#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
KMT2C	58508	broad.mit.edu	37	7	151921114	151921114	+	Nonsense_Mutation	SNP	A	A	T			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr7:151921114A>T	ENST00000262189.6	-	20	3527	c.3309T>A	c.(3307-3309)tgT>tgA	p.C1103*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.C1103*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1103					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.C1103*(10)									CACATTGTCTACATTGCAGAA	0.338																																						ENST00000355193.2																			10	Substitution - Nonsense(10)	p.C1103*(10)	kidney(6)|endometrium(4)								c.(3307-3309)tgT>tgA		lysine (K)-specific methyltransferase 2C							56.0	51.0	52.0					7																	151921114		2203	4300	6503	SO:0001587	stop_gained	58508							g.chr7:151921114A>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3309T>A	7.37:g.151921114A>T	ENSP00000262189:p.Cys1103*					KMT2C_ENST00000262189.6_Nonsense_Mutation_p.C1103*	p.C1103*							20	3527	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.3309T>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	41	8.814636	0.98964	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.39	-2.79	0.05841	.	0.000000	0.50627	D	0.000105	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2367	0.59972	0.4373:0.0:0.5627:0.0	rs4024337	.	.	.	X	1103	.	ENSP00000262189:C1103X	C	-	3	2	MLL3	151552047	0.735000	0.28153	0.983000	0.44433	0.992000	0.81027	-0.154000	0.10130	-0.431000	0.07307	0.528000	0.53228	TGT		0.338	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			5	294	0	0	0	1	0	5	294				
OR3A3	8392	broad.mit.edu	37	17	3324717	3324717	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr17:3324717T>C	ENST00000291231.1	+	1	856	c.856T>C	c.(856-858)Ttc>Ctc	p.F286L		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	286					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						GGTTGGGGTTTTCATGACTGT	0.512																																						ENST00000291231.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						c.(856-858)Ttc>Ctc		olfactory receptor, family 3, subfamily A, member 3							126.0	123.0	124.0					17																	3324717		2203	4300	6503	SO:0001583	missense	8392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3324717T>C	U04688	CCDS11025.1	17p13.3	2012-08-09			ENSG00000159961	ENSG00000159961		"""GPCR / Class A : Olfactory receptors"""	8284	protein-coding gene	gene with protein product				OR3A6, OR3A7, OR3A8P		8004088, 9500546	Standard	NM_012373		Approved	OR17-201, OR17-137, OR17-16	uc010vrd.2	P47888	OTTHUMG00000090649	ENST00000291231.1:c.856T>C	17.37:g.3324717T>C	ENSP00000291231:p.Phe286Leu						p.F286L	NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN			1	856	+			286					Q2VPE4|Q6IFM6|Q9P1Q4|Q9UBE7	Missense_Mutation	SNP	ENST00000291231.1	37	c.856T>C	CCDS11025.1	.	.	.	.	.	.	.	.	.	.	.	0.017	-1.503395	0.00992	.	.	ENSG00000159961	ENST00000291231	T	0.00032	8.88	2.56	0.2	0.15181	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.11000	0.08	0.09310	N	1	B	0.10296	0.003	B	0.17722	0.019	T	0.02526	-1.1146	9	0.24483	T	0.36	.	2.771	0.05334	0.1988:0.2483:0.0:0.5528	.	286	P47888	OR3A3_HUMAN	L	286	ENSP00000291231:F286L	ENSP00000291231:F286L	F	+	1	0	OR3A3	3271467	0.000000	0.05858	0.001000	0.08648	0.763000	0.43281	-0.580000	0.05827	-0.015000	0.14150	0.533000	0.62120	TTC		0.512	OR3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207309.1			158	360	0	0	0	1	0	158	360				
BCO1	53630	broad.mit.edu	37	16	81303936	81303936	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr16:81303936A>G	ENST00000258168.2	+	7	1477	c.1016A>G	c.(1015-1017)aAc>aGc	p.N339S	BCMO1_ENST00000425577.2_Missense_Mutation_p.N270S	NM_017429.2	NP_059125.2														breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						TACCTGGCCAACCTGAACCAG	0.572																																						ENST00000258168.2																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						c.(1015-1017)aAc>aGc		beta-carotene 15,15'-monooxygenase 1							132.0	104.0	114.0					16																	81303936		2202	4300	6502	SO:0001583	missense	53630				retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity	g.chr16:81303936A>G																												ENST00000258168.2:c.1016A>G	16.37:g.81303936A>G	ENSP00000258168:p.Asn339Ser					BCMO1_ENST00000425577.2_Missense_Mutation_p.N270S	p.N339S	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN			7	1477	+			339						Missense_Mutation	SNP	ENST00000258168.2	37	c.1016A>G	CCDS10934.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.273464	0.80580	.	.	ENSG00000135697	ENST00000258168;ENST00000425577	D;D	0.94966	-3.57;-3.57	5.43	4.33	0.51752	.	0.222726	0.44902	D	0.000415	D	0.96134	0.8740	M	0.79614	2.46	0.34431	D	0.698578	D;P	0.56746	0.977;0.952	P;P	0.60117	0.859;0.869	D	0.97631	1.0142	10	0.46703	T	0.11	-50.7749	11.7627	0.51912	0.868:0.0:0.0:0.132	.	270;339	E7EM88;Q9HAY6	.;BCDO1_HUMAN	S	339;270	ENSP00000258168:N339S;ENSP00000400586:N270S	ENSP00000258168:N339S	N	+	2	0	BCMO1	79861437	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.958000	0.76025	0.868000	0.35678	0.529000	0.55759	AAC		0.572	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269056.1			5	258	0	0	0	1	0	5	258				
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16.0	18.0	18.0					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		9	76	0	0	0	1	0	9	76				
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A	rs373469365	byFrequency	TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353													G|||	3	0.000599042	0.0008	0.0	5008	,	,		15081	0.001		0.0	False		,,,				2504	0.001					ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2338-2340)ccG>ccA		RAN binding protein 2							98.0	103.0	101.0					2																	109371498		2198	4282	6480	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371498G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2340G>A	2.37:g.109371498G>A							p.P780P	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			16	2466	+			780					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.2340G>A	CCDS2079.1																																																																																				0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		6	928	0	0	0	1	0	6	928				
NBPF10	100132406	broad.mit.edu	37	1	145311839	145311839	+	Missense_Mutation	SNP	A	A	T	rs58277049	byFrequency	TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr1:145311839A>T	ENST00000369338.1	+	10	1278	c.1088A>T	c.(1087-1089)cAg>cTg	p.Q363L	NBPF10_ENST00000342960.5_Intron|RP11-458D21.5_ENST00000468030.1_Intron|NBPF10_ENST00000369339.3_Intron			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	636						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			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)		CAGGACTCACAGGATAGATGT	0.473																																						ENST00000369338.1																			0				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.(1087-1089)cAg>cTg		neuroblastoma breakpoint family, member 10							10.0	11.0	11.0					1																	145311839		680	1587	2267	SO:0001583	missense	100132406							g.chr1:145311839A>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	ENST00000369338.1:c.1088A>T	1.37:g.145311839A>T	ENSP00000358344:p.Gln363Leu					NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_Intron|NBPF10_ENST00000342960.5_Intron	p.Q363L			A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	10	1278	+	all_hematologic(923;0.032)		636					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369338.1	37	c.1088A>T		.	.	.	.	.	.	.	.	.	.	.	0.003	-2.485476	0.00163	.	.	ENSG00000163386	ENST00000369338;ENST00000369364	T	0.02656	4.21	0.711	-1.31	0.09230	.	.	.	.	.	T	0.00241	0.0007	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.41342	-0.9514	6	0.02654	T	1	.	1.8806	0.03227	0.2946:0.0:0.2966:0.4088	rs58277049	.	.	.	L	363;40	ENSP00000358344:Q363L	ENSP00000358344:Q363L	Q	+	2	0	NBPF10	144023196	0.962000	0.33011	0.001000	0.08648	0.023000	0.10783	0.125000	0.15749	-2.764000	0.00368	-2.525000	0.00183	CAG		0.473	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038552.1	NM_001039703		7	383	0	0	0	1	0	7	383				
PRR25	388199	broad.mit.edu	37	16	863394	863394	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr16:863394A>G	ENST00000301698.1	+	3	742	c.742A>G	c.(742-744)Acc>Gcc	p.T248A		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	248										large_intestine(1)|lung(1)|skin(1)	3						CCCTGGGTCCACCCCGACTCC	0.687																																						ENST00000301698.1																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(742-744)Acc>Gcc		proline rich 25							17.0	22.0	20.0					16																	863394		1988	4126	6114	SO:0001583	missense	388199							g.chr16:863394A>G	BC156145	CCDS45372.1	16p13.3	2009-09-11			ENSG00000167945	ENSG00000167945			37230	protein-coding gene	gene with protein product						11157797	Standard	NM_001013638		Approved	gs64	uc010uut.2	Q96S07		ENST00000301698.1:c.742A>G	16.37:g.863394A>G	ENSP00000301698:p.Thr248Ala						p.T248A	NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN			3	742	+			248						Missense_Mutation	SNP	ENST00000301698.1	37	c.742A>G	CCDS45372.1	.	.	.	.	.	.	.	.	.	.	A	6.904	0.536380	0.13188	.	.	ENSG00000167945	ENST00000301698	T	0.35789	1.29	0.158	0.158	0.14942	.	.	.	.	.	T	0.29093	0.0723	N	0.08118	0	0.09310	N	1	P	0.49696	0.927	P	0.56563	0.801	T	0.17684	-1.0361	8	0.87932	D	0	.	.	.	.	.	248	Q96S07	PRR25_HUMAN	A	248	ENSP00000301698:T248A	ENSP00000301698:T248A	T	+	1	0	PRR25	803395	0.004000	0.15560	0.019000	0.16419	0.019000	0.09904	-0.304000	0.08199	0.175000	0.19841	0.172000	0.16884	ACC		0.687	PRR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440563.1	NM_001013638		7	60	0	0	0	1	0	7	60				
LCT	3938	broad.mit.edu	37	2	136569967	136569967	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr2:136569967C>T	ENST00000264162.2	-	7	2277	c.2267G>A	c.(2266-2268)gGc>gAc	p.G756D	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	756	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.G756D(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TATGGGCATGCCATTCCCGGC	0.438																																						ENST00000264162.2																			1	Substitution - Missense(1)	p.G756D(1)	lung(1)	breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(2266-2268)gGc>gAc		lactase							98.0	100.0	99.0					2																	136569967		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136569967C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2267G>A	2.37:g.136569967C>T	ENSP00000264162:p.Gly756Asp						p.G756D	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	2277	-			756			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.2267G>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908857	0.92107	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	D	0.90620	-2.7	5.66	5.66	0.87406	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97492	0.9179	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98554	1.0638	10	0.87932	D	0	-28.7843	19.76	0.96311	0.0:1.0:0.0:0.0	.	756	P09848	LPH_HUMAN	D	756;188	ENSP00000264162:G756D	ENSP00000264162:G756D	G	-	2	0	LCT	136286437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.793000	0.85851	2.666000	0.90696	0.655000	0.94253	GGC		0.438	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		5	354	0	0	0	1	0	5	354				
IGHV1OR15-9	390531	broad.mit.edu	37	15	20169960	20169960	+	RNA	SNP	G	G	A			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr15:20169960G>A	ENST00000338912.5	-	0	311									immunoglobulin heavy variable 1/OR15-9 (non-functional)																		CAGATCTCAGGCTGCTTAGCT	0.527																																						ENST00000338912.5																			0																				217.0	211.0	213.0					15																	20169960		2112	4224	6336			0							g.chr15:20169960G>A	L25542		15q11.1	2013-10-18	2008-08-22		ENSG00000188403	ENSG00000188403		"""Immunoglobulins / IGH orphons"""	5569	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR15-9"", ""V-set and immunoglobulin domain containing 7"""	VSIG7		7959766	Standard	NG_032069		Approved	IGHV1/OR15-9, IGHV1OR159			OTTHUMG00000171652		15.37:g.20169960G>A														0	311	-									RNA	SNP	ENST00000338912.5	37																																																																																						0.527	IGHV1OR15-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000414646.4			7	748	0	0	0	1	0	7	748				
MYOM2	9172	broad.mit.edu	37	8	2092740	2092740	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr8:2092740G>C	ENST00000262113.4	+	37	4374	c.4233G>C	c.(4231-4233)gaG>gaC	p.E1411D	MYOM2_ENST00000520298.1_3'UTR|MYOM2_ENST00000523438.1_Missense_Mutation_p.E836D	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1411	Ig-like C2-type 5.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TGACCTCCGAGGACTCGGGCA	0.547																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(4231-4233)gaG>gaC		myomesin 2							120.0	101.0	108.0					8																	2092740		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2092740G>C		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.4233G>C	8.37:g.2092740G>C	ENSP00000262113:p.Glu1411Asp					MYOM2_ENST00000523438.1_Missense_Mutation_p.E836D|MYOM2_ENST00000520298.1_3'UTR	p.E1411D	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	37	4374	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	1411			Ig-like C2-type 5.		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.4233G>C	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728725	0.30593	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.45276	0.9;0.9	5.35	4.48	0.54585	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.050365	0.85682	D	0.000000	T	0.36193	0.0958	L	0.49350	1.555	0.39171	D	0.962595	B	0.16166	0.016	B	0.25291	0.059	T	0.22487	-1.0215	10	0.30854	T	0.27	.	8.9072	0.35530	0.239:0.0:0.761:0.0	.	1411	P54296	MYOM2_HUMAN	D	1411;836	ENSP00000262113:E1411D;ENSP00000428396:E836D	ENSP00000262113:E1411D	E	+	3	2	MYOM2	2080147	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.251000	0.32862	1.384000	0.46424	-0.150000	0.13652	GAG		0.547	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		122	131	0	0	0	1	0	122	131				
BAGE2	85319	broad.mit.edu	37	21	11058340	11058340	+	RNA	SNP	A	A	C	rs28617310	byFrequency	TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr21:11058340A>C	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGGTAAAGGAGAGAAATCTC	0.363													a|||	41	0.0081869	0.0136	0.0014	5008	,	,		64928	0.002		0.005	False		,,,				2504	0.0153					ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11058340A>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058340A>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.363	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		30	541	0	0	0	1	0	30	541				
RP2	6102	broad.mit.edu	37	X	46719499	46719499	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chrX:46719499G>C	ENST00000218340.3	+	3	1006	c.845G>C	c.(844-846)cGg>cCg	p.R282P		NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN	retinitis pigmentosa 2 (X-linked recessive)	282			R -> W (might play a role in retinitis pigmentosa 2; reduces affinity for ARL3 3-fold; dbSNP:rs1805147). {ECO:0000269|PubMed:10862093, ECO:0000269|PubMed:10937588, ECO:0000269|PubMed:11462235, ECO:0000269|PubMed:11992260, ECO:0000269|PubMed:14564670}.		cell morphogenesis (GO:0000902)|CTP biosynthetic process (GO:0006241)|cytoskeleton organization (GO:0007010)|GTP biosynthetic process (GO:0006183)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein transport (GO:0015031)|UTP biosynthetic process (GO:0006228)|visual perception (GO:0007601)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|periciliary membrane compartment (GO:1990075)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|nucleoside diphosphate kinase activity (GO:0004550)|unfolded protein binding (GO:0051082)			NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						AGGGTTTTTCGGGAAAAAGCA	0.378																																						ENST00000218340.3																			0				NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						c.(844-846)cGg>cCg		retinitis pigmentosa 2 (X-linked recessive)							101.0	89.0	93.0					X																	46719499		2203	4300	6503	SO:0001583	missense	6102				cell morphogenesis|CTP biosynthetic process|GTP biosynthetic process|protein folding|UTP biosynthetic process|visual perception	cytoplasm|plasma membrane	ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding	g.chrX:46719499G>C	AJ007590	CCDS14270.1	Xp11.3	2013-01-08			ENSG00000102218	ENSG00000102218			10274	protein-coding gene	gene with protein product		300757				6325945, 9697692, 19852809	Standard	NM_006915		Approved	TBCCD2, NME10, NM23-H10	uc004dgw.4	O75695	OTTHUMG00000021430	ENST00000218340.3:c.845G>C	X.37:g.46719499G>C	ENSP00000218340:p.Arg282Pro						p.R282P	NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN			3	1006	+			282		R -> W (might play a role in retinitis pigmentosa 2; reduces affinity for ARL3 3-fold; dbSNP:rs1805147).			Q86XJ7|Q9NU67	Missense_Mutation	SNP	ENST00000218340.3	37	c.845G>C	CCDS14270.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.680988	0.29872	.	.	ENSG00000102218	ENST00000218340	T	0.76316	-1.01	5.18	-1.96	0.07525	.	0.371254	0.31020	N	0.008402	T	0.59211	0.2177	N	0.22421	0.69	0.26142	N	0.980264	B	0.02656	0.0	B	0.01281	0.0	T	0.43410	-0.9393	10	0.22109	T	0.4	-18.3432	12.0577	0.53544	0.8176:0.0:0.1824:0.0	.	282	O75695	XRP2_HUMAN	P	282	ENSP00000218340:R282P	ENSP00000218340:R282P	R	+	2	0	RP2	46604443	1.000000	0.71417	0.769000	0.31535	0.975000	0.68041	0.856000	0.27818	-0.389000	0.07786	0.600000	0.82982	CGG		0.378	RP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056375.1	NM_006915		4	241	0	0	0	1	0	4	241				
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	lincRNA	SNP	C	C	T	rs367060	byFrequency	TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr1:16946434C>T	ENST00000412962.1	-	0	1085				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CTCAGCCTTCCGCCGGGCCAG	0.672													.|||	253	0.0505192	0.115	0.0533	5008	,	,		65734	0.0119		0.0437	False		,,,				2504	0.0082					ENST00000412962.1																			0																																																			0							g.chr1:16946434C>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.16946434C>T														0	1085	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		6	93	0	0	0	1	0	6	93				
STOML3	161003	broad.mit.edu	37	13	39550704	39550704	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr13:39550704T>C	ENST00000379631.4	-	3	546	c.202A>G	c.(202-204)Atc>Gtc	p.I68V	STOML3_ENST00000423210.1_Missense_Mutation_p.I59V	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	68					signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TCAGCTTGGATGCGTCCCAGA	0.458																																						ENST00000379631.4																			0				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11						c.(202-204)Atc>Gtc		stomatin (EPB72)-like 3							102.0	90.0	94.0					13																	39550704		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane		g.chr13:39550704T>C	BC025760	CCDS9367.1, CCDS45040.1	13q13.2	2004-03-05			ENSG00000133115	ENSG00000133115			19420	protein-coding gene	gene with protein product		608327				12122055	Standard	NM_145286		Approved	SRO, Epb7.2l	uc001uwx.3	Q8TAV4	OTTHUMG00000016763	ENST00000379631.4:c.202A>G	13.37:g.39550704T>C	ENSP00000368952:p.Ile68Val					STOML3_ENST00000423210.1_Missense_Mutation_p.I59V	p.I68V	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)	3	546	-		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)	68					B4E285|Q5JS35	Missense_Mutation	SNP	ENST00000379631.4	37	c.202A>G	CCDS9367.1	.	.	.	.	.	.	.	.	.	.	T	18.29	3.591833	0.66219	.	.	ENSG00000133115	ENST00000379631;ENST00000423210	D;D	0.94046	-3.34;-3.34	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.87116	0.6097	N	0.11756	0.17	0.80722	D	1	B;B	0.27951	0.092;0.195	B;B	0.31016	0.123;0.123	D	0.84525	0.0630	10	0.31617	T	0.26	-30.3401	15.0878	0.72167	0.0:0.0:0.0:1.0	.	59;68	B4E285;Q8TAV4	.;STML3_HUMAN	V	68;59	ENSP00000368952:I68V;ENSP00000401989:I59V	ENSP00000368952:I68V	I	-	1	0	STOML3	38448704	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.512000	0.81728	2.230000	0.72887	0.533000	0.62120	ATC		0.458	STOML3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044604.2			12	175	0	0	0	1	0	12	175				
LAMA1	284217	broad.mit.edu	37	18	7044806	7044806	+	Silent	SNP	G	G	A			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr18:7044806G>A	ENST00000389658.3	-	7	984	c.891C>T	c.(889-891)tgC>tgT	p.C297C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	297	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AGCTCTCCCCGCAAGTATTAT	0.448																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(889-891)tgC>tgT		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						118.0	113.0	115.0					18																	7044806		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7044806G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.891C>T	18.37:g.7044806G>A							p.C297C	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			7	984	-		Colorectal(10;0.172)	297			Laminin EGF-like 1.			Silent	SNP	ENST00000389658.3	37	c.891C>T	CCDS32787.1																																																																																				0.448	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		7	719	0	0	0	1	0	7	719				
TMEM106C	79022	broad.mit.edu	37	12	48359115	48359115	+	Missense_Mutation	SNP	C	C	T	rs146483924	byFrequency	TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr12:48359115C>T	ENST00000429772.2	+	3	351	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	TMEM106C_ENST00000552561.1_Missense_Mutation_p.R80C|TMEM106C_ENST00000256686.6_Missense_Mutation_p.R80C|TMEM106C_ENST00000449758.2_Missense_Mutation_p.R80C|TMEM106C_ENST00000552546.1_Intron|TMEM106C_ENST00000550552.1_Missense_Mutation_p.R80C|TMEM106C_ENST00000549288.1_Intron	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	80						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.R80C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		TCAGAGATTGCGCCCTCAGCG	0.408																																						ENST00000429772.2																			1	Substitution - Missense(1)	p.R80C(1)	large_intestine(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14						c.(238-240)Cgc>Tgc		transmembrane protein 106C		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	137.0	119.0	125.0		238,238,238,238	4.4	1.0	12	dbSNP_134	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	TMEM106C	NM_001143841.1,NM_001143842.1,NM_001143843.1,NM_024056.3	180,180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	80/232,80/251,80/232,80/251	48359115	1,13005	2203	4300	6503	SO:0001583	missense	79022					endoplasmic reticulum membrane|integral to membrane		g.chr12:48359115C>T	BC000854	CCDS8758.1, CCDS44867.1	12q13.1	2005-12-19				ENSG00000134291			28775	protein-coding gene	gene with protein product							Standard	NM_024056		Approved	MGC5576	uc001rqr.3	Q9BVX2	OTTHUMG00000169892	ENST00000429772.2:c.238C>T	12.37:g.48359115C>T	ENSP00000400471:p.Arg80Cys					TMEM106C_ENST00000256686.6_Missense_Mutation_p.R80C|TMEM106C_ENST00000552561.1_Missense_Mutation_p.R80C|TMEM106C_ENST00000449758.2_Missense_Mutation_p.R80C|TMEM106C_ENST00000549288.1_Intron|TMEM106C_ENST00000552546.1_Intron|TMEM106C_ENST00000550552.1_Missense_Mutation_p.R80C	p.R80C	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN		GBM - Glioblastoma multiforme(48;0.241)	3	351	+		Acute lymphoblastic leukemia(13;0.11)	80					B2R998|B7Z5M4|Q3B761	Missense_Mutation	SNP	ENST00000429772.2	37	c.238C>T	CCDS8758.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928501	0.92389	0.0	1.16E-4	ENSG00000134291	ENST00000256686;ENST00000552561;ENST00000550552;ENST00000429772;ENST00000449758	T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66	4.37	4.37	0.52481	.	0.156867	0.48767	D	0.000163	T	0.51975	0.1706	M	0.65975	2.015	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.63597	0.916;0.862	T	0.55976	-0.8055	10	0.87932	D	0	0.1116	16.7328	0.85439	0.0:1.0:0.0:0.0	.	80;80	Q9BVX2;Q9BVX2-2	T106C_HUMAN;.	C	80	ENSP00000256686:R80C;ENSP00000446657:R80C;ENSP00000449737:R80C;ENSP00000400471:R80C;ENSP00000402705:R80C	ENSP00000256686:R80C	R	+	1	0	TMEM106C	46645382	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	5.039000	0.64185	2.727000	0.93392	0.655000	0.94253	CGC		0.408	TMEM106C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406452.1	NM_024056		5	555	0	0	0	1	0	5	555				
BMS1	9790	broad.mit.edu	37	10	43318580	43318580	+	Silent	SNP	T	T	A			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr10:43318580T>A	ENST00000374518.5	+	20	3210	c.3147T>A	c.(3145-3147)tcT>tcA	p.S1049S		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1049					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGTTTAATTCTGCCTTGGAAG	0.403																																						ENST00000374518.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3145-3147)tcT>tcA		BMS1 ribosome biogenesis factor							76.0	83.0	81.0					10																	43318580		2203	4297	6500	SO:0001819	synonymous_variant	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43318580T>A	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3147T>A	10.37:g.43318580T>A							p.S1049S	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			20	3210	+			1049					Q5QPT5|Q86XJ9	Silent	SNP	ENST00000374518.5	37	c.3147T>A	CCDS7199.1																																																																																				0.403	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		4	255	0	0	0	1	0	4	255				
PDHA1	5160	broad.mit.edu	37	X	19369427	19369427	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chrX:19369427G>A	ENST00000422285.2	+	4	425	c.320G>A	c.(319-321)gGc>gAc	p.G107D	PDHA1_ENST00000540249.1_Missense_Mutation_p.G107D|PDHA1_ENST00000545074.1_Missense_Mutation_p.G114D|PDHA1_ENST00000379806.5_Missense_Mutation_p.G145D|PDHA1_ENST00000379805.3_Missense_Mutation_p.G107D			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	107					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					CTGGAGGCCGGCATCAACCCC	0.507																																						ENST00000379806.5																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18						c.(433-435)gGc>gAc		pyruvate dehydrogenase (lipoamide) alpha 1	NADH(DB00157)						102.0	94.0	97.0					X																	19369427		2203	4300	6503	SO:0001583	missense	5160				glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	g.chrX:19369427G>A		CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.320G>A	X.37:g.19369427G>A	ENSP00000394382:p.Gly107Asp					PDHA1_ENST00000422285.2_Missense_Mutation_p.G107D|PDHA1_ENST00000540249.1_Missense_Mutation_p.G107D|PDHA1_ENST00000545074.1_Missense_Mutation_p.G114D|PDHA1_ENST00000379805.3_Missense_Mutation_p.G107D	p.G145D	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN			5	579	+	Hepatocellular(33;0.183)		107					A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Missense_Mutation	SNP	ENST00000422285.2	37	c.434G>A	CCDS14192.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770754	0.69992	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000423505;ENST00000422285;ENST00000355808;ENST00000379805	D;D;D;D;D;D;D	0.97114	-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25	5.42	5.42	0.78866	Dehydrogenase, E1 component (1);	0.222797	0.44688	D	0.000430	D	0.97356	0.9135	L	0.49640	1.575	0.37880	D	0.93034	P;P;P;P;P	0.51537	0.464;0.9;0.946;0.46;0.946	B;D;P;P;P	0.63877	0.219;0.919;0.824;0.753;0.824	D	0.99107	1.0845	10	0.72032	D	0.01	-10.0855	13.15	0.59484	0.0:0.307:0.693:0.0	.	107;114;107;145;107	B7Z3X5;B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;.;ODPA_HUMAN	D	145;114;107;145;107;114;107	ENSP00000369134:G145D;ENSP00000438550:G114D;ENSP00000440761:G107D;ENSP00000406473:G145D;ENSP00000394382:G107D;ENSP00000348062:G114D;ENSP00000369133:G107D	ENSP00000348062:G114D	G	+	2	0	PDHA1	19279348	1.000000	0.71417	0.749000	0.31150	0.954000	0.61252	4.260000	0.58835	2.419000	0.82065	0.529000	0.55759	GGC		0.507	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1			6	966	0	0	0	1	0	6	966				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			0							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	69	0	0	0	1	0	3	69				
DRD5	1816	broad.mit.edu	37	4	9784028	9784028	+	Silent	SNP	T	T	C	rs2227841	byFrequency	TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr4:9784028T>C	ENST00000304374.2	+	1	771	c.375T>C	c.(373-375)acT>acC	p.T125T		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	125					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TGTGCTCCACTGCCTCCATCC	0.622													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19985	0.0		0.0	False		,,,				2504	0.0					ENST00000304374.2																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(373-375)acT>acC		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						52.0	50.0	50.0					4																	9784028		2203	4300	6503	SO:0001819	synonymous_variant	0				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784028T>C	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.375T>C	4.37:g.9784028T>C							p.T125T	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	771	+			125					B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	c.375T>C	CCDS3405.1																																																																																				0.622	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			8	194	0	0	0	1	0	8	194				
SP2	6668	broad.mit.edu	37	17	46002859	46002859	+	Silent	SNP	A	A	C			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr17:46002859A>C	ENST00000376741.4	+	6	1830	c.1693A>C	c.(1693-1695)Agg>Cgg	p.R565R	AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000585280.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	565					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						CTGTGGGAAGAGGTTCACACG	0.612																																						ENST00000376741.4																			0				endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(1693-1695)Agg>Cgg		Sp2 transcription factor							152.0	146.0	148.0					17																	46002859		2203	4300	6503	SO:0001819	synonymous_variant	6668				immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding	g.chr17:46002859A>C		CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.1693A>C	17.37:g.46002859A>C						AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000585280.1_RNA	p.R565R	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN			6	1830	+			565					A6NK74	Silent	SNP	ENST00000376741.4	37	c.1693A>C	CCDS11521.2																																																																																				0.612	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110		11	830	0	0	0	1	0	11	830				
TRPV4	59341	broad.mit.edu	37	12	110232234	110232234	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr12:110232234C>T	ENST00000418703.2	-	7	1485	c.1391G>A	c.(1390-1392)cGc>cAc	p.R464H	TRPV4_ENST00000346520.2_Missense_Mutation_p.R404H|TRPV4_ENST00000541794.1_Missense_Mutation_p.R417H|TRPV4_ENST00000392719.2_Missense_Mutation_p.R417H|TRPV4_ENST00000536838.1_Missense_Mutation_p.R430H|TRPV4_ENST00000544971.1_Missense_Mutation_p.R357H|TRPV4_ENST00000261740.2_Missense_Mutation_p.R464H|TRPV4_ENST00000537083.1_Missense_Mutation_p.R404H	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	464					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCCGAACTTGCGCCACTTGTC	0.602																																						ENST00000418703.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(1390-1392)cGc>cAc		transient receptor potential cation channel, subfamily V, member 4							146.0	136.0	140.0					12																	110232234		2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110232234C>T	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1391G>A	12.37:g.110232234C>T	ENSP00000406191:p.Arg464His					TRPV4_ENST00000541794.1_Missense_Mutation_p.R417H|TRPV4_ENST00000544971.1_Missense_Mutation_p.R357H|TRPV4_ENST00000261740.2_Missense_Mutation_p.R464H|TRPV4_ENST00000346520.2_Missense_Mutation_p.R404H|TRPV4_ENST00000392719.2_Missense_Mutation_p.R417H|TRPV4_ENST00000536838.1_Missense_Mutation_p.R430H|TRPV4_ENST00000537083.1_Missense_Mutation_p.R404H	p.R464H	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN			7	1485	-			464					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.1391G>A	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604080	0.66445	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	T;T;T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27	4.5	4.5	0.54988	.	0.191311	0.49916	D	0.000130	T	0.49830	0.1580	N	0.19112	0.55	0.48288	D	0.999628	D;D;D;D;D	0.63046	0.98;0.992;0.989;0.963;0.963	P;P;P;P;P	0.51833	0.681;0.584;0.681;0.536;0.536	T	0.51949	-0.8640	10	0.52906	T	0.07	-28.4829	10.0436	0.42173	0.0:0.9084:0.0:0.0916	.	404;464;357;417;430	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	H	464;464;417;404;357;404;417;430	ENSP00000406191:R464H;ENSP00000261740:R464H;ENSP00000376480:R417H;ENSP00000319003:R404H;ENSP00000443611:R357H;ENSP00000442738:R404H;ENSP00000442167:R417H;ENSP00000444336:R430H	ENSP00000261740:R464H	R	-	2	0	TRPV4	108716617	0.825000	0.29262	1.000000	0.80357	0.996000	0.88848	1.142000	0.31540	2.327000	0.79052	0.561000	0.74099	CGC		0.602	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		5	528	0	0	0	1	0	5	528				
ANKRD17	26057	broad.mit.edu	37	4	73951097	73951097	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr4:73951097G>A	ENST00000358602.4	-	30	7144	c.7028C>T	c.(7027-7029)gCt>gTt	p.A2343V	ANKRD17_ENST00000509867.2_Missense_Mutation_p.A2230V|ANKRD17_ENST00000330838.6_Missense_Mutation_p.A2092V	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2343					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AATGTTTGAAGCAAAGTTTCC	0.428																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(7027-7029)gCt>gTt		ankyrin repeat domain 17							108.0	110.0	109.0					4																	73951097		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73951097G>A	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.7028C>T	4.37:g.73951097G>A	ENSP00000351416:p.Ala2343Val					ANKRD17_ENST00000330838.6_Missense_Mutation_p.A2092V|ANKRD17_ENST00000509867.2_Missense_Mutation_p.A2230V	p.A2343V	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		30	7144	-	Breast(15;0.000295)		2343					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.7028C>T	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807817	0.70797	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.69561	-0.41;-0.39;-0.36	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000003	T	0.78246	0.4253	L	0.43152	1.355	0.42167	D	0.991628	D;D;D;D	0.67145	0.996;0.996;0.993;0.993	D;D;D;D	0.73380	0.98;0.98;0.956;0.935	T	0.78406	-0.2216	10	0.72032	D	0.01	.	20.4375	0.99097	0.0:0.0:1.0:0.0	.	2342;2092;2343;2230	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	V	2343;1750;2092;2230;727	ENSP00000351416:A2343V;ENSP00000332265:A2092V;ENSP00000427151:A2230V	ENSP00000332265:A2092V	A	-	2	0	ANKRD17	74169961	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.103000	0.77014	2.906000	0.99361	0.655000	0.94253	GCT		0.428	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		6	670	0	0	0	1	0	6	670				
CSTF3	1479	broad.mit.edu	37	11	33123878	33123878	+	Missense_Mutation	SNP	T	T	G			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr11:33123878T>G	ENST00000323959.4	-	10	810	c.671A>C	c.(670-672)gAg>gCg	p.E224A	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	224					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						CATTACTGTCTCATATTCCTA	0.423																																						ENST00000323959.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						c.(670-672)gAg>gCg		cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa							83.0	75.0	78.0					11																	33123878		2202	4298	6500	SO:0001583	missense	1479				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr11:33123878T>G	U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"""cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"""			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.671A>C	11.37:g.33123878T>G	ENSP00000315791:p.Glu224Ala					TCP11L1_ENST00000324357.9_Intron	p.E224A	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN			10	810	-			224					A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	ENST00000323959.4	37	c.671A>C	CCDS7883.1	.	.	.	.	.	.	.	.	.	.	T	31	5.082844	0.94050	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.41758	0.99	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.60038	0.2238	M	0.88105	2.93	0.80722	D	1	P	0.37636	0.603	P	0.44477	0.451	T	0.66610	-0.5880	10	0.62326	D	0.03	.	16.1082	0.81241	0.0:0.0:0.0:1.0	.	224	Q12996	CSTF3_HUMAN	A	224;157	ENSP00000315791:E224A	ENSP00000315791:E224A	E	-	2	0	CSTF3	33080454	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.035000	0.88872	2.205000	0.71048	0.482000	0.46254	GAG		0.423	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	NM_001326		10	196	0	0	0	1	0	10	196				
LOC645752	645752	broad.mit.edu	37	15	78208916	78208916	+	lincRNA	SNP	C	C	G	rs56290535	byFrequency	TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr15:78208916C>G	ENST00000565869.1	+	0	53				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							TCCAGATGTTCTCCTCCATCT	0.627													C|||	476	0.0950479	0.0998	0.1023	5008	,	,		17114	0.0675		0.1054	False		,,,				2504	0.1012					ENST00000565869.1																			0																																																			0							g.chr15:78208916C>G																													15.37:g.78208916C>G														0	53	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.627	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			6	204	0	0	0	1	0	6	204				
NECAB3	63941	broad.mit.edu	37	20	32246312	32246312	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr20:32246312C>G	ENST00000246190.6	-	10	1096	c.1041G>C	c.(1039-1041)gaG>gaC	p.E347D	NECAB3_ENST00000606525.1_5'UTR|RP1-63M2.6_ENST00000607224.1_RNA|NECAB3_ENST00000375238.4_Missense_Mutation_p.E313D	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	347	ABM.				protein metabolic process (GO:0019538)|protein secretion (GO:0009306)|regulation of amyloid precursor protein biosynthetic process (GO:0042984)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|Golgi cis cisterna (GO:0000137)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			large_intestine(3)|lung(5)|skin(2)	10						CCTGCCAGAACTCATACAGGG	0.597																																						ENST00000246190.6																			0				large_intestine(3)|lung(5)|skin(2)	10						c.(1039-1041)gaG>gaC		N-terminal EF-hand calcium binding protein 3							161.0	171.0	168.0					20																	32246312		2085	4214	6299	SO:0001583	missense	63941				antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding	g.chr20:32246312C>G	AB039947	CCDS42866.1, CCDS42867.1	20q11.21	2013-01-10	2007-12-06	2007-12-06	ENSG00000125967	ENSG00000125967		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	15851	protein-coding gene	gene with protein product	"""EF-hand calcium binding protein 3"""	612478	"""amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein"""	SYTIP2, APBA2BP		10833507	Standard	NM_031232		Approved	XB51, dJ63M2.4, NIP1, dJ63M2.5, EFCBP3	uc002wzn.4	Q96P71	OTTHUMG00000032264	ENST00000246190.6:c.1041G>C	20.37:g.32246312C>G	ENSP00000246190:p.Glu347Asp					NECAB3_ENST00000606525.1_5'UTR|NECAB3_ENST00000375238.4_Missense_Mutation_p.E313D	p.E347D	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN			10	1096	-			347			ABM.		A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9	Missense_Mutation	SNP	ENST00000246190.6	37	c.1041G>C	CCDS42866.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000381	0.74818	.	.	ENSG00000125967	ENST00000375238;ENST00000246190	T;T	0.47177	0.85;0.85	5.01	4.07	0.47477	Dimeric alpha-beta barrel (1);Antibiotic biosynthesis monooxygenase (1);	0.000000	0.85682	D	0.000000	T	0.67924	0.2945	M	0.81112	2.525	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.71646	-0.4530	10	0.87932	D	0	-9.5867	11.2335	0.48927	0.0:0.9138:0.0:0.0862	.	224;347;313	E1P5N3;Q96P71;Q96P71-2	.;NECA3_HUMAN;.	D	313;347	ENSP00000364386:E313D;ENSP00000246190:E347D	ENSP00000246190:E347D	E	-	3	2	NECAB3	31709973	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	0.824000	0.27379	1.124000	0.41980	0.561000	0.74099	GAG		0.597	NECAB3-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078724.2			27	1032	0	0	0	1	0	27	1032				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		5	176	0	0	0	1	0	5	176				
LRP1	4035	broad.mit.edu	37	12	57603830	57603830	+	Missense_Mutation	SNP	G	G	A	rs375230808		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr12:57603830G>A	ENST00000243077.3	+	81	12924	c.12458G>A	c.(12457-12459)cGc>cAc	p.R4153H		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4153	EGF-like 16. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCATGTGACCGCAAGAAATGC	0.642																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(12457-12459)cGc>cAc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	G	HIS/ARG	0,4406		0,0,2203	86.0	78.0	81.0		12458	4.4	1.0	12		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRP1	NM_002332.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	4153/4545	57603830	1,13005	2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57603830G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.12458G>A	12.37:g.57603830G>A	ENSP00000243077:p.Arg4153His						p.R4153H	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	81	12924	+			4153			EGF-like 16.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.12458G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166274	0.57476	0.0	1.16E-4	ENSG00000123384	ENST00000243077	T	0.36157	1.27	4.44	4.44	0.53790	Growth factor, receptor (1);Epidermal growth factor-like (1);	0.069082	0.52532	D	0.000070	T	0.44244	0.1284	L	0.50333	1.59	0.80722	D	1	D	0.67145	0.996	P	0.51453	0.67	T	0.37957	-0.9683	10	0.45353	T	0.12	.	16.3655	0.83319	0.0:0.0:1.0:0.0	.	4153	Q07954	LRP1_HUMAN	H	4153	ENSP00000243077:R4153H	ENSP00000243077:R4153H	R	+	2	0	LRP1	55890097	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.391000	0.66266	2.497000	0.84241	0.455000	0.32223	CGC		0.642	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		5	422	0	0	0	1	0	5	422				
FLNC	2318	broad.mit.edu	37	7	128470833	128470833	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr7:128470833G>A	ENST00000325888.8	+	1	403	c.142G>A	c.(142-144)Gag>Aag	p.E48K	FLNC_ENST00000346177.6_Missense_Mutation_p.E48K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	48	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTGGTGCAATGAGCACCTCAA	0.652																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(142-144)Gag>Aag		filamin C, gamma							46.0	47.0	46.0					7																	128470833		2202	4300	6502	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128470833G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.142G>A	7.37:g.128470833G>A	ENSP00000327145:p.Glu48Lys					FLNC_ENST00000346177.6_Missense_Mutation_p.E48K	p.E48K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			1	403	+			48			Actin-binding.|CH 1.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.142G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	37	5.986585	0.97173	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.94687	-3.49;-3.49	4.46	4.46	0.54185	Calponin homology domain (5);	0.060270	0.64402	D	0.000005	D	0.96185	0.8756	L	0.54863	1.705	0.58432	D	0.999992	D;D	0.76494	0.999;0.993	D;D	0.81914	0.995;0.988	D	0.96827	0.9608	10	0.87932	D	0	.	16.0334	0.80603	0.0:0.0:1.0:0.0	.	48;48	Q14315-2;Q14315	.;FLNC_HUMAN	K	48	ENSP00000327145:E48K;ENSP00000344002:E48K	ENSP00000327145:E48K	E	+	1	0	FLNC	128258069	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.809000	0.99208	2.186000	0.69663	0.561000	0.74099	GAG		0.652	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			52	104	0	0	0	1	0	52	104				
ZNF559	84527	broad.mit.edu	37	19	9453020	9453020	+	Missense_Mutation	SNP	T	T	C	rs151115651	byFrequency	TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr19:9453020T>C	ENST00000393883.2	+	6	1541	c.893T>C	c.(892-894)gTt>gCt	p.V298A	ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.V218A|ZNF177_ENST00000605471.1_Intron|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.V298A|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000587557.1_Missense_Mutation_p.V362A|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000592896.1_3'UTR	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	298					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						AAACACTATGTTTGTAATGAA	0.358																																						ENST00000393883.2																			0				endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						c.(892-894)gTt>gCt		zinc finger protein 559		T	,ALA/VAL,ALA/VAL,,,,,,,ALA/VAL	0,4406		0,0,2203	89.0	94.0	92.0		,1085,767,,,,,,,893	-2.9	0.0	19	dbSNP_134	92	3,8597	2.2+/-6.3	0,3,4297	yes	intron,missense,missense,utr-3,utr-3,utr-3,utr-3,utr-3,intron,missense	ZNF559,ZNF559-ZNF177	NM_001172650.2,NM_001202406.1,NM_001202407.1,NM_001202408.1,NM_001202409.1,NM_001202410.1,NM_001202411.1,NM_001202412.1,NM_001202425.1,NM_032497.2	,64,64,,,,,,,64	0,3,6500	CC,CT,TT		0.0349,0.0,0.0231	,possibly-damaging,possibly-damaging,,,,,,,possibly-damaging	,362/603,256/497,,,,,,,298/539	9453020	3,13003	2203	4300	6503	SO:0001583	missense	84527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9453020T>C	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.893T>C	19.37:g.9453020T>C	ENSP00000377461:p.Val298Ala					ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.V298A|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000592896.1_3'UTR|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.V218A|ZNF559_ENST00000587557.1_Missense_Mutation_p.V362A|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000605471.1_Intron	p.V298A	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN			6	1541	+			298					K7EMG6	Missense_Mutation	SNP	ENST00000393883.2	37	c.893T>C	CCDS12211.1	.	.	.	.	.	.	.	.	.	.	T	10.96	1.497688	0.26861	0.0	3.49E-4	ENSG00000188321	ENST00000317221;ENST00000538743;ENST00000393883	T;T	0.15139	2.45;2.45	2.22	-2.87	0.05700	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08447	0.0210	N	0.17764	0.52	0.09310	N	1	B;P;B	0.41710	0.435;0.76;0.002	B;B;B	0.38264	0.145;0.269;0.0	T	0.15321	-1.0441	9	0.59425	D	0.04	.	3.0227	0.06080	0.4959:0.2641:0.0:0.24	.	298;298;218	B3KPL8;Q9BR84;B4DP29	.;ZN559_HUMAN;.	A	298;218;298	ENSP00000442832:V218A;ENSP00000377461:V298A	ENSP00000325393:V298A	V	+	2	0	ZNF559	9314020	0.000000	0.05858	0.000000	0.03702	0.211000	0.24417	-5.306000	0.00133	-0.899000	0.03901	0.374000	0.22700	GTT		0.358	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		5	573	0	0	0	1	0	5	573				
FRG1B	284802	broad.mit.edu	37	20	29628320	29628320	+	Nonsense_Mutation	SNP	G	G	T			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr20:29628320G>T	ENST00000278882.3	+	6	702	c.322G>T	c.(322-324)Gaa>Taa	p.E108*	FRG1B_ENST00000358464.4_Nonsense_Mutation_p.E108*|FRG1B_ENST00000439954.2_Nonsense_Mutation_p.E113*			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	108										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGGAGAAGAAGAAATGATCAA	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(322-324)Gaa>Taa																																						SO:0001587	stop_gained	0							g.chr20:29628320G>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.322G>T	20.37:g.29628320G>T	ENSP00000278882:p.Glu108*					FRG1B_ENST00000439954.2_Nonsense_Mutation_p.E113*|FRG1B_ENST00000358464.4_Nonsense_Mutation_p.E108*	p.E108*							6	702	+								C4AME5	Nonsense_Mutation	SNP	ENST00000278882.3	37	c.322G>T		.	.	.	.	.	.	.	.	.	.	g	21.0	4.076413	0.76415	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	.	.	.	2.08	2.08	0.27032	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	.	.	.	X	108;113;108	.	ENSP00000278882:E108X	E	+	1	0	FRG1B	28241981	1.000000	0.71417	1.000000	0.80357	0.425000	0.31504	6.601000	0.74136	1.475000	0.48197	0.423000	0.28283	GAA		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		9	236	1	0	1.33834e-09	1	1.38852e-09	9	236				
SLC4A7	9497	broad.mit.edu	37	3	27444674	27444674	+	Silent	SNP	A	A	G			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr3:27444674A>G	ENST00000295736.5	-	15	2320	c.2250T>C	c.(2248-2250)taT>taC	p.Y750Y	SLC4A7_ENST00000437179.1_Silent_p.Y631Y|SLC4A7_ENST00000445684.1_Silent_p.Y746Y|SLC4A7_ENST00000454389.1_Silent_p.Y759Y|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000440156.1_Silent_p.Y746Y|SLC4A7_ENST00000455077.1_Silent_p.Y631Y|SLC4A7_ENST00000446700.1_Silent_p.Y742Y|SLC4A7_ENST00000428386.1_Silent_p.Y626Y|SLC4A7_ENST00000435667.2_Silent_p.Y635Y|SLC4A7_ENST00000388777.4_Silent_p.Y300Y	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	750					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	TATTAAATGCATATGTTTCTC	0.343																																						ENST00000295736.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(2248-2250)taT>taC		solute carrier family 4, sodium bicarbonate cotransporter, member 7							99.0	99.0	99.0					3																	27444674		2203	4300	6503	SO:0001819	synonymous_variant	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27444674A>G	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.2250T>C	3.37:g.27444674A>G						SLC4A7_ENST00000435667.2_Silent_p.Y635Y|SLC4A7_ENST00000446700.1_Silent_p.Y742Y|SLC4A7_ENST00000445684.1_Silent_p.Y746Y|SLC4A7_ENST00000428386.1_Silent_p.Y626Y|SLC4A7_ENST00000440156.1_Silent_p.Y746Y|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000388777.4_Silent_p.Y300Y|SLC4A7_ENST00000454389.1_Silent_p.Y759Y|SLC4A7_ENST00000455077.1_Silent_p.Y631Y|SLC4A7_ENST00000437179.1_Silent_p.Y631Y	p.Y750Y	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN			15	2320	-			750					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Silent	SNP	ENST00000295736.5	37	c.2250T>C	CCDS33721.1																																																																																				0.343	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		55	516	0	0	0	1	0	55	516				
TFG	10342	broad.mit.edu	37	3	100467317	100467317	+	Missense_Mutation	SNP	C	C	T	rs138185005		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr3:100467317C>T	ENST00000240851.4	+	8	1485	c.1145C>T	c.(1144-1146)gCg>gTg	p.A382V	TFG_ENST00000490574.1_Missense_Mutation_p.A382V|TFG_ENST00000476228.1_Missense_Mutation_p.A378V|TFG_ENST00000418917.2_Missense_Mutation_p.A378V|TFG_ENST00000481203.1_3'UTR	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	382					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						AATCCTTATGCGCGTAACCGT	0.517			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""								C|||	1	0.000199681	0.0008	0.0	5008	,	,		18167	0.0		0.0	False		,,,				2504	0.0					ENST00000240851.4				Dom	yes		3	3q11-q12	10342	T	TRK-fused gene			"""E, L"""	"""NTRK1, ALK"""		"""papillary thyroid, ALCL, NSCLC"""	TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	0				large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						c.(1144-1146)gCg>gTg		TRK-fused gene		C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	88.0	83.0	85.0		1145,1145,1133,1145	5.3	1.0	3	dbSNP_134	85	0,8600		0,0,4300	no	missense,missense,missense,missense	TFG	NM_001007565.2,NM_001195478.1,NM_001195479.1,NM_006070.5	64,64,64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	382/401,382/401,378/397,382/401	100467317	1,13005	2203	4300	6503	SO:0001583	missense	10342				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity	g.chr3:100467317C>T	BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.1145C>T	3.37:g.100467317C>T	ENSP00000240851:p.Ala382Val					TFG_ENST00000476228.1_Missense_Mutation_p.A378V|TFG_ENST00000490574.1_Missense_Mutation_p.A382V|TFG_ENST00000481203.1_3'UTR|TFG_ENST00000418917.2_Missense_Mutation_p.A378V	p.A382V	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN			8	1485	+			382					D3DN49|G5E9V1|Q15656|Q969I2	Missense_Mutation	SNP	ENST00000240851.4	37	c.1145C>T	CCDS2939.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.289705	0.59976	2.27E-4	0.0	ENSG00000114354	ENST00000418917;ENST00000490574;ENST00000240851;ENST00000476228	T;T;T;T	0.58797	0.31;0.32;0.32;0.31	6.16	5.28	0.74379	.	0.157302	0.56097	D	0.000031	T	0.47229	0.1434	L	0.29908	0.895	0.80722	D	1	P;P	0.47604	0.898;0.836	B;B	0.40066	0.318;0.255	T	0.48801	-0.9003	10	0.44086	T	0.13	-3.3983	15.8666	0.79069	0.0:0.9348:0.0:0.0652	.	378;382	G5E9V1;Q92734	.;TFG_HUMAN	V	378;382;382;378	ENSP00000397182:A378V;ENSP00000419960:A382V;ENSP00000240851:A382V;ENSP00000417952:A378V	ENSP00000240851:A382V	A	+	2	0	TFG	101950007	1.000000	0.71417	0.993000	0.49108	0.978000	0.69477	5.293000	0.65680	1.598000	0.50083	0.650000	0.86243	GCG		0.517	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1	NM_006070		5	404	0	0	0	1	0	5	404				
ZNF555	148254	broad.mit.edu	37	19	2852432	2852432	+	Silent	SNP	C	C	T			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr19:2852432C>T	ENST00000334241.4	+	4	507	c.369C>T	c.(367-369)gcC>gcT	p.A123A	ZNF555_ENST00000591539.1_Silent_p.A122A|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	123					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(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGAGAAGCCCTCAGCCAGA	0.378																																						ENST00000334241.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23						c.(367-369)gcC>gcT		zinc finger protein 555							68.0	66.0	67.0					19																	2852432		2203	4300	6503	SO:0001819	synonymous_variant	148254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2852432C>T	AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"""Zinc fingers, C2H2-type"", ""-"""	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.369C>T	19.37:g.2852432C>T						ZNF555_ENST00000591539.1_Silent_p.A122A|AC006130.3_ENST00000589365.1_RNA	p.A123A	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	507	+			123					A8KA89|K7EQM2|Q8NA46|Q96MP1	Silent	SNP	ENST00000334241.4	37	c.369C>T	CCDS12096.1																																																																																				0.378	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3	NM_152791		4	273	0	0	0	1	0	4	273				
C10orf71	118461	broad.mit.edu	37	10	50532454	50532454	+	Nonsense_Mutation	SNP	G	G	T			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr10:50532454G>T	ENST00000374144.3	+	3	2152	c.1864G>T	c.(1864-1866)Gag>Tag	p.E622*	C10orf71_ENST00000323868.4_Nonsense_Mutation_p.E622*			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	622										endometrium(1)	1						GGTGGAAGGAGAGTTGGAGAT	0.552																																						ENST00000374144.3																			0				endometrium(1)	1						c.(1864-1866)Gag>Tag		chromosome 10 open reading frame 71							30.0	31.0	31.0					10																	50532454		1959	4172	6131	SO:0001587	stop_gained	118461							g.chr10:50532454G>T	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1864G>T	10.37:g.50532454G>T	ENSP00000363259:p.Glu622*					C10orf71_ENST00000323868.4_Nonsense_Mutation_p.E622*	p.E622*			Q711Q0	CJ071_HUMAN			3	2152	+			622					A0AVL8	Nonsense_Mutation	SNP	ENST00000374144.3	37	c.1864G>T	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	G	38	6.970568	0.97971	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	.	.	.	5.55	5.55	0.83447	.	0.000000	0.35646	N	0.003061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	10.6207	0.45478	0.1322:0.0:0.8678:0.0	.	.	.	.	X	622	.	ENSP00000318713:E622X	E	+	1	0	C10orf71	50202460	0.488000	0.25996	0.098000	0.21074	0.012000	0.07955	3.248000	0.51430	2.626000	0.88956	0.591000	0.81541	GAG		0.552	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		40	40	1	0	1.52319e-26	1	1.62083e-26	40	40				
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs375625296		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr17:21731144T>G	ENST00000578713.1	+	1	450	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_Missense_Mutation_p.L149R					ubiquitin B pseudogene 4									p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542																																						ENST00000584755.1																			18	Substitution - Missense(18)	p.L149R(18)	endometrium(12)|prostate(6)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(445-447)cTg>cGg																																						SO:0001583	missense	0							g.chr17:21731144T>G	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.446T>G	17.37:g.21731144T>G	ENSP00000464265:p.Leu149Arg					UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR	p.L149R							2	843	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.446T>G																																																																																					0.542	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			6	384	0	0	0	1	0	6	384				
XYLT2	64132	broad.mit.edu	37	17	48432344	48432344	+	Missense_Mutation	SNP	C	C	T	rs200604247		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr17:48432344C>T	ENST00000017003.2	+	4	983	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W	XYLT2_ENST00000507602.1_Missense_Mutation_p.R312W	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	312					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GCGGAGCATGCGGGACCTGCT	0.632																																						ENST00000017003.2																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(934-936)Cgg>Tgg		xylosyltransferase II							83.0	82.0	82.0					17																	48432344		2203	4300	6503	SO:0001583	missense	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48432344C>T	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.934C>T	17.37:g.48432344C>T	ENSP00000017003:p.Arg312Trp					XYLT2_ENST00000507602.1_Missense_Mutation_p.R312W	p.R312W	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN			4	983	+	Breast(11;7.18e-19)		312					Q6UY41|Q86V00	Missense_Mutation	SNP	ENST00000017003.2	37	c.934C>T	CCDS11563.1	.	.	.	.	.	.	.	.	.	.	c	13.73	2.325809	0.41197	.	.	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.12672	2.66;2.66	4.61	3.61	0.41365	.	0.582380	0.18609	N	0.136205	T	0.21145	0.0509	L	0.51422	1.61	0.41164	D	0.986118	D	0.53745	0.962	P	0.51453	0.67	T	0.01541	-1.1329	10	0.87932	D	0	-3.7807	11.1329	0.48358	0.543:0.457:0.0:0.0	.	312	Q9H1B5	XYLT2_HUMAN	W	312	ENSP00000017003:R312W;ENSP00000426501:R312W	ENSP00000017003:R312W	R	+	1	2	XYLT2	45787343	0.919000	0.31177	0.998000	0.56505	0.987000	0.75469	1.097000	0.30988	1.105000	0.41606	0.306000	0.20318	CGG		0.632	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		6	494	0	0	0	1	0	6	494				
NSUN7	79730	broad.mit.edu	37	4	40752940	40752940	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr4:40752940C>G	ENST00000381782.2	+	2	725	c.230C>G	c.(229-231)tCc>tGc	p.S77C	NSUN7_ENST00000316607.5_Missense_Mutation_p.S77C	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	77							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CCCCTGCGGTCCTTGTCCGAG	0.468																																						ENST00000381782.2																			0				NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(229-231)tCc>tGc		NOP2/Sun domain family, member 7							95.0	95.0	95.0					4																	40752940		2203	4300	6503	SO:0001583	missense	79730							g.chr4:40752940C>G	BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"""NOP2/Sun domain containing"""	25857	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family, member 7"""			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.230C>G	4.37:g.40752940C>G	ENSP00000371201:p.Ser77Cys					NSUN7_ENST00000316607.5_Missense_Mutation_p.S77C	p.S77C	NM_024677.4	NP_078953.3					2	725	+								C9JI19|Q8N9K8|Q9H815	Missense_Mutation	SNP	ENST00000381782.2	37	c.230C>G	CCDS3461.2	.	.	.	.	.	.	.	.	.	.	C	9.846	1.192315	0.21954	.	.	ENSG00000179299	ENST00000381782;ENST00000316607	T;T	0.46451	0.87;0.87	4.63	2.89	0.33648	.	0.476104	0.23799	N	0.044453	T	0.54143	0.1840	M	0.69823	2.125	0.09310	N	1	D;D;D	0.69078	0.995;0.997;0.997	P;P;P	0.58970	0.784;0.789;0.849	T	0.46289	-0.9202	10	0.72032	D	0.01	-0.1731	8.1735	0.31268	0.1574:0.7582:0.0:0.0843	.	77;77;77	Q8NE18;Q8NE18-2;Q8NE18-3	NSUN7_HUMAN;.;.	C	77	ENSP00000371201:S77C;ENSP00000319127:S77C	ENSP00000319127:S77C	S	+	2	0	NSUN7	40447697	0.001000	0.12720	0.005000	0.12908	0.016000	0.09150	0.640000	0.24705	0.561000	0.29186	0.467000	0.42956	TCC		0.468	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250454.2	NM_024677		152	356	0	0	0	1	0	152	356				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	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			11	73	0	0	0	1	0	11	73				
NBPF9	400818	broad.mit.edu	37	1	144828704	144828704	+	Missense_Mutation	SNP	T	T	G			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr1:144828704T>G	ENST00000281815.8	+	13	1290	c.544T>G	c.(544-546)Tac>Gac	p.Y182D	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.Y584D			Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	842	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.L657L(3)|p.Y584D(1)		NS(2)|prostate(1)	3						CTTCGCCCTTTACGTGGACAA	0.438																																						ENST00000338347.4																			4	Substitution - coding silent(3)|Substitution - Missense(1)	p.L657L(3)|p.Y584D(1)	prostate(4)	NS(2)|prostate(1)	3						c.(1750-1752)Tac>Gac		neuroblastoma breakpoint family, member 9							35.0	31.0	32.0					1																	144828704		692	1579	2271	SO:0001583	missense	400818							g.chr1:144828704T>G		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000281815.8:c.544T>G	1.37:g.144828704T>G	ENSP00000281815:p.Tyr182Asp					NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000281815.8_Missense_Mutation_p.Y182D|NBPF9_ENST00000468645.1_3'UTR	p.Y584D							14	1750	+									Missense_Mutation	SNP	ENST00000281815.8	37	c.1750T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.001|0.001	-3.386623|-3.386623	0.00014|0.00014	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000375552|ENST00000338347;ENST00000281815	.|T;T	.|0.04194	.|3.68;3.68	0.618|0.618	-1.24|-1.24	0.09435|0.09435	.|.	.|.	.|.	.|.	.|.	T|T	0.00384|0.00384	0.0012|0.0012	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.12013	.|0.0;0.0;0.003;0.001;0.005	.|B;B;B;B;B	.|0.15484	.|0.003;0.001;0.013;0.004;0.01	T|T	0.43114|0.43114	-0.9411|-0.9411	3|7	.|0.02654	.|T	.|1	.|.	.|.	.|.	.|.	.|.	.|648;244;815;590;657	.|Q5VTG8;A8K9F1;B4DG53;Q8IX72;Q5TB04	.|.;.;.;.;.	L|D	657|584;182	.|ENSP00000342975:Y584D;ENSP00000281815:Y182D	.|ENSP00000281815:Y182D	F|Y	+|+	3|1	2|0	NBPF9|NBPF9	143540061|143540061	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.866000|-0.866000	0.04245|0.04245	-1.717000|-1.717000	0.01385|0.01385	-1.365000|-1.365000	0.01206|0.01206	TTT|TAC		0.438	NBPF9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037675		7	645	0	0	0	1	0	7	645				
AKT3	10000	broad.mit.edu	37	1	243736307	243736307	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr1:243736307C>T	ENST00000366539.1	-	9	940	c.740G>A	c.(739-741)cGc>cAc	p.R247H	AKT3_ENST00000366540.1_Missense_Mutation_p.R247H|AKT3_ENST00000263826.5_Missense_Mutation_p.R247H|AKT3_ENST00000336199.5_Missense_Mutation_p.R247H			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	247	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			GAAACGTGTGCGGTCCTCAGA	0.418																																						ENST00000366539.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						c.(739-741)cGc>cAc		v-akt murine thymoma viral oncogene homolog 3							73.0	71.0	72.0					1																	243736307		2203	4300	6503	SO:0001583	missense	10000				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:243736307C>T	AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	393	protein-coding gene	gene with protein product	"""protein kinase B, gamma"""	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.740G>A	1.37:g.243736307C>T	ENSP00000355497:p.Arg247His					AKT3_ENST00000336199.5_Missense_Mutation_p.R247H|AKT3_ENST00000366540.1_Missense_Mutation_p.R247H|AKT3_ENST00000263826.5_Missense_Mutation_p.R247H	p.R247H			Q9Y243	AKT3_HUMAN	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)		9	940	-	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	247			Protein kinase.		Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	ENST00000366539.1	37	c.740G>A	CCDS31077.1	.	.	.	.	.	.	.	.	.	.	C	34	5.395614	0.96009	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.87	5.87	0.94306	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	0.66684	0.2814	N	0.17872	0.535	0.80722	D	1	D;D	0.69078	0.997;0.983	P;P	0.59825	0.864;0.634	T	0.70490	-0.4857	10	0.87932	D	0	.	20.206	0.98277	0.0:1.0:0.0:0.0	.	247;247	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	H	247	ENSP00000336943:R247H;ENSP00000355498:R247H;ENSP00000355497:R247H;ENSP00000263826:R247H	ENSP00000263826:R247H	R	-	2	0	AKT3	241802930	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.785000	0.95823	0.655000	0.94253	CGC		0.418	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096479.1	NM_181690		4	245	0	0	0	1	0	4	245				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		6	798	0	0	0	1	0	6	798				
TRPA1	8989	broad.mit.edu	37	8	72981280	72981280	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr8:72981280C>T	ENST00000262209.4	-	3	629	c.422G>A	c.(421-423)gGc>gAc	p.G141D		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	141					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATTATTCATGCCCTGCACAGC	0.517																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(421-423)gGc>gAc		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						221.0	234.0	230.0					8																	72981280		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72981280C>T	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.422G>A	8.37:g.72981280C>T	ENSP00000262209:p.Gly141Asp						p.G141D	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		3	629	-			141					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.422G>A	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	9.752	1.167764	0.21621	.	.	ENSG00000104321	ENST00000262209	T	0.64260	-0.09	5.74	0.456	0.16655	Ankyrin repeat-containing domain (4);	1.221640	0.05153	N	0.496349	T	0.50616	0.1626	L	0.44542	1.39	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.21552	-1.0242	10	0.23891	T	0.37	-0.0094	5.0455	0.14480	0.1017:0.2567:0.4937:0.148	.	141	O75762	TRPA1_HUMAN	D	141	ENSP00000262209:G141D	ENSP00000262209:G141D	G	-	2	0	TRPA1	73143834	0.000000	0.05858	0.044000	0.18714	0.011000	0.07611	-0.402000	0.07223	0.055000	0.16094	-0.211000	0.12701	GGC		0.517	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		6	756	0	0	0	1	0	6	756				
ARMC4	55130	broad.mit.edu	37	10	28233300	28233300	+	Missense_Mutation	SNP	C	C	G	rs140950719		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr10:28233300C>G	ENST00000305242.5	-	12	1686	c.1594G>C	c.(1594-1596)Gtt>Ctt	p.V532L	ARMC4_ENST00000480504.1_5'Flank|ARMC4_ENST00000537576.1_Missense_Mutation_p.V224L|ARMC4_ENST00000545014.1_Missense_Mutation_p.V57L	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	532					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CCAAGGTCAACAATATTCTGT	0.378																																						ENST00000305242.5																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						c.(1594-1596)Gtt>Ctt		armadillo repeat containing 4							90.0	89.0	90.0					10																	28233300		2203	4300	6503	SO:0001583	missense	55130						binding	g.chr10:28233300C>G	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1594G>C	10.37:g.28233300C>G	ENSP00000306410:p.Val532Leu					ARMC4_ENST00000537576.1_Missense_Mutation_p.V224L|ARMC4_ENST00000545014.1_Missense_Mutation_p.V57L	p.V532L	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN			12	1686	-			532					A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.1594G>C	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311681	0.60414	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	T;T;T	0.51071	0.72;0.72;0.72	5.34	4.42	0.53409	Armadillo-like helical (1);Armadillo-type fold (1);	0.239518	0.41001	D	0.000968	T	0.49236	0.1545	M	0.70275	2.135	0.80722	D	1	B;B	0.32731	0.382;0.382	B;B	0.35607	0.206;0.146	T	0.50923	-0.8770	10	0.39692	T	0.17	-33.4016	13.76	0.62959	0.0:0.9256:0.0:0.0744	.	57;532	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	L	224;532;57	ENSP00000443208:V224L;ENSP00000306410:V532L;ENSP00000441076:V57L	ENSP00000306410:V532L	V	-	1	0	ARMC4	28273306	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.766000	0.68843	2.671000	0.90904	0.585000	0.79938	GTT		0.378	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		7	290	0	0	0	1	0	7	290				
CBWD2	150472	broad.mit.edu	37	2	114212353	114212353	+	Missense_Mutation	SNP	A	A	C			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr2:114212353A>C	ENST00000259199.4	+	6	704	c.526A>C	c.(526-528)Aaa>Caa	p.K176Q	CBWD2_ENST00000416503.2_Missense_Mutation_p.K176Q|CBWD2_ENST00000433343.2_Missense_Mutation_p.K140Q	NM_172003.3	NP_742000.1	Q8IUF1	CBWD2_HUMAN	COBW domain containing 2	176							ATP binding (GO:0005524)			endometrium(1)|lung(1)	2						ATATGGATTAAAAGTAAGTTG	0.269																																						ENST00000433343.2																			0				endometrium(1)|lung(1)	2						c.(418-420)Aaa>Caa		COBW domain containing 2							15.0	15.0	15.0					2																	114212353		2166	4157	6323	SO:0001583	missense	150472						ATP binding|protein binding	g.chr2:114212353A>C	AF452722	CCDS2116.1	2q14.1	2005-08-22			ENSG00000136682	ENSG00000136682			17907	protein-coding gene	gene with protein product		611079				12421752, 15233989	Standard	NM_172003		Approved		uc002tju.3	Q8IUF1	OTTHUMG00000131360	ENST00000259199.4:c.526A>C	2.37:g.114212353A>C	ENSP00000259199:p.Lys176Gln					CBWD2_ENST00000416503.2_Missense_Mutation_p.K176Q|CBWD2_ENST00000259199.4_Missense_Mutation_p.K176Q	p.K140Q			Q8IUF1	CBWD2_HUMAN			7	730	+			176					Q0VAN3	Missense_Mutation	SNP	ENST00000259199.4	37	c.418A>C	CCDS2116.1	.	.	.	.	.	.	.	.	.	.	.	7.117	0.577253	0.13686	.	.	ENSG00000136682	ENST00000259199;ENST00000376448;ENST00000448780;ENST00000416503;ENST00000433343	T;T;T	0.09911	3.09;3.1;2.93	2.85	2.85	0.33270	Cobalamin (vitamin B12) biosynthesis CobW-like (1);	0.221994	0.46442	D	0.000292	T	0.06142	0.0159	N	0.12961	0.28	0.31993	N	0.604374	B;B;B	0.19331	0.018;0.006;0.035	B;B;B	0.24006	0.034;0.02;0.05	T	0.17018	-1.0383	10	0.22706	T	0.39	-1.9497	9.1721	0.37089	1.0:0.0:0.0:0.0	.	140;140;176	B7Z8M0;F8WEG4;Q8IUF1	.;.;CBWD2_HUMAN	Q	176;176;156;176;140	ENSP00000259199:K176Q;ENSP00000411906:K176Q;ENSP00000401945:K140Q	ENSP00000259199:K176Q	K	+	1	0	CBWD2	113928823	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	3.277000	0.51654	1.322000	0.45245	0.327000	0.21459	AAA		0.269	CBWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254149.3	NM_172003		4	223	0	0	0	1	0	4	223				
CDK20	23552	broad.mit.edu	37	9	90585722	90585722	+	Missense_Mutation	SNP	T	T	G			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr9:90585722T>G	ENST00000325303.8	-	4	774	c.469A>C	c.(469-471)Agc>Cgc	p.S157R	CDK20_ENST00000605159.1_Missense_Mutation_p.S157R|CDK20_ENST00000375871.4_Missense_Mutation_p.S157R|CDK20_ENST00000336654.5_Missense_Mutation_p.S170R|CDK20_ENST00000375883.3_Missense_Mutation_p.S157R	NM_001039803.2	NP_001034892.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell division (GO:0051301)|multicellular organismal development (GO:0007275)	cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			skin(1)	1						TAGAGGCGGCTGCCGTCTGGG	0.597																																						ENST00000375883.3																			0				skin(1)	1						c.(469-471)Agc>Cgc		cyclin-dependent kinase 20							42.0	45.0	44.0					9																	90585722		2203	4300	6503	SO:0001583	missense	23552				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr9:90585722T>G	AF035013	CCDS6677.1, CCDS6678.1, CCDS35060.1, CCDS55324.1, CCDS65075.1	9q22.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000156345	ENSG00000156345		"""Cyclin-dependent kinases"""	21420	protein-coding gene	gene with protein product		610076	"""cell cycle related kinase"""	CCRK		19884882	Standard	NM_178432		Approved	p42	uc004apr.3	Q8IZL9	OTTHUMG00000020161	ENST00000325303.8:c.469A>C	9.37:g.90585722T>G	ENSP00000322343:p.Ser157Arg					CDK20_ENST00000336654.5_Missense_Mutation_p.S170R|CDK20_ENST00000375871.4_Missense_Mutation_p.S157R|CDK20_ENST00000325303.8_Missense_Mutation_p.S157R|CDK20_ENST00000605159.1_Missense_Mutation_p.S157R	p.S157R	NM_001170639.1|NM_012119.4|NM_178432.3	NP_001164110.1|NP_036251.2|NP_848519.1	Q8IZL9	CDK20_HUMAN			4	775	-			157			Protein kinase.		A2A389|A2A390|B4DQX1|O95137|Q5EDC4|Q5VYW1|Q9BUF4	Missense_Mutation	SNP	ENST00000325303.8	37	c.469A>C	CCDS35060.1	.	.	.	.	.	.	.	.	.	.	.	12.23	1.874705	0.33069	.	.	ENSG00000156345	ENST00000375883;ENST00000336654;ENST00000375871;ENST00000325303;ENST00000286878	T;T;T;T	0.66280	-0.18;-0.2;-0.2;-0.2	4.52	1.81	0.25067	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.356685	0.29752	N	0.011286	T	0.46464	0.1394	N	0.25286	0.73	0.24947	N	0.991812	B;B;P;B	0.47191	0.059;0.051;0.891;0.005	B;B;P;B	0.45610	0.037;0.148;0.487;0.008	T	0.39121	-0.9629	10	0.72032	D	0.01	-11.2742	4.8018	0.13301	0.0:0.3174:0.0:0.6826	.	157;170;157;157	Q8IZL9-2;A2A390;E7EQ88;Q8IZL9	.;.;.;CDK20_HUMAN	R	157;170;157;157;157	ENSP00000365043:S157R;ENSP00000338975:S170R;ENSP00000365031:S157R;ENSP00000322343:S157R	ENSP00000286878:S157R	S	-	1	0	CDK20	89775542	0.977000	0.34250	1.000000	0.80357	0.667000	0.39255	2.358000	0.44134	0.692000	0.31613	0.398000	0.26397	AGC		0.597	CDK20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214996.1	NM_012119		5	192	0	0	0	1	0	5	192				
KRTAP9-9	81870	broad.mit.edu	37	17	39411940	39411940	+	Silent	SNP	C	C	T	rs368809647		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr17:39411940C>T	ENST00000394008.1	+	1	305	c.303C>T	c.(301-303)ggC>ggT	p.G101G		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	86	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCAGCTGTGGCCAGAGCAGCT	0.617																																						ENST00000394008.1																			0				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(301-303)ggC>ggT		keratin associated protein 9-9							78.0	83.0	81.0					17																	39411940		2203	4297	6500	SO:0001819	synonymous_variant	81870					keratin filament		g.chr17:39411940C>T	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"""Keratin associated proteins"""	16773	protein-coding gene	gene with protein product			"""keratin associated protein 9-5"""	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.303C>T	17.37:g.39411940C>T							p.G101G	NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	305	+		Breast(137;0.000496)	101					B5MDD6|Q9BYQ1	Silent	SNP	ENST00000394008.1	37	c.303C>T	CCDS54127.1																																																																																				0.617	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	NM_030975		7	551	0	0	0	1	0	7	551				
NTNG1	22854	broad.mit.edu	37	1	107867515	107867515	+	Silent	SNP	C	C	T			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr1:107867515C>T	ENST00000370068.1	+	3	1704	c.858C>T	c.(856-858)taC>taT	p.Y286Y	NTNG1_ENST00000370073.2_Silent_p.Y286Y|NTNG1_ENST00000542803.1_Silent_p.Y286Y|NTNG1_ENST00000370061.3_Silent_p.Y286Y|NTNG1_ENST00000370070.2_Silent_p.Y286Y|NTNG1_ENST00000370066.1_Silent_p.Y286Y|NTNG1_ENST00000370072.3_Silent_p.Y286Y|NTNG1_ENST00000370067.1_Silent_p.Y286Y|NTNG1_ENST00000370071.2_Silent_p.Y286Y|NTNG1_ENST00000370065.1_Silent_p.Y286Y|NTNG1_ENST00000370074.4_Silent_p.Y286Y|NTNG1_ENST00000477948.1_3'UTR			Q9Y2I2	NTNG1_HUMAN	netrin G1	286	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)		p.Y286*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GCTACTTTTACGCGATCTCAG	0.458																																						ENST00000370067.1																			1	Substitution - Nonsense(1)	p.Y286*(1)	ovary(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37						c.(856-858)taC>taT		netrin G1							62.0	64.0	63.0					1																	107867515		2203	4298	6501	SO:0001819	synonymous_variant	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:107867515C>T	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.858C>T	1.37:g.107867515C>T						NTNG1_ENST00000370070.2_Silent_p.Y286Y|NTNG1_ENST00000370074.4_Silent_p.Y286Y|NTNG1_ENST00000370072.3_Silent_p.Y286Y|NTNG1_ENST00000370073.2_Silent_p.Y286Y|NTNG1_ENST00000370071.2_Silent_p.Y286Y|NTNG1_ENST00000542803.1_Silent_p.Y286Y|NTNG1_ENST00000370061.3_Silent_p.Y286Y|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370065.1_Silent_p.Y286Y|NTNG1_ENST00000370066.1_Silent_p.Y286Y|NTNG1_ENST00000370068.1_Silent_p.Y286Y	p.Y286Y			Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	3	1485	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	286			Laminin N-terminal.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Silent	SNP	ENST00000370068.1	37	c.858C>T	CCDS44180.1																																																																																				0.458	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		137	138	0	0	0	1	0	137	138				
CALCR	799	broad.mit.edu	37	7	93108681	93108681	+	Missense_Mutation	SNP	C	C	T	rs201986692		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr7:93108681C>T	ENST00000394441.1	-	3	505	c.190G>A	c.(190-192)Gca>Aca	p.A64T	CALCR_ENST00000421592.1_Missense_Mutation_p.A64T|CALCR_ENST00000360249.4_Missense_Mutation_p.A64T|CALCR_ENST00000359558.2_Missense_Mutation_p.A82T|CALCR_ENST00000426151.1_Missense_Mutation_p.A64T	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	82					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	CCTTGGTATGCGGGTAACTGC	0.373																																						ENST00000359558.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45						c.(244-246)Gca>Aca		calcitonin receptor	Salmon Calcitonin(DB00017)						260.0	247.0	251.0					7																	93108681		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	g.chr7:93108681C>T	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.190G>A	7.37:g.93108681C>T	ENSP00000377959:p.Ala64Thr					CALCR_ENST00000360249.4_Missense_Mutation_p.A64T|CALCR_ENST00000426151.1_Missense_Mutation_p.A64T|CALCR_ENST00000394441.1_Missense_Mutation_p.A64T|CALCR_ENST00000421592.1_Missense_Mutation_p.A64T	p.A82T	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		5	543	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		64					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.244G>A	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993707	0.35131	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64	5.22	2.43	0.29744	.	.	.	.	.	T	0.24470	0.0593	N	0.08118	0	0.09310	N	1	B;B	0.17038	0.014;0.02	B;B	0.14023	0.01;0.004	T	0.20974	-1.0259	9	0.22109	T	0.4	.	7.4029	0.26975	0.1535:0.1369:0.7096:0.0	.	82;64	F5H605;A4D1G6	.;.	T	82;64;64;64;64;64	ENSP00000352561:A82T;ENSP00000353385:A64T;ENSP00000399552:A64T;ENSP00000377959:A64T;ENSP00000389295:A64T	ENSP00000352561:A82T	A	-	1	0	CALCR	92946617	0.760000	0.28428	0.027000	0.17364	0.046000	0.14306	1.098000	0.31000	0.450000	0.26774	-0.128000	0.14901	GCA		0.373	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		6	772	0	0	0	1	0	6	772				
TDRD10	126668	broad.mit.edu	37	1	154515294	154515294	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr1:154515294T>C	ENST00000368480.3	+	8	585	c.500T>C	c.(499-501)aTg>aCg	p.M167T	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368482.4_Missense_Mutation_p.M167T			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	167							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCGTTGGAAATGAGGTGAGCA	0.512																																						ENST00000368482.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(499-501)aTg>aCg		tudor domain containing 10							82.0	72.0	75.0					1																	154515294		2203	4300	6503	SO:0001583	missense	126668						nucleotide binding|RNA binding	g.chr1:154515294T>C	AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.500T>C	1.37:g.154515294T>C	ENSP00000357465:p.Met167Thr					TDRD10_ENST00000368480.3_Missense_Mutation_p.M167T|TDRD10_ENST00000479937.1_3'UTR	p.M167T	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		8	1338	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		167					A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Missense_Mutation	SNP	ENST00000368480.3	37	c.500T>C	CCDS41406.1	.	.	.	.	.	.	.	.	.	.	T	12.77	2.037266	0.35893	.	.	ENSG00000163239	ENST00000368482;ENST00000368480	T;T	0.33438	1.45;1.41	3.64	3.64	0.41730	.	0.386172	0.21556	U	0.072652	T	0.09158	0.0226	L	0.32530	0.975	0.24263	N	0.995277	B;B	0.30482	0.281;0.13	B;B	0.29440	0.076;0.102	T	0.11567	-1.0582	10	0.34782	T	0.22	-13.5236	8.6238	0.33877	0.0:0.0:0.0:1.0	.	167;167	Q5VZ19;Q5VZ19-2	TDR10_HUMAN;.	T	167	ENSP00000357467:M167T;ENSP00000357465:M167T	ENSP00000357465:M167T	M	+	2	0	TDRD10	152781918	1.000000	0.71417	0.985000	0.45067	0.894000	0.52154	0.683000	0.25349	1.540000	0.49301	0.369000	0.22263	ATG		0.512	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499		73	75	0	0	0	1	0	73	75				
HEPHL1	341208	broad.mit.edu	37	11	93837734	93837734	+	Missense_Mutation	SNP	G	G	A	rs375859938		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr11:93837734G>A	ENST00000315765.9	+	16	2731	c.2723G>A	c.(2722-2724)cGa>cAa	p.R908Q		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	908					copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATTACATGCCGAAAAGGAGTC	0.333																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(2722-2724)cGa>cAa		hephaestin-like 1		G	GLN/ARG	0,3700		0,0,1850	118.0	112.0	114.0		2723	5.7	1.0	11		114	1,8191		0,1,4095	no	missense	HEPHL1	NM_001098672.1	43	0,1,5945	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging	908/1160	93837734	1,11891	1850	4096	5946	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93837734G>A	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.2723G>A	11.37:g.93837734G>A	ENSP00000313699:p.Arg908Gln						p.R908Q	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			16	2731	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	908					Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.2723G>A	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907253	0.92107	0.0	1.22E-4	ENSG00000181333	ENST00000315765	D	0.98968	-5.28	5.66	5.66	0.87406	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.98741	0.9577	M	0.68952	2.095	0.43953	D	0.996629	D	0.64830	0.994	P	0.58820	0.846	D	0.98977	1.0803	10	0.40728	T	0.16	-15.4094	19.7324	0.96188	0.0:0.0:1.0:0.0	.	908	Q6MZM0	HPHL1_HUMAN	Q	908	ENSP00000313699:R908Q	ENSP00000313699:R908Q	R	+	2	0	HEPHL1	93477382	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	9.273000	0.95719	2.663000	0.90544	0.655000	0.94253	CGA		0.333	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		4	146	0	0	0	1	0	4	146				
OTUD4	54726	broad.mit.edu	37	4	146059041	146059041	+	Silent	SNP	A	A	G			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr4:146059041A>G	ENST00000447906.2	-	21	3073	c.2886T>C	c.(2884-2886)caT>caC	p.H962H	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Silent_p.H897H			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	962					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)					GAGTGGGAGGATGAGCCTTTC	0.478																																						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.(2689-2691)caT>caC		OTU domain containing 4							118.0	118.0	118.0					4																	146059041		2203	4300	6503	SO:0001819	synonymous_variant	54726						protein binding	g.chr4:146059041A>G		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.2886T>C	4.37:g.146059041A>G						OTUD4_ENST00000447906.2_Silent_p.H962H|OTUD4_ENST00000455611.2_Intron	p.H897H	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2828	-	all_hematologic(180;0.151)		961					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37	c.2691T>C																																																																																					0.478	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		5	704	0	0	0	1	0	5	704				
ACP7	390928	broad.mit.edu	37	19	39590923	39590923	+	Missense_Mutation	SNP	C	C	T	rs542948386		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr19:39590923C>T	ENST00000331256.5	+	5	836	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	PAPL_ENST00000594229.1_Intron	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		188						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)										TAGGTTCATGCGGCTCATTGA	0.627																																						ENST00000331256.5																			0											c.(562-564)Cgg>Tgg									125.0	108.0	114.0					19																	39590923		2203	4300	6503	SO:0001583	missense	0					extracellular region	acid phosphatase activity|metal ion binding	g.chr19:39590923C>T																												ENST00000331256.5:c.562C>T	19.37:g.39590923C>T	ENSP00000327557:p.Arg188Trp					PAPL_ENST00000594229.1_Intron	p.R188W	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN			5	836	+			188					B2RN68	Missense_Mutation	SNP	ENST00000331256.5	37	c.562C>T	CCDS33018.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.794425	0.70452	.	.	ENSG00000183760	ENST00000331256	D	0.85556	-2.0	4.75	-0.202	0.13208	Metallophosphoesterase domain (1);	0.121951	0.52532	D	0.000067	D	0.92870	0.7732	H	0.96111	3.77	0.58432	D	0.999993	D	0.76494	0.999	P	0.59761	0.863	D	0.93572	0.6905	10	0.87932	D	0	-18.8007	13.2658	0.60133	0.6425:0.3575:0.0:0.0	.	188	Q6ZNF0	PAPL_HUMAN	W	188	ENSP00000327557:R188W	ENSP00000327557:R188W	R	+	1	2	AC011443.1	44282763	1.000000	0.71417	0.907000	0.35723	0.900000	0.52787	1.203000	0.32284	-0.058000	0.13177	0.655000	0.94253	CGG		0.627	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463810.1			5	499	0	0	0	1	0	5	499				
MYT1	4661	broad.mit.edu	37	20	62839353	62839353	+	Silent	SNP	A	A	G	rs370664533	byFrequency	TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr20:62839353A>G	ENST00000328439.1	+	7	1168	c.804A>G	c.(802-804)gaA>gaG	p.E268E	MYT1_ENST00000536311.1_Silent_p.E268E|MYT1_ENST00000360149.4_Intron	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E268E(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaagaggaggagg	0.572																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			2	Substitution - coding silent(2)	p.E268E(2)	prostate(1)|kidney(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(802-804)gaA>gaG		myelin transcription factor 1							19.0	19.0	19.0					20																	62839353		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839353A>G	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.804A>G	20.37:g.62839353A>G						MYT1_ENST00000328439.1_Silent_p.E268E|MYT1_ENST00000360149.4_Intron	p.E268E			Q01538	MYT1_HUMAN			7	1168	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		268			Glu-rich.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.804A>G	CCDS13558.1																																																																																				0.572	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		4	84	0	0	0	1	0	4	84				
CRIPAK	285464	broad.mit.edu	37	4	1389323	1389323	+	Missense_Mutation	SNP	G	G	A	rs1140011	byFrequency	TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr4:1389323G>A	ENST00000324803.4	+	1	3984	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	342					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGGAGTGCCCGCCTGCTCACA	0.667													-|||	3	0.000599042	0.0	0.0014	5008	,	,		15920	0.002		0.0	False		,,,				2504	0.0					ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(1024-1026)Gcc>Acc		cysteine-rich PAK1 inhibitor		G	THR/ALA	0,4406		0,0,2203	158.0	166.0	163.0		1024	0.7	0.0	4	dbSNP_86	163	3,8597	3.0+/-9.4	0,3,4297	no	missense	CRIPAK	NM_175918.3	58	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	342/447	1389323	3,13003	2203	4300	6503	SO:0001583	missense	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389323G>A	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.1024G>A	4.37:g.1389323G>A	ENSP00000323978:p.Ala342Thr						p.A342T	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3984	+			342					Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	c.1024G>A	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335892	0.41398	0.0	3.49E-4	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.19938	2.11	0.721	0.721	0.18219	.	.	.	.	.	T	0.07234	0.0183	N	0.08118	0	0.18873	N	0.999989	P	0.36065	0.535	B	0.20767	0.031	T	0.30268	-0.9984	9	0.20519	T	0.43	.	7.2686	0.26244	1.0E-4:0.0:0.9999:0.0	rs1140011	342	Q8N1N5	CRPAK_HUMAN	T	342;284	ENSP00000323978:A342T	ENSP00000323978:A342T	A	+	1	0	CRIPAK	1379323	0.000000	0.05858	0.013000	0.15412	0.268000	0.26511	-0.704000	0.05058	0.665000	0.31066	0.196000	0.17591	GCC		0.667	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		17	1381	0	0	0	1	0	17	1381				
MRPL14	64928	broad.mit.edu	37	6	44081762	44081762	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr6:44081762T>C	ENST00000372014.3	-	3	387	c.256A>G	c.(256-258)Att>Gtt	p.I86V		NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14	86					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			TGCCCCACAATGAGCGCCTTT	0.562																																						ENST00000372014.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12						c.(256-258)Att>Gtt		mitochondrial ribosomal protein L14							157.0	159.0	158.0					6																	44081762		2203	4300	6503	SO:0001583	missense	64928				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr6:44081762T>C	AB051339	CCDS34460.1	6p21.3	2012-09-13			ENSG00000180992	ENSG00000180992		"""Mitochondrial ribosomal proteins / large subunits"""	14279	protein-coding gene	gene with protein product		611827					Standard	XM_005249300		Approved	RPML32, MRP-L32	uc003owp.3	Q6P1L8	OTTHUMG00000014756	ENST00000372014.3:c.256A>G	6.37:g.44081762T>C	ENSP00000361084:p.Ile86Val						p.I86V	NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)		3	387	-	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		86					B2R575|Q96Q72	Missense_Mutation	SNP	ENST00000372014.3	37	c.256A>G	CCDS34460.1	.	.	.	.	.	.	.	.	.	.	T	15.77	2.932604	0.52866	.	.	ENSG00000180992	ENST00000372014	.	.	.	5.79	3.38	0.38709	Ribosomal protein L14 domain (2);	0.047456	0.85682	N	0.000000	T	0.21307	0.0513	L	0.31120	0.905	0.46586	D	0.99911	P	0.41978	0.767	B	0.43331	0.416	T	0.05468	-1.0883	9	0.09590	T	0.72	-3.5655	9.7536	0.40490	0.0:0.1407:0.0:0.8593	.	86	Q6P1L8	RM14_HUMAN	V	86	.	ENSP00000361084:I86V	I	-	1	0	MRPL14	44189740	1.000000	0.71417	0.998000	0.56505	0.798000	0.45092	6.295000	0.72744	0.443000	0.26582	0.459000	0.35465	ATT		0.562	MRPL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040707.1	NM_032111		379	361	0	0	0	1	0	379	361				
GET4	51608	broad.mit.edu	37	7	927043	927043	+	Missense_Mutation	SNP	A	A	C	rs545990644		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr7:927043A>C	ENST00000265857.3	+	4	447	c.353A>C	c.(352-354)aAc>aCc	p.N118T	GET4_ENST00000407192.1_Missense_Mutation_p.N65T|RP11-449P15.2_ENST00000609998.1_RNA	NM_015949.2	NP_057033.2	Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	118					tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)				breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ATGGACCCCAACTCTCCTGAG	0.617																																						ENST00000407192.1																			0				breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(193-195)aAc>aCc		golgi to ER traffic protein 4 homolog (S. cerevisiae)							137.0	122.0	127.0					7																	927043		2203	4300	6503	SO:0001583	missense	51608				tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding	g.chr7:927043A>C	AK023560	CCDS5317.1	7p22.3	2010-08-05	2010-03-24	2010-03-24	ENSG00000239857	ENSG00000239857			21690	protein-coding gene	gene with protein product	"""CGI-20 protein"", ""conserved edge protein"", ""transmembrane domain recognition complex, 35kDa"""	612056	"""chromosome 7 open reading frame 20"""	C7orf20		10810093, 20106980, 20676083	Standard	NM_015949		Approved	CGI-20, H_NH1244M04.5, CEE, TRC35	uc003sjl.1	Q7L5D6	OTTHUMG00000112459	ENST00000265857.3:c.353A>C	7.37:g.927043A>C	ENSP00000265857:p.Asn118Thr					GET4_ENST00000265857.3_Missense_Mutation_p.N118T	p.N65T			Q7L5D6	GET4_HUMAN			3	2711	+			118					A4D2Q1|B3KNC7|Q9UFC9|Q9Y309	Missense_Mutation	SNP	ENST00000265857.3	37	c.194A>C	CCDS5317.1	.	.	.	.	.	.	.	.	.	.	a	4.373	0.068684	0.08436	.	.	ENSG00000239857	ENST00000265857;ENST00000412734;ENST00000407192;ENST00000441491;ENST00000426056	T	0.76709	-1.04	5.41	3.03	0.35002	.	0.040904	0.85682	D	0.000000	T	0.59404	0.2191	N	0.17631	0.505	0.80722	D	1	B	0.17268	0.021	B	0.13407	0.009	T	0.43475	-0.9389	10	0.14656	T	0.56	-8.9106	9.5129	0.39087	0.8563:0.0:0.1437:0.0	.	118	Q7L5D6	GET4_HUMAN	T	118;72;65;130;79	ENSP00000265857:N118T	ENSP00000265857:N118T	N	+	2	0	GET4	893569	1.000000	0.71417	0.262000	0.24481	0.838000	0.47535	7.164000	0.77533	0.370000	0.24538	0.454000	0.30748	AAC		0.617	GET4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000231930.1	NM_015949		6	517	0	0	0	1	0	6	517				
WASH6P	653440	broad.mit.edu	37	X	155252868	155252868	+	RNA	SNP	T	T	A			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chrX:155252868T>A	ENST00000461007.1	+	0	1876				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.P304P(5)									TAGCCGAGCCTCTCAAGGCAG	0.632																																						ENST00000285718.7																			5	Substitution - coding silent(5)	p.P304P(5)	kidney(3)|endometrium(2)																																																0							g.chrX:155252868T>A	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155252868T>A						WASH6P_ENST00000461007.1_RNA								0	819	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37																																																																																						0.632	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		19	52	0	0	0	1	0	19	52				
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101								p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.S101N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)aGt>aAt																																						SO:0001583	missense	0							g.chr20:29628300G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.302G>A	20.37:g.29628300G>A	ENSP00000278882:p.Ser101Asn					FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N	p.S101N							6	682	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.302G>A		.	.	.	.	.	.	.	.	.	.	g	10.56	1.384968	0.25031	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	N	0.000001	T	0.33265	0.0857	.	.	.	0.40357	D	0.979199	B;B	0.16802	0.003;0.019	B;B	0.16289	0.007;0.015	T	0.20605	-1.0270	9	0.33940	T	0.23	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	N	101;106;101	ENSP00000408863:S106N	ENSP00000278882:S101N	S	+	2	0	FRG1B	28241961	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.004000	0.40854	1.475000	0.48197	0.423000	0.28283	AGT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		14	297	0	0	0	1	0	14	297				
CFAP44	55779	broad.mit.edu	37	3	113115480	113115480	+	Missense_Mutation	SNP	G	G	A	rs145391746		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr3:113115480G>A	ENST00000295868.2	-	14	1826	c.1664C>T	c.(1663-1665)gCg>gTg	p.A555V	WDR52_ENST00000393845.2_Missense_Mutation_p.A555V|WDR52_ENST00000475568.1_5'UTR	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CTTCCGTCCCGCAAAAATCGT	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		17612	0.0		0.001	False		,,,				2504	0.0					ENST00000393845.2																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						c.(1663-1665)gCg>gTg		WD repeat domain 52		G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	94.0	97.0	96.0		1664,1664	3.5	0.5	3	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	WDR52	NM_001164496.1,NM_018338.3	64,64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign	555/1855,555/983	113115480	2,13004	2203	4300	6503	SO:0001583	missense	55779							g.chr3:113115480G>A																												ENST00000295868.2:c.1664C>T	3.37:g.113115480G>A	ENSP00000295868:p.Ala555Val					WDR52_ENST00000475568.1_5'UTR|WDR52_ENST00000295868.2_Missense_Mutation_p.A555V	p.A555V	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN			14	1730	-			555						Missense_Mutation	SNP	ENST00000295868.2	37	c.1664C>T	CCDS2972.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	7.112	0.576189	0.13623	2.27E-4	1.16E-4	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.65732	-0.17;0.79	5.39	3.55	0.40652	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.	.	.	.	T	0.53802	0.1819	L	0.44542	1.39	0.30702	N	0.750186	B	0.14012	0.009	B	0.08055	0.003	T	0.49194	-0.8965	9	0.28530	T	0.3	.	13.7098	0.62661	0.1466:0.0:0.8534:0.0	.	555	Q96MT7	WDR52_HUMAN	V	555	ENSP00000377428:A555V;ENSP00000295868:A555V	ENSP00000295868:A555V	A	-	2	0	WDR52	114598170	1.000000	0.71417	0.459000	0.27081	0.019000	0.09904	4.380000	0.59581	0.331000	0.23511	-0.797000	0.03246	GCG		0.398	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			5	287	0	0	0	1	0	5	287				
DMXL1	1657	broad.mit.edu	37	5	118525452	118525452	+	Silent	SNP	G	G	A			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr5:118525452G>A	ENST00000311085.8	+	29	7265	c.7185G>A	c.(7183-7185)ccG>ccA	p.P2395P	DMXL1_ENST00000539542.1_Silent_p.P2395P	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2395										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GTTTTAGGCCGTCAAAAATGT	0.408																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(7183-7185)ccG>ccA		Dmx-like 1							105.0	106.0	105.0					5																	118525452		2202	4300	6502	SO:0001819	synonymous_variant	1657							g.chr5:118525452G>A	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.7185G>A	5.37:g.118525452G>A						DMXL1_ENST00000539542.1_Silent_p.P2395P	p.P2395P	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	29	7265	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2395						Silent	SNP	ENST00000311085.8	37	c.7185G>A	CCDS4125.1																																																																																				0.408	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		6	687	0	0	0	1	0	6	687				
KRTAP5-5	439915	broad.mit.edu	37	11	1651241	1651241	+	Silent	SNP	A	A	C			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr11:1651241A>C	ENST00000399676.2	+	1	209	c.171A>C	c.(169-171)ggA>ggC	p.G57G		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	57						keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		gctgtgggggatgtggctccg	0.682																																						ENST00000399676.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(169-171)ggA>ggC		keratin associated protein 5-5							47.0	59.0	55.0					11																	1651241		2188	4272	6460	SO:0001819	synonymous_variant	439915					keratin filament		g.chr11:1651241A>C	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.171A>C	11.37:g.1651241A>C							p.G57G	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	209	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	57					A8MWN2	Silent	SNP	ENST00000399676.2	37	c.171A>C	CCDS41592.1																																																																																				0.682	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			14	288	0	0	0	1	0	14	288				
OR2M3	127062	broad.mit.edu	37	1	248366540	248366540	+	Silent	SNP	C	C	A			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr1:248366540C>A	ENST00000456743.1	+	1	209	c.171C>A	c.(169-171)acC>acA	p.T57T		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	57						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)			AGCTCCACACCCCCATGTACC	0.542																																						ENST00000456743.1																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(169-171)acC>acA		olfactory receptor, family 2, subfamily M, member 3							344.0	319.0	327.0					1																	248366540		2203	4300	6503	SO:0001819	synonymous_variant	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366540C>A		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.171C>A	1.37:g.248366540C>A							p.T57T	NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	209	+	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)		57					B9EH06|Q6IEY0	Silent	SNP	ENST00000456743.1	37	c.171C>A	CCDS31107.1																																																																																				0.542	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		16	932	1	0	2.32078e-09	1	2.39286e-09	16	932				
AHCYL2	23382	broad.mit.edu	37	7	129046281	129046281	+	Silent	SNP	T	T	C			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr7:129046281T>C	ENST00000325006.3	+	10	1323	c.1269T>C	c.(1267-1269)atT>atC	p.I423I	AHCYL2_ENST00000474594.1_Silent_p.I320I|AHCYL2_ENST00000446544.2_Silent_p.I422I|RNU7-16P_ENST00000516471.1_RNA|AHCYL2_ENST00000490911.1_Silent_p.I320I|AHCYL2_ENST00000531335.2_Silent_p.I342I|AHCYL2_ENST00000446212.1_Silent_p.I321I	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	423					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						TAACTGAAATTGACCCCATCT	0.517																																					Pancreas(160;1736 1964 29875 40941 45605)	ENST00000325006.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						c.(1267-1269)atT>atC		adenosylhomocysteinase-like 2							165.0	139.0	147.0					7																	129046281		2203	4300	6503	SO:0001819	synonymous_variant	23382				one-carbon metabolic process		adenosylhomocysteinase activity	g.chr7:129046281T>C	AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"""S-adenosylhomocysteine hydrolase-like 2"""				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.1269T>C	7.37:g.129046281T>C						AHCYL2_ENST00000531335.2_Silent_p.I342I|AHCYL2_ENST00000490911.1_Silent_p.I320I|AHCYL2_ENST00000474594.1_Silent_p.I320I|AHCYL2_ENST00000446544.2_Silent_p.I422I|AHCYL2_ENST00000446212.1_Silent_p.I321I	p.I423I	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN			10	1323	+			423					B4DIZ5|D9N155|O94917	Silent	SNP	ENST00000325006.3	37	c.1269T>C	CCDS5812.1	.	.	.	.	.	.	.	.	.	.	T	11.02	1.514936	0.27123	.	.	ENSG00000158467	ENST00000466924	.	.	.	6.16	-8.48	0.00935	.	.	.	.	.	T	0.49064	0.1535	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56408	-0.7984	4	.	.	.	-15.2213	9.2863	0.37760	0.1992:0.5096:0.0:0.2912	.	.	.	.	S	330	.	.	L	+	2	0	AHCYL2	128833517	0.001000	0.12720	0.545000	0.28153	0.996000	0.88848	-1.523000	0.02235	-1.778000	0.01282	0.528000	0.53228	TTG		0.517	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1			5	581	0	0	0	1	0	5	581				
DISP1	84976	broad.mit.edu	37	1	223176649	223176649	+	Missense_Mutation	SNP	C	C	T	rs148231227		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr1:223176649C>T	ENST00000284476.6	+	8	2074	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	637	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.A637V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GGGGTTTATGCGGGGACAGCT	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21104	0.0		0.0	False		,,,				2504	0.0					ENST00000284476.6																			1	Substitution - Missense(1)	p.A637V(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(1909-1911)gCg>gTg		dispatched homolog 1 (Drosophila)							117.0	107.0	111.0					1																	223176649		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223176649C>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1910C>T	1.37:g.223176649C>T	ENSP00000284476:p.Ala637Val						p.A637V	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	2074	+			637			SSD.		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.1910C>T	CCDS1536.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.67	2.902435	0.52227	.	.	ENSG00000154309	ENST00000284476	D	0.90900	-2.75	5.91	5.91	0.95273	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.95284	0.8470	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.94353	0.7581	10	0.49607	T	0.09	-33.4464	20.2983	0.98569	0.0:1.0:0.0:0.0	.	637	Q96F81	DISP1_HUMAN	V	637	ENSP00000284476:A637V	ENSP00000284476:A637V	A	+	2	0	DISP1	221243272	1.000000	0.71417	0.564000	0.28396	0.121000	0.20230	7.818000	0.86416	2.802000	0.96397	0.655000	0.94253	GCG		0.448	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		5	654	0	0	0	1	0	5	654				
TPTE	7179	broad.mit.edu	37	21	10914388	10914388	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr21:10914388G>A	ENST00000361285.4	-	21	1660	c.1331C>T	c.(1330-1332)tCc>tTc	p.S444F	TPTE_ENST00000298232.7_Missense_Mutation_p.S426F|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S406F	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	444	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGAAATAGTGGAAAAGACAAC	0.328																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(1276-1278)tCc>tTc		transmembrane phosphatase with tensin homology																																				SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10914388G>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1331C>T	21.37:g.10914388G>A	ENSP00000355208:p.Ser444Phe					TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S406F|TPTE_ENST00000361285.4_Missense_Mutation_p.S444F	p.S426F	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	20	1644	-			444			C2 tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1277C>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	1.442	-0.567267	0.03910	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.87029	-2.2;-2.2;-2.2	1.94	0.817	0.18773	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.569474	0.17677	N	0.165770	T	0.74450	0.3718	L	0.31207	0.915	0.09310	N	1	B;B;B	0.17038	0.009;0.02;0.016	B;B;B	0.21546	0.012;0.033;0.035	T	0.56625	-0.7948	10	0.22109	T	0.4	0.0057	3.2709	0.06882	0.4205:0.0:0.5795:0.0	.	406;426;444	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	F	426;444;406	ENSP00000298232:S426F;ENSP00000355208:S444F;ENSP00000344441:S406F	ENSP00000298232:S426F	S	-	2	0	TPTE	9936259	0.055000	0.20627	0.018000	0.16275	0.083000	0.17756	-0.142000	0.10311	0.239000	0.21243	0.184000	0.17185	TCC		0.328	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			9	160	0	0	0	1	0	9	160				
LILRA2	11027	broad.mit.edu	37	19	55086927	55086927	+	Missense_Mutation	SNP	C	C	G	rs560494676	byFrequency	TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr19:55086927C>G	ENST00000251377.3	+	6	993	c.860C>G	c.(859-861)cCc>cGc	p.P287R	LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.P287R|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.P287R|LILRA2_ENST00000391737.1_Missense_Mutation_p.P275R|LILRB1_ENST00000448689.1_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	287	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCTGTGAGCCCCTCCCACGGG	0.637													c|||	7	0.00139776	0.0	0.0029	5008	,	,		16176	0.0		0.0	False		,,,				2504	0.0051					ENST00000251377.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(859-861)cCc>cGc		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							51.0	53.0	52.0					19																	55086927		2203	4299	6502	SO:0001583	missense	0							g.chr19:55086927C>G	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.860C>G	19.37:g.55086927C>G	ENSP00000251377:p.Pro287Arg					LILRA2_ENST00000391737.1_Missense_Mutation_p.P275R|LILRA2_ENST00000391738.3_Missense_Mutation_p.P287R|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.P287R|LILRB1_ENST00000418536.2_Intron	p.P287R						GBM - Glioblastoma multiforme(193;0.0963)	6	993	+								O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.860C>G	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.616861	0.00118	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62	2.8	-5.59	0.02505	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	10.104300	0.00481	N	0.000131	T	0.07052	0.0179	N	0.25144	0.715	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.17098	0.017;0.002;0.002;0.001	T	0.37596	-0.9699	10	0.05959	T	0.93	.	3.4105	0.07356	0.2975:0.4556:0.1328:0.1142	.	287;275;287;287	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	R	287;287;287;287;275	ENSP00000388131:P287R;ENSP00000251377:P287R;ENSP00000375618:P287R;ENSP00000251376:P287R;ENSP00000375617:P275R	ENSP00000251376:P287R	P	+	2	0	LILRA2	59778739	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.336000	0.00507	-2.650000	0.00424	-3.580000	0.00029	CCC		0.637	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			9	414	0	0	0	1	0	9	414				
AMOT	154796	broad.mit.edu	37	X	112058796	112058796	+	Silent	SNP	C	C	T			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chrX:112058796C>T	ENST00000524145.1	-	3	1256	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371959.3_Silent_p.Q394Q			Q4VCS5	AMOT_HUMAN	angiomotin	394					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.Q394Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gctgctgctgctgttgttggt	0.582																																						ENST00000371959.3																			1	Substitution - coding silent(1)	p.Q394Q(1)	lung(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1180-1182)caG>caA		angiomotin							38.0	34.0	36.0					X																	112058796		2203	4300	6503	SO:0001819	synonymous_variant	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112058796C>T	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1182G>A	X.37:g.112058796C>T						AMOT_ENST00000524145.1_Silent_p.Q394Q|AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR	p.Q394Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			2	1181	-			394					Q504X5|Q9HD27|Q9UPT1	Silent	SNP	ENST00000524145.1	37	c.1182G>A	CCDS48154.1																																																																																				0.582	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		6	225	0	0	0	1	0	6	225				
AFAP1	60312	broad.mit.edu	37	4	7840299	7840299	+	Silent	SNP	C	C	T			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr4:7840299C>T	ENST00000360265.4	-	5	912	c.678G>A	c.(676-678)ccG>ccA	p.P226P	AFAP1_ENST00000358461.2_Silent_p.P226P|AFAP1_ENST00000382543.3_Silent_p.P226P|AFAP1_ENST00000420658.1_Silent_p.P226P			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	226	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CGAGAACAAGCGGGTCCGTGC	0.517																																						ENST00000420658.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						c.(676-678)ccG>ccA		actin filament associated protein 1							173.0	159.0	164.0					4																	7840299		2203	4300	6503	SO:0001819	synonymous_variant	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7840299C>T	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.678G>A	4.37:g.7840299C>T						AFAP1_ENST00000382543.3_Silent_p.P226P|AFAP1_ENST00000358461.2_Silent_p.P226P|AFAP1_ENST00000360265.4_Silent_p.P226P	p.P226P	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN			6	950	-			226			PH 1.		A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Silent	SNP	ENST00000360265.4	37	c.678G>A	CCDS3397.1																																																																																				0.517	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		8	509	0	0	0	1	0	8	509				
CYP2E1	1571	broad.mit.edu	37	10	135346341	135346341	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr10:135346341T>C	ENST00000463117.2	+	7	1066	c.794T>C	c.(793-795)cTc>cCc	p.L265P	CYP2E1_ENST00000252945.3_Missense_Mutation_p.L265P|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	265					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CCCCGGGACCTCACCGACTGC	0.517									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													ENST00000463117.2																			0				NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(793-795)cTc>cCc		cytochrome P450, family 2, subfamily E, polypeptide 1	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)						62.0	61.0	61.0					10																	135346341		2203	4300	6503	SO:0001583	missense	1571	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding	g.chr10:135346341T>C	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.794T>C	10.37:g.135346341T>C	ENSP00000440689:p.Leu265Pro					CYP2E1_ENST00000252945.3_Missense_Mutation_p.L265P|SPRN_ENST00000541506.1_Intron	p.L265P			P05181	CP2E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	7	1066	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	265					Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	ENST00000463117.2	37	c.794T>C	CCDS7686.1	.	.	.	.	.	.	.	.	.	.	T	12.65	2.001059	0.35320	.	.	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586;ENST00000418356	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	4.48	4.48	0.54585	.	0.300594	0.41938	D	0.000789	D	0.82370	0.5022	M	0.75150	2.29	0.41272	D	0.986858	D;D	0.89917	1.0;0.987	D;P	0.85130	0.997;0.855	D	0.84750	0.0756	10	0.87932	D	0	.	12.3962	0.55386	0.0:0.0:0.0:1.0	.	161;265	Q59EW1;P05181	.;CP2E1_HUMAN	P	265;265;178;128	ENSP00000440689:L265P;ENSP00000252945:L265P;ENSP00000412754:L178P;ENSP00000397299:L128P	ENSP00000252945:L265P	L	+	2	0	CYP2E1	135196331	0.629000	0.27146	0.008000	0.14137	0.025000	0.11179	1.129000	0.31381	2.246000	0.74042	0.533000	0.62120	CTC		0.517	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773		4	234	0	0	0	1	0	4	234				
TNFRSF11A	8792	broad.mit.edu	37	18	60036335	60036335	+	Silent	SNP	C	C	T			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr18:60036335C>T	ENST00000586569.1	+	9	1223	c.1185C>T	c.(1183-1185)agC>agT	p.S395S	TNFRSF11A_ENST00000269485.7_Intron	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	395					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				GGACACAGAGCACAGTGGGTT	0.532																																						ENST00000586569.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1183-1185)agC>agT		tumor necrosis factor receptor superfamily, member 11a, NFKB activator							66.0	62.0	63.0					18																	60036335		2203	4300	6503	SO:0001819	synonymous_variant	8792				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	g.chr18:60036335C>T	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11908	protein-coding gene	gene with protein product		603499	"""tumor necrosis factor receptor superfamily, member 11a, activator of NFKB"", ""Paget disease of bone 2"", ""loss of heterozygosity, 18, chromosomal region 1"""	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.1185C>T	18.37:g.60036335C>T						TNFRSF11A_ENST00000269485.7_Intron	p.S395S	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN			9	1223	+		Colorectal(73;0.188)	395					I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Silent	SNP	ENST00000586569.1	37	c.1185C>T	CCDS11980.1																																																																																				0.532	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			21	274	0	0	0	1	0	21	274				
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(982-984)ccT>ccC		mucin 16, cell surface associated							96.0	95.0	96.0					19																	9090831		2041	4195	6236	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090831A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.984T>C	19.37:g.9090831A>G							p.P328P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	1187	-			328			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.984T>C	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	352	0	0	0	1	0	4	352				
ZNF681	148213	broad.mit.edu	37	19	23926745	23926745	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr19:23926745C>A	ENST00000402377.3	-	4	1748	c.1607G>T	c.(1606-1608)tGt>tTt	p.C536F	ZNF681_ENST00000395385.3_Missense_Mutation_p.C467F	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	536					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACATTCTTCACATGTGTAGGG	0.378																																						ENST00000402377.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21						c.(1606-1608)tGt>tTt		zinc finger protein 681							44.0	48.0	47.0					19																	23926745		2202	4296	6498	SO:0001583	missense	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23926745C>A	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1607G>T	19.37:g.23926745C>A	ENSP00000384000:p.Cys536Phe					ZNF681_ENST00000395385.3_Missense_Mutation_p.C467F	p.C536F	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN			4	1748	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	536					B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	c.1607G>T	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	7.046	0.563475	0.13498	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	D;D	0.85088	-1.94;-1.94	1.51	0.376	0.16193	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92215	0.7531	M	0.92880	3.355	0.09310	N	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.80747	-0.1244	9	0.87932	D	0	.	5.4817	0.16727	0.0:0.7729:0.0:0.2271	.	536	Q96N22	ZN681_HUMAN	F	536;467	ENSP00000384000:C536F;ENSP00000378783:C467F	ENSP00000378783:C467F	C	-	2	0	ZNF681	23718585	0.662000	0.27439	0.562000	0.28370	0.072000	0.16883	2.684000	0.46951	0.798000	0.33994	0.313000	0.20887	TGT		0.378	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		88	244	1	0	1.27451e-61	1	1.36496e-61	88	244				
RHOA	387	broad.mit.edu	37	3	49395482	49395482	+	IGR	SNP	G	G	C	rs201944086	byFrequency	TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr3:49395482G>C	ENST00000418115.1	-	0	2031				GPX1_ENST00000419349.1_Missense_Mutation_p.P77R|GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419783.1_Missense_Mutation_p.P77R	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A						actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CTGGTTGCACGGGAAGCCGAG	0.726																																						ENST00000419783.1																			0				breast(1)|large_intestine(2)|lung(1)	4						c.(229-231)cCg>cGg		glutathione peroxidase 1	Glutathione(DB00143)						11.0	14.0	13.0					3																	49395482		1848	4061	5909	SO:0001628	intergenic_variant	2876				anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding	g.chr3:49395482G>C	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838		3.37:g.49395482G>C						GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_Missense_Mutation_p.P77R	p.P77R	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	551	-			77					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.230C>G	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	G	36	5.745728	0.96882	.	.	ENSG00000233276	ENST00000419783;ENST00000419349	T;T	0.25085	1.82;1.82	5.88	5.88	0.94601	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.63070	0.2480	M	0.93150	3.385	0.80722	D	1	D;D	0.71674	0.998;0.988	D;P	0.68483	0.958;0.891	T	0.72279	-0.4340	10	0.87932	D	0	.	18.8152	0.92075	0.0:0.0:1.0:0.0	.	77;77	E9PAS1;P07203	.;GPX1_HUMAN	R	77	ENSP00000407375:P77R;ENSP00000391316:P77R	ENSP00000391316:P77R	P	-	2	0	GPX1	49370486	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.875000	0.87205	2.788000	0.95919	0.555000	0.69702	CCG		0.726	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		5	102	0	0	0	1	0	5	102				
ANGPTL2	23452	broad.mit.edu	37	9	129854107	129854107	+	Missense_Mutation	SNP	C	C	T	rs140507856	byFrequency	TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr9:129854107C>T	ENST00000373425.3	-	4	1741	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000394022.3_Intron|ANGPTL2_ENST00000373417.1_Missense_Mutation_p.R73H	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	375	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						AAAGACTTTGCGGCCGGACCA	0.547													C|||	3	0.000599042	0.0	0.0014	5008	,	,		19721	0.0		0.002	False		,,,				2504	0.0					ENST00000373425.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						c.(1123-1125)cGc>cAc		angiopoietin-like 2		C	,,,HIS/ARG,	0,4406		0,0,2203	183.0	185.0	184.0		,,,1124,	5.2	1.0	9	dbSNP_134	184	6,8594	5.0+/-18.6	0,6,4294	yes	intron,intron,intron,missense,intron	RALGPS1,ANGPTL2	NM_001190728.1,NM_001190729.1,NM_001190730.1,NM_012098.2,NM_014636.2	,,,29,	0,6,6497	TT,TC,CC		0.0698,0.0,0.0461	,,,probably-damaging,	,,,375/494,	129854107	6,13000	2203	4300	6503	SO:0001583	missense	23452				multicellular organismal development|signal transduction	extracellular space	receptor binding	g.chr9:129854107C>T	AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"""Fibrinogen C domain containing"""	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.1124G>A	9.37:g.129854107C>T	ENSP00000362524:p.Arg375His					ANGPTL2_ENST00000373417.1_Missense_Mutation_p.R73H|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373436.1_Intron	p.R375H	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN			4	1741	-			375			Fibrinogen C-terminal.		Q5JT58|Q8NCH7	Missense_Mutation	SNP	ENST00000373425.3	37	c.1124G>A	CCDS6868.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	16.66	3.185076	0.57909	0.0	6.98E-4	ENSG00000136859	ENST00000373425;ENST00000373417	D;D	0.81499	-1.5;-1.5	5.2	5.2	0.72013	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.049723	0.85682	D	0.000000	D	0.84120	0.5402	L	0.27944	0.81	0.80722	D	1	D	0.71674	0.998	D	0.69307	0.963	D	0.85909	0.1439	10	0.62326	D	0.03	.	19.1061	0.93296	0.0:1.0:0.0:0.0	.	375	Q9UKU9	ANGL2_HUMAN	H	375;73	ENSP00000362524:R375H;ENSP00000362516:R73H	ENSP00000362516:R73H	R	-	2	0	ANGPTL2	128893928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.996000	0.57009	2.574000	0.86865	0.655000	0.94253	CGC		0.547	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098		9	1388	0	0	0	1	0	9	1388				
DEPDC1B	55789	broad.mit.edu	37	5	59982897	59982897	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr5:59982897C>T	ENST00000265036.5	-	2	273	c.206G>A	c.(205-207)cGc>cAc	p.R69H	DEPDC1B_ENST00000453022.2_Missense_Mutation_p.R69H|DEPDC1B_ENST00000545085.1_Missense_Mutation_p.R42H	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	69	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				CGTTTGTTTGCGGGTCACTTC	0.473																																						ENST00000265036.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17						c.(205-207)cGc>cAc		DEP domain containing 1B							128.0	118.0	121.0					5																	59982897		2203	4300	6503	SO:0001583	missense	55789				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:59982897C>T	AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"""breast cancer cell 3"""					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.206G>A	5.37:g.59982897C>T	ENSP00000265036:p.Arg69His					DEPDC1B_ENST00000545085.1_Missense_Mutation_p.R42H|DEPDC1B_ENST00000453022.2_Missense_Mutation_p.R69H	p.R69H	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN			2	273	-		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)	69			DEP.		A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Missense_Mutation	SNP	ENST00000265036.5	37	c.206G>A	CCDS3977.1	.	.	.	.	.	.	.	.	.	.	C	35	5.543962	0.96488	.	.	ENSG00000035499	ENST00000265036;ENST00000453022;ENST00000545085	T;T;T	0.42131	0.98;0.98;0.98	5.64	5.64	0.86602	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.74642	0.3743	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79999	-0.1566	9	.	.	.	-13.4015	20.0625	0.97681	0.0:1.0:0.0:0.0	.	69;69	B4DUT4;Q8WUY9	.;DEP1B_HUMAN	H	69;69;42	ENSP00000265036:R69H;ENSP00000389101:R69H;ENSP00000438320:R42H	.	R	-	2	0	DEPDC1B	60018654	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.669000	0.83911	2.816000	0.96949	0.561000	0.74099	CGC		0.473	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214207.1	NM_018369		5	630	0	0	0	1	0	5	630				
ZNF91	7644	broad.mit.edu	37	19	23544783	23544783	+	Missense_Mutation	SNP	C	C	T	rs410211		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr19:23544783C>T	ENST00000300619.7	-	4	1203	c.998G>A	c.(997-999)cGt>cAt	p.R333H	ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	333				R -> H (in Ref. 1; AAA59469). {ECO:0000305}.	transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R333H(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAACGGCTAAAAGC	0.393																																						ENST00000300619.7																			1	Substitution - Missense(1)	p.R333H(1)	large_intestine(1)								c.(997-999)cGt>cAt		zinc finger protein 91							72.0	76.0	75.0					19																	23544783		2120	4254	6374	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544783C>T	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.998G>A	19.37:g.23544783C>T	ENSP00000300619:p.Arg333His					ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H|ZNF91_ENST00000599743.1_Intron	p.R333H	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1203	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	333	R -> H (in Ref. 1; AAA59469).				A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.998G>A	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	4.408	0.075438	0.08485	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.17854	2.25;2.25	1.97	-3.94	0.04130	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07279	0.0184	N	0.20845	0.615	0.09310	N	1	P;D	0.61080	0.566;0.989	B;B	0.41988	0.043;0.372	T	0.25257	-1.0137	9	0.14252	T	0.57	.	3.5074	0.07696	0.1773:0.4543:0.0:0.3684	rs410211	301;333	Q05481-2;Q05481	.;ZNF91_HUMAN	H	333;301	ENSP00000300619:R333H;ENSP00000380272:R301H	ENSP00000300619:R333H	R	-	2	0	ZNF91	23336623	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.698000	0.01908	-0.928000	0.03761	0.162000	0.16502	CGT		0.393	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		9	597	0	0	0	1	0	9	597				
HTRA2	27429	broad.mit.edu	37	2	74759839	74759839	+	Silent	SNP	C	C	T			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr2:74759839C>T	ENST00000258080.3	+	7	1839	c.1209C>T	c.(1207-1209)caC>caT	p.H403H	LOXL3_ENST00000409249.1_3'UTR|AUP1_ENST00000377526.3_5'Flank|HTRA2_ENST00000352222.3_Intron|HTRA2_ENST00000467961.1_3'UTR|LOXL3_ENST00000264094.3_3'UTR	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	403	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						CCCCTGCACACCGGTGAGGGA	0.507																																						ENST00000258080.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(1207-1209)caC>caT		HtrA serine peptidase 2							121.0	106.0	111.0					2																	74759839		2203	4300	6503	SO:0001819	synonymous_variant	27429				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	g.chr2:74759839C>T		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"""Serine peptidases / Serine peptidases"", ""Parkinson disease"""	14348	protein-coding gene	gene with protein product		606441	"""protease, serine, 25"""	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.1209C>T	2.37:g.74759839C>T						LOXL3_ENST00000409249.1_3'UTR|HTRA2_ENST00000467961.1_3'UTR|HTRA2_ENST00000352222.3_Intron|LOXL3_ENST00000264094.3_3'UTR	p.H403H	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN			7	1839	+			403			PDZ.		Q9HBZ4|Q9P0Y3|Q9P0Y4	Silent	SNP	ENST00000258080.3	37	c.1209C>T	CCDS1951.1																																																																																				0.507	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247		11	214	0	0	0	1	0	11	214				
FAM129C	199786	broad.mit.edu	37	19	17648272	17648272	+	Missense_Mutation	SNP	T	T	G			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr19:17648272T>G	ENST00000335393.4	+	6	746	c.608T>G	c.(607-609)cTc>cGc	p.L203R	FAM129C_ENST00000332386.5_Missense_Mutation_p.L203R|FAM129C_ENST00000601861.1_Missense_Mutation_p.L172R|FAM129C_ENST00000600871.1_Missense_Mutation_p.L149R|FAM129C_ENST00000352727.3_Missense_Mutation_p.L203R|FAM129C_ENST00000595684.1_Missense_Mutation_p.L203R|FAM129C_ENST00000599124.1_Missense_Mutation_p.L172R|FAM129C_ENST00000300971.2_Missense_Mutation_p.L203R|FAM129C_ENST00000599164.1_Missense_Mutation_p.L172R|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000449408.2_5'UTR	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	203										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CGCCGGCACCTCTGCTTCTCT	0.617																																						ENST00000335393.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						c.(607-609)cTc>cGc		family with sequence similarity 129, member C							73.0	72.0	73.0					19																	17648272		2203	4300	6503	SO:0001583	missense	199786							g.chr19:17648272T>G	AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.608T>G	19.37:g.17648272T>G	ENSP00000335040:p.Leu203Arg					FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000352727.3_Missense_Mutation_p.L203R|FAM129C_ENST00000300971.2_Missense_Mutation_p.L203R|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000332386.5_Missense_Mutation_p.L203R|FAM129C_ENST00000595684.1_Missense_Mutation_p.L203R|FAM129C_ENST00000601861.1_Missense_Mutation_p.L172R|FAM129C_ENST00000599124.1_Missense_Mutation_p.L172R|FAM129C_ENST00000599164.1_Missense_Mutation_p.L172R|FAM129C_ENST00000600871.1_Missense_Mutation_p.L149R	p.L203R	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN			6	746	+			203					B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP	ENST00000335393.4	37	c.608T>G	CCDS12362.1	.	.	.	.	.	.	.	.	.	.	t	15.27	2.784015	0.49891	.	.	ENSG00000167483	ENST00000335393;ENST00000332386;ENST00000352727;ENST00000300971;ENST00000435646	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	4.42	4.42	0.53409	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.153557	0.30483	N	0.009526	T	0.41581	0.1165	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.74674	0.984;0.962	T	0.22730	-1.0208	10	0.29301	T	0.29	-30.7533	10.0681	0.42317	0.0:0.0:0.0:1.0	.	203;203	Q86XR2;Q86XR2-3	NIBL2_HUMAN;.	R	203;203;203;203;149	ENSP00000335040:L203R;ENSP00000333447:L203R;ENSP00000341067:L203R;ENSP00000300971:L203R	ENSP00000300971:L203R	L	+	2	0	FAM129C	17509272	0.964000	0.33143	1.000000	0.80357	0.740000	0.42216	2.446000	0.44908	1.659000	0.50751	0.392000	0.25879	CTC		0.617	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544		222	399	0	0	0	1	0	222	399				
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A	rs373338988		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S155S(4)	urinary_tract(1)|large_intestine(1)|lung(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(463-465)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							10.0	15.0	14.0					9																	20414379		1871	3851	5722	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414379G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.465C>T	9.37:g.20414379G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000475957.1_5'UTR	p.S155S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	751	-			155			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.465C>T	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		6	171	0	0	0	1	0	6	171				
SMCHD1	23347	broad.mit.edu	37	18	2666233	2666233	+	Splice_Site	SNP	T	T	C			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr18:2666233T>C	ENST00000320876.6	+	2	600		c.e2+2		SMCHD1_ENST00000261598.8_Splice_Site	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1						chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						ATAATTTTGGTAGGTAAACAG	0.264																																						ENST00000320876.6																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.e2+2		structural maintenance of chromosomes flexible hinge domain containing 1							35.0	33.0	34.0					18																	2666233		1792	4046	5838	SO:0001630	splice_region_variant	23347				chromosome organization		ATP binding	g.chr18:2666233T>C	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.262+2T>C	18.37:g.2666233T>C						SMCHD1_ENST00000261598.8_Splice_Site		NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN			2	600	+								O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Splice_Site	SNP	ENST00000320876.6	37		CCDS45822.1	.	.	.	.	.	.	.	.	.	.	T	17.22	3.333620	0.60853	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8252	0.78698	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMCHD1	2656233	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.591000	0.74090	2.197000	0.70478	0.482000	0.46254	.		0.264	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		Intron	35	66	0	0	0	1	0	35	66				
PXDN	7837	broad.mit.edu	37	2	1687905	1687905	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr2:1687905C>G	ENST00000252804.4	-	5	485	c.435G>C	c.(433-435)caG>caC	p.Q145H		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	145					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AAGTTTCTATCTGATTAAAGT	0.393																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(433-435)caG>caC		peroxidasin homolog (Drosophila)							44.0	45.0	45.0					2																	1687905		1844	4090	5934	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1687905C>G	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.435G>C	2.37:g.1687905C>G	ENSP00000252804:p.Gln145His						p.Q145H	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	5	485	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	145					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.435G>C	CCDS46221.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	13.18|13.18|13.18	2.158955|2.158955|2.158955	0.38119|0.38119|0.38119	.|.|.	.|.|.	ENSG00000130508|ENSG00000130508|ENSG00000130508	ENST00000447941|ENST00000252804;ENST00000425171|ENST00000433670	.|T;T|.	.|0.57436|.	.|0.4;1.01|.	5.72|5.72|5.72	3.92|3.92|3.92	0.45320|0.45320|0.45320	.|.|.	.|0.119002|.	.|0.64402|.	.|D|.	.|0.000017|.	T|T|T	0.43897|0.43897|0.43897	0.1268|0.1268|0.1268	L|L|L	0.31294|0.31294|0.31294	0.92|0.92|0.92	0.38014|0.38014|0.38014	D|D|D	0.934648|0.934648|0.934648	.|P;P|.	.|0.48640|.	.|0.913;0.842|.	.|P;P|.	.|0.53988|.	.|0.739;0.682|.	T|T|T	0.40794|0.40794|0.40794	-0.9544|-0.9544|-0.9544	5|10|5	.|0.66056|.	.|D|.	.|0.02|.	-47.1638|-47.1638|-47.1638	7.851|7.851|7.851	0.29455|0.29455|0.29455	0.0:0.6967:0.0:0.3033|0.0:0.6967:0.0:0.3033|0.0:0.6967:0.0:0.3033	.|.|.	.|145;145|.	.|Q92626-2;Q92626|.	.|.;PXDN_HUMAN|.	H|H|T	69|145;121|141	.|ENSP00000252804:Q145H;ENSP00000398363:Q121H|.	.|ENSP00000252804:Q145H|.	D|Q|R	-|-|-	1|3|2	0|2|0	PXDN|PXDN|PXDN	1666912|1666912|1666912	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.930000|0.930000|0.930000	0.56654|0.56654|0.56654	0.730000|0.730000|0.730000	0.26043|0.26043|0.26043	1.416000|1.416000|1.416000	0.47057|0.47057|0.47057	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GAT|CAG|AGA		0.393	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		11	14	0	0	0	1	0	11	14				
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G	rs200656321		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		CGTTGGTGTTTTTGTAGACCA	0.617																																						ENST00000330048.5																			0																																																			0							g.chr16:32890622T>G	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890622T>G								NR_003083.2						0	3176	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.617	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			4	86	0	0	0	1	0	4	86				
RAET1G	353091	broad.mit.edu	37	6	150240238	150240238	+	Missense_Mutation	SNP	G	G	A	rs200821816		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr6:150240238G>A	ENST00000367360.2	-	3	639	c.572C>T	c.(571-573)aCa>aTa	p.T191I	RAET1E-AS1_ENST00000605899.1_RNA|RP11-244K5.8_ENST00000606915.1_RNA|RAET1G_ENST00000479265.1_Missense_Mutation_p.T191I|RAET1E-AS1_ENST00000446954.2_RNA	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G											NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		AAGCCATCCTGTGCAGTCTCC	0.483																																						ENST00000367360.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(571-573)aCa>aTa		retinoic acid early transcript 1G							229.0	213.0	219.0					6																	150240238		2203	4300	6503	SO:0001583	missense	353091				antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150240238G>A	AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"""retinoic acid early transcript 1G pseudogene"""			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.572C>T	6.37:g.150240238G>A	ENSP00000356329:p.Thr191Ile					RP11-244K5.1_ENST00000605899.1_RNA|RP11-244K5.1_ENST00000446954.1_RNA|RAET1G_ENST00000479265.1_Missense_Mutation_p.T191I|RP11-244K5.8_ENST00000606915.1_RNA	p.T191I	NM_001001788.2	NP_001001788.2	Q6H3X3	RET1G_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)	3	639	-		Ovarian(120;0.0907)	191			MHC class I alpha-2 like.			Missense_Mutation	SNP	ENST00000367360.2	37	c.572C>T	CCDS43514.1	.	.	.	.	.	.	.	.	.	.	G	3.947	-0.013017	0.07727	.	.	ENSG00000203722	ENST00000367360;ENST00000479265	T;T	0.61158	0.13;0.13	2.4	-1.72	0.08107	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.09598	0.0236	N	0.05078	-0.115	0.09310	N	1	B	0.22211	0.066	B	0.28232	0.087	T	0.32322	-0.9911	9	0.09338	T	0.73	.	3.3876	0.07277	0.0:0.3347:0.2213:0.444	.	191	Q6H3X3	RET1G_HUMAN	I	191	ENSP00000356329:T191I;ENSP00000417503:T191I	ENSP00000356329:T191I	T	-	2	0	RAET1G	150281931	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.322000	0.02695	-0.497000	0.06641	-0.432000	0.05891	ACA		0.483	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042668.2			8	483	0	0	0	1	0	8	483				
BRD8	10902	broad.mit.edu	37	5	137476420	137476420	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr5:137476420G>A	ENST00000254900.5	-	26	3960	c.3589C>T	c.(3589-3591)Cgg>Tgg	p.R1197W	NME5_ENST00000265191.2_5'Flank	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1197					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACTTCTTGCCGCATCTCCACA	0.453																																						ENST00000254900.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35						c.(3589-3591)Cgg>Tgg		bromodomain containing 8							217.0	206.0	209.0					5																	137476420		2203	4300	6503	SO:0001583	missense	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137476420G>A	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.3589C>T	5.37:g.137476420G>A	ENSP00000254900:p.Arg1197Trp						p.R1197W	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		26	3960	-			1197					O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	c.3589C>T	CCDS4198.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175310	0.78564	.	.	ENSG00000112983	ENST00000254900;ENST00000427976	T;T	0.19669	2.13;2.13	5.96	5.96	0.96718	Bromodomain (3);	0.142476	0.32503	N	0.006018	T	0.14227	0.0344	N	0.08118	0	0.80722	D	1	B	0.24426	0.103	B	0.08055	0.003	T	0.09487	-1.0672	10	0.87932	D	0	-2.0297	19.4101	0.94667	0.0:0.0:1.0:0.0	.	1197	Q9H0E9	BRD8_HUMAN	W	1197;303	ENSP00000254900:R1197W;ENSP00000392646:R303W	ENSP00000254900:R1197W	R	-	1	2	BRD8	137504319	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.026000	0.88783	2.832000	0.97577	0.655000	0.94253	CGG		0.453	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		6	886	0	0	0	1	0	6	886				
MARK2	2011	broad.mit.edu	37	11	63667482	63667482	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr11:63667482G>A	ENST00000509502.2	+	8	1032	c.569G>A	c.(568-570)gGc>gAc	p.G190D	MARK2_ENST00000315032.8_Missense_Mutation_p.G223D|MARK2_ENST00000377810.3_Missense_Mutation_p.G190D|MARK2_ENST00000350490.7_Missense_Mutation_p.G223D|MARK2_ENST00000513765.2_Missense_Mutation_p.G190D|MARK2_ENST00000402010.2_Missense_Mutation_p.G223D|MARK2_ENST00000377809.4_Missense_Mutation_p.G223D|MARK2_ENST00000413835.2_Missense_Mutation_p.G223D|MARK2_ENST00000508192.1_Missense_Mutation_p.G223D|MARK2_ENST00000361128.5_Missense_Mutation_p.G223D|MARK2_ENST00000502399.3_Missense_Mutation_p.G223D|MARK2_ENST00000408948.3_Missense_Mutation_p.G190D|MARK2_ENST00000425897.2_Missense_Mutation_p.G190D	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CTCTTCCAGGGCAAAAAATAT	0.502																																						ENST00000402010.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(667-669)gGc>gAc		MAP/microtubule affinity-regulating kinase 2							129.0	138.0	135.0					11																	63667482		2201	4297	6498	SO:0001583	missense	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63667482G>A	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.569G>A	11.37:g.63667482G>A	ENSP00000423974:p.Gly190Asp					MARK2_ENST00000377809.4_Missense_Mutation_p.G223D|MARK2_ENST00000361128.5_Missense_Mutation_p.G223D|MARK2_ENST00000377810.3_Missense_Mutation_p.G190D|MARK2_ENST00000425897.2_Missense_Mutation_p.G190D|MARK2_ENST00000350490.7_Missense_Mutation_p.G223D|MARK2_ENST00000513765.2_Missense_Mutation_p.G190D|MARK2_ENST00000509502.2_Missense_Mutation_p.G190D|MARK2_ENST00000408948.3_Missense_Mutation_p.G190D|MARK2_ENST00000508192.1_Missense_Mutation_p.G223D|MARK2_ENST00000315032.8_Missense_Mutation_p.G223D|MARK2_ENST00000502399.3_Missense_Mutation_p.G223D|MARK2_ENST00000413835.2_Missense_Mutation_p.G223D	p.G223D	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN			8	1247	+			223			Protein kinase.			Missense_Mutation	SNP	ENST00000509502.2	37	c.668G>A	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	g	33	5.251318	0.95305	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.057355	0.64402	D	0.000001	T	0.54175	0.1842	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.997;1.0;0.99;1.0	D;D;D;D;P;D	0.91635	0.998;0.997;0.918;0.999;0.895;0.999	T	0.53180	-0.8475	10	0.87932	D	0	.	18.2974	0.90151	0.0:0.0:1.0:0.0	.	190;190;223;223;223;223	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	D	223;223;223;223;190;223;223;223;223;190;190;190;190	ENSP00000385751:G223D;ENSP00000326632:G223D;ENSP00000367040:G223D;ENSP00000389184:G223D;ENSP00000367041:G190D;ENSP00000425765:G223D;ENSP00000355091:G223D;ENSP00000294247:G223D;ENSP00000423974:G190D;ENSP00000421075:G190D;ENSP00000386128:G190D;ENSP00000415494:G190D	ENSP00000326632:G223D	G	+	2	0	MARK2	63424058	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.654000	0.98509	2.853000	0.98044	0.645000	0.84053	GGC		0.502	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		6	665	0	0	0	1	0	6	665				
STAB2	55576	broad.mit.edu	37	12	103988220	103988220	+	Missense_Mutation	SNP	G	G	A	rs146698695		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr12:103988220G>A	ENST00000388887.2	+	3	467	c.263G>A	c.(262-264)cGc>cAc	p.R88H	U8_ENST00000391292.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCCGGATGCCGCCATATTTGT	0.502																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(262-264)cGc>cAc		stabilin 2		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	191.0	163.0	173.0		263	5.8	1.0	12	dbSNP_134	173	0,8600		0,0,4300	no	missense	STAB2	NM_017564.9	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	88/2552	103988220	1,13005	2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:103988220G>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.263G>A	12.37:g.103988220G>A	ENSP00000373539:p.Arg88His						p.R88H	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			3	467	+			88						Missense_Mutation	SNP	ENST00000388887.2	37	c.263G>A	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783576	0.90282	2.27E-4	0.0	ENSG00000136011	ENST00000388887	D	0.84442	-1.85	5.78	5.78	0.91487	.	0.144732	0.49305	D	0.000152	D	0.87470	0.6185	N	0.25332	0.735	0.37856	D	0.929544	D	0.89917	1.0	D	0.87578	0.998	D	0.86037	0.1517	10	0.27785	T	0.31	.	17.2896	0.87152	0.0:0.0:1.0:0.0	.	88	Q8WWQ8	STAB2_HUMAN	H	88	ENSP00000373539:R88H	ENSP00000373539:R88H	R	+	2	0	STAB2	102512350	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.231000	0.51294	2.894000	0.99253	0.591000	0.81541	CGC		0.502	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			8	762	0	0	0	1	0	8	762				
SELP	6403	broad.mit.edu	37	1	169562853	169562853	+	Silent	SNP	G	G	A			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr1:169562853G>A	ENST00000263686.6	-	14	2434	c.2397C>T	c.(2395-2397)ttC>ttT	p.F799F	SELP_ENST00000458599.2_Silent_p.F615F|SELP_ENST00000367792.2_Silent_p.F615F|SELP_ENST00000367791.2_Silent_p.F613F|SELP_ENST00000367793.2_Silent_p.F737F|SELP_ENST00000367788.2_Silent_p.F737F|SELP_ENST00000367786.2_Silent_p.F737F|SELP_ENST00000367794.2_Silent_p.F737F	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	799					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	CTTTTTGTCTGAAACGCTTTC	0.423																																						ENST00000263686.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2395-2397)ttC>ttT		selectin P (granule membrane protein 140kDa, antigen CD62)	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						72.0	71.0	71.0					1																	169562853		2203	4300	6503	SO:0001819	synonymous_variant	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169562853G>A	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.2397C>T	1.37:g.169562853G>A						SELP_ENST00000367794.2_Silent_p.F737F|SELP_ENST00000367793.2_Silent_p.F737F|SELP_ENST00000458599.2_Silent_p.F615F|SELP_ENST00000367792.2_Silent_p.F615F|SELP_ENST00000367791.2_Silent_p.F613F|SELP_ENST00000367786.2_Silent_p.F737F|SELP_ENST00000367788.2_Silent_p.F737F	p.F799F	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN			14	2434	-	all_hematologic(923;0.208)		799					Q5R344|Q8IVD1	Silent	SNP	ENST00000263686.6	37	c.2397C>T	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	G	8.970	0.972792	0.18736	.	.	ENSG00000174175	ENST00000446728	.	.	.	5.62	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.0013	12.4137	0.55481	0.0:0.1689:0.8311:0.0	.	.	.	.	X	615	.	.	Q	-	1	0	SELP	167829477	0.949000	0.32298	0.728000	0.30774	0.959000	0.62525	3.082000	0.50128	1.330000	0.45394	0.650000	0.86243	CAG		0.423	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		14	158	0	0	0	1	0	14	158				
PRMT8	56341	broad.mit.edu	37	12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(91-93)Tcc>Ccc		protein arginine methyltransferase 8							41.0	51.0	47.0					12																	3649787		2199	4299	6498	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649787T>C	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.91T>C	12.37:g.3649787T>C	ENSP00000372067:p.Ser31Pro					PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	p.S31P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	481	+			31					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.91T>C	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834665	0.50951	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.30182	1.65;1.54	5.52	-6.61	0.01818	.	0.606566	0.17318	N	0.178612	T	0.16171	0.0389	L	0.43152	1.355	0.28544	N	0.911948	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09997	-1.0649	10	0.29301	T	0.29	.	3.8844	0.09091	0.1085:0.1587:0.4822:0.2506	.	22;31	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	P	22;31	ENSP00000414507:S22P;ENSP00000372067:S31P	ENSP00000372067:S31P	S	+	1	0	PRMT8	3520048	0.000000	0.05858	0.001000	0.08648	0.946000	0.59487	-0.825000	0.04433	-0.996000	0.03455	0.460000	0.39030	TCC		0.652	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		28	271	0	0	0	1	0	28	271				
PAK2	5062	broad.mit.edu	37	3	196529917	196529917	+	Silent	SNP	A	A	G	rs183020057	byFrequency	TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr3:196529917A>G	ENST00000327134.3	+	4	640	c.318A>G	c.(316-318)ctA>ctG	p.L106L		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	106	Autoregulatory region. {ECO:0000250}.|GTPase-binding. {ECO:0000250}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CTCGATTACTACAGACCTCCA	0.378													A|||	5	0.000998403	0.0008	0.0	5008	,	,		19631	0.001		0.001	False		,,,				2504	0.002					ENST00000327134.3																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12						c.(316-318)ctA>ctG		p21 protein (Cdc42/Rac)-activated kinase 2							93.0	81.0	85.0					3																	196529917		2203	4300	6503	SO:0001819	synonymous_variant	5062				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity	g.chr3:196529917A>G	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"""S6/H4 kinase"""	605022	"""p21 (CDKN1A)-activated kinase 2"""			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.318A>G	3.37:g.196529917A>G							p.L106L	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)	4	640	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		106			Autoregulatory region (By similarity).|GTPase-binding (By similarity).		Q13154|Q6ISC3	Silent	SNP	ENST00000327134.3	37	c.318A>G	CCDS3321.1																																																																																				0.378	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		5	187	0	0	0	1	0	5	187				
BAGE2	85319	broad.mit.edu	37	21	11058168	11058168	+	RNA	SNP	A	A	T			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr21:11058168A>T	ENST00000470054.1	-	0	479							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACATCTTTCAGGAGCTTGGT	0.388																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							100.0	79.0	86.0					21																	11058168		692	1591	2283			85319							g.chr21:11058168A>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058168A>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	479	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.388	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		7	439	0	0	0	1	0	7	439				
NBPF10	100132406	broad.mit.edu	37	1	145296403	145296403	+	Silent	SNP	C	C	T	rs4996269	byFrequency	TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr1:145296403C>T	ENST00000342960.5	+	3	360	c.325C>T	c.(325-327)Cta>Tta	p.L109L	NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	109						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			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)		GCTGACCCAGCTAAGGGAGAA	0.517																																						ENST00000342960.5																			0				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.(325-327)Cta>Tta		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145296403C>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.325C>T	1.37:g.145296403C>T						NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	p.L109L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	3	360	+	all_hematologic(923;0.032)		109					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.325C>T	CCDS53355.1																																																																																				0.517	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		10	860	0	0	0	1	0	10	860				
SLC6A8	6535	broad.mit.edu	37	X	152959611	152959611	+	Silent	SNP	C	C	T	rs368950125		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chrX:152959611C>T	ENST00000253122.5	+	9	1757	c.1281C>T	c.(1279-1281)acC>acT	p.T427T	SLC6A8_ENST00000485324.1_3'UTR|SLC6A8_ENST00000430077.2_Silent_p.T312T	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	427					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	GCTTCATCACCGGCCTCCTCG	0.632																																						ENST00000253122.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(1279-1281)acC>acT		solute carrier family 6 (neurotransmitter transporter), member 8	Creatine(DB00148)	C	,,	1,3834		0,1,1631,571	51.0	48.0	49.0		1251,936,1281	-10.4	0.0	X		49	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC6A8	NM_001142805.1,NM_001142806.1,NM_005629.3	,,	0,2,4058,2443	TT,TC,CC,C		0.0149,0.0261,0.0189	,,	417/626,312/521,427/636	152959611	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	6535				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chrX:152959611C>T		CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"""Solute carriers"""	11055	protein-coding gene	gene with protein product	"""creatine transporter"""	300036	"""solute carrier family 6 (neurotransmitter transporter, creatine), member 8"""			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.1281C>T	X.37:g.152959611C>T						SLC6A8_ENST00000430077.2_Silent_p.T312T|SLC6A8_ENST00000485324.1_3'UTR	p.T427T	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN			9	1757	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		427					B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Silent	SNP	ENST00000253122.5	37	c.1281C>T	CCDS14726.1	.	.	.	.	.	.	.	.	.	.	c	6.807	0.518017	0.13005	2.61E-4	1.49E-4	ENSG00000130821	ENST00000442457	.	.	.	5.44	-10.4	0.00318	.	.	.	.	.	T	0.40862	0.1134	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47005	-0.9150	4	.	.	.	.	4.3509	0.11155	0.1764:0.1786:0.0812:0.5638	.	.	.	.	L	112	.	.	P	+	2	0	SLC6A8	152612805	0.000000	0.05858	0.022000	0.16811	0.978000	0.69477	-4.625000	0.00207	-2.607000	0.00447	-0.395000	0.06472	CCG		0.632	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1			51	630	0	0	0	1	0	51	630				
EBPL	84650	broad.mit.edu	37	13	50235160	50235160	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr13:50235160G>C	ENST00000242827.6	-	4	615	c.565C>G	c.(565-567)Cta>Gta	p.L189V	EBPL_ENST00000378270.5_3'UTR|EBPL_ENST00000378284.2_3'UTR|EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000495963.2_5'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	189					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)	p.L189V(9)		endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		TTGAGTTCTAGCCATGACTGC	0.418																																					NSCLC(39;857 1083 36109 42364 51411)	ENST00000242827.6																			9	Substitution - Missense(9)	p.L189V(9)	endometrium(6)|kidney(3)	endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(565-567)Cta>Gta		emopamil binding protein-like							67.0	67.0	67.0					13																	50235160		2203	4300	6503	SO:0001583	missense	84650				sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity	g.chr13:50235160G>C	AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179			18061	protein-coding gene	gene with protein product							Standard	NM_032565		Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000242827.6:c.565C>G	13.37:g.50235160G>C	ENSP00000242827:p.Leu189Val					EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378284.2_3'UTR|EBPL_ENST00000378270.5_3'UTR	p.L189V	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN		GBM - Glioblastoma multiforme(99;2.06e-09)	4	615	-		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	189					A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Missense_Mutation	SNP	ENST00000242827.6	37	c.565C>G	CCDS9420.1	.	.	.	.	.	.	.	.	.	.	C	3.076	-0.189988	0.06299	.	.	ENSG00000123179	ENST00000242827	D	0.97850	-4.57	5.61	2.84	0.33178	.	0.689671	0.14945	N	0.289287	D	0.88179	0.6367	N	0.00621	-1.32	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.79482	-0.1785	10	0.25751	T	0.34	-0.2032	8.3049	0.32036	0.0:0.4998:0.3595:0.1406	.	189	Q9BY08	EBPL_HUMAN	V	189	ENSP00000242827:L189V	ENSP00000242827:L189V	L	-	1	2	EBPL	49133161	0.000000	0.05858	0.303000	0.25071	0.899000	0.52679	-1.071000	0.03437	0.397000	0.25310	-0.127000	0.14921	CTA		0.418	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044932.2	NM_032565		4	174	0	0	0	1	0	4	174				
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A	rs558808115		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr4:146059006G>A	ENST00000447906.2	-	21	3108	c.2921C>T	c.(2920-2922)aCt>aTt	p.T974I	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Missense_Mutation_p.T909I			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	974					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)					AACAGGCACAGTTTCTCTCTC	0.463																																						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.(2725-2727)aCt>aTt		OTU domain containing 4							128.0	133.0	131.0					4																	146059006		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146059006G>A		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.2921C>T	4.37:g.146059006G>A	ENSP00000395487:p.Thr974Ile					OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I|OTUD4_ENST00000455611.2_Intron	p.T909I	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2863	-	all_hematologic(180;0.151)		973					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.2726C>T		.	.	.	.	.	.	.	.	.	.	G	13.28	2.191504	0.38707	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.34275	1.37;1.37	6.17	5.33	0.75918	.	1.059000	0.07258	N	0.867023	T	0.32793	0.0841	N	0.24115	0.695	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.14023	0.01;0.004	T	0.02275	-1.1184	10	0.59425	D	0.04	-0.3286	15.5098	0.75772	0.0658:0.0:0.9342:0.0	.	974;973	G3V0I6;Q01804	.;OTUD4_HUMAN	I	909;974	ENSP00000409279:T909I;ENSP00000395487:T974I	ENSP00000395487:T974I	T	-	2	0	OTUD4	146278456	0.027000	0.19231	0.108000	0.21378	0.880000	0.50808	2.210000	0.42816	1.621000	0.50320	0.655000	0.94253	ACT		0.463	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		7	764	0	0	0	1	0	7	764				
STK11IP	114790	broad.mit.edu	37	2	220480840	220480840	+	Silent	SNP	C	C	T			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr2:220480840C>T	ENST00000456909.1	+	25	3282	c.3192C>T	c.(3190-3192)atC>atT	p.I1064I	STK11IP_ENST00000295641.10_Silent_p.I1075I			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	1075					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGCCTGGATCCGGGAACCAT	0.627																																						ENST00000456909.1																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(3190-3192)atC>atT		serine/threonine kinase 11 interacting protein							49.0	56.0	54.0					2																	220480840		2140	4260	6400	SO:0001819	synonymous_variant	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220480840C>T	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.3192C>T	2.37:g.220480840C>T						STK11IP_ENST00000295641.10_Silent_p.I1075I	p.I1064I			Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	25	3282	+		Renal(207;0.0183)	1075					Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Silent	SNP	ENST00000456909.1	37	c.3192C>T																																																																																					0.627	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		4	136	0	0	0	1	0	4	136				
CARM1	10498	broad.mit.edu	37	19	11022906	11022906	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr19:11022906C>T	ENST00000327064.4	+	5	795	c.605C>T	c.(604-606)gCc>gTc	p.A202V	CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	202	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.A202V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TCGTTTTTTGCCGCCCAAGCT	0.622																																						ENST00000327064.4																			2	Substitution - Missense(2)	p.A202V(2)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(604-606)gCc>gTc		coactivator-associated arginine methyltransferase 1							319.0	260.0	280.0					19																	11022906		2203	4300	6503	SO:0001583	missense	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11022906C>T	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.605C>T	19.37:g.11022906C>T	ENSP00000325690:p.Ala202Val					CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN			5	795	+			202					A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	c.605C>T	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	C	31	5.061915	0.93846	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.28666	1.6;1.6	5.67	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	H	0.96142	3.775	0.80722	D	1	D	0.57571	0.98	P	0.53809	0.735	T	0.76482	-0.2943	10	0.87932	D	0	-2.6238	14.9481	0.71047	0.1444:0.8556:0.0:0.0	.	202	Q86X55	CARM1_HUMAN	V	202	ENSP00000325690:A202V;ENSP00000340934:A202V	ENSP00000325690:A202V	A	+	2	0	CARM1	10883906	1.000000	0.71417	0.005000	0.12908	0.991000	0.79684	7.335000	0.79234	1.386000	0.46466	0.655000	0.94253	GCC		0.622	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		8	1377	0	0	0	1	0	8	1377				
TTN	7273	broad.mit.edu	37	2	179414391	179414391	+	Silent	SNP	G	G	A	rs545632095		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr2:179414391G>A	ENST00000591111.1	-	288	87359	c.87135C>T	c.(87133-87135)aaC>aaT	p.N29045N	TTN_ENST00000359218.5_Silent_p.N21746N|TTN-AS1_ENST00000590932.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000342175.6_Silent_p.N21813N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.N21621N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.N28118N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Silent_p.N30686N			Q8WZ42	TITIN_HUMAN	titin	29045	Fibronectin type-III 111. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTCATTGCCGTTTATTAGTT	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		20738	0.001		0.0	False		,,,				2504	0.0					ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(92056-92058)aaC>aaT		titin							123.0	117.0	119.0					2																	179414391		1891	4110	6001	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179414391G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.87135C>T	2.37:g.179414391G>A						TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Silent_p.N21621N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Silent_p.N29045N|TTN_ENST00000359218.5_Silent_p.N21746N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.N21813N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.N28118N	p.N30686N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		338	92282	-			29045			Ig-like 138.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.92058C>T																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	348	0	0	0	1	0	6	348				
DNAH9	1770	broad.mit.edu	37	17	11543659	11543659	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr17:11543659G>A	ENST00000262442.4	+	10	1927	c.1859G>A	c.(1858-1860)cGc>cAc	p.R620H	DNAH9_ENST00000454412.2_Missense_Mutation_p.R620H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	620	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGAGGCAGCGCATCCAGGGT	0.582																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(1858-1860)cGc>cAc		dynein, axonemal, heavy chain 9							131.0	119.0	124.0					17																	11543659		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11543659G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1859G>A	17.37:g.11543659G>A	ENSP00000262442:p.Arg620His					DNAH9_ENST00000454412.2_Missense_Mutation_p.R620H	p.R620H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	10	1927	+		Breast(5;0.0122)|all_epithelial(5;0.131)	620			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.1859G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846878	0.91277	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.64803	-0.12;-0.12	5.4	5.4	0.78164	Dynein heavy chain, domain-1 (1);	0.075243	0.56097	D	0.000039	D	0.83096	0.5180	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86623	0.1880	10	0.87932	D	0	.	16.9335	0.86197	0.0:0.0:1.0:0.0	.	620	Q9NYC9	DYH9_HUMAN	H	620	ENSP00000262442:R620H;ENSP00000414874:R620H	ENSP00000262442:R620H	R	+	2	0	DNAH9	11484384	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.131000	0.77243	2.534000	0.85438	0.650000	0.86243	CGC		0.582	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		7	737	0	0	0	1	0	7	737				
WDR33	55339	broad.mit.edu	37	2	128528422	128528422	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr2:128528422C>T	ENST00000322313.4	-	2	292	c.134G>A	c.(133-135)gGa>gAa	p.G45E	WDR33_ENST00000393006.1_Missense_Mutation_p.G45E|WDR33_ENST00000409658.3_Missense_Mutation_p.G45E	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	45					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CATTCGTTTTCCATCAAAAGT	0.418																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(133-135)gGa>gAa		WD repeat domain 33							131.0	120.0	124.0					2																	128528422		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128528422C>T		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.134G>A	2.37:g.128528422C>T	ENSP00000325377:p.Gly45Glu					WDR33_ENST00000409658.3_Missense_Mutation_p.G45E|WDR33_ENST00000393006.1_Missense_Mutation_p.G45E	p.G45E	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	2	292	-	Colorectal(110;0.1)		45					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.134G>A	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244280	0.79912	.	.	ENSG00000136709	ENST00000322313;ENST00000393006;ENST00000409658;ENST00000408998	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.73426	0.3585	M	0.84219	2.685	0.80722	D	1	D;D;D	0.89917	0.996;0.988;1.0	P;D;D	0.87578	0.903;0.932;0.998	T	0.76677	-0.2871	10	0.87932	D	0	-10.5639	19.7303	0.96180	0.0:1.0:0.0:0.0	.	45;45;45	Q9C0J8-2;Q6NUQ0;Q9C0J8	.;.;WDR33_HUMAN	E	45	ENSP00000325377:G45E;ENSP00000376730:G45E;ENSP00000387186:G45E;ENSP00000386861:G45E	ENSP00000325377:G45E	G	-	2	0	WDR33	128244892	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.704000	0.84595	2.671000	0.90904	0.591000	0.81541	GGA		0.418	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		83	151	0	0	0	1	0	83	151				
ARL4C	10123	broad.mit.edu	37	2	235404735	235404735	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr2:235404735C>G	ENST00000390645.2	-	1	962	c.496G>C	c.(496-498)Gag>Cag	p.E166Q	ARL4C_ENST00000339728.3_Missense_Mutation_p.E166Q	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	166					endocytic recycling (GO:0032456)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		GTGAGGCCCTCGCCGATGATG	0.617																																					Esophageal Squamous(157;1837 2534 13028 22831)	ENST00000390645.2																			0				endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4						c.(496-498)Gag>Cag		ADP-ribosylation factor-like 4C							46.0	50.0	48.0					2																	235404735		2005	4182	6187	SO:0001583	missense	10123				endocytic recycling|small GTPase mediated signal transduction	cytoplasm|filopodium|nucleus|plasma membrane	alpha-tubulin binding|GTP binding|GTPase activity	g.chr2:235404735C>G	AB016811	CCDS2512.1, CCDS63169.1	2q37.2	2014-05-09	2005-11-03	2005-11-03	ENSG00000188042	ENSG00000188042		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	698	protein-coding gene	gene with protein product		604787	"""ADP-ribosylation factor-like 7"""	ARL7			Standard	NM_005737		Approved	LAK	uc002vvn.3	P56559	OTTHUMG00000133291	ENST00000390645.2:c.496G>C	2.37:g.235404735C>G	ENSP00000375057:p.Glu166Gln					ARL4C_ENST00000339728.3_Missense_Mutation_p.E166Q	p.E166Q	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)	1	962	-		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)	166					Q4A519|Q53R10|Q9BVN1|Q9UQ34	Missense_Mutation	SNP	ENST00000390645.2	37	c.496G>C	CCDS2512.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338871	0.81911	.	.	ENSG00000188042	ENST00000390645;ENST00000339728	T;T	0.65178	-0.14;-0.14	4.26	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.72447	0.3461	L	0.49126	1.545	0.58432	D	0.999996	D;D	0.64830	0.994;0.987	D;P	0.64687	0.928;0.87	T	0.75494	-0.3298	10	0.59425	D	0.04	-19.1983	15.5968	0.76590	0.0:1.0:0.0:0.0	.	166;166	P56559;Q4A519	ARL4C_HUMAN;.	Q	166	ENSP00000375057:E166Q;ENSP00000339754:E166Q	ENSP00000339754:E166Q	E	-	1	0	ARL4C	235069474	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.811000	0.69187	2.096000	0.63516	0.557000	0.71058	GAG		0.617	ARL4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257073.1			95	106	0	0	0	1	0	95	106				
TGFBI	7045	broad.mit.edu	37	5	135390519	135390519	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr5:135390519G>A	ENST00000442011.2	+	10	1540	c.1379G>A	c.(1378-1380)gGc>gAc	p.G460D	TGFBI_ENST00000305126.8_Missense_Mutation_p.G460D	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	460	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)	p.G460D(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTCTGGGCGGCAAAAAACTG	0.423																																						ENST00000442011.2																			1	Substitution - Missense(1)	p.G460D(1)	lung(1)	breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1378-1380)gGc>gAc		transforming growth factor, beta-induced, 68kDa							179.0	180.0	179.0					5																	135390519		1837	4078	5915	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135390519G>A	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1379G>A	5.37:g.135390519G>A	ENSP00000416330:p.Gly460Asp					TGFBI_ENST00000305126.8_Missense_Mutation_p.G460D	p.G460D	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		10	1540	+			460			FAS1 3.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.1379G>A	CCDS47266.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734757	0.89482	.	.	ENSG00000120708	ENST00000442011;ENST00000398813;ENST00000305126	T;T	0.77098	-1.07;-1.07	5.83	5.83	0.93111	FAS1 domain (5);	0.045109	0.85682	D	0.000000	T	0.80757	0.4684	M	0.65975	2.015	0.80722	D	1	P;P	0.48230	0.704;0.907	P;P	0.48654	0.463;0.585	T	0.82489	-0.0432	10	0.66056	D	0.02	7.7385	13.748	0.62887	0.0787:0.0:0.9213:0.0	.	193;460	B9ZVW9;Q15582	.;BGH3_HUMAN	D	460;193;460	ENSP00000416330:G460D;ENSP00000306306:G460D	ENSP00000306306:G460D	G	+	2	0	TGFBI	135418418	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.936000	0.87665	2.769000	0.95229	0.655000	0.94253	GGC		0.423	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			9	1048	0	0	0	1	0	9	1048				
TBP	6908	broad.mit.edu	37	6	170871076	170871076	+	Silent	SNP	G	G	A	rs564069390	byFrequency	TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr6:170871076G>A	ENST00000392092.2	+	3	531	c.252G>A	c.(250-252)caG>caA	p.Q84Q	TBP_ENST00000230354.6_Silent_p.Q84Q|TBP_ENST00000540980.1_Silent_p.Q64Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	84	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q84Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.602													G|||	18	0.00359425	0.0015	0.0072	5008	,	,		13546	0.003		0.003	False		,,,				2504	0.0051					ENST00000392092.2																			2	Substitution - coding silent(2)	p.Q84Q(2)	lung(1)|endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(250-252)caG>caA		TATA box binding protein							12.0	18.0	16.0					6																	170871076		1932	3828	5760	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871076G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.252G>A	6.37:g.170871076G>A						TBP_ENST00000540980.1_Silent_p.Q64Q|TBP_ENST00000230354.6_Silent_p.Q84Q	p.Q84Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	531	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	84			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.252G>A	CCDS5315.1																																																																																				0.602	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		7	89	0	0	0	1	0	7	89				
HKR1	284459	broad.mit.edu	37	19	37853831	37853831	+	Silent	SNP	G	G	A			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr19:37853831G>A	ENST00000324411.4	+	6	1403	c.1134G>A	c.(1132-1134)gcG>gcA	p.A378A	HKR1_ENST00000591471.1_Silent_p.A105A|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000541583.2_Silent_p.A317A|HKR1_ENST00000544914.1_Silent_p.A105A|HKR1_ENST00000589392.1_Silent_p.A360A|HKR1_ENST00000392153.3_Silent_p.A359A	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	378					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACCAGAGGGCGCACACTGGGG	0.532																																						ENST00000591471.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(313-315)gcG>gcA		HKR1, GLI-Kruppel zinc finger family member							90.0	80.0	84.0					19																	37853831		2203	4300	6503	SO:0001819	synonymous_variant	284459				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37853831G>A	M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"""Zinc fingers, C2H2-type"", ""-"""	4928	protein-coding gene	gene with protein product	"""oncogene HKR1"""	165250	"""GLI-Kruppel family member HKR1"""			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.1134G>A	19.37:g.37853831G>A						HKR1_ENST00000589392.1_Silent_p.A360A|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000324411.4_Silent_p.A378A|HKR1_ENST00000392153.3_Silent_p.A359A|HKR1_ENST00000541583.2_Silent_p.A317A|HKR1_ENST00000544914.1_Silent_p.A105A	p.A105A			P10072	HKR1_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		9	1956	+			378					A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Silent	SNP	ENST00000324411.4	37	c.315G>A	CCDS12502.1																																																																																				0.532	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786		6	510	0	0	0	1	0	6	510				
PNPLA6	10908	broad.mit.edu	37	19	7615219	7615219	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr19:7615219C>T	ENST00000221249.6	+	18	2164	c.1733C>T	c.(1732-1734)gCg>gTg	p.A578V	PNPLA6_ENST00000600737.1_Missense_Mutation_p.A617V|PNPLA6_ENST00000450331.3_Missense_Mutation_p.A578V|PNPLA6_ENST00000414982.3_Missense_Mutation_p.A626V|PNPLA6_ENST00000545201.2_Missense_Mutation_p.A552V|PNPLA6_ENST00000594864.1_3'UTR	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	617					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GTGCTGAGTGCGGCGCACACG	0.642																																						ENST00000221249.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1732-1734)gCg>gTg		patatin-like phospholipase domain containing 6							62.0	59.0	60.0					19																	7615219		2201	4288	6489	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7615219C>T	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1733C>T	19.37:g.7615219C>T	ENSP00000221249:p.Ala578Val					PNPLA6_ENST00000414982.3_Missense_Mutation_p.A626V|PNPLA6_ENST00000450331.3_Missense_Mutation_p.A578V|PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000600737.1_Missense_Mutation_p.A617V|PNPLA6_ENST00000545201.2_Missense_Mutation_p.A552V	p.A578V	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN			18	2164	+			617					A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.1733C>T	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	C	5.604	0.296179	0.10622	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.03441	3.97;3.93;3.96;3.97	5.1	4.07	0.47477	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.244474	0.40222	N	0.001144	T	0.00845	0.0028	N	0.00193	-1.875	0.32947	D	0.519235	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.08055	0.001;0.001;0.003;0.001	T	0.30327	-0.9982	10	0.02654	T	1	.	7.8227	0.29296	0.0:0.8132:0.0:0.1868	.	617;552;617;578	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	V	578;552;626;578	ENSP00000221249:A578V;ENSP00000443323:A552V;ENSP00000407509:A626V;ENSP00000394348:A578V	ENSP00000221249:A578V	A	+	2	0	PNPLA6	7521219	0.994000	0.37717	0.213000	0.23690	0.969000	0.65631	2.952000	0.49097	1.163000	0.42636	0.591000	0.81541	GCG		0.642	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		48	564	0	0	0	1	0	48	564				
ZNF331	55422	broad.mit.edu	37	19	54074910	54074910	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr19:54074910C>T	ENST00000253144.9	+	6	1395	c.62C>T	c.(61-63)gCc>gTc	p.A21V	ZNF331_ENST00000513999.1_Missense_Mutation_p.A21V|ZNF331_ENST00000511154.1_Missense_Mutation_p.A21V|ZNF331_ENST00000511593.2_Missense_Mutation_p.A21V|ZNF331_ENST00000411977.2_Missense_Mutation_p.A21V|ZNF331_ENST00000512387.1_Missense_Mutation_p.A21V|ZNF331_ENST00000449416.1_Missense_Mutation_p.A21V|ZNF331_ENST00000513265.1_Missense_Mutation_p.A21V	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	21	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GAGGAGTGGGCCTGTCTGAAC	0.502			T	?	follicular thyroid adenoma																																	ENST00000253144.9				Dom	yes		19	19q13.3-q13.4	55422	T	zinc finger protein 331			E	?		follicular thyroid adenoma		0				NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(61-63)gCc>gTc		zinc finger protein 331							290.0	276.0	281.0					19																	54074910		2203	4300	6503	SO:0001583	missense	55422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:54074910C>T	AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.62C>T	19.37:g.54074910C>T	ENSP00000253144:p.Ala21Val					ZNF331_ENST00000513265.1_Missense_Mutation_p.A21V|ZNF331_ENST00000513999.1_Missense_Mutation_p.A21V|ZNF331_ENST00000449416.1_Missense_Mutation_p.A21V|ZNF331_ENST00000511154.1_Missense_Mutation_p.A21V|ZNF331_ENST00000411977.2_Missense_Mutation_p.A21V|ZNF331_ENST00000511593.2_Missense_Mutation_p.A21V|ZNF331_ENST00000512387.1_Missense_Mutation_p.A21V	p.A21V	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN		GBM - Glioblastoma multiforme(134;0.00555)	6	1395	+			21			KRAB.		Q96GJ4	Missense_Mutation	SNP	ENST00000253144.9	37	c.62C>T	CCDS33102.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.301655	0.60195	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000502248;ENST00000449416;ENST00000514374;ENST00000411977;ENST00000511154;ENST00000509047;ENST00000509585;ENST00000513999;ENST00000512387;ENST00000511567;ENST00000514022;ENST00000505949;ENST00000513265;ENST00000502616;ENST00000504493;ENST00000505426	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.01887	4.58;4.58;4.58;4.58;4.58;4.58;4.58;4.58;4.58;4.58;4.58;4.58;4.58;4.58;4.58;4.58;4.58;4.58	4.08	2.97	0.34412	Krueppel-associated box (4);	.	.	.	.	T	0.03651	0.0104	L	0.28400	0.85	0.22017	N	0.999415	D	0.63046	0.992	P	0.54372	0.75	T	0.49890	-0.8891	9	0.36615	T	0.2	.	7.072	0.25183	0.1924:0.6205:0.1871:0.0	.	21	Q9NQX6	ZN331_HUMAN	V	21	ENSP00000253144:A21V;ENSP00000427439:A21V;ENSP00000423675:A21V;ENSP00000393817:A21V;ENSP00000424835:A21V;ENSP00000393336:A21V;ENSP00000421014:A21V;ENSP00000423263:A21V;ENSP00000426155:A21V;ENSP00000423156:A21V;ENSP00000421728:A21V;ENSP00000426127:A21V;ENSP00000422471:A21V;ENSP00000427532:A21V;ENSP00000426458:A21V;ENSP00000422586:A21V;ENSP00000425517:A21V;ENSP00000424929:A21V	ENSP00000253144:A21V	A	+	2	0	ZNF331	58766722	0.033000	0.19621	0.916000	0.36221	0.658000	0.38924	-0.010000	0.12743	2.124000	0.65301	0.655000	0.94253	GCC		0.502	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555		69	1047	0	0	0	1	0	69	1047				
MIR509-1	574514	broad.mit.edu	37	X	146342142	146342142	+	RNA	SNP	T	T	A			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chrX:146342142T>A	ENST00000385265.1	-	0	1				MIR509-3_ENST00000390725.1_RNA|MIR509-2_ENST00000390724.1_RNA	NR_030236.1|NR_030586.1				microRNA 509-1																		ACACACAGCATGTCTGAGGAT	0.433																																						ENST00000385265.1																			0																				137.0	120.0	125.0					X																	146342142		1568	3579	5147			0							g.chrX:146342142T>A			Xq27.3	2011-09-12	2007-10-23	2008-12-18	ENSG00000208000	ENSG00000208000		"""ncRNAs / Micro RNAs"""	32146	non-coding RNA	RNA, micro		300875	"""microRNA 509"""	MIRN509, MIRN509-1			Standard	NR_030236		Approved	hsa-mir-509, hsa-mir-509-1	uc022cfy.1				X.37:g.146342142T>A								NR_030236.1|NR_030586.1						0	1	-									RNA	SNP	ENST00000385265.1	37																																																																																						0.433	MIR509-1-201	KNOWN	basic	miRNA	miRNA		NR_030236		8	1407	0	0	0	1	0	8	1407				
HEY1	23462	broad.mit.edu	37	8	80677993	80677993	+	Silent	SNP	C	C	T			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr8:80677993C>T	ENST00000354724.3	-	5	544	c.345G>A	c.(343-345)gcG>gcA	p.A115A	HEY1_ENST00000523976.1_Silent_p.A25A|HEY1_ENST00000435063.2_5'UTR|HEY1_ENST00000337919.5_Silent_p.A119A|RP11-27N21.3_ENST00000607172.1_lincRNA	NM_012258.3	NP_036390.3	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1	115	Transcriptional repression and interaction with NCOR1 and SIN3A. {ECO:0000250}.				angiogenesis (GO:0001525)|anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular valve formation (GO:0003190)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac septum morphogenesis (GO:0060411)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to glucocorticoid stimulus (GO:0071385)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion morphogenesis (GO:0003203)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve morphogenesis (GO:0003184)|regulation of vasculogenesis (GO:2001212)|transcription from RNA polymerase II promoter (GO:0006366)|umbilical cord morphogenesis (GO:0036304)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A115A(2)|p.A119A(1)	HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			CAAGGGCGTGCGCGTCAAAGT	0.488			T	NCOA2	mesenchymal chondrosarcoma						OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000337919.5				Dom	yes		8	8q21	23462	T	hairy/enhancer-of-split related with YRPW motif 1			M	NCOA2		mesenchymal chondrosarcoma	HEY1/NCOA2(10)	3	Substitution - coding silent(3)	p.A115A(2)|p.A119A(1)	lung(2)|large_intestine(1)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22						c.(355-357)gcG>gcA		hes-related family bHLH transcription factor with YRPW motif 1							42.0	44.0	43.0					8																	80677993		2203	4300	6503	SO:0001819	synonymous_variant	23462				angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr8:80677993C>T	AF151522	CCDS6225.1, CCDS43749.1, CCDS64915.1	8q21	2013-10-17	2013-10-17					"""Basic helix-loop-helix proteins"""	4880	protein-coding gene	gene with protein product		602953	"""hairy/enhancer-of-split related with YRPW motif 1"""			10415358, 10403790	Standard	NM_001040708		Approved	HESR-1, CHF2, HESR1, HRT-1, CHF-2, HERP2, BHLHb31	uc003ybl.3	Q9Y5J3		ENST00000354724.3:c.345G>A	8.37:g.80677993C>T			OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1200	HEY1_ENST00000354724.3_Silent_p.A115A|HEY1_ENST00000523976.1_Silent_p.A25A|HEY1_ENST00000435063.2_5'UTR	p.A119A	NM_001040708.1	NP_001035798.1	Q9Y5J3	HEY1_HUMAN	Epithelial(68;0.076)|all cancers(69;0.179)		5	550	-	all_lung(9;5.1e-05)		115					B2R883|Q5TZS3|Q8NAM2|Q9NYP4	Silent	SNP	ENST00000354724.3	37	c.357G>A	CCDS6225.1																																																																																				0.488	HEY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379516.1	NM_012258		5	180	0	0	0	1	0	5	180				
BMPR1A	657	broad.mit.edu	37	10	88649818	88649818	+	Splice_Site	SNP	G	G	A			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr10:88649818G>A	ENST00000372037.3	+	4	604		c.e4-1		BMPR1A_ENST00000480152.1_Splice_Site|RNU1-19P_ENST00000363306.1_RNA	NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA						BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						TTTGAATGCAGGACAGAATCT	0.363			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2																												Ovarian(190;603 2086 22044 30335 47971)	ENST00000372037.2			yes	Rec		Juvenile polyposis	10	10q22.3	657	"""Mis, N, F"""	"""bone morphogenetic protein receptor, type IA"""			E		gastrointestinal polyps			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						c.e4-1		bone morphogenetic protein receptor, type IA							82.0	80.0	80.0					10																	88649818		2203	4300	6503	SO:0001630	splice_region_variant	657	Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity	g.chr10:88649818G>A	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779		"""CD molecules"""	1076	protein-coding gene	gene with protein product		601299		ACVRLK3		8397373, 9730621	Standard	NM_004329		Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.68-1G>A	10.37:g.88649818G>A						BMPR1A_ENST00000480152.1_Splice_Site		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN			4	604	+								A8K6U9|Q8NEN8	Splice_Site	SNP	ENST00000372037.3	37		CCDS7378.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632276	0.67015	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	.	.	.	6.01	6.01	0.97437	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5211	0.99222	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BMPR1A	88639798	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	9.065000	0.93941	2.861000	0.98227	0.650000	0.86243	.		0.363	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049170.3	NM_004329	Intron	108	121	0	0	0	1	0	108	121				
SHMT2	6472	broad.mit.edu	37	12	57624691	57624691	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr12:57624691G>A	ENST00000328923.3	+	2	591	c.139G>A	c.(139-141)Gag>Aag	p.E47K	SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000553474.1_Missense_Mutation_p.E26K|SHMT2_ENST00000557487.1_Missense_Mutation_p.E47K|SHMT2_ENST00000393827.4_5'UTR|SHMT2_ENST00000449049.3_Missense_Mutation_p.E26K|SHMT2_ENST00000414700.3_Missense_Mutation_p.E26K|Y_RNA_ENST00000365197.1_RNA	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	47					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	GACAGGCCAGGAGAGCCTGTC	0.617																																					Esophageal Squamous(150;1369 2416 49071 49364)	ENST00000328923.3																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(139-141)Gag>Aag		serine hydroxymethyltransferase 2 (mitochondrial)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						97.0	81.0	87.0					12																	57624691		2203	4300	6503	SO:0001583	missense	6472					microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity	g.chr12:57624691G>A	AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.139G>A	12.37:g.57624691G>A	ENSP00000333667:p.Glu47Lys					SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000414700.3_Missense_Mutation_p.E26K|SHMT2_ENST00000449049.3_Missense_Mutation_p.E26K|SHMT2_ENST00000393827.4_5'UTR|SHMT2_ENST00000557487.1_Missense_Mutation_p.E47K|SHMT2_ENST00000553474.1_Missense_Mutation_p.E26K	p.E47K	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN			2	591	+			47					B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Missense_Mutation	SNP	ENST00000328923.3	37	c.139G>A	CCDS8934.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807000	0.70797	.	.	ENSG00000182199	ENST00000328923;ENST00000557487;ENST00000556689;ENST00000414700;ENST00000557703;ENST00000553529;ENST00000554310;ENST00000557427;ENST00000553474;ENST00000555773;ENST00000554975;ENST00000449049;ENST00000556737	T;T;T;T;T;T;T;T;T;T;T;T	0.29917	1.59;1.55;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59	4.81	4.81	0.61882	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.13286	0.0322	N	0.08118	0	0.80722	D	1	B;P	0.35208	0.044;0.49	B;B	0.24541	0.005;0.054	T	0.11842	-1.0571	10	0.06494	T	0.89	-7.6156	17.1828	0.86859	0.0:0.0:1.0:0.0	.	47;47	Q8N1A5;P34897	.;GLYM_HUMAN	K	47;47;47;26;26;26;26;26;26;26;26;26;26	ENSP00000333667:E47K;ENSP00000452315:E47K;ENSP00000406881:E26K;ENSP00000450452:E26K;ENSP00000452161:E26K;ENSP00000450893:E26K;ENSP00000452045:E26K;ENSP00000452419:E26K;ENSP00000451968:E26K;ENSP00000452404:E26K;ENSP00000413770:E26K;ENSP00000451495:E26K	ENSP00000333667:E47K	E	+	1	0	SHMT2	55910958	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.924000	0.92827	2.668000	0.90789	0.655000	0.94253	GAG		0.617	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	NM_005412		7	638	0	0	0	1	0	7	638				
TSHZ1	10194	broad.mit.edu	37	18	72998635	72998635	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr18:72998635C>A	ENST00000580243.1	+	2	1621	c.1273C>A	c.(1273-1275)Cac>Aac	p.H425N	TSHZ1_ENST00000322038.5_Missense_Mutation_p.H380N			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	425					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		TGGCAGCTCCCACGACACGCT	0.597																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(1138-1140)Cac>Aac		teashirt zinc finger homeobox 1							63.0	62.0	63.0					18																	72998635		2203	4300	6503	SO:0001583	missense	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72998635C>A	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.1273C>A	18.37:g.72998635C>A	ENSP00000464391:p.His425Asn					TSHZ1_ENST00000580243.1_Missense_Mutation_p.H425N	p.H380N	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	1722	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	425					O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37	c.1138C>A		.	.	.	.	.	.	.	.	.	.	C	13.45	2.242080	0.39598	.	.	ENSG00000179981	ENST00000322038	T	0.27890	1.64	5.27	5.27	0.74061	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.48484	0.1502	L	0.36672	1.1	0.51233	D	0.999917	D	0.76494	0.999	D	0.81914	0.995	T	0.51419	-0.8708	10	0.72032	D	0.01	-18.4149	18.8997	0.92437	0.0:1.0:0.0:0.0	.	425	Q6ZSZ6	TSH1_HUMAN	N	380	ENSP00000323584:H380N	ENSP00000323584:H380N	H	+	1	0	TSHZ1	71127623	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.421000	0.80204	1.986000	0.57962	0.459000	0.35465	CAC		0.597	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		68	157	1	0	3.61411e-23	1	3.82129e-23	68	157				
H3F3C	440093	broad.mit.edu	37	12	31944965	31944965	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr12:31944965C>T	ENST00000340398.3	-	1	210	c.136G>A	c.(136-138)Gtg>Atg	p.V46M		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	46					positive regulation of cell growth (GO:0030307)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	nucleosomal DNA binding (GO:0031492)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						CGAAGCGCCACGGTCCCAGGC	0.607										HNSCC(67;0.2)																												ENST00000340398.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						c.(136-138)Gtg>Atg		H3 histone, family 3C							65.0	62.0	63.0					12																	31944965		2203	4300	6503	SO:0001583	missense	440093				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr12:31944965C>T	BC066906	CCDS31769.1	12p11.21	2012-02-15			ENSG00000188375	ENSG00000188375		"""Histones / Replication-independent"""	33164	protein-coding gene	gene with protein product						21274551	Standard	NM_001013699		Approved	H3.5	uc001rkr.3	Q6NXT2	OTTHUMG00000157811	ENST00000340398.3:c.136G>A	12.37:g.31944965C>T	ENSP00000339835:p.Val46Met	HNSCC(67;0.2)					p.V46M	NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN			1	210	-			46					E9P281	Missense_Mutation	SNP	ENST00000340398.3	37	c.136G>A	CCDS31769.1	.	.	.	.	.	.	.	.	.	.	C	6.720	0.501494	0.12822	.	.	ENSG00000188375	ENST00000340398	T	0.47177	0.85	0.811	-0.295	0.12828	Histone-fold (2);	1.340500	0.06684	U	0.768422	T	0.47691	0.1459	M	0.91920	3.255	0.30440	N	0.77624	P	0.39883	0.693	B	0.24269	0.052	T	0.53995	-0.8359	10	0.72032	D	0.01	.	5.2632	0.15586	0.0:0.7553:0.0:0.2447	.	46	Q6NXT2	H3C_HUMAN	M	46	ENSP00000339835:V46M	ENSP00000339835:V46M	V	-	1	0	H3F3C	31836232	0.991000	0.36638	0.007000	0.13788	0.019000	0.09904	2.837000	0.48191	-0.094000	0.12374	0.413000	0.27773	GTG		0.607	H3F3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349653.1	NM_001013699		126	232	0	0	0	1	0	126	232				
MAGI2	9863	broad.mit.edu	37	7	77797280	77797280	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr7:77797280C>T	ENST00000354212.4	-	15	2802	c.2549G>A	c.(2548-2550)cGc>cAc	p.R850H	MAGI2_ENST00000419488.1_Missense_Mutation_p.R836H|MAGI2_ENST00000522391.1_Missense_Mutation_p.R850H	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	850	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTGCCCATTGCGGGCTGCGTG	0.547																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(2548-2550)cGc>cAc		membrane associated guanylate kinase, WW and PDZ domain containing 2							221.0	200.0	207.0					7																	77797280		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77797280C>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2549G>A	7.37:g.77797280C>T	ENSP00000346151:p.Arg850His					MAGI2_ENST00000522391.1_Missense_Mutation_p.R850H|MAGI2_ENST00000419488.1_Missense_Mutation_p.R836H	p.R850H	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			15	2802	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	850			PDZ 4.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.2549G>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	35	5.566765	0.96540	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.27557	1.66;1.66;1.66	5.96	5.96	0.96718	PDZ/DHR/GLGF (4);	0.000000	0.36101	U	0.002791	T	0.51210	0.1661	L	0.45228	1.405	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	T	0.45338	-0.9268	10	0.72032	D	0.01	.	19.4074	0.94653	0.0:1.0:0.0:0.0	.	850;836;850	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	H	836;850;850;850	ENSP00000405766:R836H;ENSP00000346151:R850H;ENSP00000428389:R850H	ENSP00000346151:R850H	R	-	2	0	MAGI2	77635216	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.079000	0.71291	2.831000	0.97527	0.650000	0.86243	CGC		0.547	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		7	842	0	0	0	1	0	7	842				
NEO1	4756	broad.mit.edu	37	15	73562521	73562521	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr15:73562521C>T	ENST00000339362.5	+	18	3112	c.2665C>T	c.(2665-2667)Cga>Tga	p.R889*	NEO1_ENST00000560262.1_Nonsense_Mutation_p.R889*|NEO1_ENST00000261908.6_Nonsense_Mutation_p.R889*|NEO1_ENST00000558964.1_Nonsense_Mutation_p.R889*			Q92859	NEO1_HUMAN	neogenin 1	889	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TACAGACTCCCGATACTACAC	0.488																																						ENST00000339362.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.(2665-2667)Cga>Tga		neogenin 1							103.0	97.0	99.0					15																	73562521		2198	4297	6495	SO:0001587	stop_gained	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73562521C>T	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.2665C>T	15.37:g.73562521C>T	ENSP00000341198:p.Arg889*					NEO1_ENST00000261908.6_Nonsense_Mutation_p.R889*|NEO1_ENST00000558964.1_Nonsense_Mutation_p.R889*|NEO1_ENST00000560262.1_Nonsense_Mutation_p.R889*	p.R889*			Q92859	NEO1_HUMAN			18	3112	+			889			Fibronectin type-III 5.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Nonsense_Mutation	SNP	ENST00000339362.5	37	c.2665C>T	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	C	41	8.568886	0.98868	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	.	.	.	5.54	3.62	0.41486	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1974	13.8703	0.63615	0.4007:0.5993:0.0:0.0	.	.	.	.	X	889;611;889	.	ENSP00000261908:R889X	R	+	1	2	NEO1	71349574	1.000000	0.71417	0.983000	0.44433	0.772000	0.43724	4.803000	0.62546	0.792000	0.33850	-0.169000	0.13324	CGA		0.488	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		156	168	0	0	0	1	0	156	168				
TRIM48	79097	broad.mit.edu	37	11	55035844	55035844	+	Missense_Mutation	SNP	T	T	C	rs544106865	byFrequency	TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr11:55035844T>C	ENST00000417545.2	+	4	660	c.574T>C	c.(574-576)Tac>Cac	p.Y192H		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	176						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Y192H(11)|p.Y176H(11)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGACATATTATACAGGTGAGT	0.338													t|||	59	0.0117812	0.0023	0.0043	5008	,	,		11619	0.0089		0.001	False		,,,				2504	0.044					ENST00000417545.2																			22	Substitution - Missense(22)	p.Y192H(11)|p.Y176H(11)	endometrium(22)	endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(574-576)Tac>Cac		tripartite motif containing 48							109.0	112.0	111.0					11																	55035844		2189	4259	6448	SO:0001583	missense	79097					intracellular	zinc ion binding	g.chr11:55035844T>C	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.574T>C	11.37:g.55035844T>C	ENSP00000402414:p.Tyr192His						p.Y192H	NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN			4	660	+			176					Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	c.574T>C	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	t	1.777	-0.482977	0.04383	.	.	ENSG00000150244	ENST00000417545	T	0.71934	-0.61	.	.	.	.	.	.	.	.	T	0.38108	0.1028	N	0.02142	-0.665	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23655	-1.0182	7	0.24483	T	0.36	.	.	.	.	.	176	Q8IWZ4	TRI48_HUMAN	H	192	ENSP00000402414:Y192H	ENSP00000402414:Y192H	Y	+	1	0	TRIM48	54792420	0.459000	0.25768	0.171000	0.22900	0.171000	0.22731	-0.564000	0.05936	0.103000	0.17682	0.102000	0.15555	TAC		0.338	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			5	219	0	0	0	1	0	5	219				
ADAM11	4185	broad.mit.edu	37	17	42849820	42849820	+	Nonsense_Mutation	SNP	A	A	T			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr17:42849820A>T	ENST00000200557.6	+	8	833	c.664A>T	c.(664-666)Aga>Tga	p.R222*	ADAM11_ENST00000535346.1_Missense_Mutation_p.E23V	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	222					integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GCCGAGGCTGAGAAGGAAAAG	0.706																																						ENST00000200557.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(664-666)Aga>Tga		ADAM metallopeptidase domain 11							13.0	16.0	15.0					17																	42849820		2166	4260	6426	SO:0001587	stop_gained	4185				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr17:42849820A>T	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.664A>T	17.37:g.42849820A>T	ENSP00000200557:p.Arg222*					ADAM11_ENST00000535346.1_Missense_Mutation_p.E23V	p.R222*	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN			8	833	+		Prostate(33;0.0959)	222					Q14808|Q14809|Q14810	Nonsense_Mutation	SNP	ENST00000200557.6	37	c.664A>T	CCDS11486.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.0|25.0	4.591277|4.591277	0.86851|0.86851	.|.	.|.	ENSG00000073670|ENSG00000073670	ENST00000535346|ENST00000200557;ENST00000355638	T|.	0.01548|.	4.78|.	4.44|4.44	4.44|4.44	0.53790|0.53790	.|.	.|0.435744	.|0.23414	.|N	.|0.048430	T|.	0.14227|.	0.0344|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	B|.	0.11235|.	0.004|.	B|.	0.09377|.	0.004|.	T|.	0.24799|.	-1.0150|.	8|.	0.42905|0.05833	T|T	0.14|0.94	.|.	8.0803|8.0803	0.30741|0.30741	0.7944:0.2056:0.0:0.0|0.7944:0.2056:0.0:0.0	.|.	23|.	B4DKD2|.	.|.	V|X	23|222;122	ENSP00000443773:E23V|.	ENSP00000443773:E23V|ENSP00000200557:R222X	E|R	+|+	2|1	0|2	ADAM11|ADAM11	40205346|40205346	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	1.865000|1.865000	0.39479|0.39479	1.867000|1.867000	0.54127|0.54127	0.402000|0.402000	0.26972|0.26972	GAG|AGA		0.706	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390		3	39	0	0	0	1	0	3	39				
INTS4	92105	broad.mit.edu	37	11	77614629	77614629	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr11:77614629A>G	ENST00000534064.1	-	17	2088	c.2054T>C	c.(2053-2055)tTg>tCg	p.L685S	AAMDC_ENST00000532481.1_Intron|INTS4_ENST00000535943.1_Missense_Mutation_p.L60S	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	685					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.L685S(3)	INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CTTCAAATACAAAGGGGCAGC	0.478																																						ENST00000534064.1																		INTS4/GAB2(2)	3	Substitution - Missense(3)	p.L685S(3)	lung(2)|kidney(1)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32						c.(2053-2055)tTg>tCg		integrator complex subunit 4							68.0	58.0	62.0					11																	77614629		2200	4292	6492	SO:0001583	missense	92105				snRNA processing	integrator complex	protein binding	g.chr11:77614629A>G	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.2054T>C	11.37:g.77614629A>G	ENSP00000434466:p.Leu685Ser					INTS4_ENST00000535943.1_Missense_Mutation_p.L60S|AAMDC_ENST00000532481.1_Intron	p.L685S	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)		17	2088	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		685					Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	ENST00000534064.1	37	c.2054T>C	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.195955	0.78902	.	.	ENSG00000149262	ENST00000534064;ENST00000535943	.	.	.	4.41	4.41	0.53225	.	0.000000	0.64402	D	0.000001	T	0.73961	0.3654	L	0.58669	1.825	0.58432	D	0.999995	D	0.65815	0.995	D	0.70487	0.969	T	0.75531	-0.3285	9	0.51188	T	0.08	-8.1774	13.7688	0.63012	1.0:0.0:0.0:0.0	.	685	Q96HW7	INT4_HUMAN	S	685;60	.	ENSP00000434466:L685S	L	-	2	0	INTS4	77292277	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.473000	0.81007	1.982000	0.57802	0.477000	0.44152	TTG		0.478	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		4	113	0	0	0	1	0	4	113				
LILRA2	11027	broad.mit.edu	37	19	55086932	55086932	+	Missense_Mutation	SNP	C	C	T	rs532565720	byFrequency	TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr19:55086932C>T	ENST00000251377.3	+	6	998	c.865C>T	c.(865-867)Cac>Tac	p.H289Y	LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y|LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRB1_ENST00000448689.1_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	289	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.H289Y(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GAGCCCCTCCCACGGGGGCCA	0.647													c|||	6	0.00119808	0.0	0.0014	5008	,	,		16291	0.0		0.0	False		,,,				2504	0.0051					ENST00000251377.3																			1	Substitution - Missense(1)	p.H289Y(1)	kidney(1)	breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(865-867)Cac>Tac		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							49.0	51.0	50.0					19																	55086932		2203	4299	6502	SO:0001583	missense	0							g.chr19:55086932C>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.865C>T	19.37:g.55086932C>T	ENSP00000251377:p.His289Tyr					LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000418536.2_Intron	p.H289Y						GBM - Glioblastoma multiforme(193;0.0963)	6	998	+								O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.865C>T	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	8.190	0.795735	0.16327	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.00824	5.65;5.65;5.65;5.65;5.65	2.8	2.8	0.32819	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.843870	0.10052	N	0.722156	T	0.02767	0.0083	M	0.81179	2.53	0.25235	N	0.989797	B;B;B;B	0.17038	0.018;0.02;0.009;0.001	B;B;B;B	0.38458	0.274;0.077;0.077;0.015	T	0.36648	-0.9739	10	0.28530	T	0.3	.	9.2391	0.37484	0.0:1.0:0.0:0.0	.	289;277;289;289	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	Y	289;289;289;289;277	ENSP00000388131:H289Y;ENSP00000251377:H289Y;ENSP00000375618:H289Y;ENSP00000251376:H289Y;ENSP00000375617:H277Y	ENSP00000251376:H289Y	H	+	1	0	LILRA2	59778744	0.000000	0.05858	0.006000	0.13384	0.119000	0.20118	0.417000	0.21214	1.570000	0.49709	0.400000	0.26472	CAC		0.647	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			9	411	0	0	0	1	0	9	411				
CDC23	8697	broad.mit.edu	37	5	137548883	137548883	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr5:137548883G>A	ENST00000394886.2	-	1	149	c.119C>T	c.(118-120)gCg>gTg	p.A40V	CDC23_ENST00000505120.1_Missense_Mutation_p.A40V|CDC23_ENST00000394884.3_Missense_Mutation_p.A40V	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	40					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGTAAGGCCCGCAATAAGCAG	0.572																																						ENST00000394886.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23						c.(118-120)gCg>gTg		cell division cycle 23							80.0	90.0	87.0					5																	137548883		2203	4300	6503	SO:0001583	missense	8697				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|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|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	g.chr5:137548883G>A	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.119C>T	5.37:g.137548883G>A	ENSP00000378350:p.Ala40Val					CDC23_ENST00000505120.1_Missense_Mutation_p.A40V|CDC23_ENST00000394884.3_Missense_Mutation_p.A40V	p.A40V	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		1	149	-			40					A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	37	c.119C>T	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	G	9.964	1.223576	0.22457	.	.	ENSG00000094880	ENST00000394886;ENST00000394884;ENST00000505120	T;T;T	0.42131	0.98;0.98;0.98	5.93	5.01	0.66863	Cdc23 (1);	0.107089	0.64402	D	0.000003	T	0.26593	0.0650	N	0.05467	-0.045	0.36629	D	0.876179	D;B	0.62365	0.991;0.034	P;B	0.47827	0.558;0.023	T	0.09885	-1.0654	10	0.02654	T	1	-12.4821	16.2719	0.82626	0.0:0.1325:0.8675:0.0	.	40;40	Q9UJX2-2;Q9UJX2	.;CDC23_HUMAN	V	40	ENSP00000378350:A40V;ENSP00000378348:A40V;ENSP00000423704:A40V	ENSP00000378348:A40V	A	-	2	0	CDC23	137576782	1.000000	0.71417	0.952000	0.39060	0.994000	0.84299	4.093000	0.57714	2.826000	0.97356	0.655000	0.94253	GCG		0.572	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			6	591	0	0	0	1	0	6	591				
TBP	6908	broad.mit.edu	37	6	170871070	170871070	+	Silent	SNP	G	G	A			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr6:170871070G>A	ENST00000392092.2	+	3	525	c.246G>A	c.(244-246)caG>caA	p.Q82Q	TBP_ENST00000230354.6_Silent_p.Q82Q|TBP_ENST00000540980.1_Silent_p.Q62Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	82	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.587																																						ENST00000392092.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(244-246)caG>caA		TATA box binding protein							11.0	17.0	15.0					6																	170871070		1946	3845	5791	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871070G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.246G>A	6.37:g.170871070G>A						TBP_ENST00000540980.1_Silent_p.Q62Q|TBP_ENST00000230354.6_Silent_p.Q82Q	p.Q82Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	525	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	82			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.246G>A	CCDS5315.1																																																																																				0.587	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		4	96	0	0	0	1	0	4	96				
FBXO15	201456	broad.mit.edu	37	18	71790685	71790685	+	Silent	SNP	G	G	A	rs573445550		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr18:71790685G>A	ENST00000419743.2	-	8	1135	c.1056C>T	c.(1054-1056)caC>caT	p.H352H	FBXO15_ENST00000269500.5_Silent_p.H276H	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	352						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GTTGGTAGCCGTGCAGTCCAT	0.443													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14837	0.0		0.0	False		,,,				2504	0.0					ENST00000269500.5																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(826-828)caC>caT		F-box protein 15							78.0	72.0	74.0					18																	71790685		2203	4300	6503	SO:0001819	synonymous_variant	201456							g.chr18:71790685G>A	AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1056C>T	18.37:g.71790685G>A						FBXO15_ENST00000419743.2_Silent_p.H352H	p.H276H	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.143)	8	1163	-		Esophageal squamous(42;0.103)|Prostate(75;0.173)	276					B3KST3	Silent	SNP	ENST00000419743.2	37	c.828C>T	CCDS45884.1																																																																																				0.443	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	NM_152676		6	327	0	0	0	1	0	6	327				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		9	241	0	0	0	1	0	9	241				
SYNGAP1	8831	broad.mit.edu	37	6	33411215	33411215	+	Silent	SNP	C	C	T			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr6:33411215C>T	ENST00000418600.2	+	15	2987	c.2886C>T	c.(2884-2886)caC>caT	p.H962H	SYNGAP1_ENST00000428982.2_Silent_p.H903H|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Silent_p.H962H	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	962					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						accaccaccaccatcaccacc	0.657																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(2884-2886)caC>caT		synaptic Ras GTPase activating protein 1							83.0	91.0	88.0					6																	33411215		2202	4300	6502	SO:0001819	synonymous_variant	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33411215C>T	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2886C>T	6.37:g.33411215C>T						SYNGAP1_ENST00000293748.5_Silent_p.H962H|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Silent_p.H903H	p.H962H	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			15	2987	+			962					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Silent	SNP	ENST00000418600.2	37	c.2886C>T	CCDS34434.2																																																																																				0.657	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		6	551	0	0	0	1	0	6	551				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		5	221	0	0	0	1	0	5	221				
ARHGEF5	7984	broad.mit.edu	37	7	144075960	144075960	+	Splice_Site	SNP	G	G	A			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr7:144075960G>A	ENST00000056217.5	+	14	4810		c.e14+1		ARHGEF5_ENST00000471847.2_Splice_Site	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5						actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					AGCAGTGACGGTAAGCGGGAG	0.587																																						ENST00000056217.5																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.e14+1		Rho guanine nucleotide exchange factor (GEF) 5							152.0	124.0	133.0					7																	144075960		2203	4300	6503	SO:0001630	splice_region_variant	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144075960G>A	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.4636+1G>A	7.37:g.144075960G>A						ARHGEF5_ENST00000471847.2_Splice_Site		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN			14	4810	+	Melanoma(164;0.14)							A6NNJ2|Q6ZML7	Splice_Site	SNP	ENST00000056217.5	37		CCDS34771.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792429	0.50102	.	.	ENSG00000050327	ENST00000056217;ENST00000474817;ENST00000344879;ENST00000471847	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7991	0.88581	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGEF5	143706893	1.000000	0.71417	1.000000	0.80357	0.228000	0.25075	8.334000	0.90028	2.808000	0.96608	0.655000	0.94253	.		0.587	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435	Intron	6	599	0	0	0	1	0	6	599				
BAGE2	85319	broad.mit.edu	37	21	11058248	11058248	+	RNA	SNP	G	G	A	rs8130203	byFrequency	TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr21:11058248G>A	ENST00000470054.1	-	0	399							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCAGCACAAGGATAATGATAC	0.433																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							80.0	67.0	71.0					21																	11058248		692	1591	2283			85319							g.chr21:11058248G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058248G>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	399	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.433	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		11	516	0	0	0	1	0	11	516				
AADACL3	126767	broad.mit.edu	37	1	12785492	12785493	+	Frame_Shift_Ins	INS	-	-	T	rs570205705		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr1:12785492_12785493insT	ENST00000359318.5	+	4	787_788	c.582_583insT	c.(583-585)tgtfs	p.C195fs	AADACL3_ENST00000332530.3_Frame_Shift_Ins_p.C125fs	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	195			C -> F (in dbSNP:rs7513079). {ECO:0000269|PubMed:14702039}.				hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCATCTGCTACTGTTTTTTTCA	0.455																																						ENST00000332530.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15						c.(370-375)tagtttfs		arylacetamide deacetylase-like 3																																				SO:0001589	frameshift_variant	126767						hydrolase activity	g.chr1:12785492_12785493insT		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.583dupT	1.37:g.12785493_12785493dupT	ENSP00000352268:p.Cys195fs					AADACL3_ENST00000359318.5_Frame_Shift_Ins_p.*F194fs	p.*F124fs	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	3	598_599	+	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	194					B3KXR9|Q5VUY1	Frame_Shift_Ins	INS	ENST00000359318.5	37	c.372_373insT	CCDS41253.1																																																																																				0.455	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170		11	633						11	633	---	---	---	---
CYP4Z2P	163720	broad.mit.edu	37	1	47310359	47310360	+	RNA	INS	-	-	T	rs372212671		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	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		11	56						11	56	---	---	---	---
CYP4Z2P	163720	broad.mit.edu	37	1	47325313	47325315	+	RNA	DEL	GTT	GTT	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr1:47325313_47325315delGTT	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)										AAAAAAAAAAGTTGTTTTAAGAC	0.409																																						ENST00000505841.1																			0																																																			0							g.chr1:47325313_47325315delGTT	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.47325316_47325318delGTT								NR_002788.2						0	1204	-								Q66ZJ5	RNA	DEL	ENST00000505841.1	37																																																																																						0.409	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		8	276						8	276	---	---	---	---
BCL10	8915	broad.mit.edu	37	1	85736511	85736511	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	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	356						7	356	---	---	---	---
EPS8L3	79574	broad.mit.edu	37	1	110300579	110300580	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr1:110300579_110300580insT	ENST00000361965.4	-	9	924_925	c.818_819insA	c.(817-819)aacfs	p.N273fs	EPS8L3_ENST00000369805.3_Frame_Shift_Ins_p.N274fs|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.N273fs|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					EPS8L3_ENST00000361965.4_Frame_Shift_Ins_p.K273fs|EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.K273fs|RP4-735C1.4_ENST00000431955.1_RNA	p.K274fs	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	9	1050_1051	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	273					A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Frame_Shift_Ins	INS	ENST00000361965.4	37	c.821_822insA	CCDS814.1																																																																																				0.545	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		7	406						7	406	---	---	---	---
RP11-782C8.2	0	broad.mit.edu	37	1	143210193	143210194	+	lincRNA	INS	-	-	T			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	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			12	215						12	215	---	---	---	---
SPRR4	163778	broad.mit.edu	37	1	152944390	152944392	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	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		7	576						7	576	---	---	---	---
SMG7	9887	broad.mit.edu	37	1	183515266	183515267	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr1:183515266_183515267insA	ENST00000347615.2	+	17	2655_2656	c.2536_2537insA	c.(2536-2538)gaafs	p.E846fs	SMG7_ENST00000367537.3_Frame_Shift_Ins_p.E829fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.E758fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.E804fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.E800fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.E800fs	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	846					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)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GCAGCCTCTAGAAAAAAAAATG	0.45																																						ENST00000367537.3																			1	Unknown(1)	p.?(1)	skin(1)	breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2485-2487)aaafs		SMG7 nonsense mediated mRNA decay factor																																				SO:0001589	frameshift_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183515266_183515267insA	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2545dupA	1.37:g.183515275_183515275dupA	ENSP00000340766:p.Glu846fs					SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs|SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs	p.K829fs			Q92540	SMG7_HUMAN			18	2680_2681	+			846			Gln/Pro-rich.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Frame_Shift_Ins	INS	ENST00000347615.2	37	c.2485_2486insA	CCDS1355.1																																																																																				0.450	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		8	304						8	304	---	---	---	---
SMC6	79677	broad.mit.edu	37	2	17898126	17898126	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	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	230						7	230	---	---	---	---
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	CTG	-	rs539079430		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	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_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del	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		7	554						7	554	---	---	---	---
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	GAG	-	rs368798001		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr2:96992793_96992795delGAG	ENST00000439118.2	+	3	675_677	c.424_426delGAG	c.(424-426)gagdel	p.E147del	ITPRIPL1_ENST00000361124.4_In_Frame_Del_p.E155del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	147						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532																																						ENST00000361124.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(448-450)del		inositol 1,4,5-trisphosphate receptor interacting protein-like 1																																				SO:0001651	inframe_deletion	150771					integral to membrane		g.chr2:96992793_96992795delGAG		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.424_426delGAG	2.37:g.96992802_96992804delGAG	ENSP00000389308:p.Glu147del					ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del	p.E155del	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN			1	859_861	+			147					F5H1L8|Q8NE61	In_Frame_Del	DEL	ENST00000439118.2	37	c.448_450delGAG	CCDS46360.1																																																																																				0.532	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		8	226						8	226	---	---	---	---
PLA2R1	22925	broad.mit.edu	37	2	160801441	160801442	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	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			7	501						7	501	---	---	---	---
RBM45	129831	broad.mit.edu	37	2	178988920	178988920	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr2:178988920delA	ENST00000286070.5	+	8	1227	c.1135delA	c.(1135-1137)aaafs	p.K381fs		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	383					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A382fs*7(2)|p.?(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			TCCATCATGCAAAAAAAAAGC	0.353																																						ENST00000286070.5																			3	Deletion - Frameshift(2)|Unknown(1)	p.A382fs*7(2)|p.?(1)	large_intestine(2)|skin(1)	endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1135-1137)aafs		RNA binding motif protein 45				3,107,4156		0,0,3,40,27,2063	69.0	75.0	73.0			4.7	1.0	2		75	6,163,8085		0,0,6,55,53,4013	no	codingComplex	RBM45	NM_152945.2		0,0,9,95,80,6076	A1A1,A1A2,A1R,A2A2,A2R,RR		2.0475,2.5785,2.2284			178988920	9,270,12241	2203	4300	6503	SO:0001589	frameshift_variant	129831				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr2:178988920delA	AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"""RNA binding motif (RRM) containing"""	24468	protein-coding gene	gene with protein product	"""developmentally regulated RNA binding protein 1"""	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.1135delA	2.37:g.178988920delA	ENSP00000286070:p.Lys381fs						p.K381fs	NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)		8	1227	+			383					Q6NYL0|Q8NFC9	Frame_Shift_Del	DEL	ENST00000286070.5	37	c.1135delA	CCDS33335.1																																																																																				0.353	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	NM_152945		10	381						10	381	---	---	---	---
PDCD6IP	10015	broad.mit.edu	37	3	33866811	33866811	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	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	441						7	441	---	---	---	---
NKTR	4820	broad.mit.edu	37	3	42679035	42679036	+	Frame_Shift_Ins	INS	-	-	C			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr3:42679035_42679036insC	ENST00000232978.8	+	13	2027_2028	c.1839_1840insC	c.(1840-1842)cccfs	p.P614fs	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	614					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TGAGTGACAGTCCCCCCCCTTC	0.421																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(1837-1842)agccccfs		natural killer-tumor recognition sequence																																				SO:0001589	frameshift_variant	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42679035_42679036insC		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.1847dupC	3.37:g.42679043_42679043dupC	ENSP00000232978:p.Pro614fs					RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	p.SP613fs	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	2027_2028	+			613						Frame_Shift_Ins	INS	ENST00000232978.8	37	c.1839_1840insC	CCDS2702.1																																																																																				0.421	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		10	605						10	605	---	---	---	---
QRICH1	54870	broad.mit.edu	37	3	49094314	49094316	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr3:49094314_49094316delTGC	ENST00000395443.2	-	3	1789_1791	c.1317_1319delGCA	c.(1315-1320)cagcaa>caa	p.439_440QQ>Q	QRICH1_ENST00000424300.1_In_Frame_Del_p.439_440QQ>Q|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_In_Frame_Del_p.439_440QQ>Q	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	439	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AACTTGGAgttgctgctgctgct	0.562																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1315-1320)caa>ca		glutamine-rich 1																																				SO:0001651	inframe_deletion	54870							g.chr3:49094314_49094316delTGC		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1317_1319delGCA	3.37:g.49094323_49094325delTGC	ENSP00000378830:p.Gln440del					QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del|QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del|QRICH1_ENST00000479449.1_5'UTR	p.QQ439del	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1789_1791	-			439			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	In_Frame_Del	DEL	ENST00000395443.2	37	c.1317_1319delGCA	CCDS2787.1																																																																																				0.562	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		7	223						7	223	---	---	---	---
CACNA1D	776	broad.mit.edu	37	3	53529193	53529195	+	Start_Codon_Del	DEL	GAT	GAT	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr3:53529193_53529195delGAT	ENST00000350061.5	+	0	511_513				CACNA1D_ENST00000288139.4_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	aatgttcgtGgatgatgatgatg	0.581																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90								calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)																																			SO:0001582	initiator_codon_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53529193_53529195delGAT	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278		3.37:g.53529202_53529204delGAT						CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000350061.5_Start_Codon_Del		NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	0	118_120	+								B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Translation_Start_Site	DEL	ENST00000350061.5	37		CCDS46848.1																																																																																				0.581	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		13	382						13	382	---	---	---	---
ABCC5	10057	broad.mit.edu	37	3	183665256	183665257	+	Frame_Shift_Ins	INS	-	-	A	rs374387850		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr3:183665256_183665257insA	ENST00000334444.6	-	23	3509_3510	c.3269_3270insT	c.(3268-3270)ttgfs	p.L1090fs	ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.L1047fs	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1090	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	CACACGTAAACAAAAAAAAAGG	0.53																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3268-3270)tttfs		ATP-binding cassette, sub-family C (CFTR/MRP), member 5																																				SO:0001589	frameshift_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183665256_183665257insA	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3270dupT	3.37:g.183665265_183665265dupA	ENSP00000333926:p.Leu1090fs					ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.F1047fs	p.F1090fs	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		23	3509_3510	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1090			ABC transmembrane type-1 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Frame_Shift_Ins	INS	ENST00000334444.6	37	c.3269_3270insT	CCDS43176.1																																																																																				0.530	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		7	106						7	106	---	---	---	---
PROM1	8842	broad.mit.edu	37	4	15995680	15995680	+	Frame_Shift_Del	DEL	T	T	-	rs376676164		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr4:15995680delT	ENST00000510224.1	-	16	1945	c.1697delA	c.(1696-1698)aatfs	p.N566fs	PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000505450.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs			O43490	PROM1_HUMAN	prominin 1	566					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AGTGCCTCTATTTTTTTTGCA	0.428																																						ENST00000505450.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						c.(1669-1671)atfs		prominin 1							189.0	187.0	188.0					4																	15995680		1901	4120	6021	SO:0001589	frameshift_variant	8842				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	g.chr4:15995680delT	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.1697delA	4.37:g.15995680delT	ENSP00000426809:p.Asn566fs					PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs	p.N557fs	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN			15	2282	-			566					Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Frame_Shift_Del	DEL	ENST00000510224.1	37	c.1670delA	CCDS47029.1																																																																																				0.428	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017		7	449						7	449	---	---	---	---
CCKAR	886	broad.mit.edu	37	4	26483672	26483674	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr4:26483672_26483674delCTG	ENST00000295589.3	-	5	1067_1069	c.873_875delCAG	c.(871-876)agcagg>agg	p.S291del		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	291					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GCGGTTGGCCCTGCTGCTGCTGC	0.606																																						ENST00000295589.3																			0				NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29						c.(871-876)agg>ag		cholecystokinin A receptor	Ceruletide(DB00403)																																			SO:0001651	inframe_deletion	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26483672_26483674delCTG	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.873_875delCAG	4.37:g.26483681_26483683delCTG	ENSP00000295589:p.Ser291del						p.SR291del	NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN			5	1067_1069	-		Breast(46;0.0503)	291					B2R9Z5	In_Frame_Del	DEL	ENST00000295589.3	37	c.873_875delCAG	CCDS3438.1																																																																																				0.606	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			8	700						8	700	---	---	---	---
UGDH	7358	broad.mit.edu	37	4	39515752	39515753	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr4:39515752_39515753insA	ENST00000316423.6	-	3	556_557	c.214_215insT	c.(214-216)tctfs	p.S72fs	UGDH_ENST00000515398.1_5'UTR|UGDH_ENST00000507089.1_5'UTR|UGDH_ENST00000501493.2_Frame_Shift_Ins_p.S72fs|UGDH_ENST00000506179.1_Frame_Shift_Ins_p.S72fs	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	72					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)	p.S72fs*18(1)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						AATATTGGTAGAAAAAAAAAGA	0.297																																						ENST00000316423.6																			1	Deletion - Frameshift(1)	p.S72fs*18(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						c.(214-216)tacfs		UDP-glucose 6-dehydrogenase	NADH(DB00157)																																			SO:0001589	frameshift_variant	7358				glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	g.chr4:39515752_39515753insA	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"""UDP-glucose dehydrogenase"""			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.215dupT	4.37:g.39515761_39515761dupA	ENSP00000319501:p.Ser72fs					UGDH_ENST00000507089.1_5'UTR|UGDH_ENST00000506179.1_Frame_Shift_Ins_p.Y72fs|UGDH_ENST00000515398.1_5'UTR|UGDH_ENST00000501493.2_Frame_Shift_Ins_p.Y72fs	p.Y72fs	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN			3	556_557	-			72					B3KUU2|B4DN25|O60589	Frame_Shift_Ins	INS	ENST00000316423.6	37	c.214_215insT	CCDS3455.1																																																																																				0.297	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	NM_003359		13	730						13	730	---	---	---	---
CLOCK	9575	broad.mit.edu	37	4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr4:56304530_56304532delCTG	ENST00000309964.4	-	21	2528_2530	c.2278_2280delCAG	c.(2278-2280)cagdel	p.Q760del	CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	760	Gln-rich.|Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512																																						ENST00000309964.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2278-2280)del		clock circadian regulator																																				SO:0001651	inframe_deletion	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56304530_56304532delCTG	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2278_2280delCAG	4.37:g.56304539_56304541delCTG	ENSP00000308741:p.Gln760del					CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		21	2528_2530	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		760			Gln-rich.		A0AV01|A2I2N9|O14516|Q9UIT8	In_Frame_Del	DEL	ENST00000309964.4	37	c.2278_2280delCAG	CCDS3500.1																																																																																				0.512	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		10	316						10	316	---	---	---	---
UTP3	57050	broad.mit.edu	37	4	71554620	71554622	+	In_Frame_Del	DEL	GAG	GAG	-	rs369776055		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr4:71554620_71554622delGAG	ENST00000254803.2	+	1	425_427	c.226_228delGAG	c.(226-228)gagdel	p.E81del		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	81	Glu-rich.				brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			ggaggatggcgaggaggaggagg	0.567																																						ENST00000254803.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18						c.(226-228)del		UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	57050				brain development|chromatin modification|gene silencing	nucleolus		g.chr4:71554620_71554622delGAG	AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"""disrupter of silencing 10"""	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.226_228delGAG	4.37:g.71554629_71554631delGAG	ENSP00000254803:p.Glu81del						p.E81del	NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	Lung(101;0.235)		1	425_427	+			81			Glu-rich.		Q6FI82	In_Frame_Del	DEL	ENST00000254803.2	37	c.226_228delGAG	CCDS3546.1																																																																																				0.567	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252163.2	NM_020368		11	231						11	231	---	---	---	---
NAP1L5	266812	broad.mit.edu	37	4	89618484	89618486	+	In_Frame_Del	DEL	TCC	TCC	-	rs201095744|rs147461195	byFrequency	TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr4:89618484_89618486delTCC	ENST00000323061.5	-	1	900_902	c.420_422delGGA	c.(418-423)gaggaa>gaa	p.140_141EE>E	HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	140	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)		gtactcctcttcctcctcctcct	0.606														5	0.000998403	0.0008	0.0058	5008	,	,		14727	0.0		0.0	False		,,,				2504	0.0					ENST00000323061.5																			0				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7						c.(418-423)gaa>ga		nucleosome assembly protein 1-like 5																																				SO:0001651	inframe_deletion	266812				nucleosome assembly	nucleus	protein binding	g.chr4:89618484_89618486delTCC	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.420_422delGGA	4.37:g.89618493_89618495delTCC	ENSP00000320488:p.Glu143del					HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron	p.EE142del	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000181)	1	900_902	-			142			Glu-rich.			In_Frame_Del	DEL	ENST00000323061.5	37	c.420_422delGGA	CCDS3632.1																																																																																				0.606	NAP1L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253551.1	NM_153757		10	416						10	416	---	---	---	---
CXXC4	80319	broad.mit.edu	37	4	105412094	105412096	+	In_Frame_Del	DEL	GAG	GAG	-	rs146939312		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr4:105412094_105412096delGAG	ENST00000426831.1	-	1	371_373	c.357_359delCTC	c.(355-360)tcctcg>tcg	p.119_120SS>S	CXXC4_ENST00000394767.2_In_Frame_Del_p.288_289SS>S|AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000466963.1_Intron|AC093628.1_ENST00000606234.1_RNA			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	119	Poly-Ser.				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)	p.S120A(1)		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)		TGAGGAGGACGAGGAGGAGGAGG	0.606																																						ENST00000394767.2																			1	Substitution - Missense(1)	p.S120A(1)	large_intestine(1)	kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(862-867)tcg>tc		CXXC finger protein 4				3,4263		0,3,2130						2.7	1.0			75	7,8245		0,7,4119	no	coding	CXXC4	NM_025212.1		0,10,6249	A1A1,A1R,RR		0.0848,0.0703,0.0799				10,12508				SO:0001651	inframe_deletion	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.chr4:105412094_105412096delGAG		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.357_359delCTC	4.37:g.105412103_105412105delGAG	ENSP00000412267:p.Ser123del					AC093628.1_ENST00000606234.1_RNA|CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000426831.1_In_Frame_Del_p.SS121del	p.SS290del	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)	2	1314_1316	-			121						In_Frame_Del	DEL	ENST00000426831.1	37	c.864_866delCTC																																																																																					0.606	CXXC4-201	KNOWN	basic	protein_coding	protein_coding		NM_025212		8	551						8	551	---	---	---	---
RRH	10692	broad.mit.edu	37	4	110756541	110756541	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr4:110756541delT	ENST00000317735.4	+	3	351	c.317delT	c.(316-318)attfs	p.I106fs		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	106					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		GGATTGAATATTTTTTTTGGA	0.393																																						ENST00000317735.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12						c.(316-318)atfs		retinal pigment epithelium-derived rhodopsin homolog				67,4199		33,1,2099	139.0	134.0	136.0			5.7	1.0	4		136	92,8162		44,4,4079	no	frameshift	RRH	NM_006583.2		77,5,6178	A1A1,A1R,RR		1.1146,1.5706,1.27			110756541	159,12361	2203	4300	6503	SO:0001589	frameshift_variant	10692				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr4:110756541delT	AF012270	CCDS3687.1	4q25	2012-08-08			ENSG00000180245	ENSG00000180245		"""GPCR / Class A : Opsin receptors"""	10450	protein-coding gene	gene with protein product	"""peropsin"""	605224				9275222	Standard	NM_006583		Approved	peropsin	uc003hzv.3	O14718	OTTHUMG00000132045	ENST00000317735.4:c.317delT	4.37:g.110756541delT	ENSP00000314992:p.Ile106fs						p.I106fs	NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00109)	3	351	+		Hepatocellular(203;0.217)	106					A1A4V2|Q7RTS4	Frame_Shift_Del	DEL	ENST00000317735.4	37	c.317delT	CCDS3687.1																																																																																				0.393	RRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255066.1	NM_006583		7	463						7	463	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123165029	123165029	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr4:123165029delA	ENST00000264501.4	+	31	5136	c.4763delA	c.(4762-4764)gaafs	p.E1588fs	KIAA1109_ENST00000388738.3_Frame_Shift_Del_p.E1588fs|KIAA1109_ENST00000455637.1_Frame_Shift_Del_p.E1588fs			Q2LD37	K1109_HUMAN	KIAA1109	1588					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACTCCATTGGAAAAAAAACTC	0.383																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(4762-4764)gafs		KIAA1109							80.0	73.0	75.0					4																	123165029		1834	4079	5913	SO:0001589	frameshift_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123165029delA	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.4763delA	4.37:g.123165029delA	ENSP00000264501:p.Glu1588fs					KIAA1109_ENST00000455637.1_Frame_Shift_Del_p.E1588fs|KIAA1109_ENST00000388738.3_Frame_Shift_Del_p.E1588fs	p.E1588fs			Q2LD37	K1109_HUMAN			31	5136	+			1588					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Frame_Shift_Del	DEL	ENST00000264501.4	37	c.4763delA	CCDS43267.1																																																																																				0.383	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		7	402						7	402	---	---	---	---
SCLT1	132320	broad.mit.edu	37	4	129864163	129864163	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr4:129864163delT	ENST00000281142.5	-	17	2123	c.1620delA	c.(1618-1620)aaafs	p.K540fs	SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000439369.2_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	540					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTACTTTGGCTTTTTTTTGAG	0.353																																						ENST00000281142.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						c.(1618-1620)aafs		sodium channel and clathrin linker 1				19,4247		7,5,2121	118.0	121.0	120.0			5.3	1.0	4		118	26,8228		12,2,4113	no	frameshift	SCLT1	NM_144643.2		19,7,6234	A1A1,A1R,RR		0.315,0.4454,0.3594			129864163	45,12475	2203	4300	6503	SO:0001589	frameshift_variant	132320					centrosome		g.chr4:129864163delT	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1620delA	4.37:g.129864163delT	ENSP00000281142:p.Lys540fs					SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000503215.1_Intron	p.K540fs	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN			17	2123	-			540					A4QN04|Q0VAH2|Q6P2M4	Frame_Shift_Del	DEL	ENST00000281142.5	37	c.1620delA	CCDS3740.1																																																																																				0.353	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		7	574						7	574	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-	rs150581210		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	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		7	438						7	438	---	---	---	---
HMGB2	3148	broad.mit.edu	37	4	174253277	174253279	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr4:174253277_174253279delTCC	ENST00000296503.5	-	5	1455_1457	c.582_584delGGA	c.(580-585)gaggaa>gaa	p.194_195EE>E	HMGB2_ENST00000438704.2_In_Frame_Del_p.194_195EE>E|RP11-798M19.3_ENST00000507803.1_RNA|HMGB2_ENST00000446922.2_In_Frame_Del_p.194_195EE>E			P26583	HMGB2_HUMAN	high mobility group box 2	194	Asp/Glu-rich (acidic).				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)	p.E194E(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		atcttcttcttcctcctcctcct	0.468																																						ENST00000296503.5																			1	Substitution - coding silent(1)	p.E194E(1)	endometrium(1)	endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14						c.(580-585)gaa>ga		high mobility group box 2			,,	25,4237		10,5,2116					,,	-1.4	1.0			279	85,8161		40,5,4078	no	coding,coding,coding	HMGB2	NM_002129.3,NM_001130689.1,NM_001130688.1	,,	50,10,6194	A1A1,A1R,RR		1.0308,0.5866,0.8794	,,	,,		110,12398				SO:0001651	inframe_deletion	3148				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	g.chr4:174253277_174253279delTCC		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.582_584delGGA	4.37:g.174253286_174253288delTCC	ENSP00000296503:p.Glu197del					HMGB2_ENST00000438704.2_In_Frame_Del_p.EE196del|HMGB2_ENST00000446922.2_In_Frame_Del_p.EE196del	p.EE196del			P26583	HMGB2_HUMAN		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	5	1455_1457	-		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	196			Asp/Glu-rich (acidic).		B2R4K8|D3DP37|Q5U072	In_Frame_Del	DEL	ENST00000296503.5	37	c.582_584delGGA	CCDS3816.1																																																																																				0.468	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	NM_001130688		7	505						7	505	---	---	---	---
PRIMPOL	201973	broad.mit.edu	37	4	185615905	185615914	+	Frame_Shift_Del	DEL	AACTAATTAT	AACTAATTAT	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr4:185615905_185615914delAACTAATTAT	ENST00000314970.6	+	14	2088_2097	c.1655_1664delAACTAATTAT	c.(1654-1665)gaactaattatafs	p.ELII552fs	PRIMPOL_ENST00000510864.1_3'UTR|PRIMPOL_ENST00000503752.1_Frame_Shift_Del_p.ELII552fs|PRIMPOL_ENST00000515774.1_Frame_Shift_Del_p.ELII423fs|MLF1IP_ENST00000281453.5_3'UTR|PRIMPOL_ENST00000512834.1_Frame_Shift_Del_p.ELII551fs	NM_152683.2	NP_689896	Q96LW4	PRIPO_HUMAN	primase and polymerase (DNA-directed)	552	Interaction with RPA1.				mitochondrial DNA replication (GO:0006264)|replication fork processing (GO:0031297)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA primase activity (GO:0003896)|DNA-directed DNA polymerase activity (GO:0003887)|manganese ion binding (GO:0030145)										ATTCCTGATGAACTAATTATAGAAGTATTA	0.338																																						ENST00000314970.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16						c.(1654-1665)gafs																																						SO:0001589	frameshift_variant	0				DNA replication, synthesis of RNA primer		DNA primase activity	g.chr4:185615905_185615914delAACTAATTAT	AK057729	CCDS3837.1, CCDS75211.1, CCDS75212.1	4q35.1	2013-09-27	2013-09-27	2013-09-27	ENSG00000164306	ENSG00000164306			26575	protein-coding gene	gene with protein product		615421	"""coiled-coil domain containing 111"""	CCDC111		12477932	Standard	XM_005262814		Approved	FLJ33167	uc003iwk.2	Q96LW4	OTTHUMG00000160495	ENST00000314970.6:c.1655_1664delAACTAATTAT	4.37:g.185615905_185615914delAACTAATTAT	ENSP00000313816:p.Glu552fs					CCDC111_ENST00000515774.1_Frame_Shift_Del_p.ELII423fs|CCDC111_ENST00000510864.1_3'UTR|CCDC111_ENST00000503752.1_Frame_Shift_Del_p.ELII552fs|CCDC111_ENST00000512834.1_Frame_Shift_Del_p.ELII551fs|MLF1IP_ENST00000281453.5_3'UTR	p.ELII552fs	NM_152683.2	NP_689896.1	Q96LW4	CC111_HUMAN		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)	14	2088_2097	+		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)	552					D3DP55|D6RDM1|Q5HYJ9	Frame_Shift_Del	DEL	ENST00000314970.6	37	c.1655_1664delAACTAATTAT	CCDS3837.1																																																																																				0.338	PRIMPOL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360827.1	NM_152683		56	250						56	250	---	---	---	---
FRG1	2483	broad.mit.edu	37	4	190878555	190878556	+	Frame_Shift_Ins	INS	-	-	A	rs376893532		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr4:190878555_190878556insA	ENST00000226798.4	+	6	657_658	c.435_436insA	c.(436-438)aaafs	p.K146fs	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	146					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TCACTTAGGGGAAAATGGCTTT	0.351																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(433-438)ggaaatfs		FSHD region gene 1																																				SO:0001589	frameshift_variant	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190878555_190878556insA	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.439dupA	4.37:g.190878559_190878559dupA	ENSP00000226798:p.Lys146fs					FRG1_ENST00000514482.1_3'UTR	p.N146fs	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	6	657_658	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	146					A8K775	Frame_Shift_Ins	INS	ENST00000226798.4	37	c.435_436insA	CCDS34121.1																																																																																				0.351	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		7	133						7	133	---	---	---	---
ZFR	51663	broad.mit.edu	37	5	32419951	32419953	+	In_Frame_Del	DEL	GGT	GGT	-	rs376016449		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr5:32419951_32419953delGGT	ENST00000265069.8	-	3	495_497	c.393_395delACC	c.(391-396)ccaccc>ccc	p.131_132PP>P		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	131	Ala-rich.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AGTAGCTGGGGGTGGTGGTGGTG	0.483																																						ENST00000265069.8																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(391-396)ccc>cc		zinc finger RNA binding protein																																				SO:0001651	inframe_deletion	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32419951_32419953delGGT	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.393_395delACC	5.37:g.32419960_32419962delGGT	ENSP00000265069:p.Pro133del						p.PP131del	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	3	495_497	-			131			Ala-rich.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	In_Frame_Del	DEL	ENST00000265069.8	37	c.393_395delACC	CCDS34139.1																																																																																				0.483	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			7	995						7	995	---	---	---	---
C6	729	broad.mit.edu	37	5	41160299	41160300	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr5:41160299_41160300delAC	ENST00000263413.3	-	11	1892_1893	c.1628_1629delGT	c.(1627-1629)tgtfs	p.C543fs	C6_ENST00000337836.5_Frame_Shift_Del_p.C543fs|C6_ENST00000475349.1_5'Flank	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	543	EGF-like.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGCCACTCTGACACACACACAG	0.475																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1627-1629)tfs		complement component 6																																				SO:0001589	frameshift_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41160299_41160300delAC	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1628_1629delGT	5.37:g.41160307_41160308delAC	ENSP00000263413:p.Cys543fs					C6_ENST00000337836.5_Frame_Shift_Del_p.C543fs	p.C543fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			11	1892_1893	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	543			EGF-like.			Frame_Shift_Del	DEL	ENST00000263413.3	37	c.1628_1629delGT	CCDS3936.1																																																																																				0.475	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			7	626						7	626	---	---	---	---
ZNF318	24149	broad.mit.edu	37	6	43323502	43323502	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr6:43323502delT	ENST00000361428.2	-	4	1647	c.1570delA	c.(1570-1572)aggfs	p.R526fs	ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	526					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTACGTCGCCTTTTTTCCTGT	0.493																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(1570-1572)ggfs		zinc finger protein 318							215.0	222.0	219.0					6																	43323502		2203	4300	6503	SO:0001589	frameshift_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43323502delT	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1570delA	6.37:g.43323502delT	ENSP00000354964:p.Arg526fs					ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs	p.R526fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	1647	-			526					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Frame_Shift_Del	DEL	ENST00000361428.2	37	c.1570delA	CCDS4895.2																																																																																				0.493	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		10	1682						10	1682	---	---	---	---
ICK	22858	broad.mit.edu	37	6	52883129	52883129	+	Splice_Site	DEL	T	T	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr6:52883129delT	ENST00000350082.5	-	7	1008	c.662delA	c.(661-663)aag>ag	p.K221fs	ICK_ENST00000356971.3_Splice_Site_p.K221fs	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TATCATTACCTTTTTTGGTGT	0.502																																						ENST00000356971.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31						c.e8+1		intestinal cell (MAK-like) kinase							184.0	185.0	184.0					6																	52883129		2203	4300	6503	SO:0001630	splice_region_variant	22858				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	g.chr6:52883129delT	AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.663+1A>-	6.37:g.52883129delT						ICK_ENST00000350082.5_Splice_Site_p.K221_splice	p.K221_splice	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN			8	1151	-	Lung NSC(77;0.103)		221			Protein kinase.		A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Splice_Site	DEL	ENST00000350082.5	37	c.663_splice	CCDS4949.1																																																																																				0.502	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040952.1	NM_016513	Frame_Shift_Del	7	706						7	706	---	---	---	---
MTHFD1L	25902	broad.mit.edu	37	6	151358163	151358164	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr6:151358163_151358164insA	ENST00000367321.3	+	26	3031_3032	c.2757_2758insA	c.(2758-2760)aaafs	p.K920fs	AL133260.1_ENST00000408542.1_RNA	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	920	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)	p.L914fs*14(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		ACCAACCTGACAAAAAAGGTGT	0.48																																						ENST00000367321.3																			1	Deletion - Frameshift(1)	p.L914fs*14(1)	ovary(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(2755-2760)gaaaaafs		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like																																				SO:0001589	frameshift_variant	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151358163_151358164insA	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2763dupA	6.37:g.151358169_151358169dupA	ENSP00000356290:p.Lys920fs						p.EK919fs	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	26	3031_3032	+		Ovarian(120;0.128)	919			Formyltetrahydrofolate synthetase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Frame_Shift_Ins	INS	ENST00000367321.3	37	c.2757_2758insA	CCDS5228.1																																																																																				0.480	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		9	454						9	454	---	---	---	---
MPP6	51678	broad.mit.edu	37	7	24705666	24705666	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr7:24705666delA	ENST00000222644.5	+	8	1160	c.910delA	c.(910-912)aaafs	p.K308fs	MPP6_ENST00000409761.1_Frame_Shift_Del_p.K196fs|MPP6_ENST00000396475.2_Frame_Shift_Del_p.K308fs			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			9	785						9	785	---	---	---	---
TRGC1	6966	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-	rs531015144|rs539372318	byFrequency	TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											TCAATTGTTCGTGTGTGTGTGT	0.356														5	0.000998403	0.0023	0.0	5008	,	,		19637	0.002		0.0	False		,,,				2504	0.0					ENST00000443402.2																			0																,	19,1,3534		0,0,19,0,1,1757					,	-0.1	0.0			199	9,6,7813		1,0,7,0,6,3900	no	intron,intron	TARP	NM_001003806.1,NM_001003799.1	,	1,0,26,0,7,5657	A1A1,A1A2,A1R,A2A2,A2R,RR		0.1916,0.5627,0.3075	,	,		28,7,11347						0							g.chr7:38301855_38301856delGT	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38301865_38301866delGT								NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1					0	330	-									RNA	DEL	ENST00000443402.2	37																																																																																						0.356	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		9	515						9	515	---	---	---	---
POU6F2	11281	broad.mit.edu	37	7	39379288	39379290	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr7:39379288_39379290delCAG	ENST00000403058.1	+	6	713_715	c.559_561delCAG	c.(559-561)cagdel	p.Q196del	POU6F2_ENST00000518318.2_In_Frame_Del_p.Q196del|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	196	Gln-rich.			Q -> QQ (in Ref. 1; AAB49727/AAB49728). {ECO:0000305}.	central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						gctccagctccagcagcagcagc	0.616																																						ENST00000518318.2																			0				NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(559-561)del		POU class 6 homeobox 2																																				SO:0001651	inframe_deletion	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39379288_39379290delCAG	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.559_561delCAG	7.37:g.39379297_39379299delCAG	ENSP00000384004:p.Gln196del					POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del|POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del	p.Q196del			P78424	PO6F2_HUMAN			5	601_603	+			196	Q -> QQ (in Ref. 1; AAB49727/AAB49728).		Gln-rich.		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	In_Frame_Del	DEL	ENST00000403058.1	37	c.559_561delCAG	CCDS34620.2																																																																																				0.616	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		7	129						7	129	---	---	---	---
RP5-905H7.3	0	broad.mit.edu	37	7	62701951	62701952	+	RNA	INS	-	-	A			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr7:62701951_62701952insA	ENST00000451381.1	-	0	55																											CTTTTTTGGAGAAAAAATATAT	0.337																																						ENST00000451381.1																			0																																																			0							g.chr7:62701951_62701952insA																													7.37:g.62701957_62701957dupA														0	55	-									RNA	INS	ENST00000451381.1	37																																																																																						0.337	RP5-905H7.3-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000343675.1			7	12						7	12	---	---	---	---
INTS4L2	644619	broad.mit.edu	37	7	65150814	65150815	+	RNA	INS	-	-	C	rs376935907		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr7:65150814_65150815insC	ENST00000430126.2	+	0	757							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		TCTTCATCCCTCACCCCCCCCC	0.46																																						ENST00000430126.2																			0																																																			0							g.chr7:65150814_65150815insC	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65150815_65150815dupC														0	757	+									RNA	INS	ENST00000430126.2	37																																																																																						0.460	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		11	53						11	53	---	---	---	---
PMS2P4	5382	broad.mit.edu	37	7	66762432	66762432	+	RNA	DEL	G	G	-	rs530279026|rs201332789|rs370991247	byFrequency	TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr7:66762432delG	ENST00000414507.1	-	0	184				Y_RNA_ENST00000364695.1_RNA					postmeiotic segregation increased 2 pseudogene 4																		gtctcaaaaagaaaaaaaaaa	0.408																																						ENST00000414507.1																			0																																																			0							g.chr7:66762432delG	D38438		7q11.22	2010-10-26	2010-10-26	2010-10-26	ENSG00000067601	ENSG00000067601			9129	pseudogene	pseudogene	"""PMS2 pseudogene"""		"""postmeiotic segregation increased 2-like 4"", ""postmeiotic segregation increased 2-like 4 pseudogene"""	PMS2L4		8586419	Standard	NR_046297		Approved	PMS6	uc003tvo.3		OTTHUMG00000156923		7.37:g.66762432delG														0	184	-									RNA	DEL	ENST00000414507.1	37																																																																																						0.408	PMS2P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346632.1	NR_022007		7	58						7	58	---	---	---	---
TMEM60	85025	broad.mit.edu	37	7	77423460	77423460	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr7:77423460delT	ENST00000257663.3	-	2	607	c.231delA	c.(229-231)aaafs	p.K77fs		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	77						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)	4						GGTACCAGGCTTTTTTTTTAA	0.408																																						ENST00000257663.3																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(229-231)aafs		transmembrane protein 60							142.0	141.0	141.0					7																	77423460		2203	4300	6503	SO:0001589	frameshift_variant	85025					integral to membrane		g.chr7:77423460delT	AF260336	CCDS5593.1	7q11.23	2005-07-25	2005-07-25	2005-07-25	ENSG00000135211	ENSG00000135211			21754	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 35"""	C7orf35			Standard	NM_032936		Approved	DC32	uc003ugn.3	Q9H2L4	OTTHUMG00000130689	ENST00000257663.3:c.231delA	7.37:g.77423460delT	ENSP00000257663:p.Lys77fs						p.K77fs	NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN			2	607	-			77					A4D1C3|Q86UM0	Frame_Shift_Del	DEL	ENST00000257663.3	37	c.231delA	CCDS5593.1																																																																																				0.408	TMEM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253185.2	NM_032936		12	453						12	453	---	---	---	---
ABCB4	5244	broad.mit.edu	37	7	87074281	87074282	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr7:87074281_87074282insA	ENST00000265723.4	-	10	1126_1127	c.1015_1016insT	c.(1015-1017)tcafs	p.S339fs	ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.S339fs|ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.S339fs|ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.S339fs|ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.S339fs	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	339	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.S339fs*3(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	AATTAGGATTGAAAAAAAAACC	0.347																																						ENST00000265723.4																			1	Deletion - Frameshift(1)	p.S339fs*3(1)	lung(1)	breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	GRCh37	CD034702|CI034710	ABCB4	D|I		c.(1015-1017)aatfs		ATP-binding cassette, sub-family B (MDR/TAP), member 4																																				SO:0001589	frameshift_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87074281_87074282insA	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1016dupT	7.37:g.87074290_87074290dupA	ENSP00000265723:p.Ser339fs					ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.N339fs	p.N339fs	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			10	1126_1127	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		339			ABC transmembrane type-1 1.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Frame_Shift_Ins	INS	ENST00000265723.4	37	c.1015_1016insT	CCDS5606.1																																																																																				0.347	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		7	188						7	188	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91671392	91671393	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr7:91671392_91671393delAG	ENST00000359028.2	+	20	5211_5212	c.4986_4987delAG	c.(4984-4989)tcagagfs	p.E1663fs	AKAP9_ENST00000356239.3_Frame_Shift_Del_p.E1651fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.E1663fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1663					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACCTGGTTTCAGAGAGAGAGAG	0.411			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(4984-4989)tcagfs		A kinase (PRKA) anchor protein 9																																				SO:0001589	frameshift_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91671392_91671393delAG	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.4986_4987delAG	7.37:g.91671402_91671403delAG	ENSP00000351922:p.Glu1663fs					AKAP9_ENST00000358100.2_Frame_Shift_Del_p.SE1662fs|AKAP9_ENST00000356239.3_Frame_Shift_Del_p.SE1650fs	p.SE1662fs			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		20	5211_5212	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1662					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Del	DEL	ENST00000359028.2	37	c.4986_4987delAG																																																																																					0.411	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		7	476						7	476	---	---	---	---
GIGYF1	64599	broad.mit.edu	37	7	100281686	100281688	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr7:100281686_100281688delGCT	ENST00000275732.5	-	15	3032_3034	c.1823_1825delAGC	c.(1822-1827)cagctc>ctc	p.Q608del	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	608	Gln-rich.|Poly-Gln.				insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					AATGCCGTGAGCTGCTGCTGCTG	0.69																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1822-1827)ctc>c		GRB10 interacting GYF protein 1																																				SO:0001651	inframe_deletion	64599							g.chr7:100281686_100281688delGCT	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.1823_1825delAGC	7.37:g.100281695_100281697delGCT	ENSP00000275732:p.Gln608del						p.QL608del	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			15	3032_3034	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		608			Gln-rich.|Poly-Gln.		Q6Y7W7|Q8WZ38	In_Frame_Del	DEL	ENST00000275732.5	37	c.1823_1825delAGC	CCDS34708.1																																																																																				0.690	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		8	127						8	127	---	---	---	---
TRBV7-8	28590	broad.mit.edu	37	7	142099805	142099806	+	RNA	DEL	AC	AC	-	rs368401262		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr7:142099805_142099806delAC	ENST00000390359.3	-	0	88									T cell receptor beta variable 7-8																		TAGTCATcatacacacacacac	0.441																																						ENST00000390359.3																			0																	1150,504,192,73,32,19,1642		93,271,69,34,0,6,584,12,24,19,0,2,164,6,1,0,1,85,0,0,0,19,5,0,22,2,6,381						-3.9	0.0		dbSNP_134	72	454,34,630,2,192,56,6534		14,14,43,0,0,6,363,1,6,0,0,0,12,12,1,0,4,552,0,0,0,1,3,0,186,1,44,2688	no	intergenic				107,285,112,34,0,12,947,13,30,19,0,2,176,18,2,0,5,637,0,0,0,20,8,0,208,3,50,3069	A1A1,A1A2,A1A3,A1A4,A1A5,A1A6,A1R,A2A2,A2A3,A2A4,A2A5,A2A6,A2R,A3A3,A3A4,A3A5,A3A6,A3R,A4A4,A4A5,A4A6,A4R,A5A5,A5A6,A5R,A6A6,A6R,RR		17.3121,54.5404,28.9908				1604,538,822,75,224,75,8176						0							g.chr7:142099805_142099806delAC	M11953		7q34	2012-02-07			ENSG00000229200			"""T cell receptors / TRB locus"""	12242	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV78, TCRBV6S2A1N1T, TCRBV7S8			OTTHUMG00000158875		7.37:g.142099815_142099816delAC														0	88	-									RNA	DEL	ENST00000390359.3	37																																																																																						0.441	TRBV7-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352483.1	NG_001333		18	265						18	265	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142481743	142481745	+	RNA	DEL	CTA	CTA	-	rs587750077|rs376315825	byFrequency	TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	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		9	427						9	427	---	---	---	---
FAM66B	100128890	broad.mit.edu	37	8	7191540	7191541	+	lincRNA	DEL	CA	CA	-	rs376658666		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	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		7	80						7	80	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48746799	48746799	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr8:48746799delT	ENST00000314191.2	-	60	8163	c.8107delA	c.(8107-8109)aggfs	p.R2703fs	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2704	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AGGCCCAGCCTTTTTTTCCCA	0.498								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(8107-8109)ggfs	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							248.0	251.0	250.0					8																	48746799		1981	4176	6157	SO:0001589	frameshift_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48746799delT		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8107delA	8.37:g.48746799delT	ENSP00000313420:p.Arg2703fs					PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs	p.R2703fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			60	8163	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2704			KIP-binding.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Del	DEL	ENST00000314191.2	37	c.8107delA																																																																																					0.498	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		7	1091						7	1091	---	---	---	---
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA	-	rs563415390|rs148509143|rs374281647	byFrequency	TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	ENST00000308860.6	+	12	1301_1311	c.1257_1267delGGGGGTGCAAGGTGA	c.(1255-1269)ctgggggtgcaaggt>ctgt	p.GVQG420del	MIR939_ENST00000401314.1_RNA|CPSF1_ENST00000531727.1_5'Flank	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	420						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)	p.?(2)		endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.73														3140	0.626997	0.8109	0.562	5008	,	,		8769	0.6577		0.4205	False		,,,				2504	0.6053					ENST00000308860.6																			2	Unknown(2)	p.?(2)	prostate(2)	endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8						c.e12+1		aarF domain containing kinase 5				1836,894		805,226,334						4.5	0.7		dbSNP_120	4	2015,4403		639,737,1833	no	coding-near-splice	ADCK5	NM_174922.3		1444,963,2167	A1A1,A1R,RR		31.3961,32.7473,42.0966				3851,5297				SO:0001630	splice_region_variant	203054					integral to membrane	protein serine/threonine kinase activity	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.1267+1GGGGGTGCAAGGTGA>-	8.37:g.145617535_145617549delGGGGGTGCAAGGTGA							p.L419_splice	NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		12	1301_1311	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		419			Protein kinase.		B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Splice_Site	DEL	ENST00000308860.6	37	c.1267_splice	CCDS34965.1																																																																																				0.730	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382556.2	NM_174922	In_Frame_Del	7	8						7	8	---	---	---	---
SMARCA2	6595	broad.mit.edu	37	9	2039777	2039779	+	In_Frame_Del	DEL	CAG	CAG	-	rs376509101|rs62639301	byFrequency	TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr9:2039777_2039779delCAG	ENST00000382203.1	+	4	876_878	c.667_669delCAG	c.(667-669)cagdel	p.Q238del	RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del|SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	238	Poly-Gln.			Missing (in Ref. 1; CAA51407). {ECO:0000305}.	aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		gcagcagcaacagcagcagcagc	0.635																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(667-669)del		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2																																				SO:0001651	inframe_deletion	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2039777_2039779delCAG	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.667_669delCAG	9.37:g.2039786_2039788delCAG	ENSP00000371638:p.Gln238del					SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del|SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del	p.Q238del			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	4	876_878	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	238	Missing (in Ref. 1; CAA51407).		Poly-Gln.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	In_Frame_Del	DEL	ENST00000382203.1	37	c.667_669delCAG	CCDS34977.1																																																																																				0.635	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		8	91						8	91	---	---	---	---
C9orf131	138724	broad.mit.edu	37	9	35043650	35043650	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr9:35043650delC	ENST00000312292.5	+	2	1071	c.1024delC	c.(1024-1026)cccfs	p.P343fs	C9orf131_ENST00000354479.5_Frame_Shift_Del_p.P270fs|C9orf131_ENST00000421362.2_Frame_Shift_Del_p.P295fs|FLJ00273_ENST00000595331.1_5'Flank	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	343										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TCCGATGCCACCCCCCTGCCA	0.527																																						ENST00000312292.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(1024-1026)ccfs		chromosome 9 open reading frame 131							183.0	209.0	200.0					9																	35043650		2203	4300	6503	SO:0001589	frameshift_variant	138724							g.chr9:35043650delC	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1024delC	9.37:g.35043650delC	ENSP00000308279:p.Pro343fs					C9orf131_ENST00000354479.5_Frame_Shift_Del_p.P270fs|C9orf131_ENST00000421362.2_Frame_Shift_Del_p.P295fs	p.P343fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	1071	+	all_epithelial(49;0.22)		343					A6NLE6|E9PB26|Q86XC6|Q9UF74	Frame_Shift_Del	DEL	ENST00000312292.5	37	c.1024delC	CCDS6572.2																																																																																				0.527	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		9	1852						9	1852	---	---	---	---
CTSV	1515	broad.mit.edu	37	9	99799590	99799590	+	Frame_Shift_Del	DEL	G	G	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr9:99799590delG	ENST00000259470.5	-	4	589	c.340delC	c.(340-342)cttfs	p.L114fs	CTSV_ENST00000538255.1_Frame_Shift_Del_p.L114fs|CTSV_ENST00000479932.1_5'UTR	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V	114					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic cell death (GO:0048102)|catagen (GO:0042637)|cellular response to starvation (GO:0009267)|decidualization (GO:0046697)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|multicellular organismal aging (GO:0010259)|negative regulation of keratinocyte proliferation (GO:0010839)|nerve development (GO:0021675)|protein autoprocessing (GO:0016540)|regulation of actin cytoskeleton reorganization (GO:2000249)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to gonadotropin (GO:0034698)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	aminopeptidase activity (GO:0004177)|cysteine-type carboxypeptidase activity (GO:0016807)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptide binding (GO:0042277)										GATTTGGGAAGATCAAGAAAC	0.478																																						ENST00000259470.5																			0											c.(340-342)ttfs		cathepsin V							80.0	77.0	78.0					9																	99799590		2203	4300	6503	SO:0001589	frameshift_variant	1515							g.chr9:99799590delG	Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943		"""Cathepsins"""	2538	protein-coding gene	gene with protein product		603308	"""cathepsin L2"""	CTSL2		9563472, 10029531	Standard	NM_001201575		Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.340delC	9.37:g.99799590delG	ENSP00000259470:p.Leu114fs					CTSV_ENST00000479932.1_5'UTR|CTSV_ENST00000538255.1_Frame_Shift_Del_p.L114fs	p.L114fs	NM_001333.3	NP_001324.2					4	589	-								O60233|Q2TB86|Q5T1U0	Frame_Shift_Del	DEL	ENST00000259470.5	37	c.340delC	CCDS6723.1																																																																																				0.478	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053301.2	NM_001333		127	268						127	268	---	---	---	---
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs371516340|rs565664344|rs71369530	byFrequency	TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	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			10	64						10	64	---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109689690	109689690	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr9:109689690delC	ENST00000277225.5	+	3	3786	c.3497delC	c.(3496-3498)tccfs	p.S1166fs	ZNF462_ENST00000457913.1_Frame_Shift_Del_p.S1166fs|ZNF462_ENST00000441147.2_Frame_Shift_Del_p.S11fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1166					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CCCCAAGGCTCCCCCCGGCCA	0.542																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(3496-3498)tcfs		zinc finger protein 462							73.0	85.0	81.0					9																	109689690		2203	4300	6503	SO:0001589	frameshift_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109689690delC	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.3497delC	9.37:g.109689690delC	ENSP00000277225:p.Ser1166fs					ZNF462_ENST00000441147.2_Frame_Shift_Del_p.S11fs|ZNF462_ENST00000457913.1_Frame_Shift_Del_p.S1166fs	p.S1166fs			Q96JM2	ZN462_HUMAN			3	3786	+			1166					Q5T0T4|Q8N408	Frame_Shift_Del	DEL	ENST00000277225.5	37	c.3497delC	CCDS35096.1																																																																																				0.542	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		8	883						8	883	---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137693829	137693829	+	Frame_Shift_Del	DEL	C	C	-	rs377265020		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr9:137693829delC	ENST00000371817.3	+	38	3396	c.2982delC	c.(2980-2982)ggcfs	p.G994fs		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	994	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.G997fs*17(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCCCTCCAGGCCCCCCCGGCG	0.657																																						ENST00000371817.3																			1	Insertion - Frameshift(1)	p.G997fs*17(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(2980-2982)ggfs		collagen, type V, alpha 1							67.0	67.0	67.0					9																	137693829		2203	4299	6502	SO:0001589	frameshift_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137693829delC	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2982delC	9.37:g.137693829delC	ENSP00000360882:p.Gly994fs						p.G994fs	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	38	3396	+		Myeloproliferative disorder(178;0.0341)	994			Triple-helical region.		Q15094|Q5SUX4	Frame_Shift_Del	DEL	ENST00000371817.3	37	c.2982delC	CCDS6982.1																																																																																				0.657	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		7	505						7	505	---	---	---	---
EXD3	54932	broad.mit.edu	37	9	140267462	140267462	+	Frame_Shift_Del	DEL	G	G	-	rs200027265		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr9:140267462delG	ENST00000340951.4	-	5	552	c.357delC	c.(355-357)cccfs	p.P119fs	EXD3_ENST00000479452.1_Frame_Shift_Del_p.P119fs|EXD3_ENST00000342129.4_5'UTR|EXD3_ENST00000475006.1_5'UTR	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0	Pro-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CCGCAAGGCTGGGGGGGCTCT	0.647																																						ENST00000340951.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						c.(355-357)ccfs		exonuclease 3'-5' domain containing 3																																				SO:0001589	frameshift_variant	54932				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr9:140267462delG		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.357delC	9.37:g.140267462delG	ENSP00000340474:p.Pro119fs					EXD3_ENST00000479452.1_Frame_Shift_Del_p.P119fs|EXD3_ENST00000475006.1_5'UTR|EXD3_ENST00000342129.4_5'UTR	p.P119fs	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN			5	552	-			119					Q6P1M1|Q8IXT8	Frame_Shift_Del	DEL	ENST00000340951.4	37	c.357delC	CCDS48066.1																																																																																				0.647	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		7	615						7	615	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	17113554	17113554	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr10:17113554delA	ENST00000377833.4	-	19	2561	c.2496delT	c.(2494-2496)tttfs	p.F832fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	832	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACACGTTAGGAAAAAAAGGCG	0.413																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(2494-2496)ttfs		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						72.0	73.0	73.0					10																	17113554		2203	4300	6503	SO:0001589	frameshift_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17113554delA	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.2496delT	10.37:g.17113554delA	ENSP00000367064:p.Phe832fs						p.F832fs	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			19	2561	-			832			CUB 4.		B0YIZ4|Q5VTA6|Q96RU9	Frame_Shift_Del	DEL	ENST00000377833.4	37	c.2496delT	CCDS7113.1																																																																																				0.413	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		8	256						8	256	---	---	---	---
KIAA1462	57608	broad.mit.edu	37	10	30316501	30316503	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr10:30316501_30316503delCTG	ENST00000375377.1	-	3	2675_2677	c.2574_2576delCAG	c.(2572-2577)agcagt>agt	p.858_859SS>S		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	858	Ser-rich.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTCTCCTCActgctgctgctgc	0.571																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(2572-2577)agt>ag		KIAA1462				16,121,147,3686		2,1,1,10,9,1,101,3,139,1718						-7.0	0.0			46	4,50,242,7744		0,0,1,3,0,0,50,8,225,3733	no	codingComplex	KIAA1462	NM_020848.2		2,1,2,13,9,1,151,11,364,5451	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		3.6816,7.1537,4.8293				20,171,389,11430				SO:0001651	inframe_deletion	57608							g.chr10:30316501_30316503delCTG	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2574_2576delCAG	10.37:g.30316510_30316512delCTG	ENSP00000364526:p.Ser859del						p.SS858del	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	2675_2677	-			858			Ser-rich.		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	In_Frame_Del	DEL	ENST00000375377.1	37	c.2574_2576delCAG	CCDS41500.1																																																																																				0.571	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		17	257						17	257	---	---	---	---
JMJD1C	221037	broad.mit.edu	37	10	64952699	64952699	+	Splice_Site	DEL	T	T	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr10:64952699delT	ENST00000399262.2	-	16	6293	c.6075delA	c.(6073-6075)aaa>aa	p.K2025fs	JMJD1C_ENST00000542921.1_Splice_Site_p.K1843fs|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000402544.1_Splice_Site_p.K1788fs	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2025					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TATGTTTACCTTTTTTTTCCT	0.373																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.e16+1		jumonji domain containing 1C							153.0	141.0	145.0					10																	64952699		1873	4104	5977	SO:0001630	splice_region_variant	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64952699delT	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.6076+1A>-	10.37:g.64952699delT						JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Splice_Site_p.K1843_splice|JMJD1C_ENST00000402544.1_Splice_Site_p.K1788_splice	p.K2025_splice	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			16	6293	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		2025					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Splice_Site	DEL	ENST00000399262.2	37	c.6076_splice	CCDS41532.1																																																																																				0.373	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241	Frame_Shift_Del	8	330						8	330	---	---	---	---
TNKS2	80351	broad.mit.edu	37	10	93601945	93601946	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	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		9	220						9	220	---	---	---	---
AP2A2	161	broad.mit.edu	37	11	970195	970195	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr11:970195delA	ENST00000448903.2	+	3	304	c.163delA	c.(163-165)aaafs	p.K57fs	AP2A2_ENST00000332231.5_Frame_Shift_Del_p.K57fs|AP2A2_ENST00000534328.1_Frame_Shift_Del_p.K57fs	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	57	Lipid-binding.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)	p.K57fs*24(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGGCTATAGTAAAAAAAAGTA	0.488																																						ENST00000448903.2																			1	Deletion - Frameshift(1)	p.K57fs*24(1)	large_intestine(1)	breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(163-165)aafs		adaptor-related protein complex 2, alpha 2 subunit							132.0	134.0	134.0					11																	970195		1937	4154	6091	SO:0001589	frameshift_variant	161				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	g.chr11:970195delA	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"""alpha-adaptin C; Huntingtin interacting protein J"", ""adaptin, alpha B"", ""clathrin-associated/assembly/adaptor protein, large, alpha 2"""	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.163delA	11.37:g.970195delA	ENSP00000413234:p.Lys57fs					AP2A2_ENST00000332231.5_Frame_Shift_Del_p.K57fs|AP2A2_ENST00000534328.1_Frame_Shift_Del_p.K57fs	p.K57fs	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)	3	304	+		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	57			Lipid-binding.		O75403|Q53ET1|Q96SI8	Frame_Shift_Del	DEL	ENST00000448903.2	37	c.163delA	CCDS44512.1																																																																																				0.488	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		7	448						7	448	---	---	---	---
NUP98	4928	broad.mit.edu	37	11	3720389	3720389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr11:3720389delT	ENST00000324932.7	-	25	4352	c.3932delA	c.(3931-3933)aacfs	p.N1311fs	NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000488828.1_5'Flank|NUP98_ENST00000359171.4_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_ENST00000355260.3_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000359171.4_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	794						8	794	---	---	---	---
TRIM51HP	440041	broad.mit.edu	37	11	55065032	55065032	+	RNA	DEL	T	T	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr11:55065032delT	ENST00000526016.1	-	0	393					NR_038174.2				tripartite motif-containing 51H, pseudogene																		AAAGACTGCATTTTTTTTTAG	0.398																																						ENST00000526016.1																			0																																																			0							g.chr11:55065032delT			11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55065032delT								NR_038174.2						0	393	-									RNA	DEL	ENST00000526016.1	37																																																																																						0.398	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000391438.1			7	199						7	199	---	---	---	---
MEN1	4221	broad.mit.edu	37	11	64573203	64573205	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr11:64573203_64573205delCTC	ENST00000337652.1	-	8	1605_1607	c.1102_1104delGAG	c.(1102-1104)gagdel	p.E368del	MEN1_ENST00000315422.4_In_Frame_Del_p.E363del|MEN1_ENST00000377321.1_In_Frame_Del_p.E328del|MEN1_ENST00000394374.2_In_Frame_Del_p.E368del|MEN1_ENST00000377326.3_In_Frame_Del_p.E363del|MEN1_ENST00000443283.1_In_Frame_Del_p.E368del|MAP4K2_ENST00000377350.3_5'Flank|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000377316.2_In_Frame_Del_p.E363del|MEN1_ENST00000312049.6_In_Frame_Del_p.E363del|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000394376.1_In_Frame_Del_p.E368del|MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000377313.1_In_Frame_Del_p.E368del	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	368	Interaction with FANCD2.		Missing (in MEN1). {ECO:0000269|PubMed:12050235, ECO:0000269|PubMed:9103196}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.K362fs*2(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CTTCAAAGAACTCCTTGTAGATC	0.601			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"""D, Mis, N, F, S"""	multiple endocrine neoplasia type 1 gene			E		"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""	"""parathyroid tumors, Pancreatic neuroendocrine tumors"""		1	Deletion - Frameshift(1)	p.K362fs*2(1)	parathyroid(1)	NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337	GRCh37	CD972313	MEN1	D		c.(1102-1104)del		multiple endocrine neoplasia I																																				SO:0001651	inframe_deletion	0	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64573203_64573205delCTC	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1102_1104delGAG	11.37:g.64573203_64573205delCTC	ENSP00000337088:p.Glu368del					MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000443283.1_In_Frame_Del_p.E368del|MEN1_ENST00000312049.6_In_Frame_Del_p.E363del|MEN1_ENST00000377316.2_In_Frame_Del_p.E363del|MEN1_ENST00000394374.2_In_Frame_Del_p.E368del|MEN1_ENST00000315422.4_In_Frame_Del_p.E363del|MEN1_ENST00000394376.1_In_Frame_Del_p.E368del|MEN1_ENST00000377321.1_In_Frame_Del_p.E328del|MEN1_ENST00000377326.3_In_Frame_Del_p.E363del|MEN1_ENST00000377313.1_In_Frame_Del_p.E368del	p.E368del	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN			8	1605_1607	-			368		Missing (in MEN1).	Interaction with FANCD2.		A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	In_Frame_Del	DEL	ENST00000337652.1	37	c.1102_1104delGAG	CCDS8083.1																																																																																				0.601	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			193	264						193	264	---	---	---	---
DDX10	1662	broad.mit.edu	37	11	108788635	108788637	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr11:108788635_108788637delTGA	ENST00000322536.3	+	17	2469_2471	c.2340_2342delTGA	c.(2338-2343)agtgat>agt	p.D788del	DDX10_ENST00000526794.1_In_Frame_Del_p.D788del	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	788					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGGATTGGAGtgatgatgatgat	0.355			T	NUP98	AML*																																	ENST00000526794.1				Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27						c.(2338-2343)agt>ag		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10				25,260,77,3902		0,2,0,23,4,0,250,5,67,1781						4.9	1.0			85	14,28,155,8057		0,0,0,14,0,0,28,12,131,3942	no	codingComplex	DDX10	NM_004398.2		0,2,0,37,4,0,278,17,198,5723	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		2.3867,8.4897,4.4656				39,288,232,11959				SO:0001651	inframe_deletion	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108788635_108788637delTGA	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.2340_2342delTGA	11.37:g.108788644_108788646delTGA	ENSP00000314348:p.Asp788del					DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del	p.SD780del			Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	17	2372_2374	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	780					B2RCQ3|Q5BJD8	In_Frame_Del	DEL	ENST00000322536.3	37	c.2340_2342delTGA	CCDS8342.1																																																																																				0.355	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		7	265						7	265	---	---	---	---
SCAF11	9169	broad.mit.edu	37	12	46320707	46320708	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr12:46320707_46320708delTC	ENST00000369367.3	-	11	3009_3010	c.2776_2777delGA	c.(2776-2778)gaafs	p.E926fs	SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs|SCAF11_ENST00000465950.1_Frame_Shift_Del_p.E611fs|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	926	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGTTCTCCTTTCTCTCTCTCTC	0.446																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(1831-1833)afs		SR-related CTD-associated factor 11																																				SO:0001589	frameshift_variant	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46320707_46320708delTC	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2776_2777delGA	12.37:g.46320717_46320718delTC	ENSP00000358374:p.Glu926fs					SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs|SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs	p.E611fs			Q99590	SCAFB_HUMAN			1	3040_3041	-			926					A6NEU9|A6NLW5|Q8IW59	Frame_Shift_Del	DEL	ENST00000369367.3	37	c.1831_1832delGA	CCDS8748.2																																																																																				0.446	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		13	1019						13	1019	---	---	---	---
CCNT1	904	broad.mit.edu	37	12	49087434	49087436	+	In_Frame_Del	DEL	ATG	ATG	-	rs371197465		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr12:49087434_49087436delATG	ENST00000261900.3	-	9	1783_1785	c.1561_1563delCAT	c.(1561-1563)catdel	p.H521del		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	521	His-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						AGTGGTGATTATGATGATGATGA	0.443																																						ENST00000261900.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(1561-1563)del		cyclin T1				12,4250		0,12,2119						4.8	1.0			307	3,8241		1,1,4120	no	coding	CCNT1	NM_001240.2		1,13,6239	A1A1,A1R,RR		0.0364,0.2816,0.1199				15,12491				SO:0001651	inframe_deletion	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49087434_49087436delATG	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1561_1563delCAT	12.37:g.49087443_49087445delATG	ENSP00000261900:p.His521del						p.H521del	NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN			9	1783_1785	-			521			His-rich.		A9XU13|E7EX76|O60581	In_Frame_Del	DEL	ENST00000261900.3	37	c.1561_1563delCAT	CCDS8766.1																																																																																				0.443	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		18	1452						18	1452	---	---	---	---
OR10A7	121364	broad.mit.edu	37	12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	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			10	890						10	890	---	---	---	---
OR6C75	390323	broad.mit.edu	37	12	55759192	55759192	+	Frame_Shift_Del	DEL	T	T	-	rs398102300|rs75456529	byFrequency	TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	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			13	999						13	999	---	---	---	---
OR6C75	390323	broad.mit.edu	37	12	55759486	55759486	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	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			14	692						14	692	---	---	---	---
MARS	4141	broad.mit.edu	37	12	57883053	57883053	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr12:57883053delT	ENST00000262027.5	+	3	338	c.204delT	c.(202-204)tatfs	p.Y68fs	MARS_ENST00000315473.5_5'UTR|ARHGAP9_ENST00000393797.2_5'Flank|ARHGAP9_ENST00000550288.1_5'Flank|MARS_ENST00000447721.2_Intron	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	68					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TGGGCAGATATTTTTTTTTGT	0.488																																						ENST00000262027.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33						c.(202-204)tafs		methionyl-tRNA synthetase	L-Methionine(DB00134)						103.0	103.0	103.0					12																	57883053		2203	4300	6503	SO:0001589	frameshift_variant	4141				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	g.chr12:57883053delT	X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.204delT	12.37:g.57883053delT	ENSP00000262027:p.Tyr68fs					MARS_ENST00000315473.5_5'UTR|MARS_ENST00000447721.2_Intron	p.Y68fs	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	GBM - Glioblastoma multiforme(3;4.27e-41)		3	338	+			68					B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Frame_Shift_Del	DEL	ENST00000262027.5	37	c.204delT	CCDS8942.1																																																																																				0.488	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		10	335						10	335	---	---	---	---
TMEM19	55266	broad.mit.edu	37	12	72094757	72094757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	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		7	1131						7	1131	---	---	---	---
C12orf42	374470	broad.mit.edu	37	12	103695960	103695960	+	Frame_Shift_Del	DEL	G	G	-	rs185386009		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr12:103695960delG	ENST00000378113.2	-	6	1234	c.1009delC	c.(1009-1011)cgcfs	p.R337fs	C12orf42_ENST00000548883.1_Frame_Shift_Del_p.R337fs|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548048.1_Frame_Shift_Del_p.R270fs	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	337										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CGGGTTGGGCGGGGGGGTGCT	0.587																																						ENST00000548048.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						c.(808-810)gcfs		chromosome 12 open reading frame 42			,	13,3511		2,9,1751	48.0	56.0	54.0		,	0.8	0.2	12		55	19,7773		0,19,3877	no	frameshift,frameshift	C12orf42	NM_198521.2,NM_001099336.1	,	2,28,5628	A1A1,A1R,RR		0.2438,0.3689,0.2828	,	,	103695960	32,11284	1843	4081	5924	SO:0001589	frameshift_variant	374470							g.chr12:103695960delG	AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.1009delC	12.37:g.103695960delG	ENSP00000367353:p.Arg337fs					C12orf42_ENST00000548883.1_Frame_Shift_Del_p.R337fs|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000378113.2_Frame_Shift_Del_p.R337fs	p.R270fs			Q96LP6	CL042_HUMAN			9	1304	-			337					Q49A64|Q4G0S2	Frame_Shift_Del	DEL	ENST00000378113.2	37	c.808delC	CCDS44963.1																																																																																				0.587	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521		9	654						9	654	---	---	---	---
HCFC2	29915	broad.mit.edu	37	12	104476535	104476535	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr12:104476535delA	ENST00000229330.4	+	7	1023	c.919delA	c.(919-921)aaafs	p.K308fs		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	308					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)	p.N309fs*32(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TCAGGAAGATAAAAAAAATTC	0.373																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	ENST00000229330.4																			1	Deletion - Frameshift(1)	p.N309fs*32(1)	ovary(1)	breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(919-921)aafs		host cell factor C2							66.0	68.0	67.0					12																	104476535		2203	4300	6503	SO:0001589	frameshift_variant	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104476535delA	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.919delA	12.37:g.104476535delA	ENSP00000229330:p.Lys308fs						p.K308fs	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN			7	1023	+			308					B2R8Q5|C0H5X3	Frame_Shift_Del	DEL	ENST00000229330.4	37	c.919delA	CCDS9097.1																																																																																				0.373	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		8	544						8	544	---	---	---	---
GCN1L1	10985	broad.mit.edu	37	12	120595737	120595739	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr12:120595737_120595739delCTC	ENST00000300648.6	-	26	3013_3015	c.3001_3003delGAG	c.(3001-3003)gagdel	p.E1001del	MIR4498_ENST00000577599.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1001					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGCCATCCACTCCTCCTCCTCC	0.631																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(3001-3003)del		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)																																				SO:0001651	inframe_deletion	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120595737_120595739delCTC	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.3001_3003delGAG	12.37:g.120595746_120595748delCTC	ENSP00000300648:p.Glu1001del						p.E1001del	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			26	3013_3015	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1001					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	In_Frame_Del	DEL	ENST00000300648.6	37	c.3001_3003delGAG	CCDS41847.1																																																																																				0.631	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			7	409						7	409	---	---	---	---
MLEC	9761	broad.mit.edu	37	12	121134166	121134168	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr12:121134166_121134168delGAA	ENST00000228506.3	+	5	1125_1127	c.697_699delGAA	c.(697-699)gaadel	p.E238del	RP11-173P15.3_ENST00000541383.1_RNA|MLEC_ENST00000412616.2_In_Frame_Del_p.K159del|RP11-173P15.3_ENST00000535720.1_RNA	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		20	856						20	856	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23914687	23914687	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr13:23914687delT	ENST00000382292.3	-	9	3601	c.3328delA	c.(3328-3330)attfs	p.I1110fs	SACS_ENST00000402364.1_Frame_Shift_Del_p.I360fs|SACS_ENST00000382298.3_Frame_Shift_Del_p.I1110fs			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_ENST00000382292.3_Frame_Shift_Del_p.I1110fs|SACS_ENST00000402364.1_Frame_Shift_Del_p.I360fs	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		15	921						15	921	---	---	---	---
RBM26	64062	broad.mit.edu	37	13	79918806	79918807	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr13:79918806_79918807insT	ENST00000438737.2	-	15	2621_2622	c.2181_2182insA	c.(2179-2184)aaacagfs	p.Q728fs	RBM26_ENST00000438724.1_Frame_Shift_Ins_p.Q704fs|RBM26_ENST00000267229.7_Frame_Shift_Ins_p.Q701fs			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	728					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GTACTTACCTGTTTTTTTTTCT	0.332																																						ENST00000438737.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(2179-2184)aaaggafs		RNA binding motif protein 26																																				SO:0001589	frameshift_variant	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79918806_79918807insT	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.2182dupA	13.37:g.79918815_79918815dupT	ENSP00000387531:p.Gln728fs					RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs|RBM26_ENST00000267229.7_Frame_Shift_Ins_p.G701fs	p.G728fs			Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	15	2621_2622	-		Acute lymphoblastic leukemia(28;0.0279)	728					B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Frame_Shift_Ins	INS	ENST00000438737.2	37	c.2181_2182insA																																																																																					0.332	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		9	170						9	170	---	---	---	---
OR11H12	440153	broad.mit.edu	37	14	19378219	19378219	+	Frame_Shift_Del	DEL	G	G	-	rs201735699	byFrequency	TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr14:19378219delG	ENST00000550708.1	+	1	698	c.626delG	c.(625-627)agafs	p.R209fs		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTGCCCCAAGAATCCAACTG	0.428													g|G|-|deletion	4	0.000798722	0.0008	0.0014	5008	,	,		25315	0.002		0.0	False		,,,				2504	0.0					ENST00000550708.1																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(625-627)aafs		olfactory receptor, family 11, subfamily H, member 12				9,1287		1,7,640	1.0	1.0	1.0			0.6	0.5	14		1	9,2605		2,5,1300	no	frameshift	OR11H12	NM_001013354.1		3,12,1940	A1A1,A1R,RR		0.3443,0.6944,0.4604			19378219	18,3892	496	1109	1605	SO:0001589	frameshift_variant	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19378219delG		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.626delG	14.37:g.19378219delG	ENSP00000449002:p.Arg209fs						p.R209fs	NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	698	+	all_cancers(95;0.00108)		209						Frame_Shift_Del	DEL	ENST00000550708.1	37	c.626delG	CCDS32017.1																																																																																				0.428	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		9	257						9	257	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20138372	20138372	+	RNA	DEL	G	G	-	rs542749146|rs368935470		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr14:20138372delG	ENST00000548261.1	+	0	391																											TGAAACAaaagaaagaaagaa	0.398																																						ENST00000548261.1																			0																																																			0							g.chr14:20138372delG																													14.37:g.20138372delG														0	391	+									RNA	DEL	ENST00000548261.1	37																																																																																						0.398	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			4	9						4	9	---	---	---	---
IRF9	10379	broad.mit.edu	37	14	24633132	24633134	+	In_Frame_Del	DEL	AGC	AGC	-	rs199740615		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr14:24633132_24633134delAGC	ENST00000396864.3	+	5	828_830	c.541_543delAGC	c.(541-543)agcdel	p.S187del	IRF9_ENST00000557894.1_In_Frame_Del_p.S85del|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	187	Poly-Ser.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		AGACATTGGGagcagcagcagca	0.567																																						ENST00000396864.3																			0				NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(541-543)del		interferon regulatory factor 9				167,4097		0,167,1965						-2.5	0.0			53	342,7912		0,342,3785	no	coding	IRF9	NM_006084.4		0,509,5750	A1A1,A1R,RR		4.1434,3.9165,4.0661				509,12009				SO:0001651	inframe_deletion	10379				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr14:24633132_24633134delAGC	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.541_543delAGC	14.37:g.24633141_24633143delAGC	ENSP00000380073:p.Ser187del					IRF9_ENST00000557894.1_In_Frame_Del_p.S85del|RP11-468E2.4_ENST00000558468.1_3'UTR	p.S187del	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN		GBM - Glioblastoma multiforme(265;0.00853)	5	828_830	+			187			Poly-Ser.		D3DS61	In_Frame_Del	DEL	ENST00000396864.3	37	c.541_543delAGC	CCDS9615.1																																																																																				0.567	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2			9	323						9	323	---	---	---	---
BAZ1A	11177	broad.mit.edu	37	14	35331422	35331423	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr14:35331422_35331423insT	ENST00000382422.2	-	2	546_547	c.219_220insA	c.(217-222)aaagcafs	p.A74fs	BAZ1A_ENST00000360310.1_Frame_Shift_Ins_p.A74fs|BAZ1A_ENST00000358716.4_Frame_Shift_Ins_p.A74fs|BAZ1A_ENST00000553853.1_5'UTR			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	74	Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC. {ECO:0000255|PROSITE- ProRule:PRU00475}.				chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TTCTGTCTTGCTTTTTTTTCTG	0.426																																						ENST00000360310.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(217-222)aacaagfs		bromodomain adjacent to zinc finger domain, 1A																																				SO:0001589	frameshift_variant	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35331422_35331423insT	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.220dupA	14.37:g.35331430_35331430dupT	ENSP00000371859:p.Ala74fs					BAZ1A_ENST00000553853.1_5'UTR|BAZ1A_ENST00000382422.2_Frame_Shift_Ins_p.NK73fs|BAZ1A_ENST00000358716.4_Frame_Shift_Ins_p.NK73fs	p.NK73fs	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	3	786_787	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		73			Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC.		Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Frame_Shift_Ins	INS	ENST00000382422.2	37	c.219_220insA	CCDS9651.1																																																																																				0.426	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			8	796						8	796	---	---	---	---
ABHD12B	145447	broad.mit.edu	37	14	51370180	51370180	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr14:51370180delA	ENST00000337334.2	+	11	952	c.937delA	c.(937-939)aaafs	p.K314fs	PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000395752.1_Frame_Shift_Del_p.K207fs|ABHD12B_ENST00000353130.1_Frame_Shift_Del_p.K237fs	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	314							hydrolase activity (GO:0016787)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					GGAGTATGGGAAAAAGGTAAA	0.398																																						ENST00000337334.2																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10						c.(937-939)aafs		abhydrolase domain containing 12B							144.0	128.0	133.0					14																	51370180		2203	4300	6503	SO:0001589	frameshift_variant	145447						hydrolase activity	g.chr14:51370180delA	BG698443	CCDS9702.1, CCDS55916.1	14q21.3	2009-10-09	2007-04-03	2007-04-03	ENSG00000131969	ENSG00000131969		"""Abhydrolase domain containing"""	19837	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 29"""	C14orf29			Standard	NM_181814		Approved	BEM46L3	uc001wys.3	Q7Z5M8	OTTHUMG00000140286	ENST00000337334.2:c.937delA	14.37:g.51370180delA	ENSP00000336693:p.Lys314fs					ABHD12B_ENST00000395752.1_Frame_Shift_Del_p.K207fs|ABHD12B_ENST00000353130.1_Frame_Shift_Del_p.K237fs|PYGL_ENST00000532462.1_Intron	p.K314fs	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN			11	952	+	all_epithelial(31;0.00481)|Breast(41;0.148)		314					Q3KNR9|Q3KNS0|Q7Z5M6|Q7Z5M7|Q8N4D2	Frame_Shift_Del	DEL	ENST00000337334.2	37	c.937delA	CCDS55916.1																																																																																				0.398	ABHD12B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411030.1			7	619						7	619	---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72190482	72190484	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	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_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del	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_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000554874.1_3'UTR	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		19	682						19	682	---	---	---	---
RBM25	58517	broad.mit.edu	37	14	73572607	73572608	+	Frame_Shift_Del	DEL	AG	AG	-	rs150988201		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr14:73572607_73572608delAG	ENST00000261973.7	+	11	1480_1481	c.1195_1196delAG	c.(1195-1197)agafs	p.R399fs	RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	399	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		agagcgggaaagagagagagag	0.446																																						ENST00000261973.7																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(1195-1197)afs		RNA binding motif protein 25																																				SO:0001589	frameshift_variant	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73572607_73572608delAG	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1195_1196delAG	14.37:g.73572617_73572618delAG	ENSP00000261973:p.Arg399fs					RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs	p.R399fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	11	1480_1481	+			399			Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Frame_Shift_Del	DEL	ENST00000261973.7	37	c.1195_1196delAG	CCDS32113.1																																																																																				0.446	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		12	174						12	174	---	---	---	---
GALC	2581	broad.mit.edu	37	14	88406276	88406276	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr14:88406276delT	ENST00000261304.2	-	16	1990	c.1884delA	c.(1882-1884)aaafs	p.K628fs	GALC_ENST00000393568.4_Frame_Shift_Del_p.K605fs|GALC_ENST00000393569.2_Frame_Shift_Del_p.K602fs|GALC_ENST00000544807.2_Frame_Shift_Del_p.K572fs	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	628					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGTATACCATTTTTTTGCTG	0.308																																						ENST00000261304.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1882-1884)aafs		galactosylceramidase							160.0	154.0	156.0					14																	88406276		1860	4117	5977	SO:0001589	frameshift_variant	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88406276delT	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1884delA	14.37:g.88406276delT	ENSP00000261304:p.Lys628fs					GALC_ENST00000393568.4_Frame_Shift_Del_p.K605fs|GALC_ENST00000544807.2_Frame_Shift_Del_p.K572fs|GALC_ENST00000393569.2_Frame_Shift_Del_p.K602fs	p.K628fs	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN			16	1990	-			628					B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Frame_Shift_Del	DEL	ENST00000261304.2	37	c.1884delA	CCDS9878.2																																																																																				0.308	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2			7	1036						7	1036	---	---	---	---
TTC8	123016	broad.mit.edu	37	14	89338724	89338726	+	In_Frame_Del	DEL	CAA	CAA	-	rs575952395		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr14:89338724_89338726delCAA	ENST00000345383.5	+	12	1329_1331	c.1245_1247delCAA	c.(1243-1248)gtcaac>gtc	p.N419del	TTC8_ENST00000358622.5_In_Frame_Del_p.N231del|TTC8_ENST00000380656.2_In_Frame_Del_p.N429del|TTC8_ENST00000536576.1_In_Frame_Del_p.N190del|TTC8_ENST00000354441.6_In_Frame_Del_p.N164del|TTC8_ENST00000338104.6_In_Frame_Del_p.N445del|TTC8_ENST00000346301.4_In_Frame_Del_p.N389del	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	455					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGGCTCTGGTCAACAACAACAAC	0.537																																						ENST00000338104.6																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(1321-1326)gtc>gt		tetratricopeptide repeat domain 8			,,	184,4080		91,2,2039					,,	3.2	1.0			114	384,7870		189,6,3932	no	coding,coding,coding	TTC8	NM_198310.2,NM_198309.2,NM_144596.2	,,	280,8,5971	A1A1,A1R,RR		4.6523,4.3152,4.5375	,,	,,		568,11950				SO:0001651	inframe_deletion	123016				cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	g.chr14:89338724_89338726delCAA	AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"""Tetratricopeptide (TTC) repeat domain containing"""	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.1245_1247delCAA	14.37:g.89338733_89338735delCAA	ENSP00000339486:p.Asn419del					TTC8_ENST00000354441.6_In_Frame_Del_p.VN160del|TTC8_ENST00000345383.5_In_Frame_Del_p.VN415del|TTC8_ENST00000380656.2_In_Frame_Del_p.VN425del|TTC8_ENST00000536576.1_In_Frame_Del_p.VN186del|TTC8_ENST00000346301.4_In_Frame_Del_p.VN385del|TTC8_ENST00000358622.5_In_Frame_Del_p.VN227del	p.VN441del			Q8TAM2	TTC8_HUMAN			13	1375_1377	+			451					A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	In_Frame_Del	DEL	ENST00000345383.5	37	c.1323_1325delCAA	CCDS9885.1																																																																																				0.537	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596		7	555						7	555	---	---	---	---
CHGA	1113	broad.mit.edu	37	14	93397924	93397926	+	In_Frame_Del	DEL	GAG	GAG	-	rs371215355|rs575196921	byFrequency	TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr14:93397924_93397926delGAG	ENST00000216492.5	+	6	965_967	c.685_687delGAG	c.(685-687)gagdel	p.E236del	CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	236					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AAAGAGAgaagaggaggaggagg	0.645														31	0.0061901	0.0197	0.0029	5008	,	,		19158	0.001		0.0	False		,,,				2504	0.002				Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	ENST00000216492.5																			0				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8						c.(685-687)del		chromogranin A (parathyroid secretory protein 1)																																				SO:0001651	inframe_deletion	1113				regulation of blood pressure	extracellular region|stored secretory granule		g.chr14:93397924_93397926delGAG		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"""vasostatin"", ""pancreastatin"", ""parastatin"""	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.685_687delGAG	14.37:g.93397933_93397935delGAG	ENSP00000216492:p.Glu236del					CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR	p.E236del	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)	6	965_967	+		all_cancers(154;0.0843)	236					B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	In_Frame_Del	DEL	ENST00000216492.5	37	c.685_687delGAG	CCDS9906.1																																																																																				0.645	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275		11	161						11	161	---	---	---	---
LOC101927079	101927079	broad.mit.edu	37	15	22332412	22332413	+	RNA	INS	-	-	A	rs373011460		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr15:22332412_22332413insA	ENST00000558896.1	+	0	219_220																											TTGGCTTGATGAAAAAAAACAA	0.322																																						ENST00000558896.1																			0																																																			0							g.chr15:22332412_22332413insA																													15.37:g.22332420_22332420dupA														0	219_220	+									RNA	INS	ENST00000558896.1	37																																																																																						0.322	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			9	679						9	679	---	---	---	---
ZNF106	64397	broad.mit.edu	37	15	42742957	42742957	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr15:42742957delA	ENST00000263805.4	-	2	1770	c.1444delT	c.(1444-1446)tccfs	p.S482fs	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_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	753						7	753	---	---	---	---
ICE2	79664	broad.mit.edu	37	15	60745782	60745782	+	Frame_Shift_Del	DEL	A	A	-	rs181931922	byFrequency	TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	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	165						8	165	---	---	---	---
MLST8	64223	broad.mit.edu	37	16	2258237	2258237	+	Frame_Shift_Del	DEL	G	G	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr16:2258237delG	ENST00000569417.1	+	7	954	c.600delG	c.(598-600)acgfs	p.T200fs	MLST8_ENST00000397124.1_Frame_Shift_Del_p.T200fs|MLST8_ENST00000301724.10_Frame_Shift_Del_p.T200fs|MLST8_ENST00000564088.1_Frame_Shift_Del_p.T200fs|MLST8_ENST00000565250.1_Frame_Shift_Del_p.T200fs|MLST8_ENST00000382450.4_Frame_Shift_Del_p.T199fs|MLST8_ENST00000301725.7_Intron|MLST8_ENST00000561651.1_Intron	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	200					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				large_intestine(3)|lung(2)|skin(1)	6						GGAATCTGACGGGGGGCATTG	0.627																																						ENST00000569417.1																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(598-600)acfs		MTOR associated protein, LST8 homolog (S. cerevisiae)							110.0	121.0	117.0					16																	2258237		2067	4199	6266	SO:0001589	frameshift_variant	64223				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding	g.chr16:2258237delG		CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965		"""WD repeat domain containing"""	24825	protein-coding gene	gene with protein product	"""G protein beta subunit like"""	612190				12477932	Standard	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.600delG	16.37:g.2258237delG	ENSP00000456405:p.Thr200fs					MLST8_ENST00000301725.7_Intron|MLST8_ENST00000565250.1_Frame_Shift_Del_p.T200fs|MLST8_ENST00000397124.1_Frame_Shift_Del_p.T200fs|MLST8_ENST00000564088.1_Frame_Shift_Del_p.T200fs|MLST8_ENST00000382450.4_Frame_Shift_Del_p.T199fs|MLST8_ENST00000561651.1_Intron|MLST8_ENST00000301724.10_Frame_Shift_Del_p.T200fs	p.T200fs	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN			7	954	+			200					B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Frame_Shift_Del	DEL	ENST00000569417.1	37	c.600delG	CCDS10462.2																																																																																				0.627	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250763.2	NM_022372		7	555						7	555	---	---	---	---
UBN1	29855	broad.mit.edu	37	16	4910691	4910693	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr16:4910691_4910693delAGA	ENST00000396658.4	+	6	1401_1403	c.698_700delAGA	c.(697-702)gagaag>gag	p.K238del	UBN1_ENST00000590769.1_In_Frame_Del_p.K238del|UBN1_ENST00000262376.6_In_Frame_Del_p.K238del|UBN1_ENST00000545171.1_In_Frame_Del_p.K238del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	238	Lys-rich.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K234E(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GCCAGTAAGGAGAAGAAGAAGAA	0.453																																						ENST00000396658.4																			1	Substitution - Missense(1)	p.K234E(1)	large_intestine(1)	NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(697-702)gag>g		ubinuclein 1																																				SO:0001651	inframe_deletion	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4910691_4910693delAGA	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.698_700delAGA	16.37:g.4910700_4910702delAGA	ENSP00000379894:p.Lys238del					UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del|UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del|UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del	p.EK233del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			6	1401_1403	+			233			Lys-rich.		B7Z6D3|D3DUE8|Q13079|Q9P1P7	In_Frame_Del	DEL	ENST00000396658.4	37	c.698_700delAGA	CCDS10525.1																																																																																				0.453	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		8	742						8	742	---	---	---	---
EIF3C	8663	broad.mit.edu	37	16	28734579	28734581	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr16:28734579_28734581delGAG	ENST00000331666.6	+	9	1057_1059	c.871_873delGAG	c.(871-873)gagdel	p.E294del	EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del|EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del					eukaryotic translation initiation factor 3, subunit C											lung(5)|skin(1)	6						GCGCCTGGATGAGGAGGAGGAGG	0.562																																						ENST00000331666.6																			0				lung(5)|skin(1)	6						c.(871-873)del		eukaryotic translation initiation factor 3, subunit C																																				SO:0001651	inframe_deletion	8663					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr16:28734579_28734581delGAG	U46025	CCDS10638.1, CCDS66993.1	16p11.2	2008-02-05	2007-07-27	2007-07-27		ENSG00000184110			3279	protein-coding gene	gene with protein product		603916	"""eukaryotic translation initiation factor 3, subunit 8, 110kDa"""	EIF3S8		8995409	Standard	NM_001199142		Approved	eIF3-p110, eIF3c	uc002dph.4	Q99613		ENST00000331666.6:c.871_873delGAG	16.37:g.28734588_28734590delGAG	ENSP00000332604:p.Glu294del					EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del	p.E294del			Q99613	EIF3C_HUMAN			9	1057_1059	+			294			Poly-Glu.			In_Frame_Del	DEL	ENST00000331666.6	37	c.871_873delGAG	CCDS10638.1																																																																																				0.562	EIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216908.3	NM_003752		10	2368						10	2368	---	---	---	---
RP11-67H24.2	0	broad.mit.edu	37	16	32823636	32823637	+	lincRNA	INS	-	-	C	rs112857933		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr16:32823636_32823637insC	ENST00000569859.1	+	0	373																											TTGCTGGAGTGGATGTGACAGG	0.495																																						ENST00000569859.1																			0																																																			0							g.chr16:32823636_32823637insC																													16.37:g.32823636_32823637insC														0	373	+									RNA	INS	ENST00000569859.1	37																																																																																						0.495	RP11-67H24.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000432377.1			9	160						9	160	---	---	---	---
SLC9A5	6553	broad.mit.edu	37	16	67300017	67300019	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr16:67300017_67300019delGAG	ENST00000299798.11	+	15	2172_2174	c.2107_2109delGAG	c.(2107-2109)gagdel	p.E708del	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	708					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CGTGGAGTCTGAGGAGGAGGAGG	0.571																																						ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(2107-2109)del		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5																																				SO:0001651	inframe_deletion	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67300017_67300019delGAG		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.2107_2109delGAG	16.37:g.67300026_67300028delGAG	ENSP00000299798:p.Glu708del						p.E708del	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	15	2172_2174	+		Ovarian(137;0.0563)	708					A5PKY7|Q9Y626	In_Frame_Del	DEL	ENST00000299798.11	37	c.2107_2109delGAG	CCDS42178.1																																																																																				0.571	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			9	159						9	159	---	---	---	---
ZFP90	146198	broad.mit.edu	37	16	68598462	68598463	+	Frame_Shift_Ins	INS	-	-	A	rs543784734		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr16:68598462_68598463insA	ENST00000570495.1	+	5	2064_2065	c.1772_1773insA	c.(1771-1776)cgaaaafs	p.RK591fs	ZFP90_ENST00000563169.2_Frame_Shift_Ins_p.RK591fs|ZFP90_ENST00000398253.2_Frame_Shift_Ins_p.RK591fs			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	591					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		AGAGCCTTCCGAAAAAAAACCA	0.411																																						ENST00000570495.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1771-1773)caafs		ZFP90 zinc finger protein																																				SO:0001589	frameshift_variant	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68598462_68598463insA	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1780dupA	16.37:g.68598470_68598470dupA	ENSP00000460547:p.Arg591fs					ZFP90_ENST00000563169.2_Frame_Shift_Ins_p.Q591fs|ZFP90_ENST00000398253.2_Frame_Shift_Ins_p.Q591fs|RP11-615I2.7_ENST00000571720.1_RNA	p.Q591fs			Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	5	2064_2065	+		Ovarian(137;0.192)	591					B2RU00|B3KVE7|Q49AD1|Q96MQ6	Frame_Shift_Ins	INS	ENST00000570495.1	37	c.1772_1773insA	CCDS42183.1																																																																																				0.411	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		9	753						9	753	---	---	---	---
SNAI3	333929	broad.mit.edu	37	16	88745006	88745007	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr16:88745006_88745007delGC	ENST00000332281.5	-	3	814_815	c.728_729delGC	c.(727-729)agcfs	p.S243fs	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	243					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	copper ion binding (GO:0005507)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		CAAAGGCCCTGCTGCAGTGCGA	0.639																																					Colon(27;366 710 19748 23199 27567)	ENST00000332281.5																			0				NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6						c.(727-729)afs		snail family zinc finger 3																																				SO:0001589	frameshift_variant	333929				oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding	g.chr16:88745006_88745007delGC	BC041461	CCDS32505.1	16q24.3	2013-05-23	2013-05-23			ENSG00000185669		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	18411	protein-coding gene	gene with protein product		612741	"""zinc finger protein 293"", ""snail homolog 3 (Drosophila)"""	ZNF293		12579345	Standard	NM_178310		Approved	SMUC, Zfp293	uc002flj.3	Q3KNW1		ENST00000332281.5:c.728_729delGC	16.37:g.88745006_88745007delGC	ENSP00000327968:p.Ser243fs					SNAI3-AS1_ENST00000563261.1_RNA	p.S243fs	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.048)	3	814_815	-			243					Q86SU5	Frame_Shift_Del	DEL	ENST00000332281.5	37	c.728_729delGC	CCDS32505.1																																																																																				0.639	SNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422582.1			26	95						26	95	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27027202	27027204	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr17:27027202_27027204delAGC	ENST00000314616.6	+	34	4856_4858	c.4573_4575delAGC	c.(4573-4575)agcdel	p.S1528del	SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1528	Poly-Ser.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CATCACCCCTAGCAGCAGCAGCA	0.537																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4573-4575)del		suppressor of Ty 6 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27027202_27027204delAGC	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4573_4575delAGC	17.37:g.27027211_27027213delAGC	ENSP00000319104:p.Ser1528del					SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			34	4856_4858	+	Lung NSC(42;0.00431)		1528			Poly-Ser.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	In_Frame_Del	DEL	ENST00000314616.6	37	c.4573_4575delAGC	CCDS32596.1																																																																																				0.537	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		13	1114						13	1114	---	---	---	---
SUZ12P1	440423	broad.mit.edu	37	17	29096086	29096087	+	RNA	INS	-	-	T	rs560743331|rs199852971		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr17:29096086_29096087insT	ENST00000582557.1	+	0	1381																											AATATTGGTAATTTTTTTTTTT	0.347																																						ENST00000582557.1																			0																																																			0							g.chr17:29096086_29096087insT																													17.37:g.29096097_29096097dupT														0	1381	+									RNA	INS	ENST00000582557.1	37																																																																																						0.347	SUZ12P-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444260.1			10	105						10	105	---	---	---	---
SPAG9	9043	broad.mit.edu	37	17	49077041	49077041	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr17:49077041delT	ENST00000262013.7	-	14	1853	c.1645delA	c.(1645-1647)aggfs	p.R549fs	SPAG9_ENST00000357122.4_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000505279.1_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000510283.1_Frame_Shift_Del_p.R392fs	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		13	270						13	270	---	---	---	---
LRRC37A16P	651250	broad.mit.edu	37	17	66141015	66141016	+	RNA	INS	-	-	A	rs376314569		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr17:66141015_66141016insA	ENST00000590019.1	-	0	70									leucine rich repeat containing 37, member A16, pseudogene																		CCAAGATTTCTACAAAAAAAAA	0.322																																						ENST00000590019.1																			0																																																			0							g.chr17:66141015_66141016insA			17q24.2	2012-10-18				ENSG00000267023			43820	pseudogene	pseudogene							Standard	NG_023507		Approved				OTTHUMG00000180160		17.37:g.66141016_66141016dupA														0	70	-									RNA	INS	ENST00000590019.1	37																																																																																						0.322	LRRC37A16P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000450078.1			8	369						8	369	---	---	---	---
TNRC6C	57690	broad.mit.edu	37	17	76046980	76046980	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr17:76046980delA	ENST00000588061.1	+	5	2564	c.1837delA	c.(1837-1839)aaafs	p.K614fs	TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000335749.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	614	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGGGGATGGGAAAAAAAATGG	0.522																																						ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(1837-1839)aafs		trinucleotide repeat containing 6C			,	8,3764		1,6,1879	77.0	78.0	78.0		,	-0.2	0.8	17	dbSNP_130	79	42,7894		10,22,3936	no	frameshift,frameshift	TNRC6C	NM_018996.3,NM_001142640.1	,	11,28,5815	A1A1,A1R,RR		0.5292,0.2121,0.4271	,	,	76046980	50,11658	1966	4142	6108	SO:0001589	frameshift_variant	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76046980delA	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1837delA	17.37:g.76046980delA	ENSP00000468647:p.Lys614fs					TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs	p.K614fs	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		3	2406	+			614			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Frame_Shift_Del	DEL	ENST00000588061.1	37	c.1837delA	CCDS45798.1																																																																																				0.522	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		8	533						8	533	---	---	---	---
MTCL1	23255	broad.mit.edu	37	18	8793004	8793004	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr18:8793004delC	ENST00000359865.3	+	8	2038	c.1896delC	c.(1894-1896)ggcfs	p.G632fs	SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000306285.7_5'UTR	NM_015210.3	NP_056025.2																					AGCTCAGGGGCCCCCCCGTTT	0.552																																						ENST00000359865.3																			0											c.(1894-1896)ggfs		SOGA family member 2							98.0	108.0	104.0					18																	8793004		2203	4300	6503	SO:0001589	frameshift_variant	23255							g.chr18:8793004delC																												ENST00000359865.3:c.1896delC	18.37:g.8793004delC	ENSP00000352927:p.Gly632fs					SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000306285.7_5'UTR	p.G632fs	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			8	2038	+			980						Frame_Shift_Del	DEL	ENST00000359865.3	37	c.1896delC	CCDS11841.1																																																																																				0.552	SOGA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254476.1			12	890						12	890	---	---	---	---
LMAN1	3998	broad.mit.edu	37	18	57013284	57013285	+	Splice_Site	INS	-	-	T			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr18:57013284_57013285insT	ENST00000251047.5	-	8	1540		c.e8-1		LMAN1_ENST00000587940.1_Splice_Site	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1						blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	CTGGTGTGGGCTTTTTTTTGGA	0.297																																						ENST00000251047.5																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	GRCh37	CS054904	LMAN1	S		c.e8-1		lectin, mannose-binding, 1	Antihemophilic Factor(DB00025)																																			SO:0001630	splice_region_variant	3998				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	g.chr18:57013284_57013285insT	X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"""endoplasmic reticulum-golgi intermediate compartment protein 53"""	601567	"""coagulation factor V-factor VIII combined deficiency"""	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.823-1->A	18.37:g.57013292_57013292dupT						LMAN1_ENST00000587940.1_Splice_Site		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN			8	1540	-		Colorectal(73;0.0946)						Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Splice_Site	INS	ENST00000251047.5	37		CCDS11974.1																																																																																				0.297	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570	Intron	10	498						10	498	---	---	---	---
UHRF1	29128	broad.mit.edu	37	19	4960949	4960949	+	RNA	DEL	T	T	-	rs146145010	byFrequency	TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr19:4960949delT	ENST00000592666.1	+	0	3092							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		TTTGTCTTCCttttttttttt	0.343													|||unknown(HR)	3886	0.775958	0.674	0.7752	5008	,	,		17212	0.7867		0.8728	False		,,,				2504	0.8037					ENST00000592666.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16								ubiquitin-like with PHD and ring finger domains 1																																						29128				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:4960949delT	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4960949delT										Q96T88	UHRF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)	0	3092	+								A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	DEL	ENST00000592666.1	37																																																																																						0.343	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201		9	5						9	5	---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10262139	10262139	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr19:10262139delT	ENST00000340748.4	-	23	2387	c.2152delA	c.(2152-2154)atgfs	p.M718fs	DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs|DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	718	Autoinhibitory linker.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CCCTGGTGCATTTTTTTGGGT	0.507																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(2152-2154)tgfs		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						266.0	220.0	236.0					19																	10262139		2203	4300	6503	SO:0001589	frameshift_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10262139delT	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2152delA	19.37:g.10262139delT	ENSP00000345739:p.Met718fs					DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs|DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs	p.M718fs			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		23	2387	-			718					A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Frame_Shift_Del	DEL	ENST00000340748.4	37	c.2152delA	CCDS12228.1																																																																																				0.507	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		11	835						11	835	---	---	---	---
ZNF442	79973	broad.mit.edu	37	19	12461741	12461741	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr19:12461741delA	ENST00000242804.4	-	6	1240	c.658delT	c.(658-660)tggfs	p.W220fs	CTD-3105H18.13_ENST00000563695.2_lincRNA|ZNF442_ENST00000438182.1_Frame_Shift_Del_p.W151fs	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	220					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						AAACTAGGCCAAAAAAAGGCT	0.403																																						ENST00000242804.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(658-660)ggfs		zinc finger protein 442							136.0	132.0	134.0					19																	12461741		2203	4300	6503	SO:0001589	frameshift_variant	79973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12461741delA	AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.658delT	19.37:g.12461741delA	ENSP00000242804:p.Trp220fs					ZNF442_ENST00000438182.1_Frame_Shift_Del_p.W151fs	p.W220fs	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN			6	1240	-			220					B4DJ48	Frame_Shift_Del	DEL	ENST00000242804.4	37	c.658delT	CCDS12271.1																																																																																				0.403	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824		8	829						8	829	---	---	---	---
LSM14A	26065	broad.mit.edu	37	19	34710340	34710340	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr19:34710340delC	ENST00000433627.5	+	7	901	c.826delC	c.(826-828)cggfs	p.R276fs	LSM14A_ENST00000540746.2_Frame_Shift_Del_p.R235fs|LSM14A_ENST00000544216.3_Frame_Shift_Del_p.R276fs	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	276					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					TGGGGGTCATCGGGGTGGCAG	0.438																																						ENST00000544216.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22						c.(826-828)ggfs		LSM14A, SCD6 homolog A (S. cerevisiae)							75.0	85.0	82.0					19																	34710340		2203	4300	6503	SO:0001589	frameshift_variant	26065				cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		g.chr19:34710340delC	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"""chromosome 19 open reading frame 13"", ""family with sequence similarity 61, member A"", ""LSM14 homolog A (SCD6, S. cerevisiae)"""	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.826delC	19.37:g.34710340delC	ENSP00000413964:p.Arg276fs					LSM14A_ENST00000540746.2_Frame_Shift_Del_p.R235fs|LSM14A_ENST00000433627.5_Frame_Shift_Del_p.R276fs	p.R276fs	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN			7	903	+	Esophageal squamous(110;0.162)		276					B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Frame_Shift_Del	DEL	ENST00000433627.5	37	c.826delC	CCDS46040.1																																																																																				0.438	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		7	689						7	689	---	---	---	---
ATP4A	495	broad.mit.edu	37	19	36054349	36054351	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr19:36054349_36054351delCTT	ENST00000262623.3	-	2	119_121	c.91_93delAAG	c.(91-93)aagdel	p.K31del		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	31					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CGCCACCCGCCTTCTTCTTCTTG	0.601																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(91-93)del		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)																																			SO:0001651	inframe_deletion	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36054349_36054351delCTT		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.91_93delAAG	19.37:g.36054358_36054360delCTT	ENSP00000262623:p.Lys31del						p.K31del	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	119_121	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		31					O00738	In_Frame_Del	DEL	ENST00000262623.3	37	c.91_93delAAG	CCDS12467.1																																																																																				0.601	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		8	1046						8	1046	---	---	---	---
SERTAD1	29950	broad.mit.edu	37	19	40929409	40929411	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr19:40929409_40929411delCTC	ENST00000357949.4	-	2	201_203	c.43_45delGAG	c.(43-45)gagdel	p.E15del		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	15					positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription, DNA-templated (GO:0006351)					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGGTTCCTTCTCCTCCTCCTCC	0.557																																						ENST00000357949.4																			0				endometrium(2)|lung(1)|prostate(1)|skin(1)	5						c.(43-45)del		SERTA domain containing 1																																				SO:0001651	inframe_deletion	29950				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr19:40929409_40929411delCTC	AF117959	CCDS12557.1	19q13.1-q13.2	2008-02-05				ENSG00000197019			17932	protein-coding gene	gene with protein product	"""CDK4-binding protein p34SEI"", ""transcriptional regulator interacting with the PHD-bromodomain 1"""					6434876, 10580009	Standard	NM_013376		Approved	SEI1, TRIP-Br1	uc002ont.4	Q9UHV2		ENST00000357949.4:c.43_45delGAG	19.37:g.40929418_40929420delCTC	ENSP00000350633:p.Glu15del						p.E15del	NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	201_203	-			15					Q9BUE7	In_Frame_Del	DEL	ENST00000357949.4	37	c.43_45delGAG	CCDS12557.1																																																																																				0.557	SERTAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462571.1	NM_013376		7	304						7	304	---	---	---	---
LIPE-AS1	100996307	broad.mit.edu	37	19	43136362	43136363	+	RNA	DEL	TG	TG	-	rs142080128		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr19:43136362_43136363delTG	ENST00000594688.1	+	0	1450				LIPE-AS1_ENST00000594624.2_RNA	NR_073179.1				LIPE antisense RNA 1																		TGAGTATGTATGTGTGTGTGTG	0.505																																						ENST00000594688.1																			0																																																			0							g.chr19:43136362_43136363delTG	AK096849, BM974950		19q13.2	2013-05-21			ENSG00000213904	ENSG00000213904		"""Long non-coding RNAs"""	48589	non-coding RNA	RNA, long non-coding							Standard	NR_073179		Approved				OTTHUMG00000182815		19.37:g.43136372_43136373delTG						LIPE-AS1_ENST00000594624.2_RNA		NR_073179.1						0	1450	+									RNA	DEL	ENST00000594688.1	37																																																																																						0.505	LIPE-AS1-004	KNOWN	basic	antisense	antisense	OTTHUMT00000464099.1	NR_073179		7	89						7	89	---	---	---	---
MIR518F	574472	broad.mit.edu	37	19	54200829	54200830	+	RNA	INS	-	-	A	rs80268200|rs375674711	byFrequency	TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr19:54200829_54200830insA	ENST00000384973.1	+	0	0				MIR525_ENST00000384978.1_RNA|MIR519B_ENST00000385090.1_RNA|MIR523_ENST00000385281.1_RNA	NR_030194.1				microRNA 518f																		TCTCTTATGTGAAAAAAAAGAA	0.421														37	0.00738818	0.0265	0.0014	5008	,	,		21933	0.0		0.0	False		,,,				2504	0.001					ENST00000384978.1																			0																	161,86,3721		2,1,156,4,77,1744						-0.4	0.0			80	4,0,7482		0,0,4,0,0,3739	no	intergenic				2,1,160,4,77,5483	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0534,6.2248,2.1914				165,86,11203						0							g.chr19:54200829_54200830insA			19q13.42	2011-09-12		2008-12-18	ENSG00000207706	ENSG00000207706		"""ncRNAs / Micro RNAs"""	32104	non-coding RNA	RNA, micro				MIRN518F			Standard	NR_030194		Approved	hsa-mir-518f	uc021uzx.1				19.37:g.54200837_54200837dupA								NR_030192.1						0	43_44	+									RNA	INS	ENST00000384973.1	37																																																																																						0.421	MIR518F-201	KNOWN	basic	miRNA	miRNA		NR_030194		7	537						7	537	---	---	---	---
LILRB1	10859	broad.mit.edu	37	19	55146148	55146150	+	In_Frame_Del	DEL	CTC	CTC	-	rs543059448	byFrequency	TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr19:55146148_55146150delCTC	ENST00000396331.1	+	11	1774_1776	c.1417_1419delCTC	c.(1417-1419)ctcdel	p.L479del	LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000462628.1_3'UTR	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	479					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAtcctactgctcctcctcctcc	0.581										HNSCC(37;0.09)				8	0.00159744	0.0023	0.0014	5008	,	,		18237	0.002		0.001	False		,,,				2504	0.001					ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1417-1419)del		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1			,,,	21,4241		0,21,2110					,,,	0.7	0.0			137	49,8205		0,49,4078	no	coding,coding,coding,coding	LILRB1	NM_006669.3,NM_001081639.1,NM_001081638.1,NM_001081637.1	,,,	0,70,6188	A1A1,A1R,RR		0.5937,0.4927,0.5593	,,,	,,,		70,12446				SO:0001651	inframe_deletion	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55146148_55146150delCTC	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1417_1419delCTC	19.37:g.55146157_55146159delCTC	ENSP00000379622:p.Leu479del	HNSCC(37;0.09)				LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del	p.L479del	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	11	1774_1776	+			479					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	In_Frame_Del	DEL	ENST00000396331.1	37	c.1417_1419delCTC	CCDS42617.1																																																																																				0.581	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			19	316						19	316	---	---	---	---
GZF1	64412	broad.mit.edu	37	20	23345921	23345923	+	In_Frame_Del	DEL	GAG	GAG	-	rs547594353	byFrequency	TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr20:23345921_23345923delGAG	ENST00000338121.5	+	2	978_980	c.901_903delGAG	c.(901-903)gagdel	p.E306del	GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_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_ENST00000461789.1_3'UTR|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000377051.2_In_Frame_Del_p.E306del	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		8	348						8	348	---	---	---	---
KIF3B	9371	broad.mit.edu	37	20	30898763	30898765	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr20:30898763_30898765delGAG	ENST00000375712.3	+	2	1350_1352	c.1183_1185delGAG	c.(1183-1185)gagdel	p.E399del	KIF3B_ENST00000418717.2_Intron	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	399	Poly-Glu.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGGTGGggaagaggaggaggagg	0.571																																						ENST00000375712.3																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1183-1185)del		kinesin family member 3B				60,4204		6,48,2078						2.7	1.0			52	101,8153		6,89,4032	no	coding	KIF3B	NM_004798.3		12,137,6110	A1A1,A1R,RR		1.2236,1.4071,1.2861				161,12357				SO:0001651	inframe_deletion	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30898763_30898765delGAG	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1183_1185delGAG	20.37:g.30898772_30898774delGAG	ENSP00000364864:p.Glu399del					KIF3B_ENST00000418717.2_Intron	p.E399del	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	1350_1352	+			399			Poly-Glu.		B2RMP4|B4DSR5|E1P5M5	In_Frame_Del	DEL	ENST00000375712.3	37	c.1183_1185delGAG	CCDS13200.1																																																																																				0.571	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		10	230						10	230	---	---	---	---
NCOA6	23054	broad.mit.edu	37	20	33330968	33330970	+	In_Frame_Del	DEL	TGC	TGC	-	rs140426729	byFrequency	TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	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	494						10	494	---	---	---	---
SALL4	57167	broad.mit.edu	37	20	50408526	50408526	+	Frame_Shift_Del	DEL	G	G	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr20:50408526delG	ENST00000217086.4	-	2	607	c.496delC	c.(496-498)cagfs	p.Q166fs	SALL4_ENST00000395997.3_Frame_Shift_Del_p.Q166fs|SALL4_ENST00000483130.1_5'UTR|SALL4_ENST00000371539.3_Intron	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			10	1348						10	1348	---	---	---	---
GNAS-AS1	149775	broad.mit.edu	37	20	57405217	57405218	+	RNA	INS	-	-	CATATGATAG	rs367648965		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr20:57405217_57405218insCATATGATAG	ENST00000424094.2	-	0	819				GNAS-AS1_ENST00000598163.1_RNA	NR_002785.2				GNAS antisense RNA 1																		accaccaccactgctataccac	0.535																																						ENST00000424094.2																			0																																																			0							g.chr20:57405217_57405218insCATATGATAG	AJ251759		20q13.32	2012-10-19	2012-08-15	2010-11-25	ENSG00000235590	ENSG00000235590		"""Long non-coding RNAs"", ""-"""	24872	non-coding RNA	RNA, long non-coding	"""GNAS antisense"", ""non-protein coding RNA 75"""	610540	"""GNAS antisense RNA (non-protein coding)"", ""GNAS antisense RNA 1 (non-protein coding)"""	GNASAS, GNAS-AS		10749992	Standard	NR_002785		Approved	SANG, NESP-AS, NESPAS, GNAS1AS, NCRNA00075	uc002xzs.2		OTTHUMG00000060481		20.37:g.57405217_57405218insCATATGATAG						GNAS-AS1_ENST00000598163.1_RNA		NR_002785.2						0	819	-									RNA	INS	ENST00000424094.2	37																																																																																						0.535	GNAS-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000133891.2	NR_002785		3	4						3	4	---	---	---	---
GART	2618	broad.mit.edu	37	21	34882121	34882122	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chr21:34882121_34882122insT	ENST00000381831.3	-	18	2683_2684	c.2420_2421insA	c.(2419-2421)aagfs	p.K807fs	GART_ENST00000543717.1_Frame_Shift_Ins_p.K359fs|GART_ENST00000381815.4_Frame_Shift_Ins_p.K807fs|GART_ENST00000381839.3_Frame_Shift_Ins_p.K807fs	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	807	AIRS.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)	p.K807fs*7(2)		NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CCACTCTGGCCTTTTTTTTTTC	0.446																																						ENST00000381831.3																			2	Deletion - Frameshift(2)	p.K807fs*7(2)	ovary(2)	NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31						c.(2419-2421)agcfs		phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	Pemetrexed(DB00642)																																			SO:0001589	frameshift_variant	2618				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	g.chr21:34882121_34882122insT	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.2421dupA	21.37:g.34882131_34882131dupT	ENSP00000371253:p.Lys807fs					GART_ENST00000381815.4_Frame_Shift_Ins_p.S807fs|GART_ENST00000543717.1_Frame_Shift_Ins_p.S359fs|GART_ENST00000381839.3_Frame_Shift_Ins_p.S807fs	p.S807fs	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN			18	2683_2684	-			807			AIRS.		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Frame_Shift_Ins	INS	ENST00000381831.3	37	c.2420_2421insA	CCDS13627.1																																																																																				0.446	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		9	172						9	172	---	---	---	---
CNKSR2	22866	broad.mit.edu	37	X	21627678	21627680	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	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_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del	p.E856del	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			19	3025_3027	+			886					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	In_Frame_Del	DEL	ENST00000379510.3	37	c.2545_2547delGAG	CCDS14198.1																																																																																				0.517	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		12	218						12	218	---	---	---	---
ZFX	7543	broad.mit.edu	37	X	24229134	24229134	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chrX:24229134delA	ENST00000379177.1	+	11	2486	c.2059delA	c.(2059-2061)aaafs	p.K688fs	ZFX_ENST00000540034.1_Frame_Shift_Del_p.K727fs|ZFX_ENST00000338565.3_Frame_Shift_Del_p.K638fs|ZFX_ENST00000379188.3_Frame_Shift_Del_p.K688fs|ZFX_ENST00000304543.5_Frame_Shift_Del_p.K688fs|ZFX_ENST00000539115.1_Frame_Shift_Del_p.K459fs	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	688					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CCACAAGGGCAAAAAAATGCA	0.428																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(2059-2061)aafs		zinc finger protein, X-linked							121.0	110.0	114.0					X																	24229134		2203	4300	6503	SO:0001589	frameshift_variant	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24229134delA		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.2059delA	X.37:g.24229134delA	ENSP00000368475:p.Lys688fs					ZFX_ENST00000338565.3_Frame_Shift_Del_p.K638fs|ZFX_ENST00000540034.1_Frame_Shift_Del_p.K727fs|ZFX_ENST00000539115.1_Frame_Shift_Del_p.K459fs|ZFX_ENST00000379188.3_Frame_Shift_Del_p.K688fs|ZFX_ENST00000304543.5_Frame_Shift_Del_p.K688fs	p.K688fs	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN			11	2486	+			688					B9EG97|O43668|Q8WYJ8	Frame_Shift_Del	DEL	ENST00000379177.1	37	c.2059delA	CCDS14211.1																																																																																				0.428	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		8	748						8	748	---	---	---	---
DGKK	139189	broad.mit.edu	37	X	50165595	50165596	+	RNA	INS	-	-	AC	rs59226442|rs72026364		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chrX:50165595_50165596insAC	ENST00000376025.2	-	0	816							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTAAAAGGTAAacacacacaca	0.411														797	0.211126	0.1422	0.1383	3775	,	,		11957	0.2083		0.161	False		,,,				2504	0.1442					ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa																																						139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50165595_50165596insAC	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50165604_50165605dupAC										Q5KSL6	DGKK_HUMAN			0	816	-	Ovarian(276;0.236)							B2RP91	RNA	INS	ENST00000376025.2	37																																																																																						0.411	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		10	59						10	59	---	---	---	---
FAM120C	54954	broad.mit.edu	37	X	54209302	54209303	+	In_Frame_Ins	INS	-	-	GGCGGC			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chrX:54209302_54209303insGGCGGC	ENST00000375180.2	-	1	385_386	c.329_330insGCCGCC	c.(328-330)ccc>ccGCCGCCc	p.110_110P>PPP	FAM120C_ENST00000328235.4_In_Frame_Ins_p.110_110P>PPP|FAM120C_ENST00000497680.1_5'Flank|FAM120C_ENST00000477084.1_In_Frame_Ins_p.110_110P>PPP	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	110							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCTGAGGGGGCGGCGGCGG	0.748														77	0.0203974	0.0045	0.0159	3775	,	,		9228	0.0		0.0467	False		,,,				2504	0.0133					ENST00000375180.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(328-330)ccc>cGCCGCCcc		family with sequence similarity 120C																																				SO:0001652	inframe_insertion	54954							g.chrX:54209302_54209303insGGCGGC	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.324_329dupGCCGCC	X.37:g.54209303_54209308dupGGCGGC	ENSP00000364324:p.ProPro110dup					FAM120C_ENST00000477084.1_In_Frame_Ins_p.109_110insRR|FAM120C_ENST00000328235.4_In_Frame_Ins_p.109_110insRR	p.109_110insRR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN			1	385_386	-			109					B2RMT7	In_Frame_Ins	INS	ENST00000375180.2	37	c.329_330insGCCGCC	CCDS14356.1																																																																																				0.748	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		7	37						7	37	---	---	---	---
GNL3L	54552	broad.mit.edu	37	X	54578339	54578341	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chrX:54578339_54578341delGAA	ENST00000336470.4	+	12	1252_1254	c.1113_1115delGAA	c.(1111-1116)gggaag>ggg	p.K375del	GNL3L_ENST00000360845.2_In_Frame_Del_p.K375del	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	375					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						ACCGTTTGGGGAAGAAGAAGAAG	0.557																																						ENST00000336470.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						c.(1111-1116)ggg>gg		guanine nucleotide binding protein-like 3 (nucleolar)-like																																				SO:0001651	inframe_deletion	54552				ribosome biogenesis	nucleolus	GTP binding	g.chrX:54578339_54578341delGAA	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.1113_1115delGAA	X.37:g.54578348_54578350delGAA	ENSP00000338573:p.Lys375del					GNL3L_ENST00000360845.2_In_Frame_Del_p.GK371del	p.GK371del	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN			12	1252_1254	+			371						In_Frame_Del	DEL	ENST00000336470.4	37	c.1113_1115delGAA	CCDS14360.1																																																																																				0.557	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		8	459						8	459	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73047124	73047125	+	lincRNA	DEL	AC	AC	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chrX:73047124_73047125delAC	ENST00000604411.1	+	0	35085_35086				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		GCCACACATGACACACACACAC	0.47																																						ENST00000604411.1																			0																	21,2160		6,4,5,902,352						-3.8	0.0			146	63,3745		10,20,23,1404,917	no	intergenic				16,24,28,2306,1269	A1A1,A1R,A1,RR,R		1.6544,0.9629,1.4026				84,5905						0							g.chrX:73047124_73047125delAC			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73047134_73047135delAC						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	35085_35086	+									RNA	DEL	ENST00000604411.1	37																																																																																						0.470	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		10	630						10	630	---	---	---	---
PAK3	5063	broad.mit.edu	37	X	110406206	110406208	+	In_Frame_Del	DEL	GAA	GAA	-	rs374572591		TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chrX:110406206_110406208delGAA	ENST00000372010.1	+	10	1019_1021	c.577_579delGAA	c.(577-579)gaadel	p.E197del	PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000372007.5_In_Frame_Del_p.E182del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000519681.1_In_Frame_Del_p.E203del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.|Poly-Glu.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)																												ENST00000519681.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(595-597)del		p21 protein (Cdc42/Rac)-activated kinase 3																																				SO:0001651	inframe_deletion	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110406206_110406208delGAA	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.577_579delGAA	X.37:g.110406215_110406217delGAA	ENSP00000361080:p.Glu197del	TSP Lung(19;0.15)				PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del	p.E203del			O75914	PAK3_HUMAN			10	1037_1039	+			197			Linker.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	In_Frame_Del	DEL	ENST00000372010.1	37	c.595_597delGAA	CCDS48153.1																																																																																				0.394	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		7	748						7	748	---	---	---	---
MAP7D3	79649	broad.mit.edu	37	X	135314194	135314194	+	Frame_Shift_Del	DEL	G	G	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chrX:135314194delG	ENST00000316077.9	-	8	1142	c.922delC	c.(922-924)cagfs	p.Q308fs	MAP7D3_ENST00000370663.5_Frame_Shift_Del_p.Q290fs|MAP7D3_ENST00000370661.1_Frame_Shift_Del_p.Q273fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					ACATTCACCTGGGGGGGTGCA	0.532																																						ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(922-924)agfs		MAP7 domain containing 3							179.0	175.0	176.0					X																	135314194		2042	4171	6213	SO:0001589	frameshift_variant	79649					cytoplasm|spindle		g.chrX:135314194delG	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.922delC	X.37:g.135314194delG	ENSP00000318086:p.Gln308fs					MAP7D3_ENST00000370661.1_Frame_Shift_Del_p.Q273fs|MAP7D3_ENST00000370663.5_Frame_Shift_Del_p.Q290fs	p.Q308fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			8	1142	-	Acute lymphoblastic leukemia(192;0.000127)		308					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Frame_Shift_Del	DEL	ENST00000316077.9	37	c.922delC	CCDS44004.1																																																																																				0.532	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			8	1515						8	1515	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135455156	135455156	+	Frame_Shift_Del	DEL	G	G	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chrX:135455156delG	ENST00000394143.1	+	15	8000	c.7709delG	c.(7708-7710)cggfs	p.R2570fs	GPR112_ENST00000287534.4_Frame_Shift_Del_p.R2368fs|GPR112_ENST00000394141.1_Frame_Shift_Del_p.R2365fs|GPR112_ENST00000412101.1_Frame_Shift_Del_p.R2365fs|GPR112_ENST00000370652.1_Frame_Shift_Del_p.R2570fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2570					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R2570L(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GCTGTGCTGCGGGGGGACCAC	0.532																																						ENST00000394143.1																			1	Substitution - Missense(1)	p.R2570L(1)	lung(1)	NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(7708-7710)cgfs		G protein-coupled receptor 112							252.0	224.0	234.0					X																	135455156		2203	4300	6503	SO:0001589	frameshift_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135455156delG	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.7709delG	X.37:g.135455156delG	ENSP00000377699:p.Arg2570fs					GPR112_ENST00000394141.1_Frame_Shift_Del_p.R2365fs|GPR112_ENST00000370652.1_Frame_Shift_Del_p.R2570fs|GPR112_ENST00000287534.4_Frame_Shift_Del_p.R2368fs|GPR112_ENST00000412101.1_Frame_Shift_Del_p.R2365fs	p.R2570fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			15	8000	+	Acute lymphoblastic leukemia(192;0.000127)		2570					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Frame_Shift_Del	DEL	ENST00000394143.1	37	c.7709delG	CCDS35409.1																																																																																				0.532	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			7	1944						7	1944	---	---	---	---
SPANXN2	494119	broad.mit.edu	37	X	142803692	142803692	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chrX:142803692delT	ENST00000370498.1	-	1	824	c.71delA	c.(70-72)aatfs	p.N24fs		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	24										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TACCTCATCATTTTTTTTGTT	0.443																																						ENST00000370498.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(70-72)atfs		SPANX family, member N2				0,17,3704		0,0,0,1,12,3,1579,534	214.0	197.0	202.0			-0.2	0.0	X		204	1,105,6378		0,0,1,7,61,30,2288,1740	no	codingComplex	SPANXN2	NM_001009615.1		0,0,1,8,73,33,3867,2274	A1A1,A1A2,A1R,A2A2,A2R,A2,RR,R		1.6348,0.4569,1.2053			142803692	1,122,10082	2203	4300	6503	SO:0001589	frameshift_variant	494119							g.chrX:142803692delT		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.71delA	X.37:g.142803692delT	ENSP00000359529:p.Asn24fs						p.N24fs	NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN			1	824	-	Acute lymphoblastic leukemia(192;6.56e-05)		24					Q0ZNM2	Frame_Shift_Del	DEL	ENST00000370498.1	37	c.71delA	CCDS35419.1																																																																																				0.443	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		10	990						10	990	---	---	---	---
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	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		16	761						16	761	---	---	---	---
MAGEA10	4109	broad.mit.edu	37	X	151303906	151303908	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-3A-A9IN-01A-11D-A397-08	TCGA-3A-A9IN-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d19332b-2cfd-4fb7-85d9-96d08e5ba837	3f450d7d-d471-4b97-8a4c-696789306e4d	g.chrX:151303906_151303908delAGG	ENST00000370323.4	-	4	501_503	c.185_187delCCT	c.(184-189)tcctgc>tgc	p.S62del	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.S62del	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	62	Poly-Ser.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGATAGCaggaggaggagga	0.562																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(184-189)tgc>t		melanoma antigen family A, 10																																				SO:0001651	inframe_deletion	4109							g.chrX:151303906_151303908delAGG		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.185_187delCCT	X.37:g.151303915_151303917delAGG	ENSP00000359347:p.Ser62del					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		9	583						9	583	---	---	---	---
