000362616:p.Glu221del					NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	p.ED221del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	1018_1020	-	Renal(35;0.156)		221			Glu-rich (acidic).		B2RE61|B4E161|Q8TAN6	In_Frame_Del	DEL	ENST00000373517.3	37	c.663_665delGGA	CCDS14423.1																																																																																				0.424	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		11	161						11	161	---	---	---	---
MAMLD1	10046	broad.mit.edu	37	X	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chrX:149639633_149639635delGCA	ENST00000370401.2	+	4	2098_2100	c.1788_1790delGCA	c.(1786-1791)ctgcag>ctg	p.Q606del	MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q606del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.Q87del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q581del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	606	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1786-1791)ctg>ct		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639633_149639635delGCA	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1788_1790delGCA	X.37:g.149639642_149639644delGCA	ENSP00000359428:p.Gln606del					MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del	p.LQ596del			Q13495	MAMD1_HUMAN			4	2098_2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		596			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1788_1790delGCA	CCDS14693.2																																																																																				0.611	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		10	428						10	428	---	---	---	---
F8	2157	broad.mit.edu	37	X	154157686	154157686	+	Frame_Shift_Del	DEL	T	T	-	rs387906455		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chrX:154157686delT	ENST00000360256.4	-	14	4579	c.4379delA	c.(4378-4380)aatfs	p.N1461fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1461	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.N1460fs*5(2)|p.N1460fs*2(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGAAAGGTTATTTTTTTTGGC	0.413																																						ENST00000360256.4																			4	Deletion - Frameshift(2)|Insertion - Frameshift(2)	p.N1460fs*5(2)|p.N1460fs*2(2)	haematopoietic_and_lymphoid_tissue(2)|breast(2)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CD910498	F8	D		c.(4378-4380)atfs		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						86.0	84.0	85.0					X																	154157686		2203	4300	6503	SO:0001589	frameshift_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157686delT	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4379delA	X.37:g.154157686delT	ENSP00000353393:p.Asn1461fs						p.N1461fs	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	4579	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1461			B.		Q14286|Q5HY69	Frame_Shift_Del	DEL	ENST00000360256.4	37	c.4379delA	CCDS35457.1																																																																																				0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			9	355						9	355	---	---	---	---
SLC9B1P1	100128190	broad.mit.edu	37	Y	13501672	13501674	+	In_Frame_Del	DEL	AAT	AAT	-	rs373544976		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chrY:13501672_13501674delAAT	ENST00000331172.6	-	4	534_536	c.535_537delATT	c.(535-537)attdel	p.I179del				A6NJY1	SL9P1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 pseudogene 1	164						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TCTTACCAACAATATTTGATTCA	0.241																																						ENST00000331172.6																			0											c.(535-537)del																																						SO:0001651	inframe_deletion	0							g.chrY:13501672_13501674delAAT			Yq11.21	2013-07-15	2012-03-22	2011-07-26	ENSG00000183704	ENSG00000183704		"""Solute carriers"""	37492	pseudogene	pseudogene			"""Na+/H+ exchanger domain containing 1 pseudogene 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 pseudogene 1"""	NHEDC1P1			Standard	NG_023008		Approved			A6NJY1		ENST00000331172.6:c.535_537delATT	Y.37:g.13501672_13501674delAAT	ENSP00000331938:p.Ile179del						p.I179del							4	534_536	-									In_Frame_Del	DEL	ENST00000331172.6	37	c.535_537delATT																																																																																					0.241	SLC9B1P1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NG_023008		8	20						8	20	---	---	---	---
LOC100288069	100288069	broad.mit.edu	37	1	700532	700532	+	lincRNA	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:700532delT	ENST00000428504.1	-	0	1021				RP11-206L10.5_ENST00000417659.1_lincRNA	NR_033908.1																						aaaaaaaaaaTTCCTTTGGGA	0.453																																						ENST00000428504.1																			0																																																			0							g.chr1:700532delT																													1.37:g.700532delT								NR_033908.1						0	1021	-									RNA	DEL	ENST00000428504.1	37																																																																																						0.453	RP11-206L10.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000006889.1			7	41						7	41	---	---	---	---
LZIC	84328	broad.mit.edu	37	1	9990460	9990460	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:9990460delT	ENST00000377223.1	-	8	817	c.570delA	c.(568-570)aaafs	p.K190fs	LZIC_ENST00000400903.2_Frame_Shift_Del_p.K190fs|LZIC_ENST00000541052.1_Frame_Shift_Del_p.K211fs|LZIC_ENST00000377213.1_Frame_Shift_Del_p.K190fs	NM_032368.3	NP_115744.2	Q8WZA0	LZIC_HUMAN	leucine zipper and CTNNBIP1 domain containing	190					response to ionizing radiation (GO:0010212)					breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.29e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;0.000242)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.00842)|READ - Rectum adenocarcinoma(331;0.0419)		CACCATGTCATTTTTTTGTTT	0.333																																						ENST00000377223.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7						c.(568-570)aafs		leucine zipper and CTNNBIP1 domain containing							203.0	216.0	211.0					1																	9990460		2203	4300	6503	SO:0001589	frameshift_variant	84328						beta-catenin binding	g.chr1:9990460delT	AB060688	CCDS107.1	1p36.22	2008-02-05			ENSG00000162441	ENSG00000162441			17497	protein-coding gene	gene with protein product		610458				11712074	Standard	NM_032368		Approved	MGC15436	uc001aqm.3	Q8WZA0	OTTHUMG00000001804	ENST00000377223.1:c.570delA	1.37:g.9990460delT	ENSP00000366430:p.Lys190fs					LZIC_ENST00000541052.1_Frame_Shift_Del_p.K211fs|LZIC_ENST00000377213.1_Frame_Shift_Del_p.K190fs|LZIC_ENST00000400903.2_Frame_Shift_Del_p.K190fs	p.K190fs			Q8WZA0	LZIC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.29e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;0.000242)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.00842)|READ - Rectum adenocarcinoma(331;0.0419)	8	817	-		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	190					B2R6F0|B4E2N0|Q96IU1	Frame_Shift_Del	DEL	ENST00000377223.1	37	c.570delA	CCDS107.1																																																																																				0.333	LZIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005037.1	NM_032368		7	1986						7	1986	---	---	---	---
CROCCP2	84809	broad.mit.edu	37	1	16953827	16953828	+	lincRNA	INS	-	-	C	rs57007114|rs397767732		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:16953827_16953828insC	ENST00000412962.1	-	0	477							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TCACTTTCCTGCCCGAACCTCC	0.609																																						ENST00000412962.1																			0																																																			0							g.chr1:16953827_16953828insC	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.16953830_16953830dupC														0	477	-								Q8NF65|Q96FR5|Q9BRE8	RNA	INS	ENST00000412962.1	37																																																																																						0.609	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		12	287						12	287	---	---	---	---
AKR7L	246181	broad.mit.edu	37	1	19600479	19600501	+	RNA	DEL	TGCGGCGCTGGTGGGCGCGTCCA	TGCGGCGCTGGTGGGCGCGTCCA	-	rs573930529	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:19600479_19600501delTGCGGCGCTGGTGGGCGCGTCCA	ENST00000429712.1	-	0	187_209				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CGCGCGTGACTGCGGCGCTGGTGGGCGCGTCCATGCGGCGCCC	0.722														155	0.0309505	0.0	0.0202	5008	,	,		16736	0.0476		0.0288	False		,,,				2504	0.0654					ENST00000420396.2																			0				breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6								aldo-keto reductase family 7-like				8,4132		1,6,2063						1.0	0.0			23	91,7993		9,73,3960	no	intergenic				10,79,6023	A1A1,A1R,RR		1.1257,0.1932,0.8099				99,12125						246181							g.chr1:19600479_19600501delTGCGGCGCTGGTGGGCGCGTCCA			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19600479_19600501delTGCGGCGCTGGTGGGCGCGTCCA						AKR7L_ENST00000429712.1_RNA								0	67_89	-								Q5U614	RNA	DEL	ENST00000429712.1	37																																																																																						0.722	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		9	42						9	42	---	---	---	---
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Intron	DEL	TG	TG	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:32670247_32670248delTG	ENST00000373602.5	+	5	895				RP4-622L5.7_ENST00000421616.1_RNA|RP4-622L5.7_ENST00000373604.4_RNA|IQCC_ENST00000537469.1_5'Flank|IQCC_ENST00000291358.6_5'Flank|CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000421922.2_Frame_Shift_Del_p.C192fs	NM_024296.3	NP_077272.2	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B						cilium assembly (GO:0042384)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.5																																						ENST00000421922.2																			0				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(574-576)tfs		coiled-coil domain containing 28B																																				SO:0001627	intron_variant	79140							g.chr1:32670247_32670248delTG	BC022848	CCDS354.2, CCDS72749.1	1p36.11-p34.2	2008-02-05			ENSG00000160050	ENSG00000160050			28163	protein-coding gene	gene with protein product		610162				16327777	Standard	XM_006710892		Approved	MGC1203, RP4-622L5.5	uc001bul.1	Q9BUN5	OTTHUMG00000005738	ENST00000373602.5:c.548+26TG>-	1.37:g.32670255_32670256delTG						CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron	p.C192fs			Q9BUN5	CC28B_HUMAN			5	674_675	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	0					A8K789|Q8TBV8	Frame_Shift_Del	DEL	ENST00000373602.5	37	c.574_575delTG	CCDS354.2																																																																																				0.500	CCDC28B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015723.4	NM_024296		11	1200						11	1200	---	---	---	---
RSPO1	284654	broad.mit.edu	37	1	38078467	38078469	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:38078467_38078469delTGC	ENST00000401069.1	-	7	1462_1464	c.750_752delGCA	c.(748-753)cagcaa>caa	p.250_251QQ>Q	RSPO1_ENST00000373059.1_In_Frame_Del_p.223_224QQ>Q|RSPO1_ENST00000401071.2_In_Frame_Del_p.187_188QQ>Q|RSPO1_ENST00000356545.2_In_Frame_Del_p.250_251QQ>Q|RSPO1_ENST00000401068.1_In_Frame_Del_p.250_251QQ>Q|RSPO1_ENST00000401070.1_In_Frame_Del_p.187_188QQ>Q	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	250					canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACTGTCCCTTGCTGCTGCTGCT	0.621																																					GBM(122;680 2230 27822 42821)	ENST00000356545.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12						c.(748-753)caa>ca		R-spondin 1			,,,	31,74,4091		12,0,7,2,70,2007					,,,	2.3	1.0			96	37,0,8137		16,0,5,0,0,4066	no	codingComplex,codingComplex,codingComplex,codingComplex	RSPO1	NM_001242910.1,NM_001242909.1,NM_001242908.1,NM_001038633.3	,,,	28,0,12,2,70,6073	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4527,2.5024,1.1479	,,,	,,,		68,74,12228				SO:0001651	inframe_deletion	284654				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	g.chr1:38078467_38078469delTGC	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"""Endogenous ligands"""	21679	protein-coding gene	gene with protein product		609595	"""R-spondin homolog (Xenopus laevis)"""				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.750_752delGCA	1.37:g.38078476_38078478delTGC	ENSP00000383847:p.Gln251del					RSPO1_ENST00000401071.2_In_Frame_Del_p.QQ187del|RSPO1_ENST00000401068.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000373059.1_In_Frame_Del_p.QQ223del|RSPO1_ENST00000401069.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401070.1_In_Frame_Del_p.QQ187del	p.QQ250del	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN			8	1537_1539	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	250					A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	In_Frame_Del	DEL	ENST00000401069.1	37	c.750_752delGCA	CCDS41304.1																																																																																				0.621	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640		7	948						7	948	---	---	---	---
CYP4Z2P	163720	broad.mit.edu	37	1	47325282	47325282	+	RNA	DEL	A	A	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:47325282delA	ENST00000505841.1	-	0	1204					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										ATTTCAATCCAAACATAGCTG	0.393																																						ENST00000505841.1																			0																																																			0							g.chr1:47325282delA	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47325282delA								NR_002788.2						0	1204	-								Q66ZJ5	RNA	DEL	ENST00000505841.1	37																																																																																						0.393	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		8	223						8	223	---	---	---	---
BCL10	8915	broad.mit.edu	37	1	85736511	85736511	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:85736511delT	ENST00000370580.1	-	2	873	c.136delA	c.(136-138)atafs	p.I46fs		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	46	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.I46fs*4(1)		haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		CTACTGAGTATTTTTTTTGCA	0.343			T	IGH@	MALT																																NSCLC(34;993 1034 12176 32621 50182)	ENST00000370580.1				Dom	yes		1	1p22	8915	T	B-cell CLL/lymphoma 10			L	IGH@		MALT		1	Insertion - Frameshift(1)	p.I46fs*4(1)	ovary(1)	haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19						c.(136-138)tafs		B-cell CLL/lymphoma 10							83.0	90.0	87.0					1																	85736511		2203	4300	6503	SO:0001589	frameshift_variant	8915				apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr1:85736511delT	AJ006288	CCDS704.1	1p22	2008-07-18			ENSG00000142867	ENSG00000142867			989	protein-coding gene	gene with protein product	"""CARD-like apoptotic protein"", ""CARD-containing apoptotic signaling protein"", ""CARD containing molecule enhancing NF-kB"", ""caspase-recruiting domain-containing protein"", ""CARD-containing proapoptotic protein"""	603517				9989495	Standard	NM_003921		Approved	CARMEN, CIPER, mE10, c-E10, CLAP	uc021opd.1	O95999	OTTHUMG00000009965	ENST00000370580.1:c.136delA	1.37:g.85736511delT	ENSP00000359612:p.Ile46fs						p.I46fs	NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN		all cancers(265;0.0114)|Epithelial(280;0.0311)	2	873	-			46			CARD.		Q5VUF1	Frame_Shift_Del	DEL	ENST00000370580.1	37	c.136delA	CCDS704.1																																																																																				0.343	BCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027612.1	NM_003921		7	556						7	556	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103355065	103355065	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:103355065delT	ENST00000370096.3	-	59	4722	c.4410delA	c.(4408-4410)aaafs	p.K1470fs	COL11A1_ENST00000358392.2_Frame_Shift_Del_p.K1482fs|COL11A1_ENST00000512756.1_Frame_Shift_Del_p.K1354fs|COL11A1_ENST00000353414.4_Frame_Shift_Del_p.K1431fs	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1470	Collagen-like 7.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTCGGTCACCTTTTTCCCCTT	0.408																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(4444-4446)aafs		collagen, type XI, alpha 1							75.0	72.0	73.0					1																	103355065		2203	4300	6503	SO:0001589	frameshift_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103355065delT	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4410delA	1.37:g.103355065delT	ENSP00000359114:p.Lys1470fs					COL11A1_ENST00000353414.4_Frame_Shift_Del_p.K1431fs|COL11A1_ENST00000512756.1_Frame_Shift_Del_p.K1354fs|COL11A1_ENST00000370096.3_Frame_Shift_Del_p.K1470fs	p.K1482fs	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	59	4763	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1470			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Frame_Shift_Del	DEL	ENST00000370096.3	37	c.4446delA	CCDS778.1																																																																																				0.408	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		7	501						7	501	---	---	---	---
EPS8L3	79574	broad.mit.edu	37	1	110300579	110300580	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:110300579_110300580insT	ENST00000361965.4	-	9	924_925	c.818_819insA	c.(817-819)aacfs	p.N273fs	EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.N273fs|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000369805.3_Frame_Shift_Ins_p.N274fs|EPS8L3_ENST00000494151.1_5'Flank	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	273						cytoplasm (GO:0005737)		p.N274fs*33(2)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CCTGGTCCTTGTTTTTTTTCCC	0.545																																						ENST00000369805.3																			2	Deletion - Frameshift(2)	p.N274fs*33(2)	ovary(1)|large_intestine(1)	breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32						c.(820-822)aaafs		EPS8-like 3			,,	1,4261		0,1,2130					,,	-3.4	0.0			208	4,8246		0,4,4121	no	frameshift,frameshift,frameshift	EPS8L3	NM_139053.2,NM_133181.3,NM_024526.3	,,	0,5,6251	A1A1,A1R,RR		0.0485,0.0235,0.04	,,	,,		5,12507				SO:0001589	frameshift_variant	79574					cytoplasm	protein binding	g.chr1:110300579_110300580insT	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.819dupA	1.37:g.110300587_110300587dupT	ENSP00000355255:p.Asn273fs					RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.K273fs|EPS8L3_ENST00000361965.4_Frame_Shift_Ins_p.K273fs	p.K274fs	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	9	1050_1051	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	273					A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Frame_Shift_Ins	INS	ENST00000361965.4	37	c.821_822insA	CCDS814.1																																																																																				0.545	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		8	745						8	745	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137698	121137699	+	lincRNA	INS	-	-	TT	rs57730437|rs371916849		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:121137698_121137699insTT	ENST00000417218.1	+	0	0				RP11-343N15.1_ENST00000437515.1_lincRNA																							CTACTTACATCTTTTTGTCTTT	0.441																																						ENST00000437515.1																			0																																																			0							g.chr1:121137698_121137699insTT																													1.37:g.121137701_121137702dupTT														0	329	-									RNA	INS	ENST00000417218.1	37																																																																																						0.441	AL592494.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000036739.1			13	129						13	129	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137791	121137793	+	lincRNA	DEL	CCA	CCA	-	rs28552466|rs61625886|rs374710813	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:121137791_121137793delCCA	ENST00000417218.1	+	0	0				RP11-343N15.1_ENST00000437515.1_lincRNA																							ATTTCGCCCTCCACCGCCGCCGC	0.631																																						ENST00000437515.1																			0																																																			0							g.chr1:121137791_121137793delCCA																													1.37:g.121137791_121137793delCCA														0	329	-									RNA	DEL	ENST00000417218.1	37																																																																																						0.631	AL592494.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000036739.1			16	55						16	55	---	---	---	---
LOC101927209	101927209	broad.mit.edu	37	1	142713977	142713977	+	lincRNA	DEL	T	T	-	rs140223576		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:142713977delT	ENST00000610091.1	-	0	1681																											ATCCATATACTAAAAAGGTTA	0.294																																						ENST00000369381.2																			0																																																			0							g.chr1:142713977delT																													1.37:g.142713977delT														0	628	-									RNA	DEL	ENST00000610091.1	37																																																																																						0.294	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			15	40						15	40	---	---	---	---
LOC101927209	101927209	broad.mit.edu	37	1	142720897	142720898	+	lincRNA	INS	-	-	A	rs112730110|rs374883772	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:142720897_142720898insA	ENST00000610091.1	-	0	204_205																											GCTCTTCCTCTAAGCCACTGGT	0.277													|||unknown(NO_COVERAGE)	2342	0.467652	0.2436	0.7118	5008	,	,		10169	0.4038		0.666	False		,,,				2504	0.4591					ENST00000595144.1																			0																																																			0							g.chr1:142720897_142720898insA																													1.37:g.142720899_142720899dupA														0	204_205	-									RNA	INS	ENST00000610091.1	37																																																																																						0.277	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			17	176						17	176	---	---	---	---
RP11-782C8.2	0	broad.mit.edu	37	1	143210193	143210194	+	lincRNA	INS	-	-	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:143210193_143210194insT	ENST00000412204.2	-	0	876_877				RP11-782C8.1_ENST00000438000.1_lincRNA																							GGCAGCATTTGTTTTTTTAACA	0.317																																						ENST00000412204.2																			0																																																			0							g.chr1:143210193_143210194insT																													1.37:g.143210200_143210200dupT						RP11-782C8.1_ENST00000438000.1_lincRNA								0	876_877	-									RNA	INS	ENST00000412204.2	37																																																																																						0.317	RP11-782C8.2-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037567.2			8	262						8	262	---	---	---	---
RP11-782C8.2	0	broad.mit.edu	37	1	143210446	143210446	+	lincRNA	DEL	T	T	-	rs530198275|rs376698056	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:143210446delT	ENST00000412204.2	-	0	624				RP11-782C8.1_ENST00000438000.1_lincRNA																							GTCCATATACTAAAAAGGTTA	0.284																																						ENST00000412204.2																			0																																																			0							g.chr1:143210446delT																													1.37:g.143210446delT						RP11-782C8.1_ENST00000438000.1_lincRNA								0	624	-									RNA	DEL	ENST00000412204.2	37																																																																																						0.284	RP11-782C8.2-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037567.2			12	74						12	74	---	---	---	---
RP6-206I17.1	0	broad.mit.edu	37	1	143743290	143743291	+	lincRNA	INS	-	-	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:143743290_143743291insA	ENST00000445753.1	-	0	210																											CTGAGTATCTGAATCTGAAACA	0.475																																						ENST00000445753.1																			0																																																			0							g.chr1:143743290_143743291insA																													1.37:g.143743292_143743292dupA														0	210	-									RNA	INS	ENST00000445753.1	37																																																																																						0.475	RP6-206I17.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037956.1			8	514						8	514	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145109312	145109313	+	RNA	INS	-	-	A	rs9424678|rs11370361|rs142440425		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:145109312_145109313insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											aaaccaaaaacaaaAAAAAAAG	0.416																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109312_145109313insA	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109322_145109322dupA										O75396	SC22B_HUMAN			0	512	+								A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.416	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		7	30						7	30	---	---	---	---
POLR3GL	84265	broad.mit.edu	37	1	145457040	145457042	+	In_Frame_Del	DEL	TCT	TCT	-	rs587765256		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:145457040_145457042delTCT	ENST00000369314.1	-	7	625_627	c.519_521delAGA	c.(517-522)gaagag>gag	p.173_174EE>E	POLR3GL_ENST00000369313.3_In_Frame_Del_p.150_151EE>E	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like	173	Glu-rich.				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)|transcription initiation from RNA polymerase III promoter (GO:0006384)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ctcttccttctcttcttcttctt	0.448																																						ENST00000369314.1																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(517-522)gag>ga		polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like																																				SO:0001651	inframe_deletion	84265							g.chr1:145457040_145457042delTCT	BC004355	CCDS72875.1	1q21.1	2008-02-05	2006-12-14		ENSG00000121851	ENSG00000121851			28466	protein-coding gene	gene with protein product			"""polymerase (RNA) III (DNA directed) polypeptide G (32kD) like"""			12477932	Standard	NM_032305		Approved	flj32422, MGC3200	uc001enp.1	Q9BT43	OTTHUMG00000013739	ENST00000369314.1:c.519_521delAGA	1.37:g.145457049_145457051delTCT	ENSP00000358320:p.Glu174del					POLR3GL_ENST00000369313.3_In_Frame_Del_p.EE150del	p.EE173del	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN			7	625_627	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		173			Glu-rich.		B1MVG5	In_Frame_Del	DEL	ENST00000369314.1	37	c.519_521delAGA	CCDS914.1																																																																																				0.448	POLR3GL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038510.1	NM_032305		8	215						8	215	---	---	---	---
LINGO4	339398	broad.mit.edu	37	1	151773603	151773603	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:151773603delA	ENST00000368820.3	-	2	2515	c.1578delT	c.(1576-1578)tttfs	p.F526fs	RP11-98D18.17_ENST00000601909.1_lincRNA	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	526						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGCTATCCAGAAAAAAAGGCC	0.582																																						ENST00000368820.3																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1576-1578)ttfs		leucine rich repeat and Ig domain containing 4							131.0	137.0	135.0					1																	151773603		2203	4300	6503	SO:0001589	frameshift_variant	339398					integral to membrane		g.chr1:151773603delA		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.1578delT	1.37:g.151773603delA	ENSP00000357810:p.Phe526fs						p.F526fs	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	2515	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		526						Frame_Shift_Del	DEL	ENST00000368820.3	37	c.1578delT	CCDS30855.1																																																																																				0.582	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		7	1622						7	1622	---	---	---	---
TCHH	7062	broad.mit.edu	37	1	152084561	152084562	+	In_Frame_Ins	INS	-	-	CTC			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:152084561_152084562insCTC	ENST00000368804.1	-	2	1130_1131	c.1131_1132insGAG	c.(1129-1134)ctgagg>ctgGAGagg	p.377_378LR>LER		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	377	5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.|8 X 6 AA tandem repeats of R-R-E-Q-Q-L.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tgctcgcgcctcagctgctgct	0.718																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(1129-1134)ctggcg>ctGAGggcg		trichohyalin				38,2350		7,24,1163						-0.4	0.0			6	41,5537		5,31,2753	no	coding	TCHH	NM_007113.2		12,55,3916	A1A1,A1R,RR		0.735,1.5913,0.9917				79,7887				SO:0001652	inframe_insertion	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152084561_152084562insCTC	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1131_1132insGAG	1.37:g.152084561_152084562insCTC	ENSP00000357794:p.Leu377_Arg378insGlu						p.377_378LA>LRA	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1130_1131	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		377			5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.		Q5VUI3	In_Frame_Ins	INS	ENST00000368804.1	37	c.1131_1132insGAG	CCDS41396.1																																																																																				0.718	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		15	208						15	208	---	---	---	---
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)gaadel	p.E40del	HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000532105.1_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria. {ECO:0000250}.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome																													ENST00000328703.7																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(106-108)del		HCLS1 associated protein X-1			,	145,4121		1,143,1989					,	-10.8	0.2			60	303,7951		0,303,3824	no	coding,intron	HAX1	NM_006118.3,NM_001018837.1	,	1,446,5813	A1A1,A1R,RR		3.6709,3.399,3.5783	,	,		448,12072				SO:0001651	inframe_deletion	10456	Kostmann syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154245864_154245866delGAA	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.106_108delGAA	1.37:g.154245873_154245875delGAA	ENSP00000329002:p.Glu40del					HAX1_ENST00000457918.2_Intron|HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del	p.E40del	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	319_321	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		40			Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	In_Frame_Del	DEL	ENST00000328703.7	37	c.106_108delGAA	CCDS1064.1																																																																																				0.522	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		13	521						13	521	---	---	---	---
KCNN3	3782	broad.mit.edu	37	1	154680586	154680588	+	In_Frame_Del	DEL	GCT	GCT	-	rs149440400		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:154680586_154680588delGCT	ENST00000271915.4	-	8	2375_2377	c.2060_2062delAGC	c.(2059-2064)cagctc>ctc	p.Q687del	KCNN3_ENST00000358505.2_In_Frame_Del_p.Q374del|KCNN3_ENST00000515643.1_5'UTR|KCNN3_ENST00000361147.4_In_Frame_Del_p.Q382del	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	692					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GCAGACAGGAGCTGCTGCTGCTG	0.64																																						ENST00000271915.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(2059-2064)ctc>c		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3																																				SO:0001651	inframe_deletion	3782					integral to membrane	calmodulin binding	g.chr1:154680586_154680588delGCT	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.2060_2062delAGC	1.37:g.154680595_154680597delGCT	ENSP00000271915:p.Gln687del					KCNN3_ENST00000515643.1_5'UTR|KCNN3_ENST00000361147.4_In_Frame_Del_p.QL382del|KCNN3_ENST00000358505.2_In_Frame_Del_p.QL374del	p.QL687del	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		8	2375_2377	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		692					B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Del	DEL	ENST00000271915.4	37	c.2060_2062delAGC	CCDS30880.1																																																																																				0.640	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		24	1108						24	1108	---	---	---	---
NR1I3	9970	broad.mit.edu	37	1	161202999	161203000	+	Frame_Shift_Ins	INS	-	-	G	rs139473535	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:161202999_161203000insG	ENST00000367982.4	-	4	522_523	c.367_368insC	c.(367-369)cgcfs	p.R123fs	NR1I3_ENST00000428574.2_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000511676.1_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000504010.1_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000508740.1_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000515621.1_Frame_Shift_Ins_p.R48fs|NR1I3_ENST00000437437.2_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000412844.2_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000515452.1_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000367985.3_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000505005.1_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000367983.4_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000506209.1_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000479324.1_5'Flank|NR1I3_ENST00000367984.4_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000442691.2_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000367980.2_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000512372.1_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000367979.2_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000367981.3_Frame_Shift_Ins_p.R94fs			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	123					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCCCATGTGGCGGGTGTGGGCC	0.564																																						ENST00000367983.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15						c.(367-369)ccafs		nuclear receptor subfamily 1, group I, member 3																																				SO:0001589	frameshift_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr1:161202999_161203000insG	Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"""Nuclear hormone receptors"""	7969	protein-coding gene	gene with protein product	"""constitutive androstane receptor"""	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.368dupC	1.37:g.161203002_161203002dupG	ENSP00000356961:p.Arg123fs					NR1I3_ENST00000437437.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367985.3_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000428574.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000442691.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000412844.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367982.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367979.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000505005.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000515621.1_Frame_Shift_Ins_p.P48fs|NR1I3_ENST00000515452.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367981.3_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367980.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000504010.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000512372.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000511676.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000508740.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000506209.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000367984.4_Frame_Shift_Ins_p.P123fs	p.P123fs			Q14994	NR1I3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	661_662	-	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		123					E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Frame_Shift_Ins	INS	ENST00000367982.4	37	c.367_368insC	CCDS41430.1																																																																																				0.564	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2			7	1794						7	1794	---	---	---	---
PCP4L1	654790	broad.mit.edu	37	1	161254154	161254156	+	In_Frame_Del	DEL	GGA	GGA	-	rs549268381		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:161254154_161254156delGGA	ENST00000504449.1	+	3	338_340	c.90_92delGGA	c.(88-93)gcggag>gcg	p.E35del		NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	Purkinje cell protein 4 like 1	35								p.A30A(1)|p.E35delE(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCAAGAAGGCGGAGGAGGAGGAG	0.488																																						ENST00000504449.1																			2	Substitution - coding silent(1)|Deletion - In frame(1)	p.A30A(1)|p.E35delE(1)	large_intestine(1)|lung(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(88-93)gcg>gc		Purkinje cell protein 4 like 1																																				SO:0001651	inframe_deletion	654790							g.chr1:161254154_161254156delGGA	BC028905	CCDS53412.1	1q23.3	2006-02-27	2006-02-27		ENSG00000248485	ENSG00000248485			20448	protein-coding gene	gene with protein product			"""purkinje cell protein 4 like 1"""				Standard	NM_001102566		Approved	IQM1	uc001gad.3	A6NKN8	OTTHUMG00000034340	ENST00000504449.1:c.90_92delGGA	1.37:g.161254163_161254165delGGA	ENSP00000426296:p.Glu35del						p.AE30del	NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	338_340	+	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		30					B2RV24|B9EJG4	In_Frame_Del	DEL	ENST00000504449.1	37	c.90_92delGGA	CCDS53412.1																																																																																				0.488	PCP4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082986.2			7	618						7	618	---	---	---	---
LMX1A	4009	broad.mit.edu	37	1	165177332	165177334	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:165177332_165177334delTGC	ENST00000342310.3	-	7	1165_1167	c.783_785delGCA	c.(781-786)cagcaa>caa	p.261_262QQ>Q	LMX1A_ENST00000367893.4_In_Frame_Del_p.261_262QQ>Q|RP11-38C18.2_ENST00000457106.1_RNA|LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_In_Frame_Del_p.261_262QQ>Q	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	261	Gln-rich.|Poly-Gln.				axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CTGCTGATCTTGCTGCTGCTGCT	0.567																																						ENST00000342310.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35						c.(781-786)caa>ca		LIM homeobox transcription factor 1, alpha																																				SO:0001651	inframe_deletion	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165177332_165177334delTGC	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.783_785delGCA	1.37:g.165177341_165177343delTGC	ENSP00000340226:p.Gln262del					LMX1A_ENST00000367893.4_In_Frame_Del_p.QQ261del|LMX1A_ENST00000294816.2_In_Frame_Del_p.QQ261del|LMX1A_ENST00000489443.2_5'UTR	p.QQ261del	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN			7	1165_1167	-	all_hematologic(923;0.248)		261			Gln-rich.|Poly-Gln.		B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	In_Frame_Del	DEL	ENST00000342310.3	37	c.783_785delGCA	CCDS1247.1																																																																																				0.567	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		7	256						7	256	---	---	---	---
PRG4	10216	broad.mit.edu	37	1	186276283	186276285	+	In_Frame_Del	DEL	ACT	ACT	-	rs200031345|rs146673354|rs145095882	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:186276283_186276285delACT	ENST00000445192.2	+	7	1477_1479	c.1432_1434delACT	c.(1432-1434)actdel	p.T478del	PRG4_ENST00000367486.3_In_Frame_Del_p.T435del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_In_Frame_Del_p.T385del|PRG4_ENST00000367483.4_In_Frame_Del_p.T437del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	478	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.P479delP(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TGCACCCACCACTCCCAAAGAGC	0.655																																						ENST00000445192.2																			1	Deletion - In frame(1)	p.P479delP(1)	large_intestine(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1432-1434)del		proteoglycan 4																																				SO:0001651	inframe_deletion	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276283_186276285delACT	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1432_1434delACT	1.37:g.186276283_186276285delACT	ENSP00000399679:p.Thr478del					PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_In_Frame_Del_p.T437del|PRG4_ENST00000367486.3_In_Frame_Del_p.T435del|PRG4_ENST00000367485.4_In_Frame_Del_p.T385del	p.T478del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1477_1479	+			478			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	In_Frame_Del	DEL	ENST00000445192.2	37	c.1432_1434delACT	CCDS1369.1																																																																																				0.655	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		7	850						7	850	---	---	---	---
IPO9	55705	broad.mit.edu	37	1	201843998	201844000	+	In_Frame_Del	DEL	GAG	GAG	-	rs543977738		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:201843998_201844000delGAG	ENST00000361565.4	+	22	2941_2943	c.2872_2874delGAG	c.(2872-2874)gagdel	p.E962del		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	962					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ggaggaggaagaggaggaggagg	0.443																																						ENST00000361565.4																			0				cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(2872-2874)del		importin 9				1,4265		0,1,2132						-9.5	0.1			127	2,8252		0,2,4125	no	coding	IPO9	NM_018085.4		0,3,6257	A1A1,A1R,RR		0.0242,0.0234,0.024				3,12517				SO:0001651	inframe_deletion	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201843998_201844000delGAG	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.2872_2874delGAG	1.37:g.201844007_201844009delGAG	ENSP00000354742:p.Glu962del						p.E962del	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN			22	2941_2943	+			962					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	In_Frame_Del	DEL	ENST00000361565.4	37	c.2872_2874delGAG	CCDS1415.1																																																																																				0.443	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		10	679						10	679	---	---	---	---
GPR37L1	9283	broad.mit.edu	37	1	202097525	202097527	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:202097525_202097527delCTG	ENST00000367282.5	+	2	1393_1395	c.1287_1289delCTG	c.(1285-1290)gactgc>gac	p.C436del		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	436	Cys-rich.				negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CCTTCCTGGActgctgctgctgc	0.626																																						ENST00000367282.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						c.(1285-1290)gac>ga		G protein-coupled receptor 37 like 1				2,128,4136		0,0,2,9,110,2012						3.1	1.0			46	5,240,8007		0,0,5,10,220,3891	no	codingComplex	GPR37L1	NM_004767.3		0,0,7,19,330,5903	A1A1,A1A2,A1R,A2A2,A2R,RR		2.969,3.0474,2.9957				7,368,12143				SO:0001651	inframe_deletion	9283					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr1:202097525_202097527delCTG	AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"""GPCR / Class A : Orphans"""	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.1287_1289delCTG	1.37:g.202097534_202097536delCTG	ENSP00000356251:p.Cys436del						p.DC429del	NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN			2	1393_1395	+			429			Cys-rich.		B2R7M9|Q5SXP7|Q86VP7	In_Frame_Del	DEL	ENST00000367282.5	37	c.1287_1289delCTG	CCDS1420.1																																																																																				0.626	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2	NM_004767		8	307						8	307	---	---	---	---
RP11-739N20.2	0	broad.mit.edu	37	1	204363980	204363980	+	RNA	DEL	A	A	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:204363980delA	ENST00000443515.1	+	0	146																											tttgtttttcaaaaaaaaaaa	0.308																																						ENST00000443515.1																			0																																																			0							g.chr1:204363980delA																													1.37:g.204363980delA														0	146	+									RNA	DEL	ENST00000443515.1	37																																																																																						0.308	RP11-739N20.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000087972.1			8	51						8	51	---	---	---	---
LYST	1130	broad.mit.edu	37	1	235922679	235922679	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr1:235922679delT	ENST00000389794.3	-	23	6648	c.6474delA	c.(6472-6474)aaafs	p.K2158fs	LYST_ENST00000389793.2_Frame_Shift_Del_p.K2158fs|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2158					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CCTCTTTGCCTTTTTTCAGTG	0.433																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(6472-6474)aafs		lysosomal trafficking regulator							165.0	157.0	160.0					1																	235922679		2203	4300	6503	SO:0001589	frameshift_variant	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235922679delT	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.6474delA	1.37:g.235922679delT	ENSP00000374444:p.Lys2158fs					LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Frame_Shift_Del_p.K2158fs	p.K2158fs			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		23	6648	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	2158					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Frame_Shift_Del	DEL	ENST00000389794.3	37	c.6474delA	CCDS31062.1																																																																																				0.433	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			7	745						7	745	---	---	---	---
SMC6	79677	broad.mit.edu	37	2	17898126	17898126	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr2:17898126delT	ENST00000448223.2	-	14	1497	c.1228delA	c.(1228-1230)atafs	p.I410fs	SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs|SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs|SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	410					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACCAAGATATTTTTTTTTGT	0.343																																						ENST00000448223.2																			0				NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43						c.(1228-1230)tafs		structural maintenance of chromosomes 6							82.0	78.0	80.0					2																	17898126		2203	4297	6500	SO:0001589	frameshift_variant	79677				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr2:17898126delT	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.1228delA	2.37:g.17898126delT	ENSP00000404092:p.Ile410fs					SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs|SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs|SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs	p.I410fs	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN			14	1497	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		410					A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Frame_Shift_Del	DEL	ENST00000448223.2	37	c.1228delA	CCDS1690.1																																																																																				0.343	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		7	241						7	241	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)aagdel	p.K1310del	OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1310	Poly-Lys.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCAGTGCCcttcttcttcttc	0.576																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(3928-3930)del		otoferlin			,,,	10,9,4247		0,0,10,0,9,2114					,,,	4.9	1.0			146	5,24,8225		0,0,5,0,24,4098	no	codingComplex,codingComplex,codingComplex,codingComplex	OTOF	NM_194323.2,NM_194322.2,NM_194248.2,NM_004802.3	,,,	0,0,15,0,33,6212	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3513,0.4454,0.3834	,,,	,,,		15,33,12472				SO:0001651	inframe_deletion	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26693554_26693556delCTT	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3928_3930delAAG	2.37:g.26693563_26693565delCTT	ENSP00000272371:p.Lys1310del					OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del	p.K1310del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			32	4054_4056	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1310			Poly-Lys.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	In_Frame_Del	DEL	ENST00000272371.2	37	c.3928_3930delAAG	CCDS1725.1																																																																																				0.576	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			9	563						9	563	---	---	---	---
DHX57	90957	broad.mit.edu	37	2	39095411	39095413	+	In_Frame_Del	DEL	CCA	CCA	-	rs199521315|rs372484063|rs199910361	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr2:39095411_39095413delCCA	ENST00000295373.6	-	2	261_263	c.135_137delTGG	c.(133-138)ggtgga>gga	p.45_46GG>G	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	45	Gly-rich.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				Gccgccacctccaccaccaccac	0.532														22	0.00439297	0.0159	0.0014	5008	,	,		13864	0.0		0.0	False		,,,				2504	0.0				Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(133-138)gga>gg		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57																																				SO:0001651	inframe_deletion	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39095411_39095413delCCA	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.135_137delTGG	2.37:g.39095420_39095422delCCA	ENSP00000295373:p.Gly49del						p.GG47del	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			2	261_263	-		all_hematologic(82;0.248)	47			Gly-rich.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	In_Frame_Del	DEL	ENST00000295373.6	37	c.135_137delTGG	CCDS1800.1																																																																																				0.532	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		12	534						12	534	---	---	---	---
IGKV1D-8	28904	broad.mit.edu	37	2	90259860	90259861	+	RNA	INS	-	-	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr2:90259860_90259861insC	ENST00000471857.1	+	0	236									immunoglobulin kappa variable 1D-8																		AATTTACTCAGCCAATGTGCTC	0.48																																						ENST00000471857.1																			0																																																			0							g.chr2:90259860_90259861insC	Z00008		2p11.2	2012-02-08			ENSG00000239819	ENSG00000239819		"""Immunoglobulins / IGK locus"""	5759	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151570		2.37:g.90259862_90259862dupC														0	236	+									RNA	INS	ENST00000471857.1	37																																																																																						0.480	IGKV1D-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323145.2	NG_000833		17	834						17	834	---	---	---	---
SULT1C3	442038	broad.mit.edu	37	2	108863685	108863685	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr2:108863685delA	ENST00000329106.2	+	1	35	c.35delA	c.(34-36)gaafs	p.E12fs	SULT1C3_ENST00000376700.1_Frame_Shift_Del_p.E12fs	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	12					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						CCCACGATGGAAAAAAAGCCA	0.353																																						ENST00000376700.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						c.(34-36)gafs		sulfotransferase family, cytosolic, 1C, member 3							90.0	96.0	94.0					2																	108863685		2203	4300	6503	SO:0001589	frameshift_variant	442038					cytoplasm	alcohol sulfotransferase activity	g.chr2:108863685delA	BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"""Sulfotransferases, cytosolic"""	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.35delA	2.37:g.108863685delA	ENSP00000333310:p.Glu12fs					SULT1C3_ENST00000329106.2_Frame_Shift_Del_p.E12fs	p.E12fs			Q6IMI6	ST1C3_HUMAN			1	35	+			12					Q6IMI5	Frame_Shift_Del	DEL	ENST00000329106.2	37	c.35delA	CCDS33267.1																																																																																				0.353	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330255.1	NM_001008743		7	547						7	547	---	---	---	---
FOXD4L1	200350	broad.mit.edu	37	2	114257058	114257059	+	In_Frame_Ins	INS	-	-	GGC	rs369535331|rs557578751	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr2:114257058_114257059insGGC	ENST00000306507.5	+	1	398_399	c.225_226insGGC	c.(226-228)ggc>GGCggc	p.76_76G>GG		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	76					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G76C(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						AGCACATCGAGGGCGGCGGCCC	0.708														163	0.0325479	0.0045	0.0403	5008	,	,		10259	0.0942		0.006	False		,,,				2504	0.0286					ENST00000306507.5																			1	Substitution - Missense(1)	p.G76C(1)	breast(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						c.(223-228)gagcgg>gaGGCgcgg		forkhead box D4-like 1																																				SO:0001652	inframe_insertion	200350				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:114257058_114257059insGGC	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.232_234dupGGC	2.37:g.114257065_114257067dupGGC	ENSP00000302756:p.Gly78dup						p.75_76ER>EAR	NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN			1	398_399	+			75					B3KWN1|B9EGF3	In_Frame_Ins	INS	ENST00000306507.5	37	c.225_226insGGC	CCDS2117.1																																																																																				0.708	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184		7	490						7	490	---	---	---	---
PLA2R1	22925	broad.mit.edu	37	2	160801441	160801442	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr2:160801441_160801442insT	ENST00000283243.7	-	28	4325_4326	c.4119_4120insA	c.(4117-4122)aaaggcfs	p.G1374fs	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1374	C-type lectin 8. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CATATAAAGCCTTTTTTTTCTT	0.401																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(4117-4122)aagcttfs		phospholipase A2 receptor 1, 180kDa																																				SO:0001589	frameshift_variant	0				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160801441_160801442insT	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.4120dupA	2.37:g.160801449_160801449dupT	ENSP00000283243:p.Gly1374fs					PLA2R1_ENST00000460710.1_5'UTR	p.L1374fs	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN			28	4325_4326	-			1374			C-type lectin 8.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Frame_Shift_Ins	INS	ENST00000283243.7	37	c.4119_4120insA	CCDS33309.1																																																																																				0.401	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			10	1059						10	1059	---	---	---	---
HIBCH	26275	broad.mit.edu	37	2	191161629	191161629	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr2:191161629delT	ENST00000359678.5	-	3	423	c.129delA	c.(127-129)aaafs	p.K43fs	HIBCH_ENST00000392332.3_Frame_Shift_Del_p.K43fs	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	43					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			CCGTGCAACCTTTTTTTTCCA	0.353																																						ENST00000392332.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13						c.(127-129)aafs		3-hydroxyisobutyryl-CoA hydrolase							116.0	104.0	108.0					2																	191161629		2203	4300	6503	SO:0001589	frameshift_variant	26275				branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding	g.chr2:191161629delT	U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"""3-hydroxyisobutyryl-Coenzyme A hydrolase"""			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.129delA	2.37:g.191161629delT	ENSP00000352706:p.Lys43fs					HIBCH_ENST00000359678.5_Frame_Shift_Del_p.K43fs	p.K43fs			Q6NVY1	HIBCH_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)		3	268	-			43					D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Frame_Shift_Del	DEL	ENST00000359678.5	37	c.129delA	CCDS2304.1																																																																																				0.353	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255933.1			8	401						8	401	---	---	---	---
TNS1	7145	broad.mit.edu	37	2	218712887	218712889	+	In_Frame_Del	DEL	GCT	GCT	-	rs375721540|rs574153391		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr2:218712887_218712889delGCT	ENST00000171887.4	-	17	2428_2430	c.1976_1978delAGC	c.(1975-1980)cagcct>cct	p.Q659del	TNS1_ENST00000480665.1_5'Flank|TNS1_ENST00000419504.1_In_Frame_Del_p.Q659del|TNS1_ENST00000430930.1_In_Frame_Del_p.Q659del	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	659	Gln-rich.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGTGGGCGAGgctgctgctgctg	0.66																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1975-1980)cct>c		tensin 1																																				SO:0001651	inframe_deletion	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218712887_218712889delGCT	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1976_1978delAGC	2.37:g.218712896_218712898delGCT	ENSP00000171887:p.Gln659del					TNS1_ENST00000419504.1_In_Frame_Del_p.QP659del|TNS1_ENST00000430930.1_In_Frame_Del_p.QP659del	p.QP659del	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	17	2428_2430	-		Renal(207;0.0483)|Lung NSC(271;0.213)	659			Gln-rich.		Q4ZG71|Q6IPI5	In_Frame_Del	DEL	ENST00000171887.4	37	c.1976_1978delAGC	CCDS2407.1																																																																																				0.660	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		12	233						12	233	---	---	---	---
IRS1	3667	broad.mit.edu	37	2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr2:227660808_227660810delGCT	ENST00000305123.5	-	1	3665_3667	c.2645_2647delAGC	c.(2644-2649)cagccc>ccc	p.Q882del	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGCAGCAAGGgctgctgctgctg	0.626																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(2644-2649)ccc>c		insulin receptor substrate 1																																				SO:0001651	inframe_deletion	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.chr2:227660808_227660810delGCT		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.2645_2647delAGC	2.37:g.227660817_227660819delGCT	ENSP00000304895:p.Gln882del						p.QP882del	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	3665_3667	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	882			Poly-Gln.			In_Frame_Del	DEL	ENST00000305123.5	37	c.2645_2647delAGC	CCDS2463.1																																																																																				0.626	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		10	567						10	567	---	---	---	---
GIGYF2	26058	broad.mit.edu	37	2	233681704	233681704	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr2:233681704delA	ENST00000409547.1	+	22	2643	c.2332delA	c.(2332-2334)aaafs	p.K778fs	GIGYF2_ENST00000373563.4_Frame_Shift_Del_p.K778fs|GIGYF2_ENST00000409451.3_Frame_Shift_Del_p.K799fs|GIGYF2_ENST00000409196.3_Frame_Shift_Del_p.K772fs|GIGYF2_ENST00000452341.2_Frame_Shift_Del_p.K609fs|GIGYF2_ENST00000373566.3_Frame_Shift_Del_p.K800fs|GIGYF2_ENST00000409480.1_Frame_Shift_Del_p.K800fs	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	778	Gln-rich.|Glu-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AGAAGAAAGGAAAAGGCGAGA	0.488																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(2398-2400)aafs		GRB10 interacting GYF protein 2							211.0	197.0	202.0					2																	233681704		2203	4300	6503	SO:0001589	frameshift_variant	26058				cell death		protein binding	g.chr2:233681704delA	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2332delA	2.37:g.233681704delA	ENSP00000386537:p.Lys778fs					GIGYF2_ENST00000409196.3_Frame_Shift_Del_p.K772fs|GIGYF2_ENST00000409480.1_Frame_Shift_Del_p.K800fs|GIGYF2_ENST00000452341.2_Frame_Shift_Del_p.K609fs|GIGYF2_ENST00000409547.1_Frame_Shift_Del_p.K778fs|GIGYF2_ENST00000409451.3_Frame_Shift_Del_p.K799fs|GIGYF2_ENST00000373563.4_Frame_Shift_Del_p.K778fs	p.K800fs			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	21	2595	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	778			Gln-rich.|Glu-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Frame_Shift_Del	DEL	ENST00000409547.1	37	c.2398delA	CCDS33401.1																																																																																				0.488	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		7	1558						7	1558	---	---	---	---
FANCD2	2177	broad.mit.edu	37	3	10065573	10065574	+	5'Flank	INS	-	-	A	rs140644498	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr3:10065573_10065574insA	ENST00000419585.1	+	0	0				FANCD2_ENST00000287647.3_5'Flank|FANCD2_ENST00000383807.1_5'Flank|CIDECP_ENST00000432401.1_RNA|FANCD2_ENST00000383806.1_5'Flank			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2						DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		gtgaatatactaaaaaaccctg	0.332			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				aaaaaa|AAAAAA|AAAAAAA|insertion	143	0.0285543	0.0	0.0216	5008	,	,		19882	0.0427		0.0358	False		,,,				2504	0.0501					ENST00000432401.1			yes	Rec		Fanconi anaemia D2	3	3p26	2177		"""Fanconi anemia, complementation group D2"""			L					0																																																	SO:0001631	upstream_gene_variant	0		Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)				g.chr3:10065573_10065574insA	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670		3.37:g.10065579_10065579dupA	Exception_encountered													0	317	-								Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	RNA	INS	ENST00000419585.1	37		CCDS33696.1																																																																																				0.332	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			19	16						19	16	---	---	---	---
TMEM40	55287	broad.mit.edu	37	3	12790156	12790158	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr3:12790156_12790158delGAG	ENST00000314124.7	-	3	563_565	c.207_209delCTC	c.(205-210)tcctca>tca	p.69_70SS>S	TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000264728.8_In_Frame_Del_p.69_70SS>S|TMEM40_ENST00000435218.2_In_Frame_Del_p.69_70SS>S|TMEM40_ENST00000431022.2_In_Frame_Del_p.85_86SS>S	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	69	Ser-rich.					integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TGCTATACCTgaggaggaggagg	0.394																																						ENST00000314124.7																			0				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						c.(205-210)tca>tc		transmembrane protein 40																																				SO:0001651	inframe_deletion	55287					integral to membrane		g.chr3:12790156_12790158delGAG	BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.207_209delCTC	3.37:g.12790165_12790167delGAG	ENSP00000322837:p.Ser70del					TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000435218.2_In_Frame_Del_p.SS69del|TMEM40_ENST00000431022.2_In_Frame_Del_p.SS85del|TMEM40_ENST00000264728.8_In_Frame_Del_p.SS69del	p.SS69del	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN			3	563_565	-			69			Ser-rich.		C9JID5|Q8NAL4|Q9NUZ4	In_Frame_Del	DEL	ENST00000314124.7	37	c.207_209delCTC	CCDS2613.1																																																																																				0.394	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2	NM_018306		8	801						8	801	---	---	---	---
PDCD6IP	10015	broad.mit.edu	37	3	33866811	33866811	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr3:33866811delT	ENST00000307296.3	+	5	972	c.595delT	c.(595-597)tttfs	p.F200fs	PDCD6IP_ENST00000457054.2_Frame_Shift_Del_p.F200fs			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	200	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TCAAGAAGTATTTTTTTTAAA	0.368																																						ENST00000307296.3																			0				central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						c.(595-597)ttfs		programmed cell death 6 interacting protein							94.0	101.0	99.0					3																	33866811		2203	4300	6503	SO:0001589	frameshift_variant	10015				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding	g.chr3:33866811delT	BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.595delT	3.37:g.33866811delT	ENSP00000307387:p.Phe200fs					PDCD6IP_ENST00000457054.2_Frame_Shift_Del_p.F200fs	p.F200fs			Q8WUM4	PDC6I_HUMAN			5	972	+			200			BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.		C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Frame_Shift_Del	DEL	ENST00000307296.3	37	c.595delT	CCDS2660.1																																																																																				0.368	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2			7	528						7	528	---	---	---	---
APEH	327	broad.mit.edu	37	3	49723112	49723112	+	IGR	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr3:49723112delT	ENST00000296456.5	+	0	3220				MST1_ENST00000383728.3_3'UTR|MST1_ENST00000494828.2_5'Flank|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Frame_Shift_Del_p.N435fs	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCATCTGGGTTCCGGCAGAA	0.587																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1303-1305)acfs		macrophage stimulating 1 (hepatocyte growth factor-like)							43.0	42.0	43.0					3																	49723112		2203	4300	6503	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723112delT	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723112delT						MST1_ENST00000383728.3_3'UTR	p.N435fs	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	11	1665	-			421			Kringle 4.		Q9BQ33|Q9P0Y2	Frame_Shift_Del	DEL	ENST00000296456.5	37	c.1304delA	CCDS2801.1																																																																																				0.587	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			7	308						7	308	---	---	---	---
MST1R	4486	broad.mit.edu	37	3	49940112	49940112	+	Frame_Shift_Del	DEL	C	C	-	rs201805638		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr3:49940112delC	ENST00000296474.3	-	1	958	c.931delG	c.(931-933)gccfs	p.A311fs	CTD-2330K9.2_ENST00000435478.1_RNA|CTD-2330K9.3_ENST00000419183.1_5'Flank|MST1R_ENST00000344206.4_Frame_Shift_Del_p.A311fs	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	311	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CCTTCTGGGGCCCCCCGGCGC	0.667																																						ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(931-933)ccfs		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							60.0	72.0	68.0					3																	49940112		2203	4300	6503	SO:0001589	frameshift_variant	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49940112delC	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.931delG	3.37:g.49940112delC	ENSP00000296474:p.Ala311fs					MST1R_ENST00000344206.4_Frame_Shift_Del_p.A311fs|CTD-2330K9.2_ENST00000435478.1_RNA	p.A311fs	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	1	958	-			311			Sema.		B5A944|B5A945|B5A946|B5A947	Frame_Shift_Del	DEL	ENST00000296474.3	37	c.931delG	CCDS2807.1																																																																																				0.667	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			7	1062						7	1062	---	---	---	---
GABRR3	200959	broad.mit.edu	37	3	97744539	97744540	+	RNA	INS	-	-	A	rs558209431	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr3:97744539_97744540insA	ENST00000472788.1	-	0	127					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			large_intestine(2)|lung(1)	3					Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	CCCCCAAAGGGAAAAAAAAAAC	0.376																																						ENST00000472788.1																			0				large_intestine(2)|lung(1)	3								gamma-aminobutyric acid (GABA) A receptor, rho 3																																						200959				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr3:97744539_97744540insA	Y18994	CCDS54617.1	3q11.2	2014-03-25	2014-03-25		ENSG00000183185	ENSG00000183185		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	17969	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 3"""		"""gamma-aminobutyric acid (GABA) receptor, rho 3"", ""gamma-aminobutyric acid (GABA) A receptor, rho 3"""			10542332	Standard	NM_001105580		Approved		uc021xbp.1	A8MPY1	OTTHUMG00000159135		3.37:g.97744549_97744549dupA								NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN			0	127	-								Q9UIV9	RNA	INS	ENST00000472788.1	37																																																																																						0.376	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000353445.2			8	80						8	80	---	---	---	---
KIAA1407	57577	broad.mit.edu	37	3	113737652	113737653	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr3:113737652_113737653insC	ENST00000295878.3	-	8	1181_1182	c.1035_1036insG	c.(1033-1038)gggaaafs	p.K346fs	KIAA1407_ENST00000545063.1_Frame_Shift_Ins_p.K177fs	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	346										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GTCCCAGCTTTCCCCAGCTTAA	0.505																																						ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(1033-1038)ggaagcfs		KIAA1407																																				SO:0001589	frameshift_variant	57577							g.chr3:113737652_113737653insC	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1036dupG	3.37:g.113737656_113737656dupC	ENSP00000295878:p.Lys346fs					KIAA1407_ENST00000545063.1_Frame_Shift_Ins_p.S177fs	p.S346fs	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN			8	1181_1182	-			346					B4DYL1|Q9P2E0	Frame_Shift_Ins	INS	ENST00000295878.3	37	c.1035_1036insG	CCDS2977.1																																																																																				0.505	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		8	1965						8	1965	---	---	---	---
TMCC1	23023	broad.mit.edu	37	3	129370576	129370578	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr3:129370576_129370578delCTG	ENST00000393238.3	-	6	2048_2050	c.1708_1710delCAG	c.(1708-1710)cagdel	p.Q570del	TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del|TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	570						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GCTGCACCACCTGCTGCTGCTGC	0.581																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1708-1710)del		transmembrane and coiled-coil domain family 1																																				SO:0001651	inframe_deletion	23023					integral to membrane		g.chr3:129370576_129370578delCTG	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1708_1710delCAG	3.37:g.129370585_129370587delCTG	ENSP00000376930:p.Gln570del					TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del|TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del	p.Q570del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			6	2048_2050	-			570					A8K5Y3|B4DE04|Q68E06|Q8IXM8	In_Frame_Del	DEL	ENST00000393238.3	37	c.1708_1710delCAG	CCDS33855.1																																																																																				0.581	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		21	797						21	797	---	---	---	---
TMCC1	23023	broad.mit.edu	37	3	129546680	129546682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr3:129546680_129546682delGCA	ENST00000393238.3	-	3	880_882	c.540_542delTGC	c.(538-543)gctgca>gca	p.180_181AA>A	TMCC1_ENST00000426664.2_In_Frame_Del_p.66_67AA>A	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	180						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TGGTAGACATgcagcagcagcag	0.483																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(538-543)gca>gc		transmembrane and coiled-coil domain family 1																																				SO:0001651	inframe_deletion	23023					integral to membrane		g.chr3:129546680_129546682delGCA	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.540_542delTGC	3.37:g.129546689_129546691delGCA	ENSP00000376930:p.Ala181del					TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del	p.AA180del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			3	880_882	-			180					A8K5Y3|B4DE04|Q68E06|Q8IXM8	In_Frame_Del	DEL	ENST00000393238.3	37	c.540_542delTGC	CCDS33855.1																																																																																				0.483	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		9	298						9	298	---	---	---	---
PFN2	5217	broad.mit.edu	37	3	149769296	149769296	+	5'Flank	DEL	C	C	-	rs59377959|rs367768558|rs537947799	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr3:149769296delC	ENST00000497148.1	-	0	0				RP11-167H9.4_ENST00000487840.1_RNA			P35080	PROF2_HUMAN	profilin 2						actin cytoskeleton organization (GO:0030036)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|regulation of synaptic vesicle exocytosis (GO:2000300)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|terminal bouton (GO:0043195)	actin monomer binding (GO:0003785)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTCCTGGTGTCtttttttttt	0.463																																						ENST00000487840.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr3:149769296delC	L10678	CCDS3148.1, CCDS46934.1	3q25.1	2006-10-16			ENSG00000070087	ENSG00000070087			8882	protein-coding gene	gene with protein product		176590				8975700, 8365484	Standard	NM_002628		Approved		uc003ext.1	P35080	OTTHUMG00000159683		3.37:g.149769296delC	Exception_encountered													0	46	+								B2R4C8|D3DNI4|Q4VBQ4|Q8WVF9|Q9HBK2	RNA	DEL	ENST00000497148.1	37																																																																																						0.463	PFN2-018	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000357104.1	NM_002628		14	415						14	415	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	150877786	150877786	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr3:150877786delC	ENST00000474524.1	+	7	1043	c.1005delC	c.(1003-1005)ggcfs	p.G335fs	MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	335						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGCCCTGGCCCCCCCGGCC	0.582																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(1003-1005)ggfs		mediator complex subunit 12-like							83.0	94.0	90.0					3																	150877786		2203	4300	6503	SO:0001589	frameshift_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150877786delC	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1005delC	3.37:g.150877786delC	ENSP00000417235:p.Gly335fs					MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs|MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs|MED12L_ENST00000273432.4_Intron	p.G335fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		7	1043	+			335					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Frame_Shift_Del	DEL	ENST00000474524.1	37	c.1005delC	CCDS33876.1																																																																																				0.582	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		9	1284						9	1284	---	---	---	---
DHX36	170506	broad.mit.edu	37	3	154032977	154032978	+	Frame_Shift_Ins	INS	-	-	T	rs373108427		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr3:154032977_154032978insT	ENST00000496811.1	-	3	540_541	c.460_461insA	c.(460-462)atgfs	p.M154fs	DHX36_ENST00000329463.5_Frame_Shift_Ins_p.M154fs|DHX36_ENST00000544526.1_Frame_Shift_Ins_p.M154fs|DHX36_ENST00000308361.6_Frame_Shift_Ins_p.M154fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	154					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GATTCTAAACATTTTTTTTTCT	0.337																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(460-462)gttfs		DEAH (Asp-Glu-Ala-His) box polypeptide 36																																				SO:0001589	frameshift_variant	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154032977_154032978insT	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.461dupA	3.37:g.154032986_154032986dupT	ENSP00000417078:p.Met154fs					DHX36_ENST00000329463.5_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000308361.6_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000544526.1_Frame_Shift_Ins_p.V154fs	p.V154fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		3	540_541	-			154					B2RB00|Q70JU3|Q8IYE5|Q9P240	Frame_Shift_Ins	INS	ENST00000496811.1	37	c.460_461insA	CCDS3171.1																																																																																				0.337	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		9	330						9	330	---	---	---	---
IL12A-AS1	101928376	broad.mit.edu	37	3	159820697	159820698	+	RNA	INS	-	-	A	rs527889186|rs113756526	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr3:159820697_159820698insA	ENST00000497452.1	-	0	517									IL12A antisense RNA 1																		TTGGAacagtgaaaaaaaaaag	0.277													|||unknown(HR)	612	0.122204	0.261	0.0533	5008	,	,		18975	0.0923		0.0815	False		,,,				2504	0.0562					ENST00000497452.1																			0																																																			0							g.chr3:159820697_159820698insA	AK097161		3q25.33	2013-09-02			ENSG00000244040	ENSG00000244040		"""Long non-coding RNAs"""	49094	non-coding RNA	RNA, long non-coding							Standard	NR_108088		Approved				OTTHUMG00000158951		3.37:g.159820707_159820707dupA														0	517	-									RNA	INS	ENST00000497452.1	37																																																																																						0.277	IL12A-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000352647.1			28	34						28	34	---	---	---	---
SMC4	10051	broad.mit.edu	37	3	160143940	160143940	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr3:160143940delA	ENST00000357388.3	+	17	3008	c.2557delA	c.(2557-2559)aaafs	p.K855fs	SMC4_ENST00000462787.1_Frame_Shift_Del_p.K855fs|SMC4_ENST00000469762.1_Frame_Shift_Del_p.K830fs|SMC4_ENST00000344722.5_Frame_Shift_Del_p.K855fs|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Frame_Shift_Del_p.K855fs	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	855					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AGCCCCTGACAAAAAAAAGCA	0.323																																						ENST00000357388.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2557-2559)aafs		structural maintenance of chromosomes 4							120.0	135.0	129.0					3																	160143940		2203	4298	6501	SO:0001589	frameshift_variant	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160143940delA	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.2557delA	3.37:g.160143940delA	ENSP00000349961:p.Lys855fs					SMC4_ENST00000462787.1_Frame_Shift_Del_p.K855fs|SMC4_ENST00000344722.5_Frame_Shift_Del_p.K855fs|SMC4_ENST00000360111.2_Frame_Shift_Del_p.K855fs|SMC4_ENST00000469762.1_Frame_Shift_Del_p.K830fs|RP11-432B6.3_ENST00000483754.1_Intron	p.K855fs	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		17	3008	+			855					A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Frame_Shift_Del	DEL	ENST00000357388.3	37	c.2557delA	CCDS3189.1																																																																																				0.323	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			12	1252						12	1252	---	---	---	---
FETUB	26998	broad.mit.edu	37	3	186362544	186362544	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr3:186362544delA	ENST00000265029.3	+	4	530	c.429delA	c.(427-429)tcafs	p.S143fs	FETUB_ENST00000539949.1_5'UTR|FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs|FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000488561.1_3'UTR	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	143					binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CAACAGTTTCAAAAAAAAAGA	0.418																																						ENST00000265029.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20						c.(427-429)tcfs		fetuin B							91.0	87.0	89.0					3																	186362544		2203	4300	6503	SO:0001589	frameshift_variant	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186362544delA	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.429delA	3.37:g.186362544delA	ENSP00000265029:p.Ser143fs					FETUB_ENST00000539949.1_5'UTR|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs|RP11-134F2.2_ENST00000455926.1_RNA|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs|FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs	p.S143fs	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	4	530	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		143					B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Frame_Shift_Del	DEL	ENST00000265029.3	37	c.429delA	CCDS3279.1																																																																																				0.418	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		13	735						13	735	---	---	---	---
ATP13A3	79572	broad.mit.edu	37	3	194181471	194181473	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr3:194181471_194181473delGAG	ENST00000439040.1	-	4	930_932	c.139_141delCTC	c.(139-141)ctcdel	p.L47del	ATP13A3_ENST00000256031.4_In_Frame_Del_p.L47del			Q9H7F0	AT133_HUMAN	ATPase type 13A3	47						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GCATCCAATAGAGGAGGAGGAGG	0.463																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(139-141)del		ATPase type 13A3																																				SO:0001651	inframe_deletion	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194181471_194181473delGAG	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.139_141delCTC	3.37:g.194181480_194181482delGAG	ENSP00000416508:p.Leu47del					ATP13A3_ENST00000256031.4_In_Frame_Del_p.L47del	p.L47del			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	4	930_932	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	47					Q8NC11|Q96KS1	In_Frame_Del	DEL	ENST00000439040.1	37	c.139_141delCTC	CCDS43187.1																																																																																				0.463	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		7	810						7	810	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195400639	195400641	+	lincRNA	DEL	GTG	GTG	-	rs145880653|rs147886708		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr3:195400639_195400641delGTG	ENST00000445430.1	+	0	1284									long intergenic non-protein coding RNA 969																		AGGTGGGCTTGTGGAGGAATGGG	0.552																																						ENST00000445430.1																			0																																																			0							g.chr3:195400639_195400641delGTG	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400639_195400641delGTG														0	1284	+									RNA	DEL	ENST00000445430.1	37																																																																																						0.552	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			8	156						8	156	---	---	---	---
SDHAP1	255812	broad.mit.edu	37	3	195717077	195717078	+	RNA	INS	-	-	GCGCCAG	rs55821214|rs369994643		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr3:195717077_195717078insGCGCCAG	ENST00000427841.1	-	0	72_73					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		GGCCAGCGCCAGCGCCAGGCGC	0.782																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195717077_195717078insGCGCCAG	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195717078_195717084dupGCGCCAG								NR_003264.2						0	72_73	-									RNA	INS	ENST00000427841.1	37																																																																																						0.782	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			8	62						8	62	---	---	---	---
RNF168	165918	broad.mit.edu	37	3	196214338	196214338	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr3:196214338delT	ENST00000318037.3	-	3	1084	c.490delA	c.(490-492)aggfs	p.R166fs		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	166	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GCTCTTCGCCTTTTTTCTGCC	0.448																																						ENST00000318037.3																			0				NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20						c.(490-492)ggfs		ring finger protein 168, E3 ubiquitin protein ligase							512.0	470.0	484.0					3																	196214338		2203	4300	6503	SO:0001589	frameshift_variant	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196214338delT	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.490delA	3.37:g.196214338delT	ENSP00000320898:p.Arg166fs						p.R166fs	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	3	1084	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		166			Glu-rich.		Q8NA67|Q96NS4	Frame_Shift_Del	DEL	ENST00000318037.3	37	c.490delA	CCDS3317.1																																																																																				0.448	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		8	1913						8	1913	---	---	---	---
OTOP1	133060	broad.mit.edu	37	4	4204225	4204229	+	Frame_Shift_Del	DEL	TTGAG	TTGAG	-	rs369956607		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr4:4204225_4204229delTTGAG	ENST00000296358.4	-	4	700_704	c.676_680delCTCAA	c.(676-681)ctcaatfs	p.LN226fs		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	226					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.L226fs*1(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTGTGCTCATTGAGTTGGTGCTTT	0.502																																						ENST00000296358.4																			1	Deletion - Frameshift(1)	p.L226fs*1(1)	liver(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(676-681)tfs		otopetrin 1																																				SO:0001589	frameshift_variant	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4204225_4204229delTTGAG	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.676_680delCTCAA	4.37:g.4204225_4204229delTTGAG	ENSP00000296358:p.Leu226fs						p.LN226fs	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	4	700_704	-			226					A1L476	Frame_Shift_Del	DEL	ENST00000296358.4	37	c.676_680delCTCAA	CCDS3372.1																																																																																				0.502	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		7	536						7	536	---	---	---	---
LIMCH1	22998	broad.mit.edu	37	4	41648508	41648509	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr4:41648508_41648509delGA	ENST00000313860.7	+	12	1317_1318	c.1263_1264delGA	c.(1261-1266)cggagafs	p.RR421fs	LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	421					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.E810fs*3(1)|p.E425fs*3(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TTAGAGAGCGGAGAGAGAGAGA	0.465																																						ENST00000313860.7																			2	Deletion - Frameshift(2)	p.E810fs*3(1)|p.E425fs*3(1)	ovary(2)	central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(1261-1266)cggafs		LIM and calponin homology domains 1																																				SO:0001589	frameshift_variant	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41648508_41648509delGA	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.1263_1264delGA	4.37:g.41648518_41648519delGA	ENSP00000316891:p.Arg421fs					LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs	p.RR421fs	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN			12	1317_1318	+			421					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Frame_Shift_Del	DEL	ENST00000313860.7	37	c.1263_1264delGA	CCDS33977.1																																																																																				0.465	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		13	597						13	597	---	---	---	---
C4orf22	255119	broad.mit.edu	37	4	81791254	81791254	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr4:81791254delA	ENST00000358105.3	+	4	490	c.441delA	c.(439-441)ggafs	p.G147fs	C4orf22_ENST00000508675.1_Frame_Shift_Del_p.G164fs	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	147										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						ACTTTACTGGAAAAAAAAGAC	0.373																																						ENST00000358105.3																			0				NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						c.(439-441)ggfs		chromosome 4 open reading frame 22																																				SO:0001589	frameshift_variant	255119							g.chr4:81791254delA	BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.441delA	4.37:g.81791254delA	ENSP00000350818:p.Gly147fs					C4orf22_ENST00000508675.1_Frame_Shift_Del_p.G164fs	p.G147fs	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN			4	490	+			147					E7EQ13|Q6ZQY4|Q8N4G9	Frame_Shift_Del	DEL	ENST00000358105.3	37	c.441delA	CCDS3587.1																																																																																				0.373	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252629.2	NM_152770		7	432						7	432	---	---	---	---
NAP1L5	266812	broad.mit.edu	37	4	89618431	89618433	+	In_Frame_Del	DEL	CCT	CCT	-	rs372401787		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr4:89618431_89618433delCCT	ENST00000323061.5	-	1	953_955	c.473_475delAGG	c.(472-477)gaggct>gct	p.E158del	HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	158	Glu-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		TCTGCCGCAGcctcctcctcctc	0.626																																						ENST00000323061.5																			0				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7						c.(472-477)gct>g		nucleosome assembly protein 1-like 5																																				SO:0001651	inframe_deletion	266812				nucleosome assembly	nucleus	protein binding	g.chr4:89618431_89618433delCCT	NM_153757	CCDS3632.1	4q21-q22	2006-04-12			ENSG00000177432	ENSG00000177432			19968	protein-coding gene	gene with protein product		612203				12383514	Standard	NM_153757		Approved	DRLM	uc003hrx.3	Q96NT1	OTTHUMG00000130950	ENST00000323061.5:c.473_475delAGG	4.37:g.89618440_89618442delCCT	ENSP00000320488:p.Glu158del					HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron	p.EA158del	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000181)	1	953_955	-			158			Glu-rich.			In_Frame_Del	DEL	ENST00000323061.5	37	c.473_475delAGG	CCDS3632.1																																																																																				0.626	NAP1L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253551.1	NM_153757		9	880						9	880	---	---	---	---
CXXC4	80319	broad.mit.edu	37	4	105412465	105412467	+	5'UTR	DEL	GCC	GCC	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr4:105412465_105412467delGCC	ENST00000426831.1	-	0	0_2				CXXC4_ENST00000394767.2_In_Frame_Del_p.G165del|AC093628.1_ENST00000606234.1_RNA|AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000466963.1_Intron			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4						negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TGGTCCTgctgccgccgccgccg	0.695																																						ENST00000394767.2																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(493-495)del		CXXC finger protein 4																																				SO:0001623	5_prime_UTR_variant	80319				negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	g.chr4:105412465_105412467delGCC		CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"""Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"""	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000426831.1:c.-15GGC>-	4.37:g.105412474_105412476delGCC						CXXC4_ENST00000466963.1_Intron|AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000426831.1_5'UTR	p.G165del	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)	2	943_945	-			0			Interaction with DVL1 (By similarity).			In_Frame_Del	DEL	ENST00000426831.1	37	c.493_495delGGC																																																																																					0.695	CXXC4-201	KNOWN	basic	protein_coding	protein_coding		NM_025212		8	512						8	512	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-	rs150581210		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr4:146077123_146077125delCAG	ENST00000447906.2	-	8	840_842	c.653_655delCTG	c.(652-657)gctgat>gat	p.A218del	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_In_Frame_Del_p.A153del			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(457-462)gat>g		OTU domain containing 4																																				SO:0001651	inframe_deletion	54726						protein binding	g.chr4:146077123_146077125delCAG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653_655delCTG	4.37:g.146077132_146077134delCAG	ENSP00000395487:p.Ala218del					OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	p.AD153del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			8	595_597	-	all_hematologic(180;0.151)		218			OTU.		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	In_Frame_Del	DEL	ENST00000447906.2	37	c.458_460delCTG																																																																																					0.340	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		8	338						8	338	---	---	---	---
IRX4	50805	broad.mit.edu	37	5	1879669	1879671	+	In_Frame_Del	DEL	CCT	CCT	-	rs561786759|rs369060686|rs200684951		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr5:1879669_1879671delCCT	ENST00000505790.1	-	5	1139_1141	c.683_685delAGG	c.(682-687)gagggg>ggg	p.E228del	IRX4_ENST00000231357.2_In_Frame_Del_p.E228del|IRX4_ENST00000513692.1_In_Frame_Del_p.E228del|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	228	Poly-Glu.				establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.685																																						ENST00000505790.1																			0				endometrium(1)|lung(7)|ovary(1)|prostate(1)	10						c.(682-687)ggg>g		iroquois homeobox 4																																				SO:0001651	inframe_deletion	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1879669_1879671delCCT	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.683_685delAGG	5.37:g.1879678_1879680delCCT	ENSP00000423161:p.Glu228del					IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del	p.EG228del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	5	1139_1141	-			228			Poly-Glu.		B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	In_Frame_Del	DEL	ENST00000505790.1	37	c.683_685delAGG	CCDS3867.1																																																																																				0.685	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		9	330						9	330	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24492973	24492973	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr5:24492973delA	ENST00000264463.4	-	10	2084	c.1577delT	c.(1576-1578)ttcfs	p.F526fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTAAACTGAAAAAAAATTT	0.313										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(1576-1578)tcfs		cadherin 10, type 2 (T2-cadherin)							170.0	183.0	179.0					5																	24492973		2203	4298	6501	SO:0001589	frameshift_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24492973delA	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1577delT	5.37:g.24492973delA	ENSP00000264463:p.Phe526fs	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.F526fs	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	10	2084	-			526			Cadherin 5.		Q9ULB3	Frame_Shift_Del	DEL	ENST00000264463.4	37	c.1577delT	CCDS3892.1																																																																																				0.313	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		7	764						7	764	---	---	---	---
KCNN2	3781	broad.mit.edu	37	5	113698631	113698632	+	In_Frame_Ins	INS	-	-	GCC	rs151038013|rs111266015|rs76852708|rs34641516		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr5:113698631_113698632insGCC	ENST00000512097.3	+	2	1177_1178	c.159_160insGCC	c.(160-162)gcc>GCCgcc	p.54_54A>AA	KCNN2_ENST00000264773.3_In_Frame_Ins_p.54_54A>AA			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	54	Poly-Ala.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	CTGCAGCCGCTGCCGCCGCCGC	0.703																																						ENST00000512097.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(157-162)gcccgc>gcGCCccgc		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2				1003,2377		300,403,987						-5.9	0.0		dbSNP_126	7	2590,4184		804,982,1601	no	coding	KCNN2	NM_021614.2		1104,1385,2588	A1A1,A1R,RR		38.2344,29.6746,35.3851				3593,6561				SO:0001652	inframe_insertion	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113698631_113698632insGCC	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.169_171dupGCC	5.37:g.113698638_113698640dupGCC	ENSP00000427120:p.Ala58dup					KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR	p.53_54AR>APR			Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	2	1177_1178	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	53			Poly-Ala.		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	In_Frame_Ins	INS	ENST00000512097.3	37	c.159_160insGCC	CCDS4114.1																																																																																				0.703	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		29	67						29	67	---	---	---	---
DND1	373863	broad.mit.edu	37	5	140052285	140052285	+	Frame_Shift_Del	DEL	T	T	-	rs375722663	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr5:140052285delT	ENST00000542735.1	-	3	392	c.349delA	c.(349-351)acgfs	p.T117fs		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	117	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of gene silencing by miRNA (GO:0060965)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)	p.T117fs*24(1)		central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTGCAGCGTGGCGATGGCG	0.682													T|T|-|deletion	29	0.00579073	0.0	0.0173	5008	,	,		10844	0.002		0.0139	False		,,,				2504	0.001					ENST00000542735.1																			1	Deletion - Frameshift(1)	p.T117fs*24(1)	central_nervous_system(1)	central_nervous_system(1)|prostate(4)	5						c.(349-351)cgfs		DND microRNA-mediated repression inhibitor 1							6.0	7.0	6.0					5																	140052285		2084	4099	6183	SO:0001589	frameshift_variant	373863				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding	g.chr5:140052285delT	AY321065	CCDS4236.1	5q31.3	2013-07-31	2013-07-31		ENSG00000256453	ENSG00000256453		"""RNA binding motif (RRM) containing"""	23799	protein-coding gene	gene with protein product		609385	"""dead end homolog 1 (zebrafish)"""			12932328	Standard	NM_194249		Approved	MGC34750, RBMS4	uc003lgt.3	Q8IYX4	OTTHUMG00000129499	ENST00000542735.1:c.349delA	5.37:g.140052285delT	ENSP00000445366:p.Thr117fs						p.T117fs	NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	392	-			117			RRM 1.			Frame_Shift_Del	DEL	ENST00000542735.1	37	c.349delA	CCDS4236.1																																																																																				0.682	DND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251669.2	NM_194249		8	57						8	57	---	---	---	---
BNIP1	662	broad.mit.edu	37	5	172578611	172578611	+	Intron	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr5:172578611delT	ENST00000351486.5	+	3	208				BNIP1_ENST00000231668.9_Frame_Shift_Del_p.F76fs|BNIP1_ENST00000393770.4_Intron|BNIP1_ENST00000352523.6_Frame_Shift_Del_p.F76fs	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1						apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGCTTCCACATTTTTTTTTAA	0.348																																						ENST00000231668.9																			0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11						c.(220-222)ttfs		BCL2/adenovirus E1B 19kDa interacting protein 1			,,,	16,4248		4,8,2120	126.0	120.0	122.0		,,,	-3.2	0.0	5		123	29,8225		6,17,4104	no	frameshift,frameshift,intron,intron	BNIP1	NM_013980.2,NM_013979.2,NM_013978.2,NM_001205.2	,,,	10,25,6224	A1A1,A1R,RR		0.3513,0.3752,0.3595	,,,	,,,	172578611	45,12473	2203	4300	6503	SO:0001627	intron_variant	662				anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding	g.chr5:172578611delT	AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"""BCL2/adenovirus E1B 19kD-interacting protein 1"""			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.178-2714T>-	5.37:g.172578611delT						BNIP1_ENST00000351486.5_Intron|BNIP1_ENST00000352523.6_Frame_Shift_Del_p.F76fs|BNIP1_ENST00000393770.4_Intron	p.F76fs	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		3	324	+	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	59					D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Frame_Shift_Del	DEL	ENST00000351486.5	37	c.220delT	CCDS4384.1																																																																																				0.348	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252939.1	NM_013979		11	394						11	394	---	---	---	---
HLA-F	3134	broad.mit.edu	37	6	29694802	29694803	+	IGR	INS	-	-	T	rs17875385		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr6:29694802_29694803insT	ENST00000376861.1	+	0	1544				HLA-F_ENST00000440587.2_Intron|HLA-F_ENST00000259951.7_Frame_Shift_Ins_p.F394fs|HLA-F_ENST00000475996.1_Intron			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGTGGATCTTGTTTTTTTTGTG	0.535																																						ENST00000259951.7																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(1177-1182)ttttttfs		major histocompatibility complex, class I, F				16,3332		2,12,1660						-0.3	0.3		dbSNP_124	229	17,6555		4,9,3273	no	frameshift	HLA-F	NM_001098479.1		6,21,4933	A1A1,A1R,RR		0.2587,0.4779,0.3327				33,9887				SO:0001628	intergenic_variant	3134				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29694802_29694803insT	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156		6.37:g.29694810_29694810dupT						HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000440587.2_Intron	p.FF393fs	NM_001098479.1	NP_001091949.1	P30511	HLAF_HUMAN			7	1235_1236	+			0					Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Frame_Shift_Ins	INS	ENST00000376861.1	37	c.1179_1180insT	CCDS43438.1																																																																																				0.535	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950		25	1440						25	1440	---	---	---	---
HCG17	414778	broad.mit.edu	37	6	30227483	30227483	+	lincRNA	DEL	G	G	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr6:30227483delG	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA					HLA complex group 17 (non-protein coding)																		CGGTGAGTGCGGGGTCGGGAG	0.731																																						ENST00000453558.1																			0																																																			0							g.chr6:30227483delG	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.30227483delG						HLA-L_ENST00000463348.1_RNA								0	126	-									RNA	DEL	ENST00000453558.1	37																																																																																						0.731	HCG17-002	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000256054.1	NR_052012		10	128						10	128	---	---	---	---
MLLT4	4301	broad.mit.edu	37	6	168352796	168352798	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr6:168352796_168352798delGAG	ENST00000447894.2	+	29	4741_4743	c.4741_4743delGAG	c.(4741-4743)gagdel	p.E1584del	MLLT4_ENST00000344191.4_In_Frame_Del_p.E1584del|MLLT4_ENST00000392108.3_In_Frame_Del_p.E1584del|MLLT4_ENST00000351017.4_In_Frame_Del_p.E1591del|MLLT4_ENST00000366806.2_In_Frame_Del_p.E1584del|MLLT4_ENST00000392112.1_In_Frame_Del_p.E1567del|MLLT4_ENST00000400822.3_In_Frame_Del_p.E1583del			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1584	Asp/Glu-rich (acidic).				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		cgaagatgacgaggaggaggagg	0.606			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4741-4743)del		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4																																				SO:0001651	inframe_deletion	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168352796_168352798delGAG	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4741_4743delGAG	6.37:g.168352805_168352807delGAG	ENSP00000404595:p.Glu1584del					MLLT4_ENST00000392108.3_In_Frame_Del_p.E1584del|MLLT4_ENST00000392112.1_In_Frame_Del_p.E1567del|MLLT4_ENST00000351017.4_In_Frame_Del_p.E1591del|MLLT4_ENST00000447894.2_In_Frame_Del_p.E1584del|MLLT4_ENST00000344191.4_In_Frame_Del_p.E1584del|MLLT4_ENST00000400822.3_In_Frame_Del_p.E1583del	p.E1584del			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	30	4883_4885	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1584			Asp/Glu-rich (acidic).		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	In_Frame_Del	DEL	ENST00000447894.2	37	c.4741_4743delGAG																																																																																					0.606	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		7	458						7	458	---	---	---	---
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC	rs3837151|rs3779607	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)cccagc>cccGGCagc	p.389_390PS>PGS	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389			S -> G (in dbSNP:rs3779607). {ECO:0000269|PubMed:15489334}.		germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1165-1170)ccgcgg>ccGGCgcgg		transmembrane protein 184A				1912,2170		535,842,664						-3.6	0.0		dbSNP_132	17	3872,4214		1028,1816,1199	no	coding	TMEM184A	NM_001097620.1		1563,2658,1863	A1A1,A1R,RR		47.8852,46.8398,47.5345				5784,6384				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586662_1586663insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1167_1168insGGC	7.37:g.1586662_1586663insGCC	ENSP00000297477:p.Pro389_Ser390insGly						p.389_390PR>PAR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1483_1484	-		Ovarian(82;0.0253)	389					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1167_1168insGGC	CCDS43537.1																																																																																				0.703	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		13	168						13	168	---	---	---	---
PMS2CL	441194	broad.mit.edu	37	7	6771664	6771664	+	RNA	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr7:6771664delT	ENST00000486256.1	+	0	619					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		GGATTCCTACttttttttttc	0.413																																						ENST00000486256.1																			0																																																			0							g.chr7:6771664delT	BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6771664delT								NR_002217.1						0	619	+								B4DK88|Q764P1	RNA	DEL	ENST00000486256.1	37																																																																																						0.413	PMS2CL-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000324193.1	NR_002217		7	270						7	270	---	---	---	---
MPP6	51678	broad.mit.edu	37	7	24705666	24705666	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr7:24705666delA	ENST00000222644.5	+	8	1160	c.910delA	c.(910-912)aaafs	p.K308fs	MPP6_ENST00000396475.2_Frame_Shift_Del_p.K308fs|MPP6_ENST00000409761.1_Frame_Shift_Del_p.K196fs			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TATAAGTAGCAAAAAAAAGAA	0.299																																						ENST00000396475.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						c.(910-912)aafs		membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)							88.0	103.0	98.0					7																	24705666		2198	4295	6493	SO:0001589	frameshift_variant	51678				protein complex assembly		protein binding	g.chr7:24705666delA	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.910delA	7.37:g.24705666delA	ENSP00000222644:p.Lys308fs					MPP6_ENST00000409761.1_Frame_Shift_Del_p.K196fs|MPP6_ENST00000222644.4_Frame_Shift_Del_p.K308fs	p.K308fs	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN			9	1209	+			308					B2RAF0	Frame_Shift_Del	DEL	ENST00000222644.5	37	c.910delA	CCDS5388.1																																																																																				0.299	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4			8	567						8	567	---	---	---	---
TYW1B	441250	broad.mit.edu	37	7	72159821	72159821	+	RNA	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr7:72159821delT	ENST00000435769.2	-	0	1494				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000343721.5_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										TCCTTAGTAATTTTTTTTTTT	0.388																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							44.0	37.0	39.0					7																	72159821		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72159821delT	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72159821delT										Q6NUM6	TYW1B_HUMAN			0	984	-								A6NG09|B4DFY2|Q3KQX2	RNA	DEL	ENST00000435769.2	37																																																																																						0.388	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		17	263						17	263	---	---	---	---
GTF2IRD2P1	401375	broad.mit.edu	37	7	72683455	72683456	+	RNA	INS	-	-	T	rs556745507	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr7:72683455_72683456insT	ENST00000425256.1	-	0	120									GTF2I repeat domain containing 2 pseudogene 1																		CGTTCTACCAgtttttttttgt	0.441													|||unknown(NO_COVERAGE)	44	0.00878594	0.0325	0.0014	5008	,	,		20043	0.0		0.0	False		,,,				2504	0.0					ENST00000425256.1																			0																																																			0							g.chr7:72683455_72683456insT	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72683464_72683464dupT								NR_002164.1						0	120	-									RNA	INS	ENST00000425256.1	37																																																																																						0.441	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		8	365						8	365	---	---	---	---
STX1A	6804	broad.mit.edu	37	7	73123425	73123427	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr7:73123425_73123427delCAT	ENST00000222812.3	-	2	82_84	c.56_58delATG	c.(55-60)gatgtc>gtc	p.D19del	STX1A_ENST00000395154.3_In_Frame_Del_p.D19del|MIR4284_ENST00000578924.1_RNA|STX1A_ENST00000395155.3_In_Frame_Del_p.D19del|STX1A_ENST00000395156.3_In_Frame_Del_p.D19del	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	19					calcium ion-dependent exocytosis (GO:0017156)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of insulin secretion (GO:0050796)|response to gravity (GO:0009629)|secretion by cell (GO:0032940)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)	actomyosin (GO:0042641)|cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synaptic vesicle membrane (GO:0030672)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)	calcium channel inhibitor activity (GO:0019855)			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				GTGACAGCGACATCATCATCATC	0.586																																						ENST00000222812.3																			0				large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(55-60)gtc>g		syntaxin 1A (brain)																																				SO:0001651	inframe_deletion	6804				energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity	g.chr7:73123425_73123427delCAT		CCDS34655.1, CCDS55120.1	7q11.2	2008-07-18			ENSG00000106089	ENSG00000106089			11433	protein-coding gene	gene with protein product		186590		STX1		1321498	Standard	NM_001165903		Approved	HPC-1, p35-1	uc003tyx.3	Q16623	OTTHUMG00000137422	ENST00000222812.3:c.56_58delATG	7.37:g.73123434_73123436delCAT	ENSP00000222812:p.Asp19del					STX1A_ENST00000395154.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395155.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395156.3_In_Frame_Del_p.DV19del	p.DV19del	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN			2	82_84	-		Lung NSC(55;0.0908)|all_lung(88;0.198)	19					O15447|O15448|Q12936|Q75MD9|Q7Z5K3|Q9BPZ6	In_Frame_Del	DEL	ENST00000222812.3	37	c.56_58delATG	CCDS34655.1																																																																																				0.586	STX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268422.1	NM_004603		7	751						7	751	---	---	---	---
DTX2	113878	broad.mit.edu	37	7	76112249	76112249	+	Frame_Shift_Del	DEL	A	A	-	rs147779783	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr7:76112249delA	ENST00000324432.5	+	5	1203	c.693delA	c.(691-693)ccafs	p.P231fs	DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	231					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						AGCACCCCCCACACAGGACCG	0.657																																						ENST00000324432.5																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						c.(691-693)ccfs		deltex homolog 2 (Drosophila)							125.0	130.0	128.0					7																	76112249		2203	4300	6503	SO:0001589	frameshift_variant	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76112249delA		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.693delA	7.37:g.76112249delA	ENSP00000322885:p.Pro231fs					DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs	p.P231fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN			5	1203	+			231					Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Frame_Shift_Del	DEL	ENST00000324432.5	37	c.693delA	CCDS5587.1																																																																																				0.657	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			7	2287						7	2287	---	---	---	---
SRPK2	6733	broad.mit.edu	37	7	104844170	104844172	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr7:104844170_104844172delGGT	ENST00000393651.3	-	3	219_221	c.132_134delACC	c.(130-135)ccaccg>ccg	p.44_45PP>P	SRPK2_ENST00000489828.1_In_Frame_Del_p.33_34PP>P|SRPK2_ENST00000357311.3_In_Frame_Del_p.33_34PP>P	NM_182692.1	NP_872634.1			SRSF protein kinase 2									p.P33P(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						CAAAggtggcggtggtggtggtg	0.552																																						ENST00000357311.3																			1	Substitution - coding silent(1)	p.P33P(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						c.(97-102)ccg>cc		SRSF protein kinase 2																																				SO:0001651	inframe_deletion	6733				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr7:104844170_104844172delGGT	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.132_134delACC	7.37:g.104844179_104844181delGGT	ENSP00000377262:p.Pro47del					SRPK2_ENST00000393651.3_In_Frame_Del_p.PP46del|SRPK2_ENST00000489828.1_In_Frame_Del_p.PP35del	p.PP35del	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN			2	270_272	-			35						In_Frame_Del	DEL	ENST00000393651.3	37	c.99_101delACC	CCDS34724.1																																																																																				0.552	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691		7	191						7	191	---	---	---	---
FOXP2	93986	broad.mit.edu	37	7	114270016	114270018	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr7:114270016_114270018delCAG	ENST00000393494.2	+	5	832_834	c.553_555delCAG	c.(553-555)cagdel	p.Q191del	AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393500.3_In_Frame_Del_p.Q116del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del			O15409	FOXP2_HUMAN	forkhead box P2	191	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						gcagcagcaacagcagcagcagc	0.507																																						ENST00000393500.3																			2	Substitution - coding silent(2)	p.Q210Q(2)	lung(2)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(328-330)del		forkhead box P2																																				SO:0001651	inframe_deletion	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270016_114270018delCAG	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.553_555delCAG	7.37:g.114270025_114270027delCAG	ENSP00000377132:p.Gln191del					FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del	p.Q116del			O15409	FOXP2_HUMAN			11	1148_1150	+			191			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	In_Frame_Del	DEL	ENST00000393494.2	37	c.328_330delCAG	CCDS5760.1																																																																																				0.507	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		9	397						9	397	---	---	---	---
KCND2	3751	broad.mit.edu	37	7	119915596	119915597	+	Frame_Shift_Ins	INS	-	-	C	rs143247237|rs78382816		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr7:119915596_119915597insC	ENST00000331113.4	+	1	1875_1876	c.910_911insC	c.(910-912)tccfs	p.S304fs		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	304					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CTTTAAGTTTTCCCGCCACTCT	0.52																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(910-912)ccgfs		potassium voltage-gated channel, Shal-related subfamily, member 2																																				SO:0001589	frameshift_variant	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915596_119915597insC	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.913dupC	7.37:g.119915599_119915599dupC	ENSP00000333496:p.Ser304fs						p.P304fs	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			1	1875_1876	+	all_neural(327;0.117)		304					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Frame_Shift_Ins	INS	ENST00000331113.4	37	c.910_911insC	CCDS5776.1																																																																																				0.520	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		8	334						8	334	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142481743	142481745	+	RNA	DEL	CTA	CTA	-	rs587750077|rs376315825	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr7:142481743_142481745delCTA	ENST00000603901.1	+	0	454					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										ACCCACATTTCTACTTTCTTTAT	0.517																																						ENST00000603901.1																			0																																																			0							g.chr7:142481743_142481745delCTA			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481743_142481745delCTA								NR_001296.3						0	454	+									RNA	DEL	ENST00000603901.1	37																																																																																						0.517	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		15	8						15	8	---	---	---	---
TDRP	157695	broad.mit.edu	37	8	442574	442574	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr8:442574delC	ENST00000324079.6	-	3	623	c.383delG	c.(382-384)ggtfs	p.G129fs	TDRP_ENST00000427263.2_Frame_Shift_Del_p.G129fs|TDRP_ENST00000523656.1_Frame_Shift_Del_p.G129fs|TDRP_ENST00000524229.1_5'Flank			Q86YL5	TDRP_HUMAN	testis development related protein	129					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TGGGTGGCCACCCACGGTGTC	0.552																																						ENST00000324079.6																			0											c.(382-384)gtfs		testis development related protein							42.0	49.0	47.0					8																	442574		1912	4116	6028	SO:0001589	frameshift_variant	157695							g.chr8:442574delC	AY194292	CCDS47759.1, CCDS59090.1	8p23.3	2013-06-03	2013-06-03	2013-06-03	ENSG00000180190	ENSG00000180190			26951	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 42"""	C8orf42		20170638	Standard	NM_175075		Approved	INM01, TDRP1, TDRP2		Q86YL5	OTTHUMG00000163593	ENST00000324079.6:c.383delG	8.37:g.442574delC	ENSP00000315111:p.Gly129fs					TDRP_ENST00000523656.1_Frame_Shift_Del_p.G129fs|TDRP_ENST00000427263.2_Frame_Shift_Del_p.G129fs	p.G129fs							3	623	-								B6VF03|B9EG53	Frame_Shift_Del	DEL	ENST00000324079.6	37	c.383delG	CCDS47759.1																																																																																				0.552	TDRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374442.1	NM_175075		63	107						63	107	---	---	---	---
FAM66B	100128890	broad.mit.edu	37	8	7191540	7191541	+	lincRNA	DEL	CA	CA	-	rs376658666		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr8:7191540_7191541delCA	ENST00000606573.1	-	0	703									family with sequence similarity 66, member B																		GGGGTGcacgcacacacacaca	0.53																																						ENST00000606573.1																			0																																																			0							g.chr8:7191540_7191541delCA			8p23.1	2013-07-05			ENSG00000215374	ENSG00000215374		"""Long non-coding RNAs"""	28890	non-coding RNA	RNA, long non-coding							Standard	NR_027423		Approved				OTTHUMG00000165383		8.37:g.7191550_7191551delCA														0	703	-									RNA	DEL	ENST00000606573.1	37																																																																																						0.530	FAM66B-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470344.1	NR_027423		16	224						16	224	---	---	---	---
USP17L2	377630	broad.mit.edu	37	8	11994579	11994580	+	IGR	DEL	TG	TG	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr8:11994579_11994580delTG	ENST00000333796.3	-	0	1910				FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2						apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TGTTCgtgtttgtgtgtgtgtg	0.505																																						ENST00000434078.2																			0																																																	SO:0001628	intergenic_variant	0							g.chr8:11994579_11994580delTG	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295		8.37:g.11994589_11994590delTG								NR_027425.1						0	608	+									RNA	DEL	ENST00000333796.3	37		CCDS43713.1																																																																																				0.505	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		8	179						8	179	---	---	---	---
KAT6A	7994	broad.mit.edu	37	8	41798420	41798422	+	In_Frame_Del	DEL	CTC	CTC	-	rs139076845		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr8:41798420_41798422delCTC	ENST00000396930.3	-	16	3520_3522	c.2977_2979delGAG	c.(2977-2979)gagdel	p.E993del	KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del|KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	993	Poly-Glu.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GGCTTTCCGGCTCCTCCTCCTCC	0.567																																						ENST00000396930.3																			0											c.(2977-2979)del		K(lysine) acetyltransferase 6A																																				SO:0001651	inframe_deletion	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41798420_41798422delCTC	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2977_2979delGAG	8.37:g.41798429_41798431delCTC	ENSP00000380136:p.Glu993del					KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del|KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del	p.E993del	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			16	3520_3522	-			993			Poly-Glu.		Q76L81	In_Frame_Del	DEL	ENST00000396930.3	37	c.2977_2979delGAG	CCDS6124.1																																																																																				0.567	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		15	1051						15	1051	---	---	---	---
ZNF704	619279	broad.mit.edu	37	8	81733713	81733713	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr8:81733713delT	ENST00000327835.3	-	2	348	c.117delA	c.(115-117)aaafs	p.K39fs		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	39							metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TCCGGCTGGCTTTTTTGGTGT	0.428																																						ENST00000327835.3																			0				lung(9)|skin(1)|upper_aerodigestive_tract(1)	11						c.(115-117)aafs		zinc finger protein 704							329.0	308.0	315.0					8																	81733713		2203	4300	6503	SO:0001589	frameshift_variant	619279					intracellular	zinc ion binding	g.chr8:81733713delT	AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.117delA	8.37:g.81733713delT	ENSP00000331462:p.Lys39fs						p.K39fs	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)		2	348	-	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		39					B2RNE6|B9EGW6	Frame_Shift_Del	DEL	ENST00000327835.3	37	c.117delA	CCDS34913.1																																																																																				0.428	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2	NM_001033723		9	2369						9	2369	---	---	---	---
PABPC1	26986	broad.mit.edu	37	8	101724994	101724995	+	Frame_Shift_Ins	INS	-	-	A	rs140822921		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr8:101724994_101724995insA	ENST00000318607.5	-	6	1889_1890	c.761_762insT	c.(760-762)aagfs	p.K254fs	PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.K222fs|PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.K209fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	254	CSDE1-binding.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CATTGAGCTCCTTTCCGTTCAT	0.371																																						ENST00000318607.5																			0				breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40						c.(760-762)agafs		poly(A) binding protein, cytoplasmic 1																																				SO:0001589	frameshift_variant	26986				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity	g.chr8:101724994_101724995insA	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.761_762insT	8.37:g.101724994_101724995insA	ENSP00000313007:p.Lys254fs					PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.R222fs|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.R209fs	p.R254fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)		6	1889_1890	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		254			CSDE1-binding.|RRM 3.		Q15097|Q93004	Frame_Shift_Ins	INS	ENST00000318607.5	37	c.761_762insT	CCDS6289.1																																																																																				0.371	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		13	455						13	455	---	---	---	---
KCNQ3	3786	broad.mit.edu	37	8	133150232	133150233	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr8:133150232_133150233insT	ENST00000388996.4	-	12	2019_2020	c.1599_1600insA	c.(1597-1602)aaattcfs	p.F534fs	KCNQ3_ENST00000521134.1_Frame_Shift_Ins_p.F414fs|KCNQ3_ENST00000519445.1_Frame_Shift_Ins_p.F534fs	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	534					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.F534I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GTCTCCTTGAATTTTTTTTTAT	0.455																																						ENST00000388996.4																			1	Substitution - Missense(1)	p.F534I(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(1597-1602)aatcaafs		potassium voltage-gated channel, KQT-like subfamily, member 3																																				SO:0001589	frameshift_variant	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133150232_133150233insT	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1600dupA	8.37:g.133150241_133150241dupT	ENSP00000373648:p.Phe534fs					KCNQ3_ENST00000519445.1_Frame_Shift_Ins_p.NQ533fs|KCNQ3_ENST00000521134.1_Frame_Shift_Ins_p.NQ413fs	p.NQ533fs	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		12	2019_2020	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		533					A2VCT8|B4DJY4|E7EQ89	Frame_Shift_Ins	INS	ENST00000388996.4	37	c.1599_1600insA	CCDS34943.1																																																																																				0.455	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		9	923						9	923	---	---	---	---
TSNARE1	203062	broad.mit.edu	37	8	143310866	143310868	+	In_Frame_Del	DEL	GAT	GAT	-	rs142964918|rs577569567		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr8:143310866_143310868delGAT	ENST00000307180.3	-	13	1636_1638	c.1519_1521delATC	c.(1519-1521)atcdel	p.I507del	TSNARE1_ENST00000520166.1_In_Frame_Del_p.I507del|TSNARE1_ENST00000524325.1_In_Frame_Del_p.I506del	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	507	Poly-Ile.				intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CAGAGGTGGCGATGATGATGATG	0.512																																						ENST00000524325.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20						c.(1516-1518)del		t-SNARE domain containing 1																																				SO:0001651	inframe_deletion	203062				vesicle-mediated transport	integral to membrane		g.chr8:143310866_143310868delGAT			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.1519_1521delATC	8.37:g.143310875_143310877delGAT	ENSP00000303437:p.Ile507del					TSNARE1_ENST00000307180.3_In_Frame_Del_p.I507del|TSNARE1_ENST00000520166.1_In_Frame_Del_p.I507del	p.I506del			Q96NA8	TSNA1_HUMAN			13	1691_1693	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		507			Poly-Ile.		B7ZLB0|Q14D03	In_Frame_Del	DEL	ENST00000307180.3	37	c.1516_1518delATC	CCDS6384.1																																																																																				0.512	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		8	454						8	454	---	---	---	---
LURAP1L	286343	broad.mit.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	-	GGCGGCGGC	rs3833707|rs139315731		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr9:12775861_12775862insGGCGGCGGC	ENST00000319264.3	+	1	842_843	c.147_148insGGCGGCGGC	c.(148-150)ggc>GGCGGCGGCggc	p.50_50G>GGGG	LURAP1L_ENST00000489107.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA	NM_203403.1	NP_981948.1	Q8IV03	LUR1L_HUMAN	leucine rich adaptor protein 1-like	53	Gly-rich.							p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688																																						ENST00000319264.3																			3	Insertion - In frame(2)|Deletion - In frame(1)	p.G49_G50insGGG(2)|p.G50_G52delGGG(1)	large_intestine(1)|prostate(1)|central_nervous_system(1)								c.(145-150)gggcgg>ggGGCGGCGGCgcgg		leucine rich adaptor protein 1-like																																				SO:0001652	inframe_insertion	286343							g.chr9:12775861_12775862insGGCGGCGGC	AK095824	CCDS6473.1	9p22.3	2012-02-01	2012-02-01	2012-02-01	ENSG00000153714	ENSG00000153714			31452	protein-coding gene	gene with protein product	"""similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed"""		"""chromosome 9 open reading frame 150"""	C9orf150		12766061	Standard	NM_203403		Approved	MGC46502, FLJ38505, bA3L8.2	uc003zkw.3	Q8IV03	OTTHUMG00000019557	ENST00000319264.3:c.157_165dupGGCGGCGGC	9.37:g.12775862_12775870dupGGCGGCGGC	ENSP00000321026:p.GlyGlyGly53dup					RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR	p.49_50GR>GAAAR	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN			1	842_843	+			49		Missing.	Gly-rich.		Q5VZX7|Q8N923|Q8NCG2	In_Frame_Ins	INS	ENST00000319264.3	37	c.147_148insGGCGGCGGC	CCDS6473.1																																																																																				0.688	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051730.1	NM_203403		29	34						29	34	---	---	---	---
DAB2IP	153090	broad.mit.edu	37	9	124522389	124522391	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr9:124522389_124522391delAAG	ENST00000408936.3	+	6	1023_1025	c.841_843delAAG	c.(841-843)aagdel	p.K285del	DAB2IP_ENST00000309989.1_In_Frame_Del_p.K161del|DAB2IP_ENST00000259371.2_In_Frame_Del_p.K257del			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	285	C2.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GGAGACCGACAAGAAGAAGAAGA	0.601																																						ENST00000408936.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(841-843)del		DAB2 interacting protein																																				SO:0001651	inframe_deletion	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124522389_124522391delAAG	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.841_843delAAG	9.37:g.124522398_124522400delAAG	ENSP00000386183:p.Lys285del					DAB2IP_ENST00000259371.2_In_Frame_Del_p.K257del|DAB2IP_ENST00000309989.1_In_Frame_Del_p.K161del	p.K285del			Q5VWQ8	DAB2P_HUMAN			6	1023_1025	+			285			C2.		A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	In_Frame_Del	DEL	ENST00000408936.3	37	c.841_843delAAG																																																																																					0.601	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		7	413						7	413	---	---	---	---
REXO4	57109	broad.mit.edu	37	9	136282859	136282859	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr9:136282859delT	ENST00000371942.3	-	1	305	c.106delA	c.(106-108)aggfs	p.R36fs	REXO4_ENST00000371935.2_Frame_Shift_Del_p.R36fs|REXO4_ENST00000478037.1_5'UTR|ADAMTS13_ENST00000485925.1_Intron	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	36					regulation of transcription, DNA-templated (GO:0006355)	nucleolus (GO:0005730)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		TTCCAAAACCTTTTTTTCTTC	0.572																																						ENST00000371942.3																			0				kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(106-108)ggfs		REX4, RNA exonuclease 4 homolog (S. cerevisiae)							90.0	98.0	95.0					9																	136282859		2203	4300	6503	SO:0001589	frameshift_variant	57109					nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity	g.chr9:136282859delT	AF273304	CCDS6969.1, CCDS65179.1	9q34	2008-02-05	2005-08-22	2005-08-22	ENSG00000148300	ENSG00000148300			12820	protein-coding gene	gene with protein product		602930	"""Xenopus prevents mitotic catatrophe 2 homolog"", ""XPMC2 prevents mitotic catastrophe 2 homolog (Xenopus laevis)"""	XPMC2H		9325058	Standard	NM_020385		Approved		uc004cdm.3	Q9GZR2	OTTHUMG00000020870	ENST00000371942.3:c.106delA	9.37:g.136282859delT	ENSP00000361010:p.Arg36fs					REXO4_ENST00000478037.1_5'UTR|ADAMTS13_ENST00000485925.1_Intron|REXO4_ENST00000371935.2_Frame_Shift_Del_p.R36fs	p.R36fs	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)	1	305	-			36					B2RAT2|Q5T8S4|Q5T8S5|Q5T8S6|Q9GZW3	Frame_Shift_Del	DEL	ENST00000371942.3	37	c.106delA	CCDS6969.1																																																																																				0.572	REXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054899.1			7	972						7	972	---	---	---	---
EBLN1	340900	broad.mit.edu	37	10	22498484	22498485	+	In_Frame_Ins	INS	-	-	AGA	rs3059425|rs202062346|rs67043646	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr10:22498484_22498485insAGA	ENST00000422359.2	-	1	465_466	c.428_429insTCT	c.(427-429)ctg>ctTCTg	p.143_143L>LL		NM_001199938.1	NP_001186867.1	P0CF75	EBLN1_HUMAN	endogenous Bornavirus-like nucleoprotein 1	143																	CAATGCCTATCAGATCACAGCA	0.455														1648	0.329073	0.6135	0.3184	5008	,	,		21634	0.2192		0.2535	False		,,,				2504	0.1431					ENST00000422359.2																			0											c.(427-429)cat>cTCTat		endogenous Bornavirus-like nucleoprotein 1																																				SO:0001652	inframe_insertion	340900							g.chr10:22498484_22498485insAGA	AA813437	CCDS60498.1	10p12.31	2013-01-30			ENSG00000223601	ENSG00000223601			39430	protein-coding gene	gene with protein product	"""endogenous Borna-like N element 1"""	613249				20054395, 20686665	Standard	NM_001199938		Approved		uc021pob.1	P0CF75	OTTHUMG00000017801	ENST00000422359.2:c.426_428dupTCT	10.37:g.22498485_22498487dupAGA	ENSP00000473842:p.Leu143dup						p.143_143H>LY	NM_001199938.1	NP_001186867.1					1	465_466	-								S4R316	In_Frame_Ins	INS	ENST00000422359.2	37	c.428_429insTCT																																																																																					0.455	EBLN1-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047154.3	NM_001199938		24	22						24	22	---	---	---	---
MYO3A	53904	broad.mit.edu	37	10	26462760	26462760	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr10:26462760delA	ENST00000265944.5	+	30	3733	c.3567delA	c.(3565-3567)ccafs	p.P1189fs	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1189					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.M1192fs*1(2)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATCAGACTCCAAAAAAAATGA	0.403																																						ENST00000265944.5																			2	Deletion - Frameshift(2)	p.M1192fs*1(2)	ovary(1)|large_intestine(1)	NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(3565-3567)ccfs		myosin IIIA							67.0	66.0	67.0					10																	26462760		2203	4300	6503	SO:0001589	frameshift_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26462760delA	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3567delA	10.37:g.26462760delA	ENSP00000265944:p.Pro1189fs					MYO3A_ENST00000543632.1_Intron	p.P1189fs	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			30	3733	+			1189					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Frame_Shift_Del	DEL	ENST00000265944.5	37	c.3567delA	CCDS7148.1																																																																																				0.403	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		7	343						7	343	---	---	---	---
ARID5B	84159	broad.mit.edu	37	10	63852298	63852298	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr10:63852298delA	ENST00000279873.7	+	10	3486	c.3076delA	c.(3076-3078)aaafs	p.K1027fs	ARID5B_ENST00000309334.5_Frame_Shift_Del_p.K784fs	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1027					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GATTGCAGGGAAAAAGGCCCG	0.607																																						ENST00000279873.7																			0				NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(3076-3078)aafs		AT rich interactive domain 5B (MRF1-like)							66.0	75.0	72.0					10																	63852298		2203	4300	6503	SO:0001589	frameshift_variant	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63852298delA	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.3076delA	10.37:g.63852298delA	ENSP00000279873:p.Lys1027fs					ARID5B_ENST00000309334.5_Frame_Shift_Del_p.K784fs	p.K1027fs	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN			10	3486	+	Prostate(12;0.016)|all_hematologic(501;0.215)		1027					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Frame_Shift_Del	DEL	ENST00000279873.7	37	c.3076delA	CCDS31208.1																																																																																				0.607	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		7	803						7	803	---	---	---	---
PAX2	5076	broad.mit.edu	37	10	102587323	102587324	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr10:102587323_102587324insC	ENST00000428433.1	+	11	1751_1752	c.1201_1202insC	c.(1201-1203)gccfs	p.A401fs	PAX2_ENST00000556085.1_Frame_Shift_Ins_p.A377fs|PAX2_ENST00000370296.2_3'UTR|PAX2_ENST00000355243.3_Frame_Shift_Ins_p.A378fs|PAX2_ENST00000361791.3_3'UTR	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	401					aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|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 (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TTATAGTGCCGCCCCCCGGGGC	0.569																																						ENST00000428433.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(1201-1203)cccfs		paired box 2																																				SO:0001589	frameshift_variant	5076				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	g.chr10:102587323_102587324insC		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.1207dupC	10.37:g.102587329_102587329dupC	ENSP00000396259:p.Ala401fs					PAX2_ENST00000355243.3_Frame_Shift_Ins_p.P378fs|PAX2_ENST00000556085.1_Frame_Shift_Ins_p.P377fs|PAX2_ENST00000361791.3_3'UTR|PAX2_ENST00000370296.2_3'UTR	p.P401fs	NM_003987.3|NM_003990.3	NP_003978.2|NP_003981.2	Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	11	1751_1752	+		Colorectal(252;0.234)	401					Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Frame_Shift_Ins	INS	ENST00000428433.1	37	c.1201_1202insC	CCDS53569.1																																																																																				0.569	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				8	715						8	715	---	---	---	---
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr10:125528165_125528167delCAG	ENST00000241305.3	-	9	1328_1330	c.1174_1176delCTG	c.(1174-1176)ctgdel	p.L392del	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	392	Poly-Leu.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(1174-1176)del		carboxypeptidase X (M14 family), member 2																																				SO:0001651	inframe_deletion	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125528165_125528167delCAG	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1174_1176delCTG	10.37:g.125528174_125528176delCAG	ENSP00000241305:p.Leu392del					CPXM2_ENST00000368854.3_5'UTR	p.L392del	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	9	1328_1330	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	392			Poly-Leu.		B4E3Q2	In_Frame_Del	DEL	ENST00000241305.3	37	c.1174_1176delCTG	CCDS7637.1																																																																																				0.626	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		11	1054						11	1054	---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129902204	129902205	+	Frame_Shift_Del	DEL	TG	TG	-	rs143354291		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr10:129902204_129902205delTG	ENST00000368654.3	-	13	8274_8275	c.7899_7900delCA	c.(7897-7902)cacaaafs	p.HK2633fs	MKI67_ENST00000368653.3_Frame_Shift_Del_p.HK2273fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2633	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCTGGTTCTTTGTGTGTGTGTG	0.5																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(7897-7902)caaafs		marker of proliferation Ki-67																																				SO:0001589	frameshift_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129902204_129902205delTG	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.7899_7900delCA	10.37:g.129902214_129902215delTG	ENSP00000357643:p.His2633fs					MKI67_ENST00000368653.3_Frame_Shift_Del_p.HK2273fs	p.HK2633fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	8274_8275	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2633			16 X 122 AA approximate repeats.		Q5VWH2	Frame_Shift_Del	DEL	ENST00000368654.3	37	c.7899_7900delCA	CCDS7659.1																																																																																				0.500	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		21	615						21	615	---	---	---	---
ARL14EP	120534	broad.mit.edu	37	11	30352754	30352754	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr11:30352754delA	ENST00000282032.3	+	2	474	c.259delA	c.(259-261)aaafs	p.K88fs		NM_152316.1	NP_689529.1	Q8N8R7	AL14E_HUMAN	ADP-ribosylation factor-like 14 effector protein	88				K -> KK (in Ref. 2; CAI46092). {ECO:0000305}.		cytoplasm (GO:0005737)											GAAATTAGCCAAAAAAAATTT	0.338																																						ENST00000282032.3																			0											c.(259-261)aafs		ADP-ribosylation factor-like 14 effector protein							93.0	93.0	93.0					11																	30352754		2202	4299	6501	SO:0001589	frameshift_variant	120534							g.chr11:30352754delA	AK096287	CCDS7869.1	11p14.1	2014-09-17	2012-07-09	2012-07-09	ENSG00000152219	ENSG00000152219			26798	protein-coding gene	gene with protein product		612295	"""chromosome 11 open reading frame 46"""	C11orf46		21458045	Standard	XM_005252792		Approved	FLJ38968, ARF7EP	uc001mso.1	Q8N8R7	OTTHUMG00000166154	ENST00000282032.3:c.259delA	11.37:g.30352754delA	ENSP00000282032:p.Lys88fs						p.K88fs	NM_152316.1	NP_689529.1					2	474	+								Q5HYH9	Frame_Shift_Del	DEL	ENST00000282032.3	37	c.259delA	CCDS7869.1																																																																																				0.338	ARL14EP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388129.1	NM_152316		7	535						7	535	---	---	---	---
FADS2	9415	broad.mit.edu	37	11	61607885	61607887	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr11:61607885_61607887delTCC	ENST00000278840.4	+	3	1028_1030	c.398_400delTCC	c.(397-402)ttcctc>ttc	p.L137del	FADS2_ENST00000522056.1_In_Frame_Del_p.L106del|FADS2_ENST00000521849.1_In_Frame_Del_p.L137del|FADS2_ENST00000257261.6_In_Frame_Del_p.L115del	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	137				LLLL -> RTRG (in Ref. 9; CAB43280). {ECO:0000305}.	alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CACGTGTTCTTCCTCCTCCTCCT	0.537																																						ENST00000278840.4																			0				breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						c.(397-402)ttc>t		fatty acid desaturase 2	Alpha-Linolenic Acid(DB00132)																																			SO:0001651	inframe_deletion	9415				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding	g.chr11:61607885_61607887delTCC	AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"""Fatty acid desaturases"""	3575	protein-coding gene	gene with protein product	"""delta-6-desaturase"""	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.398_400delTCC	11.37:g.61607894_61607896delTCC	ENSP00000278840:p.Leu137del					FADS2_ENST00000522056.1_In_Frame_Del_p.FL102del|FADS2_ENST00000521849.1_In_Frame_Del_p.FL133del|FADS2_ENST00000257261.6_In_Frame_Del_p.FL111del	p.FL133del	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN			3	1028_1030	+			133					A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	In_Frame_Del	DEL	ENST00000278840.4	37	c.398_400delTCC	CCDS8012.1																																																																																				0.537	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375586.2	NM_004265		9	1016						9	1016	---	---	---	---
SYVN1	84447	broad.mit.edu	37	11	64898171	64898172	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr11:64898171_64898172delCA	ENST00000377190.3	-	11	1159_1160	c.1065_1066delTG	c.(1063-1068)cctgccfs	p.A356fs	SYVN1_ENST00000294256.8_Frame_Shift_Del_p.A356fs|SYVN1_ENST00000307289.6_Frame_Shift_Del_p.A305fs|SYVN1_ENST00000526060.1_Frame_Shift_Del_p.A356fs|SYVN1_ENST00000526121.1_5'Flank	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	356	Pro-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GGGTGGGGGGCAGGGGGTGGCC	0.668																																						ENST00000526060.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(1063-1068)ccccfs		synovial apoptosis inhibitor 1, synoviolin																																				SO:0001589	frameshift_variant	84447				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr11:64898171_64898172delCA	AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"""RING-type (C3HC4) zinc fingers"""	20738	protein-coding gene	gene with protein product	"""HMG-coA reductase degradation 1 homolog (S. cerevisiae)"""	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.1065_1066delTG	11.37:g.64898171_64898172delCA	ENSP00000366395:p.Ala356fs					SYVN1_ENST00000307289.6_Frame_Shift_Del_p.PA304fs|SYVN1_ENST00000377190.3_Frame_Shift_Del_p.PA355fs|SYVN1_ENST00000294256.8_Frame_Shift_Del_p.PA355fs	p.PA355fs			Q86TM6	SYVN1_HUMAN			11	1257_1258	-			355			Pro-rich.		Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Frame_Shift_Del	DEL	ENST00000377190.3	37	c.1065_1066delTG	CCDS31605.1																																																																																				0.668	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	NM_032431		20	124						20	124	---	---	---	---
KDM2A	22992	broad.mit.edu	37	11	67018079	67018081	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr11:67018079_67018081delGAG	ENST00000529006.2	+	17	3024_3026	c.2578_2580delGAG	c.(2578-2580)gagdel	p.E866del	KDM2A_ENST00000308783.5_In_Frame_Del_p.E324del|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000530342.1_In_Frame_Del_p.E427del	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	866					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						ggaggaggaagaggaggaggagg	0.655																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(2578-2580)del		lysine (K)-specific demethylase 2A																																				SO:0001651	inframe_deletion	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:67018079_67018081delGAG	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.2578_2580delGAG	11.37:g.67018088_67018090delGAG	ENSP00000432786:p.Glu866del					KDM2A_ENST00000308783.5_In_Frame_Del_p.E324del|KDM2A_ENST00000530342.1_In_Frame_Del_p.E427del|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Intron	p.E866del	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			17	3024_3026	+			866					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	In_Frame_Del	DEL	ENST00000529006.2	37	c.2578_2580delGAG	CCDS44657.1																																																																																				0.655	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		7	218						7	218	---	---	---	---
KRTAP5-7	440050	broad.mit.edu	37	11	71238416	71238436	+	In_Frame_Del	DEL	TGTGGCTCTGGCTGTGGGGGA	TGTGGCTCTGGCTGTGGGGGA	-	rs554986629|rs201675734|rs572895813	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr11:71238416_71238436delTGTGGCTCTGGCTGTGGGGGA	ENST00000398536.4	+	1	104_124	c.70_90delTGTGGCTCTGGCTGTGGGGGA	c.(70-90)tgtggctctggctgtgggggadel	p.CGSGCGG24del		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	24						keratin filament (GO:0045095)		p.G30G(1)		breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						CTGTGGGGGCTGTGGCTCTGGCTGTGGGGGATGTGGCTCCA	0.665																																						ENST00000398536.4																			1	Substitution - coding silent(1)	p.G30G(1)	kidney(1)	breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						c.(70-90)del		keratin associated protein 5-7																																				SO:0001651	inframe_deletion	440050					keratin filament		g.chr11:71238416_71238436delTGTGGCTCTGGCTGTGGGGGA	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"""Keratin associated proteins"""	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.70_90delTGTGGCTCTGGCTGTGGGGGA	11.37:g.71238416_71238436delTGTGGCTCTGGCTGTGGGGGA	ENSP00000417330:p.Cys24_Gly30del						p.CGSGCGG24del	NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN			1	104_124	+			24					B2RNM3|Q701N5	In_Frame_Del	DEL	ENST00000398536.4	37	c.70_90delTGTGGCTCTGGCTGTGGGGGA	CCDS41682.1																																																																																				0.665	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			8	1506						8	1506	---	---	---	---
CADM1	23705	broad.mit.edu	37	11	115080312	115080314	+	In_Frame_Del	DEL	TGG	TGG	-	rs370430583		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr11:115080312_115080314delTGG	ENST00000452722.3	-	8	1078_1080	c.1058_1060delCCA	c.(1057-1062)accatc>atc	p.T353del	CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537058.1_In_Frame_Del_p.T353del|CADM1_ENST00000331581.6_In_Frame_Del_p.T353del	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		atggtaaggatggtggtggtggt	0.429																																						ENST00000537058.1																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1057-1062)atc>a		cell adhesion molecule 1																																				SO:0001651	inframe_deletion	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115080312_115080314delTGG	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1058_1060delCCA	11.37:g.115080321_115080323delTGG	ENSP00000395359:p.Thr353del					CADM1_ENST00000542447.2_Intron|CADM1_ENST00000452722.2_In_Frame_Del_p.TI353del|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000331581.6_In_Frame_Del_p.TI353del	p.TI353del			Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	8	1078_1080	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	353	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).					In_Frame_Del	DEL	ENST00000452722.3	37	c.1058_1060delCCA	CCDS8373.1																																																																																				0.429	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		13	386						13	386	---	---	---	---
OR8D4	338662	broad.mit.edu	37	11	123777441	123777442	+	Frame_Shift_Ins	INS	-	-	T	rs79561639|rs74740497|rs201238608	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr11:123777441_123777442insT	ENST00000321355.2	+	1	333_334	c.303_304insT	c.(304-306)tttfs	p.F102fs		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGATTCAGCTGTTTTTTTTCTG	0.436													TTTTTTTT|TTTTTTTT|TTTTTTTTT|insertion	116	0.0231629	0.084	0.0058	5008	,	,		21496	0.0		0.001	False		,,,				2504	0.0					ENST00000321355.2																			0				large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(301-306)ctttttfs		olfactory receptor, family 8, subfamily D, member 4				222,0,4042		5,0,212,0,0,1915						-6.5	0.6		dbSNP_131	230	2,2,8250		0,0,2,0,2,4123	no	codingComplex	OR8D4	NM_001005197.1		5,0,214,0,2,6038	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0485,5.2064,1.8054				224,2,12292				SO:0001589	frameshift_variant	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777441_123777442insT	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.311dupT	11.37:g.123777449_123777449dupT	ENSP00000325381:p.Phe102fs						p.LF101fs	NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	333_334	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	101					Q6IFE9	Frame_Shift_Ins	INS	ENST00000321355.2	37	c.303_304insT	CCDS31698.1																																																																																				0.436	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		7	944						7	944	---	---	---	---
PRMT8	56341	broad.mit.edu	37	12	3649779	3649780	+	Frame_Shift_Ins	INS	-	-	C	rs199933972|rs530556710	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr12:3649779_3649780insC	ENST00000382622.3	+	2	473_474	c.83_84insC	c.(82-87)agccccfs	p.SP28fs	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Frame_Shift_Ins_p.SP19fs	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	28					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGGTGAACAGCCCCCCCTCCC	0.658																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(82-84)accfs		protein arginine methyltransferase 8																																				SO:0001589	frameshift_variant	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649779_3649780insC	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.90dupC	12.37:g.3649786_3649786dupC	ENSP00000372067:p.Ser28fs					PRMT8_ENST00000452611.2_Frame_Shift_Ins_p.T19fs|PRMT8_ENST00000261252.4_3'UTR	p.T28fs	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	473_474	+			28					B2RDP0|Q8TBJ8	Frame_Shift_Ins	INS	ENST00000382622.3	37	c.83_84insC	CCDS8521.2																																																																																				0.658	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		9	967						9	967	---	---	---	---
ACSM4	341392	broad.mit.edu	37	12	7456935	7456935	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr12:7456935delT	ENST00000399422.4	+	1	56	c.8delT	c.(7-9)attfs	p.I3fs		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	3					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						ACCATGAAGATTTTTTTCCGC	0.473																																						ENST00000399422.4																			0				endometrium(6)|kidney(1)|lung(14)	21						c.(7-9)atfs		acyl-CoA synthetase medium-chain family member 4							134.0	130.0	131.0					12																	7456935		1881	4115	5996	SO:0001589	frameshift_variant	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7456935delT		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.8delT	12.37:g.7456935delT	ENSP00000382349:p.Ile3fs						p.I3fs	NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN			1	56	+			3					A8MTI6	Frame_Shift_Del	DEL	ENST00000399422.4	37	c.8delT	CCDS44825.1																																																																																				0.473	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		7	1067						7	1067	---	---	---	---
FOXJ2	55810	broad.mit.edu	37	12	8200558	8200560	+	In_Frame_Del	DEL	CAG	CAG	-	rs372118289		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr12:8200558_8200560delCAG	ENST00000162391.3	+	7	2043_2045	c.898_900delCAG	c.(898-900)cagdel	p.Q306del	FOXJ2_ENST00000428177.2_In_Frame_Del_p.Q306del	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	306	Poly-Gln.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|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 (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		gccacctcaacagcagcagcagc	0.64																																						ENST00000162391.3																			0				autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16						c.(898-900)del		forkhead box J2																																				SO:0001651	inframe_deletion	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr12:8200558_8200560delCAG	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.898_900delCAG	12.37:g.8200567_8200569delCAG	ENSP00000162391:p.Gln306del					FOXJ2_ENST00000428177.2_In_Frame_Del_p.Q306del	p.Q306del	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	7	2043_2045	+			306			Poly-Gln.		A0AVK4|B2RMP3|Q96PS9|Q9NSN5	In_Frame_Del	DEL	ENST00000162391.3	37	c.898_900delCAG	CCDS8587.1																																																																																				0.640	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		11	407						11	407	---	---	---	---
OR6C75	390323	broad.mit.edu	37	12	55759192	55759192	+	Frame_Shift_Del	DEL	T	T	-	rs398102300|rs75456529	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr12:55759192delT	ENST00000343399.3	+	1	298	c.298delT	c.(298-300)tttfs	p.F102fs		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	102						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(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						GGCTCAGCTATTTTTTTTCAT	0.438													|||unknown(NO_COVERAGE)	81	0.0161741	0.0	0.0	5008	,	,		20060	0.0724		0.002	False		,,,				2504	0.0061					ENST00000343399.3																			0				endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						c.(298-300)ttfs		olfactory receptor, family 6, subfamily C, member 75				2,4262		0,2,2130	132.0	126.0	128.0			-5.1	0.0	12	dbSNP_131	128	4,8250		0,4,4123	no	frameshift	OR6C75	NM_001005497.1		0,6,6253	A1A1,A1R,RR		0.0485,0.0469,0.0479			55759192	6,12512	2203	4300	6503	SO:0001589	frameshift_variant	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759192delT		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.298delT	12.37:g.55759192delT	ENSP00000368987:p.Phe102fs						p.F102fs	NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN			1	298	+			102						Frame_Shift_Del	DEL	ENST00000343399.3	37	c.298delT	CCDS31820.1																																																																																				0.438	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			10	997						10	997	---	---	---	---
R3HDM2	22864	broad.mit.edu	37	12	57674205	57674207	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr12:57674205_57674207delTGC	ENST00000347140.3	-	14	1626_1628	c.1236_1238delGCA	c.(1234-1239)cagcaa>caa	p.412_413QQ>Q	R3HDM2_ENST00000403821.2_In_Frame_Del_p.412_413QQ>Q|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000402412.1_In_Frame_Del_p.426_427QQ>Q|R3HDM2_ENST00000441731.2_In_Frame_Del_p.73_74QQ>Q|R3HDM2_ENST00000358907.2_In_Frame_Del_p.412_413QQ>Q|R3HDM2_ENST00000413953.2_In_Frame_Del_p.139_140QQ>Q			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	412	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGCAGGAAGTtgctgctgctgct	0.576																																						ENST00000402412.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1276-1281)caa>ca		R3H domain containing 2																																				SO:0001651	inframe_deletion	22864					nucleus	nucleic acid binding	g.chr12:57674205_57674207delTGC	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1236_1238delGCA	12.37:g.57674214_57674216delTGC	ENSP00000317903:p.Gln413del					RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000347140.3_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000413953.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000358907.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000393811.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000441731.2_In_Frame_Del_p.QQ73del|R3HDM2_ENST00000403821.2_In_Frame_Del_p.QQ412del	p.QQ426del			Q9Y2K5	R3HD2_HUMAN			14	1668_1670	-			412			Gln-rich.		Q2M1T9|Q3ZCT5	In_Frame_Del	DEL	ENST00000347140.3	37	c.1278_1280delGCA	CCDS8937.2																																																																																				0.576	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		10	748						10	748	---	---	---	---
MBD6	114785	broad.mit.edu	37	12	57919302	57919302	+	Frame_Shift_Del	DEL	T	T	-	rs568608586		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr12:57919302delT	ENST00000355673.3	+	6	907	c.551delT	c.(550-552)cttfs	p.L184fs	MBD6_ENST00000431731.2_Frame_Shift_Del_p.L184fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	184	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCTGGGGGGCTTTTCCCCCCA	0.637																																						ENST00000355673.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(550-552)ctfs		methyl-CpG binding domain protein 6							51.0	58.0	56.0					12																	57919302		2200	4297	6497	SO:0001589	frameshift_variant	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57919302delT	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.551delT	12.37:g.57919302delT	ENSP00000347896:p.Leu184fs					MBD6_ENST00000431731.2_Frame_Shift_Del_p.L184fs	p.L184fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN			6	907	+			184			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Frame_Shift_Del	DEL	ENST00000355673.3	37	c.551delT	CCDS8944.1																																																																																				0.637	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			8	1118						8	1118	---	---	---	---
MLEC	9761	broad.mit.edu	37	12	121134166	121134168	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr12:121134166_121134168delGAA	ENST00000228506.3	+	5	1125_1127	c.697_699delGAA	c.(697-699)gaadel	p.E238del	RP11-173P15.3_ENST00000535720.1_RNA|RP11-173P15.3_ENST00000541383.1_RNA|MLEC_ENST00000412616.2_In_Frame_Del_p.K159del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	238	Poly-Glu.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)	p.E233E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gaaagaagaggaagaagaagaag	0.458																																						ENST00000228506.3																			1	Substitution - coding silent(1)	p.E233E(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						c.(697-699)del		malectin				4,33,4227		0,0,4,8,17,2103						1.0	1.0			129	1,29,8224		0,0,1,6,17,4103	no	codingComplex	MLEC	NM_014730.2		0,0,5,14,34,6206	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3635,0.8677,0.5352				5,62,12451				SO:0001651	inframe_deletion	9761				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	g.chr12:121134166_121134168delGAA	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.697_699delGAA	12.37:g.121134175_121134177delGAA	ENSP00000228506:p.Glu238del					MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del	p.E238del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN			5	1125_1127	+			238			Poly-Glu.			In_Frame_Del	DEL	ENST00000228506.3	37	c.697_699delGAA	CCDS9206.1																																																																																				0.458	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730		19	1048						19	1048	---	---	---	---
SFSWAP	6433	broad.mit.edu	37	12	132281734	132281736	+	In_Frame_Del	DEL	AGA	AGA	-	rs372337364	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr12:132281734_132281736delAGA	ENST00000261674.4	+	16	2687_2689	c.2546_2548delAGA	c.(2545-2550)gagaag>gag	p.K853del	SFSWAP_ENST00000541286.1_In_Frame_Del_p.K905del|SFSWAP_ENST00000539506.1_3'UTR	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	853	Arg/Ser-rich (RS domain).|Poly-Lys.				mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGTCCCCACGAGAAGAAGAAGAA	0.606														3	0.000599042	0.0	0.0	5008	,	,		16291	0.002		0.001	False		,,,				2504	0.0					ENST00000261674.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						c.(2545-2550)gag>g		splicing factor, suppressor of white-apricot homolog (Drosophila)				79,4057		6,67,1995						5.3	1.0			83	146,7912		14,118,3897	no	coding	SFSWAP	NM_004592.2		20,185,5892	A1A1,A1R,RR		1.8119,1.9101,1.8452				225,11969				SO:0001651	inframe_deletion	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132281734_132281736delAGA	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.2546_2548delAGA	12.37:g.132281743_132281745delAGA	ENSP00000261674:p.Lys853del					SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del	p.EK849del	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN			16	2687_2689	+			849			Arg/Ser-rich (RS domain).		B2RN45|B7ZM97|F5H6B8|Q6PJF7	In_Frame_Del	DEL	ENST00000261674.4	37	c.2546_2548delAGA	CCDS9273.1																																																																																				0.606	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		11	1048						11	1048	---	---	---	---
TPTE2P2	644623	broad.mit.edu	37	13	52796688	52796688	+	RNA	DEL	C	C	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr13:52796688delC	ENST00000451298.1	-	0	1229				TPTE2P2_ENST00000606973.1_RNA																							cgctattgctccccacccatc	0.537																																						ENST00000451298.1																			0																																																			0							g.chr13:52796688delC																													13.37:g.52796688delC						RP11-64P12.8_ENST00000606031.1_RNA								0	1229	-									RNA	DEL	ENST00000451298.1	37																																																																																						0.537	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			18	107						18	107	---	---	---	---
LOC102723968	102723968	broad.mit.edu	37	13	64407210	64407211	+	lincRNA	INS	-	-	TACTGTCAG			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr13:64407210_64407211insTACTGTCAG	ENST00000607822.1	-	0	2159																											AGACCTTTATATAATTGCCAAA	0.366																																						ENST00000607822.1																			0																																																			0							g.chr13:64407210_64407211insTACTGTCAG																													13.37:g.64407210_64407211insTACTGTCAG														0	2159	-									RNA	INS	ENST00000607822.1	37																																																																																						0.366	RP11-394A14.2-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000471084.1			15	680						15	680	---	---	---	---
ERCC5	2073	broad.mit.edu	37	13	103524612	103524612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr13:103524612delA	ENST00000355739.4	+	13	4166	c.2743delA	c.(2743-2745)aaafs	p.K917fs	ERCC5_ENST00000375954.1_Frame_Shift_Del_p.K150fs|BIVM-ERCC5_ENST00000602836.1_Frame_Shift_Del_p.E1340fs	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	917					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CACCAAAGTGAAAAAAAAATT	0.428			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000355739.4			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"""Mis, N, F"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51						c.(2743-2745)aafs	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 5							79.0	77.0	77.0					13																	103524612		2203	4300	6503	SO:0001589	frameshift_variant	2073	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV				g.chr13:103524612delA	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.2743delA	13.37:g.103524612delA	ENSP00000347978:p.Lys917fs					BIVM-ERCC5_ENST00000602836.1_Frame_Shift_Del_p.1340fs|ERCC5_ENST00000375954.1_Frame_Shift_Del_p.K150fs	p.K917fs	NM_000123.3	NP_000114.2					13	4166	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)							A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Frame_Shift_Del	DEL	ENST00000355739.4	37	c.2743delA	CCDS32004.1																																																																																				0.428	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			7	297						7	297	---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72190482	72190484	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr14:72190482_72190484delTCC	ENST00000555818.1	+	16	4738_4740	c.4390_4392delTCC	c.(4390-4392)tccdel	p.S1468del	SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1468	Ser-rich.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ctcctcctcttcctcctcctcct	0.552																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(4390-4392)del		signal-induced proliferation-associated 1 like 1																																				SO:0001651	inframe_deletion	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72190482_72190484delTCC	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4390_4392delTCC	14.37:g.72190491_72190493delTCC	ENSP00000450832:p.Ser1468del					SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del	p.S1468del	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	16	4738_4740	+			1468			Ser-rich.		J3KP19|O95321|Q9UDU4|Q9UNU4	In_Frame_Del	DEL	ENST00000555818.1	37	c.4390_4392delTCC	CCDS9807.1																																																																																				0.552	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		8	781						8	781	---	---	---	---
SYNE3	161176	broad.mit.edu	37	14	95921888	95921890	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr14:95921888_95921890delCTC	ENST00000334258.5	-	5	975_977	c.961_963delGAG	c.(961-963)gagdel	p.E321del	SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	321					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CCCGCAGCCGCTCCTCCTCCTCC	0.616																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(961-963)del		spectrin repeat containing, nuclear envelope family member 3																																				SO:0001651	inframe_deletion	161176							g.chr14:95921888_95921890delCTC	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.961_963delGAG	14.37:g.95921897_95921899delCTC	ENSP00000334308:p.Glu321del					SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del	p.E321del	NM_152592.3	NP_689805.3					5	975_977	-								A6H8H3|Q86SX5|Q8N7G8	In_Frame_Del	DEL	ENST00000334258.5	37	c.961_963delGAG	CCDS9935.1																																																																																				0.616	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		8	784						8	784	---	---	---	---
IGHV3-48	28424	broad.mit.edu	37	14	106993939	106993941	+	RNA	DEL	TAC	TAC	-	rs199815306|rs144292224	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr14:106993939_106993941delTAC	ENST00000390624.2	-	0	302_304									immunoglobulin heavy variable 3-48																		TAGTATATGGTACTACTACTACT	0.502																																						ENST00000390624.2																			0																	307,3283		14,279,1502						-5.2	0.0		dbSNP_134	157	272,7558		29,214,3672	no	intergenic				43,493,5174	A1A1,A1R,RR		3.4738,8.5515,5.0701				579,10841						0							g.chr14:106993939_106993941delTAC	M99675		14q32.33	2012-02-08			ENSG00000211964	ENSG00000211964		"""Immunoglobulins / IGH locus"""	5606	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151959		14.37:g.106993948_106993950delTAC														0	302_304	-									RNA	DEL	ENST00000390624.2	37																																																																																						0.502	IGHV3-48-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324605.1	NG_001019		9	1024						9	1024	---	---	---	---
ZNF106	64397	broad.mit.edu	37	15	42742957	42742957	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr15:42742957delA	ENST00000263805.4	-	2	1770	c.1444delT	c.(1444-1446)tccfs	p.S482fs	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	482					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TCTCCAGGGGAAAAAAAATTT	0.393																																						ENST00000263805.4																			0											c.(1444-1446)ccfs		zinc finger protein 106							208.0	205.0	206.0					15																	42742957		2203	4299	6502	SO:0001589	frameshift_variant	64397							g.chr15:42742957delA	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.1444delT	15.37:g.42742957delA	ENSP00000263805:p.Ser482fs					ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	p.S482fs	NM_022473.1	NP_071918.1					2	1770	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Frame_Shift_Del	DEL	ENST00000263805.4	37	c.1444delT	CCDS32208.1																																																																																				0.393	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		7	921						7	921	---	---	---	---
KIF7	374654	broad.mit.edu	37	15	90189153	90189155	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr15:90189153_90189155delCTC	ENST00000394412.3	-	8	1967_1969	c.1891_1893delGAG	c.(1891-1893)gagdel	p.E631del		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	631	Poly-Glu.|Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GCCTGGGCGGctcctcctcctcc	0.64																																						ENST00000394412.3																			0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25						c.(1891-1893)del		kinesin family member 7				11,4253		4,3,2125						-1.0	0.0			91	18,8234		5,8,4113	no	coding	KIF7	NM_198525.2		9,11,6238	A1A1,A1R,RR		0.2181,0.258,0.2317				29,12487				SO:0001651	inframe_deletion	374654				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90189153_90189155delCTC	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.1891_1893delGAG	15.37:g.90189162_90189164delCTC	ENSP00000377934:p.Glu631del						p.E631del	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		8	1967_1969	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		631			Poly-Glu.		Q3SXY0|Q6UXE9|Q8IW72	In_Frame_Del	DEL	ENST00000394412.3	37	c.1891_1893delGAG	CCDS32325.2																																																																																				0.640	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		9	267						9	267	---	---	---	---
EME2	197342	broad.mit.edu	37	16	1824298	1824300	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr16:1824298_1824300delTGC	ENST00000568449.1	+	3	443_445	c.422_424delTGC	c.(421-426)ttgctg>ttg	p.141_142LL>L	NME3_ENST00000219302.3_5'Flank|EME2_ENST00000307394.7_In_Frame_Del_p.141_142LL>L|NME3_ENST00000563498.1_5'Flank|MRPS34_ENST00000397375.2_5'Flank|MRPS34_ENST00000177742.3_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	141					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GAACAGGAATTGCTGCTGCTGCT	0.655								Direct reversal of damage;Homologous recombination																														ENST00000307394.7																			0				central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						c.(421-426)ttg>t	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease subunit 2																																				SO:0001651	inframe_deletion	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1824298_1824300delTGC	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"""	610886	"""essential meiotic endonuclease 1 homolog 2 (S. pombe)"""			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.422_424delTGC	16.37:g.1824307_1824309delTGC	ENSP00000457353:p.Leu145del					EME2_ENST00000568449.1_In_Frame_Del_p.LL143del	p.LL143del			A4GXA9	EME2_HUMAN			3	422_424	+			143					Q8TEP2|Q96RY3	In_Frame_Del	DEL	ENST00000568449.1	37	c.422_424delTGC	CCDS58404.1																																																																																				0.655	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		8	598						8	598	---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29994531	29994533	+	In_Frame_Del	DEL	GAG	GAG	-	rs368747234		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr16:29994531_29994533delGAG	ENST00000308893.4	+	12	2181_2183	c.1138_1140delGAG	c.(1138-1140)gagdel	p.E392del	TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	392	Glu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CAACgaggaagaggaggaggagg	0.611																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(1138-1140)del		TAO kinase 2																																				SO:0001651	inframe_deletion	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29994531_29994533delGAG	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1138_1140delGAG	16.37:g.29994540_29994542delGAG	ENSP00000310094:p.Glu392del					TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del	p.E392del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			12	2181_2183	+			392			Glu-rich.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	In_Frame_Del	DEL	ENST00000308893.4	37	c.1138_1140delGAG	CCDS10663.1																																																																																				0.611	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		7	459						7	459	---	---	---	---
CD2BP2	10421	broad.mit.edu	37	16	30365550	30365552	+	In_Frame_Del	DEL	CAT	CAT	-	rs202017154		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr16:30365550_30365552delCAT	ENST00000305596.3	-	3	345_347	c.170_172delATG	c.(169-174)gatggg>ggg	p.D57del	CD2BP2_ENST00000569466.1_In_Frame_Del_p.D57del|RP11-347C12.10_ENST00000563252.1_lincRNA	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	57					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CTGGACCCCCCATCATCATCATC	0.532																																						ENST00000305596.3																			0				breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						c.(169-174)ggg>g		CD2 (cytoplasmic tail) binding protein 2																																				SO:0001651	inframe_deletion	10421				assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	g.chr16:30365550_30365552delCAT	AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 59"""	604470	"""CD2 antigen (cytoplasmic tail)-binding protein 2"""			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.170_172delATG	16.37:g.30365559_30365561delCAT	ENSP00000304903:p.Asp57del					CD2BP2_ENST00000569466.1_In_Frame_Del_p.DG57del	p.DG57del	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN			3	345_347	-			57					B2RDX2|Q9ULP2	In_Frame_Del	DEL	ENST00000305596.3	37	c.170_172delATG	CCDS10675.1																																																																																				0.532	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1	NM_006110		11	1729						11	1729	---	---	---	---
ORAI3	93129	broad.mit.edu	37	16	30964972	30964974	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr16:30964972_30964974delGTG	ENST00000318663.4	+	2	919_921	c.695_697delGTG	c.(694-699)tgtggt>tgt	p.G236del	ORAI3_ENST00000562699.1_Intron|ORAI3_ENST00000566237.1_In_Frame_Del_p.G236del|AC135048.13_ENST00000566056.1_RNA	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	236					store-operated calcium entry (GO:0002115)	integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						CGGCAAGCCTGTGGTGGTGGTGG	0.645											OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000318663.4																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						c.(694-699)tgt>t		ORAI calcium release-activated calcium modulator 3																																				SO:0001651	inframe_deletion	93129					integral to membrane	protein binding	g.chr16:30964972_30964974delGTG	BC006126	CCDS10697.1	16p11.2	2007-08-14	2007-08-14	2007-08-14	ENSG00000175938	ENSG00000175938		"""ORAI calcium release-activated calcium modulators"""	28185	protein-coding gene	gene with protein product		610930	"""transmembrane protein 142C"""	TMEM142C		16582901	Standard	NM_152288		Approved	MGC13024	uc002eac.3	Q9BRQ5	OTTHUMG00000132409	ENST00000318663.4:c.695_697delGTG	16.37:g.30964981_30964983delGTG	ENSP00000322249:p.Gly236del		OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	821	AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000562699.1_Intron|ORAI3_ENST00000566237.1_In_Frame_Del_p.CG232del	p.CG232del	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN			2	919_921	+			232					Q96BI8	In_Frame_Del	DEL	ENST00000318663.4	37	c.695_697delGTG	CCDS10697.1																																																																																				0.645	ORAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255545.20	NM_152288		7	1165						7	1165	---	---	---	---
SETD1A	9739	broad.mit.edu	37	16	30982809	30982811	+	In_Frame_Del	DEL	TCC	TCC	-	rs531337171|rs569719496	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr16:30982809_30982811delTCC	ENST00000262519.8	+	13	3813_3815	c.3127_3129delTCC	c.(3127-3129)tccdel	p.S1058del		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1058	Ser-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAGctcctcatcctcctcctcct	0.547																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(3127-3129)del		SET domain containing 1A																																				SO:0001651	inframe_deletion	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30982809_30982811delTCC	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3127_3129delTCC	16.37:g.30982818_30982820delTCC	ENSP00000262519:p.Ser1058del						p.S1058del	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			13	3813_3815	+			1058			Ser-rich.		A6NP62|Q6PIF3|Q8TAJ6	In_Frame_Del	DEL	ENST00000262519.8	37	c.3127_3129delTCC	CCDS32435.1																																																																																				0.547	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		14	558						14	558	---	---	---	---
FUS	2521	broad.mit.edu	37	16	31201632	31201634	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr16:31201632_31201634delGTG	ENST00000254108.7	+	12	1310_1312	c.1205_1207delGTG	c.(1204-1209)agtggt>agt	p.G406del	FUS_ENST00000380244.3_In_Frame_Del_p.G405del|FUS_ENST00000568685.1_In_Frame_Del_p.G407del|FUS_ENST00000474990.1_3'UTR	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	406	Arg/Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		ggtggtggcagtggtggtggtgg	0.557			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""																																	ENST00000254108.7				Dom	yes		16	16p11.2	2521	T	"""fusion, derived from t(12;16) malignant liposarcoma"""			"""M, L"""	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""		"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""	FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	0				breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22						c.(1204-1209)agt>a		fused in sarcoma																																				SO:0001651	inframe_deletion	2521				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr16:31201632_31201634delGTG	AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"""RNA binding motif (RRM) containing"""	4010	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein P2"", ""translocated in liposarcoma"""	137070	"""fusion, derived from t(12;16) malignant liposarcoma"", ""amyotrophic lateral sclerosis 6"", ""fusion (involved in t(12;16) in malignant liposarcoma)"", ""fused in sarcoma"""	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.1205_1207delGTG	16.37:g.31201641_31201643delGTG	ENSP00000254108:p.Gly406del					FUS_ENST00000474990.1_3'UTR|FUS_ENST00000380244.3_In_Frame_Del_p.SG401del|FUS_ENST00000568685.1_In_Frame_Del_p.SG403del	p.SG402del	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)	12	1310_1312	+		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)	402			Arg/Gly-rich.		Q9H4A8	In_Frame_Del	DEL	ENST00000254108.7	37	c.1205_1207delGTG	CCDS10707.1																																																																																				0.557	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2	NM_004960		9	564						9	564	---	---	---	---
IRX6	79190	broad.mit.edu	37	16	55362674	55362676	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr16:55362674_55362676delGAG	ENST00000290552.7	+	5	2116_2118	c.784_786delGAG	c.(784-786)gagdel	p.E268del	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	268					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCTggaggaagaggaggaggagg	0.626																																						ENST00000290552.7																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(784-786)del		iroquois homeobox 6																																				SO:0001651	inframe_deletion	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55362674_55362676delGAG	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.784_786delGAG	16.37:g.55362683_55362685delGAG	ENSP00000290552:p.Glu268del					RP11-26L20.3_ENST00000558730.2_RNA	p.E268del	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			5	2116_2118	+			268					B2RN06|Q7Z2K0	In_Frame_Del	DEL	ENST00000290552.7	37	c.784_786delGAG	CCDS32449.1																																																																																				0.626	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		19	494						19	494	---	---	---	---
RANBP10	57610	broad.mit.edu	37	16	67763279	67763281	+	In_Frame_Del	DEL	GAG	GAG	-	rs141826437	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr16:67763279_67763281delGAG	ENST00000317506.3	-	10	1369_1371	c.1254_1256delCTC	c.(1252-1257)tcctcg>tcg	p.418_419SS>S	RANBP10_ENST00000411657.2_In_Frame_Del_p.301_302SS>S|RANBP10_ENST00000448631.2_In_Frame_Del_p.362_363SS>S|RANBP10_ENST00000602677.1_In_Frame_Del_p.418_419SS>S|RANBP10_ENST00000536251.1_In_Frame_Del_p.189_190SS>S	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	418	Ser-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.S418S(2)		endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		ggaagaggacgaggaggaggagg	0.567																																						ENST00000317506.3																			2	Substitution - coding silent(2)	p.S418S(2)	endometrium(2)	endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(1252-1257)tcg>tc		RAN binding protein 10																																				SO:0001651	inframe_deletion	57610							g.chr16:67763279_67763281delGAG	AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.1254_1256delCTC	16.37:g.67763288_67763290delGAG	ENSP00000316589:p.Ser422del					RANBP10_ENST00000411657.2_In_Frame_Del_p.SS303del|RANBP10_ENST00000602677.1_In_Frame_Del_p.SS420del|RANBP10_ENST00000536251.1_In_Frame_Del_p.SS191del|RANBP10_ENST00000448631.2_In_Frame_Del_p.SS364del	p.SS420del	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	10	1369_1371	-		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)	420			Ser-rich.		A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	In_Frame_Del	DEL	ENST00000317506.3	37	c.1254_1256delCTC	CCDS32469.1																																																																																				0.567	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850		7	300						7	300	---	---	---	---
NFAT5	10725	broad.mit.edu	37	16	69726420	69726422	+	In_Frame_Del	DEL	CAG	CAG	-	rs369235958		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr16:69726420_69726422delCAG	ENST00000354436.2	+	12	2956_2958	c.2638_2640delCAG	c.(2638-2640)cagdel	p.Q888del	NFAT5_ENST00000349945.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	888	Poly-Gln.				cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q804Q(1)|p.Q898Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATCTAATcaacagcagcagcagc	0.473																																						ENST00000349945.1																			2	Substitution - coding silent(2)	p.Q804Q(1)|p.Q898Q(1)	endometrium(2)	NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2410-2412)del		nuclear factor of activated T-cells 5, tonicity-responsive																																				SO:0001651	inframe_deletion	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69726420_69726422delCAG	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2638_2640delCAG	16.37:g.69726429_69726431delCAG	ENSP00000346420:p.Gln888del					NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del	p.Q812del	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	3962_3964	+			888					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	In_Frame_Del	DEL	ENST00000354436.2	37	c.2410_2412delCAG	CCDS10881.1																																																																																				0.473	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		7	337						7	337	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72822564	72822566	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr16:72822564_72822566delTGC	ENST00000268489.5	-	10	10281_10283	c.9609_9611delGCA	c.(9607-9612)cagcaa>caa	p.3203_3204QQ>Q	AC004943.1_ENST00000584072.1_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_In_Frame_Del_p.2289_2290QQ>Q|RP5-991G20.1_ENST00000563328.2_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3203	Poly-Gln.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|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)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cacctgtggttgctgctgctgct	0.65																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(9607-9612)caa>ca		zinc finger homeobox 3																																				SO:0001651	inframe_deletion	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72822564_72822566delTGC	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.9609_9611delGCA	16.37:g.72822573_72822575delTGC	ENSP00000268489:p.Gln3204del					ZFHX3_ENST00000397992.5_In_Frame_Del_p.QQ2289del	p.QQ3203del	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	10281_10283	-		Ovarian(137;0.13)	3203			Poly-Gln.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.9609_9611delGCA	CCDS10908.1																																																																																				0.650	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		25	996						25	996	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682). {ECO:0000269|PubMed:7592926}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|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)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635																																						ENST00000268489.5																			1	Substitution - coding silent(1)	p.V777V(1)	lung(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(2329-2334)gct>g		zinc finger homeobox 3			,	1706,1886		582,542,672					,	5.5	0.1			17	4240,2792		1606,1028,882	no	coding,intron	ZFHX3	NM_006885.3,NM_001164766.1	,	2188,1570,1554	A1A1,A1R,RR		39.7042,47.4944,44.0324	,	,		5946,4678				SO:0001651	inframe_deletion	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991713_72991715delCCA	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2330_2332delTGG	16.37:g.72991713_72991715delCCA	ENSP00000268489:p.Val777del					ZFHX3_ENST00000397992.5_Intron	p.VA777del	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	3002_3004	-		Ovarian(137;0.13)	777		V -> A (in dbSNP:rs4788682).	Poly-Ala.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.2330_2332delTGG	CCDS10908.1																																																																																				0.635	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		9	453						9	453	---	---	---	---
ADAMTS18	170692	broad.mit.edu	37	16	77356310	77356311	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr16:77356310_77356311insA	ENST00000282849.5	-	14	2503_2504	c.2085_2086insT	c.(2083-2088)tttgcafs	p.A696fs		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	696	Cys-rich.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A696fs*18(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CCGGACATTGCAAAAAAAAATT	0.406																																						ENST00000282849.5																			2	Insertion - Frameshift(2)	p.A696fs*18(2)	large_intestine(2)	NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(2083-2088)ttcaatfs		ADAM metallopeptidase with thrombospondin type 1 motif, 18																																				SO:0001589	frameshift_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77356310_77356311insA	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2086dupT	16.37:g.77356319_77356319dupA	ENSP00000282849:p.Ala696fs						p.N696fs	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			14	2503_2504	-			696			Cys-rich.		Q6P4R5|Q6ZWJ9	Frame_Shift_Ins	INS	ENST00000282849.5	37	c.2085_2086insT	CCDS10926.1																																																																																				0.406	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			10	513						10	513	---	---	---	---
MYOCD	93649	broad.mit.edu	37	17	12647692	12647694	+	In_Frame_Del	DEL	CAG	CAG	-	rs536181176	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr17:12647692_12647694delCAG	ENST00000343344.4	+	8	910_912	c.910_912delCAG	c.(910-912)cagdel	p.Q310del	MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000425538.1_In_Frame_Del_p.Q310del|AC005358.1_ENST00000609971.1_In_Frame_Del_p.Q214del			Q8IZQ8	MYCD_HUMAN	myocardin	310	Gln-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AATCCTCAGCcagcagcagcagc	0.596														27	0.00539137	0.0098	0.0029	5008	,	,		19180	0.001		0.001	False		,,,				2504	0.0102					ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(910-912)del		myocardin			,,	189,4075		0,189,1943					,,	3.1	1.0			38	472,7780		2,468,3656	no	coding,coding,coding	MYOCD	NM_153604.2,NM_001146313.1,NM_001146312.1	,,	2,657,5599	A1A1,A1R,RR		5.7198,4.4325,5.2812	,,	,,		661,11855				SO:0001651	inframe_deletion	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12647692_12647694delCAG	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.910_912delCAG	17.37:g.12647701_12647703delCAG	ENSP00000341835:p.Gln310del					MYOCD_ENST00000343344.4_In_Frame_Del_p.Q310del|MYOCD_ENST00000395988.1_In_Frame_Del_p.Q214del	p.Q310del	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	8	1110_1112	+			310			Gln-rich.		Q5UBU5|Q8N7Q1	In_Frame_Del	DEL	ENST00000343344.4	37	c.910_912delCAG	CCDS11163.1																																																																																				0.596	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		7	156						7	156	---	---	---	---
TMEM199	147007	broad.mit.edu	37	17	26684394	26684395	+	5'Flank	INS	-	-	G	rs202089331|rs17856014	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr17:26684394_26684395insG	ENST00000292114.3	+	0	0				POLDIP2_ENST00000540200.1_Splice_Site|TMEM199_ENST00000395404.3_5'Flank|POLDIP2_ENST00000003607.4_5'UTR|TMEM199_ENST00000509083.1_5'Flank|CTB-96E2.3_ENST00000591482.1_RNA	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AGAGCGGCTTTGCCACCGGGCC	0.762																																						ENST00000540200.1																			0											c.e1+1		polymerase (DNA-directed), delta interacting protein 2				2770,50		1380,10,20						0.4	0.1		dbSNP_130	4	6440,112		3203,34,39	no	frameshift	POLDIP2	NM_015584.3		4583,44,59	A1A1,A1R,RR		1.7094,1.773,1.7286				9210,162				SO:0001631	upstream_gene_variant	26073					mitochondrial nucleoid|nucleus		g.chr17:26684394_26684395insG	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26684395_26684395dupG	Exception_encountered					POLDIP2_ENST00000003607.4_5'UTR		NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	1	78	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)								Splice_Site	INS	ENST00000292114.3	37		CCDS11228.1																																																																																				0.762	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		9	27						9	27	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27001303	27001305	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr17:27001303_27001305delGAG	ENST00000314616.6	+	3	395_397	c.112_114delGAG	c.(112-114)gagdel	p.E43del	SUPT6H_ENST00000347486.4_In_Frame_Del_p.E43del|AC010761.13_ENST00000578819.1_RNA	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	43	Asp/Glu-rich.|Interaction with IWS1. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCTTCCAGATGAGGAGGAGGAGG	0.453																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(112-114)del		suppressor of Ty 6 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27001303_27001305delGAG	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.112_114delGAG	17.37:g.27001312_27001314delGAG	ENSP00000319104:p.Glu43del					SUPT6H_ENST00000347486.4_In_Frame_Del_p.E43del	p.E43del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			3	395_397	+	Lung NSC(42;0.00431)		43			Asp/Glu-rich.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	In_Frame_Del	DEL	ENST00000314616.6	37	c.112_114delGAG	CCDS32596.1																																																																																				0.453	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		9	222						9	222	---	---	---	---
ZNF207	7756	broad.mit.edu	37	17	30677314	30677316	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr17:30677314_30677316delAAG	ENST00000321233.6	+	1	164_166	c.10_12delAAG	c.(10-12)aagdel	p.K7del	ZNF207_ENST00000577908.1_In_Frame_Del_p.K7del|ZNF207_ENST00000341711.6_In_Frame_Del_p.K7del|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000394673.2_In_Frame_Del_p.K7del|ZNF207_ENST00000342555.6_5'UTR|MIR632_ENST00000385193.1_RNA|ZNF207_ENST00000394670.4_In_Frame_Del_p.K7del	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	7	Microtubule-binding region.				attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TATGGGTCGCAAGAAGAAGAAGC	0.542																																						ENST00000394670.4																			0				breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10						c.(10-12)del		zinc finger protein 207																																				SO:0001651	inframe_deletion	7756					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:30677314_30677316delAAG	AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"""Zinc fingers, C2H2-type"""	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.10_12delAAG	17.37:g.30677323_30677325delAAG	ENSP00000322777:p.Lys7del					ZNF207_ENST00000577908.1_In_Frame_Del_p.K7del|ZNF207_ENST00000341711.6_In_Frame_Del_p.K7del|ZNF207_ENST00000321233.6_In_Frame_Del_p.K7del|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000342555.6_5'UTR|ZNF207_ENST00000394673.2_In_Frame_Del_p.K7del	p.K7del	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		1	179_181	+		Breast(31;0.116)|Ovarian(249;0.182)	7					A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	In_Frame_Del	DEL	ENST00000321233.6	37	c.10_12delAAG	CCDS11271.1																																																																																				0.542	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2			8	1322						8	1322	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1360-1362)cafs		cell division cycle 27							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			11	1454	-			454					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1361delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			30	176						30	176	---	---	---	---
SPAG9	9043	broad.mit.edu	37	17	49077041	49077041	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr17:49077041delT	ENST00000262013.7	-	14	1853	c.1645delA	c.(1645-1647)aggfs	p.R549fs	SPAG9_ENST00000510283.1_Frame_Shift_Del_p.R392fs|SPAG9_ENST00000505279.1_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000357122.4_Frame_Shift_Del_p.R535fs	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	549					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.R535fs*28(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			ATGCTTGACCTTTTTTTTTCC	0.323																																						ENST00000262013.7																			1	Deletion - Frameshift(1)	p.R535fs*28(1)	large_intestine(1)	NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(1645-1647)ggfs		sperm associated antigen 9							158.0	136.0	144.0					17																	49077041		2203	4300	6503	SO:0001589	frameshift_variant	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49077041delT	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.1645delA	17.37:g.49077041delT	ENSP00000262013:p.Arg549fs					SPAG9_ENST00000505279.1_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000510283.1_Frame_Shift_Del_p.R392fs|SPAG9_ENST00000357122.4_Frame_Shift_Del_p.R535fs	p.R549fs	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		14	1853	-			549					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Frame_Shift_Del	DEL	ENST00000262013.7	37	c.1645delA	CCDS45740.1																																																																																				0.323	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		12	206						12	206	---	---	---	---
VEZF1	7716	broad.mit.edu	37	17	56056605	56056607	+	In_Frame_Del	DEL	TGC	TGC	-	rs61731354|rs73995411|rs57786397|rs369163670	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr17:56056605_56056607delTGC	ENST00000581208.1	-	5	1084_1086	c.1044_1046delGCA	c.(1042-1047)cagcaa>caa	p.348_349QQ>Q	VEZF1_ENST00000584396.1_In_Frame_Del_p.339_340QQ>Q	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	348	Poly-Gln.				angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|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)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						ttgttgttgttgctgctgctgct	0.463																																						ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(1015-1020)caa>ca		vascular endothelial zinc finger 1																																				SO:0001651	inframe_deletion	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56056605_56056607delTGC	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.1044_1046delGCA	17.37:g.56056614_56056616delTGC	ENSP00000462337:p.Gln354del					VEZF1_ENST00000581208.1_In_Frame_Del_p.QQ352del	p.QQ343del			Q14119	VEZF1_HUMAN			5	1105_1107	-			352			Poly-Gln.			In_Frame_Del	DEL	ENST00000581208.1	37	c.1017_1019delGCA	CCDS32687.1																																																																																				0.463	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			8	788						8	788	---	---	---	---
SRP68	6730	broad.mit.edu	37	17	74068528	74068530	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr17:74068528_74068530delGCC	ENST00000307877.2	-	1	204_206	c.43_45delGGC	c.(43-45)ggcdel	p.G15del	SRP68_ENST00000539137.1_In_Frame_Del_p.G15del|SRP68_ENST00000355113.5_5'UTR|GALR2_ENST00000329003.3_5'Flank	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	15	Poly-Gly.			Missing (in Ref. 1; AAF24308). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						cgccgccactgccgccgccgccg	0.709																																						ENST00000307877.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						c.(43-45)del		signal recognition particle 68kDa				26,1444		5,16,714						-7.9	0.0			11	113,3743		17,79,1832	no	coding	SRP68	NM_014230.2		22,95,2546	A1A1,A1R,RR		2.9305,1.7687,2.6098				139,5187				SO:0001651	inframe_deletion	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74068528_74068530delGCC	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.43_45delGGC	17.37:g.74068537_74068539delGCC	ENSP00000312066:p.Gly15del					SRP68_ENST00000355113.5_5'UTR|SRP68_ENST00000539137.1_In_Frame_Del_p.G15del	p.G15del	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN			1	204_206	-			15	Missing (in Ref. 1).		Poly-Gly.		B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	In_Frame_Del	DEL	ENST00000307877.2	37	c.43_45delGGC	CCDS11738.1																																																																																				0.709	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		7	280						7	280	---	---	---	---
ROCK1P1	727758	broad.mit.edu	37	18	112519	112520	+	RNA	INS	-	-	A	rs199734221		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr18:112519_112520insA	ENST00000608049.1	+	0	389					NR_033770.1				Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1																		CCAGCTCCCCCGGGGCCTCCGT	0.53																																						ENST00000576266.1																			0																																																			0							g.chr18:112519_112520insA			18p11.32	2012-10-04			ENSG00000263006	ENSG00000263006			37832	pseudogene	pseudogene							Standard	NR_033770		Approved		uc002kke.3		OTTHUMG00000177913		18.37:g.112519_112520insA														0	153_154	+									RNA	INS	ENST00000608049.1	37																																																																																						0.530	ROCK1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472417.1			7	111						7	111	---	---	---	---
NEDD4L	23327	broad.mit.edu	37	18	55992284	55992286	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr18:55992284_55992286delTCC	ENST00000400345.3	+	9	853_855	c.570_572delTCC	c.(568-573)cttcct>ctt	p.P194del	NEDD4L_ENST00000586263.1_In_Frame_Del_p.P186del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.P194del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000456173.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000456986.1_In_Frame_Del_p.P73del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.P194del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.P73del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.P186del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.P194del	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	194	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498																																						ENST00000456986.1																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						c.(205-210)ctt>ct		neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	0				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:55992284_55992286delTCC	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.570_572delTCC	18.37:g.55992293_55992295delTCC	ENSP00000383199:p.Pro194del					NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del	p.LP69del	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN			9	807_809	+			190			C2.		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	In_Frame_Del	DEL	ENST00000400345.3	37	c.207_209delTCC	CCDS45872.1																																																																																				0.498	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			9	830						9	830	---	---	---	---
ZNF563	147837	broad.mit.edu	37	19	12430217	12430217	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr19:12430217delA	ENST00000293725.5	-	4	827	c.622delT	c.(622-624)tggfs	p.W208fs	ZNF563_ENST00000595977.1_Intron	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AAACTGGGCCAAAAAAAAGCT	0.393																																					GBM(39;623 795 5132 29510 31476)	ENST00000293725.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(622-624)ggfs		zinc finger protein 563							124.0	126.0	126.0					19																	12430217		2203	4300	6503	SO:0001589	frameshift_variant	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12430217delA	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.622delT	19.37:g.12430217delA	ENSP00000293725:p.Trp208fs					ZNF563_ENST00000595977.1_Intron	p.W208fs	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN			4	827	-			208					B2R9E7|Q8NAT7	Frame_Shift_Del	DEL	ENST00000293725.5	37	c.622delT	CCDS12270.1																																																																																				0.393	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		15	848						15	848	---	---	---	---
HAUS8	93323	broad.mit.edu	37	19	17160706	17160707	+	Frame_Shift_Del	DEL	GA	GA	-	rs532006952		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr19:17160706_17160707delGA	ENST00000253669.5	-	11	1399_1400	c.1209_1210delTC	c.(1207-1212)tctcgtfs	p.R404fs	HAUS8_ENST00000593360.1_Frame_Shift_Del_p.R343fs|HAUS8_ENST00000448593.2_Frame_Shift_Del_p.R403fs|CTD-2528A14.3_ENST00000598893.1_RNA			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	404					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CTCCCTGAACGAGAGAGAGAGG	0.495																																						ENST00000593360.1																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						c.(1024-1029)tcgtfs		HAUS augmin-like complex, subunit 8																																				SO:0001589	frameshift_variant	93323				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr19:17160706_17160707delGA	BC004398	CCDS32948.1, CCDS46009.1	19p13.11	2013-10-11	2009-04-20	2009-04-20	ENSG00000131351	ENSG00000131351		"""HAUS augmin-like complex subunits"""	30532	protein-coding gene	gene with protein product		613434	"""HEC1/NDC80 interacting, centrosome associated 1"""	HICE1		19427217	Standard	XM_005260154		Approved	MGC20533, NY-SAR-48	uc002nfe.3	Q9BT25		ENST00000253669.5:c.1209_1210delTC	19.37:g.17160714_17160715delGA	ENSP00000253669:p.Arg404fs					HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs|HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs	p.SR342fs			Q9BT25	HAUS8_HUMAN			10	3044_3045	-			403					B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Frame_Shift_Del	DEL	ENST00000253669.5	37	c.1026_1027delTC	CCDS32948.1																																																																																				0.495	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463015.1	NM_001011699		13	1374						13	1374	---	---	---	---
FFAR2	2867	broad.mit.edu	37	19	35940788	35940790	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr19:35940788_35940790delCTG	ENST00000599180.2	+	2	252_254	c.172_174delCTG	c.(172-174)ctgdel	p.L62del	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del			O15552	FFAR2_HUMAN	free fatty acid receptor 2	62					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGACCTCCTCCTGCTGCTGCTGC	0.645																																					GBM(40;139 809 9833 23358 48736)	ENST00000599180.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22						c.(172-174)del		free fatty acid receptor 2																																				SO:0001651	inframe_deletion	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35940788_35940790delCTG	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.172_174delCTG	19.37:g.35940797_35940799delCTG	ENSP00000473159:p.Leu62del					FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del|FFAR2_ENST00000601590.1_Intron	p.L62del			O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	252_254	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		62					B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	In_Frame_Del	DEL	ENST00000599180.2	37	c.172_174delCTG	CCDS12461.1																																																																																				0.645	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		13	346						13	346	---	---	---	---
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	CCT	-	rs151129136		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr19:38882864_38882866delCCT	ENST00000338502.4	+	3	462_464	c.359_361delCCT	c.(358-363)ccctcc>ccc	p.S128del	SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000587013.1_In_Frame_Del_p.S172del|SPRED3_ENST00000586301.1_In_Frame_Del_p.S128del	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	128	Ser-rich.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.645																																						ENST00000587013.1																			0				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9						c.(490-495)ccc>c		sprouty-related, EVH1 domain containing 3			,	401,4,3395		26,0,349,0,4,1521					,	3.3	0.9		dbSNP_134	44	1035,11,6892		107,0,821,1,9,3031	no	codingComplex,codingComplex	SPRED3	NM_001042522.1,NM_001039616.1	,	133,0,1170,1,13,4552	A1A1,A1A2,A1R,A2A2,A2R,RR		13.1771,10.6579,12.3616	,	,		1436,15,10287				SO:0001651	inframe_deletion	399473				multicellular organismal development			g.chr19:38882864_38882866delCCT		CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.359_361delCCT	19.37:g.38882873_38882875delCCT	ENSP00000345405:p.Ser128del					SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del|SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del	p.PS164del			Q2MJR0	SPRE3_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	569_571	+	all_cancers(60;3.4e-06)		120					Q2MJR1	In_Frame_Del	DEL	ENST00000338502.4	37	c.491_493delCCT	CCDS42560.1																																																																																				0.645	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459216.1	XM_351191		7	189						7	189	---	---	---	---
ERF	2077	broad.mit.edu	37	19	42753149	42753151	+	In_Frame_Del	DEL	GAA	GAA	-	rs199960550		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr19:42753149_42753151delGAA	ENST00000222329.4	-	4	1270_1272	c.1113_1115delTTC	c.(1111-1116)tcttcc>tcc	p.371_372SS>S	ERF_ENST00000440177.2_In_Frame_Del_p.296_297SS>S|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	371	Poly-Ser.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GAATGGGGAGGAAGAAGAAGAAG	0.68																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1111-1116)tcc>tc		Ets2 repressor factor				95,3823		27,41,1891						-1.6	0.9			39	51,7895		7,37,3929	no	coding	ERF	NM_006494.2		34,78,5820	A1A1,A1R,RR		0.6418,2.4247,1.2306				146,11718				SO:0001651	inframe_deletion	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753149_42753151delGAA	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1113_1115delTTC	19.37:g.42753158_42753160delGAA	ENSP00000222329:p.Ser373del					ERF_ENST00000440177.2_In_Frame_Del_p.SS296del|AC006486.9_ENST00000594664.1_Intron	p.SS371del	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1270_1272	-		Prostate(69;0.00682)	371			Poly-Ser.		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	In_Frame_Del	DEL	ENST00000222329.4	37	c.1113_1115delTTC	CCDS12600.1																																																																																				0.680	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		7	940						7	940	---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42838298	42838298	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr19:42838298delG	ENST00000251268.6	+	3	491	c.491delG	c.(490-492)tggfs	p.W164fs	MEGF8_ENST00000334370.4_Frame_Shift_Del_p.W164fs	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	164	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GAGCCGGGCTGGGGGGGTCCT	0.701																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(490-492)tgfs		multiple EGF-like-domains 8							20.0	23.0	22.0					19																	42838298		1997	4139	6136	SO:0001589	frameshift_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42838298delG	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.491delG	19.37:g.42838298delG	ENSP00000251268:p.Trp164fs					MEGF8_ENST00000251268.6_Frame_Shift_Del_p.W164fs	p.W164fs	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			3	1126	+		Prostate(69;0.00682)	164			EGF-like 1.		A8KAY0|O75097	Frame_Shift_Del	DEL	ENST00000251268.6	37	c.491delG																																																																																					0.701	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		9	349						9	349	---	---	---	---
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr19:45911859_45911861delGAA	ENST00000309424.3	+	3	1121_1123	c.633_635delGAA	c.(631-636)cggaag>cgg	p.K217del	ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000588738.1_5'Flank|ERCC1_ENST00000423698.2_3'UTR|PPP1R13L_ENST00000418234.2_5'Flank|CD3EAP_ENST00000589804.1_In_Frame_Del_p.K219del	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	217	Poly-Lys.				rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581																																						ENST00000309424.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						c.(631-636)cgg>cg		CD3e molecule, epsilon associated protein			,,	0,144,4118		0,0,0,13,118,2000					,,	-5.6	0.0			66	5,183,8058		0,0,5,3,177,3938	no	codingComplex,utr-3,utr-3	ERCC1,CD3EAP	NM_012099.1,NM_001983.3,NM_001166049.1	,,	0,0,5,16,295,5938	A1A1,A1A2,A1R,A2A2,A2R,RR		2.2799,3.3787,2.6543	,,	,,		5,327,12176				SO:0001651	inframe_deletion	10849				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	g.chr19:45911859_45911861delGAA	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.633_635delGAA	19.37:g.45911868_45911870delGAA	ENSP00000310966:p.Lys217del					CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del|ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000423698.2_3'UTR	p.RK211del	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	3	1121_1123	+		all_neural(266;0.224)|Ovarian(192;0.231)	211					Q32N11|Q7Z5U2|Q9UPF6	In_Frame_Del	DEL	ENST00000309424.3	37	c.633_635delGAA	CCDS12661.1																																																																																				0.581	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		22	1088						22	1088	---	---	---	---
DMWD	1762	broad.mit.edu	37	19	46289542	46289544	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr19:46289542_46289544delCTC	ENST00000270223.6	-	3	1255_1257	c.1210_1212delGAG	c.(1210-1212)gagdel	p.E404del	AC011530.4_ENST00000593999.1_5'Flank|DMWD_ENST00000601370.1_5'Flank|DMWD_ENST00000377735.3_In_Frame_Del_p.E404del	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	404										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CAGCCTCGGGCTCCTCCTCCTCC	0.695																																						ENST00000270223.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1210-1212)del		dystrophia myotonica, WD repeat containing																																				SO:0001651	inframe_deletion	1762				meiosis			g.chr19:46289542_46289544delCTC	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"""WD repeat domain containing"""	2936	protein-coding gene	gene with protein product		609857	"""dystrophia myotonica-containing WD repeat motif"""			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.1210_1212delGAG	19.37:g.46289551_46289553delCTC	ENSP00000270223:p.Glu404del					DMWD_ENST00000377735.3_In_Frame_Del_p.E404del	p.E404del	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)	3	1255_1257	-		Ovarian(192;0.0308)|all_neural(266;0.112)	404						In_Frame_Del	DEL	ENST00000270223.6	37	c.1210_1212delGAG	CCDS33054.1																																																																																				0.695	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943		7	614						7	614	---	---	---	---
DHX34	9704	broad.mit.edu	37	19	47883158	47883160	+	In_Frame_Del	DEL	GGA	GGA	-	rs533574046|rs539350022	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr19:47883158_47883160delGGA	ENST00000328771.4	+	14	3247_3249	c.2898_2900delGGA	c.(2896-2901)ctggag>ctg	p.E971del		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	971					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGCAGCAGCTGGAGGAGGAGGAG	0.66																																						ENST00000328771.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2896-2901)ctg>ct		DEAH (Asp-Glu-Ala-His) box polypeptide 34																																				SO:0001651	inframe_deletion	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47883158_47883160delGGA	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.2898_2900delGGA	19.37:g.47883167_47883169delGGA	ENSP00000331907:p.Glu971del						p.LE966del	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	14	3247_3249	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	966					B4DMY8	In_Frame_Del	DEL	ENST00000328771.4	37	c.2898_2900delGGA	CCDS12700.1																																																																																				0.660	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		13	463						13	463	---	---	---	---
HRC	3270	broad.mit.edu	37	19	49656769	49656771	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr19:49656769_49656771delCCT	ENST00000252825.4	-	1	1910_1912	c.1724_1726delAGG	c.(1723-1728)gagggg>ggg	p.E575del	HRC_ENST00000595625.1_In_Frame_Del_p.E575del	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	575					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		tcctccagcccctcctcctcctc	0.635																																					Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.(1723-1728)ggg>g		histidine rich calcium binding protein																																				SO:0001651	inframe_deletion	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49656769_49656771delCCT		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1724_1726delAGG	19.37:g.49656778_49656780delCCT	ENSP00000252825:p.Glu575del					HRC_ENST00000595625.1_In_Frame_Del_p.EG575del	p.EG575del	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	1910_1912	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	575					Q504Y6	In_Frame_Del	DEL	ENST00000252825.4	37	c.1724_1726delAGG	CCDS12759.1																																																																																				0.635	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		9	206						9	206	---	---	---	---
FLT3LG	2323	broad.mit.edu	37	19	49978960	49978962	+	In_Frame_Del	DEL	CTG	CTG	-	rs372504451		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr19:49978960_49978962delCTG	ENST00000594009.1	+	2	125_127	c.46_48delCTG	c.(46-48)ctgdel	p.L20del	CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del|CTD-3148I10.15_ENST00000595815.1_RNA|FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del|FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000595510.1_5'UTR	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	20					embryonic hemopoiesis (GO:0035162)|lymphocyte differentiation (GO:0030098)|positive regulation of cell proliferation (GO:0008284)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|membrane (GO:0016020)	receptor binding (GO:0005102)			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CTATCTCCTCCTGCTGCTGCTGC	0.621																																						ENST00000594009.1																			0				large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(46-48)del		fms-related tyrosine kinase 3 ligand																																				SO:0001651	inframe_deletion	0				positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity	g.chr19:49978960_49978962delCTG	U04806	CCDS12767.1, CCDS62753.1	19q13.3	2014-01-30				ENSG00000090554		"""Endogenous ligands"""	3766	protein-coding gene	gene with protein product		600007				8145851, 7824267	Standard	NM_001204502		Approved		uc010yau.2	P49771		ENST00000594009.1:c.46_48delCTG	19.37:g.49978969_49978971delCTG	ENSP00000469613:p.Leu20del					FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000595510.1_5'UTR|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del|FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del	p.L20del	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)	2	125_127	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	20					A0AVC2|B9EGH2|Q05C96	In_Frame_Del	DEL	ENST00000594009.1	37	c.46_48delCTG	CCDS12767.1																																																																																				0.621	FLT3LG-007	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465305.1			9	627						9	627	---	---	---	---
SIGLEC7	27036	broad.mit.edu	37	19	51645628	51645630	+	Start_Codon_Del	DEL	TGC	TGC	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr19:51645628_51645630delTGC	ENST00000317643.6	+	0	71_73				SIGLEC7_ENST00000600577.1_Start_Codon_Del|SIGLEC7_ENST00000305628.7_Start_Codon_Del	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7						cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		ACCCCAGATAtgctgctgctgct	0.596																																						ENST00000317643.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29								sialic acid binding Ig-like lectin 7																																				SO:0001582	initiator_codon_variant	27036				cell adhesion	integral to plasma membrane	receptor activity|sugar binding	g.chr19:51645628_51645630delTGC	AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10876	protein-coding gene	gene with protein product		604410	"""sialic acid binding Ig-like lectin 19, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 2"""	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895		19.37:g.51645637_51645639delTGC						SIGLEC7_ENST00000600577.1_Start_Codon_Del|SIGLEC7_ENST00000305628.7_Start_Codon_Del		NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)	0	71_73	+		all_neural(266;0.0199)						Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Translation_Start_Site	DEL	ENST00000317643.6	37		CCDS12826.1																																																																																				0.596	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464226.2	NM_016543		8	264						8	264	---	---	---	---
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000301187.4_In_Frame_Del_p.E61del|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(199-204)gat>ga		transmembrane channel-like 4			,	38,3,4223		14,0,10,0,3,2105					,	-8.3	0.0			104	37,2,8215		15,0,7,0,2,4103	no	codingComplex,codingComplex	TMC4	NM_144686.2,NM_001145303.1	,	29,0,17,0,5,6208	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4725,0.9615,0.6391	,	,		75,5,12438				SO:0001651	inframe_deletion	147798					integral to membrane		g.chr19:54675747_54675749delTCC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.201_203delGGA	19.37:g.54675756_54675758delTCC	ENSP00000365776:p.Glu67del					TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	p.ED67del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			2	332_334	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		67			Poly-Glu.		Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	ENST00000376591.4	37	c.201_203delGGA	CCDS46174.1																																																																																				0.645	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			21	673						21	673	---	---	---	---
GZF1	64412	broad.mit.edu	37	20	23345921	23345923	+	In_Frame_Del	DEL	GAG	GAG	-	rs547594353	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr20:23345921_23345923delGAG	ENST00000338121.5	+	2	978_980	c.901_903delGAG	c.(901-903)gagdel	p.E306del	GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_In_Frame_Del_p.E306del|GZF1_ENST00000461789.1_3'UTR			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	306					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ggaggaggaagaggaggaggagg	0.532																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(901-903)del		GDNF-inducible zinc finger protein 1				7,68,4189		0,0,7,1,66,2058						-8.0	0.0			52	1,62,8191		0,0,1,3,56,4067	no	codingComplex	GZF1	NM_022482.3		0,0,8,4,122,6125	A1A1,A1A2,A1R,A2A2,A2R,RR		0.7633,1.7589,1.1024				8,130,12380				SO:0001651	inframe_deletion	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23345921_23345923delGAG	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.901_903delGAG	20.37:g.23345930_23345932delGAG	ENSP00000338290:p.Glu306del					GZF1_ENST00000377051.2_In_Frame_Del_p.E306del|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000544236.1_Intron	p.E306del			Q9H116	GZF1_HUMAN			2	978_980	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		306					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	In_Frame_Del	DEL	ENST00000338121.5	37	c.901_903delGAG	CCDS13151.1																																																																																				0.532	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		11	442						11	442	---	---	---	---
ZNF337	26152	broad.mit.edu	37	20	25657231	25657232	+	Frame_Shift_Del	DEL	TG	TG	-	rs200386201		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr20:25657231_25657232delTG	ENST00000376436.1	-	4	1231_1232	c.692_693delCA	c.(691-693)acafs	p.T231fs	ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|RP4-694B14.5_ENST00000421829.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|ZNF337_ENST00000481610.1_5'Flank			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTTCTCTCCTGTGTGTGTGTT	0.51																																						ENST00000376436.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(691-693)afs		zinc finger protein 337																																				SO:0001589	frameshift_variant	26152							g.chr20:25657231_25657232delTG		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.692_693delCA	20.37:g.25657239_25657240delTG	ENSP00000365619:p.Thr231fs					ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|RP4-694B14.5_ENST00000414393.1_RNA	p.T231fs							4	1231_1232	-								B4DSM2|Q9Y3Y5	Frame_Shift_Del	DEL	ENST00000376436.1	37	c.692_693delCA	CCDS13174.1																																																																																				0.510	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			9	541						9	541	---	---	---	---
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	lincRNA	DEL	A	A	-	rs375245697		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363																																						ENST00000416563.1																			0																																																			0							g.chr20:26113543delA																													20.37:g.26113543delA														0	250	-									RNA	DEL	ENST00000416563.1	37																																																																																						0.363	RP13-329D4.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000078482.1			7	30						7	30	---	---	---	---
NCOA6	23054	broad.mit.edu	37	20	33345721	33345723	+	In_Frame_Del	DEL	TGC	TGC	-	rs546356291	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr20:33345721_33345723delTGC	ENST00000374796.2	-	8	3398_3400	c.828_830delGCA	c.(826-831)cagcaa>caa	p.276_277QQ>Q	NCOA6_ENST00000359003.2_In_Frame_Del_p.276_277QQ>Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	276	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ttgctgttgttgctgctgctgct	0.537																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(826-831)caa>ca		nuclear receptor coactivator 6																																				SO:0001651	inframe_deletion	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345721_33345723delTGC	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.828_830delGCA	20.37:g.33345730_33345732delTGC	ENSP00000363929:p.Gln285del					NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ284del	p.QQ284del			Q14686	NCOA6_HUMAN			8	3398_3400	-			284			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	In_Frame_Del	DEL	ENST00000374796.2	37	c.828_830delGCA	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		8	382						8	382	---	---	---	---
SNX21	90203	broad.mit.edu	37	20	44469908	44469908	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr20:44469908delC	ENST00000491381.1	+	4	1146	c.1078delC	c.(1078-1080)cccfs	p.P361fs	SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Intron|SNX21_ENST00000372542.1_Frame_Shift_Del_p.P352fs			Q969T3	SNX21_HUMAN	sorting nexin family member 21	361					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				CCCCACACCACCCCCCAGTCT	0.617																																						ENST00000372542.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(1051-1053)ccfs		sorting nexin family member 21							62.0	70.0	67.0					20																	44469908		2203	4300	6503	SO:0001589	frameshift_variant	90203				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr20:44469908delC	AK095851	CCDS13376.1, CCDS13377.1, CCDS42883.1	20q13.12	2013-01-10	2006-07-24	2006-07-24	ENSG00000124104	ENSG00000124104		"""Sorting nexins"", ""Tetratricopeptide (TTC) repeat domain containing"""	16154	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 161"""	C20orf161		12461558, 12459172	Standard	NM_152897		Approved	dJ337O18.4, SNX-L	uc002xpv.1	Q969T3	OTTHUMG00000032624	ENST00000491381.1:c.1078delC	20.37:g.44469908delC	ENSP00000418593:p.Pro361fs					SNX21_ENST00000491381.1_Frame_Shift_Del_p.P361fs|SNX21_ENST00000342644.5_Intron|SNX21_ENST00000344780.4_3'UTR	p.P352fs			Q969T3	SNX21_HUMAN			3	1363	+		Myeloproliferative disorder(115;0.0122)	361					Q5JZH5|Q5JZH6|Q5JZH7|Q8WUR6|Q9BR16	Frame_Shift_Del	DEL	ENST00000491381.1	37	c.1051delC	CCDS13377.1																																																																																				0.617	SNX21-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079534.1	NM_033421		8	1301						8	1301	---	---	---	---
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	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						p.PK775fs	NM_004975.2	NP_004966.1	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		9	3367						9	3367	---	---	---	---
SALL4	57167	broad.mit.edu	37	20	50408526	50408526	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr20:50408526delG	ENST00000217086.4	-	2	607	c.496delC	c.(496-498)cagfs	p.Q166fs	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Frame_Shift_Del_p.Q166fs|SALL4_ENST00000483130.1_5'UTR	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	166					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTTATGTCCTGGGGGGTGGGT	0.577																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	GRCh37	CM042108	SALL4	M		c.(496-498)agfs		spalt-like transcription factor 4							133.0	137.0	135.0					20																	50408526		2203	4300	6503	SO:0001589	frameshift_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50408526delG	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.496delC	20.37:g.50408526delG	ENSP00000217086:p.Gln166fs					SALL4_ENST00000395997.3_Frame_Shift_Del_p.Q166fs|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'UTR	p.Q166fs	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			2	607	-			166					A2A2D8|Q540H3|Q6Y8G6	Frame_Shift_Del	DEL	ENST00000217086.4	37	c.496delC	CCDS13438.1																																																																																				0.577	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			7	1961						7	1961	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57766219	57766220	+	Frame_Shift_Ins	INS	-	-	C	rs570895195		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr20:57766219_57766220insC	ENST00000371030.2	+	1	145_146	c.145_146insC	c.(145-147)gccfs	p.A49fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	49	Pro-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.T52fs*47(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCAGGGCCTGGCCCCCCCCACT	0.728																																						ENST00000371030.2																			1	Insertion - Frameshift(1)	p.T52fs*47(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(145-147)cccfs		zinc finger protein 831				44,3536		1,42,1747						2.3	0.9			18	50,7732		0,50,3841	no	frameshift	ZNF831	NM_178457.1		1,92,5588	A1A1,A1R,RR		0.6425,1.2291,0.8273				94,11268				SO:0001589	frameshift_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57766219_57766220insC	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.153dupC	20.37:g.57766227_57766227dupC	ENSP00000360069:p.Ala49fs						p.P49fs	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	145_146	+	all_lung(29;0.0085)		49			Pro-rich.		Q5TDR4|Q8TCP0	Frame_Shift_Ins	INS	ENST00000371030.2	37	c.145_146insC	CCDS42894.1																																																																																				0.728	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		8	320						8	320	---	---	---	---
ANKRD20A11P	391267	broad.mit.edu	37	21	15343608	15343609	+	RNA	INS	-	-	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr21:15343608_15343609insA	ENST00000344693.5	-	0	736				RNU6-954P_ENST00000411355.1_RNA	NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		TAAAACAGCAGAAAAAATTAAT	0.272																																						ENST00000344693.5																			0																																																			0							g.chr21:15343608_15343609insA			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15343614_15343614dupA								NR_027270.1						0	736	-									RNA	INS	ENST00000344693.5	37																																																																																						0.272	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			12	372						12	372	---	---	---	---
PTTG1IP	754	broad.mit.edu	37	21	46276194	46276196	+	In_Frame_Del	DEL	GCA	GCA	-	rs375347383		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr21:46276194_46276196delGCA	ENST00000330938.3	-	4	581_583	c.361_363delTGC	c.(361-363)tgcdel	p.C121del	PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	121	Poly-Cys.				multicellular organismal development (GO:0007275)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)			ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		TCTTCCTCCTGCAGCAGCAGCAG	0.616																																						ENST00000330938.3																			0				ovary(1)|prostate(1)	2						c.(361-363)del		pituitary tumor-transforming 1 interacting protein																																				SO:0001651	inframe_deletion	754				protein import into nucleus	cytoplasm|integral to membrane|nucleus		g.chr21:46276194_46276196delGCA	AF149785	CCDS13715.1, CCDS68221.1	21q22.3	2008-07-04			ENSG00000183255	ENSG00000183255			13524	protein-coding gene	gene with protein product		603784		C21orf3, C21orf1		9570958, 10830953	Standard	NM_004339		Approved	PBF	uc002zgb.2	P53801	OTTHUMG00000090254	ENST00000330938.3:c.361_363delTGC	21.37:g.46276203_46276205delGCA	ENSP00000328325:p.Cys121del					PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del|PTTG1IP_ENST00000494690.1_5'UTR	p.C121del	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN		Colorectal(79;0.0659)	4	581_583	-			121			Poly-Cys.		B2RDP7|D3DSL9|Q9NS09	In_Frame_Del	DEL	ENST00000330938.3	37	c.361_363delTGC	CCDS13715.1																																																																																				0.616	PTTG1IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206553.1			11	464						11	464	---	---	---	---
SLC19A1	6573	broad.mit.edu	37	21	46951916	46951918	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr21:46951916_46951918delCAG	ENST00000311124.4	-	3	486_488	c.334_336delCTG	c.(334-336)ctgdel	p.L112del	SLC19A1_ENST00000567670.1_In_Frame_Del_p.L112del|SLC19A1_ENST00000485649.2_In_Frame_Del_p.L72del|SLC19A1_ENST00000380010.4_In_Frame_Del_p.L112del	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	112					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	CCGAGTGGCCCAGCAGCAGCAGC	0.645																																						ENST00000311124.4																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(334-336)del		solute carrier family 19 (folate transporter), member 1			,,	149,4097		7,135,1981					,,	4.9	0.2			27	310,7916		6,298,3809	no	coding,coding,coding	SLC19A1	NM_194255.2,NM_001205207.1,NM_001205206.1	,,	13,433,5790	A1A1,A1R,RR		3.7685,3.5092,3.6802	,,	,,		459,12013				SO:0001651	inframe_deletion	6573				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	g.chr21:46951916_46951918delCAG	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"""Solute carriers"""	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.334_336delCTG	21.37:g.46951925_46951927delCAG	ENSP00000308895:p.Leu112del					SLC19A1_ENST00000380010.4_In_Frame_Del_p.L112del|SLC19A1_ENST00000485649.2_In_Frame_Del_p.L72del|SLC19A1_ENST00000567670.1_In_Frame_Del_p.L112del	p.L112del	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	3	486_488	-			112					B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	In_Frame_Del	DEL	ENST00000311124.4	37	c.334_336delCTG	CCDS13725.1																																																																																				0.645	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1			7	203						7	203	---	---	---	---
MED15	51586	broad.mit.edu	37	22	20918793	20918795	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr22:20918793_20918795delCAG	ENST00000263205.7	+	6	577_579	c.508_510delCAG	c.(508-510)cagdel	p.Q174del	MED15_ENST00000541476.1_In_Frame_Del_p.Q148del|MED15_ENST00000406969.1_In_Frame_Del_p.Q148del|MED15_ENST00000425759.2_In_Frame_Del_p.Q63del|MED15_ENST00000292733.7_In_Frame_Del_p.Q174del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000382974.2_In_Frame_Del_p.Q103del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	174	Poly-Gln.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			gcagcagttccagcagcagcagc	0.616											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(508-510)del		mediator complex subunit 15			,	5,56,4109		0,0,5,0,56,2024					,	3.4	1.0			20	7,128,7953		0,0,7,0,128,3909	no	codingComplex,codingComplex	MED15	NM_015889.3,NM_001003891.1	,	0,0,12,0,184,5933	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6691,1.4628,1.599	,	,		12,184,12062				SO:0001651	inframe_deletion	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20918793_20918795delCAG	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.508_510delCAG	22.37:g.20918802_20918804delCAG	ENSP00000263205:p.Gln174del		OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	744	MED15_ENST00000425759.2_In_Frame_Del_p.Q63del|MED15_ENST00000382974.2_In_Frame_Del_p.Q103del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000292733.7_In_Frame_Del_p.Q174del|MED15_ENST00000541476.1_In_Frame_Del_p.Q148del|MED15_ENST00000406969.1_In_Frame_Del_p.Q148del	p.Q174del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		6	577_579	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	174			Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	ENST00000263205.7	37	c.508_510delCAG	CCDS33602.1																																																																																				0.616	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		7	263						7	263	---	---	---	---
BMS1P20	96610	broad.mit.edu	37	22	22661170	22661170	+	RNA	DEL	T	T	-	rs201084522|rs374690279	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr22:22661170delT	ENST00000426066.1	+	0	262					NR_027293.1				BMS1 pseudogene 20																		AGCATACAGGTTTTCCCCCCC	0.403													|||unknown(NO_COVERAGE)	147	0.029353	0.1074	0.0058	5008	,	,		20372	0.0		0.0	False		,,,				2504	0.001					ENST00000426066.1																			0																																																			0							g.chr22:22661170delT			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661170delT								NR_027293.1						0	262	+									RNA	DEL	ENST00000426066.1	37																																																																																						0.403	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			9	197						9	197	---	---	---	---
ZNRF3	84133	broad.mit.edu	37	22	29445819	29445821	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr22:29445819_29445821delCAG	ENST00000544604.2	+	8	1825_1827	c.1650_1652delCAG	c.(1648-1653)gacagc>gac	p.S557del	ZNRF3_ENST00000406323.3_In_Frame_Del_p.S457del|ZNRF3_ENST00000402174.1_In_Frame_Del_p.S457del|ZNRF3_ENST00000332811.4_In_Frame_Del_p.S457del	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	557					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CAGgcagcgacagcagcagcagc	0.66																																						ENST00000544604.2																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.(1648-1653)gac>ga		zinc and ring finger 3			,	78,3554		2,74,1740					,	5.4	1.0			16	199,7043		14,171,3436	no	coding,coding	ZNRF3	NM_032173.3,NM_001206998.1	,	16,245,5176	A1A1,A1R,RR		2.7479,2.1476,2.5474	,	,		277,10597				SO:0001651	inframe_deletion	84133					integral to membrane	zinc ion binding	g.chr22:29445819_29445821delCAG	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.1650_1652delCAG	22.37:g.29445828_29445830delCAG	ENSP00000443824:p.Ser557del					ZNRF3_ENST00000332811.4_In_Frame_Del_p.DS450del|ZNRF3_ENST00000406323.3_In_Frame_Del_p.DS450del|ZNRF3_ENST00000402174.1_In_Frame_Del_p.DS450del	p.DS550del	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN			8	1825_1827	+			550					B3KU18|Q6ICH1|Q6NTF8|Q8WU18	In_Frame_Del	DEL	ENST00000544604.2	37	c.1650_1652delCAG	CCDS56225.1																																																																																				0.660	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		14	374						14	374	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36696948	36696950	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr22:36696948_36696950delCTC	ENST00000216181.5	-	22	3015_3017	c.2785_2787delGAG	c.(2785-2787)gagdel	p.E929del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	929					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTGGCAGCGCTCCTCCTCCTCC	0.665			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(2785-2787)del		myosin, heavy chain 9, non-muscle																																				SO:0001651	inframe_deletion	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36696948_36696950delCTC		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2785_2787delGAG	22.37:g.36696957_36696959delCTC	ENSP00000216181:p.Glu929del						p.E929del	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			22	3015_3017	-			929					A8K6E4|O60805|Q60FE2|Q86T83	In_Frame_Del	DEL	ENST00000216181.5	37	c.2785_2787delGAG	CCDS13927.1																																																																																				0.665	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		7	783						7	783	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610776	42610778	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chr22:42610776_42610778delTGC	ENST00000359486.3	-	1	670_672	c.534_536delGCA	c.(532-537)cagcaa>caa	p.178_179QQ>Q	TCF20_ENST00000335626.4_In_Frame_Del_p.178_179QQ>Q	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	178	Poly-Gln.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGCTGGACTTGCTGCTGCTGCT	0.571																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(532-537)caa>ca		transcription factor 20 (AR1)																																				SO:0001651	inframe_deletion	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610776_42610778delTGC	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.534_536delGCA	22.37:g.42610785_42610787delTGC	ENSP00000352463:p.Gln179del					TCF20_ENST00000335626.4_In_Frame_Del_p.QQ178del	p.QQ178del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	670_672	-			178			Poly-Gln.		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	In_Frame_Del	DEL	ENST00000359486.3	37	c.534_536delGCA	CCDS14033.1																																																																																				0.571	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		10	439						10	439	---	---	---	---
CNKSR2	22866	broad.mit.edu	37	X	21627678	21627680	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chrX:21627678_21627680delGAG	ENST00000379510.3	+	20	2671_2673	c.2635_2637delGAG	c.(2635-2637)gagdel	p.E886del	CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000425654.2_In_Frame_Del_p.E856del	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	886	Poly-Glu.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ggtggaggaagaggaggaggagg	0.517																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2545-2547)del		connector enhancer of kinase suppressor of Ras 2																																				SO:0001651	inframe_deletion	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627678_21627680delGAG	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2635_2637delGAG	X.37:g.21627687_21627689delGAG	ENSP00000368824:p.Glu886del					CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del	p.E856del	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			19	3025_3027	+			886					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	In_Frame_Del	DEL	ENST00000379510.3	37	c.2545_2547delGAG	CCDS14198.1																																																																																				0.517	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		7	105						7	105	---	---	---	---
CUL4B	8450	broad.mit.edu	37	X	119694117	119694119	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chrX:119694117_119694119delGAG	ENST00000404115.3	-	3	830_832	c.429_431delCTC	c.(427-432)tcctca>tca	p.143_144SS>S	CUL4B_ENST00000336592.6_In_Frame_Del_p.130_131SS>S|CUL4B_ENST00000371322.5_In_Frame_Del_p.125_126SS>S	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	143	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGAAGATgaggaggaggagg	0.488																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(373-378)tca>tc		cullin 4B			,	18,3703		0,6,12,1586,525					,	-9.6	0.5			58	72,6412		1,19,51,2337,1719	no	coding,coding	CUL4B	NM_003588.3,NM_001079872.1	,	1,25,63,3923,2244	A1A1,A1R,A1,RR,R		1.1104,0.4837,0.8819	,	,		90,10115				SO:0001651	inframe_deletion	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119694117_119694119delGAG	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.429_431delCTC	X.37:g.119694126_119694128delGAG	ENSP00000384109:p.Ser146del					CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del|CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del	p.SS127del	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			1	436_438	-			145			Ser-rich.		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	In_Frame_Del	DEL	ENST00000404115.3	37	c.375_377delCTC	CCDS35379.1																																																																																				0.488	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		7	207						7	207	---	---	---	---
MAMLD1	10046	broad.mit.edu	37	X	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chrX:149639633_149639635delGCA	ENST00000370401.2	+	4	2098_2100	c.1788_1790delGCA	c.(1786-1791)ctgcag>ctg	p.Q606del	MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q606del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.Q87del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q581del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	606	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1786-1791)ctg>ct		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639633_149639635delGCA	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1788_1790delGCA	X.37:g.149639642_149639644delGCA	ENSP00000359428:p.Gln606del					MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del	p.LQ596del			Q13495	MAMD1_HUMAN			4	2098_2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		596			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1788_1790delGCA	CCDS14693.2																																																																																				0.611	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		10	428						10	428	---	---	---	---
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433																																						ENST00000370357.4																			2	Substitution - coding silent(2)	p.A229A(2)	lung(2)	breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(685-687)del		PAS domain containing 1																																				SO:0001651	inframe_deletion	139135					nucleus	signal transducer activity	g.chrX:150817142_150817144delGCT	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.685_687delGCT	X.37:g.150817151_150817153delGCT	ENSP00000359382:p.Ala236del						p.A236del	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			9	930_932	+	Acute lymphoblastic leukemia(192;6.56e-05)		236			Poly-Ala.		Q3MNE0|Q69HD7|Q8N7X9	In_Frame_Del	DEL	ENST00000370357.4	37	c.685_687delGCT	CCDS35431.1																																																																																				0.433	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		8	461						8	461	---	---	---	---
MAGEA10	4109	broad.mit.edu	37	X	151303906	151303908	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chrX:151303906_151303908delAGG	ENST00000370323.4	-	4	501_503	c.185_187delCCT	c.(184-189)tcctgc>tgc	p.S62del	MAGEA10_ENST00000244096.3_In_Frame_Del_p.S62del|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	62	Poly-Ser.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGATAGCaggaggaggagga	0.562																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(184-189)tgc>t		melanoma antigen family A, 10																																				SO:0001651	inframe_deletion	4109							g.chrX:151303906_151303908delAGG		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.185_187delCCT	X.37:g.151303915_151303917delAGG	ENSP00000359347:p.Ser62del					MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del|RP11-1007I13.4_ENST00000509345.2_RNA	p.SC62del	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	501_503	-	Acute lymphoblastic leukemia(192;6.56e-05)		62			Poly-Ser.			In_Frame_Del	DEL	ENST00000370323.4	37	c.185_187delCCT	CCDS14705.1																																																																																				0.562	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		11	426						11	426	---	---	---	---
F8	2157	broad.mit.edu	37	X	154157686	154157686	+	Frame_Shift_Del	DEL	T	T	-	rs387906455		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chrX:154157686delT	ENST00000360256.4	-	14	4579	c.4379delA	c.(4378-4380)aatfs	p.N1461fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1461	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.N1460fs*5(2)|p.N1460fs*2(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGAAAGGTTATTTTTTTTGGC	0.413																																						ENST00000360256.4																			4	Deletion - Frameshift(2)|Insertion - Frameshift(2)	p.N1460fs*5(2)|p.N1460fs*2(2)	haematopoietic_and_lymphoid_tissue(2)|breast(2)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CD910498	F8	D		c.(4378-4380)atfs		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						86.0	84.0	85.0					X																	154157686		2203	4300	6503	SO:0001589	frameshift_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157686delT	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4379delA	X.37:g.154157686delT	ENSP00000353393:p.Asn1461fs						p.N1461fs	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	4579	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1461			B.		Q14286|Q5HY69	Frame_Shift_Del	DEL	ENST00000360256.4	37	c.4379delA	CCDS35457.1																																																																																				0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			9	355						9	355	---	---	---	---
SLC9B1P1	100128190	broad.mit.edu	37	Y	13501672	13501674	+	In_Frame_Del	DEL	AAT	AAT	-	rs373544976		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-11A-11D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	10b12113-e06a-4d9d-8bef-1a07df1d94a6	g.chrY:13501672_13501674delAAT	ENST00000331172.6	-	4	534_536	c.535_537delATT	c.(535-537)attdel	p.I179del				A6NJY1	SL9P1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 pseudogene 1	164						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TCTTACCAACAATATTTGATTCA	0.241																																						ENST00000331172.6																			0											c.(535-537)del																																						SO:0001651	inframe_deletion	0							g.chrY:13501672_13501674delAAT			Yq11.21	2013-07-15	2012-03-22	2011-07-26	ENSG00000183704	ENSG00000183704		"""Solute carriers"""	37492	pseudogene	pseudogene			"""Na+/H+ exchanger domain containing 1 pseudogene 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 pseudogene 1"""	NHEDC1P1			Standard	NG_023008		Approved			A6NJY1		ENST00000331172.6:c.535_537delATT	Y.37:g.13501672_13501674delAAT	ENSP00000331938:p.Ile179del						p.I179del							4	534_536	-									In_Frame_Del	DEL	ENST00000331172.6	37	c.535_537delATT																																																																																					0.241	SLC9B1P1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NG_023008		8	20						8	20	---	---	---	---
