#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KRT76	51350	broad.mit.edu	37	12	53170786	53170786	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:53170786C>A	ENST00000332411.2	-	1	343	c.290G>T	c.(289-291)gGc>gTc	p.G97V		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	97	Head.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						gcccccaaagccacctccata	0.617																																						ENST00000332411.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(289-291)gGc>gTc		keratin 76							213.0	243.0	233.0					12																	53170786		2203	4300	6503	SO:0001583	missense	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53170786C>A	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.290G>T	12.37:g.53170786C>A	ENSP00000330101:p.Gly97Val		Somatic					p.G97V	NM_015848.4	NP_056932.2	WXS	Illumina GAIIx	Phase_I	Q01546	K22O_HUMAN			1	343	-			97			Head.		B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	c.290G>T	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	c	12.48	1.951886	0.34471	.	.	ENSG00000185069	ENST00000332411	D	0.88741	-2.42	4.61	4.61	0.57282	.	0.000000	0.47455	D	0.000233	D	0.93439	0.7907	M	0.88906	2.99	0.80722	D	1	D	0.59767	0.986	P	0.56343	0.796	D	0.93590	0.6920	10	0.56958	D	0.05	.	13.1201	0.59321	0.0:0.9214:0.0:0.0786	.	97	Q01546	K22O_HUMAN	V	97	ENSP00000330101:G97V	ENSP00000330101:G97V	G	-	2	0	KRT76	51457053	0.004000	0.15560	1.000000	0.80357	0.294000	0.27393	1.484000	0.35508	2.844000	0.97970	0.650000	0.86243	GGC		0.617	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		5	95	1	0	1	1	1	5	95				
SLC43A1	8501	broad.mit.edu	37	11	57256464	57256464	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:57256464T>A	ENST00000278426.3	-	13	1691		c.e13-2		SLC43A1_ENST00000528450.1_Splice_Site|SLC43A1_ENST00000533515.1_5'Flank	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GGTCACAAACTAAAACCAAAA	0.532																																						ENST00000278426.3																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.e13-2		solute carrier family 43 (amino acid system L transporter), member 1							137.0	127.0	131.0					11																	57256464		2201	4296	6497	SO:0001630	splice_region_variant	8501				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity	g.chr11:57256464T>A	AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"""Solute carriers"""	9225	protein-coding gene	gene with protein product		603733	"""prostate cancer overexpressed gene 1"""	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.1336-2A>T	11.37:g.57256464T>A			Somatic				SLC43A1_ENST00000528450.1_Splice_Site		NM_003627.5	NP_003618.1	WXS	Illumina GAIIx	Phase_I	O75387	LAT3_HUMAN			13	1691	-									Splice_Site	SNP	ENST00000278426.3	37		CCDS7958.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.983519	0.35036	.	.	ENSG00000149150	ENST00000278426;ENST00000528450;ENST00000525764	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4082	0.60926	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC43A1	57013040	1.000000	0.71417	0.943000	0.38184	0.132000	0.20833	7.249000	0.78278	1.819000	0.53055	0.528000	0.53228	.		0.532	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392541.1	NM_003627	Intron	5	116	0	0	0	1	0	5	116				
PNO1	56902	broad.mit.edu	37	2	68389676	68389676	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:68389676A>T	ENST00000263657.2	+	5	593		c.e5-1		RP11-474G23.1_ENST00000406334.3_Intron	NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)							nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						TTTCTTGTTTAGTTAAACCCC	0.403																																					NSCLC(83;642 1410 13044 32832 40058)	ENST00000263657.2																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.e5-1		partner of NOB1 homolog (S. cerevisiae)							54.0	54.0	54.0					2																	68389676		2203	4300	6503	SO:0001630	splice_region_variant	56902					nucleolus	RNA binding	g.chr2:68389676A>T	AF164799	CCDS1885.1	2p14	2010-07-06			ENSG00000115946	ENSG00000115946			32790	protein-coding gene	gene with protein product	"""RNA binding protein"""		"""KH-type RNA binding protein 1"", ""KH-type RNA-binding protein 1"""	KHRBP1		15497447	Standard	NM_020143		Approved	RRP20	uc002seh.3	Q9NRX1	OTTHUMG00000129563	ENST00000263657.2:c.503-1A>T	2.37:g.68389676A>T			Somatic						NM_020143.2	NP_064528.1	WXS	Illumina GAIIx	Phase_I	Q9NRX1	PNO1_HUMAN			5	593	+								A8K6Q0|Q53G13|Q8WVB8	Splice_Site	SNP	ENST00000263657.2	37		CCDS1885.1	.	.	.	.	.	.	.	.	.	.	A	12.31	1.900827	0.33535	.	.	ENSG00000115946	ENST00000263657	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8008	0.23750	0.666:0.1316:0.0:0.2024	.	.	.	.	.	-1	.	.	.	+	.	.	PNO1	68243180	1.000000	0.71417	0.964000	0.40570	0.562000	0.35680	9.050000	0.93843	1.933000	0.56026	0.528000	0.53228	.		0.403	PNO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251756.1	NM_020143	Intron	4	85	0	0	0	1	0	4	85				
OR10X1	128367	broad.mit.edu	37	1	158549066	158549066	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:158549066A>T	ENST00000368150.1	-	1	623	c.624T>A	c.(622-624)agT>agA	p.S208R		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CTGTGTGGTTACTGTCTATAC	0.433																																						ENST00000368150.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(622-624)agT>agA		olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)							92.0	92.0	92.0					1																	158549066		2203	4300	6503	SO:0001583	missense	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158549066A>T	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.624T>A	1.37:g.158549066A>T	ENSP00000357132:p.Ser208Arg		Somatic					p.S208R	NM_001004477.1	NP_001004477.1	WXS	Illumina GAIIx	Phase_I	Q8NGY0	O10X1_HUMAN			1	623	-	all_hematologic(112;0.0378)		208					Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	c.624T>A	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	A	4.923	0.171414	0.09391	.	.	ENSG00000186400	ENST00000368150	T	0.00183	8.6	4.8	-1.88	0.07713	GPCR, rhodopsin-like superfamily (1);	0.106927	0.42294	D	0.000733	T	0.00039	0.0001	N	0.16201	0.385	0.09310	N	1	B	0.16166	0.016	B	0.17098	0.017	T	0.39461	-0.9613	10	0.66056	D	0.02	.	11.0649	0.47970	0.4975:0.0:0.5025:0.0	.	208	Q8NGY0	O10X1_HUMAN	R	208	ENSP00000357132:S208R	ENSP00000357132:S208R	S	-	3	2	OR10X1	156815690	0.000000	0.05858	0.276000	0.24689	0.005000	0.04900	-0.785000	0.04628	-0.224000	0.09928	-0.385000	0.06624	AGT		0.433	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		5	110	0	0	0	1	0	5	110				
TET3	200424	broad.mit.edu	37	2	74328497	74328497	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:74328497C>A	ENST00000409262.3	+	9	4177	c.4177C>A	c.(4177-4179)Ccc>Acc	p.P1393T		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1393					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTGGCTGGGCCCAGCCTGAC	0.637																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(4177-4179)Ccc>Acc		tet methylcytosine dioxygenase 3							25.0	32.0	30.0					2																	74328497		1889	4108	5997	SO:0001583	missense	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74328497C>A		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.4177C>A	2.37:g.74328497C>A	ENSP00000386869:p.Pro1393Thr		Somatic					p.P1393T	NM_144993.1	NP_659430.1	WXS	Illumina GAIIx	Phase_I	O43151	TET3_HUMAN			9	4177	+			1393					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.4177C>A	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	C	2.933	-0.220619	0.06061	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.14266	2.52	5.08	2.35	0.29111	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	1.107710	0.06792	N	0.787122	T	0.20659	0.0497	L	0.58101	1.795	0.47621	D	0.999478	P	0.47604	0.898	P	0.48089	0.566	T	0.08391	-1.0724	10	0.30854	T	0.27	.	7.6756	0.28484	0.0:0.666:0.0:0.334	.	1393	O43151	TET3_HUMAN	T	1393	ENSP00000386869:P1393T	ENSP00000233310:P1393T	P	+	1	0	TET3	74182005	0.018000	0.18449	0.915000	0.36163	0.086000	0.17979	-0.056000	0.11787	0.335000	0.23614	-0.136000	0.14681	CCC		0.637	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			6	74	1	0	2.80697e-09	1	3.01825e-09	6	74				
LARP4	113251	broad.mit.edu	37	12	50869645	50869645	+	Nonstop_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:50869645T>A	ENST00000398473.2	+	16	2285	c.2173T>A	c.(2173-2175)Taa>Aaa	p.*725K	LARP4_ENST00000429001.3_Nonstop_Mutation_p.*731K|LARP4_ENST00000347328.5_Nonstop_Mutation_p.*654K|LARP4_ENST00000518444.1_Nonstop_Mutation_p.*724K|LARP4_ENST00000293618.8_Nonstop_Mutation_p.*654K	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	0					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ATCACCAAAGTAAAAAACAAC	0.448																																						ENST00000398473.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						c.(2173-2175)Taa>Aaa		La ribonucleoprotein domain family, member 4							42.0	43.0	42.0					12																	50869645		1874	4108	5982	SO:0001578	stop_lost	113251						nucleotide binding|RNA binding	g.chr12:50869645T>A	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.2173T>A	12.37:g.50869645T>A	ENSP00000381490:p.*725Lysext*81		Somatic				LARP4_ENST00000518444.1_Nonstop_Mutation_p.*724K|LARP4_ENST00000429001.3_Nonstop_Mutation_p.*731K|LARP4_ENST00000293618.8_Nonstop_Mutation_p.*654K|LARP4_ENST00000347328.5_Nonstop_Mutation_p.*654K	p.*725K	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	WXS	Illumina GAIIx	Phase_I	Q71RC2	LARP4_HUMAN			16	2285	+			0					A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Nonstop_Mutation	SNP	ENST00000398473.2	37	c.2173T>A	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.942821	0.53079	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000518444;ENST00000520064;ENST00000347328	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.337	0.55073	0.0:0.0:0.141:0.859	.	.	.	.	K	654;731;725;724;606;654	.	.	X	+	1	0	LARP4	49155912	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	3.694000	0.54742	2.202000	0.70862	0.523000	0.50628	TAA		0.448	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		9	41	0	0	0	1	0	9	41				
ITGAV	3685	broad.mit.edu	37	2	187506111	187506111	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:187506111A>T	ENST00000261023.3	+	12	1230		c.e12-1		AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Splice_Site|ITGAV_ENST00000433736.2_Splice_Site	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V						angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	CTGTTCTTCTAGTTATGCAGA	0.433																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.e12-1		integrin, alpha V							102.0	91.0	95.0					2																	187506111		2203	4300	6503	SO:0001630	splice_region_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187506111A>T		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.957-1A>T	2.37:g.187506111A>T			Somatic				ITGAV_ENST00000433736.2_Splice_Site|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Splice_Site		NM_002210.3	NP_002201.1	WXS	Illumina GAIIx	Phase_I	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	12	1230	+								A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Splice_Site	SNP	ENST00000261023.3	37		CCDS2292.1	.	.	.	.	.	.	.	.	.	.	A	17.84	3.488166	0.64074	.	.	ENSG00000138448	ENST00000544640;ENST00000261023;ENST00000374907;ENST00000433736	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9822	0.80121	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITGAV	187214356	1.000000	0.71417	0.925000	0.36789	0.712000	0.41017	5.502000	0.66956	2.186000	0.69663	0.533000	0.62120	.		0.433	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210	Intron	6	151	0	0	0	1	0	6	151				
DDX42	11325	broad.mit.edu	37	17	61897195	61897195	+	IGR	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:61897195A>T	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Silent_p.R837R	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TTTGTTCCTTACGTTGCTGTG	0.537																																						ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(2509-2511)cgT>cgA		FtsJ homolog 3 (E. coli)							301.0	257.0	272.0					17																	61897195		2203	4300	6503	SO:0001628	intergenic_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61897195A>T	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61897195A>T			Somatic					p.R837R	NM_017647.3	NP_060117.3	WXS	Illumina GAIIx	Phase_I	Q8IY81	RRMJ3_HUMAN			21	3156	-			837					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Silent	SNP	ENST00000578681.1	37	c.2511T>A	CCDS32704.1																																																																																				0.537	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		30	881	0	0	0	1	0	30	881				
NBPF14	25832	broad.mit.edu	37	1	148012533	148012533	+	Missense_Mutation	SNP	T	T	G	rs144977899		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:148012533T>G	ENST00000369219.1	-	12	1442	c.1426A>C	c.(1426-1428)Aag>Cag	p.K476Q				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	476	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.E481D(1)|p.K476Q(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CCAACATGCTTTTCCTCCAAT	0.448																																						ENST00000369219.1																			2	Substitution - Missense(2)	p.E481D(1)|p.K476Q(1)	lung(2)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(1426-1428)Aag>Cag		neuroblastoma breakpoint family, member 14		T	GLN/LYS	149,1589		11,127,731	3.0	3.0	3.0		1426		0.0	1	dbSNP_134	3	199,3727		1,197,1765	no	missense	NBPF14	NM_015383.1	53	12,324,2496	GG,GT,TT		5.0688,8.5731,6.1441	benign	476/922	148012533	348,5316	869	1963	2832	SO:0001583	missense	25832					cytoplasm		g.chr1:148012533T>G	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1426A>C	1.37:g.148012533T>G	ENSP00000358221:p.Lys476Gln		Somatic					p.K476Q			WXS	Illumina GAIIx	Phase_I	Q5TI25	NBPFE_HUMAN			12	1442	-	all_hematologic(923;0.032)		476			NBPF 5.		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37	c.1426A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	0.001|0.001	-3.636353|-3.636353	0.00007|0.00007	0.085731|0.085731	0.050688|0.050688	ENSG00000122497|ENSG00000122497	ENST00000310701;ENST00000392972;ENST00000426874|ENST00000369219;ENST00000434489	.|T	.|0.05199	.|3.48	.|.	.|.	.|.	.|DUF1220 (2);	.|.	.|.	.|.	.|.	T|T	0.00468|0.00468	0.0015|0.0015	N|N	0.00104|0.00104	-2.125|-2.125	0.09310|0.09310	N|N	1|1	.|B;B;P	.|0.43431	.|0.001;0.005;0.807	.|B;B;P	.|0.53518	.|0.01;0.023;0.728	T|T	0.31138|0.31138	-0.9954|-0.9954	3|7	.|0.02654	.|T	.|1	.|.	.|.	.|.	.|.	.|.	.|143;590;476	.|E7EWM5;Q8IX74;Q5TI25	.|.;.;NBPFE_HUMAN	N|Q	481;486;486|476;141	.|ENSP00000358221:K476Q	.|ENSP00000358221:K476Q	K|K	-|-	3|1	2|0	NBPF14|NBPF14	146479157|146479157	0.953000|0.953000	0.32496|0.32496	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	-1.318000|-1.318000	0.02705|0.02705	-1.050000|-1.050000	0.03230|0.03230	-1.115000|-1.115000	0.02055|0.02055	AAA|AAG		0.448	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		13	989	0	0	0	1	0	13	989				
HMCN1	83872	broad.mit.edu	37	1	186092081	186092081	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:186092081A>T	ENST00000271588.4	+	81	12458		c.e81-1		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTATATTTTAGTTCCTCCAG	0.388																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.e81-1		hemicentin 1							67.0	64.0	65.0					1																	186092081		2203	4300	6503	SO:0001630	splice_region_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186092081A>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.12230-1A>T	1.37:g.186092081A>T			Somatic				HMCN1_ENST00000367492.2_Splice_Site		NM_031935.2	NP_114141.2	WXS	Illumina GAIIx	Phase_I	Q96RW7	HMCN1_HUMAN			81	12458	+								A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	SNP	ENST00000271588.4	37		CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.963601	0.74016	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4237	0.83790	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HMCN1	184358704	1.000000	0.71417	0.965000	0.40720	0.624000	0.37722	8.707000	0.91367	2.279000	0.76181	0.533000	0.62120	.		0.388	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Intron	5	125	0	0	0	1	0	5	125				
OR13A1	79290	broad.mit.edu	37	10	45799343	45799343	+	Silent	SNP	G	G	T	rs369918481		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:45799343G>T	ENST00000553795.1	-	4	836	c.528C>A	c.(526-528)atC>atA	p.I176I	OR13A1_ENST00000374401.2_Silent_p.I176I|OR13A1_ENST00000536058.1_Silent_p.I176I	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						GCCCCGTGTGGATGGCCGTGT	0.602																																						ENST00000553795.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						c.(526-528)atC>atA		olfactory receptor, family 13, subfamily A, member 1		G		0,4402		0,0,2201	41.0	43.0	42.0		528	-8.7	0.0	10		42	2,8592		0,2,4295	no	coding-synonymous	OR13A1	NM_001004297.2		0,2,6496	TT,TG,GG		0.0233,0.0,0.0154		176/329	45799343	2,12994	2201	4297	6498	SO:0001819	synonymous_variant	79290				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr10:45799343G>T	AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"""GPCR / Class A : Olfactory receptors"""	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.528C>A	10.37:g.45799343G>T			Somatic				OR13A1_ENST00000374401.2_Silent_p.I176I|OR13A1_ENST00000536058.1_Silent_p.I176I	p.I176I	NM_001004297.2	NP_001004297.2	WXS	Illumina GAIIx	Phase_I	Q8NGR1	O13A1_HUMAN			4	836	-			176					Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Silent	SNP	ENST00000553795.1	37	c.528C>A	CCDS31188.1																																																																																				0.602	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	NM_001004297		6	96	1	0	3.09899e-07	1	3.28514e-07	6	96				
UBR5	51366	broad.mit.edu	37	8	103317335	103317335	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr8:103317335A>T	ENST00000520539.1	-	21	3411	c.2805T>A	c.(2803-2805)aaT>aaA	p.N935K	UBR5_ENST00000220959.4_Missense_Mutation_p.N935K|UBR5_ENST00000521922.1_Missense_Mutation_p.N929K	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	935					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TAGTTTCTTTATTGCTGGTTG	0.358																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(2803-2805)aaT>aaA		ubiquitin protein ligase E3 component n-recognin 5							137.0	133.0	135.0					8																	103317335		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103317335A>T	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.2805T>A	8.37:g.103317335A>T	ENSP00000429084:p.Asn935Lys		Somatic				UBR5_ENST00000220959.4_Missense_Mutation_p.N935K|UBR5_ENST00000521922.1_Missense_Mutation_p.N929K	p.N935K	NM_015902.5	NP_056986.2	WXS	Illumina GAIIx	Phase_I	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		21	3411	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		935					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.2805T>A	CCDS34933.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.2|23.2	4.387229|4.387229	0.82902|0.82902	.|.	.|.	ENSG00000104517|ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922|ENST00000520898;ENST00000519365	T;T;T|.	0.49432|.	0.78;0.78;0.78|.	5.41|5.41	3.07|3.07	0.35406|0.35406	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.60117|.	0.2244|.	M|M	0.66297|0.66297	2.02|2.02	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.57899|.	0.981;0.981|.	D;D|.	0.65140|.	0.932;0.932|.	T|.	0.56842|.	-0.7912|.	10|.	0.87932|.	D|.	0|.	.|.	5.8283|5.8283	0.18566|0.18566	0.6161:0.0:0.3839:0.0|0.6161:0.0:0.3839:0.0	.|.	929;935|.	E7EMW7;O95071|.	.;UBR5_HUMAN|.	K|K	935;935;929|26;51	ENSP00000429084:N935K;ENSP00000220959:N935K;ENSP00000427819:N929K|.	ENSP00000220959:N935K|.	N|X	-|-	3|1	2|0	UBR5|UBR5	103386511|103386511	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	3.437000|3.437000	0.52863|0.52863	0.906000|0.906000	0.36621|0.36621	0.254000|0.254000	0.18369|0.18369	AAT|TAA		0.358	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		5	219	0	0	0	1	0	5	219				
ZNF564	163050	broad.mit.edu	37	19	12637723	12637723	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:12637723C>T	ENST00000339282.7	-	4	1395	c.1199G>A	c.(1198-1200)aGa>aAa	p.R400K	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.21_ENST00000601420.1_RNA|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	400					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(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GTCAAAGGCTCTACCACATAC	0.433																																						ENST00000339282.7																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(1198-1200)aGa>aAa		zinc finger protein 564							140.0	144.0	143.0					19																	12637723		2203	4300	6503	SO:0001583	missense	163050							g.chr19:12637723C>T	BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"""Zinc fingers, C2H2-type"", ""-"""	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.1199G>A	19.37:g.12637723C>T	ENSP00000340004:p.Arg400Lys		Somatic				CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	p.R400K	NM_144976.3	NP_659413.1	WXS	Illumina GAIIx	Phase_I					4	1395	-								B9EGT4|Q6P1K6	Missense_Mutation	SNP	ENST00000339282.7	37	c.1199G>A	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	C	7.051	0.564517	0.13498	.	.	ENSG00000249709	ENST00000339282	T	0.07114	3.22	1.56	0.263	0.15602	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01661	0.0053	N	0.00605	-1.335	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.46414	-0.9193	9	0.02654	T	1	.	5.0091	0.14302	0.0:0.2327:0.0:0.7673	.	400	Q8TBZ8	ZN564_HUMAN	K	400	ENSP00000340004:R400K	ENSP00000340004:R400K	R	-	2	0	ZNF564	12498723	0.565000	0.26610	0.010000	0.14722	0.890000	0.51754	0.515000	0.22801	0.050000	0.15949	0.643000	0.83706	AGA		0.433	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976		5	356	0	0	0	1	0	5	356				
FGFR1	2260	broad.mit.edu	37	8	38272312	38272312	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr8:38272312A>T	ENST00000447712.2	-	14	2903	c.1962T>A	c.(1960-1962)taT>taA	p.Y654*	FGFR1_ENST00000356207.5_Nonsense_Mutation_p.Y565*|FGFR1_ENST00000341462.5_Nonsense_Mutation_p.Y654*|FGFR1_ENST00000335922.5_Nonsense_Mutation_p.Y644*|FGFR1_ENST00000397113.2_Nonsense_Mutation_p.Y652*|FGFR1_ENST00000397103.1_Nonsense_Mutation_p.Y565*|FGFR1_ENST00000532791.1_Nonsense_Mutation_p.Y652*|FGFR1_ENST00000397108.4_Nonsense_Mutation_p.Y652*|FGFR1_ENST00000425967.3_Nonsense_Mutation_p.Y685*|FGFR1_ENST00000326324.6_Nonsense_Mutation_p.Y563*|FGFR1_ENST00000397091.5_Nonsense_Mutation_p.Y652*	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	654	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TTGTCTTTTTATAGTAGTCGA	0.557		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)	ENST00000447712.2		1		Dom	yes		8	8p11.2-p11.1	2260	T	fibroblast growth factor receptor 1	yes	"""Pfeiffer syndrome, Kallman syndrome"""	L	"""BCR, FOP, ZNF198, CEP1"""		"""MPD, NHL"""	FGFR1/ZNF703(2)	0				breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50						c.(1960-1962)taT>taA		fibroblast growth factor receptor 1	Palifermin(DB00039)						125.0	130.0	129.0					8																	38272312		2097	4256	6353	SO:0001587	stop_gained	2260				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	g.chr8:38272312A>T	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.1962T>A	8.37:g.38272312A>T	ENSP00000400162:p.Tyr654*		Somatic				FGFR1_ENST00000397091.5_Nonsense_Mutation_p.Y652*|FGFR1_ENST00000397108.4_Nonsense_Mutation_p.Y652*|FGFR1_ENST00000425967.3_Nonsense_Mutation_p.Y685*|FGFR1_ENST00000356207.5_Nonsense_Mutation_p.Y565*|FGFR1_ENST00000397113.2_Nonsense_Mutation_p.Y652*|FGFR1_ENST00000397103.1_Nonsense_Mutation_p.Y565*|FGFR1_ENST00000341462.5_Nonsense_Mutation_p.Y654*|FGFR1_ENST00000335922.5_Nonsense_Mutation_p.Y644*|FGFR1_ENST00000532791.1_Nonsense_Mutation_p.Y652*|FGFR1_ENST00000326324.6_Nonsense_Mutation_p.Y563*	p.Y654*	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	WXS	Illumina GAIIx	Phase_I	P11362	FGFR1_HUMAN	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		14	2903	-	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	654			Protein kinase.		A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Nonsense_Mutation	SNP	ENST00000447712.2	37	c.1962T>A	CCDS6107.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	43|43	9.975289|9.975289	0.99308|0.99308	.|.	.|.	ENSG00000077782|ENSG00000077782	ENST00000310729|ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108	.|.	.|.	.|.	5.9|5.9	-4.29|-4.29	0.03721|0.03721	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	17.5108|17.5108	0.87759|0.87759	0.1875:0.0:0.8125:0.0|0.1875:0.0:0.8125:0.0	.|.	.|.	.|.	.|.	K|X	663|652;685;654;654;652;652;565;644;563;565;652	.|.	.|.	X|Y	-|-	1|3	0|2	FGFR1|FGFR1	38391469|38391469	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.862000|0.862000	0.49288|0.49288	1.521000|1.521000	0.35910|0.35910	-0.674000|-0.674000	0.05253|0.05253	0.482000|0.482000	0.46254|0.46254	TAA|TAT		0.557	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				8	405	0	0	0	1	0	8	405				
SLC22A5	6584	broad.mit.edu	37	5	131722793	131722793	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:131722793G>A	ENST00000245407.3	+	5	1122	c.901G>A	c.(901-903)Gcc>Acc	p.A301T	SLC22A5_ENST00000435065.2_Missense_Mutation_p.A325T	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	301			A -> D (in CDSP; has 2-3% residual carnitine transport of the value measured in cells expressing the wild-type protein). {ECO:0000269|PubMed:11058897, ECO:0000269|PubMed:15714519}.		carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	CCGCAAGGCTGCCAAAGCCAA	0.537											OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000245407.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8						c.(901-903)Gcc>Acc		solute carrier family 22 (organic cation/carnitine transporter), member 5	L-Carnitine(DB00583)						300.0	257.0	271.0					5																	131722793		2203	4300	6503	SO:0001583	missense	6584				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131722793G>A	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"""Solute carriers"""	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.901G>A	5.37:g.131722793G>A	ENSP00000245407:p.Ala301Thr		Somatic	OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1589	SLC22A5_ENST00000435065.2_Missense_Mutation_p.A325T	p.A301T	NM_003060.3	NP_003051.1	WXS	Illumina GAIIx	Phase_I	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	1122	+		all_cancers(142;0.0751)|Breast(839;0.198)	301		A -> D (in CDSP; has 2-3% residual carnitine transport of the value measured in cells expressing the wild-type protein).			A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Missense_Mutation	SNP	ENST00000245407.3	37	c.901G>A	CCDS4154.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500556	0.85176	.	.	ENSG00000197375	ENST00000245407;ENST00000435065;ENST00000415928	T;T;T	0.74002	-0.8;-0.8;0.27	5.4	5.4	0.78164	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.100031	0.64402	D	0.000002	D	0.89511	0.6736	M	0.91872	3.25	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.79108	0.982;0.992	D	0.91605	0.5298	10	0.87932	D	0	.	19.1739	0.93594	0.0:0.0:1.0:0.0	.	325;301	A2Q0V1;O76082	.;S22A5_HUMAN	T	301;325;224	ENSP00000245407:A301T;ENSP00000402760:A325T;ENSP00000388838:A224T	ENSP00000245407:A301T	A	+	1	0	SLC22A5	131750692	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	9.386000	0.97228	2.533000	0.85409	0.563000	0.77884	GCC		0.537	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060		8	1032	0	0	0	1	0	8	1032				
BCORL1	63035	broad.mit.edu	37	X	129148444	129148444	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:129148444C>A	ENST00000218147.7	+	4	1893	c.1696C>A	c.(1696-1698)Cct>Act	p.P566T	BCORL1_ENST00000359304.2_Missense_Mutation_p.P566T|BCORL1_ENST00000303743.5_Missense_Mutation_p.P566T|BCORL1_ENST00000540052.1_Missense_Mutation_p.P566T			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	566	Pro-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P566T(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AACTCCACAGCCTCTGCTGCC	0.632																																						ENST00000540052.1																			1	Substitution - Missense(1)	p.P566T(1)	kidney(1)	breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(1696-1698)Cct>Act		BCL6 corepressor-like 1							62.0	63.0	63.0					X																	129148444		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129148444C>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.1696C>A	X.37:g.129148444C>A	ENSP00000218147:p.Pro566Thr		Somatic				BCORL1_ENST00000218147.7_Missense_Mutation_p.P566T|BCORL1_ENST00000303743.5_Missense_Mutation_p.P566T|BCORL1_ENST00000359304.2_Missense_Mutation_p.P566T	p.P566T	NM_021946.4	NP_068765.3	WXS	Illumina GAIIx	Phase_I	Q5H9F3	BCORL_HUMAN			3	1740	+			566			Pro-rich.		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.1696C>A	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	13.06|13.06	2.124434|2.124434	0.37533|0.37533	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000441294|ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	.|T;T;T;T;T	.|0.39787	.|1.08;1.45;1.06;1.08;1.53	5.68|5.68	4.82|4.82	0.62117|0.62117	.|.	.|0.226622	.|0.22716	.|N	.|0.056518	T|T	0.24774|0.24774	0.0601|0.0601	N|N	0.24115|0.24115	0.695|0.695	0.30479|0.30479	N|N	0.772511|0.772511	.|B;P	.|0.43094	.|0.015;0.799	.|B;B	.|0.38378	.|0.013;0.272	T|T	0.14337|0.14337	-1.0476|-1.0476	5|10	.|0.32370	.|T	.|0.25	-3.5471|-3.5471	5.7611|5.7611	0.18201|0.18201	0.1233:0.6012:0.1987:0.0768|0.1233:0.6012:0.1987:0.0768	.|.	.|566;566	.|Q5H9F3-2;Q5H9F3	.|.;BCORL_HUMAN	D|T	1|566;566;566;566;166	.|ENSP00000218147:P566T;ENSP00000307541:P566T;ENSP00000352253:P566T;ENSP00000437775:P566T;ENSP00000399483:P166T	.|ENSP00000218147:P566T	A|P	+|+	2|1	0|0	BCORL1|BCORL1	128976125|128976125	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	0.698000|0.698000	0.25571|0.25571	1.183000|1.183000	0.42943|0.42943	0.525000|0.525000	0.51046|0.51046	GCC|CCT		0.632	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		55	74	1	0	2.80097e-13	1	3.07798e-13	55	74				
TTC22	55001	broad.mit.edu	37	1	55251692	55251692	+	Silent	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:55251692T>C	ENST00000371276.4	-	5	1087	c.984A>G	c.(982-984)ccA>ccG	p.P328P	TTC22_ENST00000371274.4_Silent_p.P328P	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	328								p.P328P(2)		kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						AGTTGAGTTCTGGATCTCGTA	0.552																																						ENST00000371276.4																			2	Substitution - coding silent(2)	p.P328P(2)	kidney(2)	kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						c.(982-984)ccA>ccG		tetratricopeptide repeat domain 22							77.0	71.0	73.0					1																	55251692		2203	4300	6503	SO:0001819	synonymous_variant	55001						binding	g.chr1:55251692T>C	AK000626	CCDS598.1, CCDS44152.1	1p32.3	2013-01-11			ENSG00000006555	ENSG00000006555		"""Tetratricopeptide (TTC) repeat domain containing"""	26067	protein-coding gene	gene with protein product							Standard	NM_017904		Approved	FLJ20619	uc009vzt.1	Q5TAA0	OTTHUMG00000009916	ENST00000371276.4:c.984A>G	1.37:g.55251692T>C			Somatic				TTC22_ENST00000371274.4_Silent_p.P328P	p.P328P	NM_001114108.1	NP_001107580.1	WXS	Illumina GAIIx	Phase_I	Q5TAA0	TTC22_HUMAN			5	1087	-			328					Q9NWT4	Silent	SNP	ENST00000371276.4	37	c.984A>G	CCDS44152.1																																																																																				0.552	TTC22-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027438.1	NM_017904		24	72	0	0	0	1	0	24	72				
WDR93	56964	broad.mit.edu	37	15	90281337	90281337	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr15:90281337A>T	ENST00000268130.7	+	16	1932	c.1831A>T	c.(1831-1833)Aat>Tat	p.N611Y	WDR93_ENST00000444934.2_Missense_Mutation_p.N328Y|WDR93_ENST00000560294.1_Missense_Mutation_p.N583Y	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	611					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TTTCTATTTTAATTTTGAGGC	0.443																																						ENST00000268130.7																			0				NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33						c.(1831-1833)Aat>Tat		WD repeat domain 93							240.0	248.0	245.0					15																	90281337		2200	4299	6499	SO:0001583	missense	56964				electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH	g.chr15:90281337A>T		CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"""WD repeat domain containing"""	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.1831A>T	15.37:g.90281337A>T	ENSP00000268130:p.Asn611Tyr		Somatic				WDR93_ENST00000560294.1_Missense_Mutation_p.N583Y|WDR93_ENST00000444934.2_Missense_Mutation_p.N328Y	p.N611Y	NM_020212.1	NP_064597.1	WXS	Illumina GAIIx	Phase_I	Q6P2C0	WDR93_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		16	1932	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		611					Q8N7Y8|Q9NP89	Missense_Mutation	SNP	ENST00000268130.7	37	c.1831A>T	CCDS32326.1	.	.	.	.	.	.	.	.	.	.	A	16.65	3.183119	0.57800	.	.	ENSG00000140527	ENST00000268130;ENST00000444934	T;T	0.47869	1.83;0.83	5.0	1.02	0.19986	.	0.229124	0.30060	N	0.010510	T	0.54838	0.1883	M	0.61703	1.905	0.26237	N	0.978936	D;D	0.63880	0.982;0.993	P;P	0.62740	0.868;0.906	T	0.39482	-0.9612	10	0.54805	T	0.06	-13.9356	5.2329	0.15432	0.5534:0.3506:0.096:0.0	.	583;611	Q6P2C0-2;Q6P2C0	.;WDR93_HUMAN	Y	611;328	ENSP00000268130:N611Y;ENSP00000403871:N328Y	ENSP00000268130:N611Y	N	+	1	0	WDR93	88082341	0.007000	0.16637	0.938000	0.37757	0.950000	0.60333	-0.062000	0.11674	0.738000	0.32606	0.529000	0.55759	AAT		0.443	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416369.1	NM_020212		8	571	0	0	0	1	0	8	571				
CDK14	5218	broad.mit.edu	37	7	90547013	90547013	+	Missense_Mutation	SNP	C	C	A	rs376270298		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:90547013C>A	ENST00000380050.3	+	8	931	c.800C>A	c.(799-801)aCg>aAg	p.T267K	CDK14_ENST00000436577.2_Missense_Mutation_p.T138K|CDK14_ENST00000406263.1_Missense_Mutation_p.T221K|CDK14_ENST00000265741.3_Missense_Mutation_p.T249K			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	267	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						ATCAGTGACACGGGGGAGTTA	0.448																																					GBM(83;1228 1256 8311 16577 31299)	ENST00000406263.1																			0				breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						c.(661-663)aCg>aAg		cyclin-dependent kinase 14							122.0	120.0	121.0					7																	90547013		2203	4300	6503	SO:0001583	missense	5218				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:90547013C>A		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.800C>A	7.37:g.90547013C>A	ENSP00000369390:p.Thr267Lys		Somatic				CDK14_ENST00000265741.3_Missense_Mutation_p.T249K|CDK14_ENST00000436577.2_Missense_Mutation_p.T138K|CDK14_ENST00000380050.3_Missense_Mutation_p.T267K	p.T221K			WXS	Illumina GAIIx	Phase_I	O94921	CDK14_HUMAN			7	1104	+			267			Protein kinase.		A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Missense_Mutation	SNP	ENST00000380050.3	37	c.662C>A		.	.	.	.	.	.	.	.	.	.	C	9.730	1.162017	0.21538	.	.	ENSG00000058091	ENST00000380050;ENST00000265741;ENST00000406263;ENST00000436577	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.51	4.62	0.57501	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.114864	0.56097	D	0.000029	T	0.16214	0.0390	N	0.02345	-0.59	0.45594	D	0.998535	B;P;B	0.42123	0.028;0.771;0.028	B;B;B	0.38842	0.068;0.283;0.068	T	0.26467	-1.0102	10	0.02654	T	1	-10.886	13.7233	0.62743	0.0:0.926:0.0:0.074	.	138;249;267	E7EUK8;O94921-2;O94921	.;.;CDK14_HUMAN	K	267;249;221;138	ENSP00000369390:T267K;ENSP00000265741:T249K;ENSP00000385034:T221K;ENSP00000398936:T138K	ENSP00000265741:T249K	T	+	2	0	CDK14	90384949	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.889000	0.39718	2.592000	0.87571	0.591000	0.81541	ACG		0.448	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	NM_012395		4	253	1	0	1.23904e-05	1	1.29969e-05	4	253				
CELA2A	63036	broad.mit.edu	37	1	15798500	15798500	+	Nonstop_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:15798500T>A	ENST00000359621.4	+	8	833	c.808T>A	c.(808-810)Taa>Aaa	p.*270K	CELA2B_ENST00000494280.1_Intron	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	0						extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						TGCAAATAACTAACCAAAAGA	0.433																																						ENST00000359621.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						c.(808-810)Taa>Aaa		chymotrypsin-like elastase family, member 2A							146.0	136.0	140.0					1																	15798500		2203	4300	6503	SO:0001578	stop_lost	63036				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15798500T>A		CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"""elastase 2A"""	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.808T>A	1.37:g.15798500T>A	ENSP00000352639:p.*270Lysext*23		Somatic				CELA2B_ENST00000494280.1_Intron	p.*270K	NM_033440.2	NP_254275.1	WXS	Illumina GAIIx	Phase_I	P08217	CEL2A_HUMAN			8	833	+			0					B2R5I4|Q14243	Nonstop_Mutation	SNP	ENST00000359621.4	37	c.808T>A	CCDS157.1	.	.	.	.	.	.	.	.	.	.	T	8.163	0.789995	0.16258	.	.	ENSG00000142615	ENST00000359621	.	.	.	2.78	2.78	0.32641	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3187	0.26515	0.0:0.0:0.0:1.0	.	.	.	.	K	270	.	.	X	+	1	0	CELA2A	15671087	1.000000	0.71417	0.892000	0.35008	0.507000	0.33981	1.685000	0.37659	1.262000	0.44165	0.163000	0.16589	TAA		0.433	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006445.1	NM_033440		5	164	0	0	0	1	0	5	164				
CALCR	799	broad.mit.edu	37	7	93108678	93108678	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:93108678A>T	ENST00000394441.1	-	3	508	c.193T>A	c.(193-195)Tac>Aac	p.Y65N	CALCR_ENST00000359558.2_Missense_Mutation_p.Y83N|CALCR_ENST00000426151.1_Missense_Mutation_p.Y65N|CALCR_ENST00000360249.4_Missense_Mutation_p.Y65N|CALCR_ENST00000421592.1_Missense_Mutation_p.Y65N	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	83					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)	TCTCCTTGGTATGCGGGTAAC	0.368																																						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.(247-249)Tac>Aac		calcitonin receptor	Salmon Calcitonin(DB00017)						257.0	244.0	248.0					7																	93108678		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.chr7:93108678A>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.193T>A	7.37:g.93108678A>T	ENSP00000377959:p.Tyr65Asn		Somatic				CALCR_ENST00000426151.1_Missense_Mutation_p.Y65N|CALCR_ENST00000394441.1_Missense_Mutation_p.Y65N|CALCR_ENST00000360249.4_Missense_Mutation_p.Y65N|CALCR_ENST00000421592.1_Missense_Mutation_p.Y65N	p.Y83N	NM_001164737.1	NP_001158209.1	WXS	Illumina GAIIx	Phase_I	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		5	546	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		65					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.247T>A	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	A	9.336	1.061807	0.19987	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	5.22	4.06	0.47325	.	.	.	.	.	T	0.47857	0.1468	M	0.61703	1.905	0.52099	D	0.999949	B;B	0.22211	0.066;0.024	B;B	0.21151	0.033;0.014	T	0.40683	-0.9550	9	0.32370	T	0.25	.	10.5342	0.44994	0.8378:0.1622:0.0:0.0	.	83;65	F5H605;A4D1G6	.;.	N	83;65;65;65;65;65	ENSP00000352561:Y83N;ENSP00000353385:Y65N;ENSP00000399552:Y65N;ENSP00000377959:Y65N;ENSP00000389295:Y65N	ENSP00000352561:Y83N	Y	-	1	0	CALCR	92946614	0.996000	0.38824	0.567000	0.28434	0.206000	0.24218	3.399000	0.52586	1.106000	0.41623	0.533000	0.62120	TAC		0.368	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		5	350	0	0	0	1	0	5	350				
ZNF749	388567	broad.mit.edu	37	19	57955937	57955937	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:57955937A>G	ENST00000334181.4	+	3	1671	c.1421A>G	c.(1420-1422)aAg>aGg	p.K474R	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	474					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K387R(1)|p.K474R(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		ATTCAACACAAGAGGATTGAC	0.448																																						ENST00000334181.4																			2	Substitution - Missense(2)	p.K387R(1)|p.K474R(1)	kidney(2)	breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(1420-1422)aAg>aGg		zinc finger protein 749							85.0	79.0	81.0					19																	57955937		2203	4300	6503	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57955937A>G	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1421A>G	19.37:g.57955937A>G	ENSP00000333980:p.Lys474Arg		Somatic				AC004076.9_ENST00000596831.1_Intron	p.K474R	NM_001023561.2	NP_001018855.2	WXS	Illumina GAIIx	Phase_I	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	1671	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	474						Missense_Mutation	SNP	ENST00000334181.4	37	c.1421A>G	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	A	8.042	0.763991	0.15914	.	.	ENSG00000186230	ENST00000334181	T	0.15017	2.46	0.894	0.894	0.19242	.	.	.	.	.	T	0.07728	0.0194	N	0.11364	0.135	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.31364	-0.9946	9	0.42905	T	0.14	.	3.7157	0.08437	0.5932:0.4067:0.0:1.0E-4	.	474	O43361	ZN749_HUMAN	R	474	ENSP00000333980:K474R	ENSP00000333980:K474R	K	+	2	0	ZNF749	62647749	0.187000	0.23238	0.002000	0.10522	0.001000	0.01503	-0.365000	0.07573	0.639000	0.30564	0.377000	0.23210	AAG		0.448	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		178	327	0	0	0	1	0	178	327				
CDC42EP3	10602	broad.mit.edu	37	2	37873692	37873692	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:37873692A>T	ENST00000295324.3	-	2	1039	c.39T>A	c.(37-39)aaT>aaA	p.N13K	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.4	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	13					regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	cytoskeletal regulatory protein binding (GO:0005519)			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				CTTTCTTGTTATTGGCTGCTT	0.448																																						ENST00000295324.3																			0				endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11						c.(37-39)aaT>aaA		CDC42 effector protein (Rho GTPase binding) 3							149.0	158.0	155.0					2																	37873692		2203	4300	6503	SO:0001583	missense	10602				regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding	g.chr2:37873692A>T	AF094521	CCDS1791.1	2p21	2008-05-21			ENSG00000163171	ENSG00000163171			16943	protein-coding gene	gene with protein product		606133				9535835, 11035016	Standard	NM_001270436		Approved	CEP3, UB1, BORG2	uc031rnz.1	Q9UKI2	OTTHUMG00000100971	ENST00000295324.3:c.39T>A	2.37:g.37873692A>T	ENSP00000295324:p.Asn13Lys		Somatic				AC006369.2_ENST00000419425.1_RNA	p.N13K	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.3	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	WXS	Illumina GAIIx	Phase_I	Q9UKI2	BORG2_HUMAN			2	1039	-		all_hematologic(82;0.172)	13					B2R8S0|O95353|Q9UQJ0	Missense_Mutation	SNP	ENST00000295324.3	37	c.39T>A	CCDS1791.1	.	.	.	.	.	.	.	.	.	.	A	14.33	2.503776	0.44558	.	.	ENSG00000163171	ENST00000295324;ENST00000457889;ENST00000453555;ENST00000422687	T	0.30182	1.54	5.91	1.41	0.22369	.	0.140322	0.64402	D	0.000007	T	0.13841	0.0335	N	0.14661	0.345	0.39142	D	0.962061	P	0.37781	0.608	B	0.32864	0.154	T	0.12142	-1.0559	10	0.27082	T	0.32	-32.0066	8.7333	0.34512	0.3633:0.0:0.6367:0.0	.	13	Q9UKI2	BORG2_HUMAN	K	13	ENSP00000295324:N13K	ENSP00000295324:N13K	N	-	3	2	CDC42EP3	37727196	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.828000	0.27435	0.582000	0.29556	0.533000	0.62120	AAT		0.448	CDC42EP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218581.3	NM_006449		5	208	0	0	0	1	0	5	208				
SEMA6C	10500	broad.mit.edu	37	1	151109450	151109450	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:151109450T>G	ENST00000341697.3	-	11	2548	c.857A>C	c.(856-858)aAc>aCc	p.N286T				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	286	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GACAGAGCAGTTGAGCCGAAG	0.572																																						ENST00000341697.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(856-858)aAc>aCc		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C							107.0	114.0	112.0					1																	151109450		2203	4300	6503	SO:0001583	missense	10500					integral to membrane	receptor activity	g.chr1:151109450T>G	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.857A>C	1.37:g.151109450T>G	ENSP00000344148:p.Asn286Thr		Somatic					p.N286T			WXS	Illumina GAIIx	Phase_I	Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		11	2548	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		286			Sema.		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	c.857A>C	CCDS984.1	.	.	.	.	.	.	.	.	.	.	T	19.96	3.923496	0.73213	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697;ENST00000392792	T;T;T;T	0.11821	2.74;2.74;2.74;2.74	4.69	4.69	0.59074	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.29491	0.0735	M	0.83312	2.635	0.47584	D	0.999465	D;D;D;D	0.89917	1.0;0.996;1.0;0.999	D;D;D;D	0.97110	1.0;0.986;1.0;0.996	T	0.08126	-1.0737	10	0.56958	D	0.05	.	12.154	0.54066	0.0:0.0:0.0:1.0	.	286;246;286;286	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	T	286;246;286;286;286	ENSP00000357910:N286T;ENSP00000357908:N246T;ENSP00000357909:N286T;ENSP00000344148:N286T	ENSP00000344148:N286T	N	-	2	0	SEMA6C	149376074	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.982000	0.70532	1.971000	0.57363	0.459000	0.35465	AAC		0.572	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		6	419	0	0	0	1	0	6	419				
EP300	2033	broad.mit.edu	37	22	41566408	41566408	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:41566408A>T	ENST00000263253.7	+	27	5505		c.e27-1		RNU6-375P_ENST00000517050.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300						apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TTGTATTGTTAGTTACACAAC	0.383			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.e27-1		E1A binding protein p300							109.0	99.0	102.0					22																	41566408		2203	4300	6503	SO:0001630	splice_region_variant	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41566408A>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4287-1A>T	22.37:g.41566408A>T			Somatic				RP1-85F18.6_ENST00000415054.1_RNA		NM_001429.3	NP_001420.2	WXS	Illumina GAIIx	Phase_I	Q09472	EP300_HUMAN			27	5505	+								B1AKC2	Splice_Site	SNP	ENST00000263253.7	37		CCDS14010.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.946030	0.73672	.	.	ENSG00000100393	ENST00000263253	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2125	0.48806	0.8466:0.1534:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EP300	39896354	1.000000	0.71417	0.662000	0.29724	0.510000	0.34073	9.237000	0.95368	2.121000	0.65114	0.533000	0.62120	.		0.383	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	Intron	7	181	0	0	0	1	0	7	181				
ITIH6	347365	broad.mit.edu	37	X	54785300	54785300	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:54785300C>T	ENST00000218436.6	-	8	1236	c.1207G>A	c.(1207-1209)Ggc>Agc	p.G403S		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	403	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G403S(1)									GTCGTCACGCCGGCCGTGGGC	0.597																																						ENST00000218436.6																			1	Substitution - Missense(1)	p.G403S(1)	kidney(1)								c.(1207-1209)Ggc>Agc		inter-alpha-trypsin inhibitor heavy chain family, member 6							56.0	44.0	48.0					X																	54785300		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54785300C>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.1207G>A	X.37:g.54785300C>T	ENSP00000218436:p.Gly403Ser		Somatic					p.G403S	NM_198510.2	NP_940912.1	WXS	Illumina GAIIx	Phase_I	Q6UXX5	ITH5L_HUMAN			8	1236	-			403			VWFA.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.1207G>A	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637957	0.29157	.	.	ENSG00000102313	ENST00000218436	T	0.03745	3.82	3.78	1.99	0.26369	von Willebrand factor, type A (3);	0.069948	0.56097	U	0.000027	T	0.07188	0.0182	M	0.77406	2.37	0.21697	N	0.999583	P	0.40970	0.734	B	0.42112	0.376	T	0.12528	-1.0544	10	0.49607	T	0.09	.	8.4301	0.32753	0.0:0.7908:0.0:0.2092	.	403	Q6UXX5	ITH5L_HUMAN	S	403	ENSP00000218436:G403S	ENSP00000218436:G403S	G	-	1	0	ITIH5L	54802025	0.809000	0.29036	0.000000	0.03702	0.000000	0.00434	2.195000	0.42677	0.038000	0.15604	-0.180000	0.13094	GGC		0.597	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		58	112	0	0	0	1	0	58	112				
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G	rs369741558		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1				BMS1 pseudogene 20																		CAGATCAAGAAAGCACTCTGA	0.498																																						ENST00000426066.1																			0																																																			96610							g.chr22:22664186A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664186A>G			Somatic						NR_027293.1		WXS	Illumina GAIIx	Phase_I					0	709	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	335	0	0	0	1	0	4	335				
PKD2	5311	broad.mit.edu	37	4	88967931	88967931	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr4:88967931A>T	ENST00000237596.2	+	6	1523	c.1457A>T	c.(1456-1458)tAc>tTc	p.Y486F	PKD2_ENST00000508588.1_Intron	NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TTTATCTTTTACTATGTGGTG	0.383																																						ENST00000237596.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36						c.(1456-1458)tAc>tTc		polycystic kidney disease 2 (autosomal dominant)							209.0	193.0	198.0					4																	88967931		2203	4300	6503	SO:0001583	missense	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88967931A>T	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.1457A>T	4.37:g.88967931A>T	ENSP00000237596:p.Tyr486Phe		Somatic				PKD2_ENST00000508588.1_Intron	p.Y486F	NM_000297.3	NP_000288.1	WXS	Illumina GAIIx	Phase_I	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	6	1523	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	486					Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000237596.2	37	c.1457A>T	CCDS3627.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.486666	0.84854	.	.	ENSG00000118762	ENST00000237596	D	0.96992	-4.2	5.62	5.62	0.85841	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.96219	0.8767	L	0.59967	1.855	0.80722	D	1	B	0.25486	0.127	B	0.40134	0.32	D	0.95130	0.8254	10	0.62326	D	0.03	-20.057	15.8159	0.78599	1.0:0.0:0.0:0.0	.	486	Q13563	PKD2_HUMAN	F	486	ENSP00000237596:Y486F	ENSP00000237596:Y486F	Y	+	2	0	PKD2	89186955	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.296000	0.96104	2.133000	0.65898	0.482000	0.46254	TAC		0.383	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253042.4	NM_000297		10	229	0	0	0	1	0	10	229				
SLITRK3	22865	broad.mit.edu	37	3	164908473	164908473	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:164908473T>C	ENST00000475390.1	-	2	589	c.146A>G	c.(145-147)tAc>tGc	p.Y49C	SLITRK3_ENST00000241274.3_Missense_Mutation_p.Y49C			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	49					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AACTTCACAGTAGCATGGATC	0.388										HNSCC(40;0.11)																												ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(145-147)tAc>tGc		SLIT and NTRK-like family, member 3							119.0	121.0	120.0					3																	164908473		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164908473T>C	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.146A>G	3.37:g.164908473T>C	ENSP00000420091:p.Tyr49Cys	HNSCC(40;0.11)	Somatic				SLITRK3_ENST00000241274.3_Missense_Mutation_p.Y49C	p.Y49C			WXS	Illumina GAIIx	Phase_I	O94933	SLIK3_HUMAN			2	589	-			49					Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.146A>G	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	T	13.96	2.391930	0.42410	.	.	ENSG00000121871	ENST00000475390;ENST00000241274;ENST00000497724	T;T;D	0.83506	0.67;0.67;-1.73	6.01	6.01	0.97437	.	0.000000	0.34338	N	0.004042	D	0.87700	0.6243	L	0.49126	1.545	0.41954	D	0.990675	D	0.76494	0.999	P	0.62885	0.908	D	0.87007	0.2120	10	0.39692	T	0.17	-17.4297	16.5237	0.84324	0.0:0.0:0.0:1.0	.	49	O94933	SLIK3_HUMAN	C	49	ENSP00000420091:Y49C;ENSP00000241274:Y49C;ENSP00000419611:Y49C	ENSP00000241274:Y49C	Y	-	2	0	SLITRK3	166391167	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.181000	0.58303	2.306000	0.77630	0.533000	0.62120	TAC		0.388	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		3	153	0	0	0	1	0	3	153				
ST18	9705	broad.mit.edu	37	8	53077787	53077787	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr8:53077787T>A	ENST00000276480.7	-	12	1888		c.e12-2			NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger						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)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGCAAGAACTAAGCACAAAA	0.428																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.e12-2		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							157.0	150.0	152.0					8																	53077787		2203	4300	6503	SO:0001630	splice_region_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53077787T>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1205-2A>T	8.37:g.53077787T>A			Somatic						NM_014682.2	NP_055497.1	WXS	Illumina GAIIx	Phase_I	O60284	ST18_HUMAN			12	1888	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)						Q17RY1	Splice_Site	SNP	ENST00000276480.7	37		CCDS6149.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.797320	0.90538	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3526	0.83220	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ST18	53240340	1.000000	0.71417	0.968000	0.41197	0.966000	0.64601	7.903000	0.87398	2.255000	0.74692	0.533000	0.62120	.		0.428	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		Intron	8	284	0	0	0	1	0	8	284				
DIS3L2	129563	broad.mit.edu	37	2	232952199	232952199	+	Silent	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:232952199A>T	ENST00000409307.1	+	5	369	c.369A>T	c.(367-369)gtA>gtT	p.V123V	DIS3L2_ENST00000409401.3_Silent_p.V123V|DIS3L2_ENST00000470087.1_3'UTR|DIS3L2_ENST00000360410.4_Silent_p.V123V|DIS3L2_ENST00000273009.6_Silent_p.V123V|DIS3L2_ENST00000325385.7_Silent_p.V123V					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TTCTTTAGGTAGTTAAACCAG	0.393																																						ENST00000325385.7																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40						c.(367-369)gtA>gtT		DIS3 mitotic control homolog (S. cerevisiae)-like 2							37.0	38.0	38.0					2																	232952199		1835	4103	5938	SO:0001819	synonymous_variant	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:232952199A>T	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.369A>T	2.37:g.232952199A>T			Somatic				DIS3L2_ENST00000273009.6_Silent_p.V123V|DIS3L2_ENST00000470087.1_3'UTR|DIS3L2_ENST00000409401.3_Silent_p.V123V|DIS3L2_ENST00000409307.1_Silent_p.V123V|DIS3L2_ENST00000360410.4_Silent_p.V123V	p.V123V	NM_152383.4	NP_689596.4	WXS	Illumina GAIIx	Phase_I	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	6	645	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	123						Silent	SNP	ENST00000409307.1	37	c.369A>T	CCDS42834.1																																																																																				0.393	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		5	68	0	0	0	1	0	5	68				
IPO13	9670	broad.mit.edu	37	1	44425962	44425962	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:44425962G>A	ENST00000372343.3	+	12	2732	c.2070G>A	c.(2068-2070)aaG>aaA	p.K690K		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	690					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K690K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TTATCCAGAAGGTGCTGAGCA	0.562																																						ENST00000372343.3																			1	Substitution - coding silent(1)	p.K690K(1)	kidney(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2068-2070)aaG>aaA		importin 13							324.0	267.0	286.0					1																	44425962		2203	4300	6503	SO:0001819	synonymous_variant	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44425962G>A	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.2070G>A	1.37:g.44425962G>A			Somatic					p.K690K	NM_014652.3	NP_055467.3	WXS	Illumina GAIIx	Phase_I	O94829	IPO13_HUMAN			12	2732	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	690					D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Silent	SNP	ENST00000372343.3	37	c.2070G>A	CCDS503.1																																																																																				0.562	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		25	534	0	0	0	1	0	25	534				
PTK2	5747	broad.mit.edu	37	8	141727751	141727751	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr8:141727751T>A	ENST00000522684.1	-	23	2317	c.2088A>T	c.(2086-2088)agA>agT	p.R696S	PTK2_ENST00000519465.1_Missense_Mutation_p.R324S|PTK2_ENST00000517887.1_Missense_Mutation_p.R740S|PTK2_ENST00000340930.3_Missense_Mutation_p.R696S|PTK2_ENST00000519419.1_Missense_Mutation_p.R740S|PTK2_ENST00000535192.1_Missense_Mutation_p.R696S|PTK2_ENST00000538769.1_Missense_Mutation_p.R364S|PTK2_ENST00000521059.1_Missense_Mutation_p.R696S|PTK2_ENST00000430260.2_Missense_Mutation_p.R6S|PTK2_ENST00000395218.2_Missense_Mutation_p.R696S	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	696					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)	p.R718S(1)|p.R696S(1)|p.R648S(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TGGCCTGTCTTCTGGACTCCA	0.537																																						ENST00000522684.1																			3	Substitution - Missense(3)	p.R718S(1)|p.R696S(1)|p.R648S(1)	kidney(3)	breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48						c.(2086-2088)agA>agT		protein tyrosine kinase 2							169.0	141.0	151.0					8																	141727751		2203	4300	6503	SO:0001583	missense	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141727751T>A	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.2088A>T	8.37:g.141727751T>A	ENSP00000429911:p.Arg696Ser		Somatic				PTK2_ENST00000519465.1_Missense_Mutation_p.R324S|PTK2_ENST00000535192.1_Missense_Mutation_p.R696S|PTK2_ENST00000519419.1_Missense_Mutation_p.R740S|PTK2_ENST00000340930.3_Missense_Mutation_p.R696S|PTK2_ENST00000521059.1_Missense_Mutation_p.R696S|PTK2_ENST00000395218.2_Missense_Mutation_p.R696S|PTK2_ENST00000538769.1_Missense_Mutation_p.R364S|PTK2_ENST00000430260.2_Missense_Mutation_p.R6S|PTK2_ENST00000517887.1_Missense_Mutation_p.R740S	p.R696S	NM_153831.3	NP_722560.1	WXS	Illumina GAIIx	Phase_I	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		23	2317	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	696					B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.2088A>T	CCDS6381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.8|26.8	4.776662|4.776662	0.90195|0.90195	.|.	.|.	ENSG00000169398|ENSG00000169398	ENST00000519654|ENST00000522684;ENST00000535192;ENST00000519465;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000430260;ENST00000521986;ENST00000522424;ENST00000521562;ENST00000523388	.|T;T;T;T;T;T;T;T;T;T;T;T	.|0.76839	.|-1.04;-1.05;-1.01;-1.05;-1.04;-1.05;-1.01;-1.05;-1.01;-1.05;0.26;-1.02	5.62|5.62	2.03|2.03	0.26663|0.26663	.|Protein kinase-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.83138	.|0.5189	M|M	0.75777|0.75777	2.31|2.31	0.52099|0.52099	D|D	0.99994|0.99994	.|P;B;P;D;D;D;P;P;D;D	.|0.67145	.|0.594;0.444;0.952;0.994;0.996;0.993;0.952;0.846;0.991;0.991	.|B;B;P;D;D;P;P;P;P;P	.|0.74348	.|0.164;0.206;0.703;0.983;0.94;0.777;0.703;0.687;0.885;0.885	.|T	.|0.79438	.|-0.1803	.|10	.|0.51188	.|T	.|0.08	.|.	4.2646|4.2646	0.10757|0.10757	0.0:0.368:0.1854:0.4466|0.0:0.368:0.1854:0.4466	.|.	.|696;391;616;696;718;696;648;544;364;324	.|B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q05397-2;Q8N9D7;E9PEI4	.|.;.;.;FAK1_HUMAN;.;.;.;.;.;.	X|S	707|696;696;324;740;696;648;696;617;391;368;696;364;740;6;394;6;6;6	.|ENSP00000429911:R696S;ENSP00000438009:R696S;ENSP00000429170:R324S;ENSP00000429082:R740S;ENSP00000429474:R696S;ENSP00000378644:R696S;ENSP00000428492:R368S;ENSP00000341189:R696S;ENSP00000445742:R364S;ENSP00000429129:R740S;ENSP00000403416:R6S;ENSP00000430603:R394S	.|ENSP00000341189:R696S	K|R	-|-	1|3	0|2	PTK2|PTK2	141796933|141796933	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.183000|2.183000	0.42565|0.42565	0.423000|0.423000	0.26033|0.26033	0.528000|0.528000	0.53228|0.53228	AAG|AGA		0.537	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		141	293	0	0	0	1	0	141	293				
MEI1	150365	broad.mit.edu	37	22	42180387	42180387	+	Silent	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:42180387T>C	ENST00000401548.3	+	25	3172	c.3132T>C	c.(3130-3132)gcT>gcC	p.A1044A	MEI1_ENST00000476893.1_3'UTR|MEI1_ENST00000300398.4_Silent_p.A52A|MEI1_ENST00000400107.1_Silent_p.A377A	NM_152513.3	NP_689726.3			meiosis inhibitor 1									p.A1050A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TATTGAAGGCTCTCAGCTTTC	0.493																																						ENST00000401548.3																			1	Substitution - coding silent(1)	p.A1050A(1)	kidney(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(3130-3132)gcT>gcC		meiosis inhibitor 1							73.0	72.0	72.0					22																	42180387		1889	4109	5998	SO:0001819	synonymous_variant	150365						binding	g.chr22:42180387T>C	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.3132T>C	22.37:g.42180387T>C			Somatic				MEI1_ENST00000400107.1_Silent_p.A377A|MEI1_ENST00000300398.4_Silent_p.A52A|MEI1_ENST00000476893.1_3'UTR	p.A1044A	NM_152513.3	NP_689726.3	WXS	Illumina GAIIx	Phase_I	Q5TIA1	MEI1_HUMAN			25	3172	+			1044						Silent	SNP	ENST00000401548.3	37	c.3132T>C	CCDS46718.1																																																																																				0.493	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		53	87	0	0	0	1	0	53	87				
TCL6	27004	broad.mit.edu	37	14	96134618	96134618	+	RNA	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr14:96134618C>T	ENST00000467865.1	+	0	1821				RP11-1070N10.6_ENST00000461160.1_RNA					T-cell leukemia/lymphoma 6 (non-protein coding)											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		TGCAGCAGTCCATTGACCAAT	0.517			T	TRA@	T-ALL																																	ENST00000467865.1				Dom	yes		14	14q32.1	27004	T	T-cell leukemia/lymphoma 6			L	TRA@		T-ALL		0				large_intestine(1)|lung(7)	8															145.0	116.0	125.0					14																	96134618		2203	4300	6503			27004							g.chr14:96134618C>T	AB035338		14q32.1	2012-10-16	2010-06-01		ENSG00000187621	ENSG00000187621		"""Long non-coding RNAs"""	13463	non-coding RNA	RNA, long non-coding		604412	"""T-cell leukemia/lymphoma 6"""			10588720, 10851082	Standard	NR_028288		Approved	TCL6e1, TNG2, TNG1	uc001yev.2		OTTHUMG00000149979		14.37:g.96134618C>T			Somatic				RP11-1070N10.6_ENST00000461160.1_RNA				WXS	Illumina GAIIx	Phase_I				Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)	0	1821	+		all_cancers(154;0.103)							RNA	SNP	ENST00000467865.1	37																																																																																						0.517	TCL6-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000315133.1	NM_012468		4	231	0	0	0	1	0	4	231				
VPS52	6293	broad.mit.edu	37	6	33235518	33235518	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:33235518T>A	ENST00000445902.2	-	10	1152		c.e10-2		VPS52_ENST00000436044.2_Splice_Site|VPS52_ENST00000482399.1_Splice_Site|VPS52_ENST00000478934.1_Intron	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)						ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TTCCTCATACTAAGGAAAGAG	0.473																																						ENST00000482399.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.e9-2		vacuolar protein sorting 52 homolog (S. cerevisiae)							237.0	250.0	245.0					6																	33235518		1511	2709	4220	SO:0001630	splice_region_variant	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33235518T>A	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.934-2A>T	6.37:g.33235518T>A			Somatic				VPS52_ENST00000445902.2_Splice_Site|VPS52_ENST00000436044.2_Splice_Site|VPS52_ENST00000478934.1_Intron				WXS	Illumina GAIIx	Phase_I	Q8N1B4	VPS52_HUMAN			9	1530	-								A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Splice_Site	SNP	ENST00000445902.2	37		CCDS4770.2	.	.	.	.	.	.	.	.	.	.	T	17.78	3.473735	0.63737	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4855	0.55871	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	VPS52	33343496	1.000000	0.71417	0.941000	0.38009	0.845000	0.48019	6.085000	0.71343	2.273000	0.75805	0.523000	0.50628	.		0.473	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553	Intron	6	538	0	0	0	1	0	6	538				
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	NDUFS1_ENST00000423725.1_5'Flank|EEF1B2_ENST00000392221.1_Silent_p.P45P|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|EEF1B2_ENST00000236957.5_Silent_p.P45P|NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|SNORD51_ENST00000384320.2_RNA|SNORA41_ENST00000384675.1_RNA	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448																																						ENST00000392222.2																			5	Substitution - coding silent(5)	p.P45P(5)	kidney(2)|endometrium(2)|lung(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(133-135)ccG>ccA		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025366		2203	4300	6503	SO:0001819	synonymous_variant	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025366G>A	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.135G>A	2.37:g.207025366G>A			Somatic				EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P	p.P45P	NM_001959.3	NP_001950.1	WXS	Illumina GAIIx	Phase_I	P24534	EF1B_HUMAN			2	510	+			45			GST C-terminal.		A8K795|Q6IBH9	Silent	SNP	ENST00000392222.2	37	c.135G>A	CCDS2367.1																																																																																				0.448	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		4	48	0	0	0	1	0	4	48				
SMG7	9887	broad.mit.edu	37	1	183495729	183495729	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:183495729A>T	ENST00000347615.2	+	5	431		c.e5-1		SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000367537.3_Splice_Site|SMG7_ENST00000456731.2_Splice_Site|SMG7_ENST00000515829.2_Splice_Site	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor						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)			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						TTTTTCTTTTAGTTATTACAA	0.333																																						ENST00000367537.3																			0				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.e6-1		SMG7 nonsense mediated mRNA decay factor							70.0	75.0	74.0					1																	183495729		2203	4300	6503	SO:0001630	splice_region_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.chr1:183495729A>T	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.313-1A>T	1.37:g.183495729A>T			Somatic				SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000347615.2_Splice_Site|SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000456731.2_Splice_Site|SMG7_ENST00000507469.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q92540	SMG7_HUMAN			6	594	+								B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Splice_Site	SNP	ENST00000347615.2	37		CCDS1355.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.464105	0.63513	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1025	0.81194	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMG7	181762352	1.000000	0.71417	0.974000	0.42286	0.892000	0.51952	8.638000	0.91019	2.254000	0.74563	0.533000	0.62120	.		0.333	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837	Intron	9	102	0	0	0	1	0	9	102				
PBRM1	55193	broad.mit.edu	37	3	52649373	52649373	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:52649373T>A	ENST00000296302.7	-	15	1919	c.1918A>T	c.(1918-1920)Aag>Tag	p.K640*	PBRM1_ENST00000409767.1_Nonsense_Mutation_p.K655*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.K640*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.K608*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.K655*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.K640*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.K640*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.K640*			Q86U86	PB1_HUMAN	polybromo 1	640					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.K640*(2)|p.K608*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTACTCAGCTTGAGTTTGGGA	0.363			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		3	Substitution - Nonsense(3)	p.K640*(2)|p.K608*(1)	kidney(3)	breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(1822-1824)Aag>Tag		polybromo 1							104.0	92.0	96.0					3																	52649373		2203	4300	6503	SO:0001587	stop_gained	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52649373T>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1918A>T	3.37:g.52649373T>A	ENSP00000296302:p.Lys640*		Somatic				PBRM1_ENST00000337303.4_Nonsense_Mutation_p.K640*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.K640*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.K640*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.K655*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.K655*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.K640*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.K640*	p.K608*			WXS	Illumina GAIIx	Phase_I	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	14	1824	-			640			Bromo 4.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37	c.1822A>T		.	.	.	.	.	.	.	.	.	.	T	41	8.978253	0.99023	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-65.5612	16.19	0.81981	0.0:0.0:0.0:1.0	.	.	.	.	X	608;640;640;640;640;640;655;655;640;599	.	ENSP00000296302:K640X	K	-	1	0	PBRM1	52624413	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.040000	0.89188	2.225000	0.72522	0.460000	0.39030	AAG		0.363	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		11	41	0	0	0	1	0	11	41				
ATG12	9140	broad.mit.edu	37	5	115177150	115177150	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:115177150G>C	ENST00000509910.1	-	1	405	c.100C>G	c.(100-102)Ccc>Gcc	p.P34A	ATG12_ENST00000274459.4_Missense_Mutation_p.P81A|ATG12_ENST00000500945.2_Missense_Mutation_p.P34A|ATG12_ENST00000509598.1_5'Flank|AP3S1_ENST00000316788.7_5'Flank			O94817	ATG12_HUMAN	autophagy related 12	34					autophagic vacuole assembly (GO:0000045)|C-terminal protein lipidation (GO:0006501)|cellular response to nitrogen starvation (GO:0006995)|innate immune response (GO:0045087)|mitochondrion degradation (GO:0000422)|negative regulation of type I interferon production (GO:0032480)|nucleophagy (GO:0044804)	Atg12-Atg5-Atg16 complex (GO:0034274)|pre-autophagosomal structure membrane (GO:0034045)	Atg8 ligase activity (GO:0019776)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		GAAGACGGGGGCTCCGGGGTG	0.567																																						ENST00000509910.1																			0				endometrium(2)|kidney(1)|lung(1)|prostate(1)	5						c.(100-102)Ccc>Gcc		autophagy related 12							53.0	60.0	58.0					5																	115177150		2202	4300	6502	SO:0001583	missense	9140				autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding	g.chr5:115177150G>C	AB017507	CCDS4122.1, CCDS4122.2, CCDS64222.1	5q21-q22	2014-02-12	2012-06-06	2005-09-11	ENSG00000145782	ENSG00000145782			588	protein-coding gene	gene with protein product	"""APG12 autophagy 12-like"""	609608	"""Apg12 (autophagy 12, S. cerevisiae)-like"", ""APG12 autophagy 12-like (S. cerevisiae)"", ""ATG12 autophagy related 12 homolog (S. cerevisiae)"""	APG12L		9852036	Standard	NM_004707		Approved	APG12	uc003krh.3	O94817	OTTHUMG00000128889	ENST00000509910.1:c.100C>G	5.37:g.115177150G>C	ENSP00000425107:p.Pro34Ala		Somatic				ATG12_ENST00000500945.2_Missense_Mutation_p.P34A|ATG12_ENST00000274459.4_Missense_Mutation_p.P81A	p.P34A			WXS	Illumina GAIIx	Phase_I	O94817	ATG12_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)	1	405	-		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	34					Q6PJV2	Missense_Mutation	SNP	ENST00000509910.1	37	c.100C>G	CCDS4122.2	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950494	0.34377	.	.	ENSG00000145782	ENST00000274459;ENST00000509910;ENST00000500945	.	.	.	4.3	3.41	0.39046	.	0.257566	0.31636	N	0.007314	T	0.52008	0.1708	M	0.69823	2.125	0.41770	D	0.989762	P;B	0.42908	0.793;0.295	B;B	0.37550	0.253;0.091	T	0.51060	-0.8753	9	0.30854	T	0.27	-12.6849	10.6523	0.45655	0.0:0.0:0.8075:0.1925	.	34;81	O94817;C1IDX9	ATG12_HUMAN;.	A	81;34;34	.	ENSP00000274459:P81A	P	-	1	0	ATG12	115205049	1.000000	0.71417	0.788000	0.31933	0.035000	0.12851	3.730000	0.55006	0.784000	0.33661	-0.182000	0.12963	CCC		0.567	ATG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250851.3	NM_004707		8	80	0	0	0	1	0	8	80				
PER2	8864	broad.mit.edu	37	2	239161812	239161812	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:239161812C>T	ENST00000254657.3	-	19	3131	c.2852G>A	c.(2851-2853)aGc>aAc	p.S951N	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	951	Interaction with PPARG. {ECO:0000250|UniProtKB:O54943}.|Pro-rich.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CGAGGTCCGGCTGGGGAACTC	0.662																																						ENST00000254657.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2851-2853)aGc>aAc		period circadian clock 2							50.0	52.0	51.0					2																	239161812		2203	4300	6503	SO:0001583	missense	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239161812C>T	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.2852G>A	2.37:g.239161812C>T	ENSP00000254657:p.Ser951Asn		Somatic				AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	p.S951N	NM_022817.2	NP_073728.1	WXS	Illumina GAIIx	Phase_I	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	19	3131	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	951			Pro-rich.		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.2852G>A	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	C	3.860	-0.030127	0.07543	.	.	ENSG00000132326	ENST00000254657	T	0.11495	2.77	4.24	-0.0782	0.13716	.	3.562460	0.01549	U	0.019593	T	0.07954	0.0199	L	0.36672	1.1	0.09310	N	1	B;B	0.26002	0.139;0.139	B;B	0.17433	0.018;0.018	T	0.25572	-1.0128	10	0.15066	T	0.55	-0.3932	2.2996	0.04159	0.1538:0.5083:0.1505:0.1873	.	951;951	B4DH14;O15055	.;PER2_HUMAN	N	951	ENSP00000254657:S951N	ENSP00000254657:S951N	S	-	2	0	PER2	238826551	0.000000	0.05858	0.003000	0.11579	0.321000	0.28281	0.379000	0.20585	0.135000	0.18707	0.655000	0.94253	AGC		0.662	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		3	84	0	0	0	1	0	3	84				
OTUD3	23252	broad.mit.edu	37	1	20230758	20230758	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:20230758A>T	ENST00000375120.3	+	5	607		c.e5-1			NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3						protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGTTTCCTTTAGTTTCAGATG	0.338																																						ENST00000375120.3																			0				breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9						c.e5-1		OTU domain containing 3							67.0	63.0	64.0					1																	20230758		1829	4082	5911	SO:0001630	splice_region_variant	23252							g.chr1:20230758A>T	AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"""OTU domain containing"""	29038	protein-coding gene	gene with protein product		611758	"""OTU domain containing 3"""			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.607-1A>T	1.37:g.20230758A>T			Somatic						NM_015207.1	NP_056022.1	WXS	Illumina GAIIx	Phase_I	Q5T2D3	OTUD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	5	607	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)						O75047	Splice_Site	SNP	ENST00000375120.3	37		CCDS41279.1	.	.	.	.	.	.	.	.	.	.	A	16.74	3.207867	0.58343	.	.	ENSG00000169914	ENST00000375120	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9564	0.35820	0.9111:0.0:0.0889:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OTUD3	20103345	0.999000	0.42202	1.000000	0.80357	0.886000	0.51366	1.421000	0.34815	1.874000	0.54306	0.482000	0.46254	.		0.338	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007655.1		Intron	4	33	0	0	0	1	0	4	33				
MUC16	94025	broad.mit.edu	37	19	9048933	9048933	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:9048933G>C	ENST00000397910.4	-	5	32901	c.32698C>G	c.(32698-32700)Cct>Gct	p.P10900A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10902	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						GGTTCACCAGGAGAAAGAGTC	0.493																																						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.(32698-32700)Cct>Gct		mucin 16, cell surface associated							122.0	109.0	113.0					19																	9048933		1903	4131	6034	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9048933G>C	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.32698C>G	19.37:g.9048933G>C	ENSP00000381008:p.Pro10900Ala		Somatic					p.P10900A	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			5	32901	-			10902			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.32698C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.649	-0.071836	0.07228	.	.	ENSG00000181143	ENST00000397910	T	0.03094	4.05	3.18	-1.84	0.07809	.	.	.	.	.	T	0.03390	0.0098	L	0.48642	1.525	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.44283	-0.9338	8	0.87932	D	0	.	1.6095	0.02690	0.1273:0.1352:0.3405:0.397	.	10900	B5ME49	.	A	10900	ENSP00000381008:P10900A	ENSP00000381008:P10900A	P	-	1	0	MUC16	8909933	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.232000	0.02936	-0.350000	0.08262	-1.606000	0.00808	CCT		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	983	0	0	0	1	0	7	983				
TBC1D8B	54885	broad.mit.edu	37	X	106109045	106109045	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:106109045A>T	ENST00000357242.5	+	16	2618	c.2444A>T	c.(2443-2445)tAt>tTt	p.Y815F	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.Y809F	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	815							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTATCTTGTTATTGGTGTTTG	0.343																																						ENST00000357242.5																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2443-2445)tAt>tTt		TBC1 domain family, member 8B (with GRAM domain)							128.0	118.0	121.0					X																	106109045		2203	4300	6503	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106109045A>T	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.2444A>T	X.37:g.106109045A>T	ENSP00000349781:p.Tyr815Phe		Somatic				TBC1D8B_ENST00000276175.3_Missense_Mutation_p.Y809F	p.Y815F	NM_017752.2	NP_060222.2	WXS	Illumina GAIIx	Phase_I	Q0IIM8	TBC8B_HUMAN			16	2618	+			815					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.2444A>T	CCDS14522.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.5|23.5	4.420514|4.420514	0.83559|0.83559	.|.	.|.	ENSG00000133138|ENSG00000133138	ENST00000431860|ENST00000357242;ENST00000276175;ENST00000394972	.|T;T	.|0.59364	.|0.27;0.27	5.59|5.59	5.59|5.59	0.84812|0.84812	.|EF-hand-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76076|0.76076	0.3937|0.3937	M|M	0.83483|0.83483	2.645|2.645	0.53005|0.53005	D|D	0.999963|0.999963	.|D	.|0.71674	.|0.998	.|D	.|0.77004	.|0.989	T|T	0.76528|0.76528	-0.2926|-0.2926	5|10	.|0.33141	.|T	.|0.24	-5.6795|-5.6795	13.501|13.501	0.61454|0.61454	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|815	.|Q0IIM8	.|TBC8B_HUMAN	F|F	77|815;809;77	.|ENSP00000349781:Y815F;ENSP00000276175:Y809F	.|ENSP00000276175:Y809F	L|Y	+|+	3|2	2|0	TBC1D8B|TBC1D8B	105995701|105995701	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	8.962000|8.962000	0.93254|0.93254	1.868000|1.868000	0.54150|0.54150	0.412000|0.412000	0.27726|0.27726	TTA|TAT		0.343	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		16	291	0	0	0	1	0	16	291				
HERC1	8925	broad.mit.edu	37	15	63915942	63915942	+	Silent	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr15:63915942G>T	ENST00000443617.2	-	73	13680	c.13593C>A	c.(13591-13593)acC>acA	p.T4531T		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4531	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.T4531T(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCTCTGTGATGGTGTCATCAA	0.522																																						ENST00000443617.2																			2	Substitution - coding silent(2)	p.T4531T(2)	kidney(2)	NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(13591-13593)acC>acA		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							122.0	122.0	122.0					15																	63915942		2066	4225	6291	SO:0001819	synonymous_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63915942G>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13593C>A	15.37:g.63915942G>T			Somatic					p.T4531T	NM_003922.3	NP_003913.3	WXS	Illumina GAIIx	Phase_I	Q15751	HERC1_HUMAN			73	13680	-			4531			HECT.		Q8IW65	Silent	SNP	ENST00000443617.2	37	c.13593C>A	CCDS45277.1																																																																																				0.522	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		209	294	1	0	5.12032e-141	1	5.84067e-141	209	294				
MKL1	57591	broad.mit.edu	37	22	40859228	40859228	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:40859228G>A	ENST00000355630.3	-	4	594	c.4C>T	c.(4-6)Ccg>Tcg	p.P2S	MKL1_ENST00000402042.1_Missense_Mutation_p.P2S|MKL1_ENST00000402630.1_Missense_Mutation_p.P2S|MKL1_ENST00000407029.1_Missense_Mutation_p.P2S|MKL1_ENST00000396617.3_Missense_Mutation_p.P2S	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	2	Mediates interaction with SCAI and ACTB. {ECO:0000250}.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.P2S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CACTTACGCGGCATGATCCCT	0.527			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		1	Substitution - Missense(1)	p.P2S(1)	kidney(1)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(4-6)Ccg>Tcg		megakaryoblastic leukemia (translocation) 1							213.0	181.0	192.0					22																	40859228		2203	4300	6503	SO:0001583	missense	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40859228G>A	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.4C>T	22.37:g.40859228G>A	ENSP00000347847:p.Pro2Ser		Somatic				MKL1_ENST00000402630.1_Missense_Mutation_p.P2S|MKL1_ENST00000402042.1_Missense_Mutation_p.P2S|MKL1_ENST00000355630.3_Missense_Mutation_p.P2S|MKL1_ENST00000407029.1_Missense_Mutation_p.P2S	p.P2S			WXS	Illumina GAIIx	Phase_I	Q969V6	MKL1_HUMAN			4	594	-			2			Mediates interaction with SCAI and ACTB (By similarity).		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.4C>T	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	G	32	5.162926	0.94727	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029;ENST00000402630;ENST00000422851	D;D;D;D;D;D	0.99833	-7.03;-7.03;-7.03;-7.03;-7.03;-7.03	5.87	5.87	0.94306	.	0.070502	0.56097	D	0.000024	D	0.99775	0.9907	M	0.78456	2.415	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.64144	0.922;0.921;0.922	D	0.97564	1.0100	10	0.87932	D	0	.	18.7629	0.91860	0.0:0.0:1.0:0.0	.	2;2;2	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	S	2;2;2;2;2;29	ENSP00000347847:P2S;ENSP00000379861:P2S;ENSP00000385584:P2S;ENSP00000385835:P2S;ENSP00000385076:P2S;ENSP00000398478:P29S	ENSP00000347847:P2S	P	-	1	0	MKL1	39189174	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.733000	0.91539	2.941000	0.99782	0.655000	0.94253	CCG		0.527	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		5	708	0	0	0	1	0	5	708				
ARID1A	8289	broad.mit.edu	37	1	27099852	27099852	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:27099852C>A	ENST00000324856.7	+	15	4102	c.3731C>A	c.(3730-3732)cCc>cAc	p.P1244H	ARID1A_ENST00000457599.2_Missense_Mutation_p.P1244H|ARID1A_ENST00000374152.2_Missense_Mutation_p.P861H|ARID1A_ENST00000540690.1_5'UTR	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1244					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.P1244H(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGGAGTGATCCCTTCATGTCC	0.592			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	1	Substitution - Missense(1)	p.P1244H(1)	kidney(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(3730-3732)cCc>cAc		AT rich interactive domain 1A (SWI-like)							61.0	62.0	62.0					1																	27099852		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27099852C>A	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3731C>A	1.37:g.27099852C>A	ENSP00000320485:p.Pro1244His		Somatic				ARID1A_ENST00000374152.2_Missense_Mutation_p.P861H|ARID1A_ENST00000457599.2_Missense_Mutation_p.P1244H|ARID1A_ENST00000540690.1_5'UTR	p.P1244H	NM_006015.4	NP_006006.3	WXS	Illumina GAIIx	Phase_I	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	15	4102	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1244					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.3731C>A	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.826931	0.50739	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.02709	4.43;4.19;4.24	5.02	5.02	0.67125	.	0.055152	0.85682	D	0.000000	T	0.04497	0.0123	L	0.40543	1.245	0.80722	D	1	B;B;B;B	0.18461	0.004;0.016;0.028;0.016	B;B;B;B	0.14578	0.006;0.005;0.011;0.005	T	0.44128	-0.9348	10	0.62326	D	0.03	-4.3543	18.5413	0.91029	0.0:1.0:0.0:0.0	.	861;1244;1244;897	O14497-3;O14497;O14497-2;Q4LE49	.;ARI1A_HUMAN;.;.	H	1244;1244;861	ENSP00000320485:P1244H;ENSP00000387636:P1244H;ENSP00000363267:P861H	ENSP00000320485:P1244H	P	+	2	0	ARID1A	26972439	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.709000	0.68384	2.627000	0.88993	0.655000	0.94253	CCC		0.592	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		103	189	1	0	2.52883e-43	1	2.83078e-43	103	189				
RP1	6101	broad.mit.edu	37	8	55542223	55542223	+	Silent	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr8:55542223C>G	ENST00000220676.1	+	4	5929	c.5781C>G	c.(5779-5781)ccC>ccG	p.P1927P		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1927					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.P1927P(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTATCCAACCCATGAATGAGG	0.353																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			1	Substitution - coding silent(1)	p.P1927P(1)	lung(1)	NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(5779-5781)ccC>ccG		retinitis pigmentosa 1 (autosomal dominant)							82.0	82.0	82.0					8																	55542223		2203	4299	6502	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55542223C>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5781C>G	8.37:g.55542223C>G			Somatic					p.P1927P	NM_006269.1	NP_006260.1	WXS	Illumina GAIIx	Phase_I	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5929	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1927						Silent	SNP	ENST00000220676.1	37	c.5781C>G	CCDS6160.1																																																																																				0.353	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		4	146	0	0	0	1	0	4	146				
SLC16A2	6567	broad.mit.edu	37	X	73751240	73751240	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:73751240C>G	ENST00000587091.1	+	6	1649	c.1472C>G	c.(1471-1473)gCt>gGt	p.A491G	SLC16A2_ENST00000276033.5_Missense_Mutation_p.A565G	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	491					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	ATCATCGGGGCTGTAATCCTC	0.522																																						ENST00000276033.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21						c.(1693-1695)gCt>gGt		solute carrier family 16, member 2 (thyroid hormone transporter)	Pyruvic acid(DB00119)						113.0	93.0	100.0					X																	73751240		2203	4300	6503	SO:0001583	missense	6567					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chrX:73751240C>G		CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"""Solute carriers"""	10923	protein-coding gene	gene with protein product		300095	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.1472C>G	X.37:g.73751240C>G	ENSP00000465734:p.Ala491Gly		Somatic				SLC16A2_ENST00000587091.1_Missense_Mutation_p.A491G	p.A565G			WXS	Illumina GAIIx	Phase_I	P36021	MOT8_HUMAN			6	1860	+			491					Q7Z797	Missense_Mutation	SNP	ENST00000587091.1	37	c.1694C>G	CCDS14426.2	.	.	.	.	.	.	.	.	.	.	C	10.45	1.354798	0.24512	.	.	ENSG00000147100	ENST00000276033	T	0.59224	0.28	5.3	4.42	0.53409	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.108801	0.64402	D	0.000008	T	0.32645	0.0836	N	0.05199	-0.095	0.43330	D	0.995361	B	0.16603	0.018	B	0.20184	0.028	T	0.16571	-1.0398	10	0.11182	T	0.66	.	11.63	0.51168	0.0:0.4965:0.5035:0.0	.	491	P36021	MOT8_HUMAN	G	565	ENSP00000276033:A565G	ENSP00000276033:A565G	A	+	2	0	SLC16A2	73667965	1.000000	0.71417	0.471000	0.27229	0.862000	0.49288	6.864000	0.75494	2.210000	0.71456	0.529000	0.55759	GCT		0.522	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3			4	246	0	0	0	1	0	4	246				
SCN10A	6336	broad.mit.edu	37	3	38770231	38770231	+	Silent	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:38770231A>T	ENST00000449082.2	-	15	2441	c.2442T>A	c.(2440-2442)cgT>cgA	p.R814R		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	814					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TTCGGTTGTTACGGTAGTTTT	0.527																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(2440-2442)cgT>cgA		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						129.0	129.0	129.0					3																	38770231		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38770231A>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2442T>A	3.37:g.38770231A>T			Somatic					p.R814R	NM_006514.2	NP_006505.2	WXS	Illumina GAIIx	Phase_I	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	15	2441	-			814					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.2442T>A	CCDS33736.1																																																																																				0.527	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		5	129	0	0	0	1	0	5	129				
OR9Q1	219956	broad.mit.edu	37	11	57947012	57947012	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:57947012A>T	ENST00000335397.3	+	3	412	c.96A>T	c.(94-96)ttA>ttT	p.L32F		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TCTTGTTTTTATTTATGTATC	0.448																																						ENST00000335397.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(94-96)ttA>ttT		olfactory receptor, family 9, subfamily Q, member 1							209.0	198.0	202.0					11																	57947012		2201	4296	6497	SO:0001583	missense	219956				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57947012A>T	AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.96A>T	11.37:g.57947012A>T	ENSP00000334934:p.Leu32Phe		Somatic					p.L32F	NM_001005212.3	NP_001005212.1	WXS	Illumina GAIIx	Phase_I	Q8NGQ5	OR9Q1_HUMAN			3	412	+		Breast(21;0.222)	32					Q2TAN3|Q96RA7	Missense_Mutation	SNP	ENST00000335397.3	37	c.96A>T	CCDS31543.1	.	.	.	.	.	.	.	.	.	.	A	10.69	1.422402	0.25639	.	.	ENSG00000186509	ENST00000335397	T	0.01804	4.63	4.75	-9.5	0.00584	.	0.000000	0.35555	N	0.003126	T	0.04815	0.0130	M	0.77820	2.39	0.18873	N	0.999987	D	0.71674	0.998	D	0.63113	0.911	T	0.18023	-1.0350	10	0.54805	T	0.06	-3.2934	7.7301	0.28781	0.1236:0.1588:0.5605:0.1571	.	32	Q8NGQ5	OR9Q1_HUMAN	F	32	ENSP00000334934:L32F	ENSP00000334934:L32F	L	+	3	2	OR9Q1	57703588	0.000000	0.05858	0.000000	0.03702	0.248000	0.25809	-4.246000	0.00267	-3.550000	0.00142	-0.376000	0.06991	TTA		0.448	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212		7	459	0	0	0	1	0	7	459				
SPIRE2	84501	broad.mit.edu	37	16	89929985	89929985	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr16:89929985C>A	ENST00000378247.3	+	11	1720	c.1677C>A	c.(1675-1677)aaC>aaA	p.N559K	SPIRE2_ENST00000393062.2_Missense_Mutation_p.N559K	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	559					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.N559K(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		TTTTGCAGAACAAGGAGCTCT	0.617																																						ENST00000378247.3																			1	Substitution - Missense(1)	p.N559K(1)	kidney(1)	central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1675-1677)aaC>aaA		spire-type actin nucleation factor 2							81.0	70.0	74.0					16																	89929985		2197	4300	6497	SO:0001583	missense	84501				transport	cytoplasm|cytoskeleton	actin binding	g.chr16:89929985C>A	AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.1677C>A	16.37:g.89929985C>A	ENSP00000367494:p.Asn559Lys		Somatic				SPIRE2_ENST00000393062.2_Missense_Mutation_p.N559K	p.N559K	NM_032451.1	NP_115827.1	WXS	Illumina GAIIx	Phase_I	Q8WWL2	SPIR2_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0286)	11	1720	+		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)	559					A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Missense_Mutation	SNP	ENST00000378247.3	37	c.1677C>A	CCDS32516.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323569	0.41096	.	.	ENSG00000204991	ENST00000378247;ENST00000393062	T;T	0.75704	-0.96;0.98	5.5	0.781	0.18561	Zinc finger, FYVE/PHD-type (1);	0.402149	0.31772	N	0.007093	T	0.59211	0.2177	L	0.38838	1.175	0.80722	D	1	P;B;P;B	0.38504	0.493;0.132;0.634;0.013	B;B;B;B	0.36845	0.116;0.209;0.234;0.007	T	0.50508	-0.8820	10	0.17832	T	0.49	-32.2363	10.9923	0.47557	0.0:0.6936:0.0:0.3064	.	426;559;511;559	Q8WWL2-4;Q8WWL2-2;Q8WWL2-3;Q8WWL2	.;.;.;SPIR2_HUMAN	K	559	ENSP00000367494:N559K;ENSP00000376782:N559K	ENSP00000367494:N559K	N	+	3	2	SPIRE2	88457486	1.000000	0.71417	0.942000	0.38095	0.986000	0.74619	1.875000	0.39578	0.294000	0.22547	0.313000	0.20887	AAC		0.617	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462		13	26	1	0	6.72482e-11	1	7.2832e-11	13	26				
C1orf111	284680	broad.mit.edu	37	1	162344057	162344057	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:162344057G>A	ENST00000367935.5	-	3	646	c.567C>T	c.(565-567)tgC>tgT	p.C189C	RP11-565P22.6_ENST00000431696.1_Intron	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111	189										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			GGTACATGCGGCAGCAGGCCA	0.582																																						ENST00000367935.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						c.(565-567)tgC>tgT		chromosome 1 open reading frame 111							148.0	143.0	145.0					1																	162344057		2203	4300	6503	SO:0001819	synonymous_variant	284680							g.chr1:162344057G>A	BC032957	CCDS1238.1	1q23.3	2008-02-05			ENSG00000171722	ENSG00000171722			27648	protein-coding gene	gene with protein product						12477932	Standard	NM_182581		Approved		uc001gbx.2	Q5T0L3	OTTHUMG00000031375	ENST00000367935.5:c.567C>T	1.37:g.162344057G>A			Somatic				RP11-565P22.6_ENST00000431696.1_Intron	p.C189C	NM_182581.3	NP_872387.2	WXS	Illumina GAIIx	Phase_I	Q5T0L3	CA111_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0938)		3	646	-	all_hematologic(112;0.15)		189					Q6X961|Q8NEC3	Silent	SNP	ENST00000367935.5	37	c.567C>T	CCDS1238.1																																																																																				0.582	C1orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076791.2	NM_182581		5	340	0	0	0	1	0	5	340				
IGSF10	285313	broad.mit.edu	37	3	151163790	151163790	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:151163790C>T	ENST00000282466.3	-	4	3978	c.3979G>A	c.(3979-3981)Gca>Aca	p.A1327T		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1327					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGACAGATGCAGGGAAGGTA	0.408																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(3979-3981)Gca>Aca		immunoglobulin superfamily, member 10							358.0	333.0	341.0					3																	151163790		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151163790C>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.3979G>A	3.37:g.151163790C>T	ENSP00000282466:p.Ala1327Thr		Somatic					p.A1327T	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	WXS	Illumina GAIIx	Phase_I	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	3978	-			1327					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.3979G>A	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.703330	0.30232	.	.	ENSG00000152580	ENST00000282466	T	0.68025	-0.3	4.62	1.63	0.23807	.	0.698029	0.11803	N	0.527892	T	0.38532	0.1044	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.15752	-1.0426	10	0.25106	T	0.35	.	2.2755	0.04101	0.2254:0.3843:0.0:0.3902	.	1327	Q6WRI0	IGS10_HUMAN	T	1327	ENSP00000282466:A1327T	ENSP00000282466:A1327T	A	-	1	0	IGSF10	152646480	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	-0.674000	0.05233	1.072000	0.40860	0.591000	0.81541	GCA		0.408	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		7	976	0	0	0	1	0	7	976				
BAGE2	85319	broad.mit.edu	37	21	11038952	11038952	+	RNA	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr21:11038952A>T	ENST00000470054.1	-	0	1251							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)		TGATAATGAAAATGATGACTC	0.423																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11038952A>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.11038952A>T			Somatic								WXS	Illumina GAIIx	Phase_I			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	1251	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.423	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		50	1010	0	0	0	1	0	50	1010				
MYOF	26509	broad.mit.edu	37	10	95093560	95093560	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:95093560G>A	ENST00000359263.4	-	42	4673	c.4674C>T	c.(4672-4674)taC>taT	p.Y1558Y	MYOF_ENST00000371501.4_Silent_p.Y1558Y|MYOF_ENST00000358334.5_Silent_p.Y1545Y|MYOF_ENST00000371502.4_Silent_p.Y1577Y	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1558	C2 5. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)	p.Y1558Y(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTCGAACAATGTAAATCCTAA	0.547																																						ENST00000371501.4																			1	Substitution - coding silent(1)	p.Y1558Y(1)	kidney(1)	NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(4672-4674)taC>taT		myoferlin							85.0	88.0	87.0					10																	95093560		2007	4192	6199	SO:0001819	synonymous_variant	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95093560G>A	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.4674C>T	10.37:g.95093560G>A			Somatic				MYOF_ENST00000371502.4_Silent_p.Y1577Y|MYOF_ENST00000359263.4_Silent_p.Y1558Y|MYOF_ENST00000358334.5_Silent_p.Y1545Y	p.Y1558Y			WXS	Illumina GAIIx	Phase_I	Q9NZM1	MYOF_HUMAN			42	4796	-			1558			C2 5.		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Silent	SNP	ENST00000359263.4	37	c.4674C>T	CCDS41551.1																																																																																				0.547	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		4	72	0	0	0	1	0	4	72				
SLC13A4	26266	broad.mit.edu	37	7	135370277	135370277	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:135370277C>T	ENST00000354042.4	-	14	2287	c.1598G>A	c.(1597-1599)tGc>tAc	p.C533Y	C7orf73_ENST00000422968.1_Intron|SLC13A4_ENST00000491630.1_5'UTR	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	533					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.C533Y(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						CACCAGGCTGCACAGGATGGG	0.612																																						ENST00000354042.4																			1	Substitution - Missense(1)	p.C533Y(1)	kidney(1)	breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1597-1599)tGc>tAc		solute carrier family 13 (sodium/sulfate symporter), member 4							123.0	107.0	112.0					7																	135370277		2203	4300	6503	SO:0001583	missense	26266					integral to plasma membrane	sodium:sulfate symporter activity	g.chr7:135370277C>T	AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"""Solute carriers"""	15827	protein-coding gene	gene with protein product	"""sulphate transporter 1"""	604309	"""solute carrier family 13 (sodium/sulphate symporters), member 4"""			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.1598G>A	7.37:g.135370277C>T	ENSP00000297282:p.Cys533Tyr		Somatic				C7orf73_ENST00000422968.1_Intron|SLC13A4_ENST00000491630.1_5'UTR	p.C533Y	NM_012450.2	NP_036582.2	WXS	Illumina GAIIx	Phase_I	Q9UKG4	S13A4_HUMAN			14	2287	-			533					A4D1Q4|Q8N631	Missense_Mutation	SNP	ENST00000354042.4	37	c.1598G>A	CCDS5840.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071970	0.76301	.	.	ENSG00000164707	ENST00000354042	T	0.02737	4.18	6.03	6.03	0.97812	.	0.047245	0.85682	D	0.000000	T	0.12092	0.0294	L	0.45581	1.43	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.975	T	0.00081	-1.2106	10	0.87932	D	0	.	18.0507	0.89347	0.0:1.0:0.0:0.0	.	402;533	Q59HF0;Q9UKG4	.;S13A4_HUMAN	Y	533	ENSP00000297282:C533Y	ENSP00000297282:C533Y	C	-	2	0	SLC13A4	135020817	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.070000	0.64376	2.861000	0.98227	0.655000	0.94253	TGC		0.612	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450		41	377	0	0	0	1	0	41	377				
KLHL32	114792	broad.mit.edu	37	6	97586995	97586995	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:97586995A>T	ENST00000369261.4	+	11	2064		c.e11-1		KLHL32_ENST00000539200.1_Splice_Site|KLHL32_ENST00000536676.1_Splice_Site|KLHL32_ENST00000544166.1_Splice_Site	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32											breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CCTCTTTTGTAGGTACTGGAT	0.383																																						ENST00000369261.4																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.e11-1		kelch-like family member 32							120.0	112.0	114.0					6																	97586995		2203	4300	6503	SO:0001630	splice_region_variant	114792							g.chr6:97586995A>T	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.1702-1A>T	6.37:g.97586995A>T			Somatic				KLHL32_ENST00000544166.1_Splice_Site|KLHL32_ENST00000539200.1_Splice_Site|KLHL32_ENST00000536676.1_Splice_Site		NM_052904.3	NP_443136.2	WXS	Illumina GAIIx	Phase_I	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	11	2064	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)						B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Splice_Site	SNP	ENST00000369261.4	37		CCDS5038.1	.	.	.	.	.	.	.	.	.	.	A	14.15	2.448299	0.43429	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000544166;ENST00000539200	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0145	0.80427	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLHL32	97693716	1.000000	0.71417	0.942000	0.38095	0.329000	0.28539	8.852000	0.92215	2.188000	0.69820	0.533000	0.62120	.		0.383	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904	Intron	5	152	0	0	0	1	0	5	152				
TTN	7273	broad.mit.edu	37	2	179582323	179582323	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:179582323G>A	ENST00000591111.1	-	85	24551	c.24327C>T	c.(24325-24327)caC>caT	p.H8109H	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.H8426H|TTN_ENST00000342992.6_Silent_p.H7182H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12300	Ig-like 63.				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)	p.H7182H(1)		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)			ACTGCCCTATGTGGCTCTGGT	0.423																																						ENST00000589042.1																			1	Substitution - coding silent(1)	p.H7182H(1)	kidney(1)	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.(25276-25278)caC>caT		titin							79.0	80.0	80.0					2																	179582323		1882	4122	6004	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179582323G>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.24327C>T	2.37:g.179582323G>A			Somatic				TTN_ENST00000342992.6_Silent_p.H7182H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.H8109H|TTN_ENST00000342175.6_Intron	p.H8426H	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		87	25502	-			8109			Ig-like 67.		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.25278C>T																																																																																					0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		25	49	0	0	0	1	0	25	49				
PGLYRP3	114771	broad.mit.edu	37	1	153274993	153274993	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:153274993A>G	ENST00000290722.1	-	5	672	c.620T>C	c.(619-621)aTc>aCc	p.I207T		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	207					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.I207T(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCGGTGTGGATGATGATGAC	0.483																																						ENST00000290722.1																			1	Substitution - Missense(1)	p.I207T(1)	kidney(1)	breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28						c.(619-621)aTc>aCc		peptidoglycan recognition protein 3							301.0	276.0	285.0					1																	153274993		2203	4300	6503	SO:0001583	missense	114771				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153274993A>G	AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I alpha precursor"""	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.620T>C	1.37:g.153274993A>G	ENSP00000290722:p.Ile207Thr		Somatic					p.I207T	NM_052891.1	NP_443123.1	WXS	Illumina GAIIx	Phase_I	Q96LB9	PGRP3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	672	-	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		207					A1A4U8|Q5SY65	Missense_Mutation	SNP	ENST00000290722.1	37	c.620T>C	CCDS1035.1	.	.	.	.	.	.	.	.	.	.	A	11.24	1.580587	0.28180	.	.	ENSG00000159527	ENST00000290722	T	0.13089	2.62	4.49	3.31	0.37934	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.216602	0.32041	N	0.006662	T	0.08447	0.0210	L	0.39566	1.225	0.29036	N	0.885413	P	0.52692	0.955	P	0.54889	0.763	T	0.10613	-1.0622	10	0.33940	T	0.23	-25.4653	6.8729	0.24131	0.8916:0.0:0.1084:0.0	.	207	Q96LB9	PGRP3_HUMAN	T	207	ENSP00000290722:I207T	ENSP00000290722:I207T	I	-	2	0	PGLYRP3	151541617	1.000000	0.71417	1.000000	0.80357	0.466000	0.32739	1.620000	0.36976	1.891000	0.54761	0.533000	0.62120	ATC		0.483	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039488.1	NM_052891		40	368	0	0	0	1	0	40	368				
SERPING1	710	broad.mit.edu	37	11	57379256	57379256	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:57379256C>T	ENST00000278407.4	+	7	1323	c.1096C>T	c.(1096-1098)Cgt>Tgt	p.R366C	SERPING1_ENST00000403558.1_Missense_Mutation_p.R409C|SERPING1_ENST00000378323.4_Missense_Mutation_p.R371C|SERPING1_ENST00000378324.2_Missense_Mutation_p.R314C|SERPING1_ENST00000340687.6_Intron	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	366					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CCTGAAACATCGTCTTGAAGA	0.493																																						ENST00000403558.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						c.(1225-1227)Cgt>Tgt		serpin peptidase inhibitor, clade G (C1 inhibitor), member 1							158.0	146.0	150.0					11																	57379256		2201	4296	6497	SO:0001583	missense	710				blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	g.chr11:57379256C>T	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.1096C>T	11.37:g.57379256C>T	ENSP00000278407:p.Arg366Cys		Somatic				SERPING1_ENST00000378323.4_Missense_Mutation_p.R371C|SERPING1_ENST00000378324.2_Missense_Mutation_p.R314C|SERPING1_ENST00000340687.6_Intron|SERPING1_ENST00000278407.4_Missense_Mutation_p.R366C	p.R409C	NM_001032295.1	NP_001027466.1	WXS	Illumina GAIIx	Phase_I	P05155	IC1_HUMAN			6	1591	+			366					A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Missense_Mutation	SNP	ENST00000278407.4	37	c.1225C>T	CCDS7962.1	.	.	.	.	.	.	.	.	.	.	C	9.580	1.123211	0.20959	.	.	ENSG00000149131	ENST00000278407;ENST00000378323;ENST00000378324;ENST00000403558	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	4.69	1.67	0.24075	Serpin domain (3);	2.097440	0.01653	N	0.024644	T	0.81437	0.4822	M	0.61703	1.905	0.09310	N	1	P;P	0.45634	0.863;0.863	B;B	0.16722	0.016;0.016	T	0.69892	-0.5022	10	0.87932	D	0	.	6.3105	0.21163	0.4675:0.4448:0.0:0.0876	.	371;366	B4E1F0;P05155	.;IC1_HUMAN	C	366;371;314;409	ENSP00000278407:R366C;ENSP00000367574:R371C;ENSP00000367575:R314C;ENSP00000384420:R409C	ENSP00000278407:R366C	R	+	1	0	SERPING1	57135832	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-0.083000	0.11286	0.132000	0.18615	0.561000	0.74099	CGT		0.493	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062		20	463	0	0	0	1	0	20	463				
SCFD1	23256	broad.mit.edu	37	14	31204790	31204790	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr14:31204790A>T	ENST00000458591.2	+	25	2132		c.e25-1		SCFD1_ENST00000544052.2_Splice_Site|SCFD1_ENST00000541123.1_Splice_Site|SCFD1_ENST00000396629.2_Splice_Site|RP11-159L20.2_ENST00000554665.1_RNA|SCFD1_ENST00000421551.3_Splice_Site	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1						post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		GTTTTGTTTTAGTTGTCACAA	0.264																																						ENST00000458591.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13						c.e25-1		sec1 family domain containing 1							100.0	105.0	103.0					14																	31204790		2203	4299	6502	SO:0001630	splice_region_variant	23256				post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding	g.chr14:31204790A>T	AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 163"""	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.1906-1A>T	14.37:g.31204790A>T			Somatic				RP11-159L20.2_ENST00000554665.1_RNA|SCFD1_ENST00000541123.1_Splice_Site|SCFD1_ENST00000421551.3_Splice_Site|SCFD1_ENST00000544052.2_Splice_Site|SCFD1_ENST00000396629.2_Splice_Site		NM_016106.3	NP_057190.2	WXS	Illumina GAIIx	Phase_I	Q8WVM8	SCFD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)	25	2132	+	Hepatocellular(127;0.0877)							A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Splice_Site	SNP	ENST00000458591.2	37		CCDS9639.1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.544490	0.45280	.	.	ENSG00000092108	ENST00000458591;ENST00000544052;ENST00000421551;ENST00000541123;ENST00000396629	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8058	0.63230	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SCFD1	30274541	1.000000	0.71417	0.993000	0.49108	0.550000	0.35303	5.521000	0.67086	2.295000	0.77249	0.523000	0.50628	.		0.264	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835	Intron	4	35	0	0	0	1	0	4	35				
KIF15	56992	broad.mit.edu	37	3	44856401	44856401	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:44856401A>T	ENST00000326047.4	+	20	2532		c.e20-1		KIF15_ENST00000425755.1_Splice_Site	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TTTGTTTTTTAGTTTTGAAAA	0.358																																						ENST00000326047.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36						c.e20-1		kinesin family member 15							81.0	81.0	81.0					3																	44856401		2203	4300	6503	SO:0001630	splice_region_variant	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44856401A>T	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.2384-1A>T	3.37:g.44856401A>T			Somatic				KIF15_ENST00000425755.1_Splice_Site		NM_020242.2	NP_064627.1	WXS	Illumina GAIIx	Phase_I	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	20	2532	+								Q17RV9|Q69YL6|Q96JX7|Q9H280	Splice_Site	SNP	ENST00000326047.4	37		CCDS33744.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.884123	0.72410	.	.	ENSG00000163808	ENST00000326047;ENST00000481166;ENST00000396031;ENST00000425755	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4799	0.75517	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF15	44831405	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	7.323000	0.79105	2.200000	0.70718	0.482000	0.46254	.		0.358	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2		Intron	6	49	0	0	0	1	0	6	49				
R3HCC1L	27291	broad.mit.edu	37	10	99991267	99991267	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:99991267A>T	ENST00000298999.3	+	6	2088		c.e6-1		R3HCC1L_ENST00000314594.5_Splice_Site|R3HCC1L_ENST00000370586.2_Splice_Site|R3HCC1L_ENST00000370584.3_Splice_Site	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like								nucleotide binding (GO:0000166)										CTTCCTTTCTAGTTATCAGGG	0.378																																						ENST00000314594.5																			0											c.e7-1		R3H domain and coiled-coil containing 1-like							95.0	87.0	90.0					10																	99991267		2203	4300	6503	SO:0001630	splice_region_variant	27291							g.chr10:99991267A>T	AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 28"""	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.1786-1A>T	10.37:g.99991267A>T			Somatic				R3HCC1L_ENST00000298999.3_Splice_Site|R3HCC1L_ENST00000370586.2_Splice_Site|R3HCC1L_ENST00000370584.3_Splice_Site		NM_001256619.1	NP_001243548.1	WXS	Illumina GAIIx	Phase_I					7	2130	+								O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Splice_Site	SNP	ENST00000298999.3	37		CCDS31267.1	.	.	.	.	.	.	.	.	.	.	A	18.73	3.685861	0.68157	.	.	ENSG00000166024	ENST00000370584;ENST00000298999;ENST00000370586;ENST00000314594;ENST00000544834	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1559	0.72743	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C10orf28	99981257	1.000000	0.71417	0.997000	0.53966	0.846000	0.48090	4.807000	0.62576	2.214000	0.71695	0.533000	0.62120	.		0.378	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472	Intron	6	215	0	0	0	1	0	6	215				
CCDC129	223075	broad.mit.edu	37	7	31594091	31594091	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:31594091G>T	ENST00000407970.3	+	3	204	c.166G>T	c.(166-168)Gat>Tat	p.D56Y	CCDC129_ENST00000482748.1_3'UTR|CCDC129_ENST00000319386.3_Missense_Mutation_p.D56Y|CCDC129_ENST00000409210.1_5'UTR|CCDC129_ENST00000451887.2_Missense_Mutation_p.D82Y	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	56										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ACTTGTAGAAGATTCCAAGCA	0.423																																						ENST00000319386.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(166-168)Gat>Tat		coiled-coil domain containing 129							116.0	112.0	113.0					7																	31594091		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31594091G>T	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.166G>T	7.37:g.31594091G>T	ENSP00000384416:p.Asp56Tyr		Somatic				CCDC129_ENST00000482748.1_3'UTR|CCDC129_ENST00000407970.3_Missense_Mutation_p.D56Y|CCDC129_ENST00000409210.1_5'UTR|CCDC129_ENST00000451887.2_Missense_Mutation_p.D82Y	p.D56Y			WXS	Illumina GAIIx	Phase_I	Q6ZRS4	CC129_HUMAN			3	1159	+			56					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.166G>T	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	16.04	3.011362	0.54468	.	.	ENSG00000180347	ENST00000409717;ENST00000456011;ENST00000319386;ENST00000407970;ENST00000454513;ENST00000451887;ENST00000538406	T;T;T;T;T;T	0.53857	0.6;0.65;1.95;2.17;0.62;2.15	5.15	2.34	0.29019	.	0.304042	0.23746	N	0.044976	T	0.61874	0.2382	L	0.60455	1.87	0.24115	N	0.99583	D;D;D;D	0.89917	0.998;1.0;1.0;0.997	D;D;D;D	0.70016	0.935;0.967;0.943;0.912	T	0.49341	-0.8950	10	0.66056	D	0.02	-10.6921	6.2214	0.20683	0.3073:0.0:0.6927:0.0	.	82;66;56;56	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	Y	56;56;56;56;56;82;66	ENSP00000387220:D56Y;ENSP00000390544:D56Y;ENSP00000313062:D56Y;ENSP00000384416:D56Y;ENSP00000413233:D56Y;ENSP00000395835:D82Y	ENSP00000313062:D56Y	D	+	1	0	CCDC129	31560616	1.000000	0.71417	0.974000	0.42286	0.928000	0.56348	0.841000	0.27613	0.847000	0.35167	0.650000	0.86243	GAT		0.423	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		4	35	1	0	0.00198382	1	0.00203121	4	35				
RAB11FIP1	80223	broad.mit.edu	37	8	37732689	37732689	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr8:37732689G>T	ENST00000330843.4	-	3	978	c.966C>A	c.(964-966)aaC>aaA	p.N322K	RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.N322K|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.N174K|RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.N174K	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	322					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GGTAAACATGGTTCCCATTGA	0.502																																						ENST00000330843.4																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(964-966)aaC>aaA		RAB11 family interacting protein 1 (class I)							266.0	261.0	263.0					8																	37732689		2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37732689G>T	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.966C>A	8.37:g.37732689G>T	ENSP00000331342:p.Asn322Lys		Somatic				RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.N174K|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.N174K|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.N322K	p.N322K	NM_001002814.2	NP_001002814.2	WXS	Illumina GAIIx	Phase_I	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		3	978	-		Lung NSC(58;0.118)|all_lung(54;0.195)	322					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.966C>A	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164439	0.57476	.	.	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727;ENST00000524118	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.24	3.18	0.36537	.	0.250041	0.35040	N	0.003486	T	0.41627	0.1167	M	0.72118	2.19	0.37108	D	0.900222	D;P;D;D	0.65815	0.958;0.925;0.972;0.995	P;P;P;P	0.55112	0.63;0.621;0.737;0.769	T	0.49844	-0.8896	10	0.62326	D	0.03	-21.9127	6.2255	0.20706	0.3906:0.0:0.6094:0.0	.	174;174;322;322	E7EX40;Q6WKZ4-2;Q6WKZ4-3;Q6WKZ4	.;.;.;RFIP1_HUMAN	K	322;322;174;174	ENSP00000287263:N322K;ENSP00000331342:N322K;ENSP00000430009:N174K;ENSP00000430680:N174K	ENSP00000287263:N322K	N	-	3	2	RAB11FIP1	37851847	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	1.123000	0.31308	1.214000	0.43395	-0.136000	0.14681	AAC		0.502	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		8	1046	1	0	0.00307968	1	0.00314253	8	1046				
CNBP	7555	broad.mit.edu	37	3	128890023	128890023	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:128890023G>A	ENST00000422453.2	-	4	475	c.315C>T	c.(313-315)ggC>ggT	p.G105G	CNBP_ENST00000441626.2_Silent_p.G107G|CNBP_ENST00000502976.1_Silent_p.G98G|CNBP_ENST00000504813.1_Silent_p.G95G|CNBP_ENST00000451728.2_Silent_p.G106G|CNBP_ENST00000446936.2_Silent_p.G100G|CNBP_ENST00000500450.2_Silent_p.G88G	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	105					cholesterol biosynthetic process (GO:0006695)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.G105G(1)		biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						GAGCCAGATGGCCTGGTTTGC	0.502																																						ENST00000422453.2																			1	Substitution - coding silent(1)	p.G105G(1)	kidney(1)	biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						c.(313-315)ggC>ggT		CCHC-type zinc finger, nucleic acid binding protein							116.0	97.0	103.0					3																	128890023		2203	4300	6503	SO:0001819	synonymous_variant	7555				cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:128890023G>A	U19765	CCDS3056.1, CCDS46906.1, CCDS46907.1, CCDS46908.1, CCDS54637.1	3q21	2013-01-09	2006-06-29	2006-06-29				"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCHC domain containing"""	13164	protein-coding gene	gene with protein product		116955	"""zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)"", ""zinc finger protein 9"""	DM2, ZNF9		2249857, 11486088	Standard	NM_003418		Approved	RNF163, ZCCHC22, CNBP1	uc021xdw.1	P62633		ENST00000422453.2:c.315C>T	3.37:g.128890023G>A			Somatic				CNBP_ENST00000451728.2_Silent_p.G106G|CNBP_ENST00000500450.2_Silent_p.G88G|CNBP_ENST00000504813.1_Silent_p.G95G|CNBP_ENST00000441626.2_Silent_p.G107G|CNBP_ENST00000502976.1_Silent_p.G98G|CNBP_ENST00000446936.2_Silent_p.G100G	p.G105G	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	WXS	Illumina GAIIx	Phase_I	P62633	CNBP_HUMAN			4	475	-			105					A8K7V4|B2RAV9|B4DP17|D3DNB9|D3DNC0|D3DNC1|E9PDR7|P20694|Q4JGY0|Q4JGY1|Q5QJR0|Q5U0E9|Q6PJI7|Q96NV3	Silent	SNP	ENST00000422453.2	37	c.315C>T	CCDS3056.1	.	.	.	.	.	.	.	.	.	.	G	8.013	0.757872	0.15846	.	.	ENSG00000169714	ENST00000512338	.	.	.	5.52	4.65	0.58169	.	.	.	.	.	T	0.64416	0.2596	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66980	-0.5786	5	0.87932	D	0	-13.9427	7.7781	0.29049	0.0866:0.1637:0.7496:0.0	.	.	.	.	V	110	.	ENSP00000424787:A110V	A	-	2	0	CNBP	130372713	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.951000	0.40333	1.352000	0.45808	0.591000	0.81541	GCC		0.502	CNBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358419.1	NM_003418		115	158	0	0	0	1	0	115	158				
PDHA2	5161	broad.mit.edu	37	4	96761615	96761615	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr4:96761615G>A	ENST00000295266.4	+	1	377	c.314G>A	c.(313-315)gGc>gAc	p.G105D		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	105					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		CTTGAGGCCGGCATAAACCCC	0.517																																						ENST00000295266.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(313-315)gGc>gAc		pyruvate dehydrogenase (lipoamide) alpha 2	NADH(DB00157)						129.0	113.0	119.0					4																	96761615		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761615G>A		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.314G>A	4.37:g.96761615G>A	ENSP00000295266:p.Gly105Asp		Somatic					p.G105D	NM_005390.4	NP_005381.1	WXS	Illumina GAIIx	Phase_I	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	377	+		Hepatocellular(203;0.114)	105					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.314G>A	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.439043	0.25900	.	.	ENSG00000163114	ENST00000295266	D	0.97114	-4.25	4.91	4.05	0.47172	Dehydrogenase, E1 component (1);	0.263878	0.35179	N	0.003394	D	0.97408	0.9152	L	0.56124	1.755	0.21220	N	0.999757	D	0.61697	0.99	D	0.69824	0.966	D	0.92952	0.6381	10	0.87932	D	0	-17.1313	11.773	0.51970	0.0:0.3428:0.6572:0.0	.	105	P29803	ODPAT_HUMAN	D	105	ENSP00000295266:G105D	ENSP00000295266:G105D	G	+	2	0	PDHA2	96980638	1.000000	0.71417	0.093000	0.20910	0.022000	0.10575	3.757000	0.55212	1.408000	0.46895	0.467000	0.42956	GGC		0.517	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			4	310	0	0	0	1	0	4	310				
CDCA7L	55536	broad.mit.edu	37	7	21941942	21941942	+	Nonstop_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:21941942A>T	ENST00000406877.3	-	10	1642	c.1363T>A	c.(1363-1365)Taa>Aaa	p.*455K	CDCA7L_ENST00000373934.4_Nonstop_Mutation_p.*409K|CDCA7L_ENST00000465490.1_5'Flank|CDCA7L_ENST00000356195.5_Nonstop_Mutation_p.*421K	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	0					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TTTTCCTCTTAATTGTCTTCT	0.378																																						ENST00000406877.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						c.(1363-1365)Taa>Aaa		cell division cycle associated 7-like							201.0	168.0	179.0					7																	21941942		2203	4300	6503	SO:0001578	stop_lost	55536				positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr7:21941942A>T		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.1363T>A	7.37:g.21941942A>T			Somatic				CDCA7L_ENST00000356195.5_Nonstop_Mutation_p.*421K|CDCA7L_ENST00000373934.4_Nonstop_Mutation_p.*409K	p.*455K	NM_018719.4	NP_061189.2	WXS	Illumina GAIIx	Phase_I	Q96GN5	CDA7L_HUMAN			10	1642	-			0					A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Nonstop_Mutation	SNP	ENST00000406877.3	37	c.1363T>A	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.282982	0.80692	.	.	ENSG00000164649	ENST00000356195;ENST00000406877;ENST00000373934	.	.	.	5.68	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5549	0.39332	0.9185:0.0:0.0815:0.0	.	.	.	.	K	421;455;409	.	.	X	-	1	0	CDCA7L	21908467	0.389000	0.25205	0.115000	0.21578	0.852000	0.48524	3.246000	0.51414	1.115000	0.41800	0.528000	0.53228	TAA		0.378	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719		4	78	0	0	0	1	0	4	78				
ZCCHC11	23318	broad.mit.edu	37	1	52903989	52903989	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:52903989T>A	ENST00000371544.3	-	25	4103	c.3841A>T	c.(3841-3843)Aga>Tga	p.R1281*	ZCCHC11_ENST00000257177.4_Nonsense_Mutation_p.R1281*	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1281					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GTTAATACTCTGGAATCAAAG	0.388																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(3841-3843)Aga>Tga		zinc finger, CCHC domain containing 11							131.0	126.0	128.0					1																	52903989		2203	4300	6503	SO:0001587	stop_gained	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52903989T>A	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.3841A>T	1.37:g.52903989T>A	ENSP00000360599:p.Arg1281*		Somatic				ZCCHC11_ENST00000257177.4_Nonsense_Mutation_p.R1281*	p.R1281*	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	WXS	Illumina GAIIx	Phase_I	Q5TAX3	TUT4_HUMAN			25	4103	-			1281					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Nonsense_Mutation	SNP	ENST00000371544.3	37	c.3841A>T	CCDS30716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	44|44	10.552256|10.552256	0.99426|0.99426	.|.	.|.	ENSG00000134744|ENSG00000134744	ENST00000474453|ENST00000257177;ENST00000371544;ENST00000531722	.|.	.|.	.|.	5.67|5.67	3.28|3.28	0.37604|0.37604	.|.	.|0.093166	.|0.64402	.|D	.|0.000001	T|.	0.45034|.	0.1322|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.12760|.	-1.0535|.	4|.	.|0.07990	.|T	.|0.79	.|.	12.5615|12.5615	0.56283|0.56283	0.0:0.0:0.2632:0.7368|0.0:0.0:0.2632:0.7368	.|.	.|.	.|.	.|.	L|X	130|1281;1281;123	.|.	.|ENSP00000257177:R1281X	Q|R	-|-	2|1	0|2	ZCCHC11|ZCCHC11	52676577|52676577	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.995000|0.995000	0.86356|0.86356	3.980000|3.980000	0.56895|0.56895	0.387000|0.387000	0.25024|0.25024	0.533000|0.533000	0.62120|0.62120	CAG|AGA		0.388	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		4	202	0	0	0	1	0	4	202				
NPY2R	4887	broad.mit.edu	37	4	156135042	156135042	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr4:156135042A>T	ENST00000329476.3	+	2	441		c.e2-1		NPY2R_ENST00000506608.1_Splice_Site	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	ttTTCTTTTTAGGTTGTAGAC	0.398																																						ENST00000329476.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36						c.e2-1		neuropeptide Y receptor Y2							44.0	46.0	45.0					4																	156135042		2202	4298	6500	SO:0001630	splice_region_variant	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156135042A>T	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.-48-1A>T	4.37:g.156135042A>T			Somatic				NPY2R_ENST00000506608.1_Splice_Site		NM_000910.2	NP_000901.1	WXS	Illumina GAIIx	Phase_I	P49146	NPY2R_HUMAN			2	441	+	all_hematologic(180;0.24)	Renal(120;0.0854)						Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Splice_Site	SNP	ENST00000329476.3	37		CCDS3791.1																																																																																				0.398	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910	Intron	6	35	0	0	0	1	0	6	35				
NPR3	4883	broad.mit.edu	37	5	32780855	32780855	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:32780855C>T	ENST00000265074.8	+	5	1566	c.1223C>T	c.(1222-1224)gCc>gTc	p.A408V	AC026703.2_ENST00000607869.1_RNA|NPR3_ENST00000415685.2_Missense_Mutation_p.A192V|NPR3_ENST00000415167.2_Missense_Mutation_p.A408V|NPR3_ENST00000434067.2_Missense_Mutation_p.A192V	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	408					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TCCATAGATGCCAACGGAGAC	0.517																																						ENST00000265074.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(1222-1224)gCc>gTc		natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	Nesiritide(DB04899)						158.0	172.0	168.0					5																	32780855		2174	4274	6448	SO:0001583	missense	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32780855C>T		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.1223C>T	5.37:g.32780855C>T	ENSP00000265074:p.Ala408Val		Somatic				NPR3_ENST00000434067.2_Missense_Mutation_p.A192V|NPR3_ENST00000415685.2_Missense_Mutation_p.A192V|NPR3_ENST00000415167.2_Missense_Mutation_p.A408V	p.A408V	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	WXS	Illumina GAIIx	Phase_I	P17342	ANPRC_HUMAN			5	1566	+			408					A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.1223C>T	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368125	0.82463	.	.	ENSG00000113389	ENST00000509104;ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77	5.65	5.65	0.86999	Extracellular ligand-binding receptor (1);	0.155075	0.56097	D	0.000023	T	0.80874	0.4707	M	0.64997	1.995	0.43965	D	0.996646	P;P;P;P	0.38677	0.457;0.517;0.642;0.642	B;B;B;B	0.32211	0.106;0.142;0.141;0.141	T	0.79766	-0.1665	10	0.33940	T	0.23	-14.2457	20.0887	0.97806	0.0:1.0:0.0:0.0	.	192;192;408;408	E7EPG9;B4DT84;P17342;Q60I31	.;.;ANPRC_HUMAN;.	V	185;192;192;408;408	ENSP00000425325:A185V;ENSP00000388408:A192V;ENSP00000402490:A192V;ENSP00000265074:A408V;ENSP00000398028:A408V	ENSP00000265074:A408V	A	+	2	0	NPR3	32816612	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	2.824000	0.48088	2.825000	0.97269	0.655000	0.94253	GCC		0.517	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		54	272	0	0	0	1	0	54	272				
DIAPH1	1729	broad.mit.edu	37	5	140954715	140954715	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:140954715T>A	ENST00000398557.4	-	15	1602		c.e15-2		DIAPH1_ENST00000398566.3_Splice_Site|DIAPH1_ENST00000389054.3_Splice_Site|DIAPH1_ENST00000520569.1_Splice_Site|DIAPH1_ENST00000398562.2_Splice_Site|DIAPH1_ENST00000253811.6_Splice_Site|DIAPH1_ENST00000389057.5_Splice_Site|DIAPH1_ENST00000518047.1_Splice_Site	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1						actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGTCCAACTAGAGAAAAAA	0.443																																						ENST00000253811.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.e15-2		diaphanous-related formin 1							98.0	87.0	91.0					5																	140954715		1875	4115	5990	SO:0001630	splice_region_variant	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140954715T>A	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.1462-2A>T	5.37:g.140954715T>A			Somatic				DIAPH1_ENST00000398557.4_Splice_Site|DIAPH1_ENST00000389054.3_Splice_Site|DIAPH1_ENST00000389057.5_Splice_Site|DIAPH1_ENST00000518047.1_Splice_Site|DIAPH1_ENST00000520569.1_Splice_Site|DIAPH1_ENST00000398566.3_Splice_Site|DIAPH1_ENST00000398562.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		15	1602	-								A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Splice_Site	SNP	ENST00000398557.4	37		CCDS43374.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.251848	0.80135	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6232	0.76824	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DIAPH1	140934899	1.000000	0.71417	0.993000	0.49108	0.839000	0.47603	6.570000	0.73996	2.326000	0.78906	0.533000	0.62120	.		0.443	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219	Intron	7	389	0	0	0	1	0	7	389				
PRDM4	11108	broad.mit.edu	37	12	108127989	108127989	+	Nonstop_Mutation	SNP	A	A	T	rs560662752		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:108127989A>T	ENST00000228437.5	-	12	2863	c.2404T>A	c.(2404-2406)Taa>Aaa	p.*802K	RP11-864J10.4_ENST00000546714.1_RNA|RP11-864J10.4_ENST00000546829.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	0					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TTTTCCTTTTATTTATGTGCA	0.358																																						ENST00000228437.5																			0				biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(2404-2406)Taa>Aaa		PR domain containing 4							98.0	100.0	99.0					12																	108127989		2203	4300	6503	SO:0001578	stop_lost	11108				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr12:108127989A>T	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.2404T>A	12.37:g.108127989A>T			Somatic					p.*802K	NM_012406.3	NP_036538.3	WXS	Illumina GAIIx	Phase_I	Q9UKN5	PRDM4_HUMAN			12	2863	-			0					Q9UFA6	Nonstop_Mutation	SNP	ENST00000228437.5	37	c.2404T>A	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	A	31	5.072663	0.93950	.	.	ENSG00000110851	ENST00000228437	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3011	0.66352	1.0:0.0:0.0:0.0	.	.	.	.	K	802	.	.	X	-	1	0	PRDM4	106652119	0.488000	0.25996	0.470000	0.27216	0.939000	0.58152	4.818000	0.62657	2.313000	0.78055	0.454000	0.30748	TAA		0.358	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		5	152	0	0	0	1	0	5	152				
NOL4	8715	broad.mit.edu	37	18	31523066	31523066	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr18:31523066C>A	ENST00000261592.5	-	9	1802	c.1505G>T	c.(1504-1506)aGa>aTa	p.R502I	NOL4_ENST00000535384.1_Missense_Mutation_p.R217I|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000538587.1_Missense_Mutation_p.R428I|NOL4_ENST00000535475.1_Missense_Mutation_p.R283I|NOL4_ENST00000269185.4_Intron	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	502						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GGCGGCATTTCTACTCTCACT	0.428																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1504-1506)aGa>aTa		nucleolar protein 4							104.0	94.0	97.0					18																	31523066		2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31523066C>A	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1505G>T	18.37:g.31523066C>A	ENSP00000261592:p.Arg502Ile		Somatic				NOL4_ENST00000589544.1_Intron|NOL4_ENST00000535475.1_Missense_Mutation_p.R283I|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000538587.1_Missense_Mutation_p.R428I|NOL4_ENST00000535384.1_Missense_Mutation_p.R217I	p.R502I	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	WXS	Illumina GAIIx	Phase_I	O94818	NOL4_HUMAN			9	1802	-			502					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.1505G>T	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696646	0.88830	.	.	ENSG00000101746	ENST00000261592;ENST00000399171;ENST00000535384;ENST00000535475;ENST00000538587	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.78767	0.4335	M	0.62723	1.935	0.80722	D	1	D;P;D;D;P;P	0.69078	0.997;0.928;0.963;0.985;0.928;0.843	D;P;P;D;P;B	0.80764	0.994;0.855;0.795;0.911;0.855;0.437	T	0.78868	-0.2034	9	0.72032	D	0.01	-17.5716	20.2049	0.98273	0.0:1.0:0.0:0.0	.	187;217;428;502;217;283	F8W825;B7Z3Z7;B4DSQ0;O94818;F5H1E3;B3KRF4	.;.;.;NOL4_HUMAN;.;.	I	502;187;217;283;428	.	ENSP00000261592:R502I	R	-	2	0	NOL4	29777064	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	6.830000	0.75319	2.772000	0.95346	0.650000	0.86243	AGA		0.428	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		6	179	1	0	0.000274275	1	0.000284715	6	179				
IRF9	10379	broad.mit.edu	37	14	24632285	24632285	+	Silent	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr14:24632285T>A	ENST00000396864.3	+	3	578	c.291T>A	c.(289-291)gtT>gtA	p.V97V	IRF9_ENST00000557894.1_5'UTR|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	97					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)	p.V97V(1)		NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		TTAAGGAGGTTCCTGAGAGGG	0.527																																						ENST00000396864.3																			1	Substitution - coding silent(1)	p.V97V(1)	kidney(1)	NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(289-291)gtT>gtA		interferon regulatory factor 9							94.0	91.0	92.0					14																	24632285		2203	4300	6503	SO:0001819	synonymous_variant	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.chr14:24632285T>A	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.291T>A	14.37:g.24632285T>A			Somatic				RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_5'UTR	p.V97V	NM_006084.4	NP_006075.3	WXS	Illumina GAIIx	Phase_I	Q00978	IRF9_HUMAN		GBM - Glioblastoma multiforme(265;0.00853)	3	578	+			97					D3DS61	Silent	SNP	ENST00000396864.3	37	c.291T>A	CCDS9615.1																																																																																				0.527	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2			21	280	0	0	0	1	0	21	280				
PARN	5073	broad.mit.edu	37	16	14676140	14676140	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr16:14676140C>A	ENST00000437198.2	-	17	1231	c.1090G>T	c.(1090-1092)Gaa>Taa	p.E364*	PARN_ENST00000539279.1_Nonsense_Mutation_p.E189*|PARN_ENST00000420015.2_Nonsense_Mutation_p.E318*|PARN_ENST00000341484.7_Nonsense_Mutation_p.E303*	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	364					female gamete generation (GO:0007292)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						GGAAAACCTTCGGCACTTTCT	0.423																																						ENST00000437198.2																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						c.(1090-1092)Gaa>Taa		poly(A)-specific ribonuclease							177.0	166.0	169.0					16																	14676140		1885	4112	5997	SO:0001587	stop_gained	5073				female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding	g.chr16:14676140C>A	AJ005698	CCDS45419.1, CCDS45420.1, CCDS58425.1	16p13	2014-08-08	2011-07-07		ENSG00000140694	ENSG00000140694	3.1.13.4		8609	protein-coding gene	gene with protein product	"""deadenylation nuclease"""	604212	"""poly(A)-specific ribonuclease (deadenylation nuclease)"""			10640832	Standard	NM_002582		Approved	DAN	uc010uzd.2	O95453	OTTHUMG00000173199	ENST00000437198.2:c.1090G>T	16.37:g.14676140C>A	ENSP00000387911:p.Glu364*		Somatic				PARN_ENST00000341484.7_Nonsense_Mutation_p.E303*|PARN_ENST00000420015.2_Nonsense_Mutation_p.E318*|PARN_ENST00000539279.1_Nonsense_Mutation_p.E189*	p.E364*	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	WXS	Illumina GAIIx	Phase_I	O95453	PARN_HUMAN			17	1231	-			364					B2RCB3|B4DDG8|B4DWR4|B4E1H6	Nonsense_Mutation	SNP	ENST00000437198.2	37	c.1090G>T	CCDS45419.1	.	.	.	.	.	.	.	.	.	.	C	38	6.645706	0.97730	.	.	ENSG00000140694	ENST00000437198;ENST00000341484;ENST00000420015;ENST00000539279	.	.	.	5.68	4.74	0.60224	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-17.6414	13.4651	0.61249	0.0:0.9241:0.0:0.0759	.	.	.	.	X	364;303;318;189	.	ENSP00000345456:E303X	E	-	1	0	PARN	14583641	1.000000	0.71417	0.996000	0.52242	0.922000	0.55478	5.801000	0.69115	1.403000	0.46800	0.563000	0.77884	GAA		0.423	PARN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422383.1	NM_002582		4	533	1	0	0.014758	1	0.0149071	4	533				
ZGRF1	55345	broad.mit.edu	37	4	113481887	113481887	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr4:113481887A>T	ENST00000505019.1	-	19	5086		c.e19+1			NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN								integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTTGCTTCTTACCATGTATGA	0.338																																						ENST00000505019.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.e19+1		chromosome 4 open reading frame 21							127.0	128.0	127.0					4																	113481887		2203	4300	6503	SO:0001630	splice_region_variant	55345							g.chr4:113481887A>T																												ENST00000505019.1:c.4960+1T>A	4.37:g.113481887A>T			Somatic						NM_018392.4	NP_060862.3	WXS	Illumina GAIIx	Phase_I	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	19	5086	-		Ovarian(17;0.156)						B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Splice_Site	SNP	ENST00000505019.1	37			.	.	.	.	.	.	.	.	.	.	A	19.81	3.896996	0.72639	.	.	ENSG00000138658	ENST00000505019	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2498	0.82475	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C4orf21	113701336	1.000000	0.71417	0.999000	0.59377	0.896000	0.52359	6.233000	0.72320	2.237000	0.73441	0.477000	0.44152	.		0.338	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1		Intron	5	195	0	0	0	1	0	5	195				
SNRNP48	154007	broad.mit.edu	37	6	7606369	7606369	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:7606369T>A	ENST00000342415.5	+	8	971	c.912T>A	c.(910-912)caT>caA	p.H304Q		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	304	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GAAGCCCACATAAAAGAAAAA	0.428																																						ENST00000342415.5																			0				kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(910-912)caT>caA		small nuclear ribonucleoprotein 48kDa (U11/U12)							81.0	79.0	79.0					6																	7606369		2203	4300	6503	SO:0001583	missense	154007				mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding	g.chr6:7606369T>A	AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"""U11/U12 snRNP 48K"""		"""chromosome 6 open reading frame 151"""	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.912T>A	6.37:g.7606369T>A	ENSP00000339834:p.His304Gln		Somatic					p.H304Q	NM_152551.3	NP_689764.3	WXS	Illumina GAIIx	Phase_I	Q6IEG0	SNR48_HUMAN			8	971	+			304			Arg-rich.		A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Missense_Mutation	SNP	ENST00000342415.5	37	c.912T>A	CCDS4502.1	.	.	.	.	.	.	.	.	.	.	T	14.02	2.409395	0.42715	.	.	ENSG00000168566	ENST00000342415	T	0.30448	1.53	6.02	0.428	0.16499	.	0.415365	0.27749	N	0.018009	T	0.09686	0.0238	L	0.44542	1.39	0.26951	N	0.966026	B	0.28128	0.201	B	0.24701	0.055	T	0.20638	-1.0269	10	0.46703	T	0.11	-15.4244	9.6789	0.40059	0.0:0.492:0.0:0.508	.	304	Q6IEG0	SNR48_HUMAN	Q	304	ENSP00000339834:H304Q	ENSP00000339834:H304Q	H	+	3	2	SNRNP48	7551368	0.279000	0.24239	0.676000	0.29932	0.702000	0.40608	-0.569000	0.05902	-0.023000	0.13963	0.533000	0.62120	CAT		0.428	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039787.3	NM_152551		4	185	0	0	0	1	0	4	185				
SLC7A8	23428	broad.mit.edu	37	14	23597394	23597394	+	Silent	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr14:23597394C>G	ENST00000316902.7	-	10	2000	c.1275G>C	c.(1273-1275)ctG>ctC	p.L425L	SLC7A8_ENST00000529705.2_Silent_p.L320L|SLC7A8_ENST00000422941.2_Silent_p.L201L|SLC7A8_ENST00000469263.1_Intron|SLC7A8_ENST00000453702.1_Silent_p.L222L	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	425					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)	p.L425L(1)		autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	TGATGGGGAACAGCAGGTTGA	0.582																																						ENST00000316902.7																			1	Substitution - coding silent(1)	p.L425L(1)	kidney(1)	autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24						c.(1273-1275)ctG>ctC		solute carrier family 7 (amino acid transporter light chain, L system), member 8	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)						160.0	138.0	145.0					14																	23597394		2203	4300	6503	SO:0001819	synonymous_variant	23428				blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity	g.chr14:23597394C>G	Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"""Solute carriers"""	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.1275G>C	14.37:g.23597394C>G			Somatic				SLC7A8_ENST00000453702.1_Silent_p.L222L|SLC7A8_ENST00000469263.1_Intron|SLC7A8_ENST00000529705.2_Silent_p.L320L|SLC7A8_ENST00000422941.2_Silent_p.L201L	p.L425L	NM_012244.3	NP_036376.2	WXS	Illumina GAIIx	Phase_I	Q9UHI5	LAT2_HUMAN		GBM - Glioblastoma multiforme(265;0.00809)	10	2000	-	all_cancers(95;4.6e-05)		425					B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Silent	SNP	ENST00000316902.7	37	c.1275G>C	CCDS9590.1																																																																																				0.582	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3			27	100	0	0	0	1	0	27	100				
FLRT2	23768	broad.mit.edu	37	14	86089641	86089641	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr14:86089641A>T	ENST00000330753.4	+	2	2550	c.1783A>T	c.(1783-1785)Aag>Tag	p.K595*	FLRT2_ENST00000554746.1_Nonsense_Mutation_p.K595*	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	595					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.K595*(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AGGCACCAAGAAGGACAACTC	0.478																																						ENST00000330753.4																			1	Substitution - Nonsense(1)	p.K595*(1)	kidney(1)	NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(1783-1785)Aag>Tag		fibronectin leucine rich transmembrane protein 2							111.0	118.0	116.0					14																	86089641		2203	4300	6503	SO:0001587	stop_gained	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089641A>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1783A>T	14.37:g.86089641A>T	ENSP00000332879:p.Lys595*		Somatic				FLRT2_ENST00000554746.1_Nonsense_Mutation_p.K595*	p.K595*	NM_013231.4	NP_037363.1	WXS	Illumina GAIIx	Phase_I	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	2550	+			595					A0AV84|B7ZLP3	Nonsense_Mutation	SNP	ENST00000330753.4	37	c.1783A>T	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	A	46	12.291422	0.99654	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.5994	16.8222	0.85835	1.0:0.0:0.0:0.0	.	.	.	.	X	595;595;248	.	ENSP00000332879:K595X	K	+	1	0	FLRT2	85159394	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.338000	0.96553	2.371000	0.80710	0.533000	0.62120	AAG		0.478	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			64	87	0	0	0	1	0	64	87				
TNIK	23043	broad.mit.edu	37	3	170802039	170802039	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:170802039A>T	ENST00000436636.2	-	26	3418	c.3074T>A	c.(3073-3075)gTa>gAa	p.V1025E	TNIK_ENST00000475336.1_Missense_Mutation_p.V933E|TNIK_ENST00000284483.8_Missense_Mutation_p.V1017E|TNIK_ENST00000369326.5_Missense_Mutation_p.V1003E|TNIK_ENST00000470834.1_Missense_Mutation_p.V988E|TNIK_ENST00000357327.5_Missense_Mutation_p.V996E|TNIK_ENST00000538048.1_Missense_Mutation_p.V977E|TNIK_ENST00000341852.6_Missense_Mutation_p.V941E|TNIK_ENST00000460047.1_Missense_Mutation_p.V962E|TNIK_ENST00000488470.1_Missense_Mutation_p.V970E	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1025	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GGTTGGGTTTACATTTACCAC	0.408																																						ENST00000436636.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(3073-3075)gTa>gAa		TRAF2 and NCK interacting kinase							143.0	139.0	140.0					3																	170802039		1863	4105	5968	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170802039A>T	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3074T>A	3.37:g.170802039A>T	ENSP00000399511:p.Val1025Glu		Somatic				TNIK_ENST00000475336.1_Missense_Mutation_p.V933E|TNIK_ENST00000284483.8_Missense_Mutation_p.V1017E|TNIK_ENST00000460047.1_Missense_Mutation_p.V962E|TNIK_ENST00000470834.1_Missense_Mutation_p.V988E|TNIK_ENST00000488470.1_Missense_Mutation_p.V970E|TNIK_ENST00000357327.5_Missense_Mutation_p.V996E|TNIK_ENST00000341852.6_Missense_Mutation_p.V941E|TNIK_ENST00000538048.1_Missense_Mutation_p.V977E|TNIK_ENST00000369326.5_Missense_Mutation_p.V1003E	p.V1025E	NM_015028.2	NP_055843.1	WXS	Illumina GAIIx	Phase_I	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		26	3418	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		1025			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.3074T>A	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.168451	0.78339	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	D;D;D;D;D;D;D;D;D;D	0.82711	-1.59;-1.59;-1.63;-1.61;-1.59;-1.6;-1.6;-1.64;-1.64;-1.59	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.91643	0.7359	M	0.82193	2.58	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.994;1.0;0.994;0.994;1.0;1.0;0.994;0.995	D;D;D;D;D;D;D;D	0.91635	0.986;0.998;0.986;0.986;0.999;0.998;0.986;0.94	D	0.92797	0.6253	10	0.87932	D	0	.	16.16	0.81698	1.0:0.0:0.0:0.0	.	933;988;962;941;1017;996;970;1025	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	E	1025;1003;977;941;1017;933;996;962;970;988	ENSP00000399511:V1025E;ENSP00000358332:V1003E;ENSP00000443278:V977E;ENSP00000345352:V941E;ENSP00000284483:V1017E;ENSP00000418156:V933E;ENSP00000349880:V996E;ENSP00000418916:V962E;ENSP00000418378:V970E;ENSP00000419990:V988E	ENSP00000284483:V1017E	V	-	2	0	TNIK	172284733	1.000000	0.71417	0.789000	0.31954	0.508000	0.34012	8.905000	0.92613	2.266000	0.75297	0.528000	0.53228	GTA		0.408	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		4	134	0	0	0	1	0	4	134				
FAM122C	159091	broad.mit.edu	37	X	133948799	133948799	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:133948799A>T	ENST00000370784.4	+	2	516		c.e2-1		FAM122C_ENST00000445123.1_Splice_Site|FAM122C_ENST00000414371.2_Splice_Site|FAM122C_ENST00000370785.3_Splice_Site	NM_001170779.1	NP_001164250.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C											endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					TTTTCTTTTTAGTTTTAATTC	0.338																																						ENST00000445123.1																			0				endometrium(2)|kidney(1)|lung(2)	5						c.e3-1		family with sequence similarity 122C							60.0	60.0	60.0					X																	133948799		2202	4300	6502	SO:0001630	splice_region_variant	159091							g.chrX:133948799A>T	BC017868	CCDS14644.1, CCDS55500.1, CCDS55501.1, CCDS76028.1	Xq26.3	2008-02-05	2006-07-11		ENSG00000156500	ENSG00000156500			25202	protein-coding gene	gene with protein product						12477932	Standard	NM_138819		Approved	RP3-473B4.1	uc004exz.2	Q6P4D5	OTTHUMG00000022716	ENST00000370784.4:c.111-1A>T	X.37:g.133948799A>T			Somatic				FAM122C_ENST00000370785.3_Splice_Site|FAM122C_ENST00000414371.2_Splice_Site|FAM122C_ENST00000370784.4_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q6P4D5	F222C_HUMAN			3	274	+	Acute lymphoblastic leukemia(192;0.000127)							F5H036|Q8WVK9	Splice_Site	SNP	ENST00000370784.4	37		CCDS55501.1	.	.	.	.	.	.	.	.	.	.	a	10.31	1.313542	0.23908	.	.	ENSG00000156500	ENST00000414371;ENST00000370784;ENST00000370785	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7226	0.46048	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM122C	133776465	1.000000	0.71417	0.663000	0.29738	0.151000	0.21798	4.668000	0.61568	1.800000	0.52685	0.466000	0.42574	.		0.338	FAM122C-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_138819	Intron	18	156	0	0	0	1	0	18	156				
GUF1	60558	broad.mit.edu	37	4	44696427	44696427	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr4:44696427A>T	ENST00000281543.5	+	14	1807		c.e14-1		RP11-700J17.1_ENST00000610260.1_RNA|GUF1_ENST00000506793.1_Splice_Site	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						TTTTCCTTTTAGTTTTGATTA	0.343																																						ENST00000281543.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.e14-1		GUF1 GTPase homolog (S. cerevisiae)							80.0	81.0	81.0					4																	44696427		2203	4297	6500	SO:0001630	splice_region_variant	60558				translation	mitochondrial inner membrane	GTP binding|GTPase activity	g.chr4:44696427A>T		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.1614-1A>T	4.37:g.44696427A>T			Somatic				GUF1_ENST00000506793.1_Splice_Site		NM_021927.2	NP_068746.2	WXS	Illumina GAIIx	Phase_I	Q8N442	GUF1_HUMAN			14	1807	+									Splice_Site	SNP	ENST00000281543.5	37		CCDS3468.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.789302	0.49997	.	.	ENSG00000151806	ENST00000281543	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6308	0.68655	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GUF1	44391184	1.000000	0.71417	0.956000	0.39512	0.701000	0.40568	8.881000	0.92415	2.055000	0.61198	0.482000	0.46254	.		0.343	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927	Intron	3	27	0	0	0	1	0	3	27				
TST	7263	broad.mit.edu	37	22	37414210	37414210	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:37414210G>C	ENST00000403892.3	-	1	1298	c.564C>G	c.(562-564)ttC>ttG	p.F188L	MPST_ENST00000397129.1_5'Flank|TST_ENST00000249042.3_Missense_Mutation_p.F188L|MPST_ENST00000401419.3_5'Flank|MPST_ENST00000429360.2_5'Flank|MPST_ENST00000341116.3_5'Flank|MPST_ENST00000404393.1_5'Flank|MPST_ENST00000404802.3_5'Flank	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	188	Rhodanese 2. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cellular nitrogen compound metabolic process (GO:0034641)|cyanate catabolic process (GO:0009440)|epithelial cell differentiation (GO:0030855)|rRNA import into mitochondrion (GO:0035928)|rRNA transport (GO:0051029)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|thiosulfate sulfurtransferase activity (GO:0004792)	p.F188L(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						CGGTGCCCAGGAACCGCCCTT	0.592																																						ENST00000403892.3																			1	Substitution - Missense(1)	p.F188L(1)	kidney(1)	kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(562-564)ttC>ttG		thiosulfate sulfurtransferase (rhodanese)							31.0	29.0	30.0					22																	37414210		2203	4300	6503	SO:0001583	missense	7263				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity	g.chr22:37414210G>C	Z73420	CCDS13938.1	22q13.1	2002-02-05			ENSG00000128311	ENSG00000128311	2.8.1.1		12388	protein-coding gene	gene with protein product		180370				1953758	Standard	NM_003312		Approved	RDS	uc003aqh.4	Q16762	OTTHUMG00000150533	ENST00000403892.3:c.564C>G	22.37:g.37414210G>C	ENSP00000385828:p.Phe188Leu		Somatic				TST_ENST00000249042.3_Missense_Mutation_p.F188L	p.F188L	NM_001270483.1	NP_001257412.1	WXS	Illumina GAIIx	Phase_I	Q16762	THTR_HUMAN			1	1298	-			188			Rhodanese 2.		B3KRM1|Q6IB06	Missense_Mutation	SNP	ENST00000403892.3	37	c.564C>G	CCDS13938.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245532	0.80024	.	.	ENSG00000128311	ENST00000403892;ENST00000249042;ENST00000413912	T;T	0.31247	1.5;1.5	4.93	4.93	0.64822	Rhodanese-like (5);	0.108407	0.64402	D	0.000007	T	0.70570	0.3239	H	0.99143	4.445	0.53005	D	0.999968	D	0.65815	0.995	D	0.69479	0.964	T	0.82182	-0.0584	10	0.87932	D	0	-22.303	12.0764	0.53647	0.0908:0.0:0.9092:0.0	.	188	Q16762	THTR_HUMAN	L	188	ENSP00000385828:F188L;ENSP00000249042:F188L	ENSP00000249042:F188L	F	-	3	2	TST	35744156	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.763000	0.55257	2.262000	0.75019	0.511000	0.50034	TTC		0.592	TST-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318790.1			2	2	0	0	0	1	0	2	2				
FAM221A	340277	broad.mit.edu	37	7	23731091	23731091	+	Silent	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:23731091T>A	ENST00000344962.4	+	4	602	c.513T>A	c.(511-513)acT>acA	p.T171T	FAM221A_ENST00000409192.3_Silent_p.T171T|FAM221A_ENST00000409994.3_Silent_p.T113T|FAM221A_ENST00000409653.1_Silent_p.T113T	NM_199136.3	NP_954587.2	A4D161	F221A_HUMAN	family with sequence similarity 221, member A	171																	TAGTGGAAACTAAGCAAGAAA	0.478																																						ENST00000344962.4																			0											c.(511-513)acT>acA		family with sequence similarity 221, member A							159.0	146.0	151.0					7																	23731091		2203	4300	6503	SO:0001819	synonymous_variant	340277							g.chr7:23731091T>A		CCDS5385.1, CCDS47561.1, CCDS47562.1, CCDS75570.1	7p15.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000188732	ENSG00000188732			27977	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 46"""	C7orf46		12477932	Standard	XR_242080		Approved	FLJ45875, MGC72075, DKFZp686F0810	uc003swo.4	A4D161	OTTHUMG00000128463	ENST00000344962.4:c.513T>A	7.37:g.23731091T>A			Somatic				FAM221A_ENST00000409653.1_Silent_p.T113T|FAM221A_ENST00000409994.3_Silent_p.T113T|FAM221A_ENST00000409192.3_Silent_p.T171T	p.T171T	NM_199136.3	NP_954587.2	WXS	Illumina GAIIx	Phase_I	A4D161	CG046_HUMAN			4	602	+			171					Q05CG4|Q4G0Q7|Q6P519	Silent	SNP	ENST00000344962.4	37	c.513T>A	CCDS5385.1																																																																																				0.478	FAM221A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250261.1	NM_199136		7	388	0	0	0	1	0	7	388				
COL5A2	1290	broad.mit.edu	37	2	189914113	189914113	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:189914113G>A	ENST00000374866.3	-	44	3381	c.3107C>T	c.(3106-3108)cCc>cTc	p.P1036L		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1036					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.P1036L(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGAGCCTGGGGGCCCCACAGG	0.458																																						ENST00000374866.3																			1	Substitution - Missense(1)	p.P1036L(1)	kidney(1)	NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(3106-3108)cCc>cTc		collagen, type V, alpha 2							58.0	56.0	57.0					2																	189914113		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189914113G>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3107C>T	2.37:g.189914113G>A	ENSP00000364000:p.Pro1036Leu		Somatic					p.P1036L	NM_000393.3	NP_000384.2	WXS	Illumina GAIIx	Phase_I	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		44	3381	-			1036					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.3107C>T	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941279	0.34283	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.96685	-4.09	5.6	5.6	0.85130	.	0.328616	0.22606	N	0.057889	D	0.93220	0.7840	L	0.50847	1.595	0.21782	N	0.999545	B;B	0.06786	0.0;0.001	B;B	0.11329	0.001;0.006	T	0.82176	-0.0587	9	.	.	.	.	9.0076	0.36122	0.0749:0.0:0.767:0.1581	.	676;1036	Q5PR22;P05997	.;CO5A2_HUMAN	L	1036;676	ENSP00000364000:P1036L	.	P	-	2	0	COL5A2	189622358	1.000000	0.71417	0.992000	0.48379	0.854000	0.48673	3.770000	0.55310	2.932000	0.99384	0.644000	0.83932	CCC		0.458	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		10	14	0	0	0	1	0	10	14				
RNF31	55072	broad.mit.edu	37	14	24629158	24629158	+	Silent	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr14:24629158C>T	ENST00000324103.6	+	19	3305	c.2985C>T	c.(2983-2985)gcC>gcT	p.A995A	RNF31_ENST00000382687.3_Silent_p.A844A|IRF9_ENST00000557894.1_5'Flank|RP11-468E2.4_ENST00000558468.1_Silent_p.A470A|RNF31_ENST00000559275.1_Silent_p.A844A|RNA5SP383_ENST00000362934.1_RNA|IRF9_ENST00000396864.3_5'Flank	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	995	LDD domain.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CTGGCTATGCCGGCCTGTGCC	0.592																																						ENST00000558468.1																			0											c.(1408-1410)gcC>gcT									90.0	95.0	94.0					14																	24629158		2042	4197	6239	SO:0001819	synonymous_variant	10379							g.chr14:24629158C>T	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.2985C>T	14.37:g.24629158C>T			Somatic				RNF31_ENST00000382687.3_Silent_p.A844A|RNF31_ENST00000324103.6_Silent_p.A995A|RNF31_ENST00000559275.1_Silent_p.A844A	p.A470A			WXS	Illumina GAIIx	Phase_I					11	1410	+								A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Silent	SNP	ENST00000324103.6	37	c.1410C>T	CCDS41931.1																																																																																				0.592	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		4	348	0	0	0	1	0	4	348				
VWA3B	200403	broad.mit.edu	37	2	98887143	98887143	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:98887143A>T	ENST00000477737.1	+	22	3047		c.e22-1		VWA3B_ENST00000490947.2_Splice_Site	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B											NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						tttgtttTTTAGGTTAGATGC	0.318																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.e22-1		von Willebrand factor A domain containing 3B							58.0	56.0	57.0					2																	98887143		1807	4074	5881	SO:0001630	splice_region_variant	200403							g.chr2:98887143A>T	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2844-1A>T	2.37:g.98887143A>T			Somatic				VWA3B_ENST00000490947.2_Splice_Site		NM_144992.4	NP_659429.4	WXS	Illumina GAIIx	Phase_I	Q502W6	VWA3B_HUMAN			22	3047	+								B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Splice_Site	SNP	ENST00000477737.1	37		CCDS42718.1	.	.	.	.	.	.	.	.	.	.	A	16.01	3.001228	0.54254	.	.	ENSG00000168658	ENST00000477737;ENST00000473149;ENST00000358269	.	.	.	4.36	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4525	0.50160	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VWA3B	98253575	0.997000	0.39634	0.891000	0.34965	0.806000	0.45545	4.563000	0.60823	1.958000	0.56883	0.533000	0.62120	.		0.318	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992	Intron	5	86	0	0	0	1	0	5	86				
ALG10	84920	broad.mit.edu	37	12	34178919	34178919	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:34178919A>T	ENST00000266483.2	+	3	810	c.491A>T	c.(490-492)tAt>tTt	p.Y164F	RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron|AC046130.1_ENST00000401300.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	164					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				CTTTTTGCGTATTTGATGTGT	0.343																																						ENST00000266483.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(490-492)tAt>tTt		ALG10, alpha-1,2-glucosyltransferase							205.0	208.0	207.0					12																	34178919		2203	4299	6502	SO:0001583	missense	84920				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:34178919A>T	AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"""derepression of ITR1 expression 2 homolog (S. cerevisiae)"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""	603313	"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)"", ""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"""				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.491A>T	12.37:g.34178919A>T	ENSP00000266483:p.Tyr164Phe		Somatic				ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	p.Y164F	NM_032834.3	NP_116223.3	WXS	Illumina GAIIx	Phase_I	Q5BKT4	AG10A_HUMAN			3	810	+	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)	164					Q6NS98|Q96DU0|Q96SM6	Missense_Mutation	SNP	ENST00000266483.2	37	c.491A>T	CCDS41769.1	.	.	.	.	.	.	.	.	.	.	A	17.08	3.297657	0.60086	.	.	ENSG00000139133	ENST00000266483	T	0.57907	0.37	3.13	3.13	0.36017	.	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	M	0.73430	2.235	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67397	-0.5681	10	0.42905	T	0.14	.	9.6518	0.39902	1.0:0.0:0.0:0.0	.	164	Q5BKT4	AG10A_HUMAN	F	164	ENSP00000266483:Y164F	ENSP00000266483:Y164F	Y	+	2	0	ALG10	34070186	1.000000	0.71417	0.993000	0.49108	0.746000	0.42486	8.928000	0.92853	1.223000	0.43536	0.155000	0.16302	TAT		0.343	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403309.1	NM_032834		5	220	0	0	0	1	0	5	220				
ABCA13	154664	broad.mit.edu	37	7	48411763	48411763	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:48411763A>T	ENST00000435803.1	+	33	10827		c.e33-1			NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13						transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCTTTTTGGTAGTATATGCGG	0.468																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.e33-1		ATP-binding cassette, sub-family A (ABC1), member 13							123.0	114.0	117.0					7																	48411763		1970	4145	6115	SO:0001630	splice_region_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48411763A>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.10804-1A>T	7.37:g.48411763A>T			Somatic						NM_152701.3	NP_689914.2	WXS	Illumina GAIIx	Phase_I	Q86UQ4	ABCAD_HUMAN			33	10827	+								K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Splice_Site	SNP	ENST00000435803.1	37		CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	12.98	2.100703	0.37048	.	.	ENSG00000179869	ENST00000435803	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5635	0.76269	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCA13	48382309	1.000000	0.71417	0.963000	0.40424	0.101000	0.19017	8.023000	0.88764	2.326000	0.78906	0.533000	0.62120	.		0.468	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	Intron	4	121	0	0	0	1	0	4	121				
PTGER3	5733	broad.mit.edu	37	1	71418744	71418744	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:71418744T>A	ENST00000414819.1	-	5	1427		c.e5-2		PTGER3_ENST00000354608.5_Intron|RP3-333A15.1_ENST00000426775.1_RNA|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000356595.4_Splice_Site	NM_001126044.1	NP_001119516.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)						cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	gcagattaactaaccacagat	0.313																																						ENST00000414819.1																			0				endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.e5-2		prostaglandin E receptor 3 (subtype EP3)	Bimatoprost(DB00905)						106.0	94.0	98.0					1																	71418744		2203	4300	6503	SO:0001630	splice_region_variant	5733				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	g.chr1:71418744T>A	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000414819.1:c.1171-2A>T	1.37:g.71418744T>A			Somatic				PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000356595.4_Splice_Site|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000460330.1_Intron		NM_001126044.1	NP_001119516.1	WXS	Illumina GAIIx	Phase_I	P43115	PE2R3_HUMAN			5	1427	-								B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Splice_Site	SNP	ENST00000414819.1	37		CCDS656.1																																																																																				0.313	PTGER3-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026077.1	NM_000957	Intron	11	134	0	0	0	1	0	11	134				
SEC22B	9554	broad.mit.edu	37	1	145109560	145109560	+	RNA	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:145109560A>T	ENST00000453618.1	+	0	549							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											ATTTGGTTTTATGTGAAGCTG	0.418																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)							395.0	384.0	388.0					1																	145109560		2042	4195	6237			9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109560A>T	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109560A>T			Somatic								WXS	Illumina GAIIx	Phase_I	O75396	SC22B_HUMAN			0	549	+								A8K1G0	RNA	SNP	ENST00000453618.1	37																																																																																						0.418	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		7	666	0	0	0	1	0	7	666				
FLG	2312	broad.mit.edu	37	1	152279938	152279938	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:152279938C>G	ENST00000368799.1	-	3	7459	c.7424G>C	c.(7423-7425)gGa>gCa	p.G2475A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2475	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G2475A(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTAGTGGGATCCCTGCCTTCC	0.577									Ichthyosis																													ENST00000368799.1																			1	Substitution - Missense(1)	p.G2475A(1)	kidney(1)	autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(7423-7425)gGa>gCa		filaggrin							368.0	340.0	349.0					1																	152279938		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279938C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7424G>C	1.37:g.152279938C>G	ENSP00000357789:p.Gly2475Ala		Somatic				FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.G2475A	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7459	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2475			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.7424G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241438	0.22711	.	.	ENSG00000143631	ENST00000368799	T	0.07114	3.22	3.41	-0.305	0.12784	.	.	.	.	.	T	0.05914	0.0154	M	0.82517	2.595	0.09310	N	1	D	0.55172	0.97	P	0.48704	0.587	T	0.28522	-1.0041	9	0.22109	T	0.4	.	6.3157	0.21188	0.0:0.5924:0.0:0.4076	.	2475	P20930	FILA_HUMAN	A	2475	ENSP00000357789:G2475A	ENSP00000357789:G2475A	G	-	2	0	FLG	150546562	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.244000	0.00542	0.000000	0.14550	0.306000	0.20318	GGA		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		123	500	0	0	0	1	0	123	500				
MRPS5	64969	broad.mit.edu	37	2	95775710	95775710	+	Silent	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:95775710A>T	ENST00000272418.2	-	4	562	c.354T>A	c.(352-354)acT>acA	p.T118T		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	118					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TCTTCTTTTTAGTTCTTTTGC	0.393																																						ENST00000272418.2																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(352-354)acT>acA		mitochondrial ribosomal protein S5							83.0	86.0	85.0					2																	95775710		2203	4300	6503	SO:0001819	synonymous_variant	64969				translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	g.chr2:95775710A>T	AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.354T>A	2.37:g.95775710A>T			Somatic					p.T118T	NM_031902.3	NP_114108.1	WXS	Illumina GAIIx	Phase_I	P82675	RT05_HUMAN			4	562	-			118					Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Silent	SNP	ENST00000272418.2	37	c.354T>A	CCDS2010.1																																																																																				0.393	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902		8	139	0	0	0	1	0	8	139				
MDC1	9656	broad.mit.edu	37	6	30681890	30681890	+	Silent	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:30681890T>C	ENST00000376406.3	-	3	854	c.207A>G	c.(205-207)ccA>ccG	p.P69P	MDC1_ENST00000376405.2_Silent_p.P69P|MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000494654.1_5'Flank	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	69	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.|Interaction with CHEK2.|Interaction with the MRN complex.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TGGAGATAGATGGAAAGGGCA	0.488								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(205-207)ccA>ccG	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							91.0	78.0	82.0					6																	30681890		1510	2709	4219	SO:0001819	synonymous_variant	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30681890T>C	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.207A>G	6.37:g.30681890T>C			Somatic				MDC1_ENST00000376405.2_Silent_p.P69P	p.P69P	NM_014641.2	NP_055456.2	WXS	Illumina GAIIx	Phase_I	Q14676	MDC1_HUMAN			3	854	-			69			FHA.|Interaction with CHEK2.|Interaction with the MRN complex.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	c.207A>G	CCDS34384.1																																																																																				0.488	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		4	216	0	0	0	1	0	4	216				
WDR90	197335	broad.mit.edu	37	16	700616	700616	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr16:700616C>G	ENST00000293879.4	+	5	466	c.466C>G	c.(466-468)Ctg>Gtg	p.L156V	AL022341.3_ENST00000455294.1_RNA|WDR90_ENST00000549091.1_Missense_Mutation_p.L156V			Q96KV7	WDR90_HUMAN	WD repeat domain 90	156								p.L156V(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCTGGTCTACCTGAACCGGTG	0.627																																						ENST00000549091.1																			1	Substitution - Missense(1)	p.L156V(1)	kidney(1)	endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(466-468)Ctg>Gtg		WD repeat domain 90							48.0	56.0	54.0					16																	700616		2057	4184	6241	SO:0001583	missense	197335							g.chr16:700616C>G	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.466C>G	16.37:g.700616C>G	ENSP00000293879:p.Leu156Val		Somatic				WDR90_ENST00000293879.4_Missense_Mutation_p.L156V	p.L156V	NM_145294.4	NP_660337.3	WXS	Illumina GAIIx	Phase_I	Q96KV7	WDR90_HUMAN			5	558	+		Hepatocellular(780;0.0218)	156					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.466C>G	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247660	0.39697	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.37584	1.19;1.19	5.18	3.21	0.36854	.	0.111883	0.37012	N	0.002300	T	0.44705	0.1306	M	0.62723	1.935	0.80722	D	1	D;P;P	0.56521	0.976;0.896;0.75	P;B;B	0.52823	0.71;0.416;0.292	T	0.33727	-0.9857	10	0.51188	T	0.08	.	9.9148	0.41427	0.0:0.6666:0.2599:0.0735	.	156;156;156	Q96KV7;C9JMK1;Q96KV7-3	WDR90_HUMAN;.;.	V	156	ENSP00000448122:L156V;ENSP00000293879:L156V	ENSP00000293879:L156V	L	+	1	2	WDR90	640617	1.000000	0.71417	0.216000	0.23742	0.070000	0.16714	1.863000	0.39459	0.572000	0.29383	0.563000	0.77884	CTG		0.627	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		5	13	0	0	0	1	0	5	13				
PTGDS	5730	broad.mit.edu	37	9	139873535	139873535	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:139873535G>A	ENST00000371625.3	+	2	279	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	PTGDS_ENST00000224167.2_Missense_Mutation_p.V69M|RP11-229P13.19_ENST00000413913.2_RNA|PTGDS_ENST00000460340.1_3'UTR	NM_000954.5	NP_000945.3	P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	69					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|rough endoplasmic reticulum (GO:0005791)	fatty acid binding (GO:0005504)|prostaglandin-D synthase activity (GO:0004667)|retinoid binding (GO:0005501)|transporter activity (GO:0005215)	p.V69M(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CAAGTCTGTGGTGGCCCCTGC	0.672																																						ENST00000224167.2																			1	Substitution - Missense(1)	p.V69M(1)	kidney(1)	endometrium(2)|kidney(1)|lung(3)|ovary(1)	7						c.(205-207)Gtg>Atg		prostaglandin D2 synthase 21kDa (brain)							69.0	69.0	69.0					9																	139873535		2203	4299	6502	SO:0001583	missense	5730				prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity	g.chr9:139873535G>A	AA621632	CCDS7019.1	9q34.2-q34.3	2011-11-15	2002-08-29		ENSG00000107317	ENSG00000107317	5.3.99.2	"""Lipocalins"""	9592	protein-coding gene	gene with protein product	"""lipocalin-type prostaglandin D synthase"""	176803	"""prostaglandin D2 synthase (21kD, brain)"""			1902577	Standard	NM_000954		Approved	PGDS, L-PGDS	uc004cke.3	P41222	OTTHUMG00000020957	ENST00000371625.3:c.205G>A	9.37:g.139873535G>A	ENSP00000360687:p.Val69Met		Somatic				PTGDS_ENST00000460340.1_3'UTR|PTGDS_ENST00000371625.3_Missense_Mutation_p.V69M	p.V69M			WXS	Illumina GAIIx	Phase_I	P41222	PTGDS_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	2	280	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	69					B2R727|Q5SQ10|Q7M4P3|Q9UC22|Q9UCC9|Q9UCD9	Missense_Mutation	SNP	ENST00000371625.3	37	c.205G>A	CCDS7019.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	22.1|22.1	4.246538|4.246538	0.80024|0.80024	.|.	.|.	ENSG00000107317|ENSG00000107317	ENST00000446677|ENST00000224167;ENST00000457950;ENST00000371625;ENST00000371623	.|T;T;T;T	.|0.09073	.|3.02;3.02;3.02;3.02	4.28|4.28	1.18|1.18	0.20946|0.20946	.|Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	.|0.280362	.|0.24779	.|N	.|0.035664	T|T	0.18676|0.18676	0.0448|0.0448	M|M	0.70903|0.70903	2.155|2.155	0.09310|0.09310	N|N	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.79784	.|0.993	T|T	0.05162|0.05162	-1.0902|-1.0902	5|10	.|0.42905	.|T	.|0.14	-11.7164|-11.7164	2.3977|2.3977	0.04394|0.04394	0.2006:0.1563:0.5008:0.1422|0.2006:0.1563:0.5008:0.1422	.|.	.|69	.|P41222	.|PTGDS_HUMAN	D|M	91|69	.|ENSP00000224167:V69M;ENSP00000392633:V69M;ENSP00000360687:V69M;ENSP00000360685:V69M	.|ENSP00000224167:V69M	G|V	+|+	2|1	0|0	PTGDS|PTGDS	138993356|138993356	0.001000|0.001000	0.12720|0.12720	0.075000|0.075000	0.20258|0.20258	0.771000|0.771000	0.43674|0.43674	-0.003000|-0.003000	0.12901|0.12901	0.783000|0.783000	0.33636|0.33636	0.436000|0.436000	0.28706|0.28706	GGT|GTG		0.672	PTGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055188.1	NM_000954		11	13	0	0	0	1	0	11	13				
EP300	2033	broad.mit.edu	37	22	41573941	41573941	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:41573941G>T	ENST00000263253.7	+	31	7445	c.6226G>T	c.(6226-6228)Gcc>Tcc	p.A2076S	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2076	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TATCCTTCACGCCAACCCCCA	0.572			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(6226-6228)Gcc>Tcc		E1A binding protein p300							75.0	76.0	75.0					22																	41573941		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41573941G>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6226G>T	22.37:g.41573941G>T	ENSP00000263253:p.Ala2076Ser		Somatic				RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	p.A2076S	NM_001429.3	NP_001420.2	WXS	Illumina GAIIx	Phase_I	Q09472	EP300_HUMAN			31	7445	+			2076			Interaction with HTLV-1 Tax.|Interaction with NCOA2.		B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.6226G>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	1.134	-0.651612	0.03506	.	.	ENSG00000100393	ENST00000263253	T	0.79653	-1.29	5.0	2.77	0.32553	Nuclear receptor coactivator, CREB-bp-like, interlocking (2);Nuclear receptor coactivator, interlocking (1);	0.141977	0.31495	N	0.007550	T	0.44138	0.1279	N	0.00801	-1.175	0.33075	D	0.535877	B	0.09022	0.002	B	0.14578	0.011	T	0.52109	-0.8619	10	0.02654	T	1	-7.0507	6.4588	0.21944	0.0934:0.0:0.5481:0.3585	.	2076	Q09472	EP300_HUMAN	S	2076	ENSP00000263253:A2076S	ENSP00000263253:A2076S	A	+	1	0	EP300	39903887	1.000000	0.71417	0.964000	0.40570	0.738000	0.42128	4.504000	0.60414	1.109000	0.41680	-0.258000	0.10820	GCC		0.572	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		7	267	1	0	5.68852e-11	1	6.18318e-11	7	267				
LAMTOR4	389541	broad.mit.edu	37	7	99751111	99751111	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:99751111G>A	ENST00000341942.5	+	3	239	c.173G>A	c.(172-174)gGc>gAc	p.G58D	LAMTOR4_ENST00000468582.1_3'UTR|C7orf43_ENST00000498638.1_5'Flank|LAMTOR4_ENST00000441173.1_Missense_Mutation_p.G58D	NM_001008395.2	NP_001008396.1	Q0VGL1	LTOR4_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 4	58					cellular response to amino acid stimulus (GO:0071230)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|Ragulator complex (GO:0071986)											CTGCACCGCGGCATGAATGTG	0.637																																						ENST00000441173.1																			0											c.(172-174)gGc>gAc		late endosomal/lysosomal adaptor, MAPK and MTOR activator 4							87.0	85.0	86.0					7																	99751111		2203	4300	6503	SO:0001583	missense	389541							g.chr7:99751111G>A		CCDS34702.1	7q22	2012-09-24	2012-09-24	2012-09-24	ENSG00000188186	ENSG00000188186			33772	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 59"""	C7orf59		22980980	Standard	NM_001008395		Approved		uc003utq.2	Q0VGL1	OTTHUMG00000154854	ENST00000341942.5:c.173G>A	7.37:g.99751111G>A	ENSP00000343118:p.Gly58Asp		Somatic				LAMTOR4_ENST00000468582.1_3'UTR|LAMTOR4_ENST00000341942.5_Missense_Mutation_p.G58D	p.G58D			WXS	Illumina GAIIx	Phase_I					3	208	+									Missense_Mutation	SNP	ENST00000341942.5	37	c.173G>A	CCDS34702.1	.	.	.	.	.	.	.	.	.	.	g	3.571	-0.087664	0.07097	.	.	ENSG00000188186	ENST00000341942;ENST00000441173	T	0.15834	2.39	5.3	4.35	0.52113	.	0.281535	0.35615	N	0.003095	T	0.09069	0.0224	.	.	.	0.32908	D	0.514125	B	0.02656	0.0	B	0.04013	0.001	T	0.13495	-1.0507	9	0.11485	T	0.65	-13.3986	11.3953	0.49838	0.0:0.1825:0.8174:0.0	.	58	Q0VGL1	CG059_HUMAN	D	58	ENSP00000343118:G58D	ENSP00000343118:G58D	G	+	2	0	C7orf59	99589047	0.998000	0.40836	0.955000	0.39395	0.171000	0.22731	3.323000	0.52014	2.621000	0.88768	0.655000	0.94253	GGC		0.637	LAMTOR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337373.2	NM_001008395		4	256	0	0	0	1	0	4	256				
TMOD1	7111	broad.mit.edu	37	9	100286421	100286421	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:100286421A>T	ENST00000259365.4	+	2	165		c.e2-1		TMOD1_ENST00000395211.2_Splice_Site	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1						adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		TCTTTCTGGTAGGTATTACTC	0.453																																						ENST00000395211.2																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11						c.e2-1		tropomodulin 1							64.0	60.0	62.0					9																	100286421		2203	4300	6503	SO:0001630	splice_region_variant	7111				muscle filament sliding	cytosol	actin binding	g.chr9:100286421A>T		CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.-48-1A>T	9.37:g.100286421A>T			Somatic				TMOD1_ENST00000259365.3_Splice_Site		NM_001166116.1	NP_001159588.1	WXS	Illumina GAIIx	Phase_I	P28289	TMOD1_HUMAN		STAD - Stomach adenocarcinoma(157;0.105)	2	88	+		Acute lymphoblastic leukemia(62;0.154)						B2RB77|Q5T7W3|Q9BUF1	Splice_Site	SNP	ENST00000259365.4	37		CCDS6726.1																																																																																				0.453	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053320.2	NM_003275	Intron	5	182	0	0	0	1	0	5	182				
MRPL10	124995	broad.mit.edu	37	17	45904124	45904124	+	Silent	SNP	A	A	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:45904124A>G	ENST00000351111.2	-	4	416	c.411T>C	c.(409-411)gaT>gaC	p.D137D	MRPL10_ENST00000290208.7_Silent_p.D147D|MRPL10_ENST00000414011.1_Silent_p.D147D	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	137					ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						GGTACTTGGAATCCTCCAGGA	0.532																																						ENST00000290208.7																			0				endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						c.(439-441)gaT>gaC		mitochondrial ribosomal protein L10							62.0	57.0	58.0					17																	45904124		2203	4300	6503	SO:0001819	synonymous_variant	124995				ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr17:45904124A>G	AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"""Mitochondrial ribosomal proteins / large subunits"""	14055	protein-coding gene	gene with protein product	"""39S ribosomal protein L10, mitochondrial"""	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.411T>C	17.37:g.45904124A>G			Somatic				MRPL10_ENST00000414011.1_Silent_p.D147D|MRPL10_ENST00000351111.2_Silent_p.D137D	p.D147D			WXS	Illumina GAIIx	Phase_I	Q7Z7H8	RM10_HUMAN			4	893	-			137					A6NGJ4|Q96B80|Q96Q55	Silent	SNP	ENST00000351111.2	37	c.441T>C	CCDS11516.1																																																																																				0.532	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343764.1	NM_145255		4	213	0	0	0	1	0	4	213				
IFT74	80173	broad.mit.edu	37	9	26988665	26988665	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:26988665A>T	ENST00000443698.1	+	7	636		c.e7-1		IFT74_ENST00000433700.1_Splice_Site|IFT74_ENST00000429045.2_Splice_Site|IFT74_ENST00000380062.5_Splice_Site	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74						cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|keratinocyte development (GO:0003334)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|nucleus (GO:0005634)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		TTTTGTTTTTAGTTGGTAGAT	0.254																																						ENST00000443698.1																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						c.e7-1		intraflagellar transport 74 homolog (Chlamydomonas)							25.0	28.0	27.0					9																	26988665		1781	4010	5791	SO:0001630	splice_region_variant	80173					cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum		g.chr9:26988665A>T	AK023707	CCDS43793.1, CCDS47955.1	9p21.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000096872	ENSG00000096872		"""Intraflagellar transport homologs"""	21424	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 1"""	608040	"""coiled-coil domain containing 2"", ""intraflagellar transport 74 homolog (Chlamydomonas)"""	CCDC2		11683410	Standard	NM_001099223		Approved	CMG1, CMG-1, FLJ22621	uc003zqg.4	Q96LB3	OTTHUMG00000021028	ENST00000443698.1:c.466-1A>T	9.37:g.26988665A>T			Somatic				IFT74_ENST00000429045.2_Splice_Site|IFT74_ENST00000433700.1_Splice_Site|IFT74_ENST00000380062.5_Splice_Site		NM_001099222.1	NP_001092692.1	WXS	Illumina GAIIx	Phase_I	Q96LB3	IFT74_HUMAN		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)	7	636	+		all_neural(11;2.36e-10)						Q3B789|Q5VY34|Q6PGQ8|Q9H643|Q9H8G7	Splice_Site	SNP	ENST00000443698.1	37		CCDS43793.1	.	.	.	.	.	.	.	.	.	.	A	16.59	3.165966	0.57476	.	.	ENSG00000096872	ENST00000519968;ENST00000433700;ENST00000443698;ENST00000380062;ENST00000544022;ENST00000429045;ENST00000517866	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9303	0.79654	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IFT74	26978665	1.000000	0.71417	0.999000	0.59377	0.589000	0.36550	8.446000	0.90329	2.229000	0.72834	0.397000	0.26171	.		0.254	IFT74-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055476.2	NM_025103	Intron	3	10	0	0	0	1	0	3	10				
HLTF	6596	broad.mit.edu	37	3	148789117	148789117	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:148789117A>T	ENST00000310053.5	-	7	1009	c.816T>A	c.(814-816)taT>taA	p.Y272*	HLTF_ENST00000465259.1_Nonsense_Mutation_p.Y272*|HLTF_ENST00000392912.2_Nonsense_Mutation_p.Y272*|HLTF_ENST00000494055.1_Nonsense_Mutation_p.Y272*	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	272					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTATTGTGTTATAGTATAAGT	0.373																																						ENST00000310053.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(814-816)taT>taA		helicase-like transcription factor							116.0	114.0	115.0					3																	148789117		2203	4300	6503	SO:0001587	stop_gained	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148789117A>T	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.816T>A	3.37:g.148789117A>T	ENSP00000308944:p.Tyr272*		Somatic				HLTF_ENST00000465259.1_Nonsense_Mutation_p.Y272*|HLTF_ENST00000392912.2_Nonsense_Mutation_p.Y272*|HLTF_ENST00000494055.1_Nonsense_Mutation_p.Y272*	p.Y272*	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	WXS	Illumina GAIIx	Phase_I	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		7	1009	-			272					D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Nonsense_Mutation	SNP	ENST00000310053.5	37	c.816T>A	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	A	38	6.695457	0.97768	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000416117;ENST00000392913	.	.	.	5.28	-1.3	0.09259	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6248	11.2925	0.49258	0.3914:0.0:0.6086:0.0	.	.	.	.	X	272;272;272;272;269;269	.	ENSP00000308944:Y272X	Y	-	3	2	HLTF	150271807	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	1.278000	0.33179	-0.145000	0.11294	0.533000	0.62120	TAT		0.373	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			5	53	0	0	0	1	0	5	53				
ZNF253	56242	broad.mit.edu	37	19	20002281	20002281	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:20002281A>T	ENST00000589717.1	+	4	318		c.e4-1		ZNF253_ENST00000355650.4_Splice_Site|CTC-559E9.8_ENST00000585571.1_RNA|AC011477.1_ENST00000578823.1_RNA	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253						negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGTTTCTTTTAGTTATGAGTT	0.313																																						ENST00000589717.1																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.e4-1		zinc finger protein 253							25.0	25.0	25.0					19																	20002281		2092	4245	6337	SO:0001630	splice_region_variant	56242				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20002281A>T	AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"""Zinc fingers, C2H2-type"", ""-"""	13497	protein-coding gene	gene with protein product		606954	"""zinc finger protein 411"""	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.227-1A>T	19.37:g.20002281A>T			Somatic				ZNF253_ENST00000355650.4_Splice_Site		NM_021047.2	NP_066385.2	WXS	Illumina GAIIx	Phase_I	O75346	ZN253_HUMAN			4	318	+								A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Splice_Site	SNP	ENST00000589717.1	37		CCDS42532.1	.	.	.	.	.	.	.	.	.	.	.	3.790	-0.043857	0.07452	.	.	ENSG00000256771	ENST00000355650	.	.	.	0.185	0.185	0.15096	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.6115	0.04892	0.5567:0.0:0.4433:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF253	19863281	0.000000	0.05858	0.254000	0.24359	0.185000	0.23345	-0.081000	0.11321	0.251000	0.21505	0.248000	0.18094	.		0.313	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460802.1	NM_021047	Intron	3	16	0	0	0	1	0	3	16				
HS6ST2	90161	broad.mit.edu	37	X	131762678	131762678	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:131762678G>T	ENST00000370836.2	-	4	1806	c.1391C>A	c.(1390-1392)gCc>gAc	p.A464D	HS6ST2_ENST00000370833.2_Missense_Mutation_p.A358D|HS6ST2_ENST00000406696.3_Missense_Mutation_p.A190D|HS6ST2_ENST00000521489.1_Missense_Mutation_p.A504D	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	464					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					TACACTAGAGGCCCTAGTGGT	0.408																																						ENST00000370836.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9						c.(1390-1392)gCc>gAc		heparan sulfate 6-O-sulfotransferase 2							134.0	125.0	128.0					X																	131762678		1853	4090	5943	SO:0001583	missense	90161					integral to membrane	sulfotransferase activity	g.chrX:131762678G>T	AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"""Sulfotransferases, membrane-bound"""	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.1391C>A	X.37:g.131762678G>T	ENSP00000359873:p.Ala464Asp		Somatic				HS6ST2_ENST00000521489.1_Missense_Mutation_p.A504D|HS6ST2_ENST00000370833.2_Missense_Mutation_p.A358D|HS6ST2_ENST00000370837.1_Missense_Mutation_p.A318D|HS6ST2_ENST00000406696.3_Missense_Mutation_p.A190D	p.A464D	NM_147175.3	NP_671704.3	WXS	Illumina GAIIx	Phase_I	Q96MM7	H6ST2_HUMAN			4	1806	-	Acute lymphoblastic leukemia(192;0.000127)		464					B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Missense_Mutation	SNP	ENST00000370836.2	37	c.1391C>A	CCDS48169.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843305	0.71488	.	.	ENSG00000171004	ENST00000370837;ENST00000370836;ENST00000521489;ENST00000406696;ENST00000370833	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.86640	0.5981	M	0.75777	2.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.995;0.999	D	0.87529	0.2451	10	0.87932	D	0	-0.8056	18.3084	0.90190	0.0:0.0:1.0:0.0	.	464;504;190	Q96MM7;E9PDY5;B7Z5H6	H6ST2_HUMAN;.;.	D	318;464;504;190;358	ENSP00000359874:A318D;ENSP00000359873:A464D;ENSP00000429473:A504D;ENSP00000384013:A190D;ENSP00000359870:A358D	ENSP00000359870:A358D	A	-	2	0	HS6ST2	131590359	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.869000	0.99810	2.549000	0.85964	0.600000	0.82982	GCC		0.408	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058332.3	NM_147174		6	328	1	0	3.59834e-05	1	3.76133e-05	6	328				
FAM122C	159091	broad.mit.edu	37	X	133948805	133948805	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:133948805A>T	ENST00000370784.4	+	2	521	c.115A>T	c.(115-117)Aat>Tat	p.N39Y	FAM122C_ENST00000445123.1_5'UTR|FAM122C_ENST00000414371.2_Missense_Mutation_p.N75Y|FAM122C_ENST00000370785.3_Missense_Mutation_p.N39Y	NM_001170779.1	NP_001164250.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	39										endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					TTTTAGTTTTAATTCACAGGT	0.343																																						ENST00000414371.2																			0				endometrium(2)|kidney(1)|lung(2)	5						c.(223-225)Aat>Tat		family with sequence similarity 122C							70.0	70.0	70.0					X																	133948805		2203	4300	6503	SO:0001583	missense	159091							g.chrX:133948805A>T	BC017868	CCDS14644.1, CCDS55500.1, CCDS55501.1, CCDS76028.1	Xq26.3	2008-02-05	2006-07-11		ENSG00000156500	ENSG00000156500			25202	protein-coding gene	gene with protein product						12477932	Standard	NM_138819		Approved	RP3-473B4.1	uc004exz.2	Q6P4D5	OTTHUMG00000022716	ENST00000370784.4:c.115A>T	X.37:g.133948805A>T	ENSP00000359820:p.Asn39Tyr		Somatic				FAM122C_ENST00000370785.3_Missense_Mutation_p.N39Y|FAM122C_ENST00000445123.1_5'UTR|FAM122C_ENST00000370784.4_Missense_Mutation_p.N39Y	p.N75Y	NM_001170780.1|NM_001170784.1	NP_001164251.1|NP_001164255.1	WXS	Illumina GAIIx	Phase_I	Q6P4D5	F222C_HUMAN			4	396	+	Acute lymphoblastic leukemia(192;0.000127)		39					F5H036|Q8WVK9	Missense_Mutation	SNP	ENST00000370784.4	37	c.223A>T	CCDS55501.1	.	.	.	.	.	.	.	.	.	.	a	3.108	-0.183211	0.06340	.	.	ENSG00000156500	ENST00000414371;ENST00000370784;ENST00000370785	T;T;T	0.56103	0.48;0.48;0.48	5.33	1.48	0.22813	.	0.150932	0.64402	D	0.000020	T	0.58793	0.2147	L	0.49778	1.585	0.29605	N	0.847369	D;D;D;D	0.89917	1.0;0.996;0.999;0.999	D;D;D;D	0.76071	0.986;0.952;0.987;0.987	T	0.55010	-0.8207	10	0.66056	D	0.02	-4.9597	4.0562	0.09818	0.6328:0.1757:0.1915:0.0	.	75;39;39;39	F5H036;Q6P4D5;Q6P4D5-2;Q6P187	.;F222C_HUMAN;.;.	Y	75;39;39	ENSP00000402477:N75Y;ENSP00000359820:N39Y;ENSP00000359821:N39Y	ENSP00000359820:N39Y	N	+	1	0	FAM122C	133776471	0.994000	0.37717	0.001000	0.08648	0.043000	0.13939	0.822000	0.27352	-0.067000	0.12976	0.466000	0.42574	AAT		0.343	FAM122C-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_138819		13	199	0	0	0	1	0	13	199				
OSBPL3	26031	broad.mit.edu	37	7	24854824	24854824	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:24854824T>A	ENST00000313367.2	-	19	2479		c.e19-2		OSBPL3_ENST00000409069.1_Splice_Site|OSBPL3_ENST00000487020.1_5'Flank|OSBPL3_ENST00000353930.1_Splice_Site|OSBPL3_ENST00000431825.2_Splice_Site|OSBPL3_ENST00000396431.1_Splice_Site|OSBPL3_ENST00000396429.1_Splice_Site|OSBPL3_ENST00000352860.1_Splice_Site	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3						lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TCCCCAAAACTAAAAAGAAGG	0.378																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.e19-2		oxysterol binding protein-like 3							72.0	71.0	71.0					7																	24854824		2203	4300	6503	SO:0001630	splice_region_variant	26031				lipid transport		lipid binding|protein binding	g.chr7:24854824T>A	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.2028-2A>T	7.37:g.24854824T>A			Somatic				OSBPL3_ENST00000352860.1_Splice_Site|OSBPL3_ENST00000431825.2_Splice_Site|OSBPL3_ENST00000353930.1_Splice_Site|OSBPL3_ENST00000396429.1_Splice_Site|OSBPL3_ENST00000409069.1_Splice_Site|OSBPL3_ENST00000396431.1_Splice_Site		NM_015550.2	NP_056365.1	WXS	Illumina GAIIx	Phase_I	Q9H4L5	OSBL3_HUMAN			19	2479	-								A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Splice_Site	SNP	ENST00000313367.2	37		CCDS5390.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.899311	0.91962	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.387	0.66953	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	OSBPL3	24821349	1.000000	0.71417	0.111000	0.21465	0.961000	0.63080	8.037000	0.88933	1.876000	0.54355	0.379000	0.24179	.		0.378	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2		Intron	8	113	0	0	0	1	0	8	113				
SLC44A3	126969	broad.mit.edu	37	1	95330370	95330370	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:95330370C>T	ENST00000271227.6	+	11	1412	c.1310C>T	c.(1309-1311)aCc>aTc	p.T437I	SLC44A3_ENST00000527077.1_Missense_Mutation_p.T369I|SLC44A3_ENST00000532427.1_Missense_Mutation_p.T357I|SLC44A3_ENST00000446120.2_Missense_Mutation_p.T401I|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000467909.1_Missense_Mutation_p.T389I|SLC44A3_ENST00000529450.1_Missense_Mutation_p.T405I	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	437					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	CATCAAGGAACCGTTGTGAAA	0.413																																						ENST00000271227.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(1309-1311)aCc>aTc		solute carrier family 44, member 3	Choline(DB00122)						212.0	200.0	204.0					1																	95330370		2203	4300	6503	SO:0001583	missense	126969					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:95330370C>T	BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"""Solute carriers"""	28689	protein-coding gene	gene with protein product			"""solute carrier family, member 3"""			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.1310C>T	1.37:g.95330370C>T	ENSP00000271227:p.Thr437Ile		Somatic				SLC44A3_ENST00000527077.1_Missense_Mutation_p.T369I|SLC44A3_ENST00000467909.1_Missense_Mutation_p.T389I|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000532427.1_Missense_Mutation_p.T357I|SLC44A3_ENST00000529450.1_Missense_Mutation_p.T405I|SLC44A3_ENST00000446120.2_Missense_Mutation_p.T401I	p.T437I	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	WXS	Illumina GAIIx	Phase_I	Q8N4M1	CTL3_HUMAN		all cancers(265;0.039)|Epithelial(280;0.124)	11	1412	+		all_lung(203;0.000712)|Lung NSC(277;0.00316)	437					B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Missense_Mutation	SNP	ENST00000271227.6	37	c.1310C>T	CCDS44176.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124124	0.77436	.	.	ENSG00000143036	ENST00000446120;ENST00000271227;ENST00000527077;ENST00000529450;ENST00000467909;ENST00000532427	T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000003	T	0.57184	0.2036	M	0.84773	2.715	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.994;0.999;0.999;0.999	T	0.63563	-0.6609	10	0.87932	D	0	-18.0624	19.6846	0.95976	0.0:1.0:0.0:0.0	.	357;401;369;405;437	E9PIC5;Q8N4M1-3;E9PJY8;E9PJH2;Q8N4M1	.;.;.;.;CTL3_HUMAN	I	401;437;369;405;389;357	ENSP00000389143:T401I;ENSP00000271227:T437I;ENSP00000433641:T369I;ENSP00000431836:T405I;ENSP00000432789:T389I;ENSP00000436661:T357I	ENSP00000271227:T437I	T	+	2	0	SLC44A3	95102958	1.000000	0.71417	0.949000	0.38748	0.425000	0.31504	7.011000	0.76359	2.644000	0.89710	0.655000	0.94253	ACC		0.413	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3	NM_152369		6	497	0	0	0	1	0	6	497				
NCOA2	10499	broad.mit.edu	37	8	71129001	71129001	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr8:71129001T>A	ENST00000452400.2	-	3	163		c.e3-2			NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2						cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TATCAGCAACTAAAACAGAAA	0.408			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"""RUNXBP2, HEY1"""		"""AML, Chondrosarcoma"""	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.e3-2		nuclear receptor coactivator 2							98.0	92.0	94.0					8																	71129001		1831	4100	5931	SO:0001630	splice_region_variant	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71129001T>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.19-2A>T	8.37:g.71129001T>A			Somatic						NM_006540.2	NP_006531.1	WXS	Illumina GAIIx	Phase_I	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		3	163	-	Breast(64;0.201)							Q14CD2	Splice_Site	SNP	ENST00000452400.2	37		CCDS47872.1																																																																																				0.408	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1		Intron	6	100	0	0	0	1	0	6	100				
ZNF462	58499	broad.mit.edu	37	9	109688314	109688314	+	Silent	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:109688314T>A	ENST00000277225.5	+	3	2410	c.2121T>A	c.(2119-2121)atT>atA	p.I707I	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Silent_p.I707I			Q96JM2	ZN462_HUMAN	zinc finger protein 462	707					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						AGAGCAAAATTAACCAAACCA	0.458																																						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.(2119-2121)atT>atA		zinc finger protein 462							175.0	160.0	165.0					9																	109688314		2203	4300	6503	SO:0001819	synonymous_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109688314T>A	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.2121T>A	9.37:g.109688314T>A			Somatic				ZNF462_ENST00000457913.1_Silent_p.I707I	p.I707I			WXS	Illumina GAIIx	Phase_I	Q96JM2	ZN462_HUMAN			3	2410	+			707					Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	c.2121T>A	CCDS35096.1																																																																																				0.458	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		5	359	0	0	0	1	0	5	359				
CPSF1	29894	broad.mit.edu	37	8	145623927	145623927	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr8:145623927T>A	ENST00000349769.3	-	18	1834	c.1740A>T	c.(1738-1740)gaA>gaT	p.E580D	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	580					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|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)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)	p.E580D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TGGTGGAGTCTTCCCGGCTCA	0.682																																					NSCLC(133;1088 1848 27708 34777 35269)	ENST00000349769.3																			1	Substitution - Missense(1)	p.E580D(1)	kidney(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1738-1740)gaA>gaT		cleavage and polyadenylation specific factor 1, 160kDa							90.0	94.0	92.0					8																	145623927		2203	4300	6503	SO:0001583	missense	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145623927T>A	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1740A>T	8.37:g.145623927T>A	ENSP00000339353:p.Glu580Asp		Somatic					p.E580D	NM_013291.2	NP_037423.2	WXS	Illumina GAIIx	Phase_I	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		18	1834	-	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)		580					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.1740A>T	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.184937	0.57909	.	.	ENSG00000071894	ENST00000349769	T	0.43294	0.95	5.84	0.0524	0.14302	.	0.000000	0.85682	D	0.000000	T	0.33323	0.0859	L	0.42245	1.32	0.45899	D	0.998747	B	0.28470	0.213	B	0.35278	0.199	T	0.05835	-1.0861	10	0.25751	T	0.34	-13.851	9.3829	0.38325	0.1427:0.6922:0.0:0.1651	.	580	Q10570	CPSF1_HUMAN	D	580	ENSP00000339353:E580D	ENSP00000339353:E580D	E	-	3	2	CPSF1	145594735	0.905000	0.30787	0.993000	0.49108	0.789000	0.44602	-0.064000	0.11636	-0.353000	0.08224	0.533000	0.62120	GAA		0.682	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		4	48	0	0	0	1	0	4	48				
TECTB	6975	broad.mit.edu	37	10	114053792	114053792	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:114053792C>G	ENST00000369422.3	+	6	644	c.644C>G	c.(643-645)cCc>cGc	p.P215R		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	215	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		TTCATGTATCCCTTGCAGTGG	0.478																																						ENST00000369422.3																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(643-645)cCc>cGc		tectorin beta							85.0	85.0	85.0					10																	114053792		2203	4300	6503	SO:0001583	missense	6975					anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr10:114053792C>G	AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913			11721	protein-coding gene	gene with protein product		602653				9079715	Standard	NM_058222		Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.644C>G	10.37:g.114053792C>G	ENSP00000358430:p.Pro215Arg		Somatic					p.P215R	NM_058222.1	NP_478129.1	WXS	Illumina GAIIx	Phase_I	Q96PL2	TECTB_HUMAN		Epithelial(162;0.0143)|all cancers(201;0.0242)	6	644	+		Colorectal(252;0.198)	215			ZP.		Q5VW53	Missense_Mutation	SNP	ENST00000369422.3	37	c.644C>G	CCDS7571.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.946794	0.34377	.	.	ENSG00000119913	ENST00000369422	D	0.81739	-1.53	5.67	5.67	0.87782	Endoglin/CD105 antigen conserved site (1);Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.336194	0.34603	N	0.003838	T	0.73289	0.3568	L	0.37750	1.13	0.41216	D	0.986473	B	0.17667	0.023	B	0.15052	0.012	T	0.68443	-0.5407	10	0.46703	T	0.11	.	14.1909	0.65637	0.1582:0.8418:0.0:0.0	.	215	Q96PL2	TECTB_HUMAN	R	215	ENSP00000358430:P215R	ENSP00000358430:P215R	P	+	2	0	TECTB	114043782	0.923000	0.31300	1.000000	0.80357	0.997000	0.91878	1.616000	0.36933	2.836000	0.97738	0.655000	0.94253	CCC		0.478	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	NM_058222		4	39	0	0	0	1	0	4	39				
EIF4E	1977	broad.mit.edu	37	4	99823113	99823113	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr4:99823113A>T	ENST00000450253.2	-	2	1563	c.39T>A	c.(37-39)aaT>aaA	p.N13K	EIF4E_ENST00000280892.6_Missense_Mutation_p.N33K|EIF4E_ENST00000504432.1_Missense_Mutation_p.N41K|EIF4E_ENST00000505992.1_Missense_Mutation_p.N13K|EIF4E_ENST00000504472.1_5'UTR	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	13					cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of mitotic cell cycle (GO:0045931)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|mRNA cap binding complex (GO:0005845)|RISC complex (GO:0016442)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation initiation factor activity (GO:0003743)	p.N13K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		TAGTCGGGGGATTAGGAGTAG	0.373																																						ENST00000450253.2																			1	Substitution - Missense(1)	p.N13K(1)	kidney(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13						c.(37-39)aaT>aaA		eukaryotic translation initiation factor 4E							123.0	129.0	127.0					4																	99823113		2203	4299	6502	SO:0001583	missense	1977				G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr4:99823113A>T	M15353	CCDS34031.1, CCDS47109.1, CCDS54779.1	4q21-q25	2008-02-05			ENSG00000151247	ENSG00000151247			3287	protein-coding gene	gene with protein product		133440		EIF4EL1, EIF4F		9330633, 1916814	Standard	NM_001968		Approved	EIF4E1	uc011cea.1	P06730	OTTHUMG00000161090	ENST00000450253.2:c.39T>A	4.37:g.99823113A>T	ENSP00000389624:p.Asn13Lys		Somatic				EIF4E_ENST00000280892.6_Missense_Mutation_p.N33K|EIF4E_ENST00000505992.1_Missense_Mutation_p.N13K|EIF4E_ENST00000504472.1_5'UTR|EIF4E_ENST00000504432.1_Missense_Mutation_p.N41K	p.N13K	NM_001968.3	NP_001959.1	WXS	Illumina GAIIx	Phase_I	P06730	IF4E_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)	2	1563	-			13					B7Z6V1|D6RCQ6|Q96E95	Missense_Mutation	SNP	ENST00000450253.2	37	c.39T>A	CCDS34031.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.33|15.33	2.802047|2.802047	0.50315|0.50315	.|.	.|.	ENSG00000151247|ENSG00000151247	ENST00000450253;ENST00000280892;ENST00000504432;ENST00000505992|ENST00000511644	T;T;T;T|.	0.43688|.	0.94;0.94;0.94;0.94|.	5.85|5.85	2.11|2.11	0.27256|0.27256	Translation Initiation factor eIF- 4e-like  domain (2);|.	0.510486|.	0.23281|.	N|.	0.049912|.	T|T	0.32526|0.32526	0.0832|0.0832	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999999|0.999999	P;D;D;P|.	0.67145|.	0.908;0.996;0.967;0.76|.	D;D;D;P|.	0.75484|.	0.947;0.986;0.964;0.82|.	T|T	0.04386|0.04386	-1.0955|-1.0955	10|5	0.18276|.	T|.	0.48|.	-14.8551|-14.8551	10.0348|10.0348	0.42122|0.42122	0.7354:0.0:0.2646:0.0|0.7354:0.0:0.2646:0.0	.|.	13;13;33;13|.	B7Z2T1;P06730-2;B7Z6V1;P06730|.	.;.;.;IF4E_HUMAN|.	K|T	13;33;41;13|10	ENSP00000389624:N13K;ENSP00000280892:N33K;ENSP00000423977:N41K;ENSP00000425561:N13K|.	ENSP00000280892:N33K|.	N|S	-|-	3|1	2|0	EIF4E|EIF4E	100042136|100042136	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	3.081000|3.081000	0.50120|0.50120	0.563000|0.563000	0.29222|0.29222	0.523000|0.523000	0.50628|0.50628	AAT|TCC		0.373	EIF4E-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363739.1	NM_001968		97	139	0	0	0	1	0	97	139				
CEP164	22897	broad.mit.edu	37	11	117280582	117280582	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:117280582C>A	ENST00000278935.3	+	30	4144	c.3997C>A	c.(3997-3999)Caa>Aaa	p.Q1333K	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1333					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.Q1333K(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CACGTCCACCCAATGGGCCTG	0.617																																						ENST00000278935.3																			1	Substitution - Missense(1)	p.Q1333K(1)	kidney(1)	breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(3997-3999)Caa>Aaa		centrosomal protein 164kDa							95.0	95.0	95.0					11																	117280582		2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117280582C>A	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.3997C>A	11.37:g.117280582C>A	ENSP00000278935:p.Gln1333Lys		Somatic				CEP164_ENST00000533706.1_3'UTR	p.Q1333K	NM_014956.4	NP_055771.4	WXS	Illumina GAIIx	Phase_I	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	30	4144	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	1333					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.3997C>A	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	C	5.579	0.291711	0.10567	.	.	ENSG00000110274	ENST00000278935	T	0.24350	1.86	4.61	3.69	0.42338	.	1.025460	0.07784	N	0.953829	T	0.29126	0.0724	M	0.68952	2.095	0.30857	N	0.733919	B;B	0.32829	0.386;0.386	B;B	0.28139	0.086;0.086	T	0.23833	-1.0177	10	0.41790	T	0.15	0.0	10.9183	0.47150	0.0:0.9097:0.0:0.0903	.	1333;1328	Q9UPV0;Q9UPV0-2	CE164_HUMAN;.	K	1333	ENSP00000278935:Q1333K	ENSP00000278935:Q1333K	Q	+	1	0	CEP164	116785792	0.534000	0.26362	0.988000	0.46212	0.173000	0.22820	3.017000	0.49615	0.914000	0.36822	0.561000	0.74099	CAA		0.617	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		92	179	1	0	9.50263e-46	1	1.06771e-45	92	179				
CD209	30835	broad.mit.edu	37	19	7810698	7810698	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:7810698A>G	ENST00000315599.7	-	4	476	c.454T>C	c.(454-456)Tgg>Cgg	p.W152R	CD209_ENST00000601951.1_Missense_Mutation_p.W128R|CD209_ENST00000204801.8_Missense_Mutation_p.W108R|CD209_ENST00000394161.5_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.W152R|CD209_ENST00000354397.6_Missense_Mutation_p.W152R|CD209_ENST00000593821.1_Missense_Mutation_p.W108R|CD209_ENST00000315591.8_Missense_Mutation_p.W128R|CD209_ENST00000301357.8_Intron|CD209_ENST00000601256.1_Missense_Mutation_p.W128R|CD209_ENST00000593660.1_Missense_Mutation_p.W128R|CD209_ENST00000394173.4_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	152	7 X approximate tandem repeats.			W -> Q (in Ref. 4; AAK91848). {ECO:0000305}.	antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.W152R(4)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCAGGTCAGCTCC	0.557																																						ENST00000315599.7																			4	Substitution - Missense(4)	p.W152R(4)	skin(4)	endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(454-456)Tgg>Cgg		CD209 molecule							116.0	114.0	115.0					19																	7810698		2200	4298	6498	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810698A>G	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.454T>C	19.37:g.7810698A>G	ENSP00000315477:p.Trp152Arg		Somatic				CD209_ENST00000602261.1_Missense_Mutation_p.W152R|CD209_ENST00000315591.8_Missense_Mutation_p.W128R|CD209_ENST00000601951.1_Missense_Mutation_p.W128R|CD209_ENST00000601256.1_Missense_Mutation_p.W128R|CD209_ENST00000301357.8_Intron|CD209_ENST00000204801.8_Missense_Mutation_p.W108R|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.W152R|CD209_ENST00000593821.1_Missense_Mutation_p.W108R|CD209_ENST00000593660.1_Missense_Mutation_p.W128R|CD209_ENST00000394173.4_Intron	p.W152R	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	WXS	Illumina GAIIx	Phase_I	Q9NNX6	CD209_HUMAN			4	476	-			152			7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.454T>C	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	N	0	-2.702335	0.00097	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000540789	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	1.11	-1.88	0.07713	.	.	.	.	.	T	0.03434	0.0099	N	0.00128	-2.045	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B	0.06405	0.001;0.001;0.0;0.001;0.001;0.0;0.0;0.0;0.002	T	0.40979	-0.9534	9	0.18276	T	0.48	.	5.8395	0.18625	0.6612:0.0:0.3388:0.0	.	152;128;108;128;152;152;128;128;152	Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;CD209_HUMAN;.;.;.	R	152;152;128;108;152;136	ENSP00000315477:W152R;ENSP00000346373:W152R;ENSP00000315407:W128R;ENSP00000204801:W108R	ENSP00000204801:W108R	W	-	1	0	CD209	7716698	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.109000	0.03309	-1.261000	0.02462	-0.386000	0.06593	TGG		0.557	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		6	669	0	0	0	1	0	6	669				
FLG	2312	broad.mit.edu	37	1	152284047	152284047	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:152284047G>A	ENST00000368799.1	-	3	3350	c.3315C>T	c.(3313-3315)gaC>gaT	p.D1105D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1105	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCTGACCAGTCACGTGCGG	0.577									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(3313-3315)gaC>gaT		filaggrin							293.0	313.0	306.0					1																	152284047		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284047G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3315C>T	1.37:g.152284047G>A			Somatic				FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.D1105D	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3350	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1105			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.3315C>T	CCDS30860.1																																																																																				0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		5	697	0	0	0	1	0	5	697				
BCAR1	9564	broad.mit.edu	37	16	75276901	75276901	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr16:75276901C>A	ENST00000162330.5	-	2	226	c.100G>T	c.(100-102)Gag>Tag	p.E34*	BCAR1_ENST00000542031.2_Nonsense_Mutation_p.E32*|BCAR1_ENST00000546196.1_Nonsense_Mutation_p.E5*|BCAR1_ENST00000418647.3_Nonsense_Mutation_p.E80*|BCAR1_ENST00000420641.3_Nonsense_Mutation_p.E52*|BCAR1_ENST00000538440.2_Nonsense_Mutation_p.E34*|BCAR1_ENST00000535626.2_Nonsense_Mutation_p.E34*|BCAR1_ENST00000393422.2_Nonsense_Mutation_p.E52*|BCAR1_ENST00000393420.6_Nonsense_Mutation_p.E34*	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	34	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.E34*(4)|p.E80*(2)		breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTGTCCTGCTCCAGCACCGTC	0.632																																						ENST00000546196.1																			6	Substitution - Nonsense(6)	p.E34*(4)|p.E80*(2)	kidney(6)	breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35						c.(13-15)Gag>Tag		breast cancer anti-estrogen resistance 1							40.0	40.0	40.0					16																	75276901		2197	4300	6497	SO:0001587	stop_gained	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75276901C>A	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.100G>T	16.37:g.75276901C>A	ENSP00000162330:p.Glu34*		Somatic				BCAR1_ENST00000542031.2_Nonsense_Mutation_p.E32*|BCAR1_ENST00000420641.3_Nonsense_Mutation_p.E52*|BCAR1_ENST00000538440.2_Nonsense_Mutation_p.E34*|BCAR1_ENST00000535626.2_Nonsense_Mutation_p.E34*|BCAR1_ENST00000393422.2_Nonsense_Mutation_p.E52*|BCAR1_ENST00000418647.3_Nonsense_Mutation_p.E80*|BCAR1_ENST00000393420.6_Nonsense_Mutation_p.E34*|BCAR1_ENST00000162330.5_Nonsense_Mutation_p.E34*	p.E5*			WXS	Illumina GAIIx	Phase_I	P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	2	1665	-			34			SH3.		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Nonsense_Mutation	SNP	ENST00000162330.5	37	c.13G>T	CCDS10915.1	.	.	.	.	.	.	.	.	.	.	C	37	6.206768	0.97376	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-44.6177	17.4106	0.87484	0.0:1.0:0.0:0.0	.	.	.	.	X	34;52;52;34;80;34;34;32;5	.	ENSP00000162330:E34X	E	-	1	0	BCAR1	73834402	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.701000	0.68325	2.537000	0.85549	0.561000	0.74099	GAG		0.632	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		15	30	1	0	4.14922e-12	1	4.54294e-12	15	30				
TOPORS	10210	broad.mit.edu	37	9	32541886	32541886	+	Silent	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:32541886A>T	ENST00000360538.2	-	3	2753	c.2637T>A	c.(2635-2637)acT>acA	p.T879T	TOPORS_ENST00000379858.1_Silent_p.T814T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	879	Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		tATGGTGTTTAGTTGTATCAG	0.383																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2635-2637)acT>acA		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							162.0	168.0	166.0					9																	32541886		2203	4300	6503	SO:0001819	synonymous_variant	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32541886A>T	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2637T>A	9.37:g.32541886A>T			Somatic				TOPORS_ENST00000379858.1_Silent_p.T814T	p.T879T	NM_005802.4	NP_005793.2	WXS	Illumina GAIIx	Phase_I	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2753	-			879			Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.		O43273|Q6P987|Q9NS55|Q9UNR9	Silent	SNP	ENST00000360538.2	37	c.2637T>A	CCDS6527.1																																																																																				0.383	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		7	248	0	0	0	1	0	7	248				
NR1H3	10062	broad.mit.edu	37	11	47289515	47289515	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:47289515A>C	ENST00000467728.1	+	7	2278	c.1040A>C	c.(1039-1041)aAt>aCt	p.N347T	MADD_ENST00000395336.3_5'Flank|NR1H3_ENST00000529540.1_3'UTR|MADD_ENST00000395344.3_5'Flank|MADD_ENST00000402799.1_5'Flank|MADD_ENST00000406482.1_5'Flank|MADD_ENST00000342922.4_5'Flank|NR1H3_ENST00000405576.1_Missense_Mutation_p.N242T|RP11-17G12.3_ENST00000545474.1_RNA|MADD_ENST00000402192.2_5'Flank|RP11-17G12.3_ENST00000543925.1_RNA|MADD_ENST00000407859.3_5'Flank|NR1H3_ENST00000441012.2_Missense_Mutation_p.N347T|MADD_ENST00000349238.3_5'Flank|NR1H3_ENST00000395397.3_Missense_Mutation_p.N302T|MADD_ENST00000311027.5_5'Flank|NR1H3_ENST00000527949.1_Missense_Mutation_p.N196T|NR1H3_ENST00000405853.3_Missense_Mutation_p.N287T|NR1H3_ENST00000481889.2_Missense_Mutation_p.N366T|NR1H3_ENST00000407404.1_Missense_Mutation_p.N287T			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	347	Ligand-binding. {ECO:0000255}.				apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.N347T(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						AGGGCCATGAATGAGCTGCAA	0.537																																						ENST00000467728.1																			1	Substitution - Missense(1)	p.N347T(1)	kidney(1)	endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						c.(1039-1041)aAt>aCt		nuclear receptor subfamily 1, group H, member 3							135.0	114.0	121.0					11																	47289515		2201	4298	6499	SO:0001583	missense	10062				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	g.chr11:47289515A>C	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.1040A>C	11.37:g.47289515A>C	ENSP00000420656:p.Asn347Thr		Somatic				NR1H3_ENST00000395397.3_Missense_Mutation_p.N302T|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405853.3_Missense_Mutation_p.N287T|NR1H3_ENST00000405576.1_Missense_Mutation_p.N242T|NR1H3_ENST00000481889.2_Missense_Mutation_p.N366T|NR1H3_ENST00000407404.1_Missense_Mutation_p.N287T|NR1H3_ENST00000441012.2_Missense_Mutation_p.N347T|NR1H3_ENST00000527949.1_Missense_Mutation_p.N196T	p.N347T			WXS	Illumina GAIIx	Phase_I	Q13133	NR1H3_HUMAN			7	2278	+			347			Ligand-binding (Potential).		A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	ENST00000467728.1	37	c.1040A>C	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.173791	0.57692	.	.	ENSG00000025434	ENST00000395397;ENST00000405576;ENST00000481889;ENST00000531660;ENST00000407404;ENST00000441012;ENST00000467728;ENST00000405853;ENST00000527949	D;D;D;D;D;D;D;D;D	0.96651	-4.08;-4.08;-4.08;-4.08;-4.08;-4.08;-4.08;-4.08;-4.08	5.32	5.32	0.75619	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.95749	0.8617	L	0.52126	1.63	0.58432	D	0.999996	B;P;D;P;P	0.55605	0.073;0.757;0.972;0.48;0.762	B;P;P;B;B	0.56563	0.12;0.566;0.801;0.393;0.352	D	0.93685	0.7002	10	0.22706	T	0.39	.	10.009	0.41975	0.9243:0.0:0.0757:0.0	.	353;242;347;366;287	B4DXU5;B5MBY7;Q13133;E9PLL4;Q13133-2	.;.;NR1H3_HUMAN;.;.	T	302;242;366;153;287;347;347;287;196	ENSP00000378793:N302T;ENSP00000385073:N242T;ENSP00000433271:N366T;ENSP00000434650:N153T;ENSP00000385801:N287T;ENSP00000387946:N347T;ENSP00000420656:N347T;ENSP00000384745:N287T;ENSP00000432073:N196T	ENSP00000378793:N302T	N	+	2	0	NR1H3	47246091	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.997000	0.76270	2.139000	0.66308	0.533000	0.62120	AAT		0.537	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			20	78	0	0	0	1	0	20	78				
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	NDUFS1_ENST00000423725.1_5'Flank|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|SNORD51_ENST00000384320.2_RNA|SNORA41_ENST00000384675.1_RNA	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468																																						ENST00000392222.2																			4	Substitution - Missense(4)	p.S43G(4)	endometrium(2)|lung(1)|kidney(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(127-129)Agc>Ggc		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025358		2203	4300	6503	SO:0001583	missense	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025358A>G	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.127A>G	2.37:g.207025358A>G	ENSP00000376056:p.Ser43Gly		Somatic				EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G	p.S43G	NM_001959.3	NP_001950.1	WXS	Illumina GAIIx	Phase_I	P24534	EF1B_HUMAN			2	502	+			43			GST C-terminal.		A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	c.127A>G	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.585588	0.00872	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222;ENST00000445505	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.47	0.911	0.19343	Glutathione S-transferase, C-terminal-like (2);	0.442134	0.26800	N	0.022437	T	0.19846	0.0477	N	0.16098	0.37	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	10	0.17832	T	0.49	-2.1703	6.3337	0.21285	0.2348:0.0:0.6384:0.1268	.	43	P24534	EF1B_HUMAN	G	43	ENSP00000236957:S43G;ENSP00000376055:S43G;ENSP00000376056:S43G;ENSP00000407730:S43G	ENSP00000236957:S43G	S	+	1	0	EEF1B2	206733603	0.049000	0.20398	0.145000	0.22337	0.051000	0.14879	0.879000	0.28146	-0.027000	0.13873	-0.252000	0.11476	AGC		0.468	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		4	51	0	0	0	1	0	4	51				
OIT3	170392	broad.mit.edu	37	10	74684103	74684103	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:74684103C>A	ENST00000334011.5	+	7	1286	c.1068C>A	c.(1066-1068)tgC>tgA	p.C356*		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	356	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.C356*(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					CGGTGACCTGCGAGTTTCCAC	0.552																																					Colon(7;19 345 13446 17537)	ENST00000334011.5																			1	Substitution - Nonsense(1)	p.C356*(1)	kidney(1)	autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35						c.(1066-1068)tgC>tgA		oncoprotein induced transcript 3							74.0	72.0	73.0					10																	74684103		2203	4300	6503	SO:0001587	stop_gained	170392					nuclear envelope	calcium ion binding	g.chr10:74684103C>A		CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.1068C>A	10.37:g.74684103C>A	ENSP00000333900:p.Cys356*		Somatic					p.C356*	NM_152635.1	NP_689848.1	WXS	Illumina GAIIx	Phase_I	Q8WWZ8	OIT3_HUMAN			7	1286	+	Prostate(51;0.0198)		356			ZP.		A0AVP3|Q8N1M8	Nonsense_Mutation	SNP	ENST00000334011.5	37	c.1068C>A	CCDS7318.1	.	.	.	.	.	.	.	.	.	.	C	37	6.220752	0.97390	.	.	ENSG00000138315	ENST00000334011	.	.	.	5.72	1.29	0.21616	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.3497	10.998	0.47589	0.0:0.519:0.0:0.481	.	.	.	.	X	356	.	ENSP00000333900:C356X	C	+	3	2	OIT3	74354109	0.001000	0.12720	1.000000	0.80357	0.994000	0.84299	-1.560000	0.02160	0.221000	0.20879	0.655000	0.94253	TGC		0.552	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635		17	164	1	0	0.00121646	1	0.00125408	17	164				
P2RY13	53829	broad.mit.edu	37	3	151045862	151045862	+	Missense_Mutation	SNP	G	G	T	rs368054575		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:151045862G>T	ENST00000325602.5	-	2	1001	c.982C>A	c.(982-984)Cta>Ata	p.L328I	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	328					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.L307I(1)|p.L328I(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			ATACATGGTAGCTTTTCTGTG	0.363																																						ENST00000325602.5																			2	Substitution - Missense(2)	p.L307I(1)|p.L328I(1)	kidney(2)	biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(982-984)Cta>Ata		purinergic receptor P2Y, G-protein coupled, 13							174.0	161.0	166.0					3																	151045862		2203	4300	6503	SO:0001583	missense	53829					integral to membrane|plasma membrane		g.chr3:151045862G>T	AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	4537	protein-coding gene	gene with protein product		606380	"""G protein-coupled receptor 86"""	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.982C>A	3.37:g.151045862G>T	ENSP00000320376:p.Leu328Ile		Somatic				MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	p.L328I	NM_176894.2	NP_795713.2	WXS	Illumina GAIIx	Phase_I	Q9BPV8	P2Y13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)		2	1001	-			328					B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Missense_Mutation	SNP	ENST00000325602.5	37	c.982C>A	CCDS3158.2	.	.	.	.	.	.	.	.	.	.	G	11.23	1.577121	0.28092	.	.	ENSG00000181631	ENST00000325602	T	0.34275	1.37	5.81	1.96	0.26148	.	0.168906	0.39985	N	0.001210	T	0.17408	0.0418	N	0.08118	0	0.09310	N	1	B	0.31859	0.343	B	0.34138	0.176	T	0.12863	-1.0531	10	0.52906	T	0.07	-1.5033	5.3757	0.16164	0.1286:0.3931:0.3762:0.102	.	328	Q9BPV8	P2Y13_HUMAN	I	328	ENSP00000320376:L328I	ENSP00000320376:L328I	L	-	1	2	P2RY13	152528552	0.295000	0.24389	0.003000	0.11579	0.612000	0.37316	1.028000	0.30128	0.077000	0.16863	0.655000	0.94253	CTA		0.363	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341468.1	NM_023914		78	129	1	0	1.24833e-42	1	1.39219e-42	78	129				
TRAPPC6B	122553	broad.mit.edu	37	14	39621045	39621045	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr14:39621045T>A	ENST00000330149.5	-	5	578		c.e5-2		TRAPPC6B_ENST00000557764.1_Splice_Site|TRAPPC6B_ENST00000347691.5_Splice_Site	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	trafficking protein particle complex 6B						vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)		TGCTAAATACTAAAAGGAAAA	0.299																																						ENST00000330149.5																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.e5-2		trafficking protein particle complex 6B							61.0	63.0	63.0					14																	39621045		2201	4296	6497	SO:0001630	splice_region_variant	122553				vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding	g.chr14:39621045T>A	AK025437	CCDS9670.1, CCDS41947.1	14q13.3	2011-10-10			ENSG00000182400	ENSG00000182400		"""Trafficking protein particle complex"""	23066	protein-coding gene	gene with protein product		610397					Standard	NM_177452		Approved		uc001wut.1	Q86SZ2	OTTHUMG00000140259	ENST00000330149.5:c.352-2A>T	14.37:g.39621045T>A			Somatic				TRAPPC6B_ENST00000557764.1_Splice_Site|TRAPPC6B_ENST00000347691.5_Splice_Site		NM_001079537.1	NP_001073005.1	WXS	Illumina GAIIx	Phase_I	Q86SZ2	TPC6B_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)	5	578	-	Hepatocellular(127;0.213)							B3KPS2|Q5JPD6|Q86U35|Q86X35	Splice_Site	SNP	ENST00000330149.5	37		CCDS41947.1	.	.	.	.	.	.	.	.	.	.	T	19.62	3.860967	0.71949	.	.	ENSG00000182400	ENST00000330149;ENST00000347691;ENST00000554018	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1576	0.59527	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRAPPC6B	38690796	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.484000	0.81180	2.104000	0.64026	0.533000	0.62120	.		0.299	TRAPPC6B-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276775.1	NM_177452	Intron	6	73	0	0	0	1	0	6	73				
RAB3D	9545	broad.mit.edu	37	19	11436252	11436252	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:11436252A>T	ENST00000222120.3	-	5	742	c.482T>A	c.(481-483)tTc>tAc	p.F161Y	CTC-510F12.6_ENST00000586051.1_RNA|TSPAN16_ENST00000316737.1_Intron|CTC-510F12.4_ENST00000586356.1_RNA|RAB3D_ENST00000589655.1_Missense_Mutation_p.F161Y	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	161					exocytosis (GO:0006887)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)|zymogen granule (GO:0042588)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.F161Y(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						GGCTTCAAAGAACTCGAAACC	0.527																																						ENST00000222120.3																			1	Substitution - Missense(1)	p.F161Y(1)	kidney(1)	cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						c.(481-483)tTc>tAc		RAB3D, member RAS oncogene family							135.0	125.0	128.0					19																	11436252		2203	4300	6503	SO:0001583	missense	9545				exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr19:11436252A>T	AF081353	CCDS12257.1	19p13.2	2012-10-02			ENSG00000105514	ENSG00000105514		"""RAB, member RAS oncogene"""	9779	protein-coding gene	gene with protein product	"""Rab3D upregulated with myeloid differentiation"", ""glioblastoma overexpressed"""	604350		GOV		10023084, 10072586	Standard	NM_004283		Approved	RAB16, D2-2, RAD3D	uc002mqx.3	O95716	OTTHUMG00000180835	ENST00000222120.3:c.482T>A	19.37:g.11436252A>T	ENSP00000222120:p.Phe161Tyr		Somatic				RAB3D_ENST00000589655.1_Missense_Mutation_p.F161Y|TSPAN16_ENST00000316737.1_Intron	p.F161Y	NM_004283.3	NP_004274.1	WXS	Illumina GAIIx	Phase_I	O95716	RAB3D_HUMAN			5	742	-			161						Missense_Mutation	SNP	ENST00000222120.3	37	c.482T>A	CCDS12257.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.959934	0.53400	.	.	ENSG00000105514	ENST00000222120	T	0.77620	-1.11	4.76	4.76	0.60689	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.68256	0.2981	L	0.31120	0.905	0.80722	D	1	B	0.16166	0.016	B	0.20577	0.03	T	0.66952	-0.5793	10	0.59425	D	0.04	.	13.3691	0.60703	1.0:0.0:0.0:0.0	.	161	O95716	RAB3D_HUMAN	Y	161	ENSP00000222120:F161Y	ENSP00000222120:F161Y	F	-	2	0	RAB3D	11297252	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	4.870000	0.63035	2.004000	0.58718	0.454000	0.30748	TTC		0.527	RAB3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453211.1	NM_004283		97	151	0	0	0	1	0	97	151				
PSTPIP2	9050	broad.mit.edu	37	18	43591160	43591160	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr18:43591160A>T	ENST00000409746.5	-	5	412	c.341T>A	c.(340-342)cTa>cAa	p.L114Q	PSTPIP2_ENST00000589328.1_Missense_Mutation_p.L114Q|PSTPIP2_ENST00000588801.1_5'UTR	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	114						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						TTTTCGTTGTAGTTTTTGCTT	0.413																																						ENST00000409746.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						c.(340-342)cTa>cAa		proline-serine-threonine phosphatase interacting protein 2							300.0	252.0	268.0					18																	43591160		2203	4300	6503	SO:0001583	missense	9050					membrane		g.chr18:43591160A>T		CCDS32820.2	18q12	2008-07-28			ENSG00000152229	ENSG00000152229			9581	protein-coding gene	gene with protein product						9804817	Standard	NM_024430		Approved		uc002lbp.4	Q9H939	OTTHUMG00000152674	ENST00000409746.5:c.341T>A	18.37:g.43591160A>T	ENSP00000387261:p.Leu114Gln		Somatic				PSTPIP2_ENST00000588801.1_5'UTR|PSTPIP2_ENST00000589328.1_Missense_Mutation_p.L114Q	p.L114Q	NM_024430.3	NP_077748.3	WXS	Illumina GAIIx	Phase_I	Q9H939	PPIP2_HUMAN			5	412	-			114						Missense_Mutation	SNP	ENST00000409746.5	37	c.341T>A	CCDS32820.2	.	.	.	.	.	.	.	.	.	.	A	10.08	1.253177	0.22965	.	.	ENSG00000152229	ENST00000409746;ENST00000360076	T	0.38401	1.14	5.13	1.36	0.22044	.	0.452533	0.23409	N	0.048482	T	0.17408	0.0418	L	0.31804	0.96	0.25875	N	0.983663	B;B	0.34290	0.447;0.033	B;B	0.26202	0.067;0.008	T	0.14476	-1.0471	10	0.19590	T	0.45	-12.8578	4.0432	0.09761	0.6064:0.0:0.124:0.2696	.	114;114	Q9H939-2;Q9H939	.;PPIP2_HUMAN	Q	114	ENSP00000387261:L114Q	ENSP00000353189:L114Q	L	-	2	0	PSTPIP2	41845158	0.958000	0.32768	0.988000	0.46212	0.963000	0.63663	0.900000	0.28431	-0.002000	0.14469	0.379000	0.24179	CTA		0.413	PSTPIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327522.1			6	232	0	0	0	1	0	6	232				
MAP3K19	80122	broad.mit.edu	37	2	135744273	135744273	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:135744273C>T	ENST00000375845.3	-	7	2199	c.2169G>A	c.(2167-2169)atG>atA	p.M723I	MAP3K19_ENST00000358371.4_Missense_Mutation_p.M610I|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.M740I	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	723							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TTGGGCATTTCATATGTGTTT	0.388																																						ENST00000375845.3																			0											c.(2167-2169)atG>atA		mitogen-activated protein kinase kinase kinase 19							100.0	100.0	100.0					2																	135744273		2203	4300	6503	SO:0001583	missense	80122							g.chr2:135744273C>T	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2169G>A	2.37:g.135744273C>T	ENSP00000365005:p.Met723Ile		Somatic				MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.M740I|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.M610I	p.M723I	NM_025052.3	NP_079328.3	WXS	Illumina GAIIx	Phase_I					7	2199	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.2169G>A	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	C	0	-2.848399	0.00067	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.69806	-0.26;-0.27;2.11;-0.43	5.67	-6.52	0.01872	.	2.103750	0.01845	N	0.035563	T	0.30135	0.0755	N	0.01576	-0.805	0.28023	N	0.934449	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.28618	-1.0038	10	0.11485	T	0.65	.	3.4374	0.07450	0.3298:0.3218:0.264:0.0844	.	610;740;723	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	I	723;610;740;113	ENSP00000365005:M723I;ENSP00000351140:M610I;ENSP00000376647:M740I;ENSP00000392827:M113I	ENSP00000351140:M610I	M	-	3	0	YSK4	135460743	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.430000	0.06973	-0.740000	0.04803	-1.083000	0.02208	ATG		0.388	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		8	143	0	0	0	1	0	8	143				
JPH2	57158	broad.mit.edu	37	20	42815128	42815128	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr20:42815128C>T	ENST00000372980.3	-	1	1090	c.218G>A	c.(217-219)gGc>gAc	p.G73D	JPH2_ENST00000342272.3_Missense_Mutation_p.G73D	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	73	Gly-rich.				calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGTCTCTATGCCCAGCCCATG	0.597																																						ENST00000372980.3																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(217-219)gGc>gAc		junctophilin 2							123.0	94.0	104.0					20																	42815128		2203	4300	6503	SO:0001583	missense	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42815128C>T	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.218G>A	20.37:g.42815128C>T	ENSP00000362071:p.Gly73Asp		Somatic				JPH2_ENST00000342272.3_Missense_Mutation_p.G73D	p.G73D	NM_020433.4	NP_065166.2	WXS	Illumina GAIIx	Phase_I	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		1	1090	-		Myeloproliferative disorder(115;0.0122)	73			Gly-rich.		E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	c.218G>A	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	c	26.9	4.785784	0.90282	.	.	ENSG00000149596	ENST00000372980;ENST00000342272	D;D	0.95885	-3.84;-3.84	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	D	0.98845	0.9610	H	0.99225	4.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99593	1.0976	10	0.87932	D	0	.	17.4072	0.87477	0.0:1.0:0.0:0.0	.	73;73	Q9BR39-2;Q9BR39	.;JPH2_HUMAN	D	73	ENSP00000362071:G73D;ENSP00000344590:G73D	ENSP00000344590:G73D	G	-	2	0	JPH2	42248542	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.452000	0.80683	2.096000	0.63516	0.550000	0.68814	GGC		0.597	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			4	164	0	0	0	1	0	4	164				
DCAF11	80344	broad.mit.edu	37	14	24587957	24587957	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr14:24587957A>T	ENST00000446197.3	+	8	1451		c.e8-1		DCAF11_ENST00000559115.1_Splice_Site|RP11-468E2.6_ENST00000558325.1_5'Flank|DCAF11_ENST00000396936.1_Splice_Site|DCAF11_ENST00000396941.4_Splice_Site	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11						protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											TGCTTCTCTTAGTTCATATCT	0.463																																						ENST00000446197.3																			0											c.e8-1		DDB1 and CUL4 associated factor 11							173.0	146.0	155.0					14																	24587957		2203	4300	6503	SO:0001630	splice_region_variant	80344					CUL4 RING ubiquitin ligase complex	protein binding	g.chr14:24587957A>T	AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	protein-coding gene	gene with protein product		613317	"""WD repeat domain 23"""	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.725-1A>T	14.37:g.24587957A>T			Somatic				DCAF11_ENST00000396936.1_Splice_Site|DCAF11_ENST00000559115.1_Splice_Site|DCAF11_ENST00000396941.4_Splice_Site		NM_025230.4	NP_079506.3	WXS	Illumina GAIIx	Phase_I	Q8TEB1	DCA11_HUMAN			8	1451	+								B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Splice_Site	SNP	ENST00000446197.3	37		CCDS9610.1	.	.	.	.	.	.	.	.	.	.	a	16.59	3.165130	0.57476	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7873	0.57514	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCAF11	23657797	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.189000	0.77747	2.125000	0.65367	0.533000	0.62120	.		0.463	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4		Intron	6	280	0	0	0	1	0	6	280				
CSMD1	64478	broad.mit.edu	37	8	3351201	3351201	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr8:3351201G>A	ENST00000520002.1	-	12	1950	c.1395C>T	c.(1393-1395)gaC>gaT	p.D465D	CSMD1_ENST00000537824.1_Silent_p.D464D|CSMD1_ENST00000542608.1_Silent_p.D464D|CSMD1_ENST00000539096.1_Silent_p.D464D|CSMD1_ENST00000602723.1_Silent_p.D465D|CSMD1_ENST00000602557.1_Silent_p.D465D|CSMD1_ENST00000400186.3_Silent_p.D465D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	465	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCGTCAGGGTGTCATAGCCTC	0.483																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(1393-1395)gaC>gaT		CUB and Sushi multiple domains 1							85.0	90.0	88.0					8																	3351201		2183	4299	6482	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3351201G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.1395C>T	8.37:g.3351201G>A			Somatic				CSMD1_ENST00000400186.3_Silent_p.D465D|CSMD1_ENST00000602723.1_Silent_p.D465D|CSMD1_ENST00000537824.1_Silent_p.D464D|CSMD1_ENST00000539096.1_Silent_p.D464D|CSMD1_ENST00000520002.1_Silent_p.D465D|CSMD1_ENST00000542608.1_Silent_p.D464D	p.D465D			WXS	Illumina GAIIx	Phase_I	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	12	1950	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	465			CUB 3.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.1395C>T																																																																																					0.483	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		7	103	0	0	0	1	0	7	103				
FMN1	342184	broad.mit.edu	37	15	33358779	33358779	+	Intron	SNP	T	T	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr15:33358779T>G	ENST00000559047.1	-	3	2043				FMN1_ENST00000334528.9_Missense_Mutation_p.E436A|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000558197.1_Missense_Mutation_p.E436A			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E436A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCTTAGCGACTCCTTCTCATG	0.488																																						ENST00000334528.9																			1	Substitution - Missense(1)	p.E436A(1)	kidney(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(1306-1308)gAg>gCg		formin 1							54.0	54.0	54.0					15																	33358779		1967	4163	6130	SO:0001627	intron_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33358779T>G	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-1504A>C	15.37:g.33358779T>G			Somatic				FMN1_ENST00000559150.1_Intron|FMN1_ENST00000558197.1_Missense_Mutation_p.E436A|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559047.1_Intron	p.E436A	NM_001103184.2	NP_001096654.1	WXS	Illumina GAIIx	Phase_I	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	1	1306	-		all_lung(180;1.14e-07)	186			Microtubule-binding (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.1307A>C		.	.	.	.	.	.	.	.	.	.	T	18.18	3.566143	0.65651	.	.	ENSG00000248905	ENST00000334528	T	0.60299	0.2	5.96	5.96	0.96718	.	0.269242	0.41823	D	0.000805	T	0.74351	0.3705	.	.	.	.	.	.	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.984	T	0.71909	-0.4450	8	0.29301	T	0.29	.	16.4484	0.83959	0.0:0.0:0.0:1.0	.	436;436	Q68DA7-3;Q68DA7-5	.;.	A	436	ENSP00000333950:E436A	ENSP00000333950:E436A	E	-	2	0	FMN1	31146071	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.996000	0.76263	2.285000	0.76669	0.533000	0.62120	GAG		0.488	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		10	34	0	0	0	1	0	10	34				
DNAH17	8632	broad.mit.edu	37	17	76482488	76482488	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:76482488G>T	ENST00000585328.1	-	45	7028	c.6904C>A	c.(6904-6906)Cgc>Agc	p.R2302S	RP11-559N14.5_ENST00000585969.1_RNA|RP11-559N14.5_ENST00000588565.1_RNA|DNAH17_ENST00000389840.5_Missense_Mutation_p.R2293S|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2293					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R2302S(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AACCCAAAGCGCAACTTGTCC	0.582																																						ENST00000389840.5																			1	Substitution - Missense(1)	p.R2302S(1)	kidney(1)	NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(6877-6879)Cgc>Agc		dynein, axonemal, heavy chain 17							74.0	80.0	78.0					17																	76482488		2184	4266	6450	SO:0001583	missense	8632							g.chr17:76482488G>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.6904C>A	17.37:g.76482488G>T	ENSP00000465516:p.Arg2302Ser		Somatic				DNAH17_ENST00000585328.1_Missense_Mutation_p.R2302S|DNAH17_ENST00000586052.1_5'UTR|RP11-559N14.5_ENST00000585969.1_RNA	p.R2293S			WXS	Illumina GAIIx	Phase_I			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		45	7001	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.6877C>A		.	.	.	.	.	.	.	.	.	.	G	17.21	3.331226	0.60853	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.26957	1.7	5.01	3.92	0.45320	.	.	.	.	.	T	0.53029	0.1771	M	0.92412	3.305	0.30878	N	0.731709	.	.	.	.	.	.	T	0.62025	-0.6941	7	0.87932	D	0	.	10.6149	0.45445	0.0:0.0:0.5769:0.4231	.	.	.	.	S	2302;2293	ENSP00000374490:R2293S	ENSP00000300671:R2302S	R	-	1	0	DNAH17	73994083	0.962000	0.33011	0.992000	0.48379	0.972000	0.66771	2.248000	0.43160	2.505000	0.84491	0.561000	0.74099	CGC		0.582	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		69	129	1	0	5.40308e-56	1	6.13986e-56	69	129				
RD3	343035	broad.mit.edu	37	1	211654589	211654589	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:211654589C>T	ENST00000367002.4	-	2	1332	c.169G>A	c.(169-171)Ggt>Agt	p.G57S	RD3_ENST00000484910.1_Intron	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	57			G -> V (in an individual with cone-rod degeneration). {ECO:0000269|PubMed:17186464}.		response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		TAGTCCACACCGGTGCAGACC	0.612																																						ENST00000367002.4																			0				central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10						c.(169-171)Ggt>Agt		retinal degeneration 3							96.0	91.0	93.0					1																	211654589		2203	4300	6503	SO:0001583	missense	343035				response to stimulus|visual perception			g.chr1:211654589C>T	AY191519	CCDS1498.1	1q32.3	2008-02-05	2006-11-13	2006-11-13	ENSG00000198570	ENSG00000198570			19689	protein-coding gene	gene with protein product		180040	"""chromosome 1 open reading frame 36"""	C1orf36		12914764	Standard	NM_183059		Approved	LCA12	uc001hin.2	Q7Z3Z2	OTTHUMG00000037002	ENST00000367002.4:c.169G>A	1.37:g.211654589C>T	ENSP00000355969:p.Gly57Ser		Somatic				RD3_ENST00000484910.1_Intron	p.G57S	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	WXS	Illumina GAIIx	Phase_I	Q7Z3Z2	RD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)	2	1332	-			57		G -> V (in an individual with cone-rod degeneration).			A8K595	Missense_Mutation	SNP	ENST00000367002.4	37	c.169G>A	CCDS1498.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097578	0.56075	.	.	ENSG00000198570	ENST00000367002	T	0.13538	2.58	4.85	3.93	0.45458	.	0.048110	0.85682	D	0.000000	T	0.28067	0.0692	L	0.56396	1.775	0.53005	D	0.999963	D	0.76494	0.999	P	0.60886	0.88	T	0.03008	-1.1083	10	0.21014	T	0.42	-36.0629	15.3883	0.74723	0.0:0.8598:0.1401:0.0	.	57	Q7Z3Z2	RD3_HUMAN	S	57	ENSP00000355969:G57S	ENSP00000355969:G57S	G	-	1	0	RD3	209721212	1.000000	0.71417	0.067000	0.19924	0.142000	0.21351	5.370000	0.66144	1.146000	0.42352	0.561000	0.74099	GGT		0.612	RD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089837.1	NM_183059		5	162	0	0	0	1	0	5	162				
SLC9A4	389015	broad.mit.edu	37	2	103095413	103095413	+	Silent	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:103095413C>A	ENST00000295269.4	+	2	829	c.372C>A	c.(370-372)gtC>gtA	p.V124V		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	124					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.V124V(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CGCCTCCGGTCATGGACTCCA	0.612																																						ENST00000295269.4																			1	Substitution - coding silent(1)	p.V124V(1)	kidney(1)	NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(370-372)gtC>gtA		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4							71.0	66.0	68.0					2																	103095413		2203	4300	6503	SO:0001819	synonymous_variant	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103095413C>A		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.372C>A	2.37:g.103095413C>A			Somatic					p.V124V	NM_001011552.3	NP_001011552.2	WXS	Illumina GAIIx	Phase_I	Q6AI14	SL9A4_HUMAN			2	829	+			124					Q69YK0	Silent	SNP	ENST00000295269.4	37	c.372C>A	CCDS33264.1																																																																																				0.612	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		119	195	1	0	7.93641e-56	1	8.98462e-56	119	195				
RTF1	23168	broad.mit.edu	37	15	41763442	41763442	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr15:41763442G>A	ENST00000389629.4	+	8	1110	c.1098G>A	c.(1096-1098)cgG>cgA	p.R366R		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	366	Plus3. {ECO:0000255|PROSITE- ProRule:PRU00693}.				DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)	p.R241R(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GATTATCACGGCATAAGCTAG	0.458																																						ENST00000389629.4																			1	Substitution - coding silent(1)	p.R241R(1)	kidney(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18						c.(1096-1098)cgG>cgA		Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)							164.0	155.0	158.0					15																	41763442		2203	4300	6503	SO:0001819	synonymous_variant	23168				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	g.chr15:41763442G>A	D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.1098G>A	15.37:g.41763442G>A			Somatic					p.R366R	NM_015138.4	NP_055953.3	WXS	Illumina GAIIx	Phase_I	Q92541	RTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)	8	1110	+		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	366			Plus3.		Q96BX6	Silent	SNP	ENST00000389629.4	37	c.1098G>A	CCDS32200.2																																																																																				0.458	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		5	367	0	0	0	1	0	5	367				
KIAA2018	205717	broad.mit.edu	37	3	113374871	113374871	+	Silent	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:113374871A>T	ENST00000478658.1	-	5	5675	c.5658T>A	c.(5656-5658)atT>atA	p.I1886I	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Silent_p.I1886I			Q68DE3	K2018_HUMAN	KIAA2018	1886						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TCCTGGTGTTAATTGCACCTA	0.393																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(5656-5658)atT>atA		KIAA2018							112.0	106.0	108.0					3																	113374871		1915	4134	6049	SO:0001819	synonymous_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113374871A>T	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.5658T>A	3.37:g.113374871A>T			Somatic				KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Silent_p.I1886I	p.I1886I	NM_001009899.2	NP_001009899.2	WXS	Illumina GAIIx	Phase_I	Q68DE3	K2018_HUMAN			7	6068	-			1886					Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	37	c.5658T>A	CCDS43133.1																																																																																				0.393	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		5	210	0	0	0	1	0	5	210				
MYO18B	84700	broad.mit.edu	37	22	26222442	26222442	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:26222442C>T	ENST00000407587.2	+	14	2931	c.2762C>T	c.(2761-2763)gCg>gTg	p.A921V	MYO18B_ENST00000335473.7_Missense_Mutation_p.A921V|MYO18B_ENST00000536101.1_Missense_Mutation_p.A921V			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	921	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAACTCTTTGCGGCTGTGGTC	0.537																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(2761-2763)gCg>gTg		myosin XVIIIB							169.0	162.0	164.0					22																	26222442		1954	4145	6099	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26222442C>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2762C>T	22.37:g.26222442C>T	ENSP00000386096:p.Ala921Val		Somatic				MYO18B_ENST00000407587.2_Missense_Mutation_p.A921V|MYO18B_ENST00000536101.1_Missense_Mutation_p.A921V	p.A921V	NM_032608.5	NP_115997.5	WXS	Illumina GAIIx	Phase_I	Q8IUG5	MY18B_HUMAN			14	3012	+			921			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.2762C>T		.	.	.	.	.	.	.	.	.	.	C	7.972	0.749351	0.15710	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87887	-2.31;-2.31;-2.31	4.26	-1.02	0.10135	Myosin head, motor domain (2);	0.427948	0.24717	N	0.036161	T	0.72669	0.3489	L	0.31526	0.94	0.21416	N	0.999698	B;B;B;B	0.14012	0.009;0.003;0.002;0.002	B;B;B;B	0.09377	0.004;0.004;0.002;0.002	T	0.54397	-0.8300	10	0.13470	T	0.59	.	6.1406	0.20257	0.0:0.5622:0.2525:0.1853	.	434;921;921;921	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	V	921	ENSP00000441229:A921V;ENSP00000334563:A921V;ENSP00000386096:A921V	ENSP00000334563:A921V	A	+	2	0	MYO18B	24552442	0.190000	0.23276	0.387000	0.26183	0.843000	0.47879	0.773000	0.26661	0.255000	0.21593	-0.448000	0.05591	GCG		0.537	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		5	569	0	0	0	1	0	5	569				
CTXN3	613212	broad.mit.edu	37	5	126993328	126993328	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:126993328A>T	ENST00000379445.3	+	3	666	c.115A>T	c.(115-117)Att>Ttt	p.I39F	CTXN3_ENST00000395322.3_Missense_Mutation_p.I39F|CTC-548H10.2_ENST00000512352.1_RNA	NM_001048252.2	NP_001041717.1	Q4LDR2	CTXN3_HUMAN	cortexin 3	39						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(1)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038)		TCTGTTGTTTATTTTCTTGGG	0.483																																						ENST00000379445.3																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(115-117)Att>Ttt		cortexin 3							158.0	140.0	146.0					5																	126993328		2203	4300	6503	SO:0001583	missense	613212					integral to membrane		g.chr5:126993328A>T	AB219764	CCDS34221.1	5q23.2	2006-09-21				ENSG00000205279			31110	protein-coding gene	gene with protein product							Standard	NM_001048252		Approved		uc003kum.4	Q4LDR2		ENST00000379445.3:c.115A>T	5.37:g.126993328A>T	ENSP00000368758:p.Ile39Phe		Somatic				CTXN3_ENST00000395322.3_Missense_Mutation_p.I39F|CTC-548H10.2_ENST00000512352.1_RNA	p.I39F	NM_001048252.2	NP_001041717.1	WXS	Illumina GAIIx	Phase_I	Q4LDR2	CTXN3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038)	3	666	+		Prostate(80;0.165)	39					B2RV32|D3DQ82	Missense_Mutation	SNP	ENST00000379445.3	37	c.115A>T	CCDS34221.1	.	.	.	.	.	.	.	.	.	.	A	19.69	3.874223	0.72180	.	.	ENSG00000205279	ENST00000379445;ENST00000395322	T;T	0.36157	1.27;1.27	4.52	4.52	0.55395	.	0.112509	0.64402	D	0.000008	T	0.54759	0.1878	.	.	.	0.54753	D	0.999989	D	0.56521	0.976	P	0.59357	0.856	T	0.60419	-0.7267	9	0.72032	D	0.01	-5.1792	14.5686	0.68197	1.0:0.0:0.0:0.0	.	39	Q4LDR2	CTXN3_HUMAN	F	39	ENSP00000368758:I39F;ENSP00000378732:I39F	ENSP00000368758:I39F	I	+	1	0	CTXN3	127021227	0.997000	0.39634	1.000000	0.80357	0.979000	0.70002	2.608000	0.46308	2.254000	0.74563	0.533000	0.62120	ATT		0.483	CTXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372467.1	XM_932841		6	305	0	0	0	1	0	6	305				
XPO5	57510	broad.mit.edu	37	6	43515440	43515440	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:43515440G>A	ENST00000265351.7	-	19	2275	c.2065C>T	c.(2065-2067)Ctg>Ttg	p.L689L		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	689					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)	p.L689L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			ACATCTGACAGCACTCTGAAG	0.463																																						ENST00000265351.7																			1	Substitution - coding silent(1)	p.L689L(1)	kidney(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(2065-2067)Ctg>Ttg		exportin 5							90.0	85.0	87.0					6																	43515440		1956	4154	6110	SO:0001819	synonymous_variant	57510				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	g.chr6:43515440G>A	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.2065C>T	6.37:g.43515440G>A			Somatic					p.L689L	NM_020750.2	NP_065801.1	WXS	Illumina GAIIx	Phase_I	Q9HAV4	XPO5_HUMAN	all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)		19	2275	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		689					Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Silent	SNP	ENST00000265351.7	37	c.2065C>T	CCDS47430.1																																																																																				0.463	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		33	103	0	0	0	1	0	33	103				
OPN1SW	611	broad.mit.edu	37	7	128413819	128413819	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:128413819A>G	ENST00000249389.2	-	4	810	c.811T>C	c.(811-813)Tac>Cac	p.Y271H		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	271					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						TTGACCATGTACATGGCGAAG	0.532																																						ENST00000249389.2																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						c.(811-813)Tac>Cac		opsin 1 (cone pigments), short-wave-sensitive							172.0	115.0	134.0					7																	128413819		2203	4300	6503	SO:0001583	missense	611				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr7:128413819A>G	U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"""GPCR / Class A : Opsin receptors"""	1012	protein-coding gene	gene with protein product	"""color blindness, tritan"", ""blue-sensitive opsin"""	613522	"""blue cone photoreceptor pigment"""	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.811T>C	7.37:g.128413819A>G	ENSP00000249389:p.Tyr271His		Somatic					p.Y271H	NM_001708.2	NP_001699.1	WXS	Illumina GAIIx	Phase_I	P03999	OPSB_HUMAN			4	810	-			271					Q13877	Missense_Mutation	SNP	ENST00000249389.2	37	c.811T>C	CCDS5806.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.032695	0.75504	.	.	ENSG00000128617	ENST00000249389	T	0.38560	1.13	5.03	5.03	0.67393	GPCR, rhodopsin-like superfamily (1);	0.211078	0.42682	D	0.000668	T	0.70307	0.3209	M	0.92459	3.31	0.51482	D	0.999926	D	0.69078	0.997	D	0.71656	0.974	T	0.78214	-0.2291	10	0.87932	D	0	.	12.7568	0.57339	1.0:0.0:0.0:0.0	.	271	P03999	OPSB_HUMAN	H	271	ENSP00000249389:Y271H	ENSP00000249389:Y271H	Y	-	1	0	OPN1SW	128201055	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.879000	0.75572	2.119000	0.64992	0.533000	0.62120	TAC		0.532	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350655.1	NM_001708		4	196	0	0	0	1	0	4	196				
C1S	716	broad.mit.edu	37	12	7172402	7172402	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:7172402A>T	ENST00000406697.1	+	9	1145		c.e9-1		C1S_ENST00000360817.5_Splice_Site|C1S_ENST00000402681.3_Splice_Site|C1S_ENST00000328916.3_Splice_Site			P09871	C1S_HUMAN	complement component 1, s subcomponent						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTTCTCTGTTAGTTAATTGCA	0.418																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.e9-1		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						66.0	65.0	65.0					12																	7172402		2203	4300	6503	SO:0001630	splice_region_variant	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7172402A>T		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.518-1A>T	12.37:g.7172402A>T			Somatic				C1S_ENST00000402681.3_Splice_Site|C1S_ENST00000360817.5_Splice_Site|C1S_ENST00000328916.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	P09871	C1S_HUMAN			9	1145	+								D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Splice_Site	SNP	ENST00000406697.1	37		CCDS31735.1	.	.	.	.	.	.	.	.	.	.	A	11.79	1.745149	0.30955	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681;ENST00000542978	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0034	0.80327	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C1S	7042663	1.000000	0.71417	0.987000	0.45799	0.181000	0.23173	7.053000	0.76641	2.371000	0.80710	0.533000	0.62120	.		0.418	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734	Intron	11	162	0	0	0	1	0	11	162				
MCM6	4175	broad.mit.edu	37	2	136602160	136602160	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:136602160A>T	ENST00000264156.2	-	16	2364	c.2304T>A	c.(2302-2304)aaT>aaA	p.N768K	MCM6_ENST00000492091.1_5'Flank	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	768					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		TTCTTTTTTTATTTATAAGTT	0.428																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(2302-2304)aaT>aaA		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						109.0	109.0	109.0					2																	136602160		2203	4300	6503	SO:0001583	missense	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136602160A>T		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.2304T>A	2.37:g.136602160A>T	ENSP00000264156:p.Asn768Lys		Somatic					p.N768K	NM_005915.5	NP_005906.2	WXS	Illumina GAIIx	Phase_I	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	16	2364	-			768					B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.2304T>A	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	A	10.97	1.500499	0.26861	.	.	ENSG00000076003	ENST00000264156	T	0.02837	4.14	5.86	-2.97	0.05530	.	0.269699	0.47455	D	0.000226	T	0.01592	0.0051	L	0.34521	1.04	0.58432	D	0.999996	B	0.02656	0.0	B	0.06405	0.002	T	0.50849	-0.8779	10	0.11182	T	0.66	-8.9492	1.9486	0.03361	0.4274:0.0957:0.2905:0.1864	.	768	Q14566	MCM6_HUMAN	K	768	ENSP00000264156:N768K	ENSP00000264156:N768K	N	-	3	2	MCM6	136318630	0.995000	0.38212	0.997000	0.53966	0.975000	0.68041	0.629000	0.24538	-0.105000	0.12132	0.528000	0.53228	AAT		0.428	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		5	107	0	0	0	1	0	5	107				
LRR1	122769	broad.mit.edu	37	14	50080990	50080990	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr14:50080990C>T	ENST00000298288.6	+	4	1345	c.1021C>T	c.(1021-1023)Cat>Tat	p.H341Y	LRR1_ENST00000318317.4_Missense_Mutation_p.S100L	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN	leucine rich repeat protein 1	341					protein ubiquitination (GO:0016567)					kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ATATGGCTCTCATATCATTCC	0.328																																						ENST00000298288.6																			0				kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(1021-1023)Cat>Tat		leucine rich repeat protein 1							75.0	73.0	74.0					14																	50080990		2203	4300	6503	SO:0001583	missense	122769							g.chr14:50080990C>T	BC030142	CCDS9686.1, CCDS9687.1	14q21.3	2011-02-02	2011-02-02	2011-02-02	ENSG00000165501	ENSG00000165501			19742	protein-coding gene	gene with protein product	"""LRR-repeat protein 1"""	609193	"""peptidylprolyl isomerase (cyclophilin)-like 5"""	PPIL5		11804328, 21074724	Standard	NR_037792		Approved	MGC20689, LRR-1	uc001wwn.3	Q96L50	OTTHUMG00000140273	ENST00000298288.6:c.1021C>T	14.37:g.50080990C>T	ENSP00000298288:p.His341Tyr		Somatic				LRR1_ENST00000318317.4_Missense_Mutation_p.S100L	p.H341Y	NM_152329.3	NP_689542.2	WXS	Illumina GAIIx	Phase_I	Q96L50	LLR1_HUMAN			4	1345	+			341					A5D6X3|B4DDE0|Q52M24|Q86SZ1|Q8N6H9	Missense_Mutation	SNP	ENST00000298288.6	37	c.1021C>T	CCDS9686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.044|6.044	0.376438|0.376438	0.11466|0.11466	.|.	.|.	ENSG00000165501|ENSG00000165501	ENST00000298288|ENST00000318317	T|.	0.40225|.	1.04|.	5.55|5.55	1.49|1.49	0.22878|0.22878	.|.	0.378422|.	0.32002|.	N|.	0.006725|.	T|T	0.44644|0.44644	0.1303|0.1303	L|L	0.39020|0.39020	1.185|1.185	0.21627|0.21627	N|N	0.999617|0.999617	B|P	0.33448|0.45827	0.412|0.867	B|P	0.28011|0.48030	0.085|0.564	T|T	0.48958|0.48958	-0.8988|-0.8988	10|8	0.09843|0.66056	T|D	0.71|0.02	0.4502|0.4502	18.1915|18.1915	0.89808|0.89808	0.0:0.5294:0.4706:0.0|0.0:0.5294:0.4706:0.0	.|.	341|100	Q96L50|Q96L50-2	LLR1_HUMAN|.	Y|L	341|100	ENSP00000298288:H341Y|.	ENSP00000298288:H341Y|ENSP00000315628:S100L	H|S	+|+	1|2	0|0	LRR1|LRR1	49150740|49150740	1.000000|1.000000	0.71417|0.71417	0.006000|0.006000	0.13384|0.13384	0.385000|0.385000	0.30292|0.30292	1.818000|1.818000	0.39012|0.39012	0.067000|0.067000	0.16545|0.16545	0.650000|0.650000	0.86243|0.86243	CAT|TCA		0.328	LRR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410790.1	NM_203467		5	21	0	0	0	1	0	5	21				
LRRC7	57554	broad.mit.edu	37	1	70144085	70144085	+	Silent	SNP	A	A	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:70144085A>G	ENST00000370958.1	+	2	214	c.24A>G	c.(22-24)ggA>ggG	p.G8G	LRRC7_ENST00000310961.5_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	0						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.G8G(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TAATAAGGGGAAGGAATCCCC	0.383																																						ENST00000370958.1																			1	Substitution - coding silent(1)	p.G8G(1)	kidney(1)	breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(22-24)ggA>ggG		leucine rich repeat containing 7							20.0	19.0	19.0					1																	70144085		876	1991	2867	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70144085A>G		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000370958.1:c.24A>G	1.37:g.70144085A>G			Somatic				LRRC7_ENST00000310961.5_5'UTR	p.G8G			WXS	Illumina GAIIx	Phase_I	Q96NW7	LRRC7_HUMAN			2	214	+			0					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000370958.1	37	c.24A>G																																																																																					0.383	LRRC7-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000131263.1	NM_020794		5	10	0	0	0	1	0	5	10				
SLAIN1	122060	broad.mit.edu	37	13	78337278	78337278	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr13:78337278A>T	ENST00000466548.1	+	8	1657		c.e8-1		SLAIN1_ENST00000418532.1_Splice_Site|SLAIN1_ENST00000488699.1_Splice_Site|SLAIN1_ENST00000267219.8_Splice_Site|SLAIN1_ENST00000351546.3_Splice_Site|SLAIN1_ENST00000314070.5_Splice_Site|SLAIN1_ENST00000358679.3_Splice_Site	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1											breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		GTCTCTTTTTAGTTTTCTTCA	0.408																																						ENST00000466548.1																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.e8-1		SLAIN motif family, member 1							181.0	174.0	177.0					13																	78337278		2203	4300	6503	SO:0001630	splice_region_variant	122060							g.chr13:78337278A>T	AK054608	CCDS9460.1, CCDS31995.1, CCDS31995.2, CCDS55901.1, CCDS73588.1, CCDS73589.1	13q22.3	2006-09-12	2006-09-12	2006-09-12	ENSG00000139737	ENSG00000139737			26387	protein-coding gene	gene with protein product		610491	"""chromosome 13 open reading frame 32"""	C13orf32		16546155	Standard	NM_001040153		Approved	FLJ30046	uc001vkk.3	Q8ND83	OTTHUMG00000017110	ENST00000466548.1:c.1632-1A>T	13.37:g.78337278A>T			Somatic				SLAIN1_ENST00000314070.5_Splice_Site|SLAIN1_ENST00000267219.8_Splice_Site|SLAIN1_ENST00000418532.1_Splice_Site|SLAIN1_ENST00000488699.1_Splice_Site|SLAIN1_ENST00000358679.3_Splice_Site|SLAIN1_ENST00000351546.3_Splice_Site		NM_001242868.1	NP_001229797.1	WXS	Illumina GAIIx	Phase_I	Q8ND83	SLAI1_HUMAN		GBM - Glioblastoma multiforme(99;0.0853)	8	1657	+		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)						A8K0Z9|B7Z209|Q5T6P4|Q5T6P7|Q8ND10|Q96NV0	Splice_Site	SNP	ENST00000466548.1	37			.	.	.	.	.	.	.	.	.	.	a	14.95	2.687969	0.48097	.	.	ENSG00000139737	ENST00000466548;ENST00000389459;ENST00000418532;ENST00000488699;ENST00000267219;ENST00000351546;ENST00000314070;ENST00000358679	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9043	0.79412	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLAIN1	77235279	1.000000	0.71417	0.973000	0.42090	0.652000	0.38707	7.840000	0.86819	2.160000	0.67779	0.528000	0.53228	.		0.408	SLAIN1-009	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000355018.1	NM_144595	Intron	5	93	0	0	0	1	0	5	93				
PDZRN4	29951	broad.mit.edu	37	12	41966265	41966265	+	Silent	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:41966265T>C	ENST00000402685.2	+	10	1692	c.1684T>C	c.(1684-1686)Ttg>Ctg	p.L562L	PDZRN4_ENST00000298919.7_Silent_p.L302L|PDZRN4_ENST00000539469.2_Silent_p.L304L	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	562							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGATGAAAGCTTGCGAAATGA	0.493																																						ENST00000298919.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(904-906)Ttg>Ctg		PDZ domain containing ring finger 4							108.0	92.0	98.0					12																	41966265		2203	4300	6503	SO:0001819	synonymous_variant	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966265T>C	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1684T>C	12.37:g.41966265T>C			Somatic				PDZRN4_ENST00000402685.2_Silent_p.L562L|PDZRN4_ENST00000539469.2_Silent_p.L304L	p.L302L			WXS	Illumina GAIIx	Phase_I	Q6ZMN7	PZRN4_HUMAN			10	1292	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	562			PDZ 1.		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Silent	SNP	ENST00000402685.2	37	c.904T>C	CCDS53777.1																																																																																				0.493	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		3	320	0	0	0	1	0	3	320				
ILDR1	286676	broad.mit.edu	37	3	121724198	121724198	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:121724198T>A	ENST00000344209.5	-	3	398	c.272A>T	c.(271-273)gAc>gTc	p.D91V	ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.D103V|ILDR1_ENST00000393631.1_Missense_Mutation_p.D91V|ILDR1_ENST00000273691.3_Missense_Mutation_p.D91V	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	91	Ig-like V-type.				positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)	p.D91V(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GTCGTTGCAGTCATTGGATGG	0.577																																						ENST00000273691.3																			2	Substitution - Missense(2)	p.D91V(2)	kidney(2)	central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(271-273)gAc>gTc		immunoglobulin-like domain containing receptor 1							65.0	64.0	64.0					3																	121724198		2203	4300	6503	SO:0001583	missense	286676					cytosol|integral to membrane|plasma membrane	receptor activity	g.chr3:121724198T>A	BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"""deafness, autosomal recessive 42"""	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.272A>T	3.37:g.121724198T>A	ENSP00000345667:p.Asp91Val		Somatic				ILDR1_ENST00000462014.1_Missense_Mutation_p.D103V|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Missense_Mutation_p.D91V|ILDR1_ENST00000393631.1_Missense_Mutation_p.D91V	p.D91V	NM_175924.3	NP_787120.1	WXS	Illumina GAIIx	Phase_I	Q86SU0	ILDR1_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	3	377	-			91			Ig-like V-type.		Q6ZP61|Q7Z578	Missense_Mutation	SNP	ENST00000344209.5	37	c.272A>T	CCDS56271.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.591922	0.86953	.	.	ENSG00000145103	ENST00000273691;ENST00000344209;ENST00000383663;ENST00000393631;ENST00000462014	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.62	5.62	0.85841	Immunoglobulin subtype (1);	0.000000	0.85682	D	0.000000	T	0.72724	0.3496	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.999;1.0	T	0.76556	-0.2916	10	0.87932	D	0	-26.7101	14.0659	0.64828	0.0:0.0:0.0:1.0	.	91;91;91;103	Q86SU0-5;Q86SU0;Q86SU0-2;Q86SU0-6	.;ILDR1_HUMAN;.;.	V	91;91;91;91;103	ENSP00000273691:D91V;ENSP00000345667:D91V;ENSP00000377251:D91V;ENSP00000419414:D103V	ENSP00000273691:D91V	D	-	2	0	ILDR1	123206888	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.651000	0.83577	2.257000	0.74773	0.455000	0.32223	GAC		0.577	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1	NM_175924		23	86	0	0	0	1	0	23	86				
RBM23	55147	broad.mit.edu	37	14	23374870	23374870	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr14:23374870T>A	ENST00000359890.3	-	6	597		c.e6-2		RBM23_ENST00000346528.5_Intron|RBM23_ENST00000555209.1_Intron|RBM23_ENST00000556984.1_5'Flank|RBM23_ENST00000399922.2_Splice_Site|RBM23_ENST00000542016.2_Splice_Site	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23						mRNA processing (GO:0006397)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		TACCTATAACTAAAGAATAGA	0.398																																						ENST00000359890.3																			0				endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10						c.e6-2		RNA binding motif protein 23							62.0	54.0	57.0					14																	23374870		1844	4094	5938	SO:0001630	splice_region_variant	55147				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr14:23374870T>A	AF275678	CCDS41919.1, CCDS41920.1, CCDS41921.1	14q11.1	2014-07-03	2004-04-23	2004-04-23		ENSG00000100461		"""RNA binding motif (RRM) containing"""	20155	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen recep- tors beta"""		"""RNA-binding region (RNP1, RRM) containing 4"""	RNPC4		15694343	Standard	NM_018107		Approved	FLJ10482, CAPERbeta	uc001whg.3	Q86U06		ENST00000359890.3:c.402-2A>T	14.37:g.23374870T>A			Somatic				RBM23_ENST00000346528.5_Intron|RBM23_ENST00000542016.2_Splice_Site|RBM23_ENST00000555209.1_Intron|RBM23_ENST00000399922.2_Splice_Site		NM_001077351.1	NP_001070819.1	WXS	Illumina GAIIx	Phase_I	Q86U06	RBM23_HUMAN		GBM - Glioblastoma multiforme(265;0.0128)	6	597	-	all_cancers(95;4.69e-05)							D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7	Splice_Site	SNP	ENST00000359890.3	37		CCDS41921.1	.	.	.	.	.	.	.	.	.	.	T	13.51	2.257327	0.39896	.	.	ENSG00000100461	ENST00000359890;ENST00000338980;ENST00000399922	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8912	0.63740	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RBM23	22444710	0.981000	0.34729	0.241000	0.24154	0.005000	0.04900	3.891000	0.56227	2.179000	0.69175	0.533000	0.62120	.		0.398	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413545.3		Intron	4	50	0	0	0	1	0	4	50				
SLC9A2	6549	broad.mit.edu	37	2	103311500	103311500	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:103311500A>T	ENST00000233969.2	+	7	1657		c.e7-1		SLC9A2_ENST00000469286.1_Splice_Site	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2						ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TTTCTGTTTTAGTTGTTTGAT	0.353																																						ENST00000233969.2																			0				breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.e7-1		solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2							211.0	214.0	213.0					2																	103311500		2203	4300	6503	SO:0001630	splice_region_variant	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103311500A>T		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1516-1A>T	2.37:g.103311500A>T			Somatic				SLC9A2_ENST00000469286.1_Splice_Site		NM_003048.3	NP_003039.2	WXS	Illumina GAIIx	Phase_I	Q9UBY0	SL9A2_HUMAN			7	1657	+								B2RMS2	Splice_Site	SNP	ENST00000233969.2	37		CCDS2062.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.097868	0.76870	.	.	ENSG00000115616	ENST00000233969	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC9A2	102677932	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	7.187000	0.77730	2.254000	0.74563	0.533000	0.62120	.		0.353	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2		Intron	10	278	0	0	0	1	0	10	278				
P2RY11	5032	broad.mit.edu	37	19	10225224	10225224	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:10225224T>C	ENST00000321826.4	+	2	1119	c.935T>C	c.(934-936)cTg>cCg	p.L312P	PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.L732P|PPAN_ENST00000556468.1_Missense_Mutation_p.L732P	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11	312					activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)	p.L312P(1)|p.L732P(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CTCATGCCCCTGGCCTTCTGT	0.672																																						ENST00000556468.1																			2	Substitution - Missense(2)	p.L312P(1)|p.L732P(1)	kidney(2)	endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(2194-2196)cTg>cCg		peter pan homolog (Drosophila)							45.0	50.0	48.0					19																	10225224		2203	4300	6503	SO:0001583	missense	56342							g.chr19:10225224T>C	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166	ENST00000321826.4:c.935T>C	19.37:g.10225224T>C	ENSP00000323872:p.Leu312Pro		Somatic				PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.L732P|P2RY11_ENST00000321826.4_Missense_Mutation_p.L312P|PPAN-P2RY11_ENST00000428358.1_3'UTR	p.L732P			WXS	Illumina GAIIx	Phase_I			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		13	2222	+								B2R8X9|O43190|Q9BYU4|Q9H170	Missense_Mutation	SNP	ENST00000321826.4	37	c.2195T>C	CCDS12226.1	.	.	.	.	.	.	.	.	.	.	t	18.08	3.543504	0.65198	.	.	ENSG00000243207;ENSG00000130810;ENSG00000244165	ENST00000393796;ENST00000556468;ENST00000321826	T;T;T	0.44881	0.91;0.91;0.91	3.9	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.211174	0.31268	U	0.007948	T	0.64800	0.2631	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.70410	-0.4879	10	0.87932	D	0	-9.7896	10.7491	0.46198	0.0:0.0:0.0:1.0	.	312	Q96G91	P2Y11_HUMAN	P	732;732;312	ENSP00000377385:L732P;ENSP00000450710:L732P;ENSP00000323872:L312P	ENSP00000323872:L312P	L	+	2	0	PPAN;P2RY11;PPAN-P2RY11	10086224	0.993000	0.37304	0.971000	0.41717	0.805000	0.45488	2.280000	0.43443	1.645000	0.50612	0.454000	0.30748	CTG		0.672	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566		21	49	0	0	0	1	0	21	49				
LHX2	9355	broad.mit.edu	37	9	126783560	126783560	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:126783560G>T	ENST00000373615.4	+	4	1649	c.910G>T	c.(910-912)Ggc>Tgc	p.G304C		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	304					axon extension (GO:0048675)|axon guidance (GO:0007411)|cerebral cortex development (GO:0021987)|dorsal/ventral pattern formation (GO:0009953)|mesoderm development (GO:0007498)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural tube closure (GO:0001843)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|retina development in camera-type eye (GO:0060041)|telencephalon regionalization (GO:0021978)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.G304C(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						GCAAAAGACGGGCCTCACCAA	0.632																																						ENST00000373615.4																			1	Substitution - Missense(1)	p.G304C(1)	kidney(1)	endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						c.(910-912)Ggc>Tgc		LIM homeobox 2							59.0	54.0	55.0					9																	126783560		2203	4300	6503	SO:0001583	missense	9355					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:126783560G>T	U11701	CCDS6853.1	9q33.3	2011-06-20			ENSG00000106689	ENSG00000106689		"""Homeoboxes / LIM class"""	6594	protein-coding gene	gene with protein product		603759				8649822, 10051612	Standard	NM_004789		Approved	LH-2, hLhx2	uc004boe.1	P50458	OTTHUMG00000020647	ENST00000373615.4:c.910G>T	9.37:g.126783560G>T	ENSP00000362717:p.Gly304Cys		Somatic					p.G304C	NM_004789.3	NP_004780.3	WXS	Illumina GAIIx	Phase_I	P50458	LHX2_HUMAN			4	1649	+			304					O95860|Q52M57|Q8N1Z3	Missense_Mutation	SNP	ENST00000373615.4	37	c.910G>T	CCDS6853.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.9|24.9	4.579194|4.579194	0.86645|0.86645	.|.	.|.	ENSG00000106689|ENSG00000106689	ENST00000373615|ENST00000446480	D|.	0.96856|.	-4.15|.	4.98|4.98	4.98|4.98	0.66077|0.66077	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.78717|0.78717	0.4327|0.4327	M|M	0.83603|0.83603	2.65|2.65	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.81046|0.81046	-0.1110|-0.1110	10|6	0.87932|.	D|.	0|.	.|.	17.2507|17.2507	0.87041|0.87041	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	304;304|.	B3KNJ5;P50458|.	.;LHX2_HUMAN|.	C|V	304|309	ENSP00000362717:G304C|.	ENSP00000362717:G304C|.	G|G	+|+	1|2	0|0	LHX2|LHX2	125823381|125823381	1.000000|1.000000	0.71417|0.71417	0.942000|0.942000	0.38095|0.38095	0.993000|0.993000	0.82548|0.82548	9.471000|9.471000	0.97696|0.97696	2.291000|2.291000	0.77112|0.77112	0.561000|0.561000	0.74099|0.74099	GGC|GGG		0.632	LHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054010.2			22	29	1	0	2.32416e-17	1	2.56341e-17	22	29				
BRWD3	254065	broad.mit.edu	37	X	79932277	79932277	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:79932277A>T	ENST00000373275.4	-	41	5456	c.5240T>A	c.(5239-5241)aTt>aAt	p.I1747N	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1747					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCTTGTTTTAATTCGAGGCAG	0.413																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(5239-5241)aTt>aAt		bromodomain and WD repeat domain containing 3							120.0	96.0	104.0					X																	79932277		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79932277A>T		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.5240T>A	X.37:g.79932277A>T	ENSP00000362372:p.Ile1747Asn		Somatic					p.I1747N	NM_153252.4	NP_694984.4	WXS	Illumina GAIIx	Phase_I	Q6RI45	BRWD3_HUMAN			41	5456	-			1747					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.5240T>A	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	A	12.06	1.824725	0.32237	.	.	ENSG00000165288	ENST00000373275	T	0.58210	0.35	4.1	4.1	0.47936	.	0.060872	0.64402	D	0.000004	T	0.45597	0.1350	N	0.14661	0.345	0.45747	D	0.998642	D	0.61080	0.989	P	0.53912	0.737	T	0.36986	-0.9725	9	.	.	.	-12.8188	12.7589	0.57352	1.0:0.0:0.0:0.0	.	1747	Q6RI45	BRWD3_HUMAN	N	1747	ENSP00000362372:I1747N	.	I	-	2	0	BRWD3	79818933	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.163000	0.89659	1.650000	0.50662	0.356000	0.21956	ATT		0.413	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		4	190	0	0	0	1	0	4	190				
SPPL3	121665	broad.mit.edu	37	12	121221557	121221557	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:121221557T>A	ENST00000353487.2	-	5	814		c.e5-2			NM_139015.4	NP_620584.2	Q8TCT6	SPPL3_HUMAN	signal peptide peptidase like 3							Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTGCAAGAACTAGAGAAAGAA	0.378																																						ENST00000353487.2																			0											c.e5-2		signal peptide peptidase like 3							62.0	63.0	63.0					12																	121221557		2203	4300	6503	SO:0001630	splice_region_variant	121665					integral to membrane	aspartic-type endopeptidase activity	g.chr12:121221557T>A		CCDS9208.1	12q24.31	2012-02-21			ENSG00000157837	ENSG00000157837			30424	protein-coding gene	gene with protein product	"""intramembrane protease 2"", ""presenilin-like protein 4"""	608240				12139484	Standard	NM_139015		Approved	IMP2, PSL4, MGC90402, MGC126674, MGC126676, DKFZP586C1324	uc001tzd.3	Q8TCT6	OTTHUMG00000169232	ENST00000353487.2:c.311-2A>T	12.37:g.121221557T>A			Somatic						NM_139015.4	NP_620584.2	WXS	Illumina GAIIx	Phase_I	Q8TCT6	PSL4_HUMAN			5	814	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)							Q3MJ04|Q8TAU4|Q96DD9	Splice_Site	SNP	ENST00000353487.2	37		CCDS9208.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.564247	0.86335	.	.	ENSG00000157837	ENST00000353487;ENST00000405631;ENST00000536996;ENST00000543608;ENST00000543854;ENST00000543181	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9067	0.79436	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	AC069214.1	119705940	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.432000	0.80349	2.241000	0.73720	0.533000	0.62120	.		0.378	SPPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402980.2	NM_139015	Intron	4	46	0	0	0	1	0	4	46				
SIM1	6492	broad.mit.edu	37	6	100841464	100841464	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:100841464C>A	ENST00000369208.3	-	11	2251	c.1469G>T	c.(1468-1470)tGg>tTg	p.W490L	SIM1_ENST00000262901.4_Missense_Mutation_p.W490L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	490	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.W490L(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GCGAGAGCCCCACCAGGGCTC	0.607																																						ENST00000369208.3																			1	Substitution - Missense(1)	p.W490L(1)	kidney(1)	breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(1468-1470)tGg>tTg		single-minded family bHLH transcription factor 1							65.0	69.0	68.0					6																	100841464		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100841464C>A	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1469G>T	6.37:g.100841464C>A	ENSP00000358210:p.Trp490Leu		Somatic				SIM1_ENST00000262901.4_Missense_Mutation_p.W490L	p.W490L			WXS	Illumina GAIIx	Phase_I	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	11	2251	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	490			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.1469G>T	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	32	5.186202	0.94885	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.64085	-0.08;-0.08	5.78	5.78	0.91487	Single-minded, C-terminal (2);	0.105625	0.64402	D	0.000002	T	0.65196	0.2668	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	D	0.66196	0.942	T	0.64063	-0.6495	10	0.45353	T	0.12	.	20.0086	0.97443	0.0:1.0:0.0:0.0	.	490	P81133	SIM1_HUMAN	L	490	ENSP00000358210:W490L;ENSP00000262901:W490L	ENSP00000262901:W490L	W	-	2	0	SIM1	100948185	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.487000	0.81328	2.731000	0.93534	0.655000	0.94253	TGG		0.607	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		25	53	1	0	9.04412e-07	1	9.55365e-07	25	53				
ANKFY1	51479	broad.mit.edu	37	17	4085547	4085547	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:4085547G>A	ENST00000341657.4	-	15	2085	c.2050C>T	c.(2050-2052)Cca>Tca	p.P684S	ANKFY1_ENST00000574367.1_Missense_Mutation_p.P685S|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000573722.1_5'Flank|ANKFY1_ENST00000570535.1_Missense_Mutation_p.P726S	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	684	Interaction with RHOD and RAB5A. {ECO:0000269|PubMed:24102721}.				endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TTCTCATCTGGCACAGACATG	0.567																																						ENST00000341657.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2050-2052)Cca>Tca		ankyrin repeat and FYVE domain containing 1							134.0	134.0	134.0					17																	4085547		2012	4167	6179	SO:0001583	missense	51479					endosome membrane	metal ion binding|protein binding	g.chr17:4085547G>A	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.2050C>T	17.37:g.4085547G>A	ENSP00000343362:p.Pro684Ser		Somatic				ANKFY1_ENST00000574367.1_Missense_Mutation_p.P685S|ANKFY1_ENST00000570535.1_Missense_Mutation_p.P726S|CYB5D2_ENST00000573984.1_Intron	p.P684S	NM_016376.3	NP_057460.3	WXS	Illumina GAIIx	Phase_I	Q9P2R3	ANFY1_HUMAN			15	2085	-			684					A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	ENST00000341657.4	37	c.2050C>T		.	.	.	.	.	.	.	.	.	.	G	11.03	1.518471	0.27211	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	.	.	.	5.61	3.59	0.41128	Ankyrin repeat-containing domain (3);	0.197507	0.45361	D	0.000361	T	0.28167	0.0695	N	0.16602	0.42	0.80722	D	1	B;B;B;B	0.24317	0.0;0.101;0.082;0.0	B;B;B;B	0.22152	0.001;0.038;0.023;0.001	T	0.05784	-1.0864	9	0.07990	T	0.79	-2.6997	5.5006	0.16827	0.075:0.1415:0.6367:0.1467	.	626;684;685;726	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	S	685;626	.	ENSP00000343362:P685S	P	-	1	0	ANKFY1	4032296	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	2.260000	0.43267	0.706000	0.31912	0.650000	0.86243	CCA		0.567	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376		4	424	0	0	0	1	0	4	424				
NEB	4703	broad.mit.edu	37	2	152497182	152497182	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:152497182T>A	ENST00000172853.10	-	61	8521		c.e61-2		NEB_ENST00000409198.1_Splice_Site|NEB_ENST00000427231.2_Splice_Site|NEB_ENST00000603639.1_Splice_Site|NEB_ENST00000397345.3_Splice_Site|NEB_ENST00000604864.1_Splice_Site			P20929	NEBU_HUMAN	nebulin						muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTACTTGAACTAAAAGAAGAA	0.398																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.e61-2		nebulin							72.0	67.0	69.0					2																	152497182		1838	4081	5919	SO:0001630	splice_region_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152497182T>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.8374-2A>T	2.37:g.152497182T>A			Somatic				NEB_ENST00000172853.10_Splice_Site|NEB_ENST00000409198.1_Splice_Site|NEB_ENST00000604864.1_Splice_Site|NEB_ENST00000603639.1_Splice_Site|NEB_ENST00000427231.2_Splice_Site		NM_001164508.1	NP_001157980.1	WXS	Illumina GAIIx	Phase_I	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	61	8576	-								F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Splice_Site	SNP	ENST00000172853.10	37			.	.	.	.	.	.	.	.	.	.	T	25.3	4.623791	0.87460	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NEB	152205428	1.000000	0.71417	0.984000	0.44739	0.886000	0.51366	7.991000	0.88244	2.371000	0.80710	0.533000	0.62120	.		0.398	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	Intron	4	154	0	0	0	1	0	4	154				
PDE11A	50940	broad.mit.edu	37	2	178576587	178576587	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:178576587A>T	ENST00000286063.6	-	13	2380	c.2063T>A	c.(2062-2064)aTt>aAt	p.I688N	PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Missense_Mutation_p.I330N|AC012499.1_ENST00000412133.1_RNA|AC012499.1_ENST00000450227.1_RNA|PDE11A_ENST00000358450.4_Missense_Mutation_p.I438N|PDE11A_ENST00000389683.3_Missense_Mutation_p.I244N|PDE11A_ENST00000449286.2_Missense_Mutation_p.I330N	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	688	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	CTCGGTCAGAATGTCTTGAAA	0.498									Primary Pigmented Nodular Adrenocortical Disease, Familial																													ENST00000286063.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58						c.(2062-2064)aTt>aAt		phosphodiesterase 11A							96.0	79.0	85.0					2																	178576587		2203	4300	6503	SO:0001583	missense	50940	Primary Pigmented Nodular Adrenocortical Disease, Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178576587A>T	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.2063T>A	2.37:g.178576587A>T	ENSP00000286063:p.Ile688Asn		Somatic				PDE11A_ENST00000449286.2_Missense_Mutation_p.I330N|PDE11A_ENST00000389683.3_Missense_Mutation_p.I244N|AC012499.1_ENST00000450227.1_RNA|AC012499.1_ENST00000412133.1_RNA|PDE11A_ENST00000358450.4_Missense_Mutation_p.I438N|PDE11A_ENST00000409504.1_Missense_Mutation_p.I330N|PDE11A_ENST00000497003.1_5'UTR	p.I688N	NM_016953.3	NP_058649.3	WXS	Illumina GAIIx	Phase_I	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		13	2380	-			688			Catalytic (By similarity).		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.2063T>A	CCDS33334.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.88|13.88	2.368364|2.368364	0.42003|0.42003	.|.	.|.	ENSG00000128655|ENSG00000128655	ENST00000433879|ENST00000286063;ENST00000358450;ENST00000409504;ENST00000389683;ENST00000449286	.|D;D;D;D;D	.|0.81739	.|-1.53;-1.53;-1.53;-1.53;-1.53	5.63|5.63	5.63|5.63	0.86233|0.86233	.|Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	.|0.314095	.|0.38164	.|N	.|0.001781	T|T	0.70351|0.70351	0.3214|0.3214	N|N	0.17594|0.17594	0.5|0.5	0.80722|0.80722	D|D	1|1	.|B;B	.|0.34015	.|0.435;0.418	.|B;B	.|0.34242	.|0.076;0.178	T|T	0.73266|0.73266	-0.4037|-0.4037	5|10	.|0.59425	.|D	.|0.04	.|.	16.1307|16.1307	0.81436|0.81436	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|438;688	.|Q9HCR9-2;Q9HCR9	.|.;PDE11_HUMAN	I|N	296|688;438;330;244;330	.|ENSP00000286063:I688N;ENSP00000351232:I438N;ENSP00000386539:I330N;ENSP00000374333:I244N;ENSP00000390599:I330N	.|ENSP00000286063:I688N	F|I	-|-	1|2	0|0	PDE11A|PDE11A	178284833|178284833	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.071000|4.071000	0.57556|0.57556	2.263000|2.263000	0.75096|0.75096	0.533000|0.533000	0.62120|0.62120	TTC|ATT		0.498	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			49	167	0	0	0	1	0	49	167				
SF3B1	23451	broad.mit.edu	37	2	198265658	198265658	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:198265658T>A	ENST00000335508.6	-	18	2590	c.2499A>T	c.(2497-2499)ttA>ttT	p.L833F	SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	833					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TAGTATCAACTAACTAAAAAG	0.328			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(2497-2499)ttA>ttT		splicing factor 3b, subunit 1, 155kDa							53.0	53.0	53.0					2																	198265658		2201	4299	6500	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198265658T>A	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2499A>T	2.37:g.198265658T>A	ENSP00000335321:p.Leu833Phe		Somatic					p.L833F	NM_012433.2	NP_036565.2	WXS	Illumina GAIIx	Phase_I	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		18	2590	-			833					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.2499A>T	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.959700	0.74016	.	.	ENSG00000115524	ENST00000335508	T	0.66280	-0.2	5.77	2.15	0.27550	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77698	0.4169	M	0.91038	3.17	0.80722	D	1	D	0.62365	0.991	P	0.62649	0.905	T	0.77262	-0.2653	10	0.87932	D	0	.	6.8117	0.23809	0.0:0.447:0.0:0.553	.	833	O75533	SF3B1_HUMAN	F	833	ENSP00000335321:L833F	ENSP00000335321:L833F	L	-	3	2	SF3B1	197973903	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.868000	0.56055	0.540000	0.28808	0.533000	0.62120	TTA		0.328	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			3	37	0	0	0	1	0	3	37				
ZCCHC5	203430	broad.mit.edu	37	X	77913051	77913051	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:77913051C>A	ENST00000321110.1	-	2	1162	c.867G>T	c.(865-867)tgG>tgT	p.W289C		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	289							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.W289C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GCTGGAACCACCATCCTGCCC	0.468																																						ENST00000321110.1																			1	Substitution - Missense(1)	p.W289C(1)	kidney(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						c.(865-867)tgG>tgT		zinc finger, CCHC domain containing 5							41.0	38.0	39.0					X																	77913051		2203	4299	6502	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77913051C>A	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.867G>T	X.37:g.77913051C>A	ENSP00000316794:p.Trp289Cys		Somatic					p.W289C	NM_152694.2	NP_689907.1	WXS	Illumina GAIIx	Phase_I	Q8N8U3	ZCHC5_HUMAN			2	1162	-			289					B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.867G>T	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.438295	0.01098	.	.	ENSG00000179300	ENST00000321110	T	0.17370	2.28	3.36	-3.53	0.04667	.	0.761213	0.10696	U	0.644579	T	0.04998	0.0134	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30416	-0.9979	10	0.56958	D	0.05	.	3.6209	0.08096	0.3214:0.2004:0.0:0.4781	.	289	Q8N8U3	ZCHC5_HUMAN	C	289	ENSP00000316794:W289C	ENSP00000316794:W289C	W	-	3	0	ZCCHC5	77799707	0.001000	0.12720	0.000000	0.03702	0.156000	0.22039	-0.537000	0.06128	-1.209000	0.02631	-0.324000	0.08512	TGG		0.468	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		9	29	1	0	0.00829132	1	0.00840336	9	29				
KIF19	124602	broad.mit.edu	37	17	72343936	72343936	+	Silent	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:72343936C>T	ENST00000389916.4	+	9	1083	c.945C>T	c.(943-945)agC>agT	p.S315S		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	315	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.S315S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GAGGAAACAGCCGCACAGTGA	0.612																																						ENST00000389916.4																			1	Substitution - coding silent(1)	p.S315S(1)	kidney(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(943-945)agC>agT		kinesin family member 19							87.0	50.0	63.0					17																	72343936		2201	4287	6488	SO:0001819	synonymous_variant	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72343936C>T	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.945C>T	17.37:g.72343936C>T			Somatic					p.S315S	NM_153209.3	NP_694941.2	WXS	Illumina GAIIx	Phase_I	Q2TAC6	KIF19_HUMAN			9	1083	+			315					A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP	ENST00000389916.4	37	c.945C>T	CCDS32718.2																																																																																				0.612	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		6	10	0	0	0	1	0	6	10				
AFTPH	54812	broad.mit.edu	37	2	64779884	64779884	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:64779884G>C	ENST00000422803.1	+	2	1590	c.1276G>C	c.(1276-1278)Gat>Cat	p.D426H	AFTPH_ENST00000409183.1_Missense_Mutation_p.D57H|AFTPH_ENST00000238855.7_Missense_Mutation_p.D426H|AFTPH_ENST00000238856.4_Missense_Mutation_p.D426H|AFTPH_ENST00000409933.1_Missense_Mutation_p.D426H			Q6ULP2	AFTIN_HUMAN	aftiphilin	426					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)	p.D426H(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GACTTGCAATGATATCAATGA	0.378																																						ENST00000422803.1																			2	Substitution - Missense(2)	p.D426H(2)	kidney(2)	breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(1276-1278)Gat>Cat		aftiphilin							164.0	158.0	160.0					2																	64779884		2203	4300	6503	SO:0001583	missense	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64779884G>C	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.1276G>C	2.37:g.64779884G>C	ENSP00000397726:p.Asp426His		Somatic				AFTPH_ENST00000409933.1_Missense_Mutation_p.D426H|AFTPH_ENST00000238856.4_Missense_Mutation_p.D426H|AFTPH_ENST00000409183.1_Missense_Mutation_p.D57H|AFTPH_ENST00000238855.7_Missense_Mutation_p.D426H	p.D426H			WXS	Illumina GAIIx	Phase_I	Q6ULP2	AFTIN_HUMAN			2	1590	+			426					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37	c.1276G>C		.	.	.	.	.	.	.	.	.	.	G	10.90	1.480957	0.26598	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933;ENST00000409183	T;T;T;T;T	0.47869	1.65;1.65;1.8;1.8;0.83	5.65	3.78	0.43462	.	0.354390	0.28482	N	0.015182	T	0.55625	0.1932	M	0.62723	1.935	0.09310	N	1	P;P;D;D	0.69078	0.729;0.729;0.997;0.997	B;P;P;P	0.59761	0.345;0.545;0.863;0.863	T	0.47636	-0.9102	10	0.54805	T	0.06	-2.257	6.042	0.19740	0.2194:0.1398:0.6408:0.0	.	426;426;426;426	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	H	426;426;426;426;57	ENSP00000238856:D426H;ENSP00000397726:D426H;ENSP00000238855:D426H;ENSP00000387071:D426H;ENSP00000386913:D57H	ENSP00000238855:D426H	D	+	1	0	AFTPH	64633388	0.104000	0.21937	0.742000	0.31022	0.715000	0.41141	1.306000	0.33505	1.381000	0.46364	0.650000	0.86243	GAT		0.378	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		28	225	0	0	0	1	0	28	225				
PPFIA1	8500	broad.mit.edu	37	11	70184559	70184559	+	Splice_Site	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:70184559G>A	ENST00000253925.7	+	13	1786	c.1571G>A	c.(1570-1572)gGc>gAc	p.G524D	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Splice_Site_p.G524D	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	524					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)	p.G524D(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CTTCATCATGGGTATGGTATT	0.478																																						ENST00000253925.7																			1	Substitution - Missense(1)	p.G524D(1)	kidney(1)	breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.e13+1		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1							103.0	97.0	99.0					11																	70184559		2200	4294	6494	SO:0001630	splice_region_variant	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70184559G>A	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.1571+1G>A	11.37:g.70184559G>A			Somatic				PPFIA1_ENST00000389547.3_Splice_Site_p.G524_splice|AP000487.6_ENST00000528607.1_RNA	p.G524_splice	NM_003626.3	NP_003617.1	WXS	Illumina GAIIx	Phase_I	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		13	1786	+			524					A6NLE3|Q13135|Q14567|Q8N4I2	Splice_Site	SNP	ENST00000253925.7	37	c.1571_splice	CCDS31627.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.36|16.36	3.100327|3.100327	0.56183|0.56183	.|.	.|.	ENSG00000131626|ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950|ENST00000530798	T;T|.	0.36340|.	1.26;1.26|.	4.45|4.45	4.45|4.45	0.53987|0.53987	.|.	0.309756|.	0.32068|.	U|.	0.006635|.	T|.	0.58235|.	0.2108|.	L|L	0.36672|0.36672	1.1|1.1	0.53688|0.53688	D|D	0.999971|0.999971	B;B|.	0.20164|.	0.042;0.003|.	B;B|.	0.22601|.	0.04;0.002|.	T|.	0.55256|.	-0.8169|.	10|.	0.42905|.	T|.	0.14|.	.|.	16.0826|16.0826	0.81014|0.81014	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	524;524|.	Q13136;Q13136-2|.	LIPA1_HUMAN;.|.	D|X	524;524;11|75	ENSP00000253925:G524D;ENSP00000374198:G524D|.	ENSP00000253925:G524D|.	G|W	+|+	2|3	0|0	PPFIA1|PPFIA1	69862207|69862207	1.000000|1.000000	0.71417|0.71417	0.715000|0.715000	0.30552|0.30552	0.893000|0.893000	0.52053|0.52053	7.818000|7.818000	0.86416|0.86416	2.217000|2.217000	0.71921|0.71921	0.655000|0.655000	0.94253|0.94253	GGC|TGG		0.478	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626	Missense_Mutation	16	44	0	0	0	1	0	16	44				
CES1	1066	broad.mit.edu	37	16	55862744	55862744	+	Silent	SNP	C	C	T	rs376785712		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr16:55862744C>T	ENST00000361503.4	-	2	322	c.192G>A	c.(190-192)agG>agA	p.R64R	CES1_ENST00000422046.2_Silent_p.R64R|CES1_ENST00000566555.1_5'Flank|CES1_ENST00000360526.3_Silent_p.R65R			P23141	EST1_HUMAN	carboxylesterase 1	64				R -> G (in Ref. 18; CAA37147). {ECO:0000305}.	epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	GTGGAGTAAACCTCAGGGGTC	0.542													.|||	1	0.000199681	0.0008	0.0	5008	,	,		29463	0.0		0.0	False		,,,				2504	0.0				NSCLC(162;1801 2756 42904 52896)	ENST00000422046.2																			0											c.(190-192)agG>agA		carboxylesterase 1	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	C	,,	0,4396		0,0,2198	103.0	100.0	101.0		192,195,192	0.8	1.0	16		101	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	CES1	NM_001025194.1,NM_001025195.1,NM_001266.4	,,	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	,,	64/568,65/569,64/567	55862744	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55862744C>T	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.192G>A	16.37:g.55862744C>T			Somatic				CES1_ENST00000361503.4_Silent_p.R64R|CES1_ENST00000360526.3_Silent_p.R65R	p.R64R			WXS	Illumina GAIIx	Phase_I	P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	2	473	-			64	R -> G (in Ref. 18; CAA37147).				A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Silent	SNP	ENST00000361503.4	37	c.192G>A	CCDS45488.1																																																																																				0.542	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		11	203	0	0	0	1	0	11	203				
ADAM21	8747	broad.mit.edu	37	14	70925009	70925009	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr14:70925009A>T	ENST00000603540.1	+	2	1051	c.793A>T	c.(793-795)Aat>Tat	p.N265Y	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.N265Y	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	265	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N265Y(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GAATCAAGGAAATGTTTTCCC	0.368																																						ENST00000603540.1																			2	Substitution - Missense(2)	p.N265Y(2)	kidney(2)	central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31						c.(793-795)Aat>Tat		ADAM metallopeptidase domain 21							63.0	64.0	64.0					14																	70925009		2203	4300	6503	SO:0001583	missense	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70925009A>T	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.793A>T	14.37:g.70925009A>T	ENSP00000474385:p.Asn265Tyr		Somatic				RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.N265Y	p.N265Y	NM_003813.3	NP_003804.2	WXS	Illumina GAIIx	Phase_I	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	1051	+			265			Peptidase M12B.		O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	c.793A>T	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	A	12.44	1.938438	0.34189	.	.	ENSG00000139985	ENST00000267499	T	0.68025	-0.3	4.1	2.97	0.34412	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.46758	D	0.000275	D	0.82728	0.5100	M	0.92507	3.315	0.09310	N	0.999999	D	0.76494	0.999	D	0.77557	0.99	T	0.72469	-0.4284	10	0.87932	D	0	.	8.5619	0.33516	0.9052:0.0:0.0948:0.0	.	265	Q9UKJ8	ADA21_HUMAN	Y	265	ENSP00000267499:N265Y	ENSP00000267499:N265Y	N	+	1	0	ADAM21	69994762	0.970000	0.33590	0.967000	0.41034	0.715000	0.41141	5.263000	0.65507	1.839000	0.53478	0.455000	0.32223	AAT		0.368	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			76	83	0	0	0	1	0	76	83				
MIR363	574031	broad.mit.edu	37	X	133303638	133303638	+	RNA	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:133303638G>A	ENST00000384840.1	-	0	0				MIR106A_ENST00000384870.1_RNA|MIR20B_ENST00000384977.1_RNA|MIR92A2_ENST00000385299.1_RNA|MIR19B2_ENST00000385077.2_RNA|MIR18B_ENST00000454574.2_RNA	NR_029852.1				microRNA 363																		CCCACCCAGGGATGAATGGGC	0.433																																						ENST00000385299.1																			0																				129.0	108.0	115.0					X																	133303638		1568	3582	5150			407049							g.chrX:133303638G>A			Xq26.2	2012-03-12		2008-12-18	ENSG00000207572	ENSG00000207572		"""ncRNAs / Micro RNAs"""	32023	non-coding RNA	RNA, micro				MIRN363			Standard	NR_029852		Approved	hsa-mir-363, MIR-363	uc022ceb.1				X.37:g.133303638G>A			Somatic						NR_029509.1		WXS	Illumina GAIIx	Phase_I					0	4	-									RNA	SNP	ENST00000384840.1	37																																																																																						0.433	MIR363-201	KNOWN	basic	miRNA	miRNA		NR_029852		15	256	0	0	0	1	0	15	256				
CACNA1E	777	broad.mit.edu	37	1	181750568	181750568	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:181750568G>A	ENST00000367573.2	+	39	5273	c.5273G>A	c.(5272-5274)cGc>cAc	p.R1758H	CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1709H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1739H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1758H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1365H|CACNA1E_ENST00000358338.5_Intron|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R1739H	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1758	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGCAGTGGCCGCATCCATTAC	0.557																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(5215-5217)cGc>cAc		calcium channel, voltage-dependent, R type, alpha 1E subunit							30.0	29.0	29.0					1																	181750568		2028	4191	6219	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181750568G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5273G>A	1.37:g.181750568G>A	ENSP00000356545:p.Arg1758His		Somatic				CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1758H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1739H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1709H|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1758H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1365H|CACNA1E_ENST00000358338.5_Intron	p.R1739H	NM_001205294.1	NP_001192223.1	WXS	Illumina GAIIx	Phase_I	Q15878	CAC1E_HUMAN			38	5381	+			1758			EF-hand.		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.5216G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	33	5.267014	0.95399	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D	0.96830	-4.04;-4.04;-4.14;-4.12;-4.13;-4.14	5.69	5.69	0.88448	.	0.046667	0.85682	D	0.000000	D	0.98406	0.9470	M	0.87328	2.875	0.80722	D	1	D;D	0.89917	0.977;1.0	P;D	0.83275	0.572;0.996	D	0.99136	1.0854	10	0.87932	D	0	.	19.4226	0.94727	0.0:0.0:1.0:0.0	.	1739;1758	Q15878-2;Q15878-3	.;.	H	1758;1739;1709;1365;1739;1758	ENSP00000356542:R1758H;ENSP00000434814:R1739H;ENSP00000350183:R1709H;ENSP00000356539:R1365H;ENSP00000353222:R1739H;ENSP00000356545:R1758H	ENSP00000350183:R1709H	R	+	2	0	CACNA1E	180017191	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.703000	0.98714	2.684000	0.91462	0.650000	0.86243	CGC		0.557	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		3	34	0	0	0	1	0	3	34				
SP4	6671	broad.mit.edu	37	7	21469656	21469656	+	Silent	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:21469656T>C	ENST00000222584.3	+	3	1091	c.873T>C	c.(871-873)gaT>gaC	p.D291D		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	291					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						CTACTGCTGATAGTGGGACTT	0.522																																						ENST00000222584.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(871-873)gaT>gaC		Sp4 transcription factor							121.0	98.0	106.0					7																	21469656		2203	4300	6503	SO:0001819	synonymous_variant	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21469656T>C		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.873T>C	7.37:g.21469656T>C			Somatic					p.D291D	NM_003112.3	NP_003103.2	WXS	Illumina GAIIx	Phase_I	Q02446	SP4_HUMAN			3	1091	+			291					O60402|Q32M52	Silent	SNP	ENST00000222584.3	37	c.873T>C	CCDS5373.1																																																																																				0.522	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		3	86	0	0	0	1	0	3	86				
PRPS2	5634	broad.mit.edu	37	X	12837682	12837682	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:12837682G>A	ENST00000380668.5	+	5	715	c.587G>A	c.(586-588)aGg>aAg	p.R196K	PRPS2_ENST00000398491.2_Missense_Mutation_p.R199K	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	196					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						CACAAAGAGAGGAAGAAGGCG	0.502																																						ENST00000380668.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						c.(586-588)aGg>aAg		phosphoribosyl pyrophosphate synthetase 2							247.0	216.0	227.0					X																	12837682		2203	4300	6503	SO:0001583	missense	5634				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:12837682G>A	Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"""PRS II"", ""ribose-phosphate diphosphokinase 2"""	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.587G>A	X.37:g.12837682G>A	ENSP00000370043:p.Arg196Lys		Somatic				PRPS2_ENST00000398491.2_Missense_Mutation_p.R199K	p.R196K	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	WXS	Illumina GAIIx	Phase_I	P11908	PRPS2_HUMAN			5	715	+			196					Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Missense_Mutation	SNP	ENST00000380668.5	37	c.587G>A	CCDS14150.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.638317	0.67130	.	.	ENSG00000101911	ENST00000380668;ENST00000398491	D;D	0.92495	-3.05;-3.05	4.86	3.96	0.45880	Phosphoribosyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.93575	0.7949	M	0.92459	3.31	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.005	D	0.91378	0.5125	10	0.72032	D	0.01	-27.4528	14.2994	0.66336	0.0:0.1461:0.8539:0.0	.	196;199	P11908;P11908-2	PRPS2_HUMAN;.	K	196;199	ENSP00000370043:R196K;ENSP00000381504:R199K	ENSP00000370043:R196K	R	+	2	0	PRPS2	12747603	1.000000	0.71417	0.995000	0.50966	0.933000	0.57130	9.273000	0.95719	0.902000	0.36520	0.513000	0.50165	AGG		0.502	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055772.2	NM_002765		7	734	0	0	0	1	0	7	734				
KIAA2026	158358	broad.mit.edu	37	9	5921685	5921685	+	Silent	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:5921685A>T	ENST00000399933.3	-	8	4310	c.4311T>A	c.(4309-4311)acT>acA	p.T1437T	KIAA2026_ENST00000381461.2_Silent_p.T1407T	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1437										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		GTTGCTGTTTAGTTGGAGTAT	0.368																																						ENST00000399933.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(4309-4311)acT>acA		KIAA2026							189.0	175.0	179.0					9																	5921685		1910	4121	6031	SO:0001819	synonymous_variant	158358							g.chr9:5921685A>T	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.4311T>A	9.37:g.5921685A>T			Somatic				KIAA2026_ENST00000381461.2_Silent_p.T1407T	p.T1437T	NM_001017969.2	NP_001017969.2	WXS	Illumina GAIIx	Phase_I	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	8	4310	-		Acute lymphoblastic leukemia(23;0.158)	1437					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	ENST00000399933.3	37	c.4311T>A																																																																																					0.368	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		4	110	0	0	0	1	0	4	110				
ZNF714	148206	broad.mit.edu	37	19	21300402	21300402	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:21300402C>A	ENST00000596143.1	+	5	1257	c.932C>A	c.(931-933)tCt>tAt	p.S311Y	ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S416Y(1)|p.S311Y(1)		endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						GGAGAGAAATCTTACAAATGT	0.333																																						ENST00000596143.1																			2	Substitution - Missense(2)	p.S416Y(1)|p.S311Y(1)	kidney(2)	endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						c.(931-933)tCt>tAt		zinc finger protein 714							24.0	27.0	26.0					19																	21300402		2167	4284	6451	SO:0001583	missense	148206				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21300402C>A	AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.932C>A	19.37:g.21300402C>A	ENSP00000472368:p.Ser311Tyr		Somatic				ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR	p.S311Y	NM_182515.3	NP_872321.2	WXS	Illumina GAIIx	Phase_I	Q96N38	ZN714_HUMAN			5	1257	+			312					Q49AI1|Q86W65|Q8ND40	Missense_Mutation	SNP	ENST00000596143.1	37	c.932C>A	CCDS54239.1	.	.	.	.	.	.	.	.	.	.	.	4.413	0.076323	0.08485	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	0.955	0.955	0.19602	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40423	0.1116	L	0.51914	1.62	0.26359	N	0.977078	P;P;P	0.40360	0.534;0.714;0.589	B;B;B	0.43386	0.196;0.418;0.405	T	0.32877	-0.9890	8	0.87932	D	0	.	8.8708	0.35314	0.0:1.0:0.0:0.0	.	312;311;312	Q96N38-2;A6NEM4;Q96N38	.;.;ZN714_HUMAN	Y	311	.	ENSP00000291770:S311Y	S	+	2	0	ZNF714	21092242	0.001000	0.12720	0.060000	0.19600	0.054000	0.15201	0.841000	0.27613	0.446000	0.26666	0.449000	0.29647	TCT		0.333	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515		9	20	1	0	1.12685e-05	1	1.18616e-05	9	20				
TMCO4	255104	broad.mit.edu	37	1	20009748	20009748	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:20009748C>G	ENST00000294543.6	-	16	1931	c.1690G>C	c.(1690-1692)Ggt>Cgt	p.G564R	TMCO4_ENST00000375127.1_Intron|TMCO4_ENST00000375122.2_Missense_Mutation_p.G524R|TMCO4_ENST00000489814.1_5'UTR	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	564						integral component of membrane (GO:0016021)		p.G564R(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GATATGGGACCCTGGGTTTGC	0.667																																						ENST00000294543.6																			1	Substitution - Missense(1)	p.G564R(1)	kidney(1)	biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1690-1692)Ggt>Cgt		transmembrane and coiled-coil domains 4							63.0	68.0	66.0					1																	20009748		2203	4300	6503	SO:0001583	missense	255104					integral to membrane		g.chr1:20009748C>G		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1690G>C	1.37:g.20009748C>G	ENSP00000294543:p.Gly564Arg		Somatic				TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Intron|TMCO4_ENST00000375122.2_Missense_Mutation_p.G524R	p.G564R	NM_181719.4	NP_859070.3	WXS	Illumina GAIIx	Phase_I	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	16	1931	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	564					Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	ENST00000294543.6	37	c.1690G>C	CCDS198.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920717	0.52653	.	.	ENSG00000162542	ENST00000294543;ENST00000375122	T;T	0.32753	1.47;1.44	4.61	4.61	0.57282	.	0.600243	0.14714	N	0.302780	T	0.23532	0.0569	L	0.29908	0.895	0.36908	D	0.890732	B;P	0.40107	0.435;0.703	B;B	0.37508	0.128;0.252	T	0.14448	-1.0472	10	0.22109	T	0.4	-12.8024	14.5439	0.68015	0.0:1.0:0.0:0.0	.	564;524	Q5TGY1;Q5TGY1-2	TMCO4_HUMAN;.	R	564;524	ENSP00000294543:G564R;ENSP00000364264:G524R	ENSP00000294543:G564R	G	-	1	0	TMCO4	19882335	0.000000	0.05858	0.539000	0.28077	0.235000	0.25334	-0.105000	0.10907	2.264000	0.75181	0.655000	0.94253	GGT		0.667	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		20	34	0	0	0	1	0	20	34				
KCNB1	3745	broad.mit.edu	37	20	47990940	47990940	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr20:47990940T>A	ENST00000371741.4	-	2	1323	c.1157A>T	c.(1156-1158)aAg>aTg	p.K386M		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	386					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)	p.K386M(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	CAGGAGAGTCTTGGGGTAGAT	0.512																																						ENST00000371741.4																			1	Substitution - Missense(1)	p.K386M(1)	kidney(1)	central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(1156-1158)aAg>aTg		potassium voltage-gated channel, Shab-related subfamily, member 1							55.0	59.0	57.0					20																	47990940		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47990940T>A	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.1157A>T	20.37:g.47990940T>A	ENSP00000360806:p.Lys386Met		Somatic					p.K386M	NM_004975.2	NP_004966.1	WXS	Illumina GAIIx	Phase_I	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	1323	-			386					Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.1157A>T	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	T	17.93	3.509619	0.64522	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.98567	-5.0	5.91	5.91	0.95273	Ion transport (1);	0.190048	0.53938	D	0.000051	D	0.98523	0.9507	L	0.60012	1.86	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	D	0.99804	1.1037	10	0.62326	D	0.03	.	16.0247	0.80536	0.0:0.0:0.0:1.0	.	386	Q14721	KCNB1_HUMAN	M	386;341	ENSP00000360806:K386M	ENSP00000360806:K386M	K	-	2	0	KCNB1	47424347	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.139000	0.71728	2.266000	0.75297	0.533000	0.62120	AAG		0.512	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		5	107	0	0	0	1	0	5	107				
TAS2R3	50831	broad.mit.edu	37	7	141464695	141464695	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:141464695A>T	ENST00000247879.2	+	1	799	c.737A>T	c.(736-738)tAc>tTc	p.Y246F	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	246					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ttcttactttactttcttgct	0.418																																						ENST00000247879.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14						c.(736-738)tAc>tTc		taste receptor, type 2, member 3							93.0	84.0	87.0					7																	141464695		2203	4300	6503	SO:0001583	missense	50831				sensory perception of taste		taste receptor activity	g.chr7:141464695A>T	AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.737A>T	7.37:g.141464695A>T	ENSP00000247879:p.Tyr246Phe		Somatic				SSBP1_ENST00000465582.1_Intron	p.Y246F	NM_016943.2	NP_058639.1	WXS	Illumina GAIIx	Phase_I	Q9NYW6	TA2R3_HUMAN			1	799	+	Melanoma(164;0.0171)		246					A4D1U2|Q645W2|Q75MV6	Missense_Mutation	SNP	ENST00000247879.2	37	c.737A>T	CCDS5867.1	.	.	.	.	.	.	.	.	.	.	A	15.62	2.886789	0.51908	.	.	ENSG00000127362	ENST00000247879	T	0.01172	5.23	5.71	5.71	0.89125	.	0.146929	0.44097	D	0.000497	T	0.04588	0.0125	L	0.59967	1.855	0.24084	N	0.995936	D	0.89917	1.0	D	0.87578	0.998	T	0.26326	-1.0106	10	0.87932	D	0	.	8.4777	0.33023	0.914:0.0:0.086:0.0	.	246	Q9NYW6	TA2R3_HUMAN	F	246	ENSP00000247879:Y246F	ENSP00000247879:Y246F	Y	+	2	0	TAS2R3	141111164	0.776000	0.28616	0.946000	0.38457	0.325000	0.28411	3.110000	0.50352	2.180000	0.69256	0.455000	0.32223	TAC		0.418	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1			4	143	0	0	0	1	0	4	143				
RSPO4	343637	broad.mit.edu	37	20	948634	948634	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr20:948634C>G	ENST00000217260.4	-	2	323	c.227G>C	c.(226-228)gGg>gCg	p.G76A	RSPO4_ENST00000400634.2_Missense_Mutation_p.G76A	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	76					Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	heparin binding (GO:0008201)	p.G76A(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GCCGAAGTACCCAGGGGGACA	0.602																																						ENST00000217260.4																			1	Substitution - Missense(1)	p.G76A(1)	kidney(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(226-228)gGg>gCg		R-spondin 4							84.0	87.0	86.0					20																	948634		2023	4166	6189	SO:0001583	missense	343637				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr20:948634C>G	AK122609	CCDS42845.1, CCDS42846.1	20p13	2014-01-30	2011-06-29	2005-08-08	ENSG00000101282	ENSG00000101282		"""Endogenous ligands"""	16175	protein-coding gene	gene with protein product		610573	"""chromosome 20 open reading frame 182"", ""R-spondin family, member 4"""	C20orf182		15469841	Standard	NM_001029871		Approved	dJ824F16.3	uc002wej.3	Q2I0M5	OTTHUMG00000031651	ENST00000217260.4:c.227G>C	20.37:g.948634C>G	ENSP00000217260:p.Gly76Ala		Somatic				RSPO4_ENST00000400634.2_Missense_Mutation_p.G76A	p.G76A	NM_001029871.3	NP_001025042.2	WXS	Illumina GAIIx	Phase_I	Q2I0M5	RSPO4_HUMAN			2	323	-			76					A2A2I6|Q9UGB2	Missense_Mutation	SNP	ENST00000217260.4	37	c.227G>C	CCDS42846.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834762	0.91036	.	.	ENSG00000101282	ENST00000217260;ENST00000400634	D;D	0.91577	-2.87;-2.87	5.28	5.28	0.74379	Growth factor, receptor (1);	0.177470	0.36409	N	0.002604	D	0.96225	0.8769	M	0.90595	3.13	0.53688	D	0.999971	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96883	0.9647	10	0.72032	D	0.01	-3.1168	17.4895	0.87699	0.0:1.0:0.0:0.0	.	76;76	Q2I0M5-2;Q2I0M5	.;RSPO4_HUMAN	A	76	ENSP00000217260:G76A;ENSP00000383475:G76A	ENSP00000217260:G76A	G	-	2	0	RSPO4	896634	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.238000	0.78173	2.473000	0.83533	0.563000	0.77884	GGG		0.602	RSPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077492.3	XM_297816		169	333	0	0	0	1	0	169	333				
FAM65A	79567	broad.mit.edu	37	16	67576514	67576514	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr16:67576514A>G	ENST00000379312.3	+	13	1958	c.1837A>G	c.(1837-1839)Acc>Gcc	p.T613A	CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000422602.2_Missense_Mutation_p.T629A|FAM65A_ENST00000540839.3_Missense_Mutation_p.T629A|FAM65A_ENST00000428437.2_Missense_Mutation_p.T623A|CTD-2012K14.3_ENST00000563083.1_RNA|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000042381.4_Missense_Mutation_p.T609A	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	613	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GCCAAGCCCTACCCATACCAC	0.542																																						ENST00000540839.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(1885-1887)Acc>Gcc		family with sequence similarity 65, member A							432.0	402.0	412.0					16																	67576514		2198	4300	6498	SO:0001583	missense	79567					cytoplasm	binding	g.chr16:67576514A>G	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.1837A>G	16.37:g.67576514A>G	ENSP00000368614:p.Thr613Ala		Somatic				FAM65A_ENST00000379312.3_Missense_Mutation_p.T613A|FAM65A_ENST00000428437.2_Missense_Mutation_p.T623A|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000422602.2_Missense_Mutation_p.T629A|FAM65A_ENST00000042381.4_Missense_Mutation_p.T609A	p.T629A			WXS	Illumina GAIIx	Phase_I	Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	14	2105	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	613			Pro-rich.		B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	c.1885A>G	CCDS54028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	11.59|11.59	1.683901|1.683901	0.29872|0.29872	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839|ENST00000428437	T;T;T|.	0.16743|.	2.32;2.32;2.32|.	4.72|4.72	0.699|0.699	0.18093|0.18093	.|.	0.737333|.	0.13664|.	N|.	0.371414|.	T|T	0.16896|0.16896	0.0406|0.0406	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.04013|.	0.0;0.0;0.0;0.001|.	T|T	0.29058|0.29058	-1.0024|-1.0024	10|5	0.34782|.	T|.	0.22|.	-2.8541|-2.8541	7.4237|7.4237	0.27085|0.27085	0.6584:0.0:0.3416:0.0|0.6584:0.0:0.3416:0.0	.|.	623;629;613;629|.	B4DIM2;E9PBS3;Q6ZS17;B4DEQ9|.	.;.;FA65A_HUMAN;.|.	A|C	613;609;629;623|603	ENSP00000368614:T613A;ENSP00000042381:T609A;ENSP00000400099:T629A|.	ENSP00000042381:T609A|.	T|Y	+|+	1|2	0|0	FAM65A|FAM65A	66134015|66134015	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.094000|0.094000	0.18550|0.18550	-0.846000|-0.846000	0.04336|0.04336	0.270000|0.270000	0.21984|0.21984	-0.677000|-0.677000	0.03784|0.03784	ACC|TAC		0.542	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		8	339	0	0	0	1	0	8	339				
SLC33A1	9197	broad.mit.edu	37	3	155546088	155546088	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:155546088C>A	ENST00000392845.3	-	6	1941	c.1561G>T	c.(1561-1563)Gga>Tga	p.G521*	SLC33A1_ENST00000359479.3_Nonsense_Mutation_p.G521*			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	521					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)	p.G521*(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAACCAAATCCAATGAAAACA	0.338																																						ENST00000392845.2																			1	Substitution - Nonsense(1)	p.G521*(1)	kidney(1)	endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22						c.(1561-1563)Gga>Tga		solute carrier family 33 (acetyl-CoA transporter), member 1							80.0	80.0	80.0					3																	155546088		2203	4297	6500	SO:0001587	stop_gained	9197				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	g.chr3:155546088C>A	D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"""Solute carriers"""	95	protein-coding gene	gene with protein product		603690	"""acetyl-Coenzyme A transporter"", ""spastic paraplegia 42 (autosomal dominant)"""	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.1561G>T	3.37:g.155546088C>A	ENSP00000376587:p.Gly521*		Somatic				SLC33A1_ENST00000359479.3_Nonsense_Mutation_p.G521*	p.G521*	NM_004733.3	NP_004724.1	WXS	Illumina GAIIx	Phase_I	O00400	ACATN_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		6	1941	-			521					B2R5Q2|D3DNK4	Nonsense_Mutation	SNP	ENST00000392845.3	37	c.1561G>T	CCDS3173.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.164472|8.164472	0.98686|0.98686	.|.	.|.	ENSG00000169359|ENSG00000169359	ENST00000392845;ENST00000359479;ENST00000496772|ENST00000475842	.|.	.|.	.|.	5.78|5.78	4.89|4.89	0.63831|0.63831	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.66297	.|0.2775	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69273	.|-0.5188	.|3	0.87932|.	D|.	0|.	-13.5195|-13.5195	15.2806|15.2806	0.73781|0.73781	0.0:0.9316:0.0:0.0684|0.0:0.9316:0.0:0.0684	.|.	.|.	.|.	.|.	X|L	521;521;157|240	.|.	ENSP00000352456:G521X|.	G|W	-|-	1|2	0|0	SLC33A1|SLC33A1	157028782|157028782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	5.971000|5.971000	0.70440|0.70440	2.741000|2.741000	0.93983|0.93983	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.338	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3	NM_004733		19	33	1	0	2.94398e-08	1	3.15427e-08	19	33				
OR2M7	391196	broad.mit.edu	37	1	248487519	248487519	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:248487519T>A	ENST00000317965.2	-	1	380	c.352A>T	c.(352-354)Atg>Ttg	p.M118L		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCATAAGACATAACAGCCAAC	0.448																																						ENST00000317965.2																			0				breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42						c.(352-354)Atg>Ttg		olfactory receptor, family 2, subfamily M, member 7							225.0	227.0	226.0					1																	248487519		2203	4300	6503	SO:0001583	missense	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487519T>A	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.352A>T	1.37:g.248487519T>A	ENSP00000324557:p.Met118Leu		Somatic					p.M118L	NM_001004691.1	NP_001004691.1	WXS	Illumina GAIIx	Phase_I	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	380	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		118					B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	c.352A>T	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	T	13.09	2.134304	0.37630	.	.	ENSG00000177186	ENST00000317965	T	0.00892	5.57	1.54	1.54	0.23209	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38897	U	0.001530	T	0.03305	0.0096	H	0.97732	4.065	0.28014	N	0.934801	B	0.17038	0.02	B	0.17979	0.02	T	0.08827	-1.0703	10	0.87932	D	0	.	8.6678	0.34132	0.0:0.0:0.0:1.0	.	118	Q8NG81	OR2M7_HUMAN	L	118	ENSP00000324557:M118L	ENSP00000324557:M118L	M	-	1	0	OR2M7	246554142	1.000000	0.71417	0.079000	0.20413	0.099000	0.18886	6.085000	0.71343	0.703000	0.31848	0.155000	0.16302	ATG		0.448	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		7	648	0	0	0	1	0	7	648				
CA10	56934	broad.mit.edu	37	17	49726541	49726541	+	Splice_Site	SNP	A	A	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:49726541A>G	ENST00000285273.4	-	7	1746		c.e7+1		CA10_ENST00000442502.2_Splice_Site|CA10_ENST00000451037.2_Splice_Site|CA10_ENST00000571918.1_Splice_Site|CA10_ENST00000570565.1_Splice_Site|CA10_ENST00000340813.6_Splice_Site	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X						brain development (GO:0007420)			p.?(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	AACCAAACTTACTTTTATATG	0.383																																						ENST00000451037.2																			1	Unknown(1)	p.?(1)	kidney(1)	cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41						c.e6+1		carbonic anhydrase X							121.0	126.0	124.0					17																	49726541		2203	4300	6503	SO:0001630	splice_region_variant	56934				brain development			g.chr17:49726541A>G	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.634+1T>C	17.37:g.49726541A>G			Somatic				CA10_ENST00000570565.1_Splice_Site|CA10_ENST00000442502.2_Splice_Site|CA10_ENST00000340813.6_Splice_Site|CA10_ENST00000285273.4_Splice_Site|CA10_ENST00000571918.1_Splice_Site		NM_020178.4	NP_064563.1	WXS	Illumina GAIIx	Phase_I	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		6	1575	-								B2R7J0|B4DGL6	Splice_Site	SNP	ENST00000285273.4	37		CCDS32684.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.358044	0.82243	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5469	0.68038	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CA10	47081540	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.546000	0.90661	2.018000	0.59344	0.482000	0.46254	.		0.383	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178	Intron	17	12	0	0	0	1	0	17	12				
SEC16A	9919	broad.mit.edu	37	9	139369264	139369264	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:139369264T>C	ENST00000371706.3	-	1	2303	c.2270A>G	c.(2269-2271)gAg>gGg	p.E757G	SEC16A_ENST00000313050.7_Missense_Mutation_p.E935G|SEC16A_ENST00000290037.6_Missense_Mutation_p.E757G|SEC16A_ENST00000431893.2_Missense_Mutation_p.E757G			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	757					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.E935G(2)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		AACCAAGTTCTCTGGAACTGG	0.473																																						ENST00000313050.7																			2	Substitution - Missense(2)	p.E935G(2)	kidney(2)	breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2803-2805)gAg>gGg		SEC16 homolog A (S. cerevisiae)							99.0	97.0	98.0					9																	139369264		1885	4129	6014	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139369264T>C	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.2270A>G	9.37:g.139369264T>C	ENSP00000360771:p.Glu757Gly		Somatic				SEC16A_ENST00000371706.3_Missense_Mutation_p.E757G|SEC16A_ENST00000431893.2_Missense_Mutation_p.E757G|SEC16A_ENST00000290037.6_Missense_Mutation_p.E757G	p.E935G	NM_014866.1	NP_055681.1	WXS	Illumina GAIIx	Phase_I	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	1	2877	-		Myeloproliferative disorder(178;0.0511)	757			Pro-rich.|Required for endoplasmic reticulum localization.		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.2804A>G		.	.	.	.	.	.	.	.	.	.	T	8.556	0.876585	0.17395	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893	T;T;T;T	0.24350	1.86;1.87;1.87;1.87	4.88	-1.92	0.07618	.	1.636150	0.03170	N	0.170525	T	0.15522	0.0374	L	0.29908	0.895	0.09310	N	0.999999	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.11329	0.002;0.006;0.006	T	0.12863	-1.0531	10	0.23302	T	0.38	-1.4176	0.6289	0.00791	0.2987:0.2887:0.1224:0.2902	.	935;757;757	F1T0I1;O15027-5;O15027-4	.;.;.	G	935;757;757;757	ENSP00000325827:E935G;ENSP00000360771:E757G;ENSP00000290037:E757G;ENSP00000387583:E757G	ENSP00000290037:E757G	E	-	2	0	SEC16A	138489085	0.011000	0.17503	0.000000	0.03702	0.385000	0.30292	0.273000	0.18662	-0.408000	0.07565	-0.256000	0.11100	GAG		0.473	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		37	58	0	0	0	1	0	37	58				
DHRS7B	25979	broad.mit.edu	37	17	21094259	21094259	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:21094259A>T	ENST00000395511.3	+	7	1092		c.e7-1		DHRS7B_ENST00000579303.1_Splice_Site|DHRS7B_ENST00000581463.1_Intron	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						TATTTATTTTAGTTATGGACA	0.517																																						ENST00000395511.3																			1	Unknown(1)	p.?(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						c.e7-1		dehydrogenase/reductase (SDR family) member 7B							82.0	81.0	82.0					17																	21094259		2203	4300	6503	SO:0001630	splice_region_variant	25979					integral to membrane|peroxisomal membrane	binding|oxidoreductase activity	g.chr17:21094259A>T	BC004126	CCDS11215.1	17p12	2011-09-20				ENSG00000109016		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	24547	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 1"""					10810093, 11230166, 19027726	Standard	NM_015510		Approved	DKFZp566O084, MGC8916, CGI-93, SDR32C1	uc002gyo.3	Q6IAN0		ENST00000395511.3:c.773-1A>T	17.37:g.21094259A>T			Somatic				DHRS7B_ENST00000581463.1_Intron|DHRS7B_ENST00000579303.1_Splice_Site		NM_015510.4	NP_056325.2	WXS	Illumina GAIIx	Phase_I	Q6IAN0	DRS7B_HUMAN			7	1092	+								B5MEF4|Q6UX59|Q9BTF9|Q9UFM6|Q9Y3A1	Splice_Site	SNP	ENST00000395511.3	37		CCDS11215.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.592061	0.46214	.	.	ENSG00000109016	ENST00000395511;ENST00000346603	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1502	0.81611	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHRS7B	21034851	1.000000	0.71417	0.745000	0.31077	0.287000	0.27160	8.794000	0.91867	2.224000	0.72417	0.533000	0.62120	.		0.517	DHRS7B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444066.3	NM_015510	Intron	5	67	0	0	0	1	0	5	67				
UHRF1BP1	54887	broad.mit.edu	37	6	34789455	34789455	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:34789455A>T	ENST00000192788.5	+	2	241	c.70A>T	c.(70-72)Aaa>Taa	p.K24*	Y_RNA_ENST00000383990.1_RNA|UHRF1BP1_ENST00000452449.2_Nonsense_Mutation_p.K24*	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	24							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.K24*(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TTCCCCAGACAAAATCAACCT	0.453																																						ENST00000192788.5																			1	Substitution - Nonsense(1)	p.K24*(1)	kidney(1)	breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(70-72)Aaa>Taa		UHRF1 binding protein 1							46.0	47.0	47.0					6																	34789455		1861	4108	5969	SO:0001587	stop_gained	54887							g.chr6:34789455A>T	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.70A>T	6.37:g.34789455A>T	ENSP00000192788:p.Lys24*		Somatic				UHRF1BP1_ENST00000452449.2_Nonsense_Mutation_p.K24*	p.K24*	NM_017754.3	NP_060224.3	WXS	Illumina GAIIx	Phase_I	Q6BDS2	URFB1_HUMAN			2	241	+			24					Q9NXE0	Nonsense_Mutation	SNP	ENST00000192788.5	37	c.70A>T	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	A	37	6.283819	0.97440	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4368	16.1267	0.81400	1.0:0.0:0.0:0.0	.	.	.	.	X	24	.	ENSP00000192788:K24X	K	+	1	0	UHRF1BP1	34897433	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.299000	0.78831	2.205000	0.71048	0.455000	0.32223	AAA		0.453	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		34	61	0	0	0	1	0	34	61				
SYTL4	94121	broad.mit.edu	37	X	99941139	99941139	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:99941139G>A	ENST00000372989.1	-	15	1628	c.1297C>T	c.(1297-1299)Cca>Tca	p.P433S	SYTL4_ENST00000276141.6_Missense_Mutation_p.P433S|SYTL4_ENST00000454200.2_Missense_Mutation_p.P435S|SYTL4_ENST00000263033.5_Missense_Mutation_p.P433S|SYTL4_ENST00000455616.1_Missense_Mutation_p.P433S|SYTL4_ENST00000372981.1_3'UTR	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	433	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.P433S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AGAGATTCTGGGATCTCATAC	0.453																																						ENST00000455616.1																			1	Substitution - Missense(1)	p.P433S(1)	kidney(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27						c.(1297-1299)Cca>Tca		synaptotagmin-like 4	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						47.0	41.0	43.0					X																	99941139		2202	4300	6502	SO:0001583	missense	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	g.chrX:99941139G>A		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.1297C>T	X.37:g.99941139G>A	ENSP00000362080:p.Pro433Ser		Somatic				SYTL4_ENST00000276141.6_Missense_Mutation_p.P433S|SYTL4_ENST00000454200.2_Missense_Mutation_p.P435S|SYTL4_ENST00000372989.1_Missense_Mutation_p.P433S|SYTL4_ENST00000263033.5_Missense_Mutation_p.P433S|SYTL4_ENST00000372981.1_3'UTR	p.P433S			WXS	Illumina GAIIx	Phase_I	Q96C24	SYTL4_HUMAN			14	1643	-			433			C2 1.		Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	c.1297C>T	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	G	2.808	-0.247608	0.05867	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033	T;T;T;T;T	0.08193	3.12;3.12;3.12;3.12;3.12	5.88	2.12	0.27331	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.688831	0.15876	N	0.240296	T	0.03136	0.0092	N	0.04275	-0.24	0.32121	N	0.588037	B	0.02656	0.0	B	0.01281	0.0	T	0.38672	-0.9650	9	.	.	.	0.214	4.8068	0.13325	0.3245:0.0:0.494:0.1816	.	433	Q96C24	SYTL4_HUMAN	S	433;433;435;433;433	ENSP00000362080:P433S;ENSP00000390252:P433S;ENSP00000403556:P435S;ENSP00000276141:P433S;ENSP00000263033:P433S	.	P	-	1	0	SYTL4	99827795	0.998000	0.40836	0.995000	0.50966	0.987000	0.75469	1.115000	0.31209	0.227000	0.20999	0.600000	0.82982	CCA		0.453	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		8	75	0	0	0	1	0	8	75				
NREP	9315	broad.mit.edu	37	5	111071196	111071196	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:111071196G>T	ENST00000379671.3	-	4	276	c.12C>A	c.(10-12)taC>taA	p.Y4*	NREP_ENST00000419114.2_Nonsense_Mutation_p.Y4*|NREP_ENST00000509025.1_Nonsense_Mutation_p.Y4*|NREP_ENST00000450761.2_Nonsense_Mutation_p.Y4*|NREP_ENST00000508870.1_Nonsense_Mutation_p.Y4*|NREP_ENST00000453526.2_Nonsense_Mutation_p.Y4*|NREP_ENST00000515855.1_Nonsense_Mutation_p.Y4*|NREP_ENST00000507742.1_5'UTR|NREP_ENST00000509427.1_Nonsense_Mutation_p.Y4*|NREP_ENST00000257435.7_Nonsense_Mutation_p.Y4*|NREP_ENST00000509979.1_Nonsense_Mutation_p.Y4*|NREP_ENST00000447165.2_Nonsense_Mutation_p.Y4*|NREP_ENST00000455559.2_Nonsense_Mutation_p.Y4*|NREP_ENST00000446294.2_Nonsense_Mutation_p.Y4*|STARD4-AS1_ENST00000500779.2_RNA|NREP_ENST00000395634.3_Nonsense_Mutation_p.Y48*	NM_001142478.1	NP_001135950.1	Q16612	NREP_HUMAN	neuronal regeneration related protein	4					axon regeneration (GO:0031103)|regulation of neuron differentiation (GO:0045664)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Y4*(1)|p.Y48*(1)									AGAGTTCTGGGTAATAAACCT	0.403																																						ENST00000379671.3																			2	Substitution - Nonsense(2)	p.Y4*(1)|p.Y48*(1)	kidney(2)								c.(10-12)taC>taA		neuronal regeneration related protein							88.0	89.0	89.0					5																	111071196		2202	4300	6502	SO:0001587	stop_gained	9315					cytoplasm		g.chr5:111071196G>T	AF119859	CCDS4105.1, CCDS47255.1	5q22.1	2012-12-07	2012-12-07	2012-01-23	ENSG00000134986	ENSG00000134986			16834	protein-coding gene	gene with protein product	"""neuronal protein 3.1"""	607332	"""chromosome 5 open reading frame 13"", ""neuronal regeneration related protein homolog (rat)"""	C5orf13		8261136, 10981724, 15485502	Standard	NM_004772		Approved	P311, D4S114, PRO1873, PTZ17, SEZ17	uc011cvr.2	Q16612	OTTHUMG00000128795	ENST00000379671.3:c.12C>A	5.37:g.111071196G>T	ENSP00000368993:p.Tyr4*		Somatic				NREP_ENST00000419114.2_Nonsense_Mutation_p.Y4*|NREP_ENST00000257435.7_Nonsense_Mutation_p.Y4*|NREP_ENST00000507742.1_5'UTR|NREP_ENST00000447165.2_Nonsense_Mutation_p.Y4*|NREP_ENST00000453526.2_Nonsense_Mutation_p.Y4*|NREP_ENST00000509979.1_Nonsense_Mutation_p.Y4*|NREP_ENST00000515855.1_Nonsense_Mutation_p.Y4*|NREP_ENST00000509427.1_Nonsense_Mutation_p.Y4*|STARD4-AS1_ENST00000500779.2_RNA|NREP_ENST00000455559.2_Nonsense_Mutation_p.Y4*|NREP_ENST00000508870.1_Nonsense_Mutation_p.Y4*|NREP_ENST00000450761.2_Nonsense_Mutation_p.Y4*|NREP_ENST00000395634.3_Nonsense_Mutation_p.Y48*|NREP_ENST00000446294.2_Nonsense_Mutation_p.Y4*|NREP_ENST00000509025.1_Nonsense_Mutation_p.Y4*	p.Y4*	NM_001142478.1	NP_001135950.1	WXS	Illumina GAIIx	Phase_I	Q16612	NP311_HUMAN			4	276	-			4					B2RDN8|B7Z5D2|D3DSZ8	Nonsense_Mutation	SNP	ENST00000379671.3	37	c.12C>A	CCDS4105.1	.	.	.	.	.	.	.	.	.	.	G	34	5.332428	0.95733	.	.	ENSG00000134986	ENST00000509025;ENST00000379671;ENST00000257435;ENST00000447165;ENST00000446294;ENST00000395634;ENST00000515855;ENST00000509979;ENST00000450761;ENST00000419114;ENST00000509427;ENST00000453526;ENST00000455559;ENST00000508870;ENST00000513100;ENST00000508161;ENST00000507032	.	.	.	5.55	4.62	0.57501	.	0.398139	0.21371	N	0.075628	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.824	8.9943	0.36043	0.0:0.171:0.6742:0.1548	.	.	.	.	X	4;4;4;4;4;48;4;4;4;4;4;4;4;4;4;4;4	.	ENSP00000257435:Y4X	Y	-	3	2	C5orf13	111099095	1.000000	0.71417	0.997000	0.53966	0.618000	0.37518	0.900000	0.28431	2.773000	0.95371	0.655000	0.94253	TAC		0.403	NREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250722.1	NM_004772		21	147	1	0	1.37657e-19	1	1.52387e-19	21	147				
BCAR1	9564	broad.mit.edu	37	16	75276902	75276902	+	Silent	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr16:75276902C>A	ENST00000162330.5	-	2	225	c.99G>T	c.(97-99)ctG>ctT	p.L33L	BCAR1_ENST00000542031.2_Silent_p.L31L|BCAR1_ENST00000546196.1_Silent_p.L4L|BCAR1_ENST00000418647.3_Silent_p.L79L|BCAR1_ENST00000420641.3_Silent_p.L51L|BCAR1_ENST00000538440.2_Silent_p.L33L|BCAR1_ENST00000535626.2_Silent_p.L33L|BCAR1_ENST00000393422.2_Silent_p.L51L|BCAR1_ENST00000393420.6_Silent_p.L33L	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	33	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.L33L(2)|p.E34*(2)|p.L79L(1)|p.E80*(1)		breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGTCCTGCTCCAGCACCGTCA	0.632																																						ENST00000546196.1																			6	Substitution - Nonsense(3)|Substitution - coding silent(3)	p.L33L(2)|p.E34*(2)|p.L79L(1)|p.E80*(1)	kidney(6)	breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35						c.(10-12)ctG>ctT		breast cancer anti-estrogen resistance 1							40.0	40.0	40.0					16																	75276902		2197	4300	6497	SO:0001819	synonymous_variant	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75276902C>A	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.99G>T	16.37:g.75276902C>A			Somatic				BCAR1_ENST00000542031.2_Silent_p.L31L|BCAR1_ENST00000420641.3_Silent_p.L51L|BCAR1_ENST00000538440.2_Silent_p.L33L|BCAR1_ENST00000535626.2_Silent_p.L33L|BCAR1_ENST00000393422.2_Silent_p.L51L|BCAR1_ENST00000418647.3_Silent_p.L79L|BCAR1_ENST00000393420.6_Silent_p.L33L|BCAR1_ENST00000162330.5_Silent_p.L33L	p.L4L			WXS	Illumina GAIIx	Phase_I	P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	2	1664	-			33	NHL -> SVP (in Ref. 4; BAB55230).		SH3.		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Silent	SNP	ENST00000162330.5	37	c.12G>T	CCDS10915.1																																																																																				0.632	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		16	27	1	0	2.35188e-11	1	2.56569e-11	16	27				
NCL	4691	broad.mit.edu	37	2	232323744	232323744	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:232323744A>T	ENST00000322723.4	-	7	1373	c.1133T>A	c.(1132-1134)cTa>cAa	p.L378Q	SNORD20_ENST00000384550.1_RNA|SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	378	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TGGTTTCTCTAGTTTAATTTC	0.378																																						ENST00000322723.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35						c.(1132-1134)cTa>cAa		nucleolin							195.0	159.0	171.0					2																	232323744		2203	4300	6503	SO:0001583	missense	4691				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	g.chr2:232323744A>T		CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1133T>A	2.37:g.232323744A>T	ENSP00000318195:p.Leu378Gln		Somatic					p.L378Q	NM_005381.2	NP_005372.2	WXS	Illumina GAIIx	Phase_I	P19338	NUCL_HUMAN		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)	7	1373	-		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)	378			RRM 1.		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	ENST00000322723.4	37	c.1133T>A	CCDS33397.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.374622	0.82573	.	.	ENSG00000115053	ENST00000322723;ENST00000392033	T	0.06687	3.27	5.29	5.29	0.74685	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.072439	0.64402	D	0.000019	T	0.41026	0.1141	H	0.95611	3.695	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	T	0.58070	-0.7701	10	0.87932	D	0	-5.3964	14.4396	0.67306	1.0:0.0:0.0:0.0	.	378	P19338	NUCL_HUMAN	Q	378;270	ENSP00000318195:L378Q	ENSP00000318195:L378Q	L	-	2	0	NCL	232031988	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.920000	0.87521	2.010000	0.58986	0.451000	0.29950	CTA		0.378	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		7	128	0	0	0	1	0	7	128				
RNF168	165918	broad.mit.edu	37	3	196210676	196210676	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:196210676A>T	ENST00000318037.3	-	4	1239	c.645T>A	c.(643-645)agT>agA	p.S215R		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	215					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GTTTGTTCTTACTTTTCTTTT	0.363																																						ENST00000318037.3																			0				NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20						c.(643-645)agT>agA		ring finger protein 168, E3 ubiquitin protein ligase							223.0	213.0	216.0					3																	196210676		2203	4300	6503	SO:0001583	missense	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196210676A>T	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.645T>A	3.37:g.196210676A>T	ENSP00000320898:p.Ser215Arg		Somatic					p.S215R	NM_152617.3	NP_689830.2	WXS	Illumina GAIIx	Phase_I	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	4	1239	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		215					Q8NA67|Q96NS4	Missense_Mutation	SNP	ENST00000318037.3	37	c.645T>A	CCDS3317.1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.459584	0.26248	.	.	ENSG00000163961	ENST00000318037	T	0.07114	3.22	6.06	3.66	0.41972	.	0.427326	0.21827	N	0.068526	T	0.08447	0.0210	M	0.63428	1.95	0.32275	N	0.568292	B	0.12630	0.006	B	0.10450	0.005	T	0.12967	-1.0527	10	0.15952	T	0.53	-2.4676	5.9656	0.19322	0.5946:0.3244:0.081:0.0	.	215	Q8IYW5	RN168_HUMAN	R	215	ENSP00000320898:S215R	ENSP00000320898:S215R	S	-	3	2	RNF168	197695073	0.999000	0.42202	0.979000	0.43373	0.962000	0.63368	0.819000	0.27308	1.071000	0.40834	0.533000	0.62120	AGT		0.363	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		4	94	0	0	0	1	0	4	94				
RIMBP2	23504	broad.mit.edu	37	12	130921595	130921595	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:130921595C>T	ENST00000261655.4	-	10	2010	c.1847G>A	c.(1846-1848)gGt>gAt	p.G616D	RIMBP2_ENST00000536002.1_Missense_Mutation_p.G524D|RIMBP2_ENST00000535703.1_Missense_Mutation_p.G524D	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	616	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGCGTGGGGACCCAGGTGCTC	0.667																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(1846-1848)gGt>gAt		RIMS binding protein 2							72.0	61.0	65.0					12																	130921595		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130921595C>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1847G>A	12.37:g.130921595C>T	ENSP00000261655:p.Gly616Asp		Somatic				RIMBP2_ENST00000536002.1_Missense_Mutation_p.G524D|RIMBP2_ENST00000535703.1_Missense_Mutation_p.G524D	p.G616D	NM_015347.4	NP_056162.4	WXS	Illumina GAIIx	Phase_I	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	10	2010	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	616			Pro-rich.		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.1847G>A	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.133959	0.56828	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.21361	2.01;2.84;2.84	4.63	4.63	0.57726	.	0.643540	0.15154	N	0.277530	T	0.45316	0.1336	M	0.70595	2.14	0.80722	D	1	D;D;D	0.76494	0.961;0.968;0.999	P;P;D	0.64042	0.541;0.687;0.921	T	0.35871	-0.9771	10	0.41790	T	0.15	-4.285	17.4987	0.87725	0.0:1.0:0.0:0.0	.	524;524;616	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	D	616;524;524;524	ENSP00000261655:G616D;ENSP00000440347:G524D;ENSP00000439159:G524D	ENSP00000261655:G616D	G	-	2	0	RIMBP2	129487548	1.000000	0.71417	0.737000	0.30932	0.303000	0.27691	3.495000	0.53280	2.121000	0.65114	0.561000	0.74099	GGT		0.667	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		3	17	0	0	0	1	0	3	17				
ATP8B5P	158381	broad.mit.edu	37	9	35449946	35449946	+	RNA	SNP	G	G	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:35449946G>C	ENST00000430846.1	+	0	2796									ATPase, class I, type 8B, member 5, pseudogene																		CAGTGTCCCAGAAGCCCAGTC	0.403																																						ENST00000430846.1																			0																																																			158381							g.chr9:35449946G>C			9p13.3	2010-09-22			ENSG00000179766	ENSG00000179766		"""ATPases / P-type"""	27245	pseudogene	pseudogene	"""flippase expressed in testis splicing form A pseudogene"""					20210903, 19657017	Standard	NR_003582		Approved	FetA	uc010mkn.2		OTTHUMG00000019862		9.37:g.35449946G>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	2796	+									RNA	SNP	ENST00000430846.1	37																																																																																						0.403	ATP8B5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052312.1	NR_003581.1		42	100	0	0	0	1	0	42	100				
ZFHX3	463	broad.mit.edu	37	16	72822456	72822456	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr16:72822456A>T	ENST00000268489.5	-	10	10391	c.9719T>A	c.(9718-9720)gTa>gAa	p.V3240E	ZFHX3_ENST00000397992.5_Missense_Mutation_p.V2326E|RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3240					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTTCTCCTTTACTTTCTCACT	0.607																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(9718-9720)gTa>gAa		zinc finger homeobox 3							170.0	181.0	177.0					16																	72822456		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72822456A>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.9719T>A	16.37:g.72822456A>T	ENSP00000268489:p.Val3240Glu		Somatic				ZFHX3_ENST00000397992.5_Missense_Mutation_p.V2326E	p.V3240E	NM_006885.3	NP_008816.3	WXS	Illumina GAIIx	Phase_I	Q15911	ZFHX3_HUMAN			10	10391	-		Ovarian(137;0.13)	3240					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.9719T>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	A	8.866	0.948211	0.18356	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.72615	-0.67;-0.64	5.55	-1.1	0.09872	.	0.882556	0.09377	N	0.810433	T	0.46367	0.1389	N	0.04959	-0.14	0.09310	N	1	B	0.17667	0.023	B	0.20384	0.029	T	0.26573	-1.0099	10	0.29301	T	0.29	.	8.4647	0.32949	0.4245:0.4511:0.1244:0.0	.	3240	Q15911	ZFHX3_HUMAN	E	3240;2326	ENSP00000268489:V3240E;ENSP00000438926:V2326E	ENSP00000268489:V3240E	V	-	2	0	ZFHX3	71379957	0.000000	0.05858	0.065000	0.19835	0.975000	0.68041	-0.058000	0.11750	-0.505000	0.06568	0.455000	0.32223	GTA		0.607	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		6	520	0	0	0	1	0	6	520				
XBP1	7494	broad.mit.edu	37	22	29193181	29193181	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:29193181A>C	ENST00000216037.6	-	3	409	c.337T>G	c.(337-339)Ttg>Gtg	p.L113V	XBP1_ENST00000344347.5_Missense_Mutation_p.L113V|XBP1_ENST00000403532.3_Missense_Mutation_p.L118V|XBP1_ENST00000405219.3_Missense_Mutation_p.L63V	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN	X-box binding protein 1	113	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial cell maturation involved in salivary gland development (GO:0060691)|exocrine pancreas development (GO:0031017)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|serotonin secretion, neurotransmission (GO:0060096)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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)			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						TTTTCTAGCAAAAGTTTTTGG	0.383																																						ENST00000216037.6																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						c.(337-339)Ttg>Gtg		X-box binding protein 1							56.0	59.0	58.0					22																	29193181		2203	4300	6503	SO:0001583	missense	7494				immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:29193181A>C	M31627	CCDS13847.1	22q12.1	2013-01-10			ENSG00000100219	ENSG00000100219		"""basic leucine zipper proteins"""	12801	protein-coding gene	gene with protein product		194355		XBP2		1718857, 2196176	Standard	NM_001079539		Approved		uc003aec.3	P17861	OTTHUMG00000151094	ENST00000216037.6:c.337T>G	22.37:g.29193181A>C	ENSP00000216037:p.Leu113Val		Somatic				XBP1_ENST00000344347.5_Missense_Mutation_p.L113V|XBP1_ENST00000403532.3_Missense_Mutation_p.L118V|XBP1_ENST00000405219.3_Missense_Mutation_p.L63V	p.L113V	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	WXS	Illumina GAIIx	Phase_I	P17861	XBP1_HUMAN			3	409	-			113			Leucine-zipper.		Q8WYK6|Q969P1|Q96BD7	Missense_Mutation	SNP	ENST00000216037.6	37	c.337T>G	CCDS13847.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.181145	0.38511	.	.	ENSG00000100219	ENST00000216037;ENST00000403532;ENST00000344347;ENST00000405219	.	.	.	5.87	-1.59	0.08453	.	0.184105	0.47455	D	0.000236	T	0.27098	0.0664	L	0.27053	0.805	0.30787	N	0.741316	B;D	0.54964	0.149;0.969	B;P	0.50590	0.093;0.645	T	0.34850	-0.9812	9	0.29301	T	0.29	.	7.648	0.28331	0.4307:0.0:0.4542:0.115	.	113;63	P17861-2;B1AHH1	.;.	V	113;118;113;63	.	ENSP00000216037:L113V	L	-	1	2	XBP1	27523181	0.991000	0.36638	0.806000	0.32338	0.995000	0.86356	0.451000	0.21779	-0.568000	0.06038	-0.336000	0.08194	TTG		0.383	XBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321274.1	NM_005080		3	48	0	0	0	1	0	3	48				
CACNA1B	774	broad.mit.edu	37	9	140948382	140948382	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:140948382G>A	ENST00000371372.1	+	26	4037	c.3892G>A	c.(3892-3894)Gtc>Atc	p.V1298I	CACNA1B_ENST00000371355.4_Missense_Mutation_p.V1299I|CACNA1B_ENST00000371357.1_Missense_Mutation_p.V1299I|CACNA1B_ENST00000277549.5_Missense_Mutation_p.V494I|CACNA1B_ENST00000371363.1_Missense_Mutation_p.V1298I|CACNA1B_ENST00000277551.2_Missense_Mutation_p.V1298I	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1298					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CATATTTGCCGTCATTGCGGT	0.493																																						ENST00000277549.5																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(1480-1482)Gtc>Atc		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						318.0	320.0	319.0					9																	140948382		2088	4222	6310	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140948382G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.3892G>A	9.37:g.140948382G>A	ENSP00000360423:p.Val1298Ile		Somatic				CACNA1B_ENST00000371372.1_Missense_Mutation_p.V1298I|CACNA1B_ENST00000371363.1_Missense_Mutation_p.V1298I|CACNA1B_ENST00000371357.1_Missense_Mutation_p.V1299I|CACNA1B_ENST00000277551.2_Missense_Mutation_p.V1298I|CACNA1B_ENST00000371355.4_Missense_Mutation_p.V1299I	p.V494I			WXS	Illumina GAIIx	Phase_I	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	27	4049	+	all_cancers(76;0.166)		1298					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.1480G>A	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188959	0.78789	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.98150	-4.75;-4.75;-4.75;-4.75;-4.75;-4.75	4.36	4.36	0.52297	.	0.000000	0.64402	D	0.000001	D	0.97486	0.9177	L	0.28458	0.855	0.80722	D	1	B;D;D	0.76494	0.123;0.999;0.999	B;D;D	0.72075	0.055;0.976;0.976	D	0.98498	1.0613	10	0.54805	T	0.06	.	17.3015	0.87183	0.0:0.0:1.0:0.0	.	1298;1299;1298	B1AQK4;B1AQK7;B1AQK6	.;.;.	I	1298;1298;494;1298;1299;1299	ENSP00000360423:V1298I;ENSP00000277551:V1298I;ENSP00000277549:V494I;ENSP00000360414:V1298I;ENSP00000360408:V1299I;ENSP00000360406:V1299I	ENSP00000277549:V494I	V	+	1	0	CACNA1B	140068203	1.000000	0.71417	0.994000	0.49952	0.723000	0.41478	9.621000	0.98376	2.152000	0.67230	0.306000	0.20318	GTC		0.493	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		5	675	0	0	0	1	0	5	675				
OFD1	8481	broad.mit.edu	37	X	13776512	13776512	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:13776512G>T	ENST00000340096.6	+	15	1926	c.1599G>T	c.(1597-1599)aaG>aaT	p.K533N	OFD1_ENST00000380567.1_Missense_Mutation_p.K393N|OFD1_ENST00000380550.3_Missense_Mutation_p.K493N|OFD1_ENST00000490265.1_3'UTR	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	533					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)	p.K533N(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CTTCTGTAAAGAGTTTAACTA	0.343																																						ENST00000380567.1																			1	Substitution - Missense(1)	p.K533N(1)	kidney(1)	breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(1177-1179)aaG>aaT		oral-facial-digital syndrome 1							56.0	56.0	56.0					X																	13776512		2203	4300	6503	SO:0001583	missense	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13776512G>T	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.1599G>T	X.37:g.13776512G>T	ENSP00000344314:p.Lys533Asn		Somatic				OFD1_ENST00000380550.3_Missense_Mutation_p.K493N|OFD1_ENST00000340096.6_Missense_Mutation_p.K533N|OFD1_ENST00000490265.1_3'UTR	p.K393N			WXS	Illumina GAIIx	Phase_I	O75665	OFD1_HUMAN			16	2051	+			533					B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	ENST00000340096.6	37	c.1179G>T	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	.	8.374	0.835930	0.16820	.	.	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567	D;D;D	0.96522	-2.34;-4.04;-1.94	5.46	2.64	0.31445	.	0.279998	0.38492	N	0.001662	D	0.91253	0.7243	L	0.34521	1.04	0.80722	D	1	B;B;B;B;B	0.27140	0.125;0.125;0.169;0.169;0.125	B;B;B;B;B	0.28553	0.067;0.037;0.091;0.091;0.037	T	0.83287	-0.0035	10	0.33141	T	0.24	-15.7207	5.6009	0.17353	0.2387:0.1395:0.6219:0.0	.	533;493;201;393;533	A8K2T9;O75665-3;B4DLQ3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	N	493;533;393	ENSP00000369923:K493N;ENSP00000344314:K533N;ENSP00000369941:K393N	ENSP00000344314:K533N	K	+	3	2	OFD1	13686433	0.999000	0.42202	0.407000	0.26434	0.247000	0.25773	0.884000	0.28214	0.186000	0.20125	0.600000	0.82982	AAG		0.343	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		7	61	1	0	4.68919e-08	1	4.9885e-08	7	61				
RGAG1	57529	broad.mit.edu	37	X	109697002	109697002	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:109697002G>C	ENST00000465301.2	+	3	3403	c.3157G>C	c.(3157-3159)Ggc>Cgc	p.G1053R	RGAG1_ENST00000540313.1_Missense_Mutation_p.G1053R	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1053										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CTCTGGATGTGGCATGGGTAT	0.532																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(3157-3159)Ggc>Cgc		retrotransposon gag domain containing 1							76.0	73.0	74.0					X																	109697002		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109697002G>C	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.3157G>C	X.37:g.109697002G>C	ENSP00000419786:p.Gly1053Arg		Somatic				RGAG1_ENST00000540313.1_Missense_Mutation_p.G1053R	p.G1053R	NM_020769.2	NP_065820.1	WXS	Illumina GAIIx	Phase_I	Q8NET4	RGAG1_HUMAN			3	3403	+			1053					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.3157G>C	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	0.901	-0.722366	0.03182	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.52983	0.64;0.64	0.235	0.235	0.15431	.	.	.	.	.	T	0.27798	0.0684	L	0.36672	1.1	0.09310	N	0.999995	P	0.45768	0.866	B	0.32583	0.148	T	0.11991	-1.0565	7	.	.	.	.	.	.	.	.	1053	Q8NET4	RGAG1_HUMAN	R	1053;1053;614	ENSP00000419786:G1053R;ENSP00000441452:G1053R	.	G	+	1	0	RGAG1	109583658	0.930000	0.31532	0.269000	0.24586	0.676000	0.39594	0.364000	0.20325	0.288000	0.22398	0.292000	0.19580	GGC		0.532	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		6	339	0	0	0	1	0	6	339				
SORL1	6653	broad.mit.edu	37	11	121437700	121437700	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:121437700C>A	ENST00000260197.7	+	22	3230	c.3101C>A	c.(3100-3102)gCc>gAc	p.A1034D	SORL1_ENST00000525532.1_5'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1034	EGF-like.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)	p.A1034D(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTGCCCAAGGCCAACAACAGT	0.567																																						ENST00000260197.7																			1	Substitution - Missense(1)	p.A1034D(1)	kidney(1)	NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(3100-3102)gCc>gAc		sortilin-related receptor, L(DLR class) A repeats containing							121.0	93.0	102.0					11																	121437700		2203	4299	6502	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121437700C>A	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.3101C>A	11.37:g.121437700C>A	ENSP00000260197:p.Ala1034Asp		Somatic				SORL1_ENST00000525532.1_5'UTR	p.A1034D	NM_003105.5	NP_003096.1	WXS	Illumina GAIIx	Phase_I	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	22	3230	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1034			EGF-like.		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.3101C>A	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745872	0.49151	.	.	ENSG00000137642	ENST00000260197	D	0.91577	-2.87	4.38	3.47	0.39725	Epidermal growth factor-like (1);	0.343623	0.29822	N	0.011111	D	0.85915	0.5808	L	0.57536	1.79	0.80722	D	1	P	0.40144	0.704	B	0.32762	0.152	D	0.84713	0.0735	10	0.66056	D	0.02	.	9.917	0.41442	0.0:0.8329:0.0:0.1671	.	1034	Q92673	SORL_HUMAN	D	1034	ENSP00000260197:A1034D	ENSP00000260197:A1034D	A	+	2	0	SORL1	120942910	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.310000	0.65780	0.960000	0.38005	-0.373000	0.07131	GCC		0.567	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		13	110	1	0	0.000219431	1	0.000228574	13	110				
MUC16	94025	broad.mit.edu	37	19	9015723	9015723	+	Silent	SNP	C	C	T	rs371329008	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:9015723C>T	ENST00000397910.4	-	29	38303	c.38100G>A	c.(38098-38100)ccG>ccA	p.P12700P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12702	SEA 5. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						TGAGGGTGAACGGCACCAGGA	0.468													-|||	7	0.00139776	0.0053	0.0	5008	,	,		14756	0.0		0.0	False		,,,				2504	0.0					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.(38098-38100)ccG>ccA		mucin 16, cell surface associated		C		13,3935		0,13,1961	193.0	169.0	177.0		38100	-5.8	0.0	19	dbSNP_134	177	0,8264		0,0,4132	no	coding-synonymous	MUC16	NM_024690.2		0,13,6093	TT,TC,CC		0.0,0.3293,0.1065		12700/14508	9015723	13,12199	1974	4132	6106	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9015723C>T	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.38100G>A	19.37:g.9015723C>T			Somatic					p.P12700P	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			29	38303	-			12702			SEA 5.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.38100G>A	CCDS54212.1																																																																																				0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		11	1357	0	0	0	1	0	11	1357				
GEMIN5	25929	broad.mit.edu	37	5	154278145	154278145	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:154278145G>A	ENST00000285873.7	-	23	3275	c.3200C>T	c.(3199-3201)tCa>tTa	p.S1067L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1067					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)	p.S1067L(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGTTCTAAGTGATGCCGCATC	0.478																																						ENST00000285873.7																			1	Substitution - Missense(1)	p.S1067L(1)	kidney(1)	breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(3199-3201)tCa>tTa		gem (nuclear organelle) associated protein 5							82.0	74.0	77.0					5																	154278145		2203	4300	6503	SO:0001583	missense	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154278145G>A	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.3200C>T	5.37:g.154278145G>A	ENSP00000285873:p.Ser1067Leu		Somatic					p.S1067L	NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	WXS	Illumina GAIIx	Phase_I	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		23	3275	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	1067					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	c.3200C>T	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	G	34	5.370261	0.95900	.	.	ENSG00000082516	ENST00000285873	T	0.72282	-0.64	5.91	5.91	0.95273	.	0.136284	0.51477	D	0.000096	D	0.85013	0.5600	M	0.75264	2.295	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.85468	0.1171	10	0.87932	D	0	-4.5914	20.2985	0.98592	0.0:0.0:1.0:0.0	.	1066;1067	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	L	1067	ENSP00000285873:S1067L	ENSP00000285873:S1067L	S	-	2	0	GEMIN5	154258338	1.000000	0.71417	0.984000	0.44739	0.967000	0.64934	8.736000	0.91554	2.793000	0.96121	0.655000	0.94253	TCA		0.478	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			4	65	0	0	0	1	0	4	65				
HNRNPCL1	343069	broad.mit.edu	37	1	12907356	12907356	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:12907356C>T	ENST00000317869.6	-	2	1012	c.787G>A	c.(787-789)Ggg>Agg	p.G263R		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	263						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G263R(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TGGTCATCCCCCTGATCTTCA	0.502																																						ENST00000317869.6																			1	Substitution - Missense(1)	p.G263R(1)	kidney(1)	NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(787-789)Ggg>Agg		heterogeneous nuclear ribonucleoprotein C-like 1							143.0	156.0	151.0					1																	12907356		2203	4300	6503	SO:0001583	missense	343069							g.chr1:12907356C>T	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.787G>A	1.37:g.12907356C>T	ENSP00000365370:p.Gly263Arg		Somatic					p.G263R	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	WXS	Illumina GAIIx	Phase_I					2	1012	-								B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.787G>A	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	10.96	1.499023	0.26861	.	.	ENSG00000179172	ENST00000317869	T	0.10192	2.9	1.09	1.09	0.20402	.	0.336255	0.26442	U	0.024359	T	0.25269	0.0614	M	0.65498	2.005	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01099	-1.1452	10	0.72032	D	0.01	.	8.1133	0.30928	0.0:1.0:0.0:0.0	.	263	O60812	HNRCL_HUMAN	R	263	ENSP00000365370:G263R	ENSP00000365370:G263R	G	-	1	0	HNRNPCL1	12829943	0.252000	0.23972	0.006000	0.13384	0.002000	0.02628	3.306000	0.51881	0.916000	0.36871	0.416000	0.27883	GGG		0.502	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		120	344	0	0	0	1	0	120	344				
ACAA1	30	broad.mit.edu	37	3	38163910	38163910	+	IGR	SNP	G	G	A	rs369229329		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:38163910G>A	ENST00000333167.8	-	0	1785				ACAA1_ENST00000480865.1_5'Flank|DLEC1_ENST00000452631.2_3'UTR|DLEC1_ENST00000346219.3_Silent_p.P1717P|Y_RNA_ENST00000365095.1_RNA|DLEC1_ENST00000308059.6_3'UTR	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1						alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)	p.P1717P(2)		endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		CTGAGGCTCCGCCCCAGCCCT	0.612																																						ENST00000346219.3																			2	Substitution - coding silent(2)	p.P1717P(2)	large_intestine(1)|kidney(1)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(5149-5151)ccG>ccA		deleted in lung and esophageal cancer 1		G	,	0,3872		0,0,1936	43.0	47.0	46.0		,5151	1.3	0.1	3		46	1,8297		0,1,4148	no	utr-3,coding-synonymous	DLEC1	NM_007335.2,NM_007337.2	,	0,1,6084	AA,AG,GG		0.0121,0.0,0.0082	,	,1717/1779	38163910	1,12169	1936	4149	6085	SO:0001628	intergenic_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38163910G>A	X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"""peroxisomal 3-oxoacyl-Coenzyme A thiolase"""	604054	"""acetyl-Coenzyme A acyltransferase 1"""				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087		3.37:g.38163910G>A			Somatic				DLEC1_ENST00000452631.2_3'UTR|DLEC1_ENST00000308059.6_3'UTR	p.P1717P	NM_007337.2	NP_031363.2	WXS	Illumina GAIIx	Phase_I	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	36	5172	+			0					G5E935|Q96CA6	Silent	SNP	ENST00000333167.8	37	c.5151G>A	CCDS2673.1																																																																																				0.612	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		47	19	0	0	0	1	0	47	19				
TRIM33	51592	broad.mit.edu	37	1	114968131	114968131	+	Silent	SNP	A	A	T	rs539491304		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:114968131A>T	ENST00000358465.2	-	9	1718	c.1635T>A	c.(1633-1635)acT>acA	p.T545T	TRIM33_ENST00000450349.2_Silent_p.T153T|TRIM33_ENST00000369543.2_Silent_p.T545T	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	545	Poly-Thr.				gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGTTGTTGTAGTTGGTACAG	0.428			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(1633-1635)acT>acA		tripartite motif containing 33							329.0	310.0	316.0					1																	114968131		2203	4300	6503	SO:0001819	synonymous_variant	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114968131A>T	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1635T>A	1.37:g.114968131A>T			Somatic				TRIM33_ENST00000450349.2_Silent_p.T153T|TRIM33_ENST00000369543.2_Silent_p.T545T	p.T545T	NM_015906.3	NP_056990.3	WXS	Illumina GAIIx	Phase_I	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1718	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	545			Poly-Thr.		O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Silent	SNP	ENST00000358465.2	37	c.1635T>A	CCDS872.1	.	.	.	.	.	.	.	.	.	.	A	1.505	-0.551091	0.03996	.	.	ENSG00000197323	ENST00000448034	.	.	.	4.86	-7.91	0.01165	.	.	.	.	.	T	0.04861	0.0131	.	.	.	0.28657	N	0.906343	.	.	.	.	.	.	T	0.22765	-1.0207	4	.	.	.	-1.6547	0.3179	0.00298	0.3705:0.158:0.215:0.2564	.	.	.	.	Q	282	.	.	L	-	2	0	TRIM33	114769654	0.345000	0.24835	0.755000	0.31263	0.205000	0.24178	-0.705000	0.05052	-1.148000	0.02847	-1.721000	0.00707	CTA		0.428	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		8	639	0	0	0	1	0	8	639				
KIAA0368	23392	broad.mit.edu	37	9	114134741	114134741	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:114134741A>T	ENST00000338205.5	-	41	4715	c.4496T>A	c.(4495-4497)tTa>tAa	p.L1499*	KIAA0368_ENST00000259335.4_Nonsense_Mutation_p.L1677*|KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000465499.1_5'Flank			Q5VYK3	ECM29_HUMAN	KIAA0368	1505					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.L1677*(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TTCGGTCCATAAATTACATTC	0.398																																						ENST00000259335.4																			1	Substitution - Nonsense(1)	p.L1677*(1)	kidney(1)	NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(5029-5031)tTa>tAa		KIAA0368							124.0	118.0	120.0					9																	114134741		1864	4105	5969	SO:0001587	stop_gained	23392							g.chr9:114134741A>T	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.4496T>A	9.37:g.114134741A>T	ENSP00000339889:p.Leu1499*		Somatic				KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000338205.5_Nonsense_Mutation_p.L1499*	p.L1677*	NM_001080398.1	NP_001073867.1	WXS	Illumina GAIIx	Phase_I					43	5029	-								O15074|Q8WU82	Nonsense_Mutation	SNP	ENST00000338205.5	37	c.5030T>A		.	.	.	.	.	.	.	.	.	.	A	47	13.839404	0.99766	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	.	.	.	5.94	5.94	0.96194	.	0.083486	0.50627	D	0.000103	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4075	0.83691	1.0:0.0:0.0:0.0	.	.	.	.	X	1499;1677;974	.	ENSP00000259335:L1677X	L	-	2	0	KIAA0368	113174562	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.767000	0.91732	2.275000	0.75901	0.528000	0.53228	TTA		0.398	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		109	206	0	0	0	1	0	109	206				
RRAS2	22800	broad.mit.edu	37	11	14316410	14316410	+	Splice_Site	SNP	T	T	A	rs201547693		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:14316410T>A	ENST00000256196.4	-	3	510		c.e3-2		RRAS2_ENST00000534746.1_Splice_Site|RRAS2_ENST00000414023.2_Splice_Site|RRAS2_ENST00000529237.1_Splice_Site|RRAS2_ENST00000537760.1_Splice_Site|RRAS2_ENST00000532814.1_Splice_Site|RRAS2_ENST00000526063.1_Splice_Site|RRAS2_ENST00000545643.1_Splice_Site			P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2						osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		TATCCAAAACTAAAGAAAAAA	0.398																																						ENST00000545643.1																			0				breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12						c.e3-2		related RAS viral (r-ras) oncogene homolog 2							81.0	85.0	84.0					11																	14316410		2200	4294	6494	SO:0001630	splice_region_variant	22800					endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr11:14316410T>A	M31468	CCDS7814.1, CCDS44544.1, CCDS53603.1	11p15.2	2014-05-09			ENSG00000133818	ENSG00000133818			17271	protein-coding gene	gene with protein product		600098				2108320, 8052619	Standard	NM_012250		Approved	TC21	uc001mlf.4	P62070	OTTHUMG00000165756	ENST00000256196.4:c.197-2A>T	11.37:g.14316410T>A			Somatic				RRAS2_ENST00000532814.1_Splice_Site|RRAS2_ENST00000256196.4_Splice_Site|RRAS2_ENST00000537760.1_Splice_Site|RRAS2_ENST00000526063.1_Splice_Site|RRAS2_ENST00000534746.1_Splice_Site|RRAS2_ENST00000414023.2_Splice_Site|RRAS2_ENST00000529237.1_Splice_Site		NM_012250.5	NP_036382.2	WXS	Illumina GAIIx	Phase_I	P62070	RRAS2_HUMAN		Epithelial(150;0.203)	3	528	-								B2R9Z3|B7Z5Z2|B7Z6C4|B7Z7H6|P17082	Splice_Site	SNP	ENST00000256196.4	37		CCDS7814.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.814905	0.70912	.	.	ENSG00000133818	ENST00000537760;ENST00000545643;ENST00000256196;ENST00000531807	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7521	0.69533	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RRAS2	14272986	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.503000	0.81632	2.031000	0.59945	0.482000	0.46254	.		0.398	RRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386035.1	NM_012250	Intron	11	139	0	0	0	1	0	11	139				
SLC26A4	5172	broad.mit.edu	37	7	107315388	107315388	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:107315388A>T	ENST00000265715.3	+	6	824		c.e6-1			NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4						chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCCTTATCGTAGTTGATATTT	0.398									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.e6-1		solute carrier family 26 (anion exchanger), member 4							211.0	198.0	202.0					7																	107315388		2203	4300	6503	SO:0001630	splice_region_variant	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107315388A>T	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.601-1A>T	7.37:g.107315388A>T			Somatic						NM_000441.1	NP_000432.1	WXS	Illumina GAIIx	Phase_I	O43511	S26A4_HUMAN			6	824	+								B7Z266|O43170	Splice_Site	SNP	ENST00000265715.3	37		CCDS5746.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.797617	0.70567	.	.	ENSG00000091137	ENST00000265715	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7942	0.78398	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC26A4	107102624	1.000000	0.71417	0.995000	0.50966	0.749000	0.42624	8.456000	0.90359	2.135000	0.66039	0.528000	0.53228	.		0.398	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441	Intron	5	329	0	0	0	1	0	5	329				
XKR7	343702	broad.mit.edu	37	20	30556225	30556225	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr20:30556225C>G	ENST00000562532.2	+	1	421	c.247C>G	c.(247-249)Ctg>Gtg	p.L83V		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	83						integral component of membrane (GO:0016021)		p.L83V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTCCTACTACCTGCAGAATCA	0.622																																						ENST00000217299.3																			1	Substitution - Missense(1)	p.L83V(1)	kidney(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(247-249)Ctg>Gtg		XK, Kell blood group complex subunit-related family, member 7							68.0	56.0	60.0					20																	30556225		2203	4300	6503	SO:0001583	missense	343702					integral to membrane		g.chr20:30556225C>G	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.247C>G	20.37:g.30556225C>G	ENSP00000477059:p.Leu83Val		Somatic					p.L83V	NM_001011718.1	NP_001011718.1	WXS	Illumina GAIIx	Phase_I	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		1	421	+			83					Q9NUG5	Missense_Mutation	SNP	ENST00000562532.2	37	c.247C>G	CCDS33459.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460296	0.43736	.	.	ENSG00000101321	ENST00000217299	T	0.64803	-0.12	3.41	2.42	0.29668	.	0.236341	0.27289	N	0.020049	T	0.58148	0.2102	M	0.71581	2.175	0.41522	D	0.988403	P	0.41475	0.751	B	0.42138	0.377	T	0.53961	-0.8364	10	0.16896	T	0.51	-8.897	9.5646	0.39391	0.2278:0.7721:0.0:0.0	.	83	Q5GH72	XKR7_HUMAN	V	83	ENSP00000217299:L83V	ENSP00000217299:L83V	L	+	1	2	XKR7	30019886	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.466000	0.35310	0.716000	0.32124	0.637000	0.83480	CTG		0.622	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718		24	84	0	0	0	1	0	24	84				
TMEM169	92691	broad.mit.edu	37	2	216964913	216964913	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:216964913A>T	ENST00000295658.4	+	3	749	c.542A>T	c.(541-543)tAc>tTc	p.Y181F	TMEM169_ENST00000406027.2_Missense_Mutation_p.Y181F|TMEM169_ENST00000437356.2_Missense_Mutation_p.Y181F|TMEM169_ENST00000454545.1_Missense_Mutation_p.Y181F	NM_001142311.1|NM_001142312.1|NM_138390.3	NP_001135783.1|NP_001135784.1|NP_612399.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	181						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCTCTTTCTACTACGGCACT	0.507																																						ENST00000454545.1																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13						c.(541-543)tAc>tTc		transmembrane protein 169							262.0	224.0	236.0					2																	216964913		2203	4300	6503	SO:0001583	missense	92691					integral to membrane		g.chr2:216964913A>T	AK091582	CCDS2401.1	2q35	2008-02-05			ENSG00000163449	ENSG00000163449			25130	protein-coding gene	gene with protein product						12477932	Standard	NM_001142310		Approved	FLJ34263	uc002vfv.4	Q96HH4	OTTHUMG00000133053	ENST00000295658.4:c.542A>T	2.37:g.216964913A>T	ENSP00000295658:p.Tyr181Phe		Somatic				TMEM169_ENST00000295658.4_Missense_Mutation_p.Y181F|TMEM169_ENST00000437356.2_Missense_Mutation_p.Y181F|TMEM169_ENST00000406027.2_Missense_Mutation_p.Y181F	p.Y181F	NM_001142310.1	NP_001135782.1	WXS	Illumina GAIIx	Phase_I	Q96HH4	TM169_HUMAN		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	868	+		Renal(323;0.0651)	181					B2R8W6	Missense_Mutation	SNP	ENST00000295658.4	37	c.542A>T	CCDS2401.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.420874	0.83559	.	.	ENSG00000163449	ENST00000454545;ENST00000437356;ENST00000295658;ENST00000406027	.	.	.	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.74935	0.3782	M	0.62723	1.935	0.58432	D	0.999999	D	0.71674	0.998	D	0.80764	0.994	T	0.75428	-0.3321	8	.	.	.	-7.8534	13.5509	0.61732	1.0:0.0:0.0:0.0	.	181	Q96HH4	TM169_HUMAN	F	181	.	.	Y	+	2	0	TMEM169	216673158	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.120000	0.94369	1.978000	0.57642	0.533000	0.62120	TAC		0.507	TMEM169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256666.2	NM_138390		16	1594	0	0	0	1	0	16	1594				
GCNT3	9245	broad.mit.edu	37	15	59910566	59910566	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr15:59910566G>A	ENST00000396065.1	+	3	577	c.129G>A	c.(127-129)gaG>gaA	p.E43E	GCNT3_ENST00000560585.1_Silent_p.E43E	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	43					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.E43E(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGGTCTGGAGTCCAGGGAAT	0.488																																						ENST00000396065.1																			1	Substitution - coding silent(1)	p.E43E(1)	kidney(1)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(127-129)gaG>gaA		glucosaminyl (N-acetyl) transferase 3, mucin type							98.0	102.0	101.0					15																	59910566		2190	4290	6480	SO:0001819	synonymous_variant	9245				protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr15:59910566G>A	AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.129G>A	15.37:g.59910566G>A			Somatic				GCNT3_ENST00000560585.1_Silent_p.E43E	p.E43E	NM_004751.2	NP_004742.1	WXS	Illumina GAIIx	Phase_I	O95395	GCNT3_HUMAN			3	577	+			43						Silent	SNP	ENST00000396065.1	37	c.129G>A	CCDS10172.1																																																																																				0.488	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256068.1	NM_004751		56	58	0	0	0	1	0	56	58				
MAST4	375449	broad.mit.edu	37	5	66462356	66462356	+	Missense_Mutation	SNP	G	G	A	rs576028127		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:66462356G>A	ENST00000403625.2	+	29	7644	c.7349G>A	c.(7348-7350)cGa>cAa	p.R2450Q	MAST4_ENST00000261569.7_Missense_Mutation_p.R2256Q|MAST4_ENST00000405643.1_Missense_Mutation_p.R2271Q|MAST4_ENST00000403666.1_Missense_Mutation_p.R2261Q|MAST4_ENST00000404260.3_Missense_Mutation_p.R2453Q	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2453						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.R2453Q(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGTTCTTTCCGATCCACGGCC	0.632											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000404260.3																			1	Substitution - Missense(1)	p.R2453Q(1)	kidney(1)	breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(7357-7359)cGa>cAa		microtubule associated serine/threonine kinase family member 4							17.0	22.0	20.0					5																	66462356		1984	4166	6150	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66462356G>A	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.7349G>A	5.37:g.66462356G>A	ENSP00000385727:p.Arg2450Gln		Somatic	OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1092	MAST4_ENST00000403625.2_Missense_Mutation_p.R2450Q|MAST4_ENST00000261569.7_Missense_Mutation_p.R2256Q|MAST4_ENST00000403666.1_Missense_Mutation_p.R2261Q|MAST4_ENST00000405643.1_Missense_Mutation_p.R2271Q	p.R2453Q			WXS	Illumina GAIIx	Phase_I	O15021	MAST4_HUMAN		Lung(70;0.011)	29	7666	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	2453					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.7358G>A	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.581313	0.28180	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	T;T;T;T;T	0.67171	-0.24;-0.24;-0.25;-0.25;-0.23	4.94	1.98	0.26296	.	0.203577	0.25004	N	0.033884	T	0.63815	0.2543	L	0.29908	0.895	0.09310	N	1	D;D	0.67145	0.993;0.996	P;P	0.56398	0.632;0.797	T	0.56141	-0.8028	10	0.72032	D	0.01	-4.7524	9.3882	0.38356	0.2608:0.0:0.7392:0.0	.	2453;2261	O15021;O15021-3	MAST4_HUMAN;.	Q	2453;2450;2261;2271;2271;2256	ENSP00000385048:R2453Q;ENSP00000385727:R2450Q;ENSP00000384313:R2261Q;ENSP00000384099:R2271Q;ENSP00000261569:R2256Q	ENSP00000261569:R2256Q	R	+	2	0	MAST4	66498112	0.000000	0.05858	0.001000	0.08648	0.064000	0.16182	0.113000	0.15499	0.686000	0.31488	0.462000	0.41574	CGA		0.632	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			4	9	0	0	0	1	0	4	9				
POC1B	282809	broad.mit.edu	37	12	89890946	89890946	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:89890946A>T	ENST00000313546.3	-	3	401		c.e3+1		POC1B_ENST00000378528.2_Splice_Site|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000549035.1_Splice_Site	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B						cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						TGTTTCTCTTACTTATCAGGA	0.453																																						ENST00000313546.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						c.e3+1		POC1 centriolar protein B							121.0	126.0	124.0					12																	89890946		2203	4300	6503	SO:0001630	splice_region_variant	282809							g.chr12:89890946A>T	AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"""WD repeat domain containing"""	30836	protein-coding gene	gene with protein product		614784	"""WD repeat domain 51B"", ""POC1 centriolar protein homolog B (Chlamydomonas)"""	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.272+1T>A	12.37:g.89890946A>T			Somatic				POC1B_ENST00000549504.1_Intron|POC1B_ENST00000549035.1_Splice_Site|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000378528.2_Splice_Site|POC1B_ENST00000541909.1_Intron		NM_172240.2	NP_758440.1	WXS	Illumina GAIIx	Phase_I					3	401	-								G3V1X0	Splice_Site	SNP	ENST00000313546.3	37		CCDS31869.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.128424	0.77549	.	.	ENSG00000139323	ENST00000313546;ENST00000549035	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2484	0.73523	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POC1B	88415077	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.095000	0.94175	2.088000	0.63022	0.383000	0.25322	.		0.453	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240	Intron	5	241	0	0	0	1	0	5	241				
ACSL3	2181	broad.mit.edu	37	2	223782769	223782769	+	Missense_Mutation	SNP	A	A	T	rs375127172		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:223782769A>T	ENST00000357430.3	+	6	1093	c.562A>T	c.(562-564)Aca>Tca	p.T188S	AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Missense_Mutation_p.T188S	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	188					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTTAGTTGTTACATTATATGC	0.348			T	ETV1	prostate																																	ENST00000357430.3				Dom	yes		2	2q36	2181	T	acyl-CoA synthetase long-chain family member 3			E	ETV1		prostate		0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22						c.(562-564)Aca>Tca		acyl-CoA synthetase long-chain family member 3	Icosapent(DB00159)						120.0	116.0	118.0					2																	223782769		2203	4300	6503	SO:0001583	missense	2181				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	g.chr2:223782769A>T	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.562A>T	2.37:g.223782769A>T	ENSP00000350012:p.Thr188Ser		Somatic				AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Missense_Mutation_p.T188S	p.T188S	NM_004457.3	NP_004448.2	WXS	Illumina GAIIx	Phase_I	O95573	ACSL3_HUMAN		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	6	1093	+		Renal(207;0.0183)	188					Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	c.562A>T	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.846478	0.91277	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000540115	T;T;T	0.43294	0.95;0.95;0.95	5.22	5.22	0.72569	AMP-dependent synthetase/ligase (1);	0.097447	0.64402	D	0.000001	T	0.58963	0.2159	L	0.61036	1.89	0.80722	D	1	D	0.59357	0.985	D	0.66847	0.947	T	0.54642	-0.8263	10	0.25106	T	0.35	-17.5461	15.2561	0.73585	1.0:0.0:0.0:0.0	.	188	O95573	ACSL3_HUMAN	S	188;188;36	ENSP00000350012:T188S;ENSP00000375918:T188S;ENSP00000441643:T36S	ENSP00000350012:T188S	T	+	1	0	ACSL3	223491013	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	8.757000	0.91657	2.185000	0.69588	0.533000	0.62120	ACA		0.348	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		12	131	0	0	0	1	0	12	131				
FOXI1	2299	broad.mit.edu	37	5	169533534	169533534	+	Splice_Site	SNP	G	G	A	rs200309754		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:169533534G>A	ENST00000306268.6	+	1	634	c.573G>A	c.(571-573)ccG>ccA	p.P191P	FOXI1_ENST00000449804.2_Splice_Site_p.P191P			Q12951	FOXI1_HUMAN	forkhead box I1	191					embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGACGACCCGGGTAAGGAGG	0.592									Pendred syndrome																													ENST00000449804.2																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.e1+1		forkhead box I1		G	,	0,4402		0,0,2201	32.0	36.0	34.0		573,573	-9.7	0.3	5		34	3,8597	3.0+/-9.4	0,3,4297	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	FOXI1	NM_012188.4,NM_144769.2	,	0,3,6498	AA,AG,GG		0.0349,0.0,0.0231	,	191/379,191/284	169533534	3,12999	2201	4300	6501	SO:0001630	splice_region_variant	2299	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr5:169533534G>A	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.574+1G>A	5.37:g.169533534G>A			Somatic				FOXI1_ENST00000306268.6_Splice_Site_p.P191_splice	p.P191_splice	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	WXS	Illumina GAIIx	Phase_I	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	618	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	191					Q14518|Q66SR7|Q8N6L8	Splice_Site	SNP	ENST00000306268.6	37	c.574_splice	CCDS4372.1																																																																																				0.592	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188	Silent	3	139	0	0	0	1	0	3	139				
DNAH7	56171	broad.mit.edu	37	2	196720569	196720569	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:196720569A>T	ENST00000312428.6	-	45	8661	c.8561T>A	c.(8560-8562)tTa>tAa	p.L2854*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2854	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGTTTATTTAATTCAAGTGT	0.418																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(8560-8562)tTa>tAa		dynein, axonemal, heavy chain 7							251.0	237.0	241.0					2																	196720569		1836	4096	5932	SO:0001587	stop_gained	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196720569A>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.8561T>A	2.37:g.196720569A>T	ENSP00000311273:p.Leu2854*		Somatic					p.L2854*	NM_018897.2	NP_061720.2	WXS	Illumina GAIIx	Phase_I	Q8WXX0	DYH7_HUMAN			45	8661	-			2854			Stalk (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Nonsense_Mutation	SNP	ENST00000312428.6	37	c.8561T>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	A	48	14.008433	0.99775	.	.	ENSG00000118997	ENST00000312428	.	.	.	5.31	2.89	0.33648	.	0.640279	0.14533	N	0.313770	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	3.1499	0.06484	0.3715:0.0:0.1842:0.4443	.	.	.	.	X	2854	.	ENSP00000311273:L2854X	L	-	2	0	DNAH7	196428814	0.005000	0.15991	0.003000	0.11579	0.312000	0.27988	0.845000	0.27668	0.440000	0.26502	0.455000	0.32223	TTA		0.418	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		6	626	0	0	0	1	0	6	626				
PRKAG3	53632	broad.mit.edu	37	2	219691750	219691750	+	Silent	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:219691750G>T	ENST00000529249.1	-	10	1384	c.1069C>A	c.(1069-1071)Cga>Aga	p.R357R	PRKAG3_ENST00000392098.3_Silent_p.S341S|PRKAG3_ENST00000545803.1_Silent_p.R173R|PRKAG3_ENST00000439262.2_Silent_p.R332R			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	357	CBS 3. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	GCCAAGTCTCGGAATGTGCCG	0.592																																						ENST00000439262.2																			0				large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(994-996)Cga>Aga		protein kinase, AMP-activated, gamma 3 non-catalytic subunit							112.0	111.0	111.0					2																	219691750		2203	4300	6503	SO:0001819	synonymous_variant	53632				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	g.chr2:219691750G>T	AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.1069C>A	2.37:g.219691750G>T			Somatic				PRKAG3_ENST00000545803.1_Silent_p.R173R|PRKAG3_ENST00000529249.1_Silent_p.R357R|PRKAG3_ENST00000392098.3_Silent_p.S341S	p.R332R	NM_017431.2	NP_059127.2	WXS	Illumina GAIIx	Phase_I	Q9UGI9	AAKG3_HUMAN		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1089	-		Renal(207;0.0474)	357			CBS 2.		Q4QQG8|Q4V779|Q9NRL1	Silent	SNP	ENST00000529249.1	37	c.994C>A	CCDS2424.1																																																																																				0.592	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1			4	343	1	0	0.150653	1	0.151665	4	343				
SLC5A1	6523	broad.mit.edu	37	22	32495177	32495177	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:32495177A>T	ENST00000266088.4	+	12	1538	c.1288A>T	c.(1288-1290)Atc>Ttc	p.I430F	SLC5A1_ENST00000543737.1_Missense_Mutation_p.I303F	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	430					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	CAGGTTGTTTATCCTGGTGCT	0.368																																						ENST00000266088.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						c.(1288-1290)Atc>Ttc		solute carrier family 5 (sodium/glucose cotransporter), member 1							114.0	105.0	108.0					22																	32495177		2203	4300	6503	SO:0001583	missense	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32495177A>T		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1288A>T	22.37:g.32495177A>T	ENSP00000266088:p.Ile430Phe		Somatic				SLC5A1_ENST00000543737.1_Missense_Mutation_p.I303F	p.I430F	NM_000343.3	NP_000334.1	WXS	Illumina GAIIx	Phase_I	P13866	SC5A1_HUMAN			12	1538	+			430					B2R7E2|B7Z4Q9|B7ZA69	Missense_Mutation	SNP	ENST00000266088.4	37	c.1288A>T	CCDS13902.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.716147	0.89205	.	.	ENSG00000100170	ENST00000266088;ENST00000543737	D;D	0.90444	-2.67;-2.67	5.29	5.29	0.74685	.	0.235577	0.49916	D	0.000123	D	0.93291	0.7862	M	0.83774	2.66	0.80722	D	1	P	0.46064	0.872	P	0.49597	0.616	D	0.94196	0.7445	10	0.87932	D	0	.	14.4294	0.67238	1.0:0.0:0.0:0.0	.	430	P13866	SC5A1_HUMAN	F	430;303	ENSP00000266088:I430F;ENSP00000444898:I303F	ENSP00000266088:I430F	I	+	1	0	SLC5A1	30825177	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.284000	0.78650	2.003000	0.58678	0.455000	0.32223	ATC		0.368	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		6	364	0	0	0	1	0	6	364				
OR6K2	81448	broad.mit.edu	37	1	158670151	158670151	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:158670151G>A	ENST00000359610.2	-	1	335	c.292C>T	c.(292-294)Ctg>Ttg	p.L98L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TACATCTGCAGGAGACAACCA	0.473																																						ENST00000359610.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(292-294)Ctg>Ttg		olfactory receptor, family 6, subfamily K, member 2							101.0	96.0	97.0					1																	158670151		2203	4300	6503	SO:0001819	synonymous_variant	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158670151G>A	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.292C>T	1.37:g.158670151G>A			Somatic					p.L98L	NM_001005279.1	NP_001005279.1	WXS	Illumina GAIIx	Phase_I	Q8NGY2	OR6K2_HUMAN			1	335	-	all_hematologic(112;0.0378)		98					B9EH33|Q6IFR6	Silent	SNP	ENST00000359610.2	37	c.292C>T	CCDS30902.1																																																																																				0.473	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		4	280	0	0	0	1	0	4	280				
CUL9	23113	broad.mit.edu	37	6	43171608	43171608	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:43171608C>T	ENST00000252050.4	+	20	4126	c.4042C>T	c.(4042-4044)Cgc>Tgc	p.R1348C	CUL9_ENST00000354495.3_Missense_Mutation_p.R1238C|CUL9_ENST00000372647.2_Missense_Mutation_p.R1348C	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1348					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CAGGGTTTTGCGCCACGAGCA	0.582																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(4042-4044)Cgc>Tgc		cullin 9							168.0	160.0	163.0					6																	43171608		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43171608C>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.4042C>T	6.37:g.43171608C>T	ENSP00000252050:p.Arg1348Cys		Somatic				CUL9_ENST00000372647.2_Missense_Mutation_p.R1348C|CUL9_ENST00000354495.3_Missense_Mutation_p.R1238C	p.R1348C	NM_015089.2	NP_055904.1	WXS	Illumina GAIIx	Phase_I	Q8IWT3	CUL9_HUMAN			20	4126	+			1348					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.4042C>T	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076813	0.76415	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.75477	-0.94;-0.94;-0.82	5.37	4.44	0.53790	.	0.534882	0.21714	N	0.070239	T	0.77198	0.4095	L	0.52573	1.65	0.48341	D	0.999639	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.983;0.99;0.99	T	0.78828	-0.2050	10	0.87932	D	0	-24.8198	10.945	0.47296	0.1444:0.7162:0.1394:0.0	.	1238;1348;1348	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	C	1348;1238;1348	ENSP00000252050:R1348C;ENSP00000346490:R1238C;ENSP00000361730:R1348C	ENSP00000252050:R1348C	R	+	1	0	CUL9	43279586	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.185000	0.42584	2.659000	0.90383	0.655000	0.94253	CGC		0.582	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		7	970	0	0	0	1	0	7	970				
CPB2	1361	broad.mit.edu	37	13	46632338	46632338	+	Missense_Mutation	SNP	A	A	T	rs150895932		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr13:46632338A>T	ENST00000181383.4	-	9	991	c.975T>A	c.(973-975)agT>agA	p.S325R	CPB2-AS1_ENST00000606991.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.S288R|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	325		Cleavage; by thrombin.			blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		CTTTGCTTTTACTTCGTGTAT	0.328																																						ENST00000181383.4																			0				NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(973-975)agT>agA		carboxypeptidase B2 (plasma)							163.0	157.0	159.0					13																	46632338		2203	4300	6503	SO:0001583	missense	1361				blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr13:46632338A>T	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.975T>A	13.37:g.46632338A>T	ENSP00000181383:p.Ser325Arg		Somatic				CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.S288R|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606351.1_RNA	p.S325R	NM_001872.3	NP_001863.3	WXS	Illumina GAIIx	Phase_I	Q96IY4	CBPB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)	9	991	-		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	325				Cleavage; by thrombin.	A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Missense_Mutation	SNP	ENST00000181383.4	37	c.975T>A	CCDS9401.1	.	.	.	.	.	.	.	.	.	.	A	7.261	0.605207	0.14002	.	.	ENSG00000080618	ENST00000181383;ENST00000439329	T;T	0.11821	2.74;2.74	5.86	5.02	0.67125	Peptidase M14, carboxypeptidase A (2);	0.353337	0.40144	N	0.001172	T	0.09512	0.0234	N	0.25485	0.75	0.35046	D	0.760221	B;B	0.26708	0.157;0.149	B;B	0.22880	0.038;0.042	T	0.24119	-1.0169	10	0.27785	T	0.31	.	10.0135	0.42001	0.0723:0.1365:0.7911:0.0	.	288;325	Q96IY4-2;Q96IY4	.;CBPB2_HUMAN	R	325;288	ENSP00000181383:S325R;ENSP00000400714:S288R	ENSP00000181383:S325R	S	-	3	2	CPB2	45530339	0.017000	0.18338	0.998000	0.56505	0.183000	0.23260	0.024000	0.13555	1.487000	0.48415	-0.146000	0.13790	AGT		0.328	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872		6	212	0	0	0	1	0	6	212				
KMT2C	58508	broad.mit.edu	37	7	151945210	151945210	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:151945210A>T	ENST00000262189.6	-	14	2527	c.2309T>A	c.(2308-2310)tTt>tAt	p.F770Y	KMT2C_ENST00000355193.2_Missense_Mutation_p.F770Y	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	770					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.F770Y(2)									TGATGATGAAAATGATGACTC	0.423																																						ENST00000355193.2																			2	Substitution - Missense(2)	p.F770Y(2)	kidney(2)								c.(2308-2310)tTt>tAt		lysine (K)-specific methyltransferase 2C							157.0	140.0	146.0					7																	151945210		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151945210A>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.2309T>A	7.37:g.151945210A>T	ENSP00000262189:p.Phe770Tyr		Somatic				KMT2C_ENST00000262189.6_Missense_Mutation_p.F770Y	p.F770Y			WXS	Illumina GAIIx	Phase_I					14	2527	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2309T>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	5.333	0.246762	0.10130	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83335	-1.71;-1.71	5.68	4.47	0.54385	.	0.295679	0.23957	N	0.042885	T	0.72447	0.3461	L	0.29908	0.895	0.21220	N	0.999755	B	0.31730	0.337	B	0.25614	0.062	T	0.64850	-0.6310	10	0.66056	D	0.02	.	11.2411	0.48970	0.9246:0.0:0.0754:0.0	.	770	Q8NEZ4	MLL3_HUMAN	Y	770	ENSP00000262189:F770Y;ENSP00000347325:F770Y	ENSP00000262189:F770Y	F	-	2	0	MLL3	151576143	0.147000	0.22687	0.001000	0.08648	0.022000	0.10575	3.882000	0.56160	0.903000	0.36546	0.528000	0.53228	TTT		0.423	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			4	434	0	0	0	1	0	4	434				
ZC3H13	23091	broad.mit.edu	37	13	46543778	46543778	+	Silent	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr13:46543778A>T	ENST00000242848.4	-	14	3249	c.2901T>A	c.(2899-2901)atT>atA	p.I967I	ZC3H13_ENST00000282007.3_Silent_p.I967I|ZC3H13_ENST00000378921.2_5'UTR			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	967	Lys-rich.			I -> K (in Ref. 3; CAD38544). {ECO:0000305}.			metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCTTTTTCTTAATTGGTTTCT	0.368																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(2899-2901)atT>atA		zinc finger CCCH-type containing 13							155.0	151.0	152.0					13																	46543778		2203	4300	6503	SO:0001819	synonymous_variant	23091						nucleic acid binding|zinc ion binding	g.chr13:46543778A>T	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2901T>A	13.37:g.46543778A>T			Somatic				ZC3H13_ENST00000282007.3_Silent_p.I967I|ZC3H13_ENST00000378921.2_5'UTR	p.I967I			WXS	Illumina GAIIx	Phase_I	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	14	3249	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	967	I -> K (in Ref. 3; CAD38544).		Lys-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Silent	SNP	ENST00000242848.4	37	c.2901T>A																																																																																					0.368	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		6	226	0	0	0	1	0	6	226				
TAS2R3	50831	broad.mit.edu	37	7	141464690	141464690	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:141464690A>T	ENST00000247879.2	+	1	794	c.732A>T	c.(730-732)ttA>ttT	p.L244F	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	244					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ttctcttcttactttactttc	0.418																																						ENST00000247879.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14						c.(730-732)ttA>ttT		taste receptor, type 2, member 3							89.0	80.0	83.0					7																	141464690		2203	4300	6503	SO:0001583	missense	50831				sensory perception of taste		taste receptor activity	g.chr7:141464690A>T	AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.732A>T	7.37:g.141464690A>T	ENSP00000247879:p.Leu244Phe		Somatic				SSBP1_ENST00000465582.1_Intron	p.L244F	NM_016943.2	NP_058639.1	WXS	Illumina GAIIx	Phase_I	Q9NYW6	TA2R3_HUMAN			1	794	+	Melanoma(164;0.0171)		244					A4D1U2|Q645W2|Q75MV6	Missense_Mutation	SNP	ENST00000247879.2	37	c.732A>T	CCDS5867.1	.	.	.	.	.	.	.	.	.	.	A	8.103	0.777078	0.16120	.	.	ENSG00000127362	ENST00000247879	T	0.45276	0.9	5.71	-7.17	0.01511	.	0.165520	0.33691	N	0.004660	T	0.23014	0.0556	L	0.35542	1.07	0.09310	N	1	P	0.45634	0.863	P	0.45881	0.496	T	0.32719	-0.9896	10	0.20519	T	0.43	.	3.483	0.07609	0.2732:0.1914:0.4325:0.1029	.	244	Q9NYW6	TA2R3_HUMAN	F	244	ENSP00000247879:L244F	ENSP00000247879:L244F	L	+	3	2	TAS2R3	141111159	0.000000	0.05858	0.369000	0.25952	0.183000	0.23260	-0.935000	0.03950	-0.831000	0.04256	0.455000	0.32223	TTA		0.418	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1			5	132	0	0	0	1	0	5	132				
TMEM87A	25963	broad.mit.edu	37	15	42560232	42560232	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr15:42560232T>A	ENST00000389834.4	-	3	470		c.e3-2		TMEM87A_ENST00000448392.1_Splice_Site|TMEM87A_ENST00000307216.6_Splice_Site|TMEM87A_ENST00000568432.1_Splice_Site	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A							integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		CTCCATCAACTACAAAAGAAG	0.338																																						ENST00000389834.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						c.e3-2		transmembrane protein 87A							78.0	79.0	79.0					15																	42560232		2203	4298	6501	SO:0001630	splice_region_variant	25963					integral to membrane		g.chr15:42560232T>A	AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.206-2A>T	15.37:g.42560232T>A			Somatic				TMEM87A_ENST00000568432.1_Splice_Site|TMEM87A_ENST00000448392.1_Splice_Site|TMEM87A_ENST00000307216.6_Splice_Site		NM_015497.3	NP_056312.2	WXS	Illumina GAIIx	Phase_I	Q8NBN3	TM87A_HUMAN		GBM - Glioblastoma multiforme(94;1.03e-06)	3	470	-		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)						Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Splice_Site	SNP	ENST00000389834.4	37		CCDS32205.1	.	.	.	.	.	.	.	.	.	.	T	18.75	3.690844	0.68271	.	.	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305;ENST00000307216	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3373	0.49511	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM87A	40347524	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	4.008000	0.57103	2.165000	0.68154	0.460000	0.39030	.		0.338	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2	NM_015497	Intron	5	70	0	0	0	1	0	5	70				
FREM2	341640	broad.mit.edu	37	13	39266437	39266437	+	Silent	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr13:39266437C>T	ENST00000280481.7	+	1	5172	c.4956C>T	c.(4954-4956)gaC>gaT	p.D1652D		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1652					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGGCTGTTGACAACAGTGTCC	0.478																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(4954-4956)gaC>gaT		FRAS1 related extracellular matrix protein 2							84.0	83.0	84.0					13																	39266437		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39266437C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4956C>T	13.37:g.39266437C>T			Somatic					p.D1652D	NM_207361.4	NP_997244.3	WXS	Illumina GAIIx	Phase_I	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	5172	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1652					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.4956C>T	CCDS31960.1																																																																																				0.478	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		13	143	0	0	0	1	0	13	143				
ZFAT	57623	broad.mit.edu	37	8	135622826	135622826	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr8:135622826C>T	ENST00000377838.3	-	4	695	c.521G>A	c.(520-522)cGg>cAg	p.R174Q	ZFAT_ENST00000520727.1_Missense_Mutation_p.R162Q|ZFAT_ENST00000429442.2_Missense_Mutation_p.R162Q|ZFAT_ENST00000520214.1_Missense_Mutation_p.R162Q|ZFAT_ENST00000523399.1_Intron|ZFAT_ENST00000520356.1_Missense_Mutation_p.R162Q	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	174					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|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 positive regulation of transcription (GO:0001077)	p.R162Q(1)|p.R174Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TTTCTGTGACCGTGGTCTTTT	0.448																																						ENST00000520727.1																			2	Substitution - Missense(2)	p.R162Q(1)|p.R174Q(1)	endometrium(2)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(484-486)cGg>cAg		zinc finger and AT hook domain containing							161.0	153.0	155.0					8																	135622826		1917	4119	6036	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135622826C>T	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.521G>A	8.37:g.135622826C>T	ENSP00000367069:p.Arg174Gln		Somatic				ZFAT_ENST00000429442.2_Missense_Mutation_p.R162Q|ZFAT_ENST00000377838.3_Missense_Mutation_p.R174Q|ZFAT_ENST00000520214.1_Missense_Mutation_p.R162Q|ZFAT_ENST00000520356.1_Missense_Mutation_p.R162Q|ZFAT_ENST00000523399.1_Intron	p.R162Q	NM_001029939.3	NP_001025110.2	WXS	Illumina GAIIx	Phase_I	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		5	784	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		174					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.485G>A	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.742922	0.69418	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000398946;ENST00000522257	T;T;T;T;T;T	0.50277	2.86;2.8;2.8;2.79;2.8;0.75	5.36	5.36	0.76844	.	0.075937	0.48286	D	0.000183	T	0.60301	0.2258	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	P;D;D	0.83275	0.54;0.996;0.988	T	0.62272	-0.6889	10	0.59425	D	0.04	-29.676	18.0801	0.89440	0.0:1.0:0.0:0.0	.	162;162;174	E9PBN4;Q9P243-3;Q9P243	.;.;ZFAT_HUMAN	Q	162;162;162;174;162;162;162;112	ENSP00000427879:R162Q;ENSP00000427831:R162Q;ENSP00000394501:R162Q;ENSP00000367069:R174Q;ENSP00000428483:R162Q;ENSP00000429983:R112Q	ENSP00000326997:R162Q	R	-	2	0	ZFAT	135692008	0.998000	0.40836	0.075000	0.20258	0.875000	0.50365	5.418000	0.66429	2.498000	0.84270	0.655000	0.94253	CGG		0.448	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		4	443	0	0	0	1	0	4	443				
ITGB4	3691	broad.mit.edu	37	17	73745083	73745083	+	Silent	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:73745083C>T	ENST00000200181.3	+	27	3460	c.3273C>T	c.(3271-3273)caC>caT	p.H1091H	ITGB4_ENST00000449880.2_Silent_p.H1091H|ITGB4_ENST00000339591.3_Silent_p.H1091H|ITGB4_ENST00000450894.3_Silent_p.H1091H|ITGB4_ENST00000579662.1_Silent_p.H1091H	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1091					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)	p.H1091H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGGGGCCCACCTGGGCCAGC	0.642																																						ENST00000200181.3																			1	Substitution - coding silent(1)	p.H1091H(1)	kidney(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(3271-3273)caC>caT		integrin, beta 4							29.0	33.0	32.0					17																	73745083		2203	4300	6503	SO:0001819	synonymous_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73745083C>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.3273C>T	17.37:g.73745083C>T			Somatic				ITGB4_ENST00000450894.3_Silent_p.H1091H|ITGB4_ENST00000579662.1_Silent_p.H1091H|ITGB4_ENST00000449880.2_Silent_p.H1091H|ITGB4_ENST00000339591.3_Silent_p.H1091H	p.H1091H	NM_000213.3	NP_000204.3	WXS	Illumina GAIIx	Phase_I	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		27	3460	+	all_cancers(13;1.5e-07)		1091					A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	ENST00000200181.3	37	c.3273C>T	CCDS11727.1																																																																																				0.642	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			4	13	0	0	0	1	0	4	13				
C15orf27	123591	broad.mit.edu	37	15	76430098	76430098	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr15:76430098T>A	ENST00000388942.3	+	3	365	c.89T>A	c.(88-90)gTa>gAa	p.V30E		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	30					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TCCCAACAAGTAGACGAAGAA	0.527																																						ENST00000388942.3																			0				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						c.(88-90)gTa>gAa		chromosome 15 open reading frame 27							126.0	134.0	132.0					15																	76430098		1982	4160	6142	SO:0001583	missense	123591					integral to membrane		g.chr15:76430098T>A	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.89T>A	15.37:g.76430098T>A	ENSP00000373594:p.Val30Glu		Somatic					p.V30E	NM_152335.2	NP_689548.2	WXS	Illumina GAIIx	Phase_I	Q2M3C6	CO027_HUMAN			3	365	+			30					Q8N993|Q96LL5	Missense_Mutation	SNP	ENST00000388942.3	37	c.89T>A	CCDS10289.2	.	.	.	.	.	.	.	.	.	.	T	18.46	3.628231	0.66901	.	.	ENSG00000169758	ENST00000388942	T	0.45668	0.89	5.16	5.16	0.70880	.	0.122006	0.36374	N	0.002637	T	0.60418	0.2267	M	0.67953	2.075	0.52501	D	0.999952	D	0.89917	1.0	D	0.66979	0.948	T	0.64605	-0.6368	10	0.87932	D	0	-26.8617	13.0329	0.58854	0.0:0.0:0.0:1.0	.	30	Q2M3C6	CO027_HUMAN	E	30	ENSP00000373594:V30E	ENSP00000373594:V30E	V	+	2	0	C15orf27	74217153	1.000000	0.71417	0.929000	0.37066	0.443000	0.32047	5.443000	0.66581	2.061000	0.61500	0.533000	0.62120	GTA		0.527	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335		6	444	0	0	0	1	0	6	444				
ATP5G2	517	broad.mit.edu	37	12	54063711	54063711	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:54063711G>A	ENST00000549164.1	-	3	248	c.61C>T	c.(61-63)Ctg>Ttg	p.L21L	ATP5G2_ENST00000550241.1_5'Flank|ATP5G2_ENST00000602871.1_Silent_p.L21L|ATP5G2_ENST00000394349.3_Silent_p.L78L|ATP5G2_ENST00000338662.5_Silent_p.L37L			Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)	21					ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)|response to ethanol (GO:0045471)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						GGACGGCTCAGCAGCTGTGAG	0.527																																						ENST00000338662.5																			0				kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						c.(109-111)Ctg>Ttg		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)							120.0	97.0	105.0					12																	54063711		2203	4300	6503	SO:0001819	synonymous_variant	517				ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding	g.chr12:54063711G>A	X69908	CCDS8863.2, CCDS31812.1	12q13.13	2012-10-12	2010-06-11		ENSG00000135390	ENSG00000135390		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	842	protein-coding gene	gene with protein product		603193	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 2"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9)"""			8328972	Standard	NM_005176		Approved		uc001sec.3	Q06055	OTTHUMG00000133442	ENST00000549164.1:c.61C>T	12.37:g.54063711G>A			Somatic				ATP5G2_ENST00000602871.1_Silent_p.L21L|ATP5G2_ENST00000549164.1_Silent_p.L21L|ATP5G2_ENST00000394349.3_Silent_p.L78L	p.L37L	NM_001002031.2	NP_001002031.1	WXS	Illumina GAIIx	Phase_I	Q06055	AT5G2_HUMAN			3	1314	-			21					B3KQQ6	Silent	SNP	ENST00000549164.1	37	c.109C>T																																																																																					0.527	ATP5G2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000407403.1	NM_005176		5	226	0	0	0	1	0	5	226				
CHPT1	56994	broad.mit.edu	37	12	102107933	102107933	+	Silent	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:102107933T>A	ENST00000229266.3	+	2	574	c.339T>A	c.(337-339)atT>atA	p.I113I	CHPT1_ENST00000549872.1_Silent_p.I113I|CHPT1_ENST00000550385.1_3'UTR	NM_020244.2	NP_064629.2	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	113					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	diacylglycerol binding (GO:0019992)|diacylglycerol cholinephosphotransferase activity (GO:0004142)|metal ion binding (GO:0046872)	p.I113I(1)		kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TGGATGCTATTGATGGGAAAC	0.383																																						ENST00000549872.1																			1	Substitution - coding silent(1)	p.I113I(1)	kidney(1)	kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(337-339)atT>atA		choline phosphotransferase 1							155.0	167.0	163.0					12																	102107933		2203	4300	6503	SO:0001819	synonymous_variant	56994				platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding	g.chr12:102107933T>A		CCDS9086.1	12q	2010-07-08				ENSG00000111666	2.7.8.2		17852	protein-coding gene	gene with protein product	"""phosphatidylcholine synthesizing enzyme"""					10893425	Standard	NM_020244		Approved	CPT1	uc001tin.3	Q8WUD6		ENST00000229266.3:c.339T>A	12.37:g.102107933T>A			Somatic				CHPT1_ENST00000229266.3_Silent_p.I113I|CHPT1_ENST00000550385.1_3'UTR	p.I113I			WXS	Illumina GAIIx	Phase_I	Q8WUD6	CHPT1_HUMAN			2	529	+			113					B3KQM2|Q7Z7H0|Q7Z7H1|Q7Z7H2|Q8IWQ4|Q8IWQ5|Q8WYI4|Q9NRQ6|Q9NRQ7|Q9Y6M6	Silent	SNP	ENST00000229266.3	37	c.339T>A	CCDS9086.1																																																																																				0.383	CHPT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409173.1	NM_020244		77	160	0	0	0	1	0	77	160				
PIGM	93183	broad.mit.edu	37	1	160000335	160000335	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:160000335T>A	ENST00000368090.2	-	1	1448	c.1195A>T	c.(1195-1197)Atc>Ttc	p.I399F		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	399					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAACAATTGATAAGAAGAAAG	0.403																																						ENST00000368090.2																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17						c.(1195-1197)Atc>Ttc		phosphatidylinositol glycan anchor biosynthesis, class M							116.0	118.0	117.0					1																	160000335		2203	4300	6503	SO:0001583	missense	93183				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane		g.chr1:160000335T>A	AB028127	CCDS1192.1	1q23.2	2013-02-26	2006-06-28		ENSG00000143315	ENSG00000143315		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	18858	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 1"", ""DPM:GlcN-(acyl-)PI mannosyltransferase"", ""dol-P-Man dependent GPI mannosyltransferase"""	610273	"""phosphatidylinositol glycan, class M"""			11226175	Standard	NM_145167		Approved	GPI-MT-I	uc001fuv.1	Q9H3S5	OTTHUMG00000024081	ENST00000368090.2:c.1195A>T	1.37:g.160000335T>A	ENSP00000357069:p.Ile399Phe		Somatic					p.I399F	NM_145167.2	NP_660150.1	WXS	Illumina GAIIx	Phase_I	Q9H3S5	PIGM_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		1	1448	-	all_hematologic(112;0.093)		399						Missense_Mutation	SNP	ENST00000368090.2	37	c.1195A>T	CCDS1192.1	.	.	.	.	.	.	.	.	.	.	T	11.48	1.650014	0.29336	.	.	ENSG00000143315	ENST00000368090	T	0.44482	0.92	5.3	3.03	0.35002	.	0.119638	0.56097	D	0.000033	T	0.21387	0.0515	M	0.64997	1.995	0.51767	D	0.999936	B	0.25048	0.117	B	0.32211	0.142	T	0.05370	-1.0889	9	.	.	.	-18.4821	5.909	0.19016	0.0:0.2021:0.0:0.7979	.	399	Q9H3S5	PIGM_HUMAN	F	399	ENSP00000357069:I399F	.	I	-	1	0	PIGM	158266959	0.986000	0.35501	0.931000	0.37212	0.540000	0.34992	1.829000	0.39121	0.857000	0.35407	0.379000	0.24179	ATC		0.403	PIGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060643.2	NM_145167		7	215	0	0	0	1	0	7	215				
TEX11	56159	broad.mit.edu	37	X	69849587	69849587	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:69849587T>A	ENST00000395889.2	-	19	1684		c.e19-2		TEX11_ENST00000374333.2_Splice_Site|TEX11_ENST00000374320.2_Splice_Site|TEX11_ENST00000344304.3_Splice_Site	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11						chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					CCTGCAAAGCTGAAAAACAAG	0.289																																						ENST00000395889.2																			0				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48						c.e19-2		testis expressed 11							53.0	49.0	50.0					X																	69849587		2203	4300	6503	SO:0001630	splice_region_variant	56159						protein binding	g.chrX:69849587T>A	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1529-2A>T	X.37:g.69849587T>A			Somatic				TEX11_ENST00000344304.3_Splice_Site|TEX11_ENST00000374320.2_Splice_Site|TEX11_ENST00000374333.2_Splice_Site		NM_001003811.1	NP_001003811.1	WXS	Illumina GAIIx	Phase_I	Q8IYF3	TEX11_HUMAN			19	1684	-	Renal(35;0.156)							A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Splice_Site	SNP	ENST00000395889.2	37		CCDS35323.1	.	.	.	.	.	.	.	.	.	.	T	9.598	1.127848	0.20959	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	.	.	.	3.77	2.56	0.30785	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6676	0.17704	0.2445:0.0:0.0:0.7555	.	.	.	.	.	-1	.	.	.	-	.	.	TEX11	69766312	1.000000	0.71417	0.814000	0.32528	0.032000	0.12392	3.547000	0.53663	0.453000	0.26858	-0.583000	0.04132	.		0.289	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1		Intron	3	27	0	0	0	1	0	3	27				
UBQLNL	143630	broad.mit.edu	37	11	5536862	5536862	+	Silent	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:5536862C>T	ENST00000380184.1	-	1	1073	c.810G>A	c.(808-810)ctG>ctA	p.L270L	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	270								p.L270L(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		AGTTCTGACCCAGGGCATTAT	0.463																																						ENST00000380184.1																			1	Substitution - coding silent(1)	p.L270L(1)	kidney(1)	endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(808-810)ctG>ctA		ubiquilin-like							90.0	84.0	86.0					11																	5536862		2201	4297	6498	SO:0001819	synonymous_variant	143630							g.chr11:5536862C>T	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.810G>A	11.37:g.5536862C>T			Somatic				HBG2_ENST00000380259.2_Intron	p.L270L	NM_145053.4	NP_659490.4	WXS	Illumina GAIIx	Phase_I	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	1073	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	270					Q6ZRU1|Q96EK3|Q96MB0	Silent	SNP	ENST00000380184.1	37	c.810G>A	CCDS31385.1																																																																																				0.463	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		11	185	0	0	0	1	0	11	185				
CCNA1	8900	broad.mit.edu	37	13	37015253	37015253	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr13:37015253A>T	ENST00000255465.4	+	7	1362		c.e7-1		CCNA1_ENST00000440264.1_Splice_Site|CCNA1_ENST00000418263.1_Splice_Site|CCNA1_ENST00000449823.1_Splice_Site			P78396	CCNA1_HUMAN	cyclin A1						G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TCTTGTGCTTAGTACGTAGCA	0.393																																						ENST00000418263.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35						c.e7-1		cyclin A1							126.0	105.0	112.0					13																	37015253		2203	4300	6503	SO:0001630	splice_region_variant	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37015253A>T	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.1099-1A>T	13.37:g.37015253A>T			Somatic				CCNA1_ENST00000440264.1_Splice_Site|CCNA1_ENST00000449823.1_Splice_Site|CCNA1_ENST00000255465.4_Splice_Site		NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	WXS	Illumina GAIIx	Phase_I	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	7	1445	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)						B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Splice_Site	SNP	ENST00000255465.4	37		CCDS9357.1	.	.	.	.	.	.	.	.	.	.	A	19.75	3.886322	0.72410	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3319	0.74219	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCNA1	35913253	1.000000	0.71417	0.988000	0.46212	0.833000	0.47200	8.941000	0.92964	2.076000	0.62316	0.460000	0.39030	.		0.393	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914	Intron	4	100	0	0	0	1	0	4	100				
UHRF2	115426	broad.mit.edu	37	9	6420910	6420910	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:6420910A>T	ENST00000276893.5	+	2	321		c.e2-1		UHRF2_ENST00000381373.3_Splice_Site|RP11-307L3.4_ENST00000411561.1_RNA	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase						cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		TTTATTTTCTAGTTGGAAAAT	0.343																																						ENST00000276893.5																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17						c.e2-1		ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase							57.0	58.0	58.0					9																	6420910		2203	4300	6503	SO:0001630	splice_region_variant	115426				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:6420910A>T	AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	12557	protein-coding gene	gene with protein product	"""Np95-like ring finger protein"""	615211	"""ubiquitin-like with PHD and ring finger domains 2"""			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.154-1A>T	9.37:g.6420910A>T			Somatic				UHRF2_ENST00000381373.3_Splice_Site|RP11-307L3.4_ENST00000411561.1_RNA		NM_152896.2	NP_690856.1	WXS	Illumina GAIIx	Phase_I	Q96PU4	UHRF2_HUMAN		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)	2	321	+		Acute lymphoblastic leukemia(23;0.158)						Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Splice_Site	SNP	ENST00000276893.5	37		CCDS6469.1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.173384	0.57584	.	.	ENSG00000147854	ENST00000276893;ENST00000381373	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3441	0.74320	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UHRF2	6410910	1.000000	0.71417	0.991000	0.47740	0.779000	0.44077	7.995000	0.88328	2.022000	0.59522	0.383000	0.25322	.		0.343	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051665.3	NM_152306	Intron	5	70	0	0	0	1	0	5	70				
MTMR3	8897	broad.mit.edu	37	22	30408355	30408355	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:30408355A>T	ENST00000401950.2	+	13	1463		c.e13-1		MTMR3_ENST00000351488.3_Splice_Site|MTMR3_ENST00000406629.1_Splice_Site|MTMR3_ENST00000323630.5_Splice_Site|MTMR3_ENST00000333027.3_Splice_Site|CTA-85E5.10_ENST00000429350.1_RNA	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3						peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CTGTTTTTATAGTTGGCTATC	0.388																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.e13-1		myotubularin related protein 3							90.0	92.0	91.0					22																	30408355		2203	4300	6503	SO:0001630	splice_region_variant	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30408355A>T	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.1122-1A>T	22.37:g.30408355A>T			Somatic				CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Splice_Site|MTMR3_ENST00000323630.5_Splice_Site|MTMR3_ENST00000401950.2_Splice_Site|MTMR3_ENST00000351488.3_Splice_Site		NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	WXS	Illumina GAIIx	Phase_I	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		13	1449	+								A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Splice_Site	SNP	ENST00000401950.2	37		CCDS13870.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.420933	0.83559	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4005	0.74838	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MTMR3	28738355	1.000000	0.71417	0.964000	0.40570	0.948000	0.59901	8.962000	0.93254	2.234000	0.73211	0.528000	0.53228	.		0.388	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090	Intron	7	249	0	0	0	1	0	7	249				
SUGCT	79783	broad.mit.edu	37	7	40277232	40277232	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:40277232A>T	ENST00000335693.4	+	7	528		c.e7-1		C7orf10_ENST00000309930.5_Splice_Site|C7orf10_ENST00000401647.2_Splice_Site	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN							metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TTGTTGTTTTAGGGTATGGTC	0.443																																						ENST00000309930.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						c.e7-1		chromosome 7 open reading frame 10							179.0	169.0	172.0					7																	40277232		1948	4142	6090	SO:0001630	splice_region_variant	79783						transferase activity	g.chr7:40277232A>T																												ENST00000335693.4:c.506-1A>T	7.37:g.40277232A>T			Somatic				C7orf10_ENST00000335693.4_Splice_Site|C7orf10_ENST00000401647.2_Splice_Site		NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	WXS	Illumina GAIIx	Phase_I	Q9HAC7	CG010_HUMAN			7	529	+								A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Splice_Site	SNP	ENST00000335693.4	37		CCDS55105.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.155321	0.78114	.	.	ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693;ENST00000416370	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2893	0.73854	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C7orf10	40243757	1.000000	0.71417	0.994000	0.49952	0.944000	0.59088	5.919000	0.70005	2.159000	0.67721	0.533000	0.62120	.		0.443	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1		Intron	4	165	0	0	0	1	0	4	165				
GPANK1	7918	broad.mit.edu	37	6	31632107	31632107	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:31632107T>C	ENST00000375906.1	-	3	833	c.149A>G	c.(148-150)gAt>gGt	p.D50G	CSNK2B_ENST00000375866.2_5'Flank|CSNK2B_ENST00000375885.4_5'Flank|GPANK1_ENST00000375895.2_Missense_Mutation_p.D50G|CSNK2B_ENST00000375865.2_5'Flank|GPANK1_ENST00000375900.4_Missense_Mutation_p.D50G|GPANK1_ENST00000375893.2_Missense_Mutation_p.D50G|CSNK2B_ENST00000375882.2_5'Flank|GPANK1_ENST00000375896.4_Missense_Mutation_p.D50G|Y_RNA_ENST00000364337.1_RNA|CSNK2B-LY6G5B-1181_ENST00000375880.2_5'Flank	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	50							nucleic acid binding (GO:0003676)	p.D50G(1)		central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						GCTGCTCTCATCCCCAATCAG	0.557																																						ENST00000375906.1																			1	Substitution - Missense(1)	p.D50G(1)	kidney(1)	central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						c.(148-150)gAt>gGt		G patch domain and ankyrin repeats 1							49.0	53.0	52.0					6																	31632107		2203	4300	6503	SO:0001583	missense	7918					intracellular	nucleic acid binding	g.chr6:31632107T>C		CCDS4711.1	6p21.3	2013-01-28	2010-11-24	2010-11-24	ENSG00000204438	ENSG00000204438		"""Ankyrin repeat domain containing"", ""G patch domain containing"""	13920	protein-coding gene	gene with protein product	"""G patch domain containing 10"", ""ankyrin repeat domain 59"""	142610	"""HLA-B associated transcript 4"""	BAT4		2911734, 2813433	Standard	NM_001199237		Approved	G5, D6S54E, GPATCH10, ANKRD59	uc021yuu.1	O95872	OTTHUMG00000031174	ENST00000375906.1:c.149A>G	6.37:g.31632107T>C	ENSP00000365071:p.Asp50Gly		Somatic				GPANK1_ENST00000375895.2_Missense_Mutation_p.D50G|GPANK1_ENST00000375896.4_Missense_Mutation_p.D50G|GPANK1_ENST00000375900.4_Missense_Mutation_p.D50G|GPANK1_ENST00000375893.2_Missense_Mutation_p.D50G	p.D50G	NM_001199237.1	NP_001186166.1	WXS	Illumina GAIIx	Phase_I	O95872	GPAN1_HUMAN			3	833	-			50					A6NG25|B0UXA2|Q5SQ49	Missense_Mutation	SNP	ENST00000375906.1	37	c.149A>G	CCDS4711.1	.	.	.	.	.	.	.	.	.	.	T	11.11	1.541956	0.27563	.	.	ENSG00000204438	ENST00000375906;ENST00000375896;ENST00000375893;ENST00000375895;ENST00000375900;ENST00000440842;ENST00000458083;ENST00000445768;ENST00000432291;ENST00000456540	T;T;T;T;T;T;T;T	0.53206	3.05;3.05;3.05;3.05;3.05;1.39;1.39;0.63	4.94	-2.59	0.06209	.	1.181720	0.05945	N	0.637746	T	0.12347	0.0300	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23583	-1.0184	10	0.34782	T	0.22	-0.8462	3.359	0.07179	0.1463:0.4892:0.1496:0.2149	.	50	O95872	GPAN1_HUMAN	G	50	ENSP00000365071:D50G;ENSP00000365060:D50G;ENSP00000365057:D50G;ENSP00000365059:D50G;ENSP00000365065:D50G;ENSP00000395307:D50G;ENSP00000409349:D50G;ENSP00000395484:D50G	ENSP00000365057:D50G	D	-	2	0	GPANK1	31740086	0.000000	0.05858	0.001000	0.08648	0.599000	0.36880	0.163000	0.16520	-0.046000	0.13446	-0.366000	0.07423	GAT		0.557	GPANK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144445.2	NM_033177		22	43	0	0	0	1	0	22	43				
RCOR2	283248	broad.mit.edu	37	11	63679957	63679957	+	Silent	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:63679957C>T	ENST00000301459.4	-	11	1464	c.1077G>A	c.(1075-1077)ggG>ggA	p.G359G	RCOR2_ENST00000473926.2_5'Flank	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	359	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.G359G(1)		kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						GAGTCTTGTTCCCAATCACCT	0.542																																						ENST00000301459.4																			1	Substitution - coding silent(1)	p.G359G(1)	kidney(1)	kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						c.(1075-1077)ggG>ggA		REST corepressor 2							73.0	86.0	81.0					11																	63679957		2200	4297	6497	SO:0001819	synonymous_variant	283248				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr11:63679957C>T	BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472	ENST00000301459.4:c.1077G>A	11.37:g.63679957C>T			Somatic					p.G359G	NM_173587.3	NP_775858.2	WXS	Illumina GAIIx	Phase_I	Q8IZ40	RCOR2_HUMAN			11	1464	-			359			SANT 2.		Q96FP3	Silent	SNP	ENST00000301459.4	37	c.1077G>A	CCDS8052.1																																																																																				0.542	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318233.1	NM_173587		4	79	0	0	0	1	0	4	79				
TCAP	8557	broad.mit.edu	37	17	37821618	37821618	+	Silent	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:37821618T>A	ENST00000309889.2	+	1	1179	c.6T>A	c.(4-6)gcT>gcA	p.A2A	TCAP_ENST00000578283.1_Silent_p.A2A|PNMT_ENST00000394246.1_5'Flank|PNMT_ENST00000269582.2_5'Flank			O15273	TELT_HUMAN	titin-cap	2					adult heart development (GO:0007512)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of mechanical stimulus (GO:0050982)|detection of muscle stretch (GO:0035995)|muscle filament sliding (GO:0030049)|otic vesicle formation (GO:0030916)|protein complex assembly (GO:0006461)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle contraction (GO:0003009)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)	cytosol (GO:0005829)|I band (GO:0031674)|Z disc (GO:0030018)	FATZ binding (GO:0051373)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.A2A(1)		kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGATCATGGCTACCTCAGAGC	0.602																																						ENST00000309889.2																			1	Substitution - coding silent(1)	p.A2A(1)	kidney(1)	kidney(1)|lung(1)	2						c.(4-6)gcT>gcA		titin-cap							97.0	100.0	99.0					17																	37821618		2203	4300	6503	SO:0001819	synonymous_variant	8557				adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	cytosol|Z disc	structural constituent of muscle|titin binding|titin Z domain binding	g.chr17:37821618T>A	AJ000491	CCDS11342.1	17q12	2014-09-17	2012-09-20		ENSG00000173991	ENSG00000173991			11610	protein-coding gene	gene with protein product	"""19 kDa sarcomeric protein"""	604488	"""limb girdle muscular dystrophy 2G (autosomal recessive)"", ""titin-cap (telethonin)"""	LGMD2G		9350988, 9817758	Standard	NM_003673		Approved	T-cap, TELE, telethonin, CMD1N	uc002hsh.3	O15273	OTTHUMG00000133215	ENST00000309889.2:c.6T>A	17.37:g.37821618T>A			Somatic				TCAP_ENST00000578283.1_Silent_p.A2A	p.A2A			WXS	Illumina GAIIx	Phase_I	O15273	TELT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		1	1179	+	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		2					Q96L27	Silent	SNP	ENST00000309889.2	37	c.6T>A	CCDS11342.1																																																																																				0.602	TCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256942.1	NM_003673		11	17	0	0	0	1	0	11	17				
APOB	338	broad.mit.edu	37	2	21231258	21231258	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:21231258C>G	ENST00000233242.1	-	26	8609	c.8482G>C	c.(8482-8484)Gtg>Ctg	p.V2828L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2828					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGAACTTCACTGACTCCTTC	0.413																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(8482-8484)Gtg>Ctg		apolipoprotein B	Atorvastatin(DB01076)						116.0	120.0	119.0					2																	21231258		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231258C>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8482G>C	2.37:g.21231258C>G	ENSP00000233242:p.Val2828Leu		Somatic					p.V2828L	NM_000384.2	NP_000375.2	WXS	Illumina GAIIx	Phase_I	P04114	APOB_HUMAN			26	8609	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2828					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.8482G>C	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.646619	0.00792	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00635	6.06	5.36	-10.7	0.00240	.	0.902182	0.09352	N	0.814029	T	0.00637	0.0021	L	0.56769	1.78	0.20196	N	0.999925	B	0.12630	0.006	B	0.12156	0.007	T	0.43032	-0.9416	10	0.13470	T	0.59	.	9.4118	0.38496	0.0659:0.2783:0.0697:0.5862	.	2828	P04114	APOB_HUMAN	L	2828	ENSP00000233242:V2828L	ENSP00000233242:V2828L	V	-	1	0	APOB	21084763	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.137000	0.00588	-2.387000	0.00589	-0.266000	0.10368	GTG		0.413	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			8	348	0	0	0	1	0	8	348				
BPIFC	254240	broad.mit.edu	37	22	32833840	32833840	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:32833840T>A	ENST00000397452.1	-	8	766		c.e8-2		BPIFC_ENST00000300399.3_Splice_Site|BPIFC_ENST00000432451.2_Splice_Site|BPIFC_ENST00000534972.1_Splice_Site			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C							extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										TGGTTAAAACTAAATAACCAA	0.303																																						ENST00000397452.1																			0											c.e8-2		BPI fold containing family C							62.0	60.0	61.0					22																	32833840		2203	4300	6503	SO:0001630	splice_region_variant	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32833840T>A	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.656-2A>T	22.37:g.32833840T>A			Somatic				BPIFC_ENST00000300399.3_Splice_Site|BPIFC_ENST00000534972.1_Splice_Site|BPIFC_ENST00000432451.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q8NFQ6	BPIL2_HUMAN			8	766	-								A2RRF1	Splice_Site	SNP	ENST00000397452.1	37		CCDS13906.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.868262	0.72065	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000432451	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5975	0.56478	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	BPIFC	31163840	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	4.171000	0.58236	2.289000	0.77006	0.533000	0.62120	.		0.303	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932	Intron	5	74	0	0	0	1	0	5	74				
FBXO7	25793	broad.mit.edu	37	22	32879882	32879882	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:32879882A>T	ENST00000266087.7	+	3	744		c.e3-1		FBXO7_ENST00000397426.1_Splice_Site|FBXO7_ENST00000382058.3_Splice_Site	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7						cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCCTTTTTCAGTTAGGGCCT	0.353																																						ENST00000266087.7																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.e3-1		F-box protein 7							64.0	65.0	64.0					22																	32879882		2203	4300	6503	SO:0001630	splice_region_variant	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32879882A>T	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.418-1A>T	22.37:g.32879882A>T			Somatic				FBXO7_ENST00000382058.3_Splice_Site|FBXO7_ENST00000397426.1_Splice_Site		NM_012179.3	NP_036311.3	WXS	Illumina GAIIx	Phase_I	Q9Y3I1	FBX7_HUMAN			3	744	+								B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Splice_Site	SNP	ENST00000266087.7	37		CCDS13907.1	.	.	.	.	.	.	.	.	.	.	A	19.58	3.854895	0.71719	.	.	ENSG00000100225	ENST00000266087;ENST00000452138;ENST00000382058;ENST00000397426;ENST00000444207	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5387	0.67979	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FBXO7	31209882	1.000000	0.71417	0.940000	0.37924	0.950000	0.60333	6.046000	0.71029	2.174000	0.68829	0.528000	0.53228	.		0.353	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1		Intron	4	105	0	0	0	1	0	4	105				
PGK1	5230	broad.mit.edu	37	X	77380396	77380396	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:77380396G>A	ENST00000373316.4	+	9	1129	c.962G>A	c.(961-963)aGc>aAc	p.S321N	PGK1_ENST00000442431.1_Missense_Mutation_p.S185N|PGK1_ENST00000537456.1_Missense_Mutation_p.S293N	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	321					carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)	p.S321N(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	CCTGAAAGCAGCAAGAAGTAT	0.502																																						ENST00000373316.4																			1	Substitution - Missense(1)	p.S321N(1)	kidney(1)	breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(961-963)aGc>aAc		phosphoglycerate kinase 1							124.0	121.0	122.0					X																	77380396		2203	4296	6499	SO:0001583	missense	5230				gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chrX:77380396G>A	L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.962G>A	X.37:g.77380396G>A	ENSP00000362413:p.Ser321Asn		Somatic				PGK1_ENST00000537456.1_Missense_Mutation_p.S293N|PGK1_ENST00000442431.1_Missense_Mutation_p.S185N	p.S321N	NM_000291.3	NP_000282.1	WXS	Illumina GAIIx	Phase_I	P00558	PGK1_HUMAN			9	1129	+			321					A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Missense_Mutation	SNP	ENST00000373316.4	37	c.962G>A	CCDS14438.1	.	.	.	.	.	.	.	.	.	.	G	7.592	0.670976	0.14776	.	.	ENSG00000102144	ENST00000373316;ENST00000442431;ENST00000450919;ENST00000537456	D;D;D	0.91945	-2.94;-2.94;-2.94	5.0	4.13	0.48395	Phosphoglycerate kinase, C-terminal (1);	0.319059	0.38164	N	0.001783	T	0.81498	0.4835	N	0.17594	0.5	0.24273	N	0.995231	B	0.02656	0.0	B	0.04013	0.001	T	0.64257	-0.6450	10	0.13470	T	0.59	-25.0944	6.4138	0.21705	0.0937:0.0:0.6195:0.2868	.	321	P00558	PGK1_HUMAN	N	321;185;146;293	ENSP00000362413:S321N;ENSP00000405452:S185N;ENSP00000444708:S293N	ENSP00000362413:S321N	S	+	2	0	PGK1	77267052	0.994000	0.37717	1.000000	0.80357	0.993000	0.82548	1.406000	0.34646	0.990000	0.38787	0.513000	0.50165	AGC		0.502	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057310.1			44	494	0	0	0	1	0	44	494				
TMEM132A	54972	broad.mit.edu	37	11	60701064	60701064	+	Silent	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:60701064C>A	ENST00000453848.2	+	8	1565	c.1407C>A	c.(1405-1407)ggC>ggA	p.G469G	TMEM132A_ENST00000005286.4_Silent_p.G470G			Q24JP5	T132A_HUMAN	transmembrane protein 132A	469						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.G470G(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						AGAGCCGGGGCGCCCGGGGGG	0.692																																						ENST00000005286.4																			2	Substitution - coding silent(2)	p.G470G(2)	kidney(2)	breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.(1408-1410)ggC>ggA		transmembrane protein 132A							17.0	25.0	22.0					11																	60701064		2194	4290	6484	SO:0001819	synonymous_variant	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60701064C>A	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.1407C>A	11.37:g.60701064C>A			Somatic				TMEM132A_ENST00000453848.2_Silent_p.G469G	p.G470G	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	WXS	Illumina GAIIx	Phase_I	Q24JP5	T132A_HUMAN			8	1563	+			469					Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Silent	SNP	ENST00000453848.2	37	c.1410C>A	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	C	0.374	-0.932586	0.02359	.	.	ENSG00000006118	ENST00000536409	.	.	.	4.75	-9.5	0.00584	.	.	.	.	.	T	0.31888	0.0811	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46062	-0.9218	4	.	.	.	.	0.4611	0.00516	0.3682:0.1886:0.149:0.2941	.	.	.	.	S	61	.	.	R	+	1	0	TMEM132A	60457640	0.000000	0.05858	0.010000	0.14722	0.058000	0.15608	-4.824000	0.00181	-3.555000	0.00142	-1.683000	0.00735	CGC		0.692	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		7	7	1	0	0.00448238	1	0.00455835	7	7				
GRIN3B	116444	broad.mit.edu	37	19	1004979	1004979	+	Silent	SNP	C	C	T	rs369027881		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:1004979C>T	ENST00000234389.3	+	3	1498	c.1479C>T	c.(1477-1479)ttC>ttT	p.F493F	AC004528.4_ENST00000588380.1_RNA|GRIN3B_ENST00000588335.1_3'UTR	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	493					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)	p.F493F(1)		breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACACGCCCTTCGACTTCGAGC	0.721																																						ENST00000234389.3																			1	Substitution - coding silent(1)	p.F493F(1)	kidney(1)	breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(1477-1479)ttC>ttT		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	C		0,4404		0,0,2202	27.0	28.0	28.0		1479	-1.0	1.0	19		28	1,8593		0,1,4296	no	coding-synonymous	GRIN3B	NM_138690.1		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		493/1044	1004979	1,12997	2202	4297	6499	SO:0001819	synonymous_variant	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1004979C>T		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1479C>T	19.37:g.1004979C>T			Somatic				GRIN3B_ENST00000588335.1_3'UTR	p.F493F	NM_138690.1	NP_619635.1	WXS	Illumina GAIIx	Phase_I	O60391	NMD3B_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)	3	1498	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	493					Q5EAK7|Q7RTW9	Silent	SNP	ENST00000234389.3	37	c.1479C>T	CCDS32861.1																																																																																				0.721	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			6	34	0	0	0	1	0	6	34				
GFPT2	9945	broad.mit.edu	37	5	179743456	179743456	+	Silent	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:179743456C>T	ENST00000253778.8	-	13	1327	c.1158G>A	c.(1156-1158)cgG>cgA	p.R386R	GFPT2_ENST00000520165.1_5'Flank	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	386	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CCAAAACTTGCCGCGTCTGAA	0.507																																						ENST00000253778.8																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(1156-1158)cgG>cgA		glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)						81.0	79.0	80.0					5																	179743456		2045	4213	6258	SO:0001819	synonymous_variant	9945				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr5:179743456C>T	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1158G>A	5.37:g.179743456C>T			Somatic					p.R386R	NM_005110.2	NP_005101.1	WXS	Illumina GAIIx	Phase_I	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1327	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	386			SIS 1.		Q53XM2|Q9BWS4	Silent	SNP	ENST00000253778.8	37	c.1158G>A	CCDS43411.1																																																																																				0.507	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110		4	185	0	0	0	1	0	4	185				
PCNT	5116	broad.mit.edu	37	21	47754463	47754463	+	Silent	SNP	A	A	G	rs527413251		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr21:47754463A>G	ENST00000359568.5	+	3	527	c.420A>G	c.(418-420)ccA>ccG	p.P140P	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	140					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.P140P(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACCACCCACCAGAACAGCGTG	0.542													a|||	1	0.000199681	0.0	0.0	5008	,	,		19704	0.0		0.0	False		,,,				2504	0.001					ENST00000359568.5																			1	Substitution - coding silent(1)	p.P140P(1)	lung(1)	NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(418-420)ccA>ccG		pericentrin							180.0	120.0	140.0					21																	47754463		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47754463A>G	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.420A>G	21.37:g.47754463A>G			Somatic				PCNT_ENST00000480896.1_3'UTR	p.P140P	NM_006031.5	NP_006022.3	WXS	Illumina GAIIx	Phase_I	O95613	PCNT_HUMAN			3	527	+	Breast(49;0.112)		140					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.420A>G	CCDS33592.1																																																																																				0.542	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		6	466	0	0	0	1	0	6	466				
PCDHGC3	5098	broad.mit.edu	37	5	140855726	140855726	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:140855726A>G	ENST00000308177.3	+	1	147	c.43A>G	c.(43-45)Agg>Ggg	p.R15G	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	15					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCACCGGGAGGGTAGTGGG	0.562																																						ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(43-45)Agg>Ggg									126.0	138.0	134.0					5																	140855726		2203	4300	6503	SO:0001583	missense	5098							g.chr5:140855726A>G	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.43A>G	5.37:g.140855726A>G	ENSP00000312070:p.Arg15Gly		Somatic				PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA12_ENST00000252085.3_Intron	p.R15G	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	147	+								O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	37	c.43A>G	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	A	12.34	1.907611	0.33721	.	.	ENSG00000240184	ENST00000308177	T	0.50001	0.76	6.17	5.03	0.67393	.	.	.	.	.	T	0.32823	0.0842	N	0.19112	0.55	0.23277	N	0.998	B;B	0.19200	0.006;0.034	B;B	0.24394	0.014;0.053	T	0.11665	-1.0578	9	0.49607	T	0.09	.	7.2013	0.25883	0.6505:0.2716:0.0779:0.0	.	15;15	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	G	15	ENSP00000312070:R15G	ENSP00000312070:R15G	R	+	1	2	PCDHGC3	140835910	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.918000	0.40006	2.371000	0.80710	0.533000	0.62120	AGG		0.562	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		4	323	0	0	0	1	0	4	323				
NPAS3	64067	broad.mit.edu	37	14	33836390	33836390	+	Splice_Site	SNP	A	A	T	rs202236525		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr14:33836390A>T	ENST00000356141.4	+	4	385		c.e4-1		NPAS3_ENST00000551492.1_Intron|NPAS3_ENST00000346562.2_Intron|NPAS3_ENST00000548645.1_Splice_Site|NPAS3_ENST00000341321.4_Splice_Site|NPAS3_ENST00000551008.1_Splice_Site|NPAS3_ENST00000357798.5_Splice_Site|NPAS3_ENST00000547068.1_Intron			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3						locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TTTTCTTTTAAGTTATAGGTG	0.368																																						ENST00000548645.1																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.e3-1		neuronal PAS domain protein 3							40.0	40.0	40.0					14																	33836390		2203	4300	6503	SO:0001630	splice_region_variant	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:33836390A>T	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.386-1A>T	14.37:g.33836390A>T			Somatic				NPAS3_ENST00000346562.2_Intron|NPAS3_ENST00000341321.4_Splice_Site|NPAS3_ENST00000357798.5_Splice_Site|NPAS3_ENST00000551008.1_Splice_Site|NPAS3_ENST00000356141.4_Splice_Site|NPAS3_ENST00000547068.1_Intron|NPAS3_ENST00000551492.1_Intron				WXS	Illumina GAIIx	Phase_I	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	3	340	+	Breast(36;0.0102)|Hepatocellular(127;0.133)							Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Splice_Site	SNP	ENST00000356141.4	37		CCDS53891.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.008521	0.75046	.	.	ENSG00000151322	ENST00000551634;ENST00000341321;ENST00000548645;ENST00000356141;ENST00000357798;ENST00000551008;ENST00000546849	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6625	0.77199	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NPAS3	32906141	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.499000	0.81566	2.107000	0.64212	0.533000	0.62120	.		0.368	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1		Intron	3	30	0	0	0	1	0	3	30				
TVP23C	201158	broad.mit.edu	37	17	15449215	15449215	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:15449215T>A	ENST00000225576.3	-	5	441	c.346A>T	c.(346-348)Aat>Tat	p.N116Y	TVP23C_ENST00000438826.3_Missense_Mutation_p.N116Y|TVP23C_ENST00000584811.1_Missense_Mutation_p.N52Y|TVP23C_ENST00000519970.1_Missense_Mutation_p.N30Y|TVP23C_ENST00000518321.1_Missense_Mutation_p.N116Y|TVP23C_ENST00000428082.2_Missense_Mutation_p.N116Y|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.N116Y	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	116						integral component of membrane (GO:0016021)		p.N116Y(2)									ACAGTTTTATTCTCTTGAGAG	0.323																																						ENST00000584811.1																			2	Substitution - Missense(2)	p.N116Y(2)	kidney(2)								c.(154-156)Aat>Tat		trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							101.0	100.0	101.0					17																	15449215		2203	4297	6500	SO:0001583	missense	201158							g.chr17:15449215T>A	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.346A>T	17.37:g.15449215T>A	ENSP00000225576:p.Asn116Tyr		Somatic				TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.N116Y|TVP23C_ENST00000225576.3_Missense_Mutation_p.N116Y|TVP23C_ENST00000428082.2_Missense_Mutation_p.N116Y|TVP23C_ENST00000519970.1_Missense_Mutation_p.N30Y|TVP23C_ENST00000438826.3_Missense_Mutation_p.N116Y|TVP23C_ENST00000518321.1_Missense_Mutation_p.N116Y	p.N52Y			WXS	Illumina GAIIx	Phase_I					5	1569	-								Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	c.154A>T	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	8.538	0.872660	0.17322	.	.	ENSG00000259024;ENSG00000259024;ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000557349;ENST00000481756;ENST00000519970;ENST00000225576;ENST00000428082;ENST00000438826;ENST00000419890	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	5.05	2.82	0.32997	.	0.657654	0.15767	N	0.245641	T	0.55194	0.1905	M	0.68317	2.08	0.09310	N	0.999999	B;P;B;P	0.51791	0.178;0.948;0.122;0.473	B;P;B;P	0.59595	0.091;0.86;0.096;0.532	T	0.44907	-0.9297	10	0.72032	D	0.01	.	8.7142	0.34401	0.0:0.1612:0.0:0.8388	.	116;30;116;116	Q96ET8-2;B4E0Q0;Q96ET8-3;Q96ET8	.;.;.;F18B2_HUMAN	Y	116;30;30;30;116;116;116;52	ENSP00000429865:N116Y;ENSP00000428961:N30Y;ENSP00000225576:N116Y;ENSP00000406387:N116Y;ENSP00000413355:N116Y;ENSP00000409988:N52Y	ENSP00000225576:N116Y	N	-	1	0	RP11-726O12.1;FAM18B2	15389940	0.427000	0.25514	0.003000	0.11579	0.227000	0.25037	2.274000	0.43390	0.348000	0.23949	0.528000	0.53228	AAT		0.323	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		14	53	0	0	0	1	0	14	53				
C1orf168	199920	broad.mit.edu	37	1	57258476	57258476	+	Splice_Site	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:57258476C>A	ENST00000343433.6	-	2	90	c.10G>T	c.(10-12)Gaa>Taa	p.E4*	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	4								p.E4*(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CTTACCCCTTCCTAAGGCAAA	0.353																																						ENST00000343433.6																			1	Substitution - Nonsense(1)	p.E4*(1)	kidney(1)	NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						c.e2-1		chromosome 1 open reading frame 168							86.0	92.0	90.0					1																	57258476		2202	4290	6492	SO:0001630	splice_region_variant	199920							g.chr1:57258476C>A	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.10-1G>T	1.37:g.57258476C>A			Somatic				C1orf168_ENST00000484327.1_5'UTR	p.E4_splice	NM_001004303.4	NP_001004303.3	WXS	Illumina GAIIx	Phase_I	Q5VWT5	CA168_HUMAN			2	90	-			4					Q63HM3|Q6ZUY6	Splice_Site	SNP	ENST00000343433.6	37	c.9_splice	CCDS30729.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400431	0.83120	.	.	ENSG00000187889	ENST00000343433	.	.	.	4.65	3.74	0.42951	.	0.099220	0.43416	D	0.000562	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-16.547	8.8314	0.35087	0.0:0.8977:0.0:0.1023	.	.	.	.	X	4	.	ENSP00000345972:E4X	E	-	1	0	C1orf168	57031064	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	2.133000	0.42093	1.318000	0.45170	-0.253000	0.11424	GAA		0.353	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303	Nonsense_Mutation	40	307	1	0	4.53413e-08	1	4.84071e-08	40	307				
WDR47	22911	broad.mit.edu	37	1	109554267	109554267	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:109554267T>C	ENST00000369962.3	-	5	623	c.401A>G	c.(400-402)tAt>tGt	p.Y134C	WDR47_ENST00000361054.3_Missense_Mutation_p.Y106C|WDR47_ENST00000369965.4_Missense_Mutation_p.Y134C|WDR47_ENST00000400794.3_Missense_Mutation_p.Y141C|WDR47_ENST00000357672.3_Missense_Mutation_p.Y106C			O94967	WDR47_HUMAN	WD repeat domain 47	134					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.Y134C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		GAGCTTACTATAGTCATCTTT	0.398																																						ENST00000357672.3																			1	Substitution - Missense(1)	p.Y134C(1)	kidney(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(316-318)tAt>tGt		WD repeat domain 47							131.0	131.0	131.0					1																	109554267		2203	4296	6499	SO:0001583	missense	22911							g.chr1:109554267T>C	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.401A>G	1.37:g.109554267T>C	ENSP00000358979:p.Tyr134Cys		Somatic				WDR47_ENST00000361054.3_Missense_Mutation_p.Y106C|WDR47_ENST00000400794.3_Missense_Mutation_p.Y141C|WDR47_ENST00000369962.3_Missense_Mutation_p.Y134C|WDR47_ENST00000369965.4_Missense_Mutation_p.Y134C	p.Y106C			WXS	Illumina GAIIx	Phase_I	O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	4	692	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	134					A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	c.317A>G	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	T	18.45	3.627740	0.66901	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672;ENST00000530772;ENST00000529074;ENST00000531337	T;T;T;T;T	0.76060	-0.81;-0.77;-0.99;-0.81;-0.99	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.81809	0.4901	M	0.69358	2.11	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.986;0.997;0.997	D	0.84745	0.0753	10	0.87932	D	0	-12.7322	15.3075	0.74004	0.0:0.0:0.0:1.0	.	106;141;134;134	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	C	141;134;106;134;106;134;61;34	ENSP00000383599:Y141C;ENSP00000358979:Y134C;ENSP00000354339:Y106C;ENSP00000358982:Y134C;ENSP00000350301:Y106C	ENSP00000350301:Y106C	Y	-	2	0	WDR47	109355790	1.000000	0.71417	0.978000	0.43139	0.975000	0.68041	7.673000	0.83973	2.008000	0.58898	0.460000	0.39030	TAT		0.398	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		17	213	0	0	0	1	0	17	213				
EVI2B	2124	broad.mit.edu	37	17	29632058	29632058	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:29632058A>T	ENST00000330927.4	-	2	724	c.570T>A	c.(568-570)agT>agA	p.S190R	NF1_ENST00000356175.3_Intron|EVI2B_ENST00000544462.1_Missense_Mutation_p.S205R|EVI2B_ENST00000577894.1_Missense_Mutation_p.S190R|NF1_ENST00000358273.4_Intron	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	190						integral component of plasma membrane (GO:0005887)		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TTTGTTTGTTACTGGTAGTAT	0.338																																						ENST00000330927.4																			11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(568-570)agT>agA		ecotropic viral integration site 2B							187.0	189.0	188.0					17																	29632058		2203	4300	6503	SO:0001583	missense	2124					cytoplasm|integral to plasma membrane		g.chr17:29632058A>T		CCDS11266.1	17q11.2	2011-08-11			ENSG00000185862	ENSG00000185862		"""CD molecules"""	3500	protein-coding gene	gene with protein product		158381				1903357	Standard	NM_006495		Approved	D17S376, EVDB, CD361	uc002hgk.2	P34910	OTTHUMG00000132869	ENST00000330927.4:c.570T>A	17.37:g.29632058A>T	ENSP00000333779:p.Ser190Arg		Somatic				NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000577894.1_Missense_Mutation_p.S190R|EVI2B_ENST00000544462.1_Missense_Mutation_p.S205R	p.S190R	NM_006495.3	NP_006486.3	WXS	Illumina GAIIx	Phase_I	P34910	EVI2B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)	2	724	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	190					B7Z4A7	Missense_Mutation	SNP	ENST00000330927.4	37	c.570T>A	CCDS11266.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.812507	0.32053	.	.	ENSG00000185862	ENST00000330927;ENST00000544462	T;T	0.48201	0.82;0.82	5.22	2.9	0.33743	.	0.667620	0.13484	N	0.384495	T	0.34890	0.0913	L	0.35723	1.085	0.09310	N	0.999999	B;B	0.20261	0.043;0.043	B;B	0.21546	0.035;0.035	T	0.23190	-1.0195	10	0.39692	T	0.17	-21.0591	5.9124	0.19035	0.7691:0.0:0.0845:0.1465	.	205;190	B7Z4A7;P34910	.;EVI2B_HUMAN	R	190;205	ENSP00000333779:S190R;ENSP00000439738:S205R	ENSP00000333779:S190R	S	-	3	2	EVI2B	26656184	0.000000	0.05858	0.013000	0.15412	0.158000	0.22134	-0.239000	0.08965	0.799000	0.34018	0.402000	0.26972	AGT		0.338	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256349.2	NM_006495		5	199	0	0	0	1	0	5	199				
DDX52	11056	broad.mit.edu	37	17	35986146	35986146	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:35986146T>A	ENST00000349699.2	-	8	976		c.e8-2		DDX52_ENST00000394367.3_Splice_Site	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52							membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				CACTCAACACTAAGAAATAAC	0.423																																						ENST00000349699.2																			0				biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17						c.e8-2		DEAD (Asp-Glu-Ala-Asp) box polypeptide 52							47.0	45.0	46.0					17																	35986146		2203	4300	6503	SO:0001630	splice_region_variant	11056					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr17:35986146T>A	AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"""DEAD-boxes"""	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475	ENST00000349699.2:c.933-2A>T	17.37:g.35986146T>A			Somatic				DDX52_ENST00000394367.3_Splice_Site		NM_007010.3	NP_008941.2	WXS	Illumina GAIIx	Phase_I	Q9Y2R4	DDX52_HUMAN			8	976	-		Breast(25;0.00637)|Ovarian(249;0.15)						Q86YG1|Q8N213|Q9NVE0|Q9Y482	Splice_Site	SNP	ENST00000349699.2	37		CCDS11323.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.227007	0.79576	.	.	ENSG00000141141	ENST00000349699;ENST00000394367	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.544	0.68015	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DDX52	33060259	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.474000	0.81024	2.028000	0.59812	0.377000	0.23210	.		0.423	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256795.1	NM_152300	Intron	4	37	0	0	0	1	0	4	37				
ASRGL1	80150	broad.mit.edu	37	11	62123795	62123795	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:62123795A>T	ENST00000415229.2	+	3	405		c.e3-1		ASRGL1_ENST00000535727.1_Intron|ASRGL1_ENST00000301776.5_Splice_Site	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1						asparagine catabolic process via L-aspartate (GO:0033345)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	asparaginase activity (GO:0004067)|beta-aspartyl-peptidase activity (GO:0008798)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	TTTTGGTTTTAGGTTGTGGGT	0.542																																						ENST00000415229.2																			0				endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7						c.e3-1		asparaginase like 1	L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)						189.0	177.0	181.0					11																	62123795		2202	4299	6501	SO:0001630	splice_region_variant	80150				asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr11:62123795A>T		CCDS8019.1	11q12.3	2008-07-18			ENSG00000162174	ENSG00000162174			16448	protein-coding gene	gene with protein product	"""asparaginase-like 1 protein"""	609212					Standard	NM_025080		Approved	FLJ22316, ALP1, ALP	uc001ntf.4	Q7L266	OTTHUMG00000167513	ENST00000415229.2:c.191-1A>T	11.37:g.62123795A>T			Somatic				ASRGL1_ENST00000535727.1_Intron|ASRGL1_ENST00000301776.5_Splice_Site		NM_001083926.1	NP_001077395.1	WXS	Illumina GAIIx	Phase_I	Q7L266	ASGL1_HUMAN			3	405	+								B2R7Q0|Q567Q4|Q6P1P0|Q8NI34|Q9H6F7	Splice_Site	SNP	ENST00000415229.2	37		CCDS8019.1	.	.	.	.	.	.	.	.	.	.	A	18.54	3.645954	0.67358	.	.	ENSG00000162174	ENST00000415229;ENST00000301776	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.108	0.65104	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ASRGL1	61880371	1.000000	0.71417	0.936000	0.37596	0.795000	0.44927	7.345000	0.79337	2.210000	0.71456	0.528000	0.53228	.		0.542	ASRGL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394865.1	NM_001083926	Intron	4	144	0	0	0	1	0	4	144				
CPB2	1361	broad.mit.edu	37	13	46632347	46632347	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr13:46632347A>T	ENST00000181383.4	-	9	982	c.966T>A	c.(964-966)taT>taA	p.Y322*	CPB2-AS1_ENST00000606991.1_RNA|CPB2_ENST00000439329.3_Nonsense_Mutation_p.Y285*|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	322					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		TACTTCGTGTATAGGAATATG	0.338																																						ENST00000181383.4																			0				NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(964-966)taT>taA		carboxypeptidase B2 (plasma)							181.0	171.0	175.0					13																	46632347		2203	4300	6503	SO:0001587	stop_gained	1361				blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr13:46632347A>T	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.966T>A	13.37:g.46632347A>T	ENSP00000181383:p.Tyr322*		Somatic				CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2_ENST00000439329.3_Nonsense_Mutation_p.Y285*|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606351.1_RNA	p.Y322*	NM_001872.3	NP_001863.3	WXS	Illumina GAIIx	Phase_I	Q96IY4	CBPB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)	9	982	-		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	322					A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Nonsense_Mutation	SNP	ENST00000181383.4	37	c.966T>A	CCDS9401.1	.	.	.	.	.	.	.	.	.	.	A	11.41	1.631208	0.28978	.	.	ENSG00000080618	ENST00000181383;ENST00000439329	.	.	.	5.86	-5.7	0.02421	.	0.048144	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.7748	0.85548	0.318:0.0:0.682:0.0	.	.	.	.	X	322;285	.	ENSP00000181383:Y322X	Y	-	3	2	CPB2	45530348	0.997000	0.39634	0.087000	0.20705	0.233000	0.25261	0.476000	0.22180	-0.840000	0.04206	-0.408000	0.06270	TAT		0.338	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872		5	233	0	0	0	1	0	5	233				
FAM221B	392307	broad.mit.edu	37	9	35825563	35825563	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:35825563A>T	ENST00000423537.2	-	2	865	c.596T>A	c.(595-597)cTa>cAa	p.L199Q	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	F221B_HUMAN	family with sequence similarity 221, member B	199										endometrium(2)|kidney(1)|lung(4)	7						CTTCTTGCCTAGTTGGTGTCC	0.502																																						ENST00000423537.2																			0				endometrium(2)|kidney(1)|lung(4)	7						c.(595-597)cTa>cAa		family with sequence similarity 221, member B							183.0	183.0	183.0					9																	35825563		2102	4219	6321	SO:0001583	missense	392307							g.chr9:35825563A>T	BX648702	CCDS43799.1, CCDS43799.2	9p13.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000204930	ENSG00000204930			30762	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 128"""	C9orf128			Standard	NM_001012446		Approved		uc010mlc.2	A6H8Z2	OTTHUMG00000019880	ENST00000423537.2:c.596T>A	9.37:g.35825563A>T	ENSP00000415299:p.Leu199Gln		Somatic				TMEM8B_ENST00000377996.1_Intron	p.L199Q	NM_001012446.3	NP_001012448.2	WXS	Illumina GAIIx	Phase_I	A6H8Z2	CI128_HUMAN			2	865	-			199					Q5TCW2	Missense_Mutation	SNP	ENST00000423537.2	37	c.596T>A	CCDS43799.2	.	.	.	.	.	.	.	.	.	.	a	13.00	2.105474	0.37145	.	.	ENSG00000204930	ENST00000423537;ENST00000377984	T;T	0.18502	2.47;2.21	4.85	-7.2	0.01495	.	1.494830	0.04390	N	0.362254	T	0.16599	0.0399	L	0.27053	0.805	0.09310	N	1	P	0.47677	0.899	P	0.51355	0.667	T	0.29397	-1.0013	10	0.26408	T	0.33	-0.408	10.4289	0.44395	0.2453:0.1358:0.6189:0.0	.	199	A6H8Z2	CI128_HUMAN	Q	199	ENSP00000415299:L199Q;ENSP00000367222:L199Q	ENSP00000367222:L199Q	L	-	2	0	C9orf128	35815563	0.000000	0.05858	0.000000	0.03702	0.709000	0.40893	-2.863000	0.00725	-1.122000	0.02945	-0.471000	0.05019	CTA		0.502	FAM221B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355861.1	NM_001012446		6	486	0	0	0	1	0	6	486				
NHLRC2	374354	broad.mit.edu	37	10	115663284	115663284	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:115663284A>T	ENST00000369301.3	+	9	1706		c.e9-1			NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		TTTCTTTTTTAGATTAAAGTT	0.313																																						ENST00000369301.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15						c.e9-1		NHL repeat containing 2							72.0	77.0	75.0					10																	115663284		2199	4295	6494	SO:0001630	splice_region_variant	374354				cell redox homeostasis			g.chr10:115663284A>T	AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.1495-1A>T	10.37:g.115663284A>T			Somatic						NM_198514.3	NP_940916.2	WXS	Illumina GAIIx	Phase_I	Q8NBF2	NHLC2_HUMAN		Epithelial(162;0.017)|all cancers(201;0.0187)	9	1706	+								Q8N1H1|Q8N5A6	Splice_Site	SNP	ENST00000369301.3	37		CCDS7585.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.017436	0.75161	.	.	ENSG00000196865	ENST00000369301	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.711	0.69232	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NHLRC2	115653274	1.000000	0.71417	0.996000	0.52242	0.797000	0.45037	8.914000	0.92735	2.264000	0.75181	0.528000	0.53228	.		0.313	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	NM_198514	Intron	4	65	0	0	0	1	0	4	65				
FSTL1	11167	broad.mit.edu	37	3	120122137	120122137	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:120122137G>A	ENST00000295633.3	-	8	1002	c.646C>T	c.(646-648)Caa>Taa	p.Q216*	FSTL1_ENST00000424703.2_Nonsense_Mutation_p.Q181*	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	216	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		AGAAACTCTTGGAAGCTGAGT	0.428																																						ENST00000295633.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20						c.(646-648)Caa>Taa		follistatin-like 1							107.0	108.0	108.0					3																	120122137		2203	4300	6503	SO:0001587	stop_gained	11167				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding	g.chr3:120122137G>A	U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"""EF-hand domain containing"""	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.646C>T	3.37:g.120122137G>A	ENSP00000295633:p.Gln216*		Somatic				FSTL1_ENST00000424703.2_Nonsense_Mutation_p.Q181*	p.Q216*	NM_007085.4	NP_009016.1	WXS	Illumina GAIIx	Phase_I	Q12841	FSTL1_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	8	1002	-			216			EF-hand 2.		A8K523|B4DTT5|D3DN90|Q549Z0	Nonsense_Mutation	SNP	ENST00000295633.3	37	c.646C>T	CCDS2998.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.084130|6.084130	0.97267|0.97267	.|.	.|.	ENSG00000163430|ENSG00000163430	ENST00000480823|ENST00000295633;ENST00000539471;ENST00000424703	.|.	.|.	.|.	6.16|6.16	5.24|5.24	0.73138|0.73138	.|.	.|0.295023	.|0.41396	.|D	.|0.000883	T|.	0.40297|.	0.1111|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.38373|.	-0.9664|.	3|.	.|0.09084	.|T	.|0.74	-19.8642|-19.8642	12.1478|12.1478	0.54034|0.54034	0.0:0.0:0.7603:0.2397|0.0:0.0:0.7603:0.2397	.|.	.|.	.|.	.|.	L|X	3|216;159;181	.|.	.|ENSP00000295633:Q216X	P|Q	-|-	2|1	0|0	FSTL1|FSTL1	121604827|121604827	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.176000|4.176000	0.58269|0.58269	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CCA|CAA		0.428	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355399.1	NM_007085		3	154	0	0	0	1	0	3	154				
CLIP1	6249	broad.mit.edu	37	12	122845616	122845616	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:122845616C>A	ENST00000540338.1	-	4	936	c.895G>T	c.(895-897)Gtg>Ttg	p.V299L	CLIP1_ENST00000537178.1_Missense_Mutation_p.V299L|CLIP1_ENST00000358808.2_Missense_Mutation_p.V299L|CLIP1_ENST00000361654.4_Missense_Mutation_p.V299L|CLIP1_ENST00000302528.7_Missense_Mutation_p.V299L|CLIP1_ENST00000545889.1_5'UTR			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	299					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GTCGCCATCACTCGCCTCACT	0.587																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(895-897)Gtg>Ttg		CAP-GLY domain containing linker protein 1							94.0	87.0	90.0					12																	122845616		2203	4300	6503	SO:0001583	missense	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122845616C>A		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.895G>T	12.37:g.122845616C>A	ENSP00000439093:p.Val299Leu		Somatic				CLIP1_ENST00000545889.1_5'UTR|CLIP1_ENST00000361654.4_Missense_Mutation_p.V299L|CLIP1_ENST00000302528.7_Missense_Mutation_p.V299L|CLIP1_ENST00000537178.1_Missense_Mutation_p.V299L|CLIP1_ENST00000540338.1_Missense_Mutation_p.V299L	p.V299L	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	WXS	Illumina GAIIx	Phase_I	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	5	1049	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		299					A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.895G>T	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	7.650	0.682720	0.14907	.	.	ENSG00000130779	ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304;ENST00000537004	T;T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78;-0.78	5.66	5.66	0.87406	Cytoskeleton-associated protein, Gly-rich domain (1);	0.193876	0.46145	D	0.000313	T	0.59335	0.2186	N	0.08118	0	0.37095	D	0.899611	B;B;B;B	0.19445	0.004;0.033;0.036;0.004	B;B;B;B	0.26864	0.016;0.074;0.062;0.018	T	0.58555	-0.7616	10	0.27082	T	0.32	-18.1481	17.9203	0.88964	0.0:1.0:0.0:0.0	.	299;299;299;299	F6VGP8;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	L	299;299;144;299;299;299;299	ENSP00000303585:V299L;ENSP00000351665:V299L;ENSP00000445531:V299L;ENSP00000439093:V299L;ENSP00000437786:V299L;ENSP00000441409:V299L	ENSP00000303585:V299L	V	-	1	0	CLIP1	121411569	0.979000	0.34478	0.998000	0.56505	0.555000	0.35460	2.484000	0.45242	2.665000	0.90641	0.561000	0.74099	GTG		0.587	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		11	91	1	0	0.000566183	1	0.000585707	11	91				
OR52N2	390077	broad.mit.edu	37	11	5841740	5841740	+	Silent	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:5841740C>A	ENST00000317037.2	+	1	197	c.175C>A	c.(175-177)Cgg>Agg	p.R59R	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H53_F64del(1)|p.R59G(1)|p.R59R(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCCTGCACCGGCCCATGTA	0.522																																						ENST00000317037.2																			3	Substitution - Missense(1)|Substitution - coding silent(1)|Deletion - In frame(1)	p.H53_F64del(1)|p.R59G(1)|p.R59R(1)	ovary(1)|lung(1)|kidney(1)	autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32						c.(175-177)Cgg>Agg		olfactory receptor, family 52, subfamily N, member 2							138.0	119.0	125.0					11																	5841740		2201	4296	6497	SO:0001819	synonymous_variant	390077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5841740C>A	AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988		"""GPCR / Class A : Olfactory receptors"""	15228	protein-coding gene	gene with protein product							Standard	NM_001005174		Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.175C>A	11.37:g.5841740C>A			Somatic				TRIM5_ENST00000380027.1_Intron	p.R59R	NM_001005174.1	NP_001005174.1	WXS	Illumina GAIIx	Phase_I	Q8NGI0	O52N2_HUMAN		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	197	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	59					Q6IFF9	Silent	SNP	ENST00000317037.2	37	c.175C>A	CCDS31399.1																																																																																				0.522	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401143.1	NM_001005174		136	225	1	0	1.08273e-52	1	1.22113e-52	136	225				
KRT76	51350	broad.mit.edu	37	12	53170786	53170786	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr12:53170786C>A	ENST00000332411.2	-	1	343	c.290G>T	c.(289-291)gGc>gTc	p.G97V		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	97	Head.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						gcccccaaagccacctccata	0.617																																						ENST00000332411.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(289-291)gGc>gTc		keratin 76							213.0	243.0	233.0					12																	53170786		2203	4300	6503	SO:0001583	missense	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53170786C>A	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.290G>T	12.37:g.53170786C>A	ENSP00000330101:p.Gly97Val		Somatic					p.G97V	NM_015848.4	NP_056932.2	WXS	Illumina GAIIx	Phase_I	Q01546	K22O_HUMAN			1	343	-			97			Head.		B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	c.290G>T	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	c	12.48	1.951886	0.34471	.	.	ENSG00000185069	ENST00000332411	D	0.88741	-2.42	4.61	4.61	0.57282	.	0.000000	0.47455	D	0.000233	D	0.93439	0.7907	M	0.88906	2.99	0.80722	D	1	D	0.59767	0.986	P	0.56343	0.796	D	0.93590	0.6920	10	0.56958	D	0.05	.	13.1201	0.59321	0.0:0.9214:0.0:0.0786	.	97	Q01546	K22O_HUMAN	V	97	ENSP00000330101:G97V	ENSP00000330101:G97V	G	-	2	0	KRT76	51457053	0.004000	0.15560	1.000000	0.80357	0.294000	0.27393	1.484000	0.35508	2.844000	0.97970	0.650000	0.86243	GGC		0.617	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		5	95	1	0	1	1	1	5	95				
OR10X1	128367	broad.mit.edu	37	1	158549066	158549066	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:158549066A>T	ENST00000368150.1	-	1	623	c.624T>A	c.(622-624)agT>agA	p.S208R		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CTGTGTGGTTACTGTCTATAC	0.433																																						ENST00000368150.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(622-624)agT>agA		olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)							92.0	92.0	92.0					1																	158549066		2203	4300	6503	SO:0001583	missense	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158549066A>T	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.624T>A	1.37:g.158549066A>T	ENSP00000357132:p.Ser208Arg		Somatic					p.S208R	NM_001004477.1	NP_001004477.1	WXS	Illumina GAIIx	Phase_I	Q8NGY0	O10X1_HUMAN			1	623	-	all_hematologic(112;0.0378)		208					Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	c.624T>A	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	A	4.923	0.171414	0.09391	.	.	ENSG00000186400	ENST00000368150	T	0.00183	8.6	4.8	-1.88	0.07713	GPCR, rhodopsin-like superfamily (1);	0.106927	0.42294	D	0.000733	T	0.00039	0.0001	N	0.16201	0.385	0.09310	N	1	B	0.16166	0.016	B	0.17098	0.017	T	0.39461	-0.9613	10	0.66056	D	0.02	.	11.0649	0.47970	0.4975:0.0:0.5025:0.0	.	208	Q8NGY0	O10X1_HUMAN	R	208	ENSP00000357132:S208R	ENSP00000357132:S208R	S	-	3	2	OR10X1	156815690	0.000000	0.05858	0.276000	0.24689	0.005000	0.04900	-0.785000	0.04628	-0.224000	0.09928	-0.385000	0.06624	AGT		0.433	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		5	110	0	0	0	1	0	5	110				
RNF31	55072	broad.mit.edu	37	14	24629158	24629158	+	Silent	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr14:24629158C>T	ENST00000324103.6	+	19	3305	c.2985C>T	c.(2983-2985)gcC>gcT	p.A995A	RNF31_ENST00000382687.3_Silent_p.A844A|IRF9_ENST00000557894.1_5'Flank|RP11-468E2.4_ENST00000558468.1_Silent_p.A470A|RNF31_ENST00000559275.1_Silent_p.A844A|RNA5SP383_ENST00000362934.1_RNA|IRF9_ENST00000396864.3_5'Flank	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	995	LDD domain.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CTGGCTATGCCGGCCTGTGCC	0.592																																						ENST00000558468.1																			0											c.(1408-1410)gcC>gcT									90.0	95.0	94.0					14																	24629158		2042	4197	6239	SO:0001819	synonymous_variant	10379							g.chr14:24629158C>T	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.2985C>T	14.37:g.24629158C>T			Somatic				RNF31_ENST00000382687.3_Silent_p.A844A|RNF31_ENST00000559275.1_Silent_p.A844A|RNF31_ENST00000324103.6_Silent_p.A995A	p.A470A			WXS	Illumina GAIIx	Phase_I					11	1410	+								A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Silent	SNP	ENST00000324103.6	37	c.1410C>T	CCDS41931.1																																																																																				0.592	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		4	348	0	0	0	1	0	4	348				
LARP4	113251	broad.mit.edu	37	12	50869645	50869645	+	Nonstop_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr12:50869645T>A	ENST00000398473.2	+	16	2285	c.2173T>A	c.(2173-2175)Taa>Aaa	p.*725K	LARP4_ENST00000429001.3_Nonstop_Mutation_p.*731K|LARP4_ENST00000347328.5_Nonstop_Mutation_p.*654K|LARP4_ENST00000518444.1_Nonstop_Mutation_p.*724K|LARP4_ENST00000293618.8_Nonstop_Mutation_p.*654K	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	0					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ATCACCAAAGTAAAAAACAAC	0.448																																						ENST00000398473.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						c.(2173-2175)Taa>Aaa		La ribonucleoprotein domain family, member 4							42.0	43.0	42.0					12																	50869645		1874	4108	5982	SO:0001578	stop_lost	113251						nucleotide binding|RNA binding	g.chr12:50869645T>A	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.2173T>A	12.37:g.50869645T>A	ENSP00000381490:p.*725Lysext*81		Somatic				LARP4_ENST00000293618.8_Nonstop_Mutation_p.*654K|LARP4_ENST00000347328.5_Nonstop_Mutation_p.*654K|LARP4_ENST00000429001.3_Nonstop_Mutation_p.*731K|LARP4_ENST00000518444.1_Nonstop_Mutation_p.*724K	p.*725K	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	WXS	Illumina GAIIx	Phase_I	Q71RC2	LARP4_HUMAN			16	2285	+			0					A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Nonstop_Mutation	SNP	ENST00000398473.2	37	c.2173T>A	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.942821	0.53079	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000518444;ENST00000520064;ENST00000347328	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.337	0.55073	0.0:0.0:0.141:0.859	.	.	.	.	K	654;731;725;724;606;654	.	.	X	+	1	0	LARP4	49155912	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	3.694000	0.54742	2.202000	0.70862	0.523000	0.50628	TAA		0.448	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		9	41	0	0	0	1	0	9	41				
ITGAV	3685	broad.mit.edu	37	2	187506111	187506111	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:187506111A>T	ENST00000261023.3	+	12	1230		c.e12-1		AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Splice_Site|ITGAV_ENST00000433736.2_Splice_Site	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V						angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	CTGTTCTTCTAGTTATGCAGA	0.433																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.e12-1		integrin, alpha V							102.0	91.0	95.0					2																	187506111		2203	4300	6503	SO:0001630	splice_region_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187506111A>T		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.957-1A>T	2.37:g.187506111A>T			Somatic				ITGAV_ENST00000433736.2_Splice_Site|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Splice_Site		NM_002210.3	NP_002201.1	WXS	Illumina GAIIx	Phase_I	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	12	1230	+								A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Splice_Site	SNP	ENST00000261023.3	37		CCDS2292.1	.	.	.	.	.	.	.	.	.	.	A	17.84	3.488166	0.64074	.	.	ENSG00000138448	ENST00000544640;ENST00000261023;ENST00000374907;ENST00000433736	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9822	0.80121	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITGAV	187214356	1.000000	0.71417	0.925000	0.36789	0.712000	0.41017	5.502000	0.66956	2.186000	0.69663	0.533000	0.62120	.		0.433	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210	Intron	6	151	0	0	0	1	0	6	151				
DDX42	11325	broad.mit.edu	37	17	61897195	61897195	+	IGR	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr17:61897195A>T	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Silent_p.R837R	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TTTGTTCCTTACGTTGCTGTG	0.537																																						ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(2509-2511)cgT>cgA		FtsJ homolog 3 (E. coli)							301.0	257.0	272.0					17																	61897195		2203	4300	6503	SO:0001628	intergenic_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61897195A>T	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61897195A>T			Somatic					p.R837R	NM_017647.3	NP_060117.3	WXS	Illumina GAIIx	Phase_I	Q8IY81	RRMJ3_HUMAN			21	3156	-			837					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Silent	SNP	ENST00000578681.1	37	c.2511T>A	CCDS32704.1																																																																																				0.537	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		30	881	0	0	0	1	0	30	881				
PDHA2	5161	broad.mit.edu	37	4	96761615	96761615	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr4:96761615G>A	ENST00000295266.4	+	1	377	c.314G>A	c.(313-315)gGc>gAc	p.G105D		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	105					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		CTTGAGGCCGGCATAAACCCC	0.517																																						ENST00000295266.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(313-315)gGc>gAc		pyruvate dehydrogenase (lipoamide) alpha 2	NADH(DB00157)						129.0	113.0	119.0					4																	96761615		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761615G>A		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.314G>A	4.37:g.96761615G>A	ENSP00000295266:p.Gly105Asp		Somatic					p.G105D	NM_005390.4	NP_005381.1	WXS	Illumina GAIIx	Phase_I	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	377	+		Hepatocellular(203;0.114)	105					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.314G>A	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.439043	0.25900	.	.	ENSG00000163114	ENST00000295266	D	0.97114	-4.25	4.91	4.05	0.47172	Dehydrogenase, E1 component (1);	0.263878	0.35179	N	0.003394	D	0.97408	0.9152	L	0.56124	1.755	0.21220	N	0.999757	D	0.61697	0.99	D	0.69824	0.966	D	0.92952	0.6381	10	0.87932	D	0	-17.1313	11.773	0.51970	0.0:0.3428:0.6572:0.0	.	105	P29803	ODPAT_HUMAN	D	105	ENSP00000295266:G105D	ENSP00000295266:G105D	G	+	2	0	PDHA2	96980638	1.000000	0.71417	0.093000	0.20910	0.022000	0.10575	3.757000	0.55212	1.408000	0.46895	0.467000	0.42956	GGC		0.517	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			4	310	0	0	0	1	0	4	310				
OR13A1	79290	broad.mit.edu	37	10	45799343	45799343	+	Silent	SNP	G	G	T	rs369918481		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr10:45799343G>T	ENST00000553795.1	-	4	836	c.528C>A	c.(526-528)atC>atA	p.I176I	OR13A1_ENST00000374401.2_Silent_p.I176I|OR13A1_ENST00000536058.1_Silent_p.I176I	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						GCCCCGTGTGGATGGCCGTGT	0.602																																						ENST00000553795.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						c.(526-528)atC>atA		olfactory receptor, family 13, subfamily A, member 1		G		0,4402		0,0,2201	41.0	43.0	42.0		528	-8.7	0.0	10		42	2,8592		0,2,4295	no	coding-synonymous	OR13A1	NM_001004297.2		0,2,6496	TT,TG,GG		0.0233,0.0,0.0154		176/329	45799343	2,12994	2201	4297	6498	SO:0001819	synonymous_variant	79290				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr10:45799343G>T	AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"""GPCR / Class A : Olfactory receptors"""	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.528C>A	10.37:g.45799343G>T			Somatic				OR13A1_ENST00000374401.2_Silent_p.I176I|OR13A1_ENST00000536058.1_Silent_p.I176I	p.I176I	NM_001004297.2	NP_001004297.2	WXS	Illumina GAIIx	Phase_I	Q8NGR1	O13A1_HUMAN			4	836	-			176					Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Silent	SNP	ENST00000553795.1	37	c.528C>A	CCDS31188.1																																																																																				0.602	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	NM_001004297		6	96	1	0	3.09899e-07	1	3.33845e-07	6	96				
ZNF564	163050	broad.mit.edu	37	19	12637723	12637723	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr19:12637723C>T	ENST00000339282.7	-	4	1395	c.1199G>A	c.(1198-1200)aGa>aAa	p.R400K	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.21_ENST00000601420.1_RNA|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	400					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(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GTCAAAGGCTCTACCACATAC	0.433																																						ENST00000339282.7																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(1198-1200)aGa>aAa		zinc finger protein 564							140.0	144.0	143.0					19																	12637723		2203	4300	6503	SO:0001583	missense	163050							g.chr19:12637723C>T	BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"""Zinc fingers, C2H2-type"", ""-"""	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.1199G>A	19.37:g.12637723C>T	ENSP00000340004:p.Arg400Lys		Somatic				ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	p.R400K	NM_144976.3	NP_659413.1	WXS	Illumina GAIIx	Phase_I					4	1395	-								B9EGT4|Q6P1K6	Missense_Mutation	SNP	ENST00000339282.7	37	c.1199G>A	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	C	7.051	0.564517	0.13498	.	.	ENSG00000249709	ENST00000339282	T	0.07114	3.22	1.56	0.263	0.15602	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01661	0.0053	N	0.00605	-1.335	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.46414	-0.9193	9	0.02654	T	1	.	5.0091	0.14302	0.0:0.2327:0.0:0.7673	.	400	Q8TBZ8	ZN564_HUMAN	K	400	ENSP00000340004:R400K	ENSP00000340004:R400K	R	-	2	0	ZNF564	12498723	0.565000	0.26610	0.010000	0.14722	0.890000	0.51754	0.515000	0.22801	0.050000	0.15949	0.643000	0.83706	AGA		0.433	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976		5	356	0	0	0	1	0	5	356				
FGFR1	2260	broad.mit.edu	37	8	38272312	38272312	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr8:38272312A>T	ENST00000447712.2	-	14	2903	c.1962T>A	c.(1960-1962)taT>taA	p.Y654*	FGFR1_ENST00000356207.5_Nonsense_Mutation_p.Y565*|FGFR1_ENST00000341462.5_Nonsense_Mutation_p.Y654*|FGFR1_ENST00000335922.5_Nonsense_Mutation_p.Y644*|FGFR1_ENST00000397113.2_Nonsense_Mutation_p.Y652*|FGFR1_ENST00000397103.1_Nonsense_Mutation_p.Y565*|FGFR1_ENST00000532791.1_Nonsense_Mutation_p.Y652*|FGFR1_ENST00000397108.4_Nonsense_Mutation_p.Y652*|FGFR1_ENST00000425967.3_Nonsense_Mutation_p.Y685*|FGFR1_ENST00000326324.6_Nonsense_Mutation_p.Y563*|FGFR1_ENST00000397091.5_Nonsense_Mutation_p.Y652*	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	654	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TTGTCTTTTTATAGTAGTCGA	0.557		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)	ENST00000447712.2		1		Dom	yes		8	8p11.2-p11.1	2260	T	fibroblast growth factor receptor 1	yes	"""Pfeiffer syndrome, Kallman syndrome"""	L	"""BCR, FOP, ZNF198, CEP1"""		"""MPD, NHL"""	FGFR1/ZNF703(2)	0				breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50						c.(1960-1962)taT>taA		fibroblast growth factor receptor 1	Palifermin(DB00039)						125.0	130.0	129.0					8																	38272312		2097	4256	6353	SO:0001587	stop_gained	2260				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	g.chr8:38272312A>T	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.1962T>A	8.37:g.38272312A>T	ENSP00000400162:p.Tyr654*		Somatic				FGFR1_ENST00000326324.6_Nonsense_Mutation_p.Y563*|FGFR1_ENST00000335922.5_Nonsense_Mutation_p.Y644*|FGFR1_ENST00000532791.1_Nonsense_Mutation_p.Y652*|FGFR1_ENST00000356207.5_Nonsense_Mutation_p.Y565*|FGFR1_ENST00000425967.3_Nonsense_Mutation_p.Y685*|FGFR1_ENST00000397091.5_Nonsense_Mutation_p.Y652*|FGFR1_ENST00000397103.1_Nonsense_Mutation_p.Y565*|FGFR1_ENST00000397108.4_Nonsense_Mutation_p.Y652*|FGFR1_ENST00000397113.2_Nonsense_Mutation_p.Y652*|FGFR1_ENST00000341462.5_Nonsense_Mutation_p.Y654*	p.Y654*	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	WXS	Illumina GAIIx	Phase_I	P11362	FGFR1_HUMAN	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		14	2903	-	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	654			Protein kinase.		A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Nonsense_Mutation	SNP	ENST00000447712.2	37	c.1962T>A	CCDS6107.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	43|43	9.975289|9.975289	0.99308|0.99308	.|.	.|.	ENSG00000077782|ENSG00000077782	ENST00000310729|ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108	.|.	.|.	.|.	5.9|5.9	-4.29|-4.29	0.03721|0.03721	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	17.5108|17.5108	0.87759|0.87759	0.1875:0.0:0.8125:0.0|0.1875:0.0:0.8125:0.0	.|.	.|.	.|.	.|.	K|X	663|652;685;654;654;652;652;565;644;563;565;652	.|.	.|.	X|Y	-|-	1|3	0|2	FGFR1|FGFR1	38391469|38391469	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.862000|0.862000	0.49288|0.49288	1.521000|1.521000	0.35910|0.35910	-0.674000|-0.674000	0.05253|0.05253	0.482000|0.482000	0.46254|0.46254	TAA|TAT		0.557	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				8	405	0	0	0	1	0	8	405				
PCDHB12	56124	broad.mit.edu	37	5	140589746	140589746	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr5:140589746G>T	ENST00000239450.2	+	1	1456	c.1267G>T	c.(1267-1269)Gtc>Ttc	p.V423F	PCDHB12_ENST00000541609.1_Missense_Mutation_p.V86F	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	423	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCATCACCGTCACCGACTT	0.517																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1267-1269)Gtc>Ttc									97.0	94.0	95.0					5																	140589746		2203	4300	6503	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140589746G>T	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1267G>T	5.37:g.140589746G>T	ENSP00000239450:p.Val423Phe		Somatic				PCDHB12_ENST00000541609.1_Missense_Mutation_p.V86F	p.V423F	NM_018932.3	NP_061755.1	WXS	Illumina GAIIx	Phase_I	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1456	+			423			Cadherin 4.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1267G>T	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.411081	0.42817	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.48201	0.82;0.82	3.83	3.83	0.44106	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.79423	0.4443	H	0.98901	4.365	0.22571	N	0.998972	D	0.59767	0.986	D	0.68943	0.961	T	0.72865	-0.4163	9	0.87932	D	0	.	11.0962	0.48145	0.0:0.0:0.8144:0.1856	.	423	Q9Y5F1	PCDBC_HUMAN	F	86;423;43	ENSP00000440199:V86F;ENSP00000239450:V423F	ENSP00000239450:V423F	V	+	1	0	PCDHB12	140569930	0.995000	0.38212	0.031000	0.17742	0.352000	0.29268	4.822000	0.62686	1.859000	0.53934	0.485000	0.47835	GTC		0.517	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		32	190	1	0	2.52449e-32	1	2.87646e-32	32	190				
TTC22	55001	broad.mit.edu	37	1	55251692	55251692	+	Silent	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:55251692T>C	ENST00000371276.4	-	5	1087	c.984A>G	c.(982-984)ccA>ccG	p.P328P	TTC22_ENST00000371274.4_Silent_p.P328P	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	328								p.P328P(2)		kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						AGTTGAGTTCTGGATCTCGTA	0.552																																						ENST00000371276.4																			2	Substitution - coding silent(2)	p.P328P(2)	kidney(2)	kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						c.(982-984)ccA>ccG		tetratricopeptide repeat domain 22							77.0	71.0	73.0					1																	55251692		2203	4300	6503	SO:0001819	synonymous_variant	55001						binding	g.chr1:55251692T>C	AK000626	CCDS598.1, CCDS44152.1	1p32.3	2013-01-11			ENSG00000006555	ENSG00000006555		"""Tetratricopeptide (TTC) repeat domain containing"""	26067	protein-coding gene	gene with protein product							Standard	NM_017904		Approved	FLJ20619	uc009vzt.1	Q5TAA0	OTTHUMG00000009916	ENST00000371276.4:c.984A>G	1.37:g.55251692T>C			Somatic				TTC22_ENST00000371274.4_Silent_p.P328P	p.P328P	NM_001114108.1	NP_001107580.1	WXS	Illumina GAIIx	Phase_I	Q5TAA0	TTC22_HUMAN			5	1087	-			328					Q9NWT4	Silent	SNP	ENST00000371276.4	37	c.984A>G	CCDS44152.1																																																																																				0.552	TTC22-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027438.1	NM_017904		24	72	0	0	0	1	0	24	72				
CDK14	5218	broad.mit.edu	37	7	90547013	90547013	+	Missense_Mutation	SNP	C	C	A	rs376270298		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr7:90547013C>A	ENST00000380050.3	+	8	931	c.800C>A	c.(799-801)aCg>aAg	p.T267K	CDK14_ENST00000436577.2_Missense_Mutation_p.T138K|CDK14_ENST00000406263.1_Missense_Mutation_p.T221K|CDK14_ENST00000265741.3_Missense_Mutation_p.T249K			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	267	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						ATCAGTGACACGGGGGAGTTA	0.448																																					GBM(83;1228 1256 8311 16577 31299)	ENST00000406263.1																			0				breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						c.(661-663)aCg>aAg		cyclin-dependent kinase 14							122.0	120.0	121.0					7																	90547013		2203	4300	6503	SO:0001583	missense	5218				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:90547013C>A		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.800C>A	7.37:g.90547013C>A	ENSP00000369390:p.Thr267Lys		Somatic				CDK14_ENST00000436577.2_Missense_Mutation_p.T138K|CDK14_ENST00000380050.3_Missense_Mutation_p.T267K|CDK14_ENST00000265741.3_Missense_Mutation_p.T249K	p.T221K			WXS	Illumina GAIIx	Phase_I	O94921	CDK14_HUMAN			7	1104	+			267			Protein kinase.		A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Missense_Mutation	SNP	ENST00000380050.3	37	c.662C>A		.	.	.	.	.	.	.	.	.	.	C	9.730	1.162017	0.21538	.	.	ENSG00000058091	ENST00000380050;ENST00000265741;ENST00000406263;ENST00000436577	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.51	4.62	0.57501	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.114864	0.56097	D	0.000029	T	0.16214	0.0390	N	0.02345	-0.59	0.45594	D	0.998535	B;P;B	0.42123	0.028;0.771;0.028	B;B;B	0.38842	0.068;0.283;0.068	T	0.26467	-1.0102	10	0.02654	T	1	-10.886	13.7233	0.62743	0.0:0.926:0.0:0.074	.	138;249;267	E7EUK8;O94921-2;O94921	.;.;CDK14_HUMAN	K	267;249;221;138	ENSP00000369390:T267K;ENSP00000265741:T249K;ENSP00000385034:T221K;ENSP00000398936:T138K	ENSP00000265741:T249K	T	+	2	0	CDK14	90384949	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.889000	0.39718	2.592000	0.87571	0.591000	0.81541	ACG		0.448	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	NM_012395		4	253	1	0	1.23904e-05	1	1.31683e-05	4	253				
CELA2A	63036	broad.mit.edu	37	1	15798500	15798500	+	Nonstop_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:15798500T>A	ENST00000359621.4	+	8	833	c.808T>A	c.(808-810)Taa>Aaa	p.*270K	CELA2B_ENST00000494280.1_Intron	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	0						extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						TGCAAATAACTAACCAAAAGA	0.433																																						ENST00000359621.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						c.(808-810)Taa>Aaa		chymotrypsin-like elastase family, member 2A							146.0	136.0	140.0					1																	15798500		2203	4300	6503	SO:0001578	stop_lost	63036				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15798500T>A		CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"""elastase 2A"""	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.808T>A	1.37:g.15798500T>A	ENSP00000352639:p.*270Lysext*23		Somatic				CELA2B_ENST00000494280.1_Intron	p.*270K	NM_033440.2	NP_254275.1	WXS	Illumina GAIIx	Phase_I	P08217	CEL2A_HUMAN			8	833	+			0					B2R5I4|Q14243	Nonstop_Mutation	SNP	ENST00000359621.4	37	c.808T>A	CCDS157.1	.	.	.	.	.	.	.	.	.	.	T	8.163	0.789995	0.16258	.	.	ENSG00000142615	ENST00000359621	.	.	.	2.78	2.78	0.32641	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3187	0.26515	0.0:0.0:0.0:1.0	.	.	.	.	K	270	.	.	X	+	1	0	CELA2A	15671087	1.000000	0.71417	0.892000	0.35008	0.507000	0.33981	1.685000	0.37659	1.262000	0.44165	0.163000	0.16589	TAA		0.433	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006445.1	NM_033440		5	164	0	0	0	1	0	5	164				
CALCR	799	broad.mit.edu	37	7	93108678	93108678	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr7:93108678A>T	ENST00000394441.1	-	3	508	c.193T>A	c.(193-195)Tac>Aac	p.Y65N	CALCR_ENST00000359558.2_Missense_Mutation_p.Y83N|CALCR_ENST00000426151.1_Missense_Mutation_p.Y65N|CALCR_ENST00000360249.4_Missense_Mutation_p.Y65N|CALCR_ENST00000421592.1_Missense_Mutation_p.Y65N	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	83					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)	TCTCCTTGGTATGCGGGTAAC	0.368																																						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.(247-249)Tac>Aac		calcitonin receptor	Salmon Calcitonin(DB00017)						257.0	244.0	248.0					7																	93108678		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.chr7:93108678A>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.193T>A	7.37:g.93108678A>T	ENSP00000377959:p.Tyr65Asn		Somatic				CALCR_ENST00000421592.1_Missense_Mutation_p.Y65N|CALCR_ENST00000360249.4_Missense_Mutation_p.Y65N|CALCR_ENST00000426151.1_Missense_Mutation_p.Y65N|CALCR_ENST00000394441.1_Missense_Mutation_p.Y65N	p.Y83N	NM_001164737.1	NP_001158209.1	WXS	Illumina GAIIx	Phase_I	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		5	546	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		65					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.247T>A	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	A	9.336	1.061807	0.19987	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	5.22	4.06	0.47325	.	.	.	.	.	T	0.47857	0.1468	M	0.61703	1.905	0.52099	D	0.999949	B;B	0.22211	0.066;0.024	B;B	0.21151	0.033;0.014	T	0.40683	-0.9550	9	0.32370	T	0.25	.	10.5342	0.44994	0.8378:0.1622:0.0:0.0	.	83;65	F5H605;A4D1G6	.;.	N	83;65;65;65;65;65	ENSP00000352561:Y83N;ENSP00000353385:Y65N;ENSP00000399552:Y65N;ENSP00000377959:Y65N;ENSP00000389295:Y65N	ENSP00000352561:Y83N	Y	-	1	0	CALCR	92946614	0.996000	0.38824	0.567000	0.28434	0.206000	0.24218	3.399000	0.52586	1.106000	0.41623	0.533000	0.62120	TAC		0.368	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		5	350	0	0	0	1	0	5	350				
ZNF749	388567	broad.mit.edu	37	19	57955937	57955937	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr19:57955937A>G	ENST00000334181.4	+	3	1671	c.1421A>G	c.(1420-1422)aAg>aGg	p.K474R	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	474					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K387R(1)|p.K474R(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		ATTCAACACAAGAGGATTGAC	0.448																																						ENST00000334181.4																			2	Substitution - Missense(2)	p.K387R(1)|p.K474R(1)	kidney(2)	breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(1420-1422)aAg>aGg		zinc finger protein 749							85.0	79.0	81.0					19																	57955937		2203	4300	6503	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57955937A>G	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1421A>G	19.37:g.57955937A>G	ENSP00000333980:p.Lys474Arg		Somatic				AC004076.9_ENST00000596831.1_Intron	p.K474R	NM_001023561.2	NP_001018855.2	WXS	Illumina GAIIx	Phase_I	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	1671	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	474						Missense_Mutation	SNP	ENST00000334181.4	37	c.1421A>G	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	A	8.042	0.763991	0.15914	.	.	ENSG00000186230	ENST00000334181	T	0.15017	2.46	0.894	0.894	0.19242	.	.	.	.	.	T	0.07728	0.0194	N	0.11364	0.135	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.31364	-0.9946	9	0.42905	T	0.14	.	3.7157	0.08437	0.5932:0.4067:0.0:1.0E-4	.	474	O43361	ZN749_HUMAN	R	474	ENSP00000333980:K474R	ENSP00000333980:K474R	K	+	2	0	ZNF749	62647749	0.187000	0.23238	0.002000	0.10522	0.001000	0.01503	-0.365000	0.07573	0.639000	0.30564	0.377000	0.23210	AAG		0.448	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		178	327	0	0	0	1	0	178	327				
SEMA6C	10500	broad.mit.edu	37	1	151109450	151109450	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:151109450T>G	ENST00000341697.3	-	11	2548	c.857A>C	c.(856-858)aAc>aCc	p.N286T				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	286	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GACAGAGCAGTTGAGCCGAAG	0.572																																						ENST00000341697.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(856-858)aAc>aCc		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C							107.0	114.0	112.0					1																	151109450		2203	4300	6503	SO:0001583	missense	10500					integral to membrane	receptor activity	g.chr1:151109450T>G	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.857A>C	1.37:g.151109450T>G	ENSP00000344148:p.Asn286Thr		Somatic					p.N286T			WXS	Illumina GAIIx	Phase_I	Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		11	2548	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		286			Sema.		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	c.857A>C	CCDS984.1	.	.	.	.	.	.	.	.	.	.	T	19.96	3.923496	0.73213	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697;ENST00000392792	T;T;T;T	0.11821	2.74;2.74;2.74;2.74	4.69	4.69	0.59074	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.29491	0.0735	M	0.83312	2.635	0.47584	D	0.999465	D;D;D;D	0.89917	1.0;0.996;1.0;0.999	D;D;D;D	0.97110	1.0;0.986;1.0;0.996	T	0.08126	-1.0737	10	0.56958	D	0.05	.	12.154	0.54066	0.0:0.0:0.0:1.0	.	286;246;286;286	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	T	286;246;286;286;286	ENSP00000357910:N286T;ENSP00000357908:N246T;ENSP00000357909:N286T;ENSP00000344148:N286T	ENSP00000344148:N286T	N	-	2	0	SEMA6C	149376074	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.982000	0.70532	1.971000	0.57363	0.459000	0.35465	AAC		0.572	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		6	419	0	0	0	1	0	6	419				
ITIH6	347365	broad.mit.edu	37	X	54785300	54785300	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chrX:54785300C>T	ENST00000218436.6	-	8	1236	c.1207G>A	c.(1207-1209)Ggc>Agc	p.G403S		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	403	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G403S(1)									GTCGTCACGCCGGCCGTGGGC	0.597																																						ENST00000218436.6																			1	Substitution - Missense(1)	p.G403S(1)	kidney(1)								c.(1207-1209)Ggc>Agc		inter-alpha-trypsin inhibitor heavy chain family, member 6							56.0	44.0	48.0					X																	54785300		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54785300C>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.1207G>A	X.37:g.54785300C>T	ENSP00000218436:p.Gly403Ser		Somatic					p.G403S	NM_198510.2	NP_940912.1	WXS	Illumina GAIIx	Phase_I	Q6UXX5	ITH5L_HUMAN			8	1236	-			403			VWFA.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.1207G>A	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637957	0.29157	.	.	ENSG00000102313	ENST00000218436	T	0.03745	3.82	3.78	1.99	0.26369	von Willebrand factor, type A (3);	0.069948	0.56097	U	0.000027	T	0.07188	0.0182	M	0.77406	2.37	0.21697	N	0.999583	P	0.40970	0.734	B	0.42112	0.376	T	0.12528	-1.0544	10	0.49607	T	0.09	.	8.4301	0.32753	0.0:0.7908:0.0:0.2092	.	403	Q6UXX5	ITH5L_HUMAN	S	403	ENSP00000218436:G403S	ENSP00000218436:G403S	G	-	1	0	ITIH5L	54802025	0.809000	0.29036	0.000000	0.03702	0.000000	0.00434	2.195000	0.42677	0.038000	0.15604	-0.180000	0.13094	GGC		0.597	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		58	112	0	0	0	1	0	58	112				
CSMD1	64478	broad.mit.edu	37	8	3351201	3351201	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr8:3351201G>A	ENST00000520002.1	-	12	1950	c.1395C>T	c.(1393-1395)gaC>gaT	p.D465D	CSMD1_ENST00000537824.1_Silent_p.D464D|CSMD1_ENST00000542608.1_Silent_p.D464D|CSMD1_ENST00000539096.1_Silent_p.D464D|CSMD1_ENST00000602723.1_Silent_p.D465D|CSMD1_ENST00000602557.1_Silent_p.D465D|CSMD1_ENST00000400186.3_Silent_p.D465D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	465	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCGTCAGGGTGTCATAGCCTC	0.483																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(1393-1395)gaC>gaT		CUB and Sushi multiple domains 1							85.0	90.0	88.0					8																	3351201		2183	4299	6482	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3351201G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.1395C>T	8.37:g.3351201G>A			Somatic				CSMD1_ENST00000539096.1_Silent_p.D464D|CSMD1_ENST00000537824.1_Silent_p.D464D|CSMD1_ENST00000602723.1_Silent_p.D465D|CSMD1_ENST00000400186.3_Silent_p.D465D|CSMD1_ENST00000602557.1_Silent_p.D465D|CSMD1_ENST00000542608.1_Silent_p.D464D	p.D465D			WXS	Illumina GAIIx	Phase_I	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	12	1950	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	465			CUB 3.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.1395C>T																																																																																					0.483	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		7	103	0	0	0	1	0	7	103				
SLITRK3	22865	broad.mit.edu	37	3	164908473	164908473	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr3:164908473T>C	ENST00000475390.1	-	2	589	c.146A>G	c.(145-147)tAc>tGc	p.Y49C	SLITRK3_ENST00000241274.3_Missense_Mutation_p.Y49C			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	49					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AACTTCACAGTAGCATGGATC	0.388										HNSCC(40;0.11)																												ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(145-147)tAc>tGc		SLIT and NTRK-like family, member 3							119.0	121.0	120.0					3																	164908473		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164908473T>C	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.146A>G	3.37:g.164908473T>C	ENSP00000420091:p.Tyr49Cys	HNSCC(40;0.11)	Somatic				SLITRK3_ENST00000241274.3_Missense_Mutation_p.Y49C	p.Y49C			WXS	Illumina GAIIx	Phase_I	O94933	SLIK3_HUMAN			2	589	-			49					Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.146A>G	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	T	13.96	2.391930	0.42410	.	.	ENSG00000121871	ENST00000475390;ENST00000241274;ENST00000497724	T;T;D	0.83506	0.67;0.67;-1.73	6.01	6.01	0.97437	.	0.000000	0.34338	N	0.004042	D	0.87700	0.6243	L	0.49126	1.545	0.41954	D	0.990675	D	0.76494	0.999	P	0.62885	0.908	D	0.87007	0.2120	10	0.39692	T	0.17	-17.4297	16.5237	0.84324	0.0:0.0:0.0:1.0	.	49	O94933	SLIK3_HUMAN	C	49	ENSP00000420091:Y49C;ENSP00000241274:Y49C;ENSP00000419611:Y49C	ENSP00000241274:Y49C	Y	-	2	0	SLITRK3	166391167	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.181000	0.58303	2.306000	0.77630	0.533000	0.62120	TAC		0.388	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		3	153	0	0	0	1	0	3	153				
SNRNP48	154007	broad.mit.edu	37	6	7606369	7606369	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr6:7606369T>A	ENST00000342415.5	+	8	971	c.912T>A	c.(910-912)caT>caA	p.H304Q		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	304	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GAAGCCCACATAAAAGAAAAA	0.428																																						ENST00000342415.5																			0				kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(910-912)caT>caA		small nuclear ribonucleoprotein 48kDa (U11/U12)							81.0	79.0	79.0					6																	7606369		2203	4300	6503	SO:0001583	missense	154007				mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding	g.chr6:7606369T>A	AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"""U11/U12 snRNP 48K"""		"""chromosome 6 open reading frame 151"""	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.912T>A	6.37:g.7606369T>A	ENSP00000339834:p.His304Gln		Somatic					p.H304Q	NM_152551.3	NP_689764.3	WXS	Illumina GAIIx	Phase_I	Q6IEG0	SNR48_HUMAN			8	971	+			304			Arg-rich.		A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Missense_Mutation	SNP	ENST00000342415.5	37	c.912T>A	CCDS4502.1	.	.	.	.	.	.	.	.	.	.	T	14.02	2.409395	0.42715	.	.	ENSG00000168566	ENST00000342415	T	0.30448	1.53	6.02	0.428	0.16499	.	0.415365	0.27749	N	0.018009	T	0.09686	0.0238	L	0.44542	1.39	0.26951	N	0.966026	B	0.28128	0.201	B	0.24701	0.055	T	0.20638	-1.0269	10	0.46703	T	0.11	-15.4244	9.6789	0.40059	0.0:0.492:0.0:0.508	.	304	Q6IEG0	SNR48_HUMAN	Q	304	ENSP00000339834:H304Q	ENSP00000339834:H304Q	H	+	3	2	SNRNP48	7551368	0.279000	0.24239	0.676000	0.29932	0.702000	0.40608	-0.569000	0.05902	-0.023000	0.13963	0.533000	0.62120	CAT		0.428	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039787.3	NM_152551		4	185	0	0	0	1	0	4	185				
ST18	9705	broad.mit.edu	37	8	53077787	53077787	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr8:53077787T>A	ENST00000276480.7	-	12	1888		c.e12-2			NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger						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)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGCAAGAACTAAGCACAAAA	0.428																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.e12-2		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							157.0	150.0	152.0					8																	53077787		2203	4300	6503	SO:0001630	splice_region_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53077787T>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1205-2A>T	8.37:g.53077787T>A			Somatic						NM_014682.2	NP_055497.1	WXS	Illumina GAIIx	Phase_I	O60284	ST18_HUMAN			12	1888	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)						Q17RY1	Splice_Site	SNP	ENST00000276480.7	37		CCDS6149.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.797320	0.90538	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3526	0.83220	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ST18	53240340	1.000000	0.71417	0.968000	0.41197	0.966000	0.64601	7.903000	0.87398	2.255000	0.74692	0.533000	0.62120	.		0.428	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		Intron	8	284	0	0	0	1	0	8	284				
DIS3L2	129563	broad.mit.edu	37	2	232952199	232952199	+	Silent	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:232952199A>T	ENST00000409307.1	+	5	369	c.369A>T	c.(367-369)gtA>gtT	p.V123V	DIS3L2_ENST00000409401.3_Silent_p.V123V|DIS3L2_ENST00000470087.1_3'UTR|DIS3L2_ENST00000360410.4_Silent_p.V123V|DIS3L2_ENST00000273009.6_Silent_p.V123V|DIS3L2_ENST00000325385.7_Silent_p.V123V					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TTCTTTAGGTAGTTAAACCAG	0.393																																						ENST00000325385.7																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40						c.(367-369)gtA>gtT		DIS3 mitotic control homolog (S. cerevisiae)-like 2							37.0	38.0	38.0					2																	232952199		1835	4103	5938	SO:0001819	synonymous_variant	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:232952199A>T	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.369A>T	2.37:g.232952199A>T			Somatic				DIS3L2_ENST00000360410.4_Silent_p.V123V|DIS3L2_ENST00000409401.3_Silent_p.V123V|DIS3L2_ENST00000273009.6_Silent_p.V123V|DIS3L2_ENST00000409307.1_Silent_p.V123V|DIS3L2_ENST00000470087.1_3'UTR	p.V123V	NM_152383.4	NP_689596.4	WXS	Illumina GAIIx	Phase_I	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	6	645	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	123						Silent	SNP	ENST00000409307.1	37	c.369A>T	CCDS42834.1																																																																																				0.393	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		5	68	0	0	0	1	0	5	68				
IPO13	9670	broad.mit.edu	37	1	44425962	44425962	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:44425962G>A	ENST00000372343.3	+	12	2732	c.2070G>A	c.(2068-2070)aaG>aaA	p.K690K		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	690					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K690K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TTATCCAGAAGGTGCTGAGCA	0.562																																						ENST00000372343.3																			1	Substitution - coding silent(1)	p.K690K(1)	kidney(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2068-2070)aaG>aaA		importin 13							324.0	267.0	286.0					1																	44425962		2203	4300	6503	SO:0001819	synonymous_variant	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44425962G>A	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.2070G>A	1.37:g.44425962G>A			Somatic					p.K690K	NM_014652.3	NP_055467.3	WXS	Illumina GAIIx	Phase_I	O94829	IPO13_HUMAN			12	2732	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	690					D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Silent	SNP	ENST00000372343.3	37	c.2070G>A	CCDS503.1																																																																																				0.562	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		25	534	0	0	0	1	0	25	534				
PTK2	5747	broad.mit.edu	37	8	141727751	141727751	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr8:141727751T>A	ENST00000522684.1	-	23	2317	c.2088A>T	c.(2086-2088)agA>agT	p.R696S	PTK2_ENST00000519465.1_Missense_Mutation_p.R324S|PTK2_ENST00000517887.1_Missense_Mutation_p.R740S|PTK2_ENST00000340930.3_Missense_Mutation_p.R696S|PTK2_ENST00000519419.1_Missense_Mutation_p.R740S|PTK2_ENST00000535192.1_Missense_Mutation_p.R696S|PTK2_ENST00000538769.1_Missense_Mutation_p.R364S|PTK2_ENST00000521059.1_Missense_Mutation_p.R696S|PTK2_ENST00000430260.2_Missense_Mutation_p.R6S|PTK2_ENST00000395218.2_Missense_Mutation_p.R696S	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	696					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)	p.R718S(1)|p.R696S(1)|p.R648S(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TGGCCTGTCTTCTGGACTCCA	0.537																																						ENST00000522684.1																			3	Substitution - Missense(3)	p.R718S(1)|p.R696S(1)|p.R648S(1)	kidney(3)	breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48						c.(2086-2088)agA>agT		protein tyrosine kinase 2							169.0	141.0	151.0					8																	141727751		2203	4300	6503	SO:0001583	missense	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141727751T>A	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.2088A>T	8.37:g.141727751T>A	ENSP00000429911:p.Arg696Ser		Somatic				PTK2_ENST00000538769.1_Missense_Mutation_p.R364S|PTK2_ENST00000395218.2_Missense_Mutation_p.R696S|PTK2_ENST00000430260.2_Missense_Mutation_p.R6S|PTK2_ENST00000519419.1_Missense_Mutation_p.R740S|PTK2_ENST00000517887.1_Missense_Mutation_p.R740S|PTK2_ENST00000519465.1_Missense_Mutation_p.R324S|PTK2_ENST00000521059.1_Missense_Mutation_p.R696S|PTK2_ENST00000535192.1_Missense_Mutation_p.R696S|PTK2_ENST00000340930.3_Missense_Mutation_p.R696S	p.R696S	NM_153831.3	NP_722560.1	WXS	Illumina GAIIx	Phase_I	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		23	2317	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	696					B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.2088A>T	CCDS6381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.8|26.8	4.776662|4.776662	0.90195|0.90195	.|.	.|.	ENSG00000169398|ENSG00000169398	ENST00000519654|ENST00000522684;ENST00000535192;ENST00000519465;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000430260;ENST00000521986;ENST00000522424;ENST00000521562;ENST00000523388	.|T;T;T;T;T;T;T;T;T;T;T;T	.|0.76839	.|-1.04;-1.05;-1.01;-1.05;-1.04;-1.05;-1.01;-1.05;-1.01;-1.05;0.26;-1.02	5.62|5.62	2.03|2.03	0.26663|0.26663	.|Protein kinase-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.83138	.|0.5189	M|M	0.75777|0.75777	2.31|2.31	0.52099|0.52099	D|D	0.99994|0.99994	.|P;B;P;D;D;D;P;P;D;D	.|0.67145	.|0.594;0.444;0.952;0.994;0.996;0.993;0.952;0.846;0.991;0.991	.|B;B;P;D;D;P;P;P;P;P	.|0.74348	.|0.164;0.206;0.703;0.983;0.94;0.777;0.703;0.687;0.885;0.885	.|T	.|0.79438	.|-0.1803	.|10	.|0.51188	.|T	.|0.08	.|.	4.2646|4.2646	0.10757|0.10757	0.0:0.368:0.1854:0.4466|0.0:0.368:0.1854:0.4466	.|.	.|696;391;616;696;718;696;648;544;364;324	.|B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q05397-2;Q8N9D7;E9PEI4	.|.;.;.;FAK1_HUMAN;.;.;.;.;.;.	X|S	707|696;696;324;740;696;648;696;617;391;368;696;364;740;6;394;6;6;6	.|ENSP00000429911:R696S;ENSP00000438009:R696S;ENSP00000429170:R324S;ENSP00000429082:R740S;ENSP00000429474:R696S;ENSP00000378644:R696S;ENSP00000428492:R368S;ENSP00000341189:R696S;ENSP00000445742:R364S;ENSP00000429129:R740S;ENSP00000403416:R6S;ENSP00000430603:R394S	.|ENSP00000341189:R696S	K|R	-|-	1|3	0|2	PTK2|PTK2	141796933|141796933	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.183000|2.183000	0.42565|0.42565	0.423000|0.423000	0.26033|0.26033	0.528000|0.528000	0.53228|0.53228	AAG|AGA		0.537	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		141	293	0	0	0	1	0	141	293				
MEI1	150365	broad.mit.edu	37	22	42180387	42180387	+	Silent	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr22:42180387T>C	ENST00000401548.3	+	25	3172	c.3132T>C	c.(3130-3132)gcT>gcC	p.A1044A	MEI1_ENST00000476893.1_3'UTR|MEI1_ENST00000300398.4_Silent_p.A52A|MEI1_ENST00000400107.1_Silent_p.A377A	NM_152513.3	NP_689726.3			meiosis inhibitor 1									p.A1050A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TATTGAAGGCTCTCAGCTTTC	0.493																																						ENST00000401548.3																			1	Substitution - coding silent(1)	p.A1050A(1)	kidney(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(3130-3132)gcT>gcC		meiosis inhibitor 1							73.0	72.0	72.0					22																	42180387		1889	4109	5998	SO:0001819	synonymous_variant	150365						binding	g.chr22:42180387T>C	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.3132T>C	22.37:g.42180387T>C			Somatic				MEI1_ENST00000476893.1_3'UTR|MEI1_ENST00000400107.1_Silent_p.A377A|MEI1_ENST00000300398.4_Silent_p.A52A	p.A1044A	NM_152513.3	NP_689726.3	WXS	Illumina GAIIx	Phase_I	Q5TIA1	MEI1_HUMAN			25	3172	+			1044						Silent	SNP	ENST00000401548.3	37	c.3132T>C	CCDS46718.1																																																																																				0.493	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		53	87	0	0	0	1	0	53	87				
TCL6	27004	broad.mit.edu	37	14	96134618	96134618	+	RNA	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr14:96134618C>T	ENST00000467865.1	+	0	1821				RP11-1070N10.6_ENST00000461160.1_RNA					T-cell leukemia/lymphoma 6 (non-protein coding)											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		TGCAGCAGTCCATTGACCAAT	0.517			T	TRA@	T-ALL																																	ENST00000467865.1				Dom	yes		14	14q32.1	27004	T	T-cell leukemia/lymphoma 6			L	TRA@		T-ALL		0				large_intestine(1)|lung(7)	8															145.0	116.0	125.0					14																	96134618		2203	4300	6503			27004							g.chr14:96134618C>T	AB035338		14q32.1	2012-10-16	2010-06-01		ENSG00000187621	ENSG00000187621		"""Long non-coding RNAs"""	13463	non-coding RNA	RNA, long non-coding		604412	"""T-cell leukemia/lymphoma 6"""			10588720, 10851082	Standard	NR_028288		Approved	TCL6e1, TNG2, TNG1	uc001yev.2		OTTHUMG00000149979		14.37:g.96134618C>T			Somatic				RP11-1070N10.6_ENST00000461160.1_RNA				WXS	Illumina GAIIx	Phase_I				Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)	0	1821	+		all_cancers(154;0.103)							RNA	SNP	ENST00000467865.1	37																																																																																						0.517	TCL6-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000315133.1	NM_012468		4	231	0	0	0	1	0	4	231				
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	NDUFS1_ENST00000423725.1_5'Flank|EEF1B2_ENST00000392221.1_Silent_p.P45P|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|EEF1B2_ENST00000236957.5_Silent_p.P45P|NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|SNORD51_ENST00000384320.2_RNA|SNORA41_ENST00000384675.1_RNA	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448																																						ENST00000392222.2																			5	Substitution - coding silent(5)	p.P45P(5)	kidney(2)|endometrium(2)|lung(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(133-135)ccG>ccA		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025366		2203	4300	6503	SO:0001819	synonymous_variant	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025366G>A	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.135G>A	2.37:g.207025366G>A			Somatic				EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	p.P45P	NM_001959.3	NP_001950.1	WXS	Illumina GAIIx	Phase_I	P24534	EF1B_HUMAN			2	510	+			45			GST C-terminal.		A8K795|Q6IBH9	Silent	SNP	ENST00000392222.2	37	c.135G>A	CCDS2367.1																																																																																				0.448	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		4	48	0	0	0	1	0	4	48				
SMG7	9887	broad.mit.edu	37	1	183495729	183495729	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:183495729A>T	ENST00000347615.2	+	5	431		c.e5-1		SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000367537.3_Splice_Site|SMG7_ENST00000456731.2_Splice_Site|SMG7_ENST00000515829.2_Splice_Site	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor						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)			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						TTTTTCTTTTAGTTATTACAA	0.333																																						ENST00000367537.3																			0				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.e6-1		SMG7 nonsense mediated mRNA decay factor							70.0	75.0	74.0					1																	183495729		2203	4300	6503	SO:0001630	splice_region_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.chr1:183495729A>T	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.313-1A>T	1.37:g.183495729A>T			Somatic				SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000347615.2_Splice_Site|SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000456731.2_Splice_Site|SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000507469.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q92540	SMG7_HUMAN			6	594	+								B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Splice_Site	SNP	ENST00000347615.2	37		CCDS1355.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.464105	0.63513	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1025	0.81194	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMG7	181762352	1.000000	0.71417	0.974000	0.42286	0.892000	0.51952	8.638000	0.91019	2.254000	0.74563	0.533000	0.62120	.		0.333	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837	Intron	9	102	0	0	0	1	0	9	102				
PBRM1	55193	broad.mit.edu	37	3	52649373	52649373	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr3:52649373T>A	ENST00000296302.7	-	15	1919	c.1918A>T	c.(1918-1920)Aag>Tag	p.K640*	PBRM1_ENST00000409767.1_Nonsense_Mutation_p.K655*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.K640*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.K608*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.K655*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.K640*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.K640*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.K640*			Q86U86	PB1_HUMAN	polybromo 1	640					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.K640*(2)|p.K608*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTACTCAGCTTGAGTTTGGGA	0.363			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		3	Substitution - Nonsense(3)	p.K640*(2)|p.K608*(1)	kidney(3)	breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(1822-1824)Aag>Tag		polybromo 1							104.0	92.0	96.0					3																	52649373		2203	4300	6503	SO:0001587	stop_gained	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52649373T>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1918A>T	3.37:g.52649373T>A	ENSP00000296302:p.Lys640*		Somatic				PBRM1_ENST00000409057.1_Nonsense_Mutation_p.K640*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.K640*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.K655*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.K640*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.K640*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.K640*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.K655*	p.K608*			WXS	Illumina GAIIx	Phase_I	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	14	1824	-			640			Bromo 4.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37	c.1822A>T		.	.	.	.	.	.	.	.	.	.	T	41	8.978253	0.99023	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-65.5612	16.19	0.81981	0.0:0.0:0.0:1.0	.	.	.	.	X	608;640;640;640;640;640;655;655;640;599	.	ENSP00000296302:K640X	K	-	1	0	PBRM1	52624413	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.040000	0.89188	2.225000	0.72522	0.460000	0.39030	AAG		0.363	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		11	41	0	0	0	1	0	11	41				
ATG12	9140	broad.mit.edu	37	5	115177150	115177150	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr5:115177150G>C	ENST00000509910.1	-	1	405	c.100C>G	c.(100-102)Ccc>Gcc	p.P34A	ATG12_ENST00000274459.4_Missense_Mutation_p.P81A|ATG12_ENST00000500945.2_Missense_Mutation_p.P34A|ATG12_ENST00000509598.1_5'Flank|AP3S1_ENST00000316788.7_5'Flank			O94817	ATG12_HUMAN	autophagy related 12	34					autophagic vacuole assembly (GO:0000045)|C-terminal protein lipidation (GO:0006501)|cellular response to nitrogen starvation (GO:0006995)|innate immune response (GO:0045087)|mitochondrion degradation (GO:0000422)|negative regulation of type I interferon production (GO:0032480)|nucleophagy (GO:0044804)	Atg12-Atg5-Atg16 complex (GO:0034274)|pre-autophagosomal structure membrane (GO:0034045)	Atg8 ligase activity (GO:0019776)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		GAAGACGGGGGCTCCGGGGTG	0.567																																						ENST00000509910.1																			0				endometrium(2)|kidney(1)|lung(1)|prostate(1)	5						c.(100-102)Ccc>Gcc		autophagy related 12							53.0	60.0	58.0					5																	115177150		2202	4300	6502	SO:0001583	missense	9140				autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding	g.chr5:115177150G>C	AB017507	CCDS4122.1, CCDS4122.2, CCDS64222.1	5q21-q22	2014-02-12	2012-06-06	2005-09-11	ENSG00000145782	ENSG00000145782			588	protein-coding gene	gene with protein product	"""APG12 autophagy 12-like"""	609608	"""Apg12 (autophagy 12, S. cerevisiae)-like"", ""APG12 autophagy 12-like (S. cerevisiae)"", ""ATG12 autophagy related 12 homolog (S. cerevisiae)"""	APG12L		9852036	Standard	NM_004707		Approved	APG12	uc003krh.3	O94817	OTTHUMG00000128889	ENST00000509910.1:c.100C>G	5.37:g.115177150G>C	ENSP00000425107:p.Pro34Ala		Somatic				ATG12_ENST00000274459.4_Missense_Mutation_p.P81A|ATG12_ENST00000500945.2_Missense_Mutation_p.P34A	p.P34A			WXS	Illumina GAIIx	Phase_I	O94817	ATG12_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)	1	405	-		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	34					Q6PJV2	Missense_Mutation	SNP	ENST00000509910.1	37	c.100C>G	CCDS4122.2	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950494	0.34377	.	.	ENSG00000145782	ENST00000274459;ENST00000509910;ENST00000500945	.	.	.	4.3	3.41	0.39046	.	0.257566	0.31636	N	0.007314	T	0.52008	0.1708	M	0.69823	2.125	0.41770	D	0.989762	P;B	0.42908	0.793;0.295	B;B	0.37550	0.253;0.091	T	0.51060	-0.8753	9	0.30854	T	0.27	-12.6849	10.6523	0.45655	0.0:0.0:0.8075:0.1925	.	34;81	O94817;C1IDX9	ATG12_HUMAN;.	A	81;34;34	.	ENSP00000274459:P81A	P	-	1	0	ATG12	115205049	1.000000	0.71417	0.788000	0.31933	0.035000	0.12851	3.730000	0.55006	0.784000	0.33661	-0.182000	0.12963	CCC		0.567	ATG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250851.3	NM_004707		8	80	0	0	0	1	0	8	80				
PER2	8864	broad.mit.edu	37	2	239161812	239161812	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:239161812C>T	ENST00000254657.3	-	19	3131	c.2852G>A	c.(2851-2853)aGc>aAc	p.S951N	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	951	Interaction with PPARG. {ECO:0000250|UniProtKB:O54943}.|Pro-rich.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CGAGGTCCGGCTGGGGAACTC	0.662																																						ENST00000254657.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2851-2853)aGc>aAc		period circadian clock 2							50.0	52.0	51.0					2																	239161812		2203	4300	6503	SO:0001583	missense	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239161812C>T	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.2852G>A	2.37:g.239161812C>T	ENSP00000254657:p.Ser951Asn		Somatic				AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	p.S951N	NM_022817.2	NP_073728.1	WXS	Illumina GAIIx	Phase_I	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	19	3131	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	951			Pro-rich.		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.2852G>A	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	C	3.860	-0.030127	0.07543	.	.	ENSG00000132326	ENST00000254657	T	0.11495	2.77	4.24	-0.0782	0.13716	.	3.562460	0.01549	U	0.019593	T	0.07954	0.0199	L	0.36672	1.1	0.09310	N	1	B;B	0.26002	0.139;0.139	B;B	0.17433	0.018;0.018	T	0.25572	-1.0128	10	0.15066	T	0.55	-0.3932	2.2996	0.04159	0.1538:0.5083:0.1505:0.1873	.	951;951	B4DH14;O15055	.;PER2_HUMAN	N	951	ENSP00000254657:S951N	ENSP00000254657:S951N	S	-	2	0	PER2	238826551	0.000000	0.05858	0.003000	0.11579	0.321000	0.28281	0.379000	0.20585	0.135000	0.18707	0.655000	0.94253	AGC		0.662	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		3	84	0	0	0	1	0	3	84				
OTUD3	23252	broad.mit.edu	37	1	20230758	20230758	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:20230758A>T	ENST00000375120.3	+	5	607		c.e5-1			NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3						protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGTTTCCTTTAGTTTCAGATG	0.338																																						ENST00000375120.3																			0				breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9						c.e5-1		OTU domain containing 3							67.0	63.0	64.0					1																	20230758		1829	4082	5911	SO:0001630	splice_region_variant	23252							g.chr1:20230758A>T	AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"""OTU domain containing"""	29038	protein-coding gene	gene with protein product		611758	"""OTU domain containing 3"""			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.607-1A>T	1.37:g.20230758A>T			Somatic						NM_015207.1	NP_056022.1	WXS	Illumina GAIIx	Phase_I	Q5T2D3	OTUD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	5	607	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)						O75047	Splice_Site	SNP	ENST00000375120.3	37		CCDS41279.1	.	.	.	.	.	.	.	.	.	.	A	16.74	3.207867	0.58343	.	.	ENSG00000169914	ENST00000375120	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9564	0.35820	0.9111:0.0:0.0889:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OTUD3	20103345	0.999000	0.42202	1.000000	0.80357	0.886000	0.51366	1.421000	0.34815	1.874000	0.54306	0.482000	0.46254	.		0.338	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007655.1		Intron	4	33	0	0	0	1	0	4	33				
HERC1	8925	broad.mit.edu	37	15	63915942	63915942	+	Silent	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr15:63915942G>T	ENST00000443617.2	-	73	13680	c.13593C>A	c.(13591-13593)acC>acA	p.T4531T		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4531	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.T4531T(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCTCTGTGATGGTGTCATCAA	0.522																																						ENST00000443617.2																			2	Substitution - coding silent(2)	p.T4531T(2)	kidney(2)	NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(13591-13593)acC>acA		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							122.0	122.0	122.0					15																	63915942		2066	4225	6291	SO:0001819	synonymous_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63915942G>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13593C>A	15.37:g.63915942G>T			Somatic					p.T4531T	NM_003922.3	NP_003913.3	WXS	Illumina GAIIx	Phase_I	Q15751	HERC1_HUMAN			73	13680	-			4531			HECT.		Q8IW65	Silent	SNP	ENST00000443617.2	37	c.13593C>A	CCDS45277.1																																																																																				0.522	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		209	294	1	0	5.12032e-141	1	6.03739e-141	209	294				
MKL1	57591	broad.mit.edu	37	22	40859228	40859228	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr22:40859228G>A	ENST00000355630.3	-	4	594	c.4C>T	c.(4-6)Ccg>Tcg	p.P2S	MKL1_ENST00000402042.1_Missense_Mutation_p.P2S|MKL1_ENST00000402630.1_Missense_Mutation_p.P2S|MKL1_ENST00000407029.1_Missense_Mutation_p.P2S|MKL1_ENST00000396617.3_Missense_Mutation_p.P2S	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	2	Mediates interaction with SCAI and ACTB. {ECO:0000250}.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.P2S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CACTTACGCGGCATGATCCCT	0.527			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		1	Substitution - Missense(1)	p.P2S(1)	kidney(1)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(4-6)Ccg>Tcg		megakaryoblastic leukemia (translocation) 1							213.0	181.0	192.0					22																	40859228		2203	4300	6503	SO:0001583	missense	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40859228G>A	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.4C>T	22.37:g.40859228G>A	ENSP00000347847:p.Pro2Ser		Somatic				MKL1_ENST00000355630.3_Missense_Mutation_p.P2S|MKL1_ENST00000402630.1_Missense_Mutation_p.P2S|MKL1_ENST00000407029.1_Missense_Mutation_p.P2S|MKL1_ENST00000402042.1_Missense_Mutation_p.P2S	p.P2S			WXS	Illumina GAIIx	Phase_I	Q969V6	MKL1_HUMAN			4	594	-			2			Mediates interaction with SCAI and ACTB (By similarity).		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.4C>T	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	G	32	5.162926	0.94727	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029;ENST00000402630;ENST00000422851	D;D;D;D;D;D	0.99833	-7.03;-7.03;-7.03;-7.03;-7.03;-7.03	5.87	5.87	0.94306	.	0.070502	0.56097	D	0.000024	D	0.99775	0.9907	M	0.78456	2.415	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.64144	0.922;0.921;0.922	D	0.97564	1.0100	10	0.87932	D	0	.	18.7629	0.91860	0.0:0.0:1.0:0.0	.	2;2;2	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	S	2;2;2;2;2;29	ENSP00000347847:P2S;ENSP00000379861:P2S;ENSP00000385584:P2S;ENSP00000385835:P2S;ENSP00000385076:P2S;ENSP00000398478:P29S	ENSP00000347847:P2S	P	-	1	0	MKL1	39189174	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.733000	0.91539	2.941000	0.99782	0.655000	0.94253	CCG		0.527	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		5	708	0	0	0	1	0	5	708				
ARID1A	8289	broad.mit.edu	37	1	27099852	27099852	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:27099852C>A	ENST00000324856.7	+	15	4102	c.3731C>A	c.(3730-3732)cCc>cAc	p.P1244H	ARID1A_ENST00000457599.2_Missense_Mutation_p.P1244H|ARID1A_ENST00000374152.2_Missense_Mutation_p.P861H|ARID1A_ENST00000540690.1_5'UTR	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1244					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.P1244H(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGGAGTGATCCCTTCATGTCC	0.592			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	1	Substitution - Missense(1)	p.P1244H(1)	kidney(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(3730-3732)cCc>cAc		AT rich interactive domain 1A (SWI-like)							61.0	62.0	62.0					1																	27099852		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27099852C>A	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3731C>A	1.37:g.27099852C>A	ENSP00000320485:p.Pro1244His		Somatic				ARID1A_ENST00000457599.2_Missense_Mutation_p.P1244H|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Missense_Mutation_p.P861H	p.P1244H	NM_006015.4	NP_006006.3	WXS	Illumina GAIIx	Phase_I	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	15	4102	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1244					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.3731C>A	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.826931	0.50739	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.02709	4.43;4.19;4.24	5.02	5.02	0.67125	.	0.055152	0.85682	D	0.000000	T	0.04497	0.0123	L	0.40543	1.245	0.80722	D	1	B;B;B;B	0.18461	0.004;0.016;0.028;0.016	B;B;B;B	0.14578	0.006;0.005;0.011;0.005	T	0.44128	-0.9348	10	0.62326	D	0.03	-4.3543	18.5413	0.91029	0.0:1.0:0.0:0.0	.	861;1244;1244;897	O14497-3;O14497;O14497-2;Q4LE49	.;ARI1A_HUMAN;.;.	H	1244;1244;861	ENSP00000320485:P1244H;ENSP00000387636:P1244H;ENSP00000363267:P861H	ENSP00000320485:P1244H	P	+	2	0	ARID1A	26972439	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.709000	0.68384	2.627000	0.88993	0.655000	0.94253	CCC		0.592	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		103	189	1	0	2.52883e-43	1	2.90938e-43	103	189				
RP1	6101	broad.mit.edu	37	8	55542223	55542223	+	Silent	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr8:55542223C>G	ENST00000220676.1	+	4	5929	c.5781C>G	c.(5779-5781)ccC>ccG	p.P1927P		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1927					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.P1927P(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTATCCAACCCATGAATGAGG	0.353																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			1	Substitution - coding silent(1)	p.P1927P(1)	lung(1)	NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(5779-5781)ccC>ccG		retinitis pigmentosa 1 (autosomal dominant)							82.0	82.0	82.0					8																	55542223		2203	4299	6502	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55542223C>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5781C>G	8.37:g.55542223C>G			Somatic					p.P1927P	NM_006269.1	NP_006260.1	WXS	Illumina GAIIx	Phase_I	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5929	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1927						Silent	SNP	ENST00000220676.1	37	c.5781C>G	CCDS6160.1																																																																																				0.353	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		4	146	0	0	0	1	0	4	146				
SLC16A2	6567	broad.mit.edu	37	X	73751240	73751240	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chrX:73751240C>G	ENST00000587091.1	+	6	1649	c.1472C>G	c.(1471-1473)gCt>gGt	p.A491G	SLC16A2_ENST00000276033.5_Missense_Mutation_p.A565G	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	491					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	ATCATCGGGGCTGTAATCCTC	0.522																																						ENST00000276033.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21						c.(1693-1695)gCt>gGt		solute carrier family 16, member 2 (thyroid hormone transporter)	Pyruvic acid(DB00119)						113.0	93.0	100.0					X																	73751240		2203	4300	6503	SO:0001583	missense	6567					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chrX:73751240C>G		CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"""Solute carriers"""	10923	protein-coding gene	gene with protein product		300095	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.1472C>G	X.37:g.73751240C>G	ENSP00000465734:p.Ala491Gly		Somatic				SLC16A2_ENST00000587091.1_Missense_Mutation_p.A491G	p.A565G			WXS	Illumina GAIIx	Phase_I	P36021	MOT8_HUMAN			6	1860	+			491					Q7Z797	Missense_Mutation	SNP	ENST00000587091.1	37	c.1694C>G	CCDS14426.2	.	.	.	.	.	.	.	.	.	.	C	10.45	1.354798	0.24512	.	.	ENSG00000147100	ENST00000276033	T	0.59224	0.28	5.3	4.42	0.53409	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.108801	0.64402	D	0.000008	T	0.32645	0.0836	N	0.05199	-0.095	0.43330	D	0.995361	B	0.16603	0.018	B	0.20184	0.028	T	0.16571	-1.0398	10	0.11182	T	0.66	.	11.63	0.51168	0.0:0.4965:0.5035:0.0	.	491	P36021	MOT8_HUMAN	G	565	ENSP00000276033:A565G	ENSP00000276033:A565G	A	+	2	0	SLC16A2	73667965	1.000000	0.71417	0.471000	0.27229	0.862000	0.49288	6.864000	0.75494	2.210000	0.71456	0.529000	0.55759	GCT		0.522	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3			4	246	0	0	0	1	0	4	246				
SCN10A	6336	broad.mit.edu	37	3	38770231	38770231	+	Silent	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr3:38770231A>T	ENST00000449082.2	-	15	2441	c.2442T>A	c.(2440-2442)cgT>cgA	p.R814R		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	814					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TTCGGTTGTTACGGTAGTTTT	0.527																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(2440-2442)cgT>cgA		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						129.0	129.0	129.0					3																	38770231		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38770231A>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2442T>A	3.37:g.38770231A>T			Somatic					p.R814R	NM_006514.2	NP_006505.2	WXS	Illumina GAIIx	Phase_I	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	15	2441	-			814					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.2442T>A	CCDS33736.1																																																																																				0.527	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		5	129	0	0	0	1	0	5	129				
OR9Q1	219956	broad.mit.edu	37	11	57947012	57947012	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr11:57947012A>T	ENST00000335397.3	+	3	412	c.96A>T	c.(94-96)ttA>ttT	p.L32F		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TCTTGTTTTTATTTATGTATC	0.448																																						ENST00000335397.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(94-96)ttA>ttT		olfactory receptor, family 9, subfamily Q, member 1							209.0	198.0	202.0					11																	57947012		2201	4296	6497	SO:0001583	missense	219956				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57947012A>T	AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.96A>T	11.37:g.57947012A>T	ENSP00000334934:p.Leu32Phe		Somatic					p.L32F	NM_001005212.3	NP_001005212.1	WXS	Illumina GAIIx	Phase_I	Q8NGQ5	OR9Q1_HUMAN			3	412	+		Breast(21;0.222)	32					Q2TAN3|Q96RA7	Missense_Mutation	SNP	ENST00000335397.3	37	c.96A>T	CCDS31543.1	.	.	.	.	.	.	.	.	.	.	A	10.69	1.422402	0.25639	.	.	ENSG00000186509	ENST00000335397	T	0.01804	4.63	4.75	-9.5	0.00584	.	0.000000	0.35555	N	0.003126	T	0.04815	0.0130	M	0.77820	2.39	0.18873	N	0.999987	D	0.71674	0.998	D	0.63113	0.911	T	0.18023	-1.0350	10	0.54805	T	0.06	-3.2934	7.7301	0.28781	0.1236:0.1588:0.5605:0.1571	.	32	Q8NGQ5	OR9Q1_HUMAN	F	32	ENSP00000334934:L32F	ENSP00000334934:L32F	L	+	3	2	OR9Q1	57703588	0.000000	0.05858	0.000000	0.03702	0.248000	0.25809	-4.246000	0.00267	-3.550000	0.00142	-0.376000	0.06991	TTA		0.448	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212		7	459	0	0	0	1	0	7	459				
C1orf111	284680	broad.mit.edu	37	1	162344057	162344057	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:162344057G>A	ENST00000367935.5	-	3	646	c.567C>T	c.(565-567)tgC>tgT	p.C189C	RP11-565P22.6_ENST00000431696.1_Intron	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111	189										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			GGTACATGCGGCAGCAGGCCA	0.582																																						ENST00000367935.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						c.(565-567)tgC>tgT		chromosome 1 open reading frame 111							148.0	143.0	145.0					1																	162344057		2203	4300	6503	SO:0001819	synonymous_variant	284680							g.chr1:162344057G>A	BC032957	CCDS1238.1	1q23.3	2008-02-05			ENSG00000171722	ENSG00000171722			27648	protein-coding gene	gene with protein product						12477932	Standard	NM_182581		Approved		uc001gbx.2	Q5T0L3	OTTHUMG00000031375	ENST00000367935.5:c.567C>T	1.37:g.162344057G>A			Somatic				RP11-565P22.6_ENST00000431696.1_Intron	p.C189C	NM_182581.3	NP_872387.2	WXS	Illumina GAIIx	Phase_I	Q5T0L3	CA111_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0938)		3	646	-	all_hematologic(112;0.15)		189					Q6X961|Q8NEC3	Silent	SNP	ENST00000367935.5	37	c.567C>T	CCDS1238.1																																																																																				0.582	C1orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076791.2	NM_182581		5	340	0	0	0	1	0	5	340				
IRF9	10379	broad.mit.edu	37	14	24632285	24632285	+	Silent	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr14:24632285T>A	ENST00000396864.3	+	3	578	c.291T>A	c.(289-291)gtT>gtA	p.V97V	IRF9_ENST00000557894.1_5'UTR|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	97					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)	p.V97V(1)		NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		TTAAGGAGGTTCCTGAGAGGG	0.527																																						ENST00000396864.3																			1	Substitution - coding silent(1)	p.V97V(1)	kidney(1)	NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(289-291)gtT>gtA		interferon regulatory factor 9							94.0	91.0	92.0					14																	24632285		2203	4300	6503	SO:0001819	synonymous_variant	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.chr14:24632285T>A	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.291T>A	14.37:g.24632285T>A			Somatic				IRF9_ENST00000557894.1_5'UTR|RP11-468E2.4_ENST00000558468.1_3'UTR	p.V97V	NM_006084.4	NP_006075.3	WXS	Illumina GAIIx	Phase_I	Q00978	IRF9_HUMAN		GBM - Glioblastoma multiforme(265;0.00853)	3	578	+			97					D3DS61	Silent	SNP	ENST00000396864.3	37	c.291T>A	CCDS9615.1																																																																																				0.527	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2			21	280	0	0	0	1	0	21	280				
BAGE2	85319	broad.mit.edu	37	21	11038952	11038952	+	RNA	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr21:11038952A>T	ENST00000470054.1	-	0	1251							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)		TGATAATGAAAATGATGACTC	0.423																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11038952A>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.11038952A>T			Somatic								WXS	Illumina GAIIx	Phase_I			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	1251	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.423	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		50	1010	0	0	0	1	0	50	1010				
MYOF	26509	broad.mit.edu	37	10	95093560	95093560	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr10:95093560G>A	ENST00000359263.4	-	42	4673	c.4674C>T	c.(4672-4674)taC>taT	p.Y1558Y	MYOF_ENST00000371501.4_Silent_p.Y1558Y|MYOF_ENST00000358334.5_Silent_p.Y1545Y|MYOF_ENST00000371502.4_Silent_p.Y1577Y	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1558	C2 5. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)	p.Y1558Y(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTCGAACAATGTAAATCCTAA	0.547																																						ENST00000371501.4																			1	Substitution - coding silent(1)	p.Y1558Y(1)	kidney(1)	NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(4672-4674)taC>taT		myoferlin							85.0	88.0	87.0					10																	95093560		2007	4192	6199	SO:0001819	synonymous_variant	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95093560G>A	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.4674C>T	10.37:g.95093560G>A			Somatic				MYOF_ENST00000359263.4_Silent_p.Y1558Y|MYOF_ENST00000371502.4_Silent_p.Y1577Y|MYOF_ENST00000358334.5_Silent_p.Y1545Y	p.Y1558Y			WXS	Illumina GAIIx	Phase_I	Q9NZM1	MYOF_HUMAN			42	4796	-			1558			C2 5.		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Silent	SNP	ENST00000359263.4	37	c.4674C>T	CCDS41551.1																																																																																				0.547	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		4	72	0	0	0	1	0	4	72				
SLC13A4	26266	broad.mit.edu	37	7	135370277	135370277	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr7:135370277C>T	ENST00000354042.4	-	14	2287	c.1598G>A	c.(1597-1599)tGc>tAc	p.C533Y	C7orf73_ENST00000422968.1_Intron|SLC13A4_ENST00000491630.1_5'UTR	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	533					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.C533Y(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						CACCAGGCTGCACAGGATGGG	0.612																																						ENST00000354042.4																			1	Substitution - Missense(1)	p.C533Y(1)	kidney(1)	breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1597-1599)tGc>tAc		solute carrier family 13 (sodium/sulfate symporter), member 4							123.0	107.0	112.0					7																	135370277		2203	4300	6503	SO:0001583	missense	26266					integral to plasma membrane	sodium:sulfate symporter activity	g.chr7:135370277C>T	AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"""Solute carriers"""	15827	protein-coding gene	gene with protein product	"""sulphate transporter 1"""	604309	"""solute carrier family 13 (sodium/sulphate symporters), member 4"""			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.1598G>A	7.37:g.135370277C>T	ENSP00000297282:p.Cys533Tyr		Somatic				C7orf73_ENST00000422968.1_Intron|SLC13A4_ENST00000491630.1_5'UTR	p.C533Y	NM_012450.2	NP_036582.2	WXS	Illumina GAIIx	Phase_I	Q9UKG4	S13A4_HUMAN			14	2287	-			533					A4D1Q4|Q8N631	Missense_Mutation	SNP	ENST00000354042.4	37	c.1598G>A	CCDS5840.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071970	0.76301	.	.	ENSG00000164707	ENST00000354042	T	0.02737	4.18	6.03	6.03	0.97812	.	0.047245	0.85682	D	0.000000	T	0.12092	0.0294	L	0.45581	1.43	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.975	T	0.00081	-1.2106	10	0.87932	D	0	.	18.0507	0.89347	0.0:1.0:0.0:0.0	.	402;533	Q59HF0;Q9UKG4	.;S13A4_HUMAN	Y	533	ENSP00000297282:C533Y	ENSP00000297282:C533Y	C	-	2	0	SLC13A4	135020817	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.070000	0.64376	2.861000	0.98227	0.655000	0.94253	TGC		0.612	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450		41	377	0	0	0	1	0	41	377				
KLHL32	114792	broad.mit.edu	37	6	97586995	97586995	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr6:97586995A>T	ENST00000369261.4	+	11	2064		c.e11-1		KLHL32_ENST00000539200.1_Splice_Site|KLHL32_ENST00000536676.1_Splice_Site|KLHL32_ENST00000544166.1_Splice_Site	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32											breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CCTCTTTTGTAGGTACTGGAT	0.383																																						ENST00000369261.4																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.e11-1		kelch-like family member 32							120.0	112.0	114.0					6																	97586995		2203	4300	6503	SO:0001630	splice_region_variant	114792							g.chr6:97586995A>T	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.1702-1A>T	6.37:g.97586995A>T			Somatic				KLHL32_ENST00000536676.1_Splice_Site|KLHL32_ENST00000544166.1_Splice_Site|KLHL32_ENST00000539200.1_Splice_Site		NM_052904.3	NP_443136.2	WXS	Illumina GAIIx	Phase_I	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	11	2064	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)						B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Splice_Site	SNP	ENST00000369261.4	37		CCDS5038.1	.	.	.	.	.	.	.	.	.	.	A	14.15	2.448299	0.43429	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000544166;ENST00000539200	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0145	0.80427	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLHL32	97693716	1.000000	0.71417	0.942000	0.38095	0.329000	0.28539	8.852000	0.92215	2.188000	0.69820	0.533000	0.62120	.		0.383	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904	Intron	5	152	0	0	0	1	0	5	152				
TTN	7273	broad.mit.edu	37	2	179582323	179582323	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:179582323G>A	ENST00000591111.1	-	85	24551	c.24327C>T	c.(24325-24327)caC>caT	p.H8109H	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.H8426H|TTN_ENST00000342992.6_Silent_p.H7182H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12300	Ig-like 63.				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)	p.H7182H(1)		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)			ACTGCCCTATGTGGCTCTGGT	0.423																																						ENST00000589042.1																			1	Substitution - coding silent(1)	p.H7182H(1)	kidney(1)	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.(25276-25278)caC>caT		titin							79.0	80.0	80.0					2																	179582323		1882	4122	6004	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179582323G>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.24327C>T	2.37:g.179582323G>A			Somatic				TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.H7182H|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.H8109H	p.H8426H	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		87	25502	-			8109			Ig-like 67.		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.25278C>T																																																																																					0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		25	49	0	0	0	1	0	25	49				
PGLYRP3	114771	broad.mit.edu	37	1	153274993	153274993	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:153274993A>G	ENST00000290722.1	-	5	672	c.620T>C	c.(619-621)aTc>aCc	p.I207T		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	207					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.I207T(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCGGTGTGGATGATGATGAC	0.483																																						ENST00000290722.1																			1	Substitution - Missense(1)	p.I207T(1)	kidney(1)	breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28						c.(619-621)aTc>aCc		peptidoglycan recognition protein 3							301.0	276.0	285.0					1																	153274993		2203	4300	6503	SO:0001583	missense	114771				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153274993A>G	AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I alpha precursor"""	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.620T>C	1.37:g.153274993A>G	ENSP00000290722:p.Ile207Thr		Somatic					p.I207T	NM_052891.1	NP_443123.1	WXS	Illumina GAIIx	Phase_I	Q96LB9	PGRP3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	672	-	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		207					A1A4U8|Q5SY65	Missense_Mutation	SNP	ENST00000290722.1	37	c.620T>C	CCDS1035.1	.	.	.	.	.	.	.	.	.	.	A	11.24	1.580587	0.28180	.	.	ENSG00000159527	ENST00000290722	T	0.13089	2.62	4.49	3.31	0.37934	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.216602	0.32041	N	0.006662	T	0.08447	0.0210	L	0.39566	1.225	0.29036	N	0.885413	P	0.52692	0.955	P	0.54889	0.763	T	0.10613	-1.0622	10	0.33940	T	0.23	-25.4653	6.8729	0.24131	0.8916:0.0:0.1084:0.0	.	207	Q96LB9	PGRP3_HUMAN	T	207	ENSP00000290722:I207T	ENSP00000290722:I207T	I	-	2	0	PGLYRP3	151541617	1.000000	0.71417	1.000000	0.80357	0.466000	0.32739	1.620000	0.36976	1.891000	0.54761	0.533000	0.62120	ATC		0.483	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039488.1	NM_052891		40	368	0	0	0	1	0	40	368				
SERPING1	710	broad.mit.edu	37	11	57379256	57379256	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr11:57379256C>T	ENST00000278407.4	+	7	1323	c.1096C>T	c.(1096-1098)Cgt>Tgt	p.R366C	SERPING1_ENST00000403558.1_Missense_Mutation_p.R409C|SERPING1_ENST00000378323.4_Missense_Mutation_p.R371C|SERPING1_ENST00000378324.2_Missense_Mutation_p.R314C|SERPING1_ENST00000340687.6_Intron	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	366					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CCTGAAACATCGTCTTGAAGA	0.493																																						ENST00000403558.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						c.(1225-1227)Cgt>Tgt		serpin peptidase inhibitor, clade G (C1 inhibitor), member 1							158.0	146.0	150.0					11																	57379256		2201	4296	6497	SO:0001583	missense	710				blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	g.chr11:57379256C>T	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.1096C>T	11.37:g.57379256C>T	ENSP00000278407:p.Arg366Cys		Somatic				SERPING1_ENST00000378324.2_Missense_Mutation_p.R314C|SERPING1_ENST00000378323.4_Missense_Mutation_p.R371C|SERPING1_ENST00000278407.4_Missense_Mutation_p.R366C|SERPING1_ENST00000340687.6_Intron	p.R409C	NM_001032295.1	NP_001027466.1	WXS	Illumina GAIIx	Phase_I	P05155	IC1_HUMAN			6	1591	+			366					A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Missense_Mutation	SNP	ENST00000278407.4	37	c.1225C>T	CCDS7962.1	.	.	.	.	.	.	.	.	.	.	C	9.580	1.123211	0.20959	.	.	ENSG00000149131	ENST00000278407;ENST00000378323;ENST00000378324;ENST00000403558	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	4.69	1.67	0.24075	Serpin domain (3);	2.097440	0.01653	N	0.024644	T	0.81437	0.4822	M	0.61703	1.905	0.09310	N	1	P;P	0.45634	0.863;0.863	B;B	0.16722	0.016;0.016	T	0.69892	-0.5022	10	0.87932	D	0	.	6.3105	0.21163	0.4675:0.4448:0.0:0.0876	.	371;366	B4E1F0;P05155	.;IC1_HUMAN	C	366;371;314;409	ENSP00000278407:R366C;ENSP00000367574:R371C;ENSP00000367575:R314C;ENSP00000384420:R409C	ENSP00000278407:R366C	R	+	1	0	SERPING1	57135832	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-0.083000	0.11286	0.132000	0.18615	0.561000	0.74099	CGT		0.493	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062		20	463	0	0	0	1	0	20	463				
SCFD1	23256	broad.mit.edu	37	14	31204790	31204790	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr14:31204790A>T	ENST00000458591.2	+	25	2132		c.e25-1		SCFD1_ENST00000544052.2_Splice_Site|SCFD1_ENST00000541123.1_Splice_Site|SCFD1_ENST00000396629.2_Splice_Site|RP11-159L20.2_ENST00000554665.1_RNA|SCFD1_ENST00000421551.3_Splice_Site	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1						post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		GTTTTGTTTTAGTTGTCACAA	0.264																																						ENST00000458591.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13						c.e25-1		sec1 family domain containing 1							100.0	105.0	103.0					14																	31204790		2203	4299	6502	SO:0001630	splice_region_variant	23256				post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding	g.chr14:31204790A>T	AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 163"""	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.1906-1A>T	14.37:g.31204790A>T			Somatic				RP11-159L20.2_ENST00000554665.1_RNA|SCFD1_ENST00000396629.2_Splice_Site|SCFD1_ENST00000544052.2_Splice_Site|SCFD1_ENST00000541123.1_Splice_Site|SCFD1_ENST00000421551.3_Splice_Site		NM_016106.3	NP_057190.2	WXS	Illumina GAIIx	Phase_I	Q8WVM8	SCFD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)	25	2132	+	Hepatocellular(127;0.0877)							A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Splice_Site	SNP	ENST00000458591.2	37		CCDS9639.1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.544490	0.45280	.	.	ENSG00000092108	ENST00000458591;ENST00000544052;ENST00000421551;ENST00000541123;ENST00000396629	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8058	0.63230	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SCFD1	30274541	1.000000	0.71417	0.993000	0.49108	0.550000	0.35303	5.521000	0.67086	2.295000	0.77249	0.523000	0.50628	.		0.264	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835	Intron	4	35	0	0	0	1	0	4	35				
R3HCC1L	27291	broad.mit.edu	37	10	99991267	99991267	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr10:99991267A>T	ENST00000298999.3	+	6	2088		c.e6-1		R3HCC1L_ENST00000314594.5_Splice_Site|R3HCC1L_ENST00000370586.2_Splice_Site|R3HCC1L_ENST00000370584.3_Splice_Site	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like								nucleotide binding (GO:0000166)										CTTCCTTTCTAGTTATCAGGG	0.378																																						ENST00000314594.5																			0											c.e7-1		R3H domain and coiled-coil containing 1-like							95.0	87.0	90.0					10																	99991267		2203	4300	6503	SO:0001630	splice_region_variant	27291							g.chr10:99991267A>T	AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 28"""	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.1786-1A>T	10.37:g.99991267A>T			Somatic				R3HCC1L_ENST00000370584.3_Splice_Site|R3HCC1L_ENST00000370586.2_Splice_Site|R3HCC1L_ENST00000298999.3_Splice_Site		NM_001256619.1	NP_001243548.1	WXS	Illumina GAIIx	Phase_I					7	2130	+								O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Splice_Site	SNP	ENST00000298999.3	37		CCDS31267.1	.	.	.	.	.	.	.	.	.	.	A	18.73	3.685861	0.68157	.	.	ENSG00000166024	ENST00000370584;ENST00000298999;ENST00000370586;ENST00000314594;ENST00000544834	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1559	0.72743	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C10orf28	99981257	1.000000	0.71417	0.997000	0.53966	0.846000	0.48090	4.807000	0.62576	2.214000	0.71695	0.533000	0.62120	.		0.378	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472	Intron	6	215	0	0	0	1	0	6	215				
CCDC129	223075	broad.mit.edu	37	7	31594091	31594091	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr7:31594091G>T	ENST00000407970.3	+	3	204	c.166G>T	c.(166-168)Gat>Tat	p.D56Y	CCDC129_ENST00000482748.1_3'UTR|CCDC129_ENST00000319386.3_Missense_Mutation_p.D56Y|CCDC129_ENST00000409210.1_5'UTR|CCDC129_ENST00000451887.2_Missense_Mutation_p.D82Y	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	56										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ACTTGTAGAAGATTCCAAGCA	0.423																																						ENST00000319386.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(166-168)Gat>Tat		coiled-coil domain containing 129							116.0	112.0	113.0					7																	31594091		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31594091G>T	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.166G>T	7.37:g.31594091G>T	ENSP00000384416:p.Asp56Tyr		Somatic				CCDC129_ENST00000451887.2_Missense_Mutation_p.D82Y|CCDC129_ENST00000407970.3_Missense_Mutation_p.D56Y|CCDC129_ENST00000482748.1_3'UTR|CCDC129_ENST00000409210.1_5'UTR	p.D56Y			WXS	Illumina GAIIx	Phase_I	Q6ZRS4	CC129_HUMAN			3	1159	+			56					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.166G>T	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	16.04	3.011362	0.54468	.	.	ENSG00000180347	ENST00000409717;ENST00000456011;ENST00000319386;ENST00000407970;ENST00000454513;ENST00000451887;ENST00000538406	T;T;T;T;T;T	0.53857	0.6;0.65;1.95;2.17;0.62;2.15	5.15	2.34	0.29019	.	0.304042	0.23746	N	0.044976	T	0.61874	0.2382	L	0.60455	1.87	0.24115	N	0.99583	D;D;D;D	0.89917	0.998;1.0;1.0;0.997	D;D;D;D	0.70016	0.935;0.967;0.943;0.912	T	0.49341	-0.8950	10	0.66056	D	0.02	-10.6921	6.2214	0.20683	0.3073:0.0:0.6927:0.0	.	82;66;56;56	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	Y	56;56;56;56;56;82;66	ENSP00000387220:D56Y;ENSP00000390544:D56Y;ENSP00000313062:D56Y;ENSP00000384416:D56Y;ENSP00000413233:D56Y;ENSP00000395835:D82Y	ENSP00000313062:D56Y	D	+	1	0	CCDC129	31560616	1.000000	0.71417	0.974000	0.42286	0.928000	0.56348	0.841000	0.27613	0.847000	0.35167	0.650000	0.86243	GAT		0.423	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		4	35	1	0	0.00198382	1	0.0020442	4	35				
RAB11FIP1	80223	broad.mit.edu	37	8	37732689	37732689	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr8:37732689G>T	ENST00000330843.4	-	3	978	c.966C>A	c.(964-966)aaC>aaA	p.N322K	RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.N322K|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.N174K|RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.N174K	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	322					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GGTAAACATGGTTCCCATTGA	0.502																																						ENST00000330843.4																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(964-966)aaC>aaA		RAB11 family interacting protein 1 (class I)							266.0	261.0	263.0					8																	37732689		2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37732689G>T	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.966C>A	8.37:g.37732689G>T	ENSP00000331342:p.Asn322Lys		Somatic				RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.N174K|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.N322K|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.N174K	p.N322K	NM_001002814.2	NP_001002814.2	WXS	Illumina GAIIx	Phase_I	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		3	978	-		Lung NSC(58;0.118)|all_lung(54;0.195)	322					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.966C>A	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164439	0.57476	.	.	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727;ENST00000524118	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.24	3.18	0.36537	.	0.250041	0.35040	N	0.003486	T	0.41627	0.1167	M	0.72118	2.19	0.37108	D	0.900222	D;P;D;D	0.65815	0.958;0.925;0.972;0.995	P;P;P;P	0.55112	0.63;0.621;0.737;0.769	T	0.49844	-0.8896	10	0.62326	D	0.03	-21.9127	6.2255	0.20706	0.3906:0.0:0.6094:0.0	.	174;174;322;322	E7EX40;Q6WKZ4-2;Q6WKZ4-3;Q6WKZ4	.;.;.;RFIP1_HUMAN	K	322;322;174;174	ENSP00000287263:N322K;ENSP00000331342:N322K;ENSP00000430009:N174K;ENSP00000430680:N174K	ENSP00000287263:N322K	N	-	3	2	RAB11FIP1	37851847	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	1.123000	0.31308	1.214000	0.43395	-0.136000	0.14681	AAC		0.502	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		8	1046	1	0	0.00307968	1	0.00315967	8	1046				
CNBP	7555	broad.mit.edu	37	3	128890023	128890023	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr3:128890023G>A	ENST00000422453.2	-	4	475	c.315C>T	c.(313-315)ggC>ggT	p.G105G	CNBP_ENST00000441626.2_Silent_p.G107G|CNBP_ENST00000502976.1_Silent_p.G98G|CNBP_ENST00000504813.1_Silent_p.G95G|CNBP_ENST00000451728.2_Silent_p.G106G|CNBP_ENST00000446936.2_Silent_p.G100G|CNBP_ENST00000500450.2_Silent_p.G88G	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	105					cholesterol biosynthetic process (GO:0006695)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.G105G(1)		biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						GAGCCAGATGGCCTGGTTTGC	0.502																																						ENST00000422453.2																			1	Substitution - coding silent(1)	p.G105G(1)	kidney(1)	biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						c.(313-315)ggC>ggT		CCHC-type zinc finger, nucleic acid binding protein							116.0	97.0	103.0					3																	128890023		2203	4300	6503	SO:0001819	synonymous_variant	7555				cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:128890023G>A	U19765	CCDS3056.1, CCDS46906.1, CCDS46907.1, CCDS46908.1, CCDS54637.1	3q21	2013-01-09	2006-06-29	2006-06-29				"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCHC domain containing"""	13164	protein-coding gene	gene with protein product		116955	"""zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)"", ""zinc finger protein 9"""	DM2, ZNF9		2249857, 11486088	Standard	NM_003418		Approved	RNF163, ZCCHC22, CNBP1	uc021xdw.1	P62633		ENST00000422453.2:c.315C>T	3.37:g.128890023G>A			Somatic				CNBP_ENST00000446936.2_Silent_p.G100G|CNBP_ENST00000504813.1_Silent_p.G95G|CNBP_ENST00000451728.2_Silent_p.G106G|CNBP_ENST00000500450.2_Silent_p.G88G|CNBP_ENST00000441626.2_Silent_p.G107G|CNBP_ENST00000502976.1_Silent_p.G98G	p.G105G	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	WXS	Illumina GAIIx	Phase_I	P62633	CNBP_HUMAN			4	475	-			105					A8K7V4|B2RAV9|B4DP17|D3DNB9|D3DNC0|D3DNC1|E9PDR7|P20694|Q4JGY0|Q4JGY1|Q5QJR0|Q5U0E9|Q6PJI7|Q96NV3	Silent	SNP	ENST00000422453.2	37	c.315C>T	CCDS3056.1	.	.	.	.	.	.	.	.	.	.	G	8.013	0.757872	0.15846	.	.	ENSG00000169714	ENST00000512338	.	.	.	5.52	4.65	0.58169	.	.	.	.	.	T	0.64416	0.2596	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66980	-0.5786	5	0.87932	D	0	-13.9427	7.7781	0.29049	0.0866:0.1637:0.7496:0.0	.	.	.	.	V	110	.	ENSP00000424787:A110V	A	-	2	0	CNBP	130372713	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.951000	0.40333	1.352000	0.45808	0.591000	0.81541	GCC		0.502	CNBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358419.1	NM_003418		115	158	0	0	0	1	0	115	158				
SEC16A	9919	broad.mit.edu	37	9	139369264	139369264	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr9:139369264T>C	ENST00000371706.3	-	1	2303	c.2270A>G	c.(2269-2271)gAg>gGg	p.E757G	SEC16A_ENST00000313050.7_Missense_Mutation_p.E935G|SEC16A_ENST00000290037.6_Missense_Mutation_p.E757G|SEC16A_ENST00000431893.2_Missense_Mutation_p.E757G			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	757					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.E935G(2)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		AACCAAGTTCTCTGGAACTGG	0.473																																						ENST00000313050.7																			2	Substitution - Missense(2)	p.E935G(2)	kidney(2)	breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2803-2805)gAg>gGg		SEC16 homolog A (S. cerevisiae)							99.0	97.0	98.0					9																	139369264		1885	4129	6014	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139369264T>C	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.2270A>G	9.37:g.139369264T>C	ENSP00000360771:p.Glu757Gly		Somatic				SEC16A_ENST00000371706.3_Missense_Mutation_p.E757G|SEC16A_ENST00000290037.6_Missense_Mutation_p.E757G|SEC16A_ENST00000431893.2_Missense_Mutation_p.E757G	p.E935G	NM_014866.1	NP_055681.1	WXS	Illumina GAIIx	Phase_I	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	1	2877	-		Myeloproliferative disorder(178;0.0511)	757			Pro-rich.|Required for endoplasmic reticulum localization.		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.2804A>G		.	.	.	.	.	.	.	.	.	.	T	8.556	0.876585	0.17395	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893	T;T;T;T	0.24350	1.86;1.87;1.87;1.87	4.88	-1.92	0.07618	.	1.636150	0.03170	N	0.170525	T	0.15522	0.0374	L	0.29908	0.895	0.09310	N	0.999999	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.11329	0.002;0.006;0.006	T	0.12863	-1.0531	10	0.23302	T	0.38	-1.4176	0.6289	0.00791	0.2987:0.2887:0.1224:0.2902	.	935;757;757	F1T0I1;O15027-5;O15027-4	.;.;.	G	935;757;757;757	ENSP00000325827:E935G;ENSP00000360771:E757G;ENSP00000290037:E757G;ENSP00000387583:E757G	ENSP00000290037:E757G	E	-	2	0	SEC16A	138489085	0.011000	0.17503	0.000000	0.03702	0.385000	0.30292	0.273000	0.18662	-0.408000	0.07565	-0.256000	0.11100	GAG		0.473	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		37	58	0	0	0	1	0	37	58				
CDCA7L	55536	broad.mit.edu	37	7	21941942	21941942	+	Nonstop_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr7:21941942A>T	ENST00000406877.3	-	10	1642	c.1363T>A	c.(1363-1365)Taa>Aaa	p.*455K	CDCA7L_ENST00000373934.4_Nonstop_Mutation_p.*409K|CDCA7L_ENST00000465490.1_5'Flank|CDCA7L_ENST00000356195.5_Nonstop_Mutation_p.*421K	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	0					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TTTTCCTCTTAATTGTCTTCT	0.378																																						ENST00000406877.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						c.(1363-1365)Taa>Aaa		cell division cycle associated 7-like							201.0	168.0	179.0					7																	21941942		2203	4300	6503	SO:0001578	stop_lost	55536				positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr7:21941942A>T		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.1363T>A	7.37:g.21941942A>T			Somatic				CDCA7L_ENST00000373934.4_Nonstop_Mutation_p.*409K|CDCA7L_ENST00000356195.5_Nonstop_Mutation_p.*421K	p.*455K	NM_018719.4	NP_061189.2	WXS	Illumina GAIIx	Phase_I	Q96GN5	CDA7L_HUMAN			10	1642	-			0					A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Nonstop_Mutation	SNP	ENST00000406877.3	37	c.1363T>A	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.282982	0.80692	.	.	ENSG00000164649	ENST00000356195;ENST00000406877;ENST00000373934	.	.	.	5.68	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5549	0.39332	0.9185:0.0:0.0815:0.0	.	.	.	.	K	421;455;409	.	.	X	-	1	0	CDCA7L	21908467	0.389000	0.25205	0.115000	0.21578	0.852000	0.48524	3.246000	0.51414	1.115000	0.41800	0.528000	0.53228	TAA		0.378	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719		4	78	0	0	0	1	0	4	78				
ZCCHC11	23318	broad.mit.edu	37	1	52903989	52903989	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:52903989T>A	ENST00000371544.3	-	25	4103	c.3841A>T	c.(3841-3843)Aga>Tga	p.R1281*	ZCCHC11_ENST00000257177.4_Nonsense_Mutation_p.R1281*	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1281					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GTTAATACTCTGGAATCAAAG	0.388																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(3841-3843)Aga>Tga		zinc finger, CCHC domain containing 11							131.0	126.0	128.0					1																	52903989		2203	4300	6503	SO:0001587	stop_gained	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52903989T>A	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.3841A>T	1.37:g.52903989T>A	ENSP00000360599:p.Arg1281*		Somatic				ZCCHC11_ENST00000257177.4_Nonsense_Mutation_p.R1281*	p.R1281*	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	WXS	Illumina GAIIx	Phase_I	Q5TAX3	TUT4_HUMAN			25	4103	-			1281					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Nonsense_Mutation	SNP	ENST00000371544.3	37	c.3841A>T	CCDS30716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	44|44	10.552256|10.552256	0.99426|0.99426	.|.	.|.	ENSG00000134744|ENSG00000134744	ENST00000474453|ENST00000257177;ENST00000371544;ENST00000531722	.|.	.|.	.|.	5.67|5.67	3.28|3.28	0.37604|0.37604	.|.	.|0.093166	.|0.64402	.|D	.|0.000001	T|.	0.45034|.	0.1322|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.12760|.	-1.0535|.	4|.	.|0.07990	.|T	.|0.79	.|.	12.5615|12.5615	0.56283|0.56283	0.0:0.0:0.2632:0.7368|0.0:0.0:0.2632:0.7368	.|.	.|.	.|.	.|.	L|X	130|1281;1281;123	.|.	.|ENSP00000257177:R1281X	Q|R	-|-	2|1	0|2	ZCCHC11|ZCCHC11	52676577|52676577	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.995000|0.995000	0.86356|0.86356	3.980000|3.980000	0.56895|0.56895	0.387000|0.387000	0.25024|0.25024	0.533000|0.533000	0.62120|0.62120	CAG|AGA		0.388	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		4	202	0	0	0	1	0	4	202				
NPR3	4883	broad.mit.edu	37	5	32780855	32780855	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr5:32780855C>T	ENST00000265074.8	+	5	1566	c.1223C>T	c.(1222-1224)gCc>gTc	p.A408V	AC026703.2_ENST00000607869.1_RNA|NPR3_ENST00000415685.2_Missense_Mutation_p.A192V|NPR3_ENST00000415167.2_Missense_Mutation_p.A408V|NPR3_ENST00000434067.2_Missense_Mutation_p.A192V	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	408					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TCCATAGATGCCAACGGAGAC	0.517																																						ENST00000265074.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(1222-1224)gCc>gTc		natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	Nesiritide(DB04899)						158.0	172.0	168.0					5																	32780855		2174	4274	6448	SO:0001583	missense	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32780855C>T		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.1223C>T	5.37:g.32780855C>T	ENSP00000265074:p.Ala408Val		Somatic				NPR3_ENST00000434067.2_Missense_Mutation_p.A192V|NPR3_ENST00000415685.2_Missense_Mutation_p.A192V|NPR3_ENST00000415167.2_Missense_Mutation_p.A408V	p.A408V	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	WXS	Illumina GAIIx	Phase_I	P17342	ANPRC_HUMAN			5	1566	+			408					A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.1223C>T	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368125	0.82463	.	.	ENSG00000113389	ENST00000509104;ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77	5.65	5.65	0.86999	Extracellular ligand-binding receptor (1);	0.155075	0.56097	D	0.000023	T	0.80874	0.4707	M	0.64997	1.995	0.43965	D	0.996646	P;P;P;P	0.38677	0.457;0.517;0.642;0.642	B;B;B;B	0.32211	0.106;0.142;0.141;0.141	T	0.79766	-0.1665	10	0.33940	T	0.23	-14.2457	20.0887	0.97806	0.0:1.0:0.0:0.0	.	192;192;408;408	E7EPG9;B4DT84;P17342;Q60I31	.;.;ANPRC_HUMAN;.	V	185;192;192;408;408	ENSP00000425325:A185V;ENSP00000388408:A192V;ENSP00000402490:A192V;ENSP00000265074:A408V;ENSP00000398028:A408V	ENSP00000265074:A408V	A	+	2	0	NPR3	32816612	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	2.824000	0.48088	2.825000	0.97269	0.655000	0.94253	GCC		0.517	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		54	272	0	0	0	1	0	54	272				
DIAPH1	1729	broad.mit.edu	37	5	140954715	140954715	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr5:140954715T>A	ENST00000398557.4	-	15	1602		c.e15-2		DIAPH1_ENST00000398566.3_Splice_Site|DIAPH1_ENST00000389054.3_Splice_Site|DIAPH1_ENST00000520569.1_Splice_Site|DIAPH1_ENST00000398562.2_Splice_Site|DIAPH1_ENST00000253811.6_Splice_Site|DIAPH1_ENST00000389057.5_Splice_Site|DIAPH1_ENST00000518047.1_Splice_Site	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1						actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGTCCAACTAGAGAAAAAA	0.443																																						ENST00000253811.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.e15-2		diaphanous-related formin 1							98.0	87.0	91.0					5																	140954715		1875	4115	5990	SO:0001630	splice_region_variant	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140954715T>A	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.1462-2A>T	5.37:g.140954715T>A			Somatic				DIAPH1_ENST00000520569.1_Splice_Site|DIAPH1_ENST00000398566.3_Splice_Site|DIAPH1_ENST00000398562.2_Splice_Site|DIAPH1_ENST00000398557.4_Splice_Site|DIAPH1_ENST00000518047.1_Splice_Site|DIAPH1_ENST00000389057.5_Splice_Site|DIAPH1_ENST00000389054.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		15	1602	-								A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Splice_Site	SNP	ENST00000398557.4	37		CCDS43374.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.251848	0.80135	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6232	0.76824	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DIAPH1	140934899	1.000000	0.71417	0.993000	0.49108	0.839000	0.47603	6.570000	0.73996	2.326000	0.78906	0.533000	0.62120	.		0.443	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219	Intron	7	389	0	0	0	1	0	7	389				
NOL4	8715	broad.mit.edu	37	18	31523066	31523066	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr18:31523066C>A	ENST00000261592.5	-	9	1802	c.1505G>T	c.(1504-1506)aGa>aTa	p.R502I	NOL4_ENST00000535384.1_Missense_Mutation_p.R217I|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000538587.1_Missense_Mutation_p.R428I|NOL4_ENST00000535475.1_Missense_Mutation_p.R283I|NOL4_ENST00000269185.4_Intron	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	502						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GGCGGCATTTCTACTCTCACT	0.428																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1504-1506)aGa>aTa		nucleolar protein 4							104.0	94.0	97.0					18																	31523066		2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31523066C>A	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1505G>T	18.37:g.31523066C>A	ENSP00000261592:p.Arg502Ile		Somatic				NOL4_ENST00000538587.1_Missense_Mutation_p.R428I|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000535475.1_Missense_Mutation_p.R283I|NOL4_ENST00000535384.1_Missense_Mutation_p.R217I|NOL4_ENST00000269185.4_Intron	p.R502I	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	WXS	Illumina GAIIx	Phase_I	O94818	NOL4_HUMAN			9	1802	-			502					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.1505G>T	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696646	0.88830	.	.	ENSG00000101746	ENST00000261592;ENST00000399171;ENST00000535384;ENST00000535475;ENST00000538587	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.78767	0.4335	M	0.62723	1.935	0.80722	D	1	D;P;D;D;P;P	0.69078	0.997;0.928;0.963;0.985;0.928;0.843	D;P;P;D;P;B	0.80764	0.994;0.855;0.795;0.911;0.855;0.437	T	0.78868	-0.2034	9	0.72032	D	0.01	-17.5716	20.2049	0.98273	0.0:1.0:0.0:0.0	.	187;217;428;502;217;283	F8W825;B7Z3Z7;B4DSQ0;O94818;F5H1E3;B3KRF4	.;.;.;NOL4_HUMAN;.;.	I	502;187;217;283;428	.	ENSP00000261592:R502I	R	-	2	0	NOL4	29777064	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	6.830000	0.75319	2.772000	0.95346	0.650000	0.86243	AGA		0.428	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		6	179	1	0	0.000274275	1	0.000286358	6	179				
PARN	5073	broad.mit.edu	37	16	14676140	14676140	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr16:14676140C>A	ENST00000437198.2	-	17	1231	c.1090G>T	c.(1090-1092)Gaa>Taa	p.E364*	PARN_ENST00000539279.1_Nonsense_Mutation_p.E189*|PARN_ENST00000420015.2_Nonsense_Mutation_p.E318*|PARN_ENST00000341484.7_Nonsense_Mutation_p.E303*	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	364					female gamete generation (GO:0007292)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						GGAAAACCTTCGGCACTTTCT	0.423																																						ENST00000437198.2																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						c.(1090-1092)Gaa>Taa		poly(A)-specific ribonuclease							177.0	166.0	169.0					16																	14676140		1885	4112	5997	SO:0001587	stop_gained	5073				female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding	g.chr16:14676140C>A	AJ005698	CCDS45419.1, CCDS45420.1, CCDS58425.1	16p13	2014-08-08	2011-07-07		ENSG00000140694	ENSG00000140694	3.1.13.4		8609	protein-coding gene	gene with protein product	"""deadenylation nuclease"""	604212	"""poly(A)-specific ribonuclease (deadenylation nuclease)"""			10640832	Standard	NM_002582		Approved	DAN	uc010uzd.2	O95453	OTTHUMG00000173199	ENST00000437198.2:c.1090G>T	16.37:g.14676140C>A	ENSP00000387911:p.Glu364*		Somatic				PARN_ENST00000341484.7_Nonsense_Mutation_p.E303*|PARN_ENST00000420015.2_Nonsense_Mutation_p.E318*|PARN_ENST00000539279.1_Nonsense_Mutation_p.E189*	p.E364*	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	WXS	Illumina GAIIx	Phase_I	O95453	PARN_HUMAN			17	1231	-			364					B2RCB3|B4DDG8|B4DWR4|B4E1H6	Nonsense_Mutation	SNP	ENST00000437198.2	37	c.1090G>T	CCDS45419.1	.	.	.	.	.	.	.	.	.	.	C	38	6.645706	0.97730	.	.	ENSG00000140694	ENST00000437198;ENST00000341484;ENST00000420015;ENST00000539279	.	.	.	5.68	4.74	0.60224	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-17.6414	13.4651	0.61249	0.0:0.9241:0.0:0.0759	.	.	.	.	X	364;303;318;189	.	ENSP00000345456:E303X	E	-	1	0	PARN	14583641	1.000000	0.71417	0.996000	0.52242	0.922000	0.55478	5.801000	0.69115	1.403000	0.46800	0.563000	0.77884	GAA		0.423	PARN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422383.1	NM_002582		4	533	1	0	0.014758	1	0.0148836	4	533				
ANKFY1	51479	broad.mit.edu	37	17	4085547	4085547	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr17:4085547G>A	ENST00000341657.4	-	15	2085	c.2050C>T	c.(2050-2052)Cca>Tca	p.P684S	ANKFY1_ENST00000574367.1_Missense_Mutation_p.P685S|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000573722.1_5'Flank|ANKFY1_ENST00000570535.1_Missense_Mutation_p.P726S	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	684	Interaction with RHOD and RAB5A. {ECO:0000269|PubMed:24102721}.				endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TTCTCATCTGGCACAGACATG	0.567																																						ENST00000341657.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2050-2052)Cca>Tca		ankyrin repeat and FYVE domain containing 1							134.0	134.0	134.0					17																	4085547		2012	4167	6179	SO:0001583	missense	51479					endosome membrane	metal ion binding|protein binding	g.chr17:4085547G>A	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.2050C>T	17.37:g.4085547G>A	ENSP00000343362:p.Pro684Ser		Somatic				ANKFY1_ENST00000574367.1_Missense_Mutation_p.P685S|ANKFY1_ENST00000570535.1_Missense_Mutation_p.P726S|CYB5D2_ENST00000573984.1_Intron	p.P684S	NM_016376.3	NP_057460.3	WXS	Illumina GAIIx	Phase_I	Q9P2R3	ANFY1_HUMAN			15	2085	-			684					A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	ENST00000341657.4	37	c.2050C>T		.	.	.	.	.	.	.	.	.	.	G	11.03	1.518471	0.27211	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	.	.	.	5.61	3.59	0.41128	Ankyrin repeat-containing domain (3);	0.197507	0.45361	D	0.000361	T	0.28167	0.0695	N	0.16602	0.42	0.80722	D	1	B;B;B;B	0.24317	0.0;0.101;0.082;0.0	B;B;B;B	0.22152	0.001;0.038;0.023;0.001	T	0.05784	-1.0864	9	0.07990	T	0.79	-2.6997	5.5006	0.16827	0.075:0.1415:0.6367:0.1467	.	626;684;685;726	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	S	685;626	.	ENSP00000343362:P685S	P	-	1	0	ANKFY1	4032296	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	2.260000	0.43267	0.706000	0.31912	0.650000	0.86243	CCA		0.567	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376		4	424	0	0	0	1	0	4	424				
SLC7A8	23428	broad.mit.edu	37	14	23597394	23597394	+	Silent	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr14:23597394C>G	ENST00000316902.7	-	10	2000	c.1275G>C	c.(1273-1275)ctG>ctC	p.L425L	SLC7A8_ENST00000529705.2_Silent_p.L320L|SLC7A8_ENST00000422941.2_Silent_p.L201L|SLC7A8_ENST00000469263.1_Intron|SLC7A8_ENST00000453702.1_Silent_p.L222L	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	425					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)	p.L425L(1)		autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	TGATGGGGAACAGCAGGTTGA	0.582																																						ENST00000316902.7																			1	Substitution - coding silent(1)	p.L425L(1)	kidney(1)	autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24						c.(1273-1275)ctG>ctC		solute carrier family 7 (amino acid transporter light chain, L system), member 8	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)						160.0	138.0	145.0					14																	23597394		2203	4300	6503	SO:0001819	synonymous_variant	23428				blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity	g.chr14:23597394C>G	Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"""Solute carriers"""	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.1275G>C	14.37:g.23597394C>G			Somatic				SLC7A8_ENST00000422941.2_Silent_p.L201L|SLC7A8_ENST00000529705.2_Silent_p.L320L|SLC7A8_ENST00000469263.1_Intron|SLC7A8_ENST00000453702.1_Silent_p.L222L	p.L425L	NM_012244.3	NP_036376.2	WXS	Illumina GAIIx	Phase_I	Q9UHI5	LAT2_HUMAN		GBM - Glioblastoma multiforme(265;0.00809)	10	2000	-	all_cancers(95;4.6e-05)		425					B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Silent	SNP	ENST00000316902.7	37	c.1275G>C	CCDS9590.1																																																																																				0.582	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3			27	100	0	0	0	1	0	27	100				
FLRT2	23768	broad.mit.edu	37	14	86089641	86089641	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr14:86089641A>T	ENST00000330753.4	+	2	2550	c.1783A>T	c.(1783-1785)Aag>Tag	p.K595*	FLRT2_ENST00000554746.1_Nonsense_Mutation_p.K595*	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	595					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.K595*(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AGGCACCAAGAAGGACAACTC	0.478																																						ENST00000330753.4																			1	Substitution - Nonsense(1)	p.K595*(1)	kidney(1)	NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(1783-1785)Aag>Tag		fibronectin leucine rich transmembrane protein 2							111.0	118.0	116.0					14																	86089641		2203	4300	6503	SO:0001587	stop_gained	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089641A>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1783A>T	14.37:g.86089641A>T	ENSP00000332879:p.Lys595*		Somatic				FLRT2_ENST00000554746.1_Nonsense_Mutation_p.K595*	p.K595*	NM_013231.4	NP_037363.1	WXS	Illumina GAIIx	Phase_I	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	2550	+			595					A0AV84|B7ZLP3	Nonsense_Mutation	SNP	ENST00000330753.4	37	c.1783A>T	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	A	46	12.291422	0.99654	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.5994	16.8222	0.85835	1.0:0.0:0.0:0.0	.	.	.	.	X	595;595;248	.	ENSP00000332879:K595X	K	+	1	0	FLRT2	85159394	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.338000	0.96553	2.371000	0.80710	0.533000	0.62120	AAG		0.478	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			64	87	0	0	0	1	0	64	87				
TNIK	23043	broad.mit.edu	37	3	170802039	170802039	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr3:170802039A>T	ENST00000436636.2	-	26	3418	c.3074T>A	c.(3073-3075)gTa>gAa	p.V1025E	TNIK_ENST00000475336.1_Missense_Mutation_p.V933E|TNIK_ENST00000284483.8_Missense_Mutation_p.V1017E|TNIK_ENST00000369326.5_Missense_Mutation_p.V1003E|TNIK_ENST00000470834.1_Missense_Mutation_p.V988E|TNIK_ENST00000357327.5_Missense_Mutation_p.V996E|TNIK_ENST00000538048.1_Missense_Mutation_p.V977E|TNIK_ENST00000341852.6_Missense_Mutation_p.V941E|TNIK_ENST00000460047.1_Missense_Mutation_p.V962E|TNIK_ENST00000488470.1_Missense_Mutation_p.V970E	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1025	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GGTTGGGTTTACATTTACCAC	0.408																																						ENST00000436636.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(3073-3075)gTa>gAa		TRAF2 and NCK interacting kinase							143.0	139.0	140.0					3																	170802039		1863	4105	5968	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170802039A>T	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3074T>A	3.37:g.170802039A>T	ENSP00000399511:p.Val1025Glu		Somatic				TNIK_ENST00000488470.1_Missense_Mutation_p.V970E|TNIK_ENST00000369326.5_Missense_Mutation_p.V1003E|TNIK_ENST00000357327.5_Missense_Mutation_p.V996E|TNIK_ENST00000341852.6_Missense_Mutation_p.V941E|TNIK_ENST00000284483.8_Missense_Mutation_p.V1017E|TNIK_ENST00000538048.1_Missense_Mutation_p.V977E|TNIK_ENST00000475336.1_Missense_Mutation_p.V933E|TNIK_ENST00000470834.1_Missense_Mutation_p.V988E|TNIK_ENST00000460047.1_Missense_Mutation_p.V962E	p.V1025E	NM_015028.2	NP_055843.1	WXS	Illumina GAIIx	Phase_I	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		26	3418	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		1025			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.3074T>A	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.168451	0.78339	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	D;D;D;D;D;D;D;D;D;D	0.82711	-1.59;-1.59;-1.63;-1.61;-1.59;-1.6;-1.6;-1.64;-1.64;-1.59	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.91643	0.7359	M	0.82193	2.58	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.994;1.0;0.994;0.994;1.0;1.0;0.994;0.995	D;D;D;D;D;D;D;D	0.91635	0.986;0.998;0.986;0.986;0.999;0.998;0.986;0.94	D	0.92797	0.6253	10	0.87932	D	0	.	16.16	0.81698	1.0:0.0:0.0:0.0	.	933;988;962;941;1017;996;970;1025	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	E	1025;1003;977;941;1017;933;996;962;970;988	ENSP00000399511:V1025E;ENSP00000358332:V1003E;ENSP00000443278:V977E;ENSP00000345352:V941E;ENSP00000284483:V1017E;ENSP00000418156:V933E;ENSP00000349880:V996E;ENSP00000418916:V962E;ENSP00000418378:V970E;ENSP00000419990:V988E	ENSP00000284483:V1017E	V	-	2	0	TNIK	172284733	1.000000	0.71417	0.789000	0.31954	0.508000	0.34012	8.905000	0.92613	2.266000	0.75297	0.528000	0.53228	GTA		0.408	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		4	134	0	0	0	1	0	4	134				
GUF1	60558	broad.mit.edu	37	4	44696427	44696427	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr4:44696427A>T	ENST00000281543.5	+	14	1807		c.e14-1		RP11-700J17.1_ENST00000610260.1_RNA|GUF1_ENST00000506793.1_Splice_Site	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						TTTTCCTTTTAGTTTTGATTA	0.343																																						ENST00000281543.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.e14-1		GUF1 GTPase homolog (S. cerevisiae)							80.0	81.0	81.0					4																	44696427		2203	4297	6500	SO:0001630	splice_region_variant	60558				translation	mitochondrial inner membrane	GTP binding|GTPase activity	g.chr4:44696427A>T		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.1614-1A>T	4.37:g.44696427A>T			Somatic				GUF1_ENST00000506793.1_Splice_Site		NM_021927.2	NP_068746.2	WXS	Illumina GAIIx	Phase_I	Q8N442	GUF1_HUMAN			14	1807	+									Splice_Site	SNP	ENST00000281543.5	37		CCDS3468.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.789302	0.49997	.	.	ENSG00000151806	ENST00000281543	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6308	0.68655	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GUF1	44391184	1.000000	0.71417	0.956000	0.39512	0.701000	0.40568	8.881000	0.92415	2.055000	0.61198	0.482000	0.46254	.		0.343	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927	Intron	3	27	0	0	0	1	0	3	27				
TST	7263	broad.mit.edu	37	22	37414210	37414210	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr22:37414210G>C	ENST00000403892.3	-	1	1298	c.564C>G	c.(562-564)ttC>ttG	p.F188L	MPST_ENST00000397129.1_5'Flank|TST_ENST00000249042.3_Missense_Mutation_p.F188L|MPST_ENST00000401419.3_5'Flank|MPST_ENST00000429360.2_5'Flank|MPST_ENST00000341116.3_5'Flank|MPST_ENST00000404393.1_5'Flank|MPST_ENST00000404802.3_5'Flank	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	188	Rhodanese 2. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cellular nitrogen compound metabolic process (GO:0034641)|cyanate catabolic process (GO:0009440)|epithelial cell differentiation (GO:0030855)|rRNA import into mitochondrion (GO:0035928)|rRNA transport (GO:0051029)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|thiosulfate sulfurtransferase activity (GO:0004792)	p.F188L(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						CGGTGCCCAGGAACCGCCCTT	0.592																																						ENST00000403892.3																			1	Substitution - Missense(1)	p.F188L(1)	kidney(1)	kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(562-564)ttC>ttG		thiosulfate sulfurtransferase (rhodanese)							31.0	29.0	30.0					22																	37414210		2203	4300	6503	SO:0001583	missense	7263				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity	g.chr22:37414210G>C	Z73420	CCDS13938.1	22q13.1	2002-02-05			ENSG00000128311	ENSG00000128311	2.8.1.1		12388	protein-coding gene	gene with protein product		180370				1953758	Standard	NM_003312		Approved	RDS	uc003aqh.4	Q16762	OTTHUMG00000150533	ENST00000403892.3:c.564C>G	22.37:g.37414210G>C	ENSP00000385828:p.Phe188Leu		Somatic				TST_ENST00000249042.3_Missense_Mutation_p.F188L	p.F188L	NM_001270483.1	NP_001257412.1	WXS	Illumina GAIIx	Phase_I	Q16762	THTR_HUMAN			1	1298	-			188			Rhodanese 2.		B3KRM1|Q6IB06	Missense_Mutation	SNP	ENST00000403892.3	37	c.564C>G	CCDS13938.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245532	0.80024	.	.	ENSG00000128311	ENST00000403892;ENST00000249042;ENST00000413912	T;T	0.31247	1.5;1.5	4.93	4.93	0.64822	Rhodanese-like (5);	0.108407	0.64402	D	0.000007	T	0.70570	0.3239	H	0.99143	4.445	0.53005	D	0.999968	D	0.65815	0.995	D	0.69479	0.964	T	0.82182	-0.0584	10	0.87932	D	0	-22.303	12.0764	0.53647	0.0908:0.0:0.9092:0.0	.	188	Q16762	THTR_HUMAN	L	188	ENSP00000385828:F188L;ENSP00000249042:F188L	ENSP00000249042:F188L	F	-	3	2	TST	35744156	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.763000	0.55257	2.262000	0.75019	0.511000	0.50034	TTC		0.592	TST-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318790.1			2	2	0	0	0	1	0	2	2				
FAM221A	340277	broad.mit.edu	37	7	23731091	23731091	+	Silent	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr7:23731091T>A	ENST00000344962.4	+	4	602	c.513T>A	c.(511-513)acT>acA	p.T171T	FAM221A_ENST00000409192.3_Silent_p.T171T|FAM221A_ENST00000409994.3_Silent_p.T113T|FAM221A_ENST00000409653.1_Silent_p.T113T	NM_199136.3	NP_954587.2	A4D161	F221A_HUMAN	family with sequence similarity 221, member A	171																	TAGTGGAAACTAAGCAAGAAA	0.478																																						ENST00000344962.4																			0											c.(511-513)acT>acA		family with sequence similarity 221, member A							159.0	146.0	151.0					7																	23731091		2203	4300	6503	SO:0001819	synonymous_variant	340277							g.chr7:23731091T>A		CCDS5385.1, CCDS47561.1, CCDS47562.1, CCDS75570.1	7p15.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000188732	ENSG00000188732			27977	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 46"""	C7orf46		12477932	Standard	XR_242080		Approved	FLJ45875, MGC72075, DKFZp686F0810	uc003swo.4	A4D161	OTTHUMG00000128463	ENST00000344962.4:c.513T>A	7.37:g.23731091T>A			Somatic				FAM221A_ENST00000409653.1_Silent_p.T113T|FAM221A_ENST00000409192.3_Silent_p.T171T|FAM221A_ENST00000409994.3_Silent_p.T113T	p.T171T	NM_199136.3	NP_954587.2	WXS	Illumina GAIIx	Phase_I	A4D161	CG046_HUMAN			4	602	+			171					Q05CG4|Q4G0Q7|Q6P519	Silent	SNP	ENST00000344962.4	37	c.513T>A	CCDS5385.1																																																																																				0.478	FAM221A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250261.1	NM_199136		7	388	0	0	0	1	0	7	388				
VWA3B	200403	broad.mit.edu	37	2	98887143	98887143	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:98887143A>T	ENST00000477737.1	+	22	3047		c.e22-1		VWA3B_ENST00000490947.2_Splice_Site	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B											NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						tttgtttTTTAGGTTAGATGC	0.318																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.e22-1		von Willebrand factor A domain containing 3B							58.0	56.0	57.0					2																	98887143		1807	4074	5881	SO:0001630	splice_region_variant	200403							g.chr2:98887143A>T	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2844-1A>T	2.37:g.98887143A>T			Somatic				VWA3B_ENST00000490947.2_Splice_Site		NM_144992.4	NP_659429.4	WXS	Illumina GAIIx	Phase_I	Q502W6	VWA3B_HUMAN			22	3047	+								B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Splice_Site	SNP	ENST00000477737.1	37		CCDS42718.1	.	.	.	.	.	.	.	.	.	.	A	16.01	3.001228	0.54254	.	.	ENSG00000168658	ENST00000477737;ENST00000473149;ENST00000358269	.	.	.	4.36	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4525	0.50160	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VWA3B	98253575	0.997000	0.39634	0.891000	0.34965	0.806000	0.45545	4.563000	0.60823	1.958000	0.56883	0.533000	0.62120	.		0.318	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992	Intron	5	86	0	0	0	1	0	5	86				
COL5A2	1290	broad.mit.edu	37	2	189914113	189914113	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:189914113G>A	ENST00000374866.3	-	44	3381	c.3107C>T	c.(3106-3108)cCc>cTc	p.P1036L		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1036					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.P1036L(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGAGCCTGGGGGCCCCACAGG	0.458																																						ENST00000374866.3																			1	Substitution - Missense(1)	p.P1036L(1)	kidney(1)	NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(3106-3108)cCc>cTc		collagen, type V, alpha 2							58.0	56.0	57.0					2																	189914113		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189914113G>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3107C>T	2.37:g.189914113G>A	ENSP00000364000:p.Pro1036Leu		Somatic					p.P1036L	NM_000393.3	NP_000384.2	WXS	Illumina GAIIx	Phase_I	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		44	3381	-			1036					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.3107C>T	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941279	0.34283	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.96685	-4.09	5.6	5.6	0.85130	.	0.328616	0.22606	N	0.057889	D	0.93220	0.7840	L	0.50847	1.595	0.21782	N	0.999545	B;B	0.06786	0.0;0.001	B;B	0.11329	0.001;0.006	T	0.82176	-0.0587	9	.	.	.	.	9.0076	0.36122	0.0749:0.0:0.767:0.1581	.	676;1036	Q5PR22;P05997	.;CO5A2_HUMAN	L	1036;676	ENSP00000364000:P1036L	.	P	-	2	0	COL5A2	189622358	1.000000	0.71417	0.992000	0.48379	0.854000	0.48673	3.770000	0.55310	2.932000	0.99384	0.644000	0.83932	CCC		0.458	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		10	14	0	0	0	1	0	10	14				
ALG10	84920	broad.mit.edu	37	12	34178919	34178919	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr12:34178919A>T	ENST00000266483.2	+	3	810	c.491A>T	c.(490-492)tAt>tTt	p.Y164F	RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron|AC046130.1_ENST00000401300.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	164					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				CTTTTTGCGTATTTGATGTGT	0.343																																						ENST00000266483.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(490-492)tAt>tTt		ALG10, alpha-1,2-glucosyltransferase							205.0	208.0	207.0					12																	34178919		2203	4299	6502	SO:0001583	missense	84920				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:34178919A>T	AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"""derepression of ITR1 expression 2 homolog (S. cerevisiae)"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""	603313	"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)"", ""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"""				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.491A>T	12.37:g.34178919A>T	ENSP00000266483:p.Tyr164Phe		Somatic				ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	p.Y164F	NM_032834.3	NP_116223.3	WXS	Illumina GAIIx	Phase_I	Q5BKT4	AG10A_HUMAN			3	810	+	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)	164					Q6NS98|Q96DU0|Q96SM6	Missense_Mutation	SNP	ENST00000266483.2	37	c.491A>T	CCDS41769.1	.	.	.	.	.	.	.	.	.	.	A	17.08	3.297657	0.60086	.	.	ENSG00000139133	ENST00000266483	T	0.57907	0.37	3.13	3.13	0.36017	.	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	M	0.73430	2.235	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67397	-0.5681	10	0.42905	T	0.14	.	9.6518	0.39902	1.0:0.0:0.0:0.0	.	164	Q5BKT4	AG10A_HUMAN	F	164	ENSP00000266483:Y164F	ENSP00000266483:Y164F	Y	+	2	0	ALG10	34070186	1.000000	0.71417	0.993000	0.49108	0.746000	0.42486	8.928000	0.92853	1.223000	0.43536	0.155000	0.16302	TAT		0.343	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403309.1	NM_032834		5	220	0	0	0	1	0	5	220				
ABCA13	154664	broad.mit.edu	37	7	48411763	48411763	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr7:48411763A>T	ENST00000435803.1	+	33	10827		c.e33-1			NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13						transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCTTTTTGGTAGTATATGCGG	0.468																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.e33-1		ATP-binding cassette, sub-family A (ABC1), member 13							123.0	114.0	117.0					7																	48411763		1970	4145	6115	SO:0001630	splice_region_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48411763A>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.10804-1A>T	7.37:g.48411763A>T			Somatic						NM_152701.3	NP_689914.2	WXS	Illumina GAIIx	Phase_I	Q86UQ4	ABCAD_HUMAN			33	10827	+								K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Splice_Site	SNP	ENST00000435803.1	37		CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	12.98	2.100703	0.37048	.	.	ENSG00000179869	ENST00000435803	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5635	0.76269	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCA13	48382309	1.000000	0.71417	0.963000	0.40424	0.101000	0.19017	8.023000	0.88764	2.326000	0.78906	0.533000	0.62120	.		0.468	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	Intron	4	121	0	0	0	1	0	4	121				
SEC22B	9554	broad.mit.edu	37	1	145109560	145109560	+	RNA	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:145109560A>T	ENST00000453618.1	+	0	549							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											ATTTGGTTTTATGTGAAGCTG	0.418																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)							395.0	384.0	388.0					1																	145109560		2042	4195	6237			9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109560A>T	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109560A>T			Somatic								WXS	Illumina GAIIx	Phase_I	O75396	SC22B_HUMAN			0	549	+								A8K1G0	RNA	SNP	ENST00000453618.1	37																																																																																						0.418	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		7	666	0	0	0	1	0	7	666				
FLG	2312	broad.mit.edu	37	1	152279938	152279938	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:152279938C>G	ENST00000368799.1	-	3	7459	c.7424G>C	c.(7423-7425)gGa>gCa	p.G2475A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2475	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G2475A(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTAGTGGGATCCCTGCCTTCC	0.577									Ichthyosis																													ENST00000368799.1																			1	Substitution - Missense(1)	p.G2475A(1)	kidney(1)	autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(7423-7425)gGa>gCa		filaggrin							368.0	340.0	349.0					1																	152279938		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279938C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7424G>C	1.37:g.152279938C>G	ENSP00000357789:p.Gly2475Ala		Somatic				FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.G2475A	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7459	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2475			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.7424G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241438	0.22711	.	.	ENSG00000143631	ENST00000368799	T	0.07114	3.22	3.41	-0.305	0.12784	.	.	.	.	.	T	0.05914	0.0154	M	0.82517	2.595	0.09310	N	1	D	0.55172	0.97	P	0.48704	0.587	T	0.28522	-1.0041	9	0.22109	T	0.4	.	6.3157	0.21188	0.0:0.5924:0.0:0.4076	.	2475	P20930	FILA_HUMAN	A	2475	ENSP00000357789:G2475A	ENSP00000357789:G2475A	G	-	2	0	FLG	150546562	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.244000	0.00542	0.000000	0.14550	0.306000	0.20318	GGA		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		123	500	0	0	0	1	0	123	500				
NPY2R	4887	broad.mit.edu	37	4	156135042	156135042	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr4:156135042A>T	ENST00000329476.3	+	2	441		c.e2-1		NPY2R_ENST00000506608.1_Splice_Site	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	ttTTCTTTTTAGGTTGTAGAC	0.398																																						ENST00000329476.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36						c.e2-1		neuropeptide Y receptor Y2							44.0	46.0	45.0					4																	156135042		2202	4298	6500	SO:0001630	splice_region_variant	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156135042A>T	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.-48-1A>T	4.37:g.156135042A>T			Somatic				NPY2R_ENST00000506608.1_Splice_Site		NM_000910.2	NP_000901.1	WXS	Illumina GAIIx	Phase_I	P49146	NPY2R_HUMAN			2	441	+	all_hematologic(180;0.24)	Renal(120;0.0854)						Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Splice_Site	SNP	ENST00000329476.3	37		CCDS3791.1																																																																																				0.398	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910	Intron	6	35	0	0	0	1	0	6	35				
MDC1	9656	broad.mit.edu	37	6	30681890	30681890	+	Silent	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr6:30681890T>C	ENST00000376406.3	-	3	854	c.207A>G	c.(205-207)ccA>ccG	p.P69P	MDC1_ENST00000376405.2_Silent_p.P69P|MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000494654.1_5'Flank	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	69	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.|Interaction with CHEK2.|Interaction with the MRN complex.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TGGAGATAGATGGAAAGGGCA	0.488								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(205-207)ccA>ccG	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							91.0	78.0	82.0					6																	30681890		1510	2709	4219	SO:0001819	synonymous_variant	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30681890T>C	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.207A>G	6.37:g.30681890T>C			Somatic				MDC1_ENST00000376405.2_Silent_p.P69P	p.P69P	NM_014641.2	NP_055456.2	WXS	Illumina GAIIx	Phase_I	Q14676	MDC1_HUMAN			3	854	-			69			FHA.|Interaction with CHEK2.|Interaction with the MRN complex.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	c.207A>G	CCDS34384.1																																																																																				0.488	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		4	216	0	0	0	1	0	4	216				
WDR90	197335	broad.mit.edu	37	16	700616	700616	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr16:700616C>G	ENST00000293879.4	+	5	466	c.466C>G	c.(466-468)Ctg>Gtg	p.L156V	AL022341.3_ENST00000455294.1_RNA|WDR90_ENST00000549091.1_Missense_Mutation_p.L156V			Q96KV7	WDR90_HUMAN	WD repeat domain 90	156								p.L156V(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCTGGTCTACCTGAACCGGTG	0.627																																						ENST00000549091.1																			1	Substitution - Missense(1)	p.L156V(1)	kidney(1)	endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(466-468)Ctg>Gtg		WD repeat domain 90							48.0	56.0	54.0					16																	700616		2057	4184	6241	SO:0001583	missense	197335							g.chr16:700616C>G	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.466C>G	16.37:g.700616C>G	ENSP00000293879:p.Leu156Val		Somatic				WDR90_ENST00000293879.4_Missense_Mutation_p.L156V	p.L156V	NM_145294.4	NP_660337.3	WXS	Illumina GAIIx	Phase_I	Q96KV7	WDR90_HUMAN			5	558	+		Hepatocellular(780;0.0218)	156					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.466C>G	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247660	0.39697	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.37584	1.19;1.19	5.18	3.21	0.36854	.	0.111883	0.37012	N	0.002300	T	0.44705	0.1306	M	0.62723	1.935	0.80722	D	1	D;P;P	0.56521	0.976;0.896;0.75	P;B;B	0.52823	0.71;0.416;0.292	T	0.33727	-0.9857	10	0.51188	T	0.08	.	9.9148	0.41427	0.0:0.6666:0.2599:0.0735	.	156;156;156	Q96KV7;C9JMK1;Q96KV7-3	WDR90_HUMAN;.;.	V	156	ENSP00000448122:L156V;ENSP00000293879:L156V	ENSP00000293879:L156V	L	+	1	2	WDR90	640617	1.000000	0.71417	0.216000	0.23742	0.070000	0.16714	1.863000	0.39459	0.572000	0.29383	0.563000	0.77884	CTG		0.627	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		5	13	0	0	0	1	0	5	13				
LAMTOR4	389541	broad.mit.edu	37	7	99751111	99751111	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr7:99751111G>A	ENST00000341942.5	+	3	239	c.173G>A	c.(172-174)gGc>gAc	p.G58D	LAMTOR4_ENST00000468582.1_3'UTR|C7orf43_ENST00000498638.1_5'Flank|LAMTOR4_ENST00000441173.1_Missense_Mutation_p.G58D	NM_001008395.2	NP_001008396.1	Q0VGL1	LTOR4_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 4	58					cellular response to amino acid stimulus (GO:0071230)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|Ragulator complex (GO:0071986)											CTGCACCGCGGCATGAATGTG	0.637																																						ENST00000441173.1																			0											c.(172-174)gGc>gAc		late endosomal/lysosomal adaptor, MAPK and MTOR activator 4							87.0	85.0	86.0					7																	99751111		2203	4300	6503	SO:0001583	missense	389541							g.chr7:99751111G>A		CCDS34702.1	7q22	2012-09-24	2012-09-24	2012-09-24	ENSG00000188186	ENSG00000188186			33772	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 59"""	C7orf59		22980980	Standard	NM_001008395		Approved		uc003utq.2	Q0VGL1	OTTHUMG00000154854	ENST00000341942.5:c.173G>A	7.37:g.99751111G>A	ENSP00000343118:p.Gly58Asp		Somatic				LAMTOR4_ENST00000468582.1_3'UTR|LAMTOR4_ENST00000341942.5_Missense_Mutation_p.G58D	p.G58D			WXS	Illumina GAIIx	Phase_I					3	208	+									Missense_Mutation	SNP	ENST00000341942.5	37	c.173G>A	CCDS34702.1	.	.	.	.	.	.	.	.	.	.	g	3.571	-0.087664	0.07097	.	.	ENSG00000188186	ENST00000341942;ENST00000441173	T	0.15834	2.39	5.3	4.35	0.52113	.	0.281535	0.35615	N	0.003095	T	0.09069	0.0224	.	.	.	0.32908	D	0.514125	B	0.02656	0.0	B	0.04013	0.001	T	0.13495	-1.0507	9	0.11485	T	0.65	-13.3986	11.3953	0.49838	0.0:0.1825:0.8174:0.0	.	58	Q0VGL1	CG059_HUMAN	D	58	ENSP00000343118:G58D	ENSP00000343118:G58D	G	+	2	0	C7orf59	99589047	0.998000	0.40836	0.955000	0.39395	0.171000	0.22731	3.323000	0.52014	2.621000	0.88768	0.655000	0.94253	GGC		0.637	LAMTOR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337373.2	NM_001008395		4	256	0	0	0	1	0	4	256				
TMOD1	7111	broad.mit.edu	37	9	100286421	100286421	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr9:100286421A>T	ENST00000259365.4	+	2	165		c.e2-1		TMOD1_ENST00000395211.2_Splice_Site	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1						adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		TCTTTCTGGTAGGTATTACTC	0.453																																						ENST00000395211.2																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11						c.e2-1		tropomodulin 1							64.0	60.0	62.0					9																	100286421		2203	4300	6503	SO:0001630	splice_region_variant	7111				muscle filament sliding	cytosol	actin binding	g.chr9:100286421A>T		CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.-48-1A>T	9.37:g.100286421A>T			Somatic				TMOD1_ENST00000259365.3_Splice_Site		NM_001166116.1	NP_001159588.1	WXS	Illumina GAIIx	Phase_I	P28289	TMOD1_HUMAN		STAD - Stomach adenocarcinoma(157;0.105)	2	88	+		Acute lymphoblastic leukemia(62;0.154)						B2RB77|Q5T7W3|Q9BUF1	Splice_Site	SNP	ENST00000259365.4	37		CCDS6726.1																																																																																				0.453	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053320.2	NM_003275	Intron	5	182	0	0	0	1	0	5	182				
HLTF	6596	broad.mit.edu	37	3	148789117	148789117	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr3:148789117A>T	ENST00000310053.5	-	7	1009	c.816T>A	c.(814-816)taT>taA	p.Y272*	HLTF_ENST00000465259.1_Nonsense_Mutation_p.Y272*|HLTF_ENST00000392912.2_Nonsense_Mutation_p.Y272*|HLTF_ENST00000494055.1_Nonsense_Mutation_p.Y272*	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	272					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTATTGTGTTATAGTATAAGT	0.373																																						ENST00000310053.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(814-816)taT>taA		helicase-like transcription factor							116.0	114.0	115.0					3																	148789117		2203	4300	6503	SO:0001587	stop_gained	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148789117A>T	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.816T>A	3.37:g.148789117A>T	ENSP00000308944:p.Tyr272*		Somatic				HLTF_ENST00000392912.2_Nonsense_Mutation_p.Y272*|HLTF_ENST00000494055.1_Nonsense_Mutation_p.Y272*|HLTF_ENST00000465259.1_Nonsense_Mutation_p.Y272*	p.Y272*	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	WXS	Illumina GAIIx	Phase_I	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		7	1009	-			272					D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Nonsense_Mutation	SNP	ENST00000310053.5	37	c.816T>A	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	A	38	6.695457	0.97768	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000416117;ENST00000392913	.	.	.	5.28	-1.3	0.09259	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6248	11.2925	0.49258	0.3914:0.0:0.6086:0.0	.	.	.	.	X	272;272;272;272;269;269	.	ENSP00000308944:Y272X	Y	-	3	2	HLTF	150271807	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	1.278000	0.33179	-0.145000	0.11294	0.533000	0.62120	TAT		0.373	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			5	53	0	0	0	1	0	5	53				
ZNF253	56242	broad.mit.edu	37	19	20002281	20002281	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr19:20002281A>T	ENST00000589717.1	+	4	318		c.e4-1		ZNF253_ENST00000355650.4_Splice_Site|CTC-559E9.8_ENST00000585571.1_RNA|AC011477.1_ENST00000578823.1_RNA	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253						negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGTTTCTTTTAGTTATGAGTT	0.313																																						ENST00000589717.1																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.e4-1		zinc finger protein 253							25.0	25.0	25.0					19																	20002281		2092	4245	6337	SO:0001630	splice_region_variant	56242				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20002281A>T	AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"""Zinc fingers, C2H2-type"", ""-"""	13497	protein-coding gene	gene with protein product		606954	"""zinc finger protein 411"""	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.227-1A>T	19.37:g.20002281A>T			Somatic				ZNF253_ENST00000355650.4_Splice_Site		NM_021047.2	NP_066385.2	WXS	Illumina GAIIx	Phase_I	O75346	ZN253_HUMAN			4	318	+								A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Splice_Site	SNP	ENST00000589717.1	37		CCDS42532.1	.	.	.	.	.	.	.	.	.	.	.	3.790	-0.043857	0.07452	.	.	ENSG00000256771	ENST00000355650	.	.	.	0.185	0.185	0.15096	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.6115	0.04892	0.5567:0.0:0.4433:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF253	19863281	0.000000	0.05858	0.254000	0.24359	0.185000	0.23345	-0.081000	0.11321	0.251000	0.21505	0.248000	0.18094	.		0.313	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460802.1	NM_021047	Intron	3	16	0	0	0	1	0	3	16				
HS6ST2	90161	broad.mit.edu	37	X	131762678	131762678	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chrX:131762678G>T	ENST00000370836.2	-	4	1806	c.1391C>A	c.(1390-1392)gCc>gAc	p.A464D	HS6ST2_ENST00000370833.2_Missense_Mutation_p.A358D|HS6ST2_ENST00000406696.3_Missense_Mutation_p.A190D|HS6ST2_ENST00000521489.1_Missense_Mutation_p.A504D	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	464					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					TACACTAGAGGCCCTAGTGGT	0.408																																						ENST00000370836.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9						c.(1390-1392)gCc>gAc		heparan sulfate 6-O-sulfotransferase 2							134.0	125.0	128.0					X																	131762678		1853	4090	5943	SO:0001583	missense	90161					integral to membrane	sulfotransferase activity	g.chrX:131762678G>T	AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"""Sulfotransferases, membrane-bound"""	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.1391C>A	X.37:g.131762678G>T	ENSP00000359873:p.Ala464Asp		Somatic				HS6ST2_ENST00000406696.3_Missense_Mutation_p.A190D|HS6ST2_ENST00000521489.1_Missense_Mutation_p.A504D|HS6ST2_ENST00000370833.2_Missense_Mutation_p.A358D|HS6ST2_ENST00000370837.1_Missense_Mutation_p.A318D	p.A464D	NM_147175.3	NP_671704.3	WXS	Illumina GAIIx	Phase_I	Q96MM7	H6ST2_HUMAN			4	1806	-	Acute lymphoblastic leukemia(192;0.000127)		464					B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Missense_Mutation	SNP	ENST00000370836.2	37	c.1391C>A	CCDS48169.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843305	0.71488	.	.	ENSG00000171004	ENST00000370837;ENST00000370836;ENST00000521489;ENST00000406696;ENST00000370833	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.86640	0.5981	M	0.75777	2.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.995;0.999	D	0.87529	0.2451	10	0.87932	D	0	-0.8056	18.3084	0.90190	0.0:0.0:1.0:0.0	.	464;504;190	Q96MM7;E9PDY5;B7Z5H6	H6ST2_HUMAN;.;.	D	318;464;504;190;358	ENSP00000359874:A318D;ENSP00000359873:A464D;ENSP00000429473:A504D;ENSP00000384013:A190D;ENSP00000359870:A358D	ENSP00000359870:A358D	A	-	2	0	HS6ST2	131590359	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.869000	0.99810	2.549000	0.85964	0.600000	0.82982	GCC		0.408	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058332.3	NM_147174		6	328	1	0	3.59834e-05	1	3.80717e-05	6	328				
SLC44A3	126969	broad.mit.edu	37	1	95330370	95330370	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:95330370C>T	ENST00000271227.6	+	11	1412	c.1310C>T	c.(1309-1311)aCc>aTc	p.T437I	SLC44A3_ENST00000527077.1_Missense_Mutation_p.T369I|SLC44A3_ENST00000532427.1_Missense_Mutation_p.T357I|SLC44A3_ENST00000446120.2_Missense_Mutation_p.T401I|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000467909.1_Missense_Mutation_p.T389I|SLC44A3_ENST00000529450.1_Missense_Mutation_p.T405I	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	437					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	CATCAAGGAACCGTTGTGAAA	0.413																																						ENST00000271227.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(1309-1311)aCc>aTc		solute carrier family 44, member 3	Choline(DB00122)						212.0	200.0	204.0					1																	95330370		2203	4300	6503	SO:0001583	missense	126969					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:95330370C>T	BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"""Solute carriers"""	28689	protein-coding gene	gene with protein product			"""solute carrier family, member 3"""			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.1310C>T	1.37:g.95330370C>T	ENSP00000271227:p.Thr437Ile		Somatic				SLC44A3_ENST00000467909.1_Missense_Mutation_p.T389I|SLC44A3_ENST00000446120.2_Missense_Mutation_p.T401I|SLC44A3_ENST00000532427.1_Missense_Mutation_p.T357I|SLC44A3_ENST00000529450.1_Missense_Mutation_p.T405I|SLC44A3_ENST00000527077.1_Missense_Mutation_p.T369I|SLC44A3_ENST00000530397.1_3'UTR	p.T437I	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	WXS	Illumina GAIIx	Phase_I	Q8N4M1	CTL3_HUMAN		all cancers(265;0.039)|Epithelial(280;0.124)	11	1412	+		all_lung(203;0.000712)|Lung NSC(277;0.00316)	437					B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Missense_Mutation	SNP	ENST00000271227.6	37	c.1310C>T	CCDS44176.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124124	0.77436	.	.	ENSG00000143036	ENST00000446120;ENST00000271227;ENST00000527077;ENST00000529450;ENST00000467909;ENST00000532427	T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000003	T	0.57184	0.2036	M	0.84773	2.715	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.994;0.999;0.999;0.999	T	0.63563	-0.6609	10	0.87932	D	0	-18.0624	19.6846	0.95976	0.0:1.0:0.0:0.0	.	357;401;369;405;437	E9PIC5;Q8N4M1-3;E9PJY8;E9PJH2;Q8N4M1	.;.;.;.;CTL3_HUMAN	I	401;437;369;405;389;357	ENSP00000389143:T401I;ENSP00000271227:T437I;ENSP00000433641:T369I;ENSP00000431836:T405I;ENSP00000432789:T389I;ENSP00000436661:T357I	ENSP00000271227:T437I	T	+	2	0	SLC44A3	95102958	1.000000	0.71417	0.949000	0.38748	0.425000	0.31504	7.011000	0.76359	2.644000	0.89710	0.655000	0.94253	ACC		0.413	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3	NM_152369		6	497	0	0	0	1	0	6	497				
NCOA2	10499	broad.mit.edu	37	8	71129001	71129001	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr8:71129001T>A	ENST00000452400.2	-	3	163		c.e3-2			NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2						cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TATCAGCAACTAAAACAGAAA	0.408			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"""RUNXBP2, HEY1"""		"""AML, Chondrosarcoma"""	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.e3-2		nuclear receptor coactivator 2							98.0	92.0	94.0					8																	71129001		1831	4100	5931	SO:0001630	splice_region_variant	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71129001T>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.19-2A>T	8.37:g.71129001T>A			Somatic						NM_006540.2	NP_006531.1	WXS	Illumina GAIIx	Phase_I	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		3	163	-	Breast(64;0.201)							Q14CD2	Splice_Site	SNP	ENST00000452400.2	37		CCDS47872.1																																																																																				0.408	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1		Intron	6	100	0	0	0	1	0	6	100				
CHPT1	56994	broad.mit.edu	37	12	102107933	102107933	+	Silent	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr12:102107933T>A	ENST00000229266.3	+	2	574	c.339T>A	c.(337-339)atT>atA	p.I113I	CHPT1_ENST00000549872.1_Silent_p.I113I|CHPT1_ENST00000550385.1_3'UTR	NM_020244.2	NP_064629.2	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	113					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	diacylglycerol binding (GO:0019992)|diacylglycerol cholinephosphotransferase activity (GO:0004142)|metal ion binding (GO:0046872)	p.I113I(1)		kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TGGATGCTATTGATGGGAAAC	0.383																																						ENST00000549872.1																			1	Substitution - coding silent(1)	p.I113I(1)	kidney(1)	kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(337-339)atT>atA		choline phosphotransferase 1							155.0	167.0	163.0					12																	102107933		2203	4300	6503	SO:0001819	synonymous_variant	56994				platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding	g.chr12:102107933T>A		CCDS9086.1	12q	2010-07-08				ENSG00000111666	2.7.8.2		17852	protein-coding gene	gene with protein product	"""phosphatidylcholine synthesizing enzyme"""					10893425	Standard	NM_020244		Approved	CPT1	uc001tin.3	Q8WUD6		ENST00000229266.3:c.339T>A	12.37:g.102107933T>A			Somatic				CHPT1_ENST00000229266.3_Silent_p.I113I|CHPT1_ENST00000550385.1_3'UTR	p.I113I			WXS	Illumina GAIIx	Phase_I	Q8WUD6	CHPT1_HUMAN			2	529	+			113					B3KQM2|Q7Z7H0|Q7Z7H1|Q7Z7H2|Q8IWQ4|Q8IWQ5|Q8WYI4|Q9NRQ6|Q9NRQ7|Q9Y6M6	Silent	SNP	ENST00000229266.3	37	c.339T>A	CCDS9086.1																																																																																				0.383	CHPT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409173.1	NM_020244		77	160	0	0	0	1	0	77	160				
CPSF1	29894	broad.mit.edu	37	8	145623927	145623927	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr8:145623927T>A	ENST00000349769.3	-	18	1834	c.1740A>T	c.(1738-1740)gaA>gaT	p.E580D	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	580					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|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)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)	p.E580D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TGGTGGAGTCTTCCCGGCTCA	0.682																																					NSCLC(133;1088 1848 27708 34777 35269)	ENST00000349769.3																			1	Substitution - Missense(1)	p.E580D(1)	kidney(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1738-1740)gaA>gaT		cleavage and polyadenylation specific factor 1, 160kDa							90.0	94.0	92.0					8																	145623927		2203	4300	6503	SO:0001583	missense	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145623927T>A	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1740A>T	8.37:g.145623927T>A	ENSP00000339353:p.Glu580Asp		Somatic					p.E580D	NM_013291.2	NP_037423.2	WXS	Illumina GAIIx	Phase_I	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		18	1834	-	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)		580					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.1740A>T	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.184937	0.57909	.	.	ENSG00000071894	ENST00000349769	T	0.43294	0.95	5.84	0.0524	0.14302	.	0.000000	0.85682	D	0.000000	T	0.33323	0.0859	L	0.42245	1.32	0.45899	D	0.998747	B	0.28470	0.213	B	0.35278	0.199	T	0.05835	-1.0861	10	0.25751	T	0.34	-13.851	9.3829	0.38325	0.1427:0.6922:0.0:0.1651	.	580	Q10570	CPSF1_HUMAN	D	580	ENSP00000339353:E580D	ENSP00000339353:E580D	E	-	3	2	CPSF1	145594735	0.905000	0.30787	0.993000	0.49108	0.789000	0.44602	-0.064000	0.11636	-0.353000	0.08224	0.533000	0.62120	GAA		0.682	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		4	48	0	0	0	1	0	4	48				
TECTB	6975	broad.mit.edu	37	10	114053792	114053792	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr10:114053792C>G	ENST00000369422.3	+	6	644	c.644C>G	c.(643-645)cCc>cGc	p.P215R		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	215	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		TTCATGTATCCCTTGCAGTGG	0.478																																						ENST00000369422.3																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(643-645)cCc>cGc		tectorin beta							85.0	85.0	85.0					10																	114053792		2203	4300	6503	SO:0001583	missense	6975					anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr10:114053792C>G	AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913			11721	protein-coding gene	gene with protein product		602653				9079715	Standard	NM_058222		Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.644C>G	10.37:g.114053792C>G	ENSP00000358430:p.Pro215Arg		Somatic					p.P215R	NM_058222.1	NP_478129.1	WXS	Illumina GAIIx	Phase_I	Q96PL2	TECTB_HUMAN		Epithelial(162;0.0143)|all cancers(201;0.0242)	6	644	+		Colorectal(252;0.198)	215			ZP.		Q5VW53	Missense_Mutation	SNP	ENST00000369422.3	37	c.644C>G	CCDS7571.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.946794	0.34377	.	.	ENSG00000119913	ENST00000369422	D	0.81739	-1.53	5.67	5.67	0.87782	Endoglin/CD105 antigen conserved site (1);Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.336194	0.34603	N	0.003838	T	0.73289	0.3568	L	0.37750	1.13	0.41216	D	0.986473	B	0.17667	0.023	B	0.15052	0.012	T	0.68443	-0.5407	10	0.46703	T	0.11	.	14.1909	0.65637	0.1582:0.8418:0.0:0.0	.	215	Q96PL2	TECTB_HUMAN	R	215	ENSP00000358430:P215R	ENSP00000358430:P215R	P	+	2	0	TECTB	114043782	0.923000	0.31300	1.000000	0.80357	0.997000	0.91878	1.616000	0.36933	2.836000	0.97738	0.655000	0.94253	CCC		0.478	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	NM_058222		4	39	0	0	0	1	0	4	39				
EIF4E	1977	broad.mit.edu	37	4	99823113	99823113	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr4:99823113A>T	ENST00000450253.2	-	2	1563	c.39T>A	c.(37-39)aaT>aaA	p.N13K	EIF4E_ENST00000280892.6_Missense_Mutation_p.N33K|EIF4E_ENST00000504432.1_Missense_Mutation_p.N41K|EIF4E_ENST00000505992.1_Missense_Mutation_p.N13K|EIF4E_ENST00000504472.1_5'UTR	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	13					cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of mitotic cell cycle (GO:0045931)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|mRNA cap binding complex (GO:0005845)|RISC complex (GO:0016442)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation initiation factor activity (GO:0003743)	p.N13K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		TAGTCGGGGGATTAGGAGTAG	0.373																																						ENST00000450253.2																			1	Substitution - Missense(1)	p.N13K(1)	kidney(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13						c.(37-39)aaT>aaA		eukaryotic translation initiation factor 4E							123.0	129.0	127.0					4																	99823113		2203	4299	6502	SO:0001583	missense	1977				G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr4:99823113A>T	M15353	CCDS34031.1, CCDS47109.1, CCDS54779.1	4q21-q25	2008-02-05			ENSG00000151247	ENSG00000151247			3287	protein-coding gene	gene with protein product		133440		EIF4EL1, EIF4F		9330633, 1916814	Standard	NM_001968		Approved	EIF4E1	uc011cea.1	P06730	OTTHUMG00000161090	ENST00000450253.2:c.39T>A	4.37:g.99823113A>T	ENSP00000389624:p.Asn13Lys		Somatic				EIF4E_ENST00000505992.1_Missense_Mutation_p.N13K|EIF4E_ENST00000504432.1_Missense_Mutation_p.N41K|EIF4E_ENST00000504472.1_5'UTR|EIF4E_ENST00000280892.6_Missense_Mutation_p.N33K	p.N13K	NM_001968.3	NP_001959.1	WXS	Illumina GAIIx	Phase_I	P06730	IF4E_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)	2	1563	-			13					B7Z6V1|D6RCQ6|Q96E95	Missense_Mutation	SNP	ENST00000450253.2	37	c.39T>A	CCDS34031.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.33|15.33	2.802047|2.802047	0.50315|0.50315	.|.	.|.	ENSG00000151247|ENSG00000151247	ENST00000450253;ENST00000280892;ENST00000504432;ENST00000505992|ENST00000511644	T;T;T;T|.	0.43688|.	0.94;0.94;0.94;0.94|.	5.85|5.85	2.11|2.11	0.27256|0.27256	Translation Initiation factor eIF- 4e-like  domain (2);|.	0.510486|.	0.23281|.	N|.	0.049912|.	T|T	0.32526|0.32526	0.0832|0.0832	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999999|0.999999	P;D;D;P|.	0.67145|.	0.908;0.996;0.967;0.76|.	D;D;D;P|.	0.75484|.	0.947;0.986;0.964;0.82|.	T|T	0.04386|0.04386	-1.0955|-1.0955	10|5	0.18276|.	T|.	0.48|.	-14.8551|-14.8551	10.0348|10.0348	0.42122|0.42122	0.7354:0.0:0.2646:0.0|0.7354:0.0:0.2646:0.0	.|.	13;13;33;13|.	B7Z2T1;P06730-2;B7Z6V1;P06730|.	.;.;.;IF4E_HUMAN|.	K|T	13;33;41;13|10	ENSP00000389624:N13K;ENSP00000280892:N33K;ENSP00000423977:N41K;ENSP00000425561:N13K|.	ENSP00000280892:N33K|.	N|S	-|-	3|1	2|0	EIF4E|EIF4E	100042136|100042136	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	3.081000|3.081000	0.50120|0.50120	0.563000|0.563000	0.29222|0.29222	0.523000|0.523000	0.50628|0.50628	AAT|TCC		0.373	EIF4E-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363739.1	NM_001968		97	139	0	0	0	1	0	97	139				
CEP164	22897	broad.mit.edu	37	11	117280582	117280582	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr11:117280582C>A	ENST00000278935.3	+	30	4144	c.3997C>A	c.(3997-3999)Caa>Aaa	p.Q1333K	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1333					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.Q1333K(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CACGTCCACCCAATGGGCCTG	0.617																																						ENST00000278935.3																			1	Substitution - Missense(1)	p.Q1333K(1)	kidney(1)	breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(3997-3999)Caa>Aaa		centrosomal protein 164kDa							95.0	95.0	95.0					11																	117280582		2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117280582C>A	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.3997C>A	11.37:g.117280582C>A	ENSP00000278935:p.Gln1333Lys		Somatic				CEP164_ENST00000533706.1_3'UTR	p.Q1333K	NM_014956.4	NP_055771.4	WXS	Illumina GAIIx	Phase_I	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	30	4144	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	1333					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.3997C>A	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	C	5.579	0.291711	0.10567	.	.	ENSG00000110274	ENST00000278935	T	0.24350	1.86	4.61	3.69	0.42338	.	1.025460	0.07784	N	0.953829	T	0.29126	0.0724	M	0.68952	2.095	0.30857	N	0.733919	B;B	0.32829	0.386;0.386	B;B	0.28139	0.086;0.086	T	0.23833	-1.0177	10	0.41790	T	0.15	0.0	10.9183	0.47150	0.0:0.9097:0.0:0.0903	.	1333;1328	Q9UPV0;Q9UPV0-2	CE164_HUMAN;.	K	1333	ENSP00000278935:Q1333K	ENSP00000278935:Q1333K	Q	+	1	0	CEP164	116785792	0.534000	0.26362	0.988000	0.46212	0.173000	0.22820	3.017000	0.49615	0.914000	0.36822	0.561000	0.74099	CAA		0.617	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		92	179	1	0	9.50263e-46	1	1.0986e-45	92	179				
FLG	2312	broad.mit.edu	37	1	152284047	152284047	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:152284047G>A	ENST00000368799.1	-	3	3350	c.3315C>T	c.(3313-3315)gaC>gaT	p.D1105D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1105	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCTGACCAGTCACGTGCGG	0.577									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(3313-3315)gaC>gaT		filaggrin							293.0	313.0	306.0					1																	152284047		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284047G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3315C>T	1.37:g.152284047G>A			Somatic				FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.D1105D	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3350	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1105			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.3315C>T	CCDS30860.1																																																																																				0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		5	697	0	0	0	1	0	5	697				
EP300	2033	broad.mit.edu	37	22	41573941	41573941	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr22:41573941G>T	ENST00000263253.7	+	31	7445	c.6226G>T	c.(6226-6228)Gcc>Tcc	p.A2076S	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2076	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TATCCTTCACGCCAACCCCCA	0.572			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(6226-6228)Gcc>Tcc		E1A binding protein p300							75.0	76.0	75.0					22																	41573941		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41573941G>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6226G>T	22.37:g.41573941G>T	ENSP00000263253:p.Ala2076Ser		Somatic				RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	p.A2076S	NM_001429.3	NP_001420.2	WXS	Illumina GAIIx	Phase_I	Q09472	EP300_HUMAN			31	7445	+			2076			Interaction with HTLV-1 Tax.|Interaction with NCOA2.		B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.6226G>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	1.134	-0.651612	0.03506	.	.	ENSG00000100393	ENST00000263253	T	0.79653	-1.29	5.0	2.77	0.32553	Nuclear receptor coactivator, CREB-bp-like, interlocking (2);Nuclear receptor coactivator, interlocking (1);	0.141977	0.31495	N	0.007550	T	0.44138	0.1279	N	0.00801	-1.175	0.33075	D	0.535877	B	0.09022	0.002	B	0.14578	0.011	T	0.52109	-0.8619	10	0.02654	T	1	-7.0507	6.4588	0.21944	0.0934:0.0:0.5481:0.3585	.	2076	Q09472	EP300_HUMAN	S	2076	ENSP00000263253:A2076S	ENSP00000263253:A2076S	A	+	1	0	EP300	39903887	1.000000	0.71417	0.964000	0.40570	0.738000	0.42128	4.504000	0.60414	1.109000	0.41680	-0.258000	0.10820	GCC		0.572	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		7	267	1	0	5.68852e-11	1	6.27061e-11	7	267				
MIR363	574031	broad.mit.edu	37	X	133303638	133303638	+	RNA	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chrX:133303638G>A	ENST00000384840.1	-	0	0				MIR106A_ENST00000384870.1_RNA|MIR20B_ENST00000384977.1_RNA|MIR92A2_ENST00000385299.1_RNA|MIR19B2_ENST00000385077.2_RNA|MIR18B_ENST00000454574.2_RNA	NR_029852.1				microRNA 363																		CCCACCCAGGGATGAATGGGC	0.433																																						ENST00000385299.1																			0																				129.0	108.0	115.0					X																	133303638		1568	3582	5150			407049							g.chrX:133303638G>A			Xq26.2	2012-03-12		2008-12-18	ENSG00000207572	ENSG00000207572		"""ncRNAs / Micro RNAs"""	32023	non-coding RNA	RNA, micro				MIRN363			Standard	NR_029852		Approved	hsa-mir-363, MIR-363	uc022ceb.1				X.37:g.133303638G>A			Somatic						NR_029509.1		WXS	Illumina GAIIx	Phase_I					0	4	-									RNA	SNP	ENST00000384840.1	37																																																																																						0.433	MIR363-201	KNOWN	basic	miRNA	miRNA		NR_029852		15	256	0	0	0	1	0	15	256				
NR1H3	10062	broad.mit.edu	37	11	47289515	47289515	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr11:47289515A>C	ENST00000467728.1	+	7	2278	c.1040A>C	c.(1039-1041)aAt>aCt	p.N347T	MADD_ENST00000395336.3_5'Flank|NR1H3_ENST00000529540.1_3'UTR|MADD_ENST00000395344.3_5'Flank|MADD_ENST00000402799.1_5'Flank|MADD_ENST00000406482.1_5'Flank|MADD_ENST00000342922.4_5'Flank|NR1H3_ENST00000405576.1_Missense_Mutation_p.N242T|RP11-17G12.3_ENST00000545474.1_RNA|MADD_ENST00000402192.2_5'Flank|RP11-17G12.3_ENST00000543925.1_RNA|MADD_ENST00000407859.3_5'Flank|NR1H3_ENST00000441012.2_Missense_Mutation_p.N347T|MADD_ENST00000349238.3_5'Flank|NR1H3_ENST00000395397.3_Missense_Mutation_p.N302T|MADD_ENST00000311027.5_5'Flank|NR1H3_ENST00000527949.1_Missense_Mutation_p.N196T|NR1H3_ENST00000405853.3_Missense_Mutation_p.N287T|NR1H3_ENST00000481889.2_Missense_Mutation_p.N366T|NR1H3_ENST00000407404.1_Missense_Mutation_p.N287T			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	347	Ligand-binding. {ECO:0000255}.				apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.N347T(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						AGGGCCATGAATGAGCTGCAA	0.537																																						ENST00000467728.1																			1	Substitution - Missense(1)	p.N347T(1)	kidney(1)	endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						c.(1039-1041)aAt>aCt		nuclear receptor subfamily 1, group H, member 3							135.0	114.0	121.0					11																	47289515		2201	4298	6499	SO:0001583	missense	10062				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	g.chr11:47289515A>C	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.1040A>C	11.37:g.47289515A>C	ENSP00000420656:p.Asn347Thr		Somatic				NR1H3_ENST00000395397.3_Missense_Mutation_p.N302T|NR1H3_ENST00000405853.3_Missense_Mutation_p.N287T|NR1H3_ENST00000481889.2_Missense_Mutation_p.N366T|NR1H3_ENST00000405576.1_Missense_Mutation_p.N242T|NR1H3_ENST00000407404.1_Missense_Mutation_p.N287T|NR1H3_ENST00000441012.2_Missense_Mutation_p.N347T|NR1H3_ENST00000527949.1_Missense_Mutation_p.N196T|NR1H3_ENST00000529540.1_3'UTR	p.N347T			WXS	Illumina GAIIx	Phase_I	Q13133	NR1H3_HUMAN			7	2278	+			347			Ligand-binding (Potential).		A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	ENST00000467728.1	37	c.1040A>C	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.173791	0.57692	.	.	ENSG00000025434	ENST00000395397;ENST00000405576;ENST00000481889;ENST00000531660;ENST00000407404;ENST00000441012;ENST00000467728;ENST00000405853;ENST00000527949	D;D;D;D;D;D;D;D;D	0.96651	-4.08;-4.08;-4.08;-4.08;-4.08;-4.08;-4.08;-4.08;-4.08	5.32	5.32	0.75619	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.95749	0.8617	L	0.52126	1.63	0.58432	D	0.999996	B;P;D;P;P	0.55605	0.073;0.757;0.972;0.48;0.762	B;P;P;B;B	0.56563	0.12;0.566;0.801;0.393;0.352	D	0.93685	0.7002	10	0.22706	T	0.39	.	10.009	0.41975	0.9243:0.0:0.0757:0.0	.	353;242;347;366;287	B4DXU5;B5MBY7;Q13133;E9PLL4;Q13133-2	.;.;NR1H3_HUMAN;.;.	T	302;242;366;153;287;347;347;287;196	ENSP00000378793:N302T;ENSP00000385073:N242T;ENSP00000433271:N366T;ENSP00000434650:N153T;ENSP00000385801:N287T;ENSP00000387946:N347T;ENSP00000420656:N347T;ENSP00000384745:N287T;ENSP00000432073:N196T	ENSP00000378793:N302T	N	+	2	0	NR1H3	47246091	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.997000	0.76270	2.139000	0.66308	0.533000	0.62120	AAT		0.537	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			20	78	0	0	0	1	0	20	78				
OIT3	170392	broad.mit.edu	37	10	74684103	74684103	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr10:74684103C>A	ENST00000334011.5	+	7	1286	c.1068C>A	c.(1066-1068)tgC>tgA	p.C356*		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	356	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.C356*(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					CGGTGACCTGCGAGTTTCCAC	0.552																																					Colon(7;19 345 13446 17537)	ENST00000334011.5																			1	Substitution - Nonsense(1)	p.C356*(1)	kidney(1)	autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35						c.(1066-1068)tgC>tgA		oncoprotein induced transcript 3							74.0	72.0	73.0					10																	74684103		2203	4300	6503	SO:0001587	stop_gained	170392					nuclear envelope	calcium ion binding	g.chr10:74684103C>A		CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.1068C>A	10.37:g.74684103C>A	ENSP00000333900:p.Cys356*		Somatic					p.C356*	NM_152635.1	NP_689848.1	WXS	Illumina GAIIx	Phase_I	Q8WWZ8	OIT3_HUMAN			7	1286	+	Prostate(51;0.0198)		356			ZP.		A0AVP3|Q8N1M8	Nonsense_Mutation	SNP	ENST00000334011.5	37	c.1068C>A	CCDS7318.1	.	.	.	.	.	.	.	.	.	.	C	37	6.220752	0.97390	.	.	ENSG00000138315	ENST00000334011	.	.	.	5.72	1.29	0.21616	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.3497	10.998	0.47589	0.0:0.519:0.0:0.481	.	.	.	.	X	356	.	ENSP00000333900:C356X	C	+	3	2	OIT3	74354109	0.001000	0.12720	1.000000	0.80357	0.994000	0.84299	-1.560000	0.02160	0.221000	0.20879	0.655000	0.94253	TGC		0.552	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635		17	164	1	0	0.00121646	1	0.00125896	17	164				
P2RY13	53829	broad.mit.edu	37	3	151045862	151045862	+	Missense_Mutation	SNP	G	G	T	rs368054575		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr3:151045862G>T	ENST00000325602.5	-	2	1001	c.982C>A	c.(982-984)Cta>Ata	p.L328I	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	328					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.L307I(1)|p.L328I(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			ATACATGGTAGCTTTTCTGTG	0.363																																						ENST00000325602.5																			2	Substitution - Missense(2)	p.L307I(1)|p.L328I(1)	kidney(2)	biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(982-984)Cta>Ata		purinergic receptor P2Y, G-protein coupled, 13							174.0	161.0	166.0					3																	151045862		2203	4300	6503	SO:0001583	missense	53829					integral to membrane|plasma membrane		g.chr3:151045862G>T	AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	4537	protein-coding gene	gene with protein product		606380	"""G protein-coupled receptor 86"""	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.982C>A	3.37:g.151045862G>T	ENSP00000320376:p.Leu328Ile		Somatic				MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	p.L328I	NM_176894.2	NP_795713.2	WXS	Illumina GAIIx	Phase_I	Q9BPV8	P2Y13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)		2	1001	-			328					B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Missense_Mutation	SNP	ENST00000325602.5	37	c.982C>A	CCDS3158.2	.	.	.	.	.	.	.	.	.	.	G	11.23	1.577121	0.28092	.	.	ENSG00000181631	ENST00000325602	T	0.34275	1.37	5.81	1.96	0.26148	.	0.168906	0.39985	N	0.001210	T	0.17408	0.0418	N	0.08118	0	0.09310	N	1	B	0.31859	0.343	B	0.34138	0.176	T	0.12863	-1.0531	10	0.52906	T	0.07	-1.5033	5.3757	0.16164	0.1286:0.3931:0.3762:0.102	.	328	Q9BPV8	P2Y13_HUMAN	I	328	ENSP00000320376:L328I	ENSP00000320376:L328I	L	-	1	2	P2RY13	152528552	0.295000	0.24389	0.003000	0.11579	0.612000	0.37316	1.028000	0.30128	0.077000	0.16863	0.655000	0.94253	CTA		0.363	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341468.1	NM_023914		78	129	1	0	1.24833e-42	1	1.42925e-42	78	129				
TRAPPC6B	122553	broad.mit.edu	37	14	39621045	39621045	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr14:39621045T>A	ENST00000330149.5	-	5	578		c.e5-2		TRAPPC6B_ENST00000557764.1_Splice_Site|TRAPPC6B_ENST00000347691.5_Splice_Site	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	trafficking protein particle complex 6B						vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)		TGCTAAATACTAAAAGGAAAA	0.299																																						ENST00000330149.5																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.e5-2		trafficking protein particle complex 6B							61.0	63.0	63.0					14																	39621045		2201	4296	6497	SO:0001630	splice_region_variant	122553				vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding	g.chr14:39621045T>A	AK025437	CCDS9670.1, CCDS41947.1	14q13.3	2011-10-10			ENSG00000182400	ENSG00000182400		"""Trafficking protein particle complex"""	23066	protein-coding gene	gene with protein product		610397					Standard	NM_177452		Approved		uc001wut.1	Q86SZ2	OTTHUMG00000140259	ENST00000330149.5:c.352-2A>T	14.37:g.39621045T>A			Somatic				TRAPPC6B_ENST00000347691.5_Splice_Site|TRAPPC6B_ENST00000557764.1_Splice_Site		NM_001079537.1	NP_001073005.1	WXS	Illumina GAIIx	Phase_I	Q86SZ2	TPC6B_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)	5	578	-	Hepatocellular(127;0.213)							B3KPS2|Q5JPD6|Q86U35|Q86X35	Splice_Site	SNP	ENST00000330149.5	37		CCDS41947.1	.	.	.	.	.	.	.	.	.	.	T	19.62	3.860967	0.71949	.	.	ENSG00000182400	ENST00000330149;ENST00000347691;ENST00000554018	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1576	0.59527	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRAPPC6B	38690796	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.484000	0.81180	2.104000	0.64026	0.533000	0.62120	.		0.299	TRAPPC6B-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276775.1	NM_177452	Intron	6	73	0	0	0	1	0	6	73				
RAB3D	9545	broad.mit.edu	37	19	11436252	11436252	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr19:11436252A>T	ENST00000222120.3	-	5	742	c.482T>A	c.(481-483)tTc>tAc	p.F161Y	CTC-510F12.6_ENST00000586051.1_RNA|TSPAN16_ENST00000316737.1_Intron|CTC-510F12.4_ENST00000586356.1_RNA|RAB3D_ENST00000589655.1_Missense_Mutation_p.F161Y	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	161					exocytosis (GO:0006887)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)|zymogen granule (GO:0042588)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.F161Y(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						GGCTTCAAAGAACTCGAAACC	0.527																																						ENST00000222120.3																			1	Substitution - Missense(1)	p.F161Y(1)	kidney(1)	cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						c.(481-483)tTc>tAc		RAB3D, member RAS oncogene family							135.0	125.0	128.0					19																	11436252		2203	4300	6503	SO:0001583	missense	9545				exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr19:11436252A>T	AF081353	CCDS12257.1	19p13.2	2012-10-02			ENSG00000105514	ENSG00000105514		"""RAB, member RAS oncogene"""	9779	protein-coding gene	gene with protein product	"""Rab3D upregulated with myeloid differentiation"", ""glioblastoma overexpressed"""	604350		GOV		10023084, 10072586	Standard	NM_004283		Approved	RAB16, D2-2, RAD3D	uc002mqx.3	O95716	OTTHUMG00000180835	ENST00000222120.3:c.482T>A	19.37:g.11436252A>T	ENSP00000222120:p.Phe161Tyr		Somatic				RAB3D_ENST00000589655.1_Missense_Mutation_p.F161Y|TSPAN16_ENST00000316737.1_Intron	p.F161Y	NM_004283.3	NP_004274.1	WXS	Illumina GAIIx	Phase_I	O95716	RAB3D_HUMAN			5	742	-			161						Missense_Mutation	SNP	ENST00000222120.3	37	c.482T>A	CCDS12257.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.959934	0.53400	.	.	ENSG00000105514	ENST00000222120	T	0.77620	-1.11	4.76	4.76	0.60689	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.68256	0.2981	L	0.31120	0.905	0.80722	D	1	B	0.16166	0.016	B	0.20577	0.03	T	0.66952	-0.5793	10	0.59425	D	0.04	.	13.3691	0.60703	1.0:0.0:0.0:0.0	.	161	O95716	RAB3D_HUMAN	Y	161	ENSP00000222120:F161Y	ENSP00000222120:F161Y	F	-	2	0	RAB3D	11297252	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	4.870000	0.63035	2.004000	0.58718	0.454000	0.30748	TTC		0.527	RAB3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453211.1	NM_004283		97	151	0	0	0	1	0	97	151				
PSTPIP2	9050	broad.mit.edu	37	18	43591160	43591160	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr18:43591160A>T	ENST00000409746.5	-	5	412	c.341T>A	c.(340-342)cTa>cAa	p.L114Q	PSTPIP2_ENST00000589328.1_Missense_Mutation_p.L114Q|PSTPIP2_ENST00000588801.1_5'UTR	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	114						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						TTTTCGTTGTAGTTTTTGCTT	0.413																																						ENST00000409746.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						c.(340-342)cTa>cAa		proline-serine-threonine phosphatase interacting protein 2							300.0	252.0	268.0					18																	43591160		2203	4300	6503	SO:0001583	missense	9050					membrane		g.chr18:43591160A>T		CCDS32820.2	18q12	2008-07-28			ENSG00000152229	ENSG00000152229			9581	protein-coding gene	gene with protein product						9804817	Standard	NM_024430		Approved		uc002lbp.4	Q9H939	OTTHUMG00000152674	ENST00000409746.5:c.341T>A	18.37:g.43591160A>T	ENSP00000387261:p.Leu114Gln		Somatic				PSTPIP2_ENST00000588801.1_5'UTR|PSTPIP2_ENST00000589328.1_Missense_Mutation_p.L114Q	p.L114Q	NM_024430.3	NP_077748.3	WXS	Illumina GAIIx	Phase_I	Q9H939	PPIP2_HUMAN			5	412	-			114						Missense_Mutation	SNP	ENST00000409746.5	37	c.341T>A	CCDS32820.2	.	.	.	.	.	.	.	.	.	.	A	10.08	1.253177	0.22965	.	.	ENSG00000152229	ENST00000409746;ENST00000360076	T	0.38401	1.14	5.13	1.36	0.22044	.	0.452533	0.23409	N	0.048482	T	0.17408	0.0418	L	0.31804	0.96	0.25875	N	0.983663	B;B	0.34290	0.447;0.033	B;B	0.26202	0.067;0.008	T	0.14476	-1.0471	10	0.19590	T	0.45	-12.8578	4.0432	0.09761	0.6064:0.0:0.124:0.2696	.	114;114	Q9H939-2;Q9H939	.;PPIP2_HUMAN	Q	114	ENSP00000387261:L114Q	ENSP00000353189:L114Q	L	-	2	0	PSTPIP2	41845158	0.958000	0.32768	0.988000	0.46212	0.963000	0.63663	0.900000	0.28431	-0.002000	0.14469	0.379000	0.24179	CTA		0.413	PSTPIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327522.1			6	232	0	0	0	1	0	6	232				
MAP3K19	80122	broad.mit.edu	37	2	135744273	135744273	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:135744273C>T	ENST00000375845.3	-	7	2199	c.2169G>A	c.(2167-2169)atG>atA	p.M723I	MAP3K19_ENST00000358371.4_Missense_Mutation_p.M610I|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.M740I	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	723							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TTGGGCATTTCATATGTGTTT	0.388																																						ENST00000375845.3																			0											c.(2167-2169)atG>atA		mitogen-activated protein kinase kinase kinase 19							100.0	100.0	100.0					2																	135744273		2203	4300	6503	SO:0001583	missense	80122							g.chr2:135744273C>T	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2169G>A	2.37:g.135744273C>T	ENSP00000365005:p.Met723Ile		Somatic				MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.M610I|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.M740I|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron	p.M723I	NM_025052.3	NP_079328.3	WXS	Illumina GAIIx	Phase_I					7	2199	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.2169G>A	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	C	0	-2.848399	0.00067	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.69806	-0.26;-0.27;2.11;-0.43	5.67	-6.52	0.01872	.	2.103750	0.01845	N	0.035563	T	0.30135	0.0755	N	0.01576	-0.805	0.28023	N	0.934449	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.28618	-1.0038	10	0.11485	T	0.65	.	3.4374	0.07450	0.3298:0.3218:0.264:0.0844	.	610;740;723	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	I	723;610;740;113	ENSP00000365005:M723I;ENSP00000351140:M610I;ENSP00000376647:M740I;ENSP00000392827:M113I	ENSP00000351140:M610I	M	-	3	0	YSK4	135460743	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.430000	0.06973	-0.740000	0.04803	-1.083000	0.02208	ATG		0.388	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		8	143	0	0	0	1	0	8	143				
JPH2	57158	broad.mit.edu	37	20	42815128	42815128	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr20:42815128C>T	ENST00000372980.3	-	1	1090	c.218G>A	c.(217-219)gGc>gAc	p.G73D	JPH2_ENST00000342272.3_Missense_Mutation_p.G73D	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	73	Gly-rich.				calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGTCTCTATGCCCAGCCCATG	0.597																																						ENST00000372980.3																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(217-219)gGc>gAc		junctophilin 2							123.0	94.0	104.0					20																	42815128		2203	4300	6503	SO:0001583	missense	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42815128C>T	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.218G>A	20.37:g.42815128C>T	ENSP00000362071:p.Gly73Asp		Somatic				JPH2_ENST00000342272.3_Missense_Mutation_p.G73D	p.G73D	NM_020433.4	NP_065166.2	WXS	Illumina GAIIx	Phase_I	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		1	1090	-		Myeloproliferative disorder(115;0.0122)	73			Gly-rich.		E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	c.218G>A	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	c	26.9	4.785784	0.90282	.	.	ENSG00000149596	ENST00000372980;ENST00000342272	D;D	0.95885	-3.84;-3.84	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	D	0.98845	0.9610	H	0.99225	4.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99593	1.0976	10	0.87932	D	0	.	17.4072	0.87477	0.0:1.0:0.0:0.0	.	73;73	Q9BR39-2;Q9BR39	.;JPH2_HUMAN	D	73	ENSP00000362071:G73D;ENSP00000344590:G73D	ENSP00000344590:G73D	G	-	2	0	JPH2	42248542	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.452000	0.80683	2.096000	0.63516	0.550000	0.68814	GGC		0.597	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			4	164	0	0	0	1	0	4	164				
DCAF11	80344	broad.mit.edu	37	14	24587957	24587957	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr14:24587957A>T	ENST00000446197.3	+	8	1451		c.e8-1		DCAF11_ENST00000559115.1_Splice_Site|RP11-468E2.6_ENST00000558325.1_5'Flank|DCAF11_ENST00000396936.1_Splice_Site|DCAF11_ENST00000396941.4_Splice_Site	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11						protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											TGCTTCTCTTAGTTCATATCT	0.463																																						ENST00000446197.3																			0											c.e8-1		DDB1 and CUL4 associated factor 11							173.0	146.0	155.0					14																	24587957		2203	4300	6503	SO:0001630	splice_region_variant	80344					CUL4 RING ubiquitin ligase complex	protein binding	g.chr14:24587957A>T	AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	protein-coding gene	gene with protein product		613317	"""WD repeat domain 23"""	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.725-1A>T	14.37:g.24587957A>T			Somatic				DCAF11_ENST00000559115.1_Splice_Site|DCAF11_ENST00000396941.4_Splice_Site|DCAF11_ENST00000396936.1_Splice_Site		NM_025230.4	NP_079506.3	WXS	Illumina GAIIx	Phase_I	Q8TEB1	DCA11_HUMAN			8	1451	+								B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Splice_Site	SNP	ENST00000446197.3	37		CCDS9610.1	.	.	.	.	.	.	.	.	.	.	a	16.59	3.165130	0.57476	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7873	0.57514	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCAF11	23657797	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.189000	0.77747	2.125000	0.65367	0.533000	0.62120	.		0.463	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4		Intron	6	280	0	0	0	1	0	6	280				
FMN1	342184	broad.mit.edu	37	15	33358779	33358779	+	Intron	SNP	T	T	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr15:33358779T>G	ENST00000559047.1	-	3	2043				FMN1_ENST00000334528.9_Missense_Mutation_p.E436A|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000558197.1_Missense_Mutation_p.E436A			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E436A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCTTAGCGACTCCTTCTCATG	0.488																																						ENST00000334528.9																			1	Substitution - Missense(1)	p.E436A(1)	kidney(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(1306-1308)gAg>gCg		formin 1							54.0	54.0	54.0					15																	33358779		1967	4163	6130	SO:0001627	intron_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33358779T>G	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-1504A>C	15.37:g.33358779T>G			Somatic				FMN1_ENST00000558197.1_Missense_Mutation_p.E436A|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000559047.1_Intron	p.E436A	NM_001103184.2	NP_001096654.1	WXS	Illumina GAIIx	Phase_I	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	1	1306	-		all_lung(180;1.14e-07)	186			Microtubule-binding (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.1307A>C		.	.	.	.	.	.	.	.	.	.	T	18.18	3.566143	0.65651	.	.	ENSG00000248905	ENST00000334528	T	0.60299	0.2	5.96	5.96	0.96718	.	0.269242	0.41823	D	0.000805	T	0.74351	0.3705	.	.	.	.	.	.	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.984	T	0.71909	-0.4450	8	0.29301	T	0.29	.	16.4484	0.83959	0.0:0.0:0.0:1.0	.	436;436	Q68DA7-3;Q68DA7-5	.;.	A	436	ENSP00000333950:E436A	ENSP00000333950:E436A	E	-	2	0	FMN1	31146071	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.996000	0.76263	2.285000	0.76669	0.533000	0.62120	GAG		0.488	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		10	34	0	0	0	1	0	10	34				
DNAH17	8632	broad.mit.edu	37	17	76482488	76482488	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr17:76482488G>T	ENST00000585328.1	-	45	7028	c.6904C>A	c.(6904-6906)Cgc>Agc	p.R2302S	RP11-559N14.5_ENST00000585969.1_RNA|RP11-559N14.5_ENST00000588565.1_RNA|DNAH17_ENST00000389840.5_Missense_Mutation_p.R2293S|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2293					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R2302S(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AACCCAAAGCGCAACTTGTCC	0.582																																						ENST00000389840.5																			1	Substitution - Missense(1)	p.R2302S(1)	kidney(1)	NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(6877-6879)Cgc>Agc		dynein, axonemal, heavy chain 17							74.0	80.0	78.0					17																	76482488		2184	4266	6450	SO:0001583	missense	8632							g.chr17:76482488G>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.6904C>A	17.37:g.76482488G>T	ENSP00000465516:p.Arg2302Ser		Somatic				DNAH17_ENST00000585328.1_Missense_Mutation_p.R2302S|RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000586052.1_5'UTR	p.R2293S			WXS	Illumina GAIIx	Phase_I			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		45	7001	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.6877C>A		.	.	.	.	.	.	.	.	.	.	G	17.21	3.331226	0.60853	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.26957	1.7	5.01	3.92	0.45320	.	.	.	.	.	T	0.53029	0.1771	M	0.92412	3.305	0.30878	N	0.731709	.	.	.	.	.	.	T	0.62025	-0.6941	7	0.87932	D	0	.	10.6149	0.45445	0.0:0.0:0.5769:0.4231	.	.	.	.	S	2302;2293	ENSP00000374490:R2293S	ENSP00000300671:R2302S	R	-	1	0	DNAH17	73994083	0.962000	0.33011	0.992000	0.48379	0.972000	0.66771	2.248000	0.43160	2.505000	0.84491	0.561000	0.74099	CGC		0.582	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		69	129	1	0	5.40308e-56	1	6.33925e-56	69	129				
RD3	343035	broad.mit.edu	37	1	211654589	211654589	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:211654589C>T	ENST00000367002.4	-	2	1332	c.169G>A	c.(169-171)Ggt>Agt	p.G57S	RD3_ENST00000484910.1_Intron	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	57			G -> V (in an individual with cone-rod degeneration). {ECO:0000269|PubMed:17186464}.		response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		TAGTCCACACCGGTGCAGACC	0.612																																						ENST00000367002.4																			0				central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10						c.(169-171)Ggt>Agt		retinal degeneration 3							96.0	91.0	93.0					1																	211654589		2203	4300	6503	SO:0001583	missense	343035				response to stimulus|visual perception			g.chr1:211654589C>T	AY191519	CCDS1498.1	1q32.3	2008-02-05	2006-11-13	2006-11-13	ENSG00000198570	ENSG00000198570			19689	protein-coding gene	gene with protein product		180040	"""chromosome 1 open reading frame 36"""	C1orf36		12914764	Standard	NM_183059		Approved	LCA12	uc001hin.2	Q7Z3Z2	OTTHUMG00000037002	ENST00000367002.4:c.169G>A	1.37:g.211654589C>T	ENSP00000355969:p.Gly57Ser		Somatic				RD3_ENST00000484910.1_Intron	p.G57S	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	WXS	Illumina GAIIx	Phase_I	Q7Z3Z2	RD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)	2	1332	-			57		G -> V (in an individual with cone-rod degeneration).			A8K595	Missense_Mutation	SNP	ENST00000367002.4	37	c.169G>A	CCDS1498.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097578	0.56075	.	.	ENSG00000198570	ENST00000367002	T	0.13538	2.58	4.85	3.93	0.45458	.	0.048110	0.85682	D	0.000000	T	0.28067	0.0692	L	0.56396	1.775	0.53005	D	0.999963	D	0.76494	0.999	P	0.60886	0.88	T	0.03008	-1.1083	10	0.21014	T	0.42	-36.0629	15.3883	0.74723	0.0:0.8598:0.1401:0.0	.	57	Q7Z3Z2	RD3_HUMAN	S	57	ENSP00000355969:G57S	ENSP00000355969:G57S	G	-	1	0	RD3	209721212	1.000000	0.71417	0.067000	0.19924	0.142000	0.21351	5.370000	0.66144	1.146000	0.42352	0.561000	0.74099	GGT		0.612	RD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089837.1	NM_183059		5	162	0	0	0	1	0	5	162				
SLC9A4	389015	broad.mit.edu	37	2	103095413	103095413	+	Silent	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:103095413C>A	ENST00000295269.4	+	2	829	c.372C>A	c.(370-372)gtC>gtA	p.V124V		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	124					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.V124V(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CGCCTCCGGTCATGGACTCCA	0.612																																						ENST00000295269.4																			1	Substitution - coding silent(1)	p.V124V(1)	kidney(1)	NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(370-372)gtC>gtA		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4							71.0	66.0	68.0					2																	103095413		2203	4300	6503	SO:0001819	synonymous_variant	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103095413C>A		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.372C>A	2.37:g.103095413C>A			Somatic					p.V124V	NM_001011552.3	NP_001011552.2	WXS	Illumina GAIIx	Phase_I	Q6AI14	SL9A4_HUMAN			2	829	+			124					Q69YK0	Silent	SNP	ENST00000295269.4	37	c.372C>A	CCDS33264.1																																																																																				0.612	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		119	195	1	0	7.93641e-56	1	9.26567e-56	119	195				
RTF1	23168	broad.mit.edu	37	15	41763442	41763442	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr15:41763442G>A	ENST00000389629.4	+	8	1110	c.1098G>A	c.(1096-1098)cgG>cgA	p.R366R		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	366	Plus3. {ECO:0000255|PROSITE- ProRule:PRU00693}.				DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)	p.R241R(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GATTATCACGGCATAAGCTAG	0.458																																						ENST00000389629.4																			1	Substitution - coding silent(1)	p.R241R(1)	kidney(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18						c.(1096-1098)cgG>cgA		Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)							164.0	155.0	158.0					15																	41763442		2203	4300	6503	SO:0001819	synonymous_variant	23168				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	g.chr15:41763442G>A	D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.1098G>A	15.37:g.41763442G>A			Somatic					p.R366R	NM_015138.4	NP_055953.3	WXS	Illumina GAIIx	Phase_I	Q92541	RTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)	8	1110	+		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	366			Plus3.		Q96BX6	Silent	SNP	ENST00000389629.4	37	c.1098G>A	CCDS32200.2																																																																																				0.458	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		5	367	0	0	0	1	0	5	367				
KIAA2018	205717	broad.mit.edu	37	3	113374871	113374871	+	Silent	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr3:113374871A>T	ENST00000478658.1	-	5	5675	c.5658T>A	c.(5656-5658)atT>atA	p.I1886I	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Silent_p.I1886I			Q68DE3	K2018_HUMAN	KIAA2018	1886						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TCCTGGTGTTAATTGCACCTA	0.393																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(5656-5658)atT>atA		KIAA2018							112.0	106.0	108.0					3																	113374871		1915	4134	6049	SO:0001819	synonymous_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113374871A>T	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.5658T>A	3.37:g.113374871A>T			Somatic				KIAA2018_ENST00000478658.1_Silent_p.I1886I|KIAA2018_ENST00000491165.1_Intron	p.I1886I	NM_001009899.2	NP_001009899.2	WXS	Illumina GAIIx	Phase_I	Q68DE3	K2018_HUMAN			7	6068	-			1886					Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	37	c.5658T>A	CCDS43133.1																																																																																				0.393	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		5	210	0	0	0	1	0	5	210				
MYO18B	84700	broad.mit.edu	37	22	26222442	26222442	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr22:26222442C>T	ENST00000407587.2	+	14	2931	c.2762C>T	c.(2761-2763)gCg>gTg	p.A921V	MYO18B_ENST00000335473.7_Missense_Mutation_p.A921V|MYO18B_ENST00000536101.1_Missense_Mutation_p.A921V			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	921	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAACTCTTTGCGGCTGTGGTC	0.537																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(2761-2763)gCg>gTg		myosin XVIIIB							169.0	162.0	164.0					22																	26222442		1954	4145	6099	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26222442C>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2762C>T	22.37:g.26222442C>T	ENSP00000386096:p.Ala921Val		Somatic				MYO18B_ENST00000407587.2_Missense_Mutation_p.A921V|MYO18B_ENST00000536101.1_Missense_Mutation_p.A921V	p.A921V	NM_032608.5	NP_115997.5	WXS	Illumina GAIIx	Phase_I	Q8IUG5	MY18B_HUMAN			14	3012	+			921			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.2762C>T		.	.	.	.	.	.	.	.	.	.	C	7.972	0.749351	0.15710	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87887	-2.31;-2.31;-2.31	4.26	-1.02	0.10135	Myosin head, motor domain (2);	0.427948	0.24717	N	0.036161	T	0.72669	0.3489	L	0.31526	0.94	0.21416	N	0.999698	B;B;B;B	0.14012	0.009;0.003;0.002;0.002	B;B;B;B	0.09377	0.004;0.004;0.002;0.002	T	0.54397	-0.8300	10	0.13470	T	0.59	.	6.1406	0.20257	0.0:0.5622:0.2525:0.1853	.	434;921;921;921	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	V	921	ENSP00000441229:A921V;ENSP00000334563:A921V;ENSP00000386096:A921V	ENSP00000334563:A921V	A	+	2	0	MYO18B	24552442	0.190000	0.23276	0.387000	0.26183	0.843000	0.47879	0.773000	0.26661	0.255000	0.21593	-0.448000	0.05591	GCG		0.537	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		5	569	0	0	0	1	0	5	569				
CTXN3	613212	broad.mit.edu	37	5	126993328	126993328	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr5:126993328A>T	ENST00000379445.3	+	3	666	c.115A>T	c.(115-117)Att>Ttt	p.I39F	CTXN3_ENST00000395322.3_Missense_Mutation_p.I39F|CTC-548H10.2_ENST00000512352.1_RNA	NM_001048252.2	NP_001041717.1	Q4LDR2	CTXN3_HUMAN	cortexin 3	39						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(1)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038)		TCTGTTGTTTATTTTCTTGGG	0.483																																						ENST00000379445.3																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(115-117)Att>Ttt		cortexin 3							158.0	140.0	146.0					5																	126993328		2203	4300	6503	SO:0001583	missense	613212					integral to membrane		g.chr5:126993328A>T	AB219764	CCDS34221.1	5q23.2	2006-09-21				ENSG00000205279			31110	protein-coding gene	gene with protein product							Standard	NM_001048252		Approved		uc003kum.4	Q4LDR2		ENST00000379445.3:c.115A>T	5.37:g.126993328A>T	ENSP00000368758:p.Ile39Phe		Somatic				CTXN3_ENST00000395322.3_Missense_Mutation_p.I39F|CTC-548H10.2_ENST00000512352.1_RNA	p.I39F	NM_001048252.2	NP_001041717.1	WXS	Illumina GAIIx	Phase_I	Q4LDR2	CTXN3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038)	3	666	+		Prostate(80;0.165)	39					B2RV32|D3DQ82	Missense_Mutation	SNP	ENST00000379445.3	37	c.115A>T	CCDS34221.1	.	.	.	.	.	.	.	.	.	.	A	19.69	3.874223	0.72180	.	.	ENSG00000205279	ENST00000379445;ENST00000395322	T;T	0.36157	1.27;1.27	4.52	4.52	0.55395	.	0.112509	0.64402	D	0.000008	T	0.54759	0.1878	.	.	.	0.54753	D	0.999989	D	0.56521	0.976	P	0.59357	0.856	T	0.60419	-0.7267	9	0.72032	D	0.01	-5.1792	14.5686	0.68197	1.0:0.0:0.0:0.0	.	39	Q4LDR2	CTXN3_HUMAN	F	39	ENSP00000368758:I39F;ENSP00000378732:I39F	ENSP00000368758:I39F	I	+	1	0	CTXN3	127021227	0.997000	0.39634	1.000000	0.80357	0.979000	0.70002	2.608000	0.46308	2.254000	0.74563	0.533000	0.62120	ATT		0.483	CTXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372467.1	XM_932841		6	305	0	0	0	1	0	6	305				
XPO5	57510	broad.mit.edu	37	6	43515440	43515440	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr6:43515440G>A	ENST00000265351.7	-	19	2275	c.2065C>T	c.(2065-2067)Ctg>Ttg	p.L689L		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	689					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)	p.L689L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			ACATCTGACAGCACTCTGAAG	0.463																																						ENST00000265351.7																			1	Substitution - coding silent(1)	p.L689L(1)	kidney(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(2065-2067)Ctg>Ttg		exportin 5							90.0	85.0	87.0					6																	43515440		1956	4154	6110	SO:0001819	synonymous_variant	57510				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	g.chr6:43515440G>A	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.2065C>T	6.37:g.43515440G>A			Somatic					p.L689L	NM_020750.2	NP_065801.1	WXS	Illumina GAIIx	Phase_I	Q9HAV4	XPO5_HUMAN	all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)		19	2275	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		689					Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Silent	SNP	ENST00000265351.7	37	c.2065C>T	CCDS47430.1																																																																																				0.463	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		33	103	0	0	0	1	0	33	103				
OPN1SW	611	broad.mit.edu	37	7	128413819	128413819	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr7:128413819A>G	ENST00000249389.2	-	4	810	c.811T>C	c.(811-813)Tac>Cac	p.Y271H		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	271					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						TTGACCATGTACATGGCGAAG	0.532																																						ENST00000249389.2																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						c.(811-813)Tac>Cac		opsin 1 (cone pigments), short-wave-sensitive							172.0	115.0	134.0					7																	128413819		2203	4300	6503	SO:0001583	missense	611				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr7:128413819A>G	U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"""GPCR / Class A : Opsin receptors"""	1012	protein-coding gene	gene with protein product	"""color blindness, tritan"", ""blue-sensitive opsin"""	613522	"""blue cone photoreceptor pigment"""	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.811T>C	7.37:g.128413819A>G	ENSP00000249389:p.Tyr271His		Somatic					p.Y271H	NM_001708.2	NP_001699.1	WXS	Illumina GAIIx	Phase_I	P03999	OPSB_HUMAN			4	810	-			271					Q13877	Missense_Mutation	SNP	ENST00000249389.2	37	c.811T>C	CCDS5806.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.032695	0.75504	.	.	ENSG00000128617	ENST00000249389	T	0.38560	1.13	5.03	5.03	0.67393	GPCR, rhodopsin-like superfamily (1);	0.211078	0.42682	D	0.000668	T	0.70307	0.3209	M	0.92459	3.31	0.51482	D	0.999926	D	0.69078	0.997	D	0.71656	0.974	T	0.78214	-0.2291	10	0.87932	D	0	.	12.7568	0.57339	1.0:0.0:0.0:0.0	.	271	P03999	OPSB_HUMAN	H	271	ENSP00000249389:Y271H	ENSP00000249389:Y271H	Y	-	1	0	OPN1SW	128201055	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.879000	0.75572	2.119000	0.64992	0.533000	0.62120	TAC		0.532	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350655.1	NM_001708		4	196	0	0	0	1	0	4	196				
LRR1	122769	broad.mit.edu	37	14	50080990	50080990	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr14:50080990C>T	ENST00000298288.6	+	4	1345	c.1021C>T	c.(1021-1023)Cat>Tat	p.H341Y	LRR1_ENST00000318317.4_Missense_Mutation_p.S100L	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN	leucine rich repeat protein 1	341					protein ubiquitination (GO:0016567)					kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ATATGGCTCTCATATCATTCC	0.328																																						ENST00000298288.6																			0				kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(1021-1023)Cat>Tat		leucine rich repeat protein 1							75.0	73.0	74.0					14																	50080990		2203	4300	6503	SO:0001583	missense	122769							g.chr14:50080990C>T	BC030142	CCDS9686.1, CCDS9687.1	14q21.3	2011-02-02	2011-02-02	2011-02-02	ENSG00000165501	ENSG00000165501			19742	protein-coding gene	gene with protein product	"""LRR-repeat protein 1"""	609193	"""peptidylprolyl isomerase (cyclophilin)-like 5"""	PPIL5		11804328, 21074724	Standard	NR_037792		Approved	MGC20689, LRR-1	uc001wwn.3	Q96L50	OTTHUMG00000140273	ENST00000298288.6:c.1021C>T	14.37:g.50080990C>T	ENSP00000298288:p.His341Tyr		Somatic				LRR1_ENST00000318317.4_Missense_Mutation_p.S100L	p.H341Y	NM_152329.3	NP_689542.2	WXS	Illumina GAIIx	Phase_I	Q96L50	LLR1_HUMAN			4	1345	+			341					A5D6X3|B4DDE0|Q52M24|Q86SZ1|Q8N6H9	Missense_Mutation	SNP	ENST00000298288.6	37	c.1021C>T	CCDS9686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.044|6.044	0.376438|0.376438	0.11466|0.11466	.|.	.|.	ENSG00000165501|ENSG00000165501	ENST00000298288|ENST00000318317	T|.	0.40225|.	1.04|.	5.55|5.55	1.49|1.49	0.22878|0.22878	.|.	0.378422|.	0.32002|.	N|.	0.006725|.	T|T	0.44644|0.44644	0.1303|0.1303	L|L	0.39020|0.39020	1.185|1.185	0.21627|0.21627	N|N	0.999617|0.999617	B|P	0.33448|0.45827	0.412|0.867	B|P	0.28011|0.48030	0.085|0.564	T|T	0.48958|0.48958	-0.8988|-0.8988	10|8	0.09843|0.66056	T|D	0.71|0.02	0.4502|0.4502	18.1915|18.1915	0.89808|0.89808	0.0:0.5294:0.4706:0.0|0.0:0.5294:0.4706:0.0	.|.	341|100	Q96L50|Q96L50-2	LLR1_HUMAN|.	Y|L	341|100	ENSP00000298288:H341Y|.	ENSP00000298288:H341Y|ENSP00000315628:S100L	H|S	+|+	1|2	0|0	LRR1|LRR1	49150740|49150740	1.000000|1.000000	0.71417|0.71417	0.006000|0.006000	0.13384|0.13384	0.385000|0.385000	0.30292|0.30292	1.818000|1.818000	0.39012|0.39012	0.067000|0.067000	0.16545|0.16545	0.650000|0.650000	0.86243|0.86243	CAT|TCA		0.328	LRR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410790.1	NM_203467		5	21	0	0	0	1	0	5	21				
LRRC7	57554	broad.mit.edu	37	1	70144085	70144085	+	Silent	SNP	A	A	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:70144085A>G	ENST00000370958.1	+	2	214	c.24A>G	c.(22-24)ggA>ggG	p.G8G	LRRC7_ENST00000310961.5_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	0						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.G8G(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TAATAAGGGGAAGGAATCCCC	0.383																																						ENST00000370958.1																			1	Substitution - coding silent(1)	p.G8G(1)	kidney(1)	breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(22-24)ggA>ggG		leucine rich repeat containing 7							20.0	19.0	19.0					1																	70144085		876	1991	2867	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70144085A>G		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000370958.1:c.24A>G	1.37:g.70144085A>G			Somatic				LRRC7_ENST00000310961.5_5'UTR	p.G8G			WXS	Illumina GAIIx	Phase_I	Q96NW7	LRRC7_HUMAN			2	214	+			0					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000370958.1	37	c.24A>G																																																																																					0.383	LRRC7-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000131263.1	NM_020794		5	10	0	0	0	1	0	5	10				
MUC16	94025	broad.mit.edu	37	19	9048933	9048933	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr19:9048933G>C	ENST00000397910.4	-	5	32901	c.32698C>G	c.(32698-32700)Cct>Gct	p.P10900A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10902	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						GGTTCACCAGGAGAAAGAGTC	0.493																																						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.(32698-32700)Cct>Gct		mucin 16, cell surface associated							122.0	109.0	113.0					19																	9048933		1903	4131	6034	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9048933G>C	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.32698C>G	19.37:g.9048933G>C	ENSP00000381008:p.Pro10900Ala		Somatic					p.P10900A	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			5	32901	-			10902			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.32698C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.649	-0.071836	0.07228	.	.	ENSG00000181143	ENST00000397910	T	0.03094	4.05	3.18	-1.84	0.07809	.	.	.	.	.	T	0.03390	0.0098	L	0.48642	1.525	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.44283	-0.9338	8	0.87932	D	0	.	1.6095	0.02690	0.1273:0.1352:0.3405:0.397	.	10900	B5ME49	.	A	10900	ENSP00000381008:P10900A	ENSP00000381008:P10900A	P	-	1	0	MUC16	8909933	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.232000	0.02936	-0.350000	0.08262	-1.606000	0.00808	CCT		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	983	0	0	0	1	0	7	983				
PDZRN4	29951	broad.mit.edu	37	12	41966265	41966265	+	Silent	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr12:41966265T>C	ENST00000402685.2	+	10	1692	c.1684T>C	c.(1684-1686)Ttg>Ctg	p.L562L	PDZRN4_ENST00000298919.7_Silent_p.L302L|PDZRN4_ENST00000539469.2_Silent_p.L304L	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	562							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGATGAAAGCTTGCGAAATGA	0.493																																						ENST00000298919.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(904-906)Ttg>Ctg		PDZ domain containing ring finger 4							108.0	92.0	98.0					12																	41966265		2203	4300	6503	SO:0001819	synonymous_variant	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966265T>C	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1684T>C	12.37:g.41966265T>C			Somatic				PDZRN4_ENST00000402685.2_Silent_p.L562L|PDZRN4_ENST00000539469.2_Silent_p.L304L	p.L302L			WXS	Illumina GAIIx	Phase_I	Q6ZMN7	PZRN4_HUMAN			10	1292	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	562			PDZ 1.		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Silent	SNP	ENST00000402685.2	37	c.904T>C	CCDS53777.1																																																																																				0.493	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		3	320	0	0	0	1	0	3	320				
ILDR1	286676	broad.mit.edu	37	3	121724198	121724198	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr3:121724198T>A	ENST00000344209.5	-	3	398	c.272A>T	c.(271-273)gAc>gTc	p.D91V	ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.D103V|ILDR1_ENST00000393631.1_Missense_Mutation_p.D91V|ILDR1_ENST00000273691.3_Missense_Mutation_p.D91V	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	91	Ig-like V-type.				positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)	p.D91V(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GTCGTTGCAGTCATTGGATGG	0.577																																						ENST00000273691.3																			2	Substitution - Missense(2)	p.D91V(2)	kidney(2)	central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(271-273)gAc>gTc		immunoglobulin-like domain containing receptor 1							65.0	64.0	64.0					3																	121724198		2203	4300	6503	SO:0001583	missense	286676					cytosol|integral to membrane|plasma membrane	receptor activity	g.chr3:121724198T>A	BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"""deafness, autosomal recessive 42"""	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.272A>T	3.37:g.121724198T>A	ENSP00000345667:p.Asp91Val		Somatic				ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Missense_Mutation_p.D91V|ILDR1_ENST00000393631.1_Missense_Mutation_p.D91V|ILDR1_ENST00000462014.1_Missense_Mutation_p.D103V	p.D91V	NM_175924.3	NP_787120.1	WXS	Illumina GAIIx	Phase_I	Q86SU0	ILDR1_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	3	377	-			91			Ig-like V-type.		Q6ZP61|Q7Z578	Missense_Mutation	SNP	ENST00000344209.5	37	c.272A>T	CCDS56271.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.591922	0.86953	.	.	ENSG00000145103	ENST00000273691;ENST00000344209;ENST00000383663;ENST00000393631;ENST00000462014	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.62	5.62	0.85841	Immunoglobulin subtype (1);	0.000000	0.85682	D	0.000000	T	0.72724	0.3496	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.999;1.0	T	0.76556	-0.2916	10	0.87932	D	0	-26.7101	14.0659	0.64828	0.0:0.0:0.0:1.0	.	91;91;91;103	Q86SU0-5;Q86SU0;Q86SU0-2;Q86SU0-6	.;ILDR1_HUMAN;.;.	V	91;91;91;91;103	ENSP00000273691:D91V;ENSP00000345667:D91V;ENSP00000377251:D91V;ENSP00000419414:D103V	ENSP00000273691:D91V	D	-	2	0	ILDR1	123206888	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.651000	0.83577	2.257000	0.74773	0.455000	0.32223	GAC		0.577	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1	NM_175924		23	86	0	0	0	1	0	23	86				
BRWD3	254065	broad.mit.edu	37	X	79932277	79932277	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chrX:79932277A>T	ENST00000373275.4	-	41	5456	c.5240T>A	c.(5239-5241)aTt>aAt	p.I1747N	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1747					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCTTGTTTTAATTCGAGGCAG	0.413																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(5239-5241)aTt>aAt		bromodomain and WD repeat domain containing 3							120.0	96.0	104.0					X																	79932277		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79932277A>T		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.5240T>A	X.37:g.79932277A>T	ENSP00000362372:p.Ile1747Asn		Somatic					p.I1747N	NM_153252.4	NP_694984.4	WXS	Illumina GAIIx	Phase_I	Q6RI45	BRWD3_HUMAN			41	5456	-			1747					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.5240T>A	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	A	12.06	1.824725	0.32237	.	.	ENSG00000165288	ENST00000373275	T	0.58210	0.35	4.1	4.1	0.47936	.	0.060872	0.64402	D	0.000004	T	0.45597	0.1350	N	0.14661	0.345	0.45747	D	0.998642	D	0.61080	0.989	P	0.53912	0.737	T	0.36986	-0.9725	9	.	.	.	-12.8188	12.7589	0.57352	1.0:0.0:0.0:0.0	.	1747	Q6RI45	BRWD3_HUMAN	N	1747	ENSP00000362372:I1747N	.	I	-	2	0	BRWD3	79818933	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.163000	0.89659	1.650000	0.50662	0.356000	0.21956	ATT		0.413	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		4	190	0	0	0	1	0	4	190				
P2RY11	5032	broad.mit.edu	37	19	10225224	10225224	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr19:10225224T>C	ENST00000321826.4	+	2	1119	c.935T>C	c.(934-936)cTg>cCg	p.L312P	PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.L732P|PPAN_ENST00000556468.1_Missense_Mutation_p.L732P	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11	312					activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)	p.L312P(1)|p.L732P(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CTCATGCCCCTGGCCTTCTGT	0.672																																						ENST00000556468.1																			2	Substitution - Missense(2)	p.L312P(1)|p.L732P(1)	kidney(2)	endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(2194-2196)cTg>cCg		peter pan homolog (Drosophila)							45.0	50.0	48.0					19																	10225224		2203	4300	6503	SO:0001583	missense	56342							g.chr19:10225224T>C	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166	ENST00000321826.4:c.935T>C	19.37:g.10225224T>C	ENSP00000323872:p.Leu312Pro		Somatic				P2RY11_ENST00000321826.4_Missense_Mutation_p.L312P|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.L732P|PPAN-P2RY11_ENST00000428358.1_3'UTR	p.L732P			WXS	Illumina GAIIx	Phase_I			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		13	2222	+								B2R8X9|O43190|Q9BYU4|Q9H170	Missense_Mutation	SNP	ENST00000321826.4	37	c.2195T>C	CCDS12226.1	.	.	.	.	.	.	.	.	.	.	t	18.08	3.543504	0.65198	.	.	ENSG00000243207;ENSG00000130810;ENSG00000244165	ENST00000393796;ENST00000556468;ENST00000321826	T;T;T	0.44881	0.91;0.91;0.91	3.9	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.211174	0.31268	U	0.007948	T	0.64800	0.2631	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.70410	-0.4879	10	0.87932	D	0	-9.7896	10.7491	0.46198	0.0:0.0:0.0:1.0	.	312	Q96G91	P2Y11_HUMAN	P	732;732;312	ENSP00000377385:L732P;ENSP00000450710:L732P;ENSP00000323872:L312P	ENSP00000323872:L312P	L	+	2	0	PPAN;P2RY11;PPAN-P2RY11	10086224	0.993000	0.37304	0.971000	0.41717	0.805000	0.45488	2.280000	0.43443	1.645000	0.50612	0.454000	0.30748	CTG		0.672	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566		21	49	0	0	0	1	0	21	49				
LHX2	9355	broad.mit.edu	37	9	126783560	126783560	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr9:126783560G>T	ENST00000373615.4	+	4	1649	c.910G>T	c.(910-912)Ggc>Tgc	p.G304C		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	304					axon extension (GO:0048675)|axon guidance (GO:0007411)|cerebral cortex development (GO:0021987)|dorsal/ventral pattern formation (GO:0009953)|mesoderm development (GO:0007498)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural tube closure (GO:0001843)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|retina development in camera-type eye (GO:0060041)|telencephalon regionalization (GO:0021978)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.G304C(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						GCAAAAGACGGGCCTCACCAA	0.632																																						ENST00000373615.4																			1	Substitution - Missense(1)	p.G304C(1)	kidney(1)	endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						c.(910-912)Ggc>Tgc		LIM homeobox 2							59.0	54.0	55.0					9																	126783560		2203	4300	6503	SO:0001583	missense	9355					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:126783560G>T	U11701	CCDS6853.1	9q33.3	2011-06-20			ENSG00000106689	ENSG00000106689		"""Homeoboxes / LIM class"""	6594	protein-coding gene	gene with protein product		603759				8649822, 10051612	Standard	NM_004789		Approved	LH-2, hLhx2	uc004boe.1	P50458	OTTHUMG00000020647	ENST00000373615.4:c.910G>T	9.37:g.126783560G>T	ENSP00000362717:p.Gly304Cys		Somatic					p.G304C	NM_004789.3	NP_004780.3	WXS	Illumina GAIIx	Phase_I	P50458	LHX2_HUMAN			4	1649	+			304					O95860|Q52M57|Q8N1Z3	Missense_Mutation	SNP	ENST00000373615.4	37	c.910G>T	CCDS6853.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.9|24.9	4.579194|4.579194	0.86645|0.86645	.|.	.|.	ENSG00000106689|ENSG00000106689	ENST00000373615|ENST00000446480	D|.	0.96856|.	-4.15|.	4.98|4.98	4.98|4.98	0.66077|0.66077	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.78717|0.78717	0.4327|0.4327	M|M	0.83603|0.83603	2.65|2.65	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.81046|0.81046	-0.1110|-0.1110	10|6	0.87932|.	D|.	0|.	.|.	17.2507|17.2507	0.87041|0.87041	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	304;304|.	B3KNJ5;P50458|.	.;LHX2_HUMAN|.	C|V	304|309	ENSP00000362717:G304C|.	ENSP00000362717:G304C|.	G|G	+|+	1|2	0|0	LHX2|LHX2	125823381|125823381	1.000000|1.000000	0.71417|0.71417	0.942000|0.942000	0.38095|0.38095	0.993000|0.993000	0.82548|0.82548	9.471000|9.471000	0.97696|0.97696	2.291000|2.291000	0.77112|0.77112	0.561000|0.561000	0.74099|0.74099	GGC|GGG		0.632	LHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054010.2			22	29	1	0	2.32416e-17	1	2.61055e-17	22	29				
LHX5	64211	broad.mit.edu	37	12	113907149	113907149	+	Splice_Site	SNP	G	G	T	rs202027707		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr12:113907149G>T	ENST00000261731.3	-	2	748	c.175C>A	c.(175-177)Cgc>Agc	p.R59S	RP11-82C23.2_ENST00000551357.2_RNA|LHX5_ENST00000557836.1_5'Flank	NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	59	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation in forebrain (GO:0021846)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|forebrain neuron differentiation (GO:0021879)|hippocampus development (GO:0021766)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						GTGCCAAAGCGCCTGTGGACA	0.632																																						ENST00000261731.3																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						c.e2-1		LIM homeobox 5							49.0	46.0	47.0					12																	113907149		2203	4299	6502	SO:0001630	splice_region_variant	64211					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:113907149G>T	AF291181	CCDS9171.1	12q24.13	2014-01-15			ENSG00000089116	ENSG00000089116		"""Homeoboxes / LIM class"""	14216	protein-coding gene	gene with protein product		605992					Standard	NM_022363		Approved		uc001tvj.1	Q9H2C1	OTTHUMG00000169552	ENST00000261731.3:c.174-1C>A	12.37:g.113907149G>T			Somatic					p.R59_splice	NM_022363.2	NP_071758.1	WXS	Illumina GAIIx	Phase_I	Q9H2C1	LHX5_HUMAN			2	748	-			59			LIM zinc-binding 1.		Q32MA4	Splice_Site	SNP	ENST00000261731.3	37	c.173_splice	CCDS9171.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675602	0.67928	.	.	ENSG00000089116	ENST00000261731	D	0.87256	-2.23	5.16	5.16	0.70880	Zinc finger, LIM-type (3);	0.000000	0.49305	D	0.000144	D	0.88340	0.6410	M	0.85777	2.775	0.80722	D	1	P	0.36753	0.568	B	0.38428	0.273	D	0.89347	0.3658	10	0.66056	D	0.02	.	11.7601	0.51898	0.0:0.0:0.7036:0.2964	.	59	Q9H2C1	LHX5_HUMAN	S	59	ENSP00000261731:R59S	ENSP00000261731:R59S	R	-	1	0	LHX5	112391532	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	3.082000	0.50128	2.420000	0.82092	0.561000	0.74099	CGC		0.632	LHX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404788.3	NM_022363	Missense_Mutation	12	133	1	0	0.010729	1	0.0108666	12	133				
SPPL3	121665	broad.mit.edu	37	12	121221557	121221557	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr12:121221557T>A	ENST00000353487.2	-	5	814		c.e5-2			NM_139015.4	NP_620584.2	Q8TCT6	SPPL3_HUMAN	signal peptide peptidase like 3							Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTGCAAGAACTAGAGAAAGAA	0.378																																						ENST00000353487.2																			0											c.e5-2		signal peptide peptidase like 3							62.0	63.0	63.0					12																	121221557		2203	4300	6503	SO:0001630	splice_region_variant	121665					integral to membrane	aspartic-type endopeptidase activity	g.chr12:121221557T>A		CCDS9208.1	12q24.31	2012-02-21			ENSG00000157837	ENSG00000157837			30424	protein-coding gene	gene with protein product	"""intramembrane protease 2"", ""presenilin-like protein 4"""	608240				12139484	Standard	NM_139015		Approved	IMP2, PSL4, MGC90402, MGC126674, MGC126676, DKFZP586C1324	uc001tzd.3	Q8TCT6	OTTHUMG00000169232	ENST00000353487.2:c.311-2A>T	12.37:g.121221557T>A			Somatic						NM_139015.4	NP_620584.2	WXS	Illumina GAIIx	Phase_I	Q8TCT6	PSL4_HUMAN			5	814	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)							Q3MJ04|Q8TAU4|Q96DD9	Splice_Site	SNP	ENST00000353487.2	37		CCDS9208.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.564247	0.86335	.	.	ENSG00000157837	ENST00000353487;ENST00000405631;ENST00000536996;ENST00000543608;ENST00000543854;ENST00000543181	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9067	0.79436	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	AC069214.1	119705940	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.432000	0.80349	2.241000	0.73720	0.533000	0.62120	.		0.378	SPPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402980.2	NM_139015	Intron	4	46	0	0	0	1	0	4	46				
SIM1	6492	broad.mit.edu	37	6	100841464	100841464	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr6:100841464C>A	ENST00000369208.3	-	11	2251	c.1469G>T	c.(1468-1470)tGg>tTg	p.W490L	SIM1_ENST00000262901.4_Missense_Mutation_p.W490L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	490	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.W490L(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GCGAGAGCCCCACCAGGGCTC	0.607																																						ENST00000369208.3																			1	Substitution - Missense(1)	p.W490L(1)	kidney(1)	breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(1468-1470)tGg>tTg		single-minded family bHLH transcription factor 1							65.0	69.0	68.0					6																	100841464		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100841464C>A	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1469G>T	6.37:g.100841464C>A	ENSP00000358210:p.Trp490Leu		Somatic				SIM1_ENST00000262901.4_Missense_Mutation_p.W490L	p.W490L			WXS	Illumina GAIIx	Phase_I	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	11	2251	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	490			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.1469G>T	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	32	5.186202	0.94885	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.64085	-0.08;-0.08	5.78	5.78	0.91487	Single-minded, C-terminal (2);	0.105625	0.64402	D	0.000002	T	0.65196	0.2668	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	D	0.66196	0.942	T	0.64063	-0.6495	10	0.45353	T	0.12	.	20.0086	0.97443	0.0:1.0:0.0:0.0	.	490	P81133	SIM1_HUMAN	L	490	ENSP00000358210:W490L;ENSP00000262901:W490L	ENSP00000262901:W490L	W	-	2	0	SIM1	100948185	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.487000	0.81328	2.731000	0.93534	0.655000	0.94253	TGG		0.607	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		25	53	1	0	9.04412e-07	1	9.6989e-07	25	53				
NEB	4703	broad.mit.edu	37	2	152497182	152497182	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:152497182T>A	ENST00000172853.10	-	61	8521		c.e61-2		NEB_ENST00000409198.1_Splice_Site|NEB_ENST00000427231.2_Splice_Site|NEB_ENST00000603639.1_Splice_Site|NEB_ENST00000397345.3_Splice_Site|NEB_ENST00000604864.1_Splice_Site			P20929	NEBU_HUMAN	nebulin						muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTACTTGAACTAAAAGAAGAA	0.398																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.e61-2		nebulin							72.0	67.0	69.0					2																	152497182		1838	4081	5919	SO:0001630	splice_region_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152497182T>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.8374-2A>T	2.37:g.152497182T>A			Somatic				NEB_ENST00000603639.1_Splice_Site|NEB_ENST00000397345.3_Splice_Site|NEB_ENST00000604864.1_Splice_Site|NEB_ENST00000409198.1_Splice_Site|NEB_ENST00000172853.10_Splice_Site		NM_001164507.1	NP_001157979.1	WXS	Illumina GAIIx	Phase_I	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	61	8576	-								F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Splice_Site	SNP	ENST00000172853.10	37			.	.	.	.	.	.	.	.	.	.	T	25.3	4.623791	0.87460	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NEB	152205428	1.000000	0.71417	0.984000	0.44739	0.886000	0.51366	7.991000	0.88244	2.371000	0.80710	0.533000	0.62120	.		0.398	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	Intron	4	154	0	0	0	1	0	4	154				
PDE11A	50940	broad.mit.edu	37	2	178576587	178576587	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:178576587A>T	ENST00000286063.6	-	13	2380	c.2063T>A	c.(2062-2064)aTt>aAt	p.I688N	PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Missense_Mutation_p.I330N|AC012499.1_ENST00000412133.1_RNA|AC012499.1_ENST00000450227.1_RNA|PDE11A_ENST00000358450.4_Missense_Mutation_p.I438N|PDE11A_ENST00000389683.3_Missense_Mutation_p.I244N|PDE11A_ENST00000449286.2_Missense_Mutation_p.I330N	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	688	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	CTCGGTCAGAATGTCTTGAAA	0.498									Primary Pigmented Nodular Adrenocortical Disease, Familial																													ENST00000286063.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58						c.(2062-2064)aTt>aAt		phosphodiesterase 11A							96.0	79.0	85.0					2																	178576587		2203	4300	6503	SO:0001583	missense	50940	Primary Pigmented Nodular Adrenocortical Disease, Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178576587A>T	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.2063T>A	2.37:g.178576587A>T	ENSP00000286063:p.Ile688Asn		Somatic				AC012499.1_ENST00000412133.1_RNA|PDE11A_ENST00000449286.2_Missense_Mutation_p.I330N|PDE11A_ENST00000409504.1_Missense_Mutation_p.I330N|PDE11A_ENST00000389683.3_Missense_Mutation_p.I244N|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000358450.4_Missense_Mutation_p.I438N|AC012499.1_ENST00000450227.1_RNA	p.I688N	NM_016953.3	NP_058649.3	WXS	Illumina GAIIx	Phase_I	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		13	2380	-			688			Catalytic (By similarity).		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.2063T>A	CCDS33334.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.88|13.88	2.368364|2.368364	0.42003|0.42003	.|.	.|.	ENSG00000128655|ENSG00000128655	ENST00000433879|ENST00000286063;ENST00000358450;ENST00000409504;ENST00000389683;ENST00000449286	.|D;D;D;D;D	.|0.81739	.|-1.53;-1.53;-1.53;-1.53;-1.53	5.63|5.63	5.63|5.63	0.86233|0.86233	.|Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	.|0.314095	.|0.38164	.|N	.|0.001781	T|T	0.70351|0.70351	0.3214|0.3214	N|N	0.17594|0.17594	0.5|0.5	0.80722|0.80722	D|D	1|1	.|B;B	.|0.34015	.|0.435;0.418	.|B;B	.|0.34242	.|0.076;0.178	T|T	0.73266|0.73266	-0.4037|-0.4037	5|10	.|0.59425	.|D	.|0.04	.|.	16.1307|16.1307	0.81436|0.81436	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|438;688	.|Q9HCR9-2;Q9HCR9	.|.;PDE11_HUMAN	I|N	296|688;438;330;244;330	.|ENSP00000286063:I688N;ENSP00000351232:I438N;ENSP00000386539:I330N;ENSP00000374333:I244N;ENSP00000390599:I330N	.|ENSP00000286063:I688N	F|I	-|-	1|2	0|0	PDE11A|PDE11A	178284833|178284833	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.071000|4.071000	0.57556|0.57556	2.263000|2.263000	0.75096|0.75096	0.533000|0.533000	0.62120|0.62120	TTC|ATT		0.498	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			49	167	0	0	0	1	0	49	167				
SF3B1	23451	broad.mit.edu	37	2	198265658	198265658	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:198265658T>A	ENST00000335508.6	-	18	2590	c.2499A>T	c.(2497-2499)ttA>ttT	p.L833F	SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	833					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TAGTATCAACTAACTAAAAAG	0.328			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(2497-2499)ttA>ttT		splicing factor 3b, subunit 1, 155kDa							53.0	53.0	53.0					2																	198265658		2201	4299	6500	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198265658T>A	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2499A>T	2.37:g.198265658T>A	ENSP00000335321:p.Leu833Phe		Somatic					p.L833F	NM_012433.2	NP_036565.2	WXS	Illumina GAIIx	Phase_I	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		18	2590	-			833					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.2499A>T	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.959700	0.74016	.	.	ENSG00000115524	ENST00000335508	T	0.66280	-0.2	5.77	2.15	0.27550	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77698	0.4169	M	0.91038	3.17	0.80722	D	1	D	0.62365	0.991	P	0.62649	0.905	T	0.77262	-0.2653	10	0.87932	D	0	.	6.8117	0.23809	0.0:0.447:0.0:0.553	.	833	O75533	SF3B1_HUMAN	F	833	ENSP00000335321:L833F	ENSP00000335321:L833F	L	-	3	2	SF3B1	197973903	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.868000	0.56055	0.540000	0.28808	0.533000	0.62120	TTA		0.328	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			3	37	0	0	0	1	0	3	37				
ZCCHC5	203430	broad.mit.edu	37	X	77913051	77913051	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chrX:77913051C>A	ENST00000321110.1	-	2	1162	c.867G>T	c.(865-867)tgG>tgT	p.W289C		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	289							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.W289C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GCTGGAACCACCATCCTGCCC	0.468																																						ENST00000321110.1																			1	Substitution - Missense(1)	p.W289C(1)	kidney(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						c.(865-867)tgG>tgT		zinc finger, CCHC domain containing 5							41.0	38.0	39.0					X																	77913051		2203	4299	6502	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77913051C>A	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.867G>T	X.37:g.77913051C>A	ENSP00000316794:p.Trp289Cys		Somatic					p.W289C	NM_152694.2	NP_689907.1	WXS	Illumina GAIIx	Phase_I	Q8N8U3	ZCHC5_HUMAN			2	1162	-			289					B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.867G>T	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.438295	0.01098	.	.	ENSG00000179300	ENST00000321110	T	0.17370	2.28	3.36	-3.53	0.04667	.	0.761213	0.10696	U	0.644579	T	0.04998	0.0134	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30416	-0.9979	10	0.56958	D	0.05	.	3.6209	0.08096	0.3214:0.2004:0.0:0.4781	.	289	Q8N8U3	ZCHC5_HUMAN	C	289	ENSP00000316794:W289C	ENSP00000316794:W289C	W	-	3	0	ZCCHC5	77799707	0.001000	0.12720	0.000000	0.03702	0.156000	0.22039	-0.537000	0.06128	-1.209000	0.02631	-0.324000	0.08512	TGG		0.468	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		9	29	1	0	0.00829132	1	0.00843366	9	29				
AFTPH	54812	broad.mit.edu	37	2	64779884	64779884	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:64779884G>C	ENST00000422803.1	+	2	1590	c.1276G>C	c.(1276-1278)Gat>Cat	p.D426H	AFTPH_ENST00000409183.1_Missense_Mutation_p.D57H|AFTPH_ENST00000238855.7_Missense_Mutation_p.D426H|AFTPH_ENST00000238856.4_Missense_Mutation_p.D426H|AFTPH_ENST00000409933.1_Missense_Mutation_p.D426H			Q6ULP2	AFTIN_HUMAN	aftiphilin	426					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)	p.D426H(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GACTTGCAATGATATCAATGA	0.378																																						ENST00000422803.1																			2	Substitution - Missense(2)	p.D426H(2)	kidney(2)	breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(1276-1278)Gat>Cat		aftiphilin							164.0	158.0	160.0					2																	64779884		2203	4300	6503	SO:0001583	missense	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64779884G>C	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.1276G>C	2.37:g.64779884G>C	ENSP00000397726:p.Asp426His		Somatic				AFTPH_ENST00000238856.4_Missense_Mutation_p.D426H|AFTPH_ENST00000409933.1_Missense_Mutation_p.D426H|AFTPH_ENST00000238855.7_Missense_Mutation_p.D426H|AFTPH_ENST00000409183.1_Missense_Mutation_p.D57H	p.D426H			WXS	Illumina GAIIx	Phase_I	Q6ULP2	AFTIN_HUMAN			2	1590	+			426					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37	c.1276G>C		.	.	.	.	.	.	.	.	.	.	G	10.90	1.480957	0.26598	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933;ENST00000409183	T;T;T;T;T	0.47869	1.65;1.65;1.8;1.8;0.83	5.65	3.78	0.43462	.	0.354390	0.28482	N	0.015182	T	0.55625	0.1932	M	0.62723	1.935	0.09310	N	1	P;P;D;D	0.69078	0.729;0.729;0.997;0.997	B;P;P;P	0.59761	0.345;0.545;0.863;0.863	T	0.47636	-0.9102	10	0.54805	T	0.06	-2.257	6.042	0.19740	0.2194:0.1398:0.6408:0.0	.	426;426;426;426	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	H	426;426;426;426;57	ENSP00000238856:D426H;ENSP00000397726:D426H;ENSP00000238855:D426H;ENSP00000387071:D426H;ENSP00000386913:D57H	ENSP00000238855:D426H	D	+	1	0	AFTPH	64633388	0.104000	0.21937	0.742000	0.31022	0.715000	0.41141	1.306000	0.33505	1.381000	0.46364	0.650000	0.86243	GAT		0.378	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		28	225	0	0	0	1	0	28	225				
PPFIA1	8500	broad.mit.edu	37	11	70184559	70184559	+	Splice_Site	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr11:70184559G>A	ENST00000253925.7	+	13	1786	c.1571G>A	c.(1570-1572)gGc>gAc	p.G524D	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Splice_Site_p.G524D	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	524					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)	p.G524D(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CTTCATCATGGGTATGGTATT	0.478																																						ENST00000253925.7																			1	Substitution - Missense(1)	p.G524D(1)	kidney(1)	breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.e13+1		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1							103.0	97.0	99.0					11																	70184559		2200	4294	6494	SO:0001630	splice_region_variant	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70184559G>A	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.1571+1G>A	11.37:g.70184559G>A			Somatic				PPFIA1_ENST00000389547.3_Splice_Site_p.G524_splice|AP000487.6_ENST00000528607.1_RNA	p.G524_splice	NM_003626.3	NP_003617.1	WXS	Illumina GAIIx	Phase_I	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		13	1786	+			524					A6NLE3|Q13135|Q14567|Q8N4I2	Splice_Site	SNP	ENST00000253925.7	37	c.1571_splice	CCDS31627.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.36|16.36	3.100327|3.100327	0.56183|0.56183	.|.	.|.	ENSG00000131626|ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950|ENST00000530798	T;T|.	0.36340|.	1.26;1.26|.	4.45|4.45	4.45|4.45	0.53987|0.53987	.|.	0.309756|.	0.32068|.	U|.	0.006635|.	T|.	0.58235|.	0.2108|.	L|L	0.36672|0.36672	1.1|1.1	0.53688|0.53688	D|D	0.999971|0.999971	B;B|.	0.20164|.	0.042;0.003|.	B;B|.	0.22601|.	0.04;0.002|.	T|.	0.55256|.	-0.8169|.	10|.	0.42905|.	T|.	0.14|.	.|.	16.0826|16.0826	0.81014|0.81014	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	524;524|.	Q13136;Q13136-2|.	LIPA1_HUMAN;.|.	D|X	524;524;11|75	ENSP00000253925:G524D;ENSP00000374198:G524D|.	ENSP00000253925:G524D|.	G|W	+|+	2|3	0|0	PPFIA1|PPFIA1	69862207|69862207	1.000000|1.000000	0.71417|0.71417	0.715000|0.715000	0.30552|0.30552	0.893000|0.893000	0.52053|0.52053	7.818000|7.818000	0.86416|0.86416	2.217000|2.217000	0.71921|0.71921	0.655000|0.655000	0.94253|0.94253	GGC|TGG		0.478	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626	Missense_Mutation	16	44	0	0	0	1	0	16	44				
CES1	1066	broad.mit.edu	37	16	55862744	55862744	+	Silent	SNP	C	C	T	rs376785712		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr16:55862744C>T	ENST00000361503.4	-	2	322	c.192G>A	c.(190-192)agG>agA	p.R64R	CES1_ENST00000422046.2_Silent_p.R64R|CES1_ENST00000566555.1_5'Flank|CES1_ENST00000360526.3_Silent_p.R65R			P23141	EST1_HUMAN	carboxylesterase 1	64				R -> G (in Ref. 18; CAA37147). {ECO:0000305}.	epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	GTGGAGTAAACCTCAGGGGTC	0.542													.|||	1	0.000199681	0.0008	0.0	5008	,	,		29463	0.0		0.0	False		,,,				2504	0.0				NSCLC(162;1801 2756 42904 52896)	ENST00000422046.2																			0											c.(190-192)agG>agA		carboxylesterase 1	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	C	,,	0,4396		0,0,2198	103.0	100.0	101.0		192,195,192	0.8	1.0	16		101	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	CES1	NM_001025194.1,NM_001025195.1,NM_001266.4	,,	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	,,	64/568,65/569,64/567	55862744	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55862744C>T	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.192G>A	16.37:g.55862744C>T			Somatic				CES1_ENST00000360526.3_Silent_p.R65R|CES1_ENST00000361503.4_Silent_p.R64R	p.R64R			WXS	Illumina GAIIx	Phase_I	P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	2	473	-			64	R -> G (in Ref. 18; CAA37147).				A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Silent	SNP	ENST00000361503.4	37	c.192G>A	CCDS45488.1																																																																																				0.542	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		11	203	0	0	0	1	0	11	203				
ADAM21	8747	broad.mit.edu	37	14	70925009	70925009	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr14:70925009A>T	ENST00000603540.1	+	2	1051	c.793A>T	c.(793-795)Aat>Tat	p.N265Y	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.N265Y	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	265	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N265Y(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GAATCAAGGAAATGTTTTCCC	0.368																																						ENST00000603540.1																			2	Substitution - Missense(2)	p.N265Y(2)	kidney(2)	central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31						c.(793-795)Aat>Tat		ADAM metallopeptidase domain 21							63.0	64.0	64.0					14																	70925009		2203	4300	6503	SO:0001583	missense	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70925009A>T	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.793A>T	14.37:g.70925009A>T	ENSP00000474385:p.Asn265Tyr		Somatic				RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.N265Y	p.N265Y	NM_003813.3	NP_003804.2	WXS	Illumina GAIIx	Phase_I	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	1051	+			265			Peptidase M12B.		O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	c.793A>T	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	A	12.44	1.938438	0.34189	.	.	ENSG00000139985	ENST00000267499	T	0.68025	-0.3	4.1	2.97	0.34412	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.46758	D	0.000275	D	0.82728	0.5100	M	0.92507	3.315	0.09310	N	0.999999	D	0.76494	0.999	D	0.77557	0.99	T	0.72469	-0.4284	10	0.87932	D	0	.	8.5619	0.33516	0.9052:0.0:0.0948:0.0	.	265	Q9UKJ8	ADA21_HUMAN	Y	265	ENSP00000267499:N265Y	ENSP00000267499:N265Y	N	+	1	0	ADAM21	69994762	0.970000	0.33590	0.967000	0.41034	0.715000	0.41141	5.263000	0.65507	1.839000	0.53478	0.455000	0.32223	AAT		0.368	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			76	83	0	0	0	1	0	76	83				
CACNA1E	777	broad.mit.edu	37	1	181750568	181750568	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:181750568G>A	ENST00000367573.2	+	39	5273	c.5273G>A	c.(5272-5274)cGc>cAc	p.R1758H	CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1709H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1739H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1758H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1365H|CACNA1E_ENST00000358338.5_Intron|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R1739H	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1758	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGCAGTGGCCGCATCCATTAC	0.557																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(5215-5217)cGc>cAc		calcium channel, voltage-dependent, R type, alpha 1E subunit							30.0	29.0	29.0					1																	181750568		2028	4191	6219	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181750568G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5273G>A	1.37:g.181750568G>A	ENSP00000356545:p.Arg1758His		Somatic				CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1758H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1709H|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1758H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1739H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1365H|CACNA1E_ENST00000358338.5_Intron	p.R1739H	NM_001205294.1	NP_001192223.1	WXS	Illumina GAIIx	Phase_I	Q15878	CAC1E_HUMAN			38	5381	+			1758			EF-hand.		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.5216G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	33	5.267014	0.95399	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D	0.96830	-4.04;-4.04;-4.14;-4.12;-4.13;-4.14	5.69	5.69	0.88448	.	0.046667	0.85682	D	0.000000	D	0.98406	0.9470	M	0.87328	2.875	0.80722	D	1	D;D	0.89917	0.977;1.0	P;D	0.83275	0.572;0.996	D	0.99136	1.0854	10	0.87932	D	0	.	19.4226	0.94727	0.0:0.0:1.0:0.0	.	1739;1758	Q15878-2;Q15878-3	.;.	H	1758;1739;1709;1365;1739;1758	ENSP00000356542:R1758H;ENSP00000434814:R1739H;ENSP00000350183:R1709H;ENSP00000356539:R1365H;ENSP00000353222:R1739H;ENSP00000356545:R1758H	ENSP00000350183:R1709H	R	+	2	0	CACNA1E	180017191	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.703000	0.98714	2.684000	0.91462	0.650000	0.86243	CGC		0.557	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		3	34	0	0	0	1	0	3	34				
SP4	6671	broad.mit.edu	37	7	21469656	21469656	+	Silent	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr7:21469656T>C	ENST00000222584.3	+	3	1091	c.873T>C	c.(871-873)gaT>gaC	p.D291D		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	291					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						CTACTGCTGATAGTGGGACTT	0.522																																						ENST00000222584.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(871-873)gaT>gaC		Sp4 transcription factor							121.0	98.0	106.0					7																	21469656		2203	4300	6503	SO:0001819	synonymous_variant	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21469656T>C		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.873T>C	7.37:g.21469656T>C			Somatic					p.D291D	NM_003112.3	NP_003103.2	WXS	Illumina GAIIx	Phase_I	Q02446	SP4_HUMAN			3	1091	+			291					O60402|Q32M52	Silent	SNP	ENST00000222584.3	37	c.873T>C	CCDS5373.1																																																																																				0.522	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		3	86	0	0	0	1	0	3	86				
PTGDS	5730	broad.mit.edu	37	9	139873535	139873535	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr9:139873535G>A	ENST00000371625.3	+	2	279	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	PTGDS_ENST00000224167.2_Missense_Mutation_p.V69M|RP11-229P13.19_ENST00000413913.2_RNA|PTGDS_ENST00000460340.1_3'UTR	NM_000954.5	NP_000945.3	P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	69					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|rough endoplasmic reticulum (GO:0005791)	fatty acid binding (GO:0005504)|prostaglandin-D synthase activity (GO:0004667)|retinoid binding (GO:0005501)|transporter activity (GO:0005215)	p.V69M(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CAAGTCTGTGGTGGCCCCTGC	0.672																																						ENST00000224167.2																			1	Substitution - Missense(1)	p.V69M(1)	kidney(1)	endometrium(2)|kidney(1)|lung(3)|ovary(1)	7						c.(205-207)Gtg>Atg		prostaglandin D2 synthase 21kDa (brain)							69.0	69.0	69.0					9																	139873535		2203	4299	6502	SO:0001583	missense	5730				prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity	g.chr9:139873535G>A	AA621632	CCDS7019.1	9q34.2-q34.3	2011-11-15	2002-08-29		ENSG00000107317	ENSG00000107317	5.3.99.2	"""Lipocalins"""	9592	protein-coding gene	gene with protein product	"""lipocalin-type prostaglandin D synthase"""	176803	"""prostaglandin D2 synthase (21kD, brain)"""			1902577	Standard	NM_000954		Approved	PGDS, L-PGDS	uc004cke.3	P41222	OTTHUMG00000020957	ENST00000371625.3:c.205G>A	9.37:g.139873535G>A	ENSP00000360687:p.Val69Met		Somatic				PTGDS_ENST00000371625.3_Missense_Mutation_p.V69M|PTGDS_ENST00000460340.1_3'UTR	p.V69M			WXS	Illumina GAIIx	Phase_I	P41222	PTGDS_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	2	280	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	69					B2R727|Q5SQ10|Q7M4P3|Q9UC22|Q9UCC9|Q9UCD9	Missense_Mutation	SNP	ENST00000371625.3	37	c.205G>A	CCDS7019.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	22.1|22.1	4.246538|4.246538	0.80024|0.80024	.|.	.|.	ENSG00000107317|ENSG00000107317	ENST00000446677|ENST00000224167;ENST00000457950;ENST00000371625;ENST00000371623	.|T;T;T;T	.|0.09073	.|3.02;3.02;3.02;3.02	4.28|4.28	1.18|1.18	0.20946|0.20946	.|Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	.|0.280362	.|0.24779	.|N	.|0.035664	T|T	0.18676|0.18676	0.0448|0.0448	M|M	0.70903|0.70903	2.155|2.155	0.09310|0.09310	N|N	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.79784	.|0.993	T|T	0.05162|0.05162	-1.0902|-1.0902	5|10	.|0.42905	.|T	.|0.14	-11.7164|-11.7164	2.3977|2.3977	0.04394|0.04394	0.2006:0.1563:0.5008:0.1422|0.2006:0.1563:0.5008:0.1422	.|.	.|69	.|P41222	.|PTGDS_HUMAN	D|M	91|69	.|ENSP00000224167:V69M;ENSP00000392633:V69M;ENSP00000360687:V69M;ENSP00000360685:V69M	.|ENSP00000224167:V69M	G|V	+|+	2|1	0|0	PTGDS|PTGDS	138993356|138993356	0.001000|0.001000	0.12720|0.12720	0.075000|0.075000	0.20258|0.20258	0.771000|0.771000	0.43674|0.43674	-0.003000|-0.003000	0.12901|0.12901	0.783000|0.783000	0.33636|0.33636	0.436000|0.436000	0.28706|0.28706	GGT|GTG		0.672	PTGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055188.1	NM_000954		11	13	0	0	0	1	0	11	13				
PRPS2	5634	broad.mit.edu	37	X	12837682	12837682	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chrX:12837682G>A	ENST00000380668.5	+	5	715	c.587G>A	c.(586-588)aGg>aAg	p.R196K	PRPS2_ENST00000398491.2_Missense_Mutation_p.R199K	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	196					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						CACAAAGAGAGGAAGAAGGCG	0.502																																						ENST00000380668.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						c.(586-588)aGg>aAg		phosphoribosyl pyrophosphate synthetase 2							247.0	216.0	227.0					X																	12837682		2203	4300	6503	SO:0001583	missense	5634				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:12837682G>A	Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"""PRS II"", ""ribose-phosphate diphosphokinase 2"""	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.587G>A	X.37:g.12837682G>A	ENSP00000370043:p.Arg196Lys		Somatic				PRPS2_ENST00000398491.2_Missense_Mutation_p.R199K	p.R196K	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	WXS	Illumina GAIIx	Phase_I	P11908	PRPS2_HUMAN			5	715	+			196					Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Missense_Mutation	SNP	ENST00000380668.5	37	c.587G>A	CCDS14150.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.638317	0.67130	.	.	ENSG00000101911	ENST00000380668;ENST00000398491	D;D	0.92495	-3.05;-3.05	4.86	3.96	0.45880	Phosphoribosyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.93575	0.7949	M	0.92459	3.31	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.005	D	0.91378	0.5125	10	0.72032	D	0.01	-27.4528	14.2994	0.66336	0.0:0.1461:0.8539:0.0	.	196;199	P11908;P11908-2	PRPS2_HUMAN;.	K	196;199	ENSP00000370043:R196K;ENSP00000381504:R199K	ENSP00000370043:R196K	R	+	2	0	PRPS2	12747603	1.000000	0.71417	0.995000	0.50966	0.933000	0.57130	9.273000	0.95719	0.902000	0.36520	0.513000	0.50165	AGG		0.502	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055772.2	NM_002765		7	734	0	0	0	1	0	7	734				
KIAA2026	158358	broad.mit.edu	37	9	5921685	5921685	+	Silent	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr9:5921685A>T	ENST00000399933.3	-	8	4310	c.4311T>A	c.(4309-4311)acT>acA	p.T1437T	KIAA2026_ENST00000381461.2_Silent_p.T1407T	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1437										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		GTTGCTGTTTAGTTGGAGTAT	0.368																																						ENST00000399933.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(4309-4311)acT>acA		KIAA2026							189.0	175.0	179.0					9																	5921685		1910	4121	6031	SO:0001819	synonymous_variant	158358							g.chr9:5921685A>T	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.4311T>A	9.37:g.5921685A>T			Somatic				KIAA2026_ENST00000381461.2_Silent_p.T1407T	p.T1437T	NM_001017969.2	NP_001017969.2	WXS	Illumina GAIIx	Phase_I	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	8	4310	-		Acute lymphoblastic leukemia(23;0.158)	1437					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	ENST00000399933.3	37	c.4311T>A																																																																																					0.368	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		4	110	0	0	0	1	0	4	110				
ZNF714	148206	broad.mit.edu	37	19	21300402	21300402	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr19:21300402C>A	ENST00000596143.1	+	5	1257	c.932C>A	c.(931-933)tCt>tAt	p.S311Y	ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S416Y(1)|p.S311Y(1)		endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						GGAGAGAAATCTTACAAATGT	0.333																																						ENST00000596143.1																			2	Substitution - Missense(2)	p.S416Y(1)|p.S311Y(1)	kidney(2)	endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						c.(931-933)tCt>tAt		zinc finger protein 714							24.0	27.0	26.0					19																	21300402		2167	4284	6451	SO:0001583	missense	148206				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21300402C>A	AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.932C>A	19.37:g.21300402C>A	ENSP00000472368:p.Ser311Tyr		Somatic				ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR	p.S311Y	NM_182515.3	NP_872321.2	WXS	Illumina GAIIx	Phase_I	Q96N38	ZN714_HUMAN			5	1257	+			312					Q49AI1|Q86W65|Q8ND40	Missense_Mutation	SNP	ENST00000596143.1	37	c.932C>A	CCDS54239.1	.	.	.	.	.	.	.	.	.	.	.	4.413	0.076323	0.08485	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	0.955	0.955	0.19602	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40423	0.1116	L	0.51914	1.62	0.26359	N	0.977078	P;P;P	0.40360	0.534;0.714;0.589	B;B;B	0.43386	0.196;0.418;0.405	T	0.32877	-0.9890	8	0.87932	D	0	.	8.8708	0.35314	0.0:1.0:0.0:0.0	.	312;311;312	Q96N38-2;A6NEM4;Q96N38	.;.;ZN714_HUMAN	Y	311	.	ENSP00000291770:S311Y	S	+	2	0	ZNF714	21092242	0.001000	0.12720	0.060000	0.19600	0.054000	0.15201	0.841000	0.27613	0.446000	0.26666	0.449000	0.29647	TCT		0.333	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515		9	20	1	0	1.12685e-05	1	1.20299e-05	9	20				
TMCO4	255104	broad.mit.edu	37	1	20009748	20009748	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:20009748C>G	ENST00000294543.6	-	16	1931	c.1690G>C	c.(1690-1692)Ggt>Cgt	p.G564R	TMCO4_ENST00000375127.1_Intron|TMCO4_ENST00000375122.2_Missense_Mutation_p.G524R|TMCO4_ENST00000489814.1_5'UTR	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	564						integral component of membrane (GO:0016021)		p.G564R(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GATATGGGACCCTGGGTTTGC	0.667																																						ENST00000294543.6																			1	Substitution - Missense(1)	p.G564R(1)	kidney(1)	biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1690-1692)Ggt>Cgt		transmembrane and coiled-coil domains 4							63.0	68.0	66.0					1																	20009748		2203	4300	6503	SO:0001583	missense	255104					integral to membrane		g.chr1:20009748C>G		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1690G>C	1.37:g.20009748C>G	ENSP00000294543:p.Gly564Arg		Somatic				TMCO4_ENST00000375122.2_Missense_Mutation_p.G524R|TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Intron	p.G564R	NM_181719.4	NP_859070.3	WXS	Illumina GAIIx	Phase_I	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	16	1931	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	564					Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	ENST00000294543.6	37	c.1690G>C	CCDS198.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920717	0.52653	.	.	ENSG00000162542	ENST00000294543;ENST00000375122	T;T	0.32753	1.47;1.44	4.61	4.61	0.57282	.	0.600243	0.14714	N	0.302780	T	0.23532	0.0569	L	0.29908	0.895	0.36908	D	0.890732	B;P	0.40107	0.435;0.703	B;B	0.37508	0.128;0.252	T	0.14448	-1.0472	10	0.22109	T	0.4	-12.8024	14.5439	0.68015	0.0:1.0:0.0:0.0	.	564;524	Q5TGY1;Q5TGY1-2	TMCO4_HUMAN;.	R	564;524	ENSP00000294543:G564R;ENSP00000364264:G524R	ENSP00000294543:G564R	G	-	1	0	TMCO4	19882335	0.000000	0.05858	0.539000	0.28077	0.235000	0.25334	-0.105000	0.10907	2.264000	0.75181	0.655000	0.94253	GGT		0.667	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		20	34	0	0	0	1	0	20	34				
KCNB1	3745	broad.mit.edu	37	20	47990940	47990940	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr20:47990940T>A	ENST00000371741.4	-	2	1323	c.1157A>T	c.(1156-1158)aAg>aTg	p.K386M		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	386					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)	p.K386M(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	CAGGAGAGTCTTGGGGTAGAT	0.512																																						ENST00000371741.4																			1	Substitution - Missense(1)	p.K386M(1)	kidney(1)	central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(1156-1158)aAg>aTg		potassium voltage-gated channel, Shab-related subfamily, member 1							55.0	59.0	57.0					20																	47990940		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47990940T>A	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.1157A>T	20.37:g.47990940T>A	ENSP00000360806:p.Lys386Met		Somatic					p.K386M	NM_004975.2	NP_004966.1	WXS	Illumina GAIIx	Phase_I	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	1323	-			386					Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.1157A>T	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	T	17.93	3.509619	0.64522	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.98567	-5.0	5.91	5.91	0.95273	Ion transport (1);	0.190048	0.53938	D	0.000051	D	0.98523	0.9507	L	0.60012	1.86	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	D	0.99804	1.1037	10	0.62326	D	0.03	.	16.0247	0.80536	0.0:0.0:0.0:1.0	.	386	Q14721	KCNB1_HUMAN	M	386;341	ENSP00000360806:K386M	ENSP00000360806:K386M	K	-	2	0	KCNB1	47424347	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.139000	0.71728	2.266000	0.75297	0.533000	0.62120	AAG		0.512	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		5	107	0	0	0	1	0	5	107				
TAS2R3	50831	broad.mit.edu	37	7	141464695	141464695	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr7:141464695A>T	ENST00000247879.2	+	1	799	c.737A>T	c.(736-738)tAc>tTc	p.Y246F	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	246					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ttcttactttactttcttgct	0.418																																						ENST00000247879.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14						c.(736-738)tAc>tTc		taste receptor, type 2, member 3							93.0	84.0	87.0					7																	141464695		2203	4300	6503	SO:0001583	missense	50831				sensory perception of taste		taste receptor activity	g.chr7:141464695A>T	AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.737A>T	7.37:g.141464695A>T	ENSP00000247879:p.Tyr246Phe		Somatic				SSBP1_ENST00000465582.1_Intron	p.Y246F	NM_016943.2	NP_058639.1	WXS	Illumina GAIIx	Phase_I	Q9NYW6	TA2R3_HUMAN			1	799	+	Melanoma(164;0.0171)		246					A4D1U2|Q645W2|Q75MV6	Missense_Mutation	SNP	ENST00000247879.2	37	c.737A>T	CCDS5867.1	.	.	.	.	.	.	.	.	.	.	A	15.62	2.886789	0.51908	.	.	ENSG00000127362	ENST00000247879	T	0.01172	5.23	5.71	5.71	0.89125	.	0.146929	0.44097	D	0.000497	T	0.04588	0.0125	L	0.59967	1.855	0.24084	N	0.995936	D	0.89917	1.0	D	0.87578	0.998	T	0.26326	-1.0106	10	0.87932	D	0	.	8.4777	0.33023	0.914:0.0:0.086:0.0	.	246	Q9NYW6	TA2R3_HUMAN	F	246	ENSP00000247879:Y246F	ENSP00000247879:Y246F	Y	+	2	0	TAS2R3	141111164	0.776000	0.28616	0.946000	0.38457	0.325000	0.28411	3.110000	0.50352	2.180000	0.69256	0.455000	0.32223	TAC		0.418	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1			4	143	0	0	0	1	0	4	143				
RSPO4	343637	broad.mit.edu	37	20	948634	948634	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr20:948634C>G	ENST00000217260.4	-	2	323	c.227G>C	c.(226-228)gGg>gCg	p.G76A	RSPO4_ENST00000400634.2_Missense_Mutation_p.G76A	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	76					Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	heparin binding (GO:0008201)	p.G76A(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GCCGAAGTACCCAGGGGGACA	0.602																																						ENST00000217260.4																			1	Substitution - Missense(1)	p.G76A(1)	kidney(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(226-228)gGg>gCg		R-spondin 4							84.0	87.0	86.0					20																	948634		2023	4166	6189	SO:0001583	missense	343637				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr20:948634C>G	AK122609	CCDS42845.1, CCDS42846.1	20p13	2014-01-30	2011-06-29	2005-08-08	ENSG00000101282	ENSG00000101282		"""Endogenous ligands"""	16175	protein-coding gene	gene with protein product		610573	"""chromosome 20 open reading frame 182"", ""R-spondin family, member 4"""	C20orf182		15469841	Standard	NM_001029871		Approved	dJ824F16.3	uc002wej.3	Q2I0M5	OTTHUMG00000031651	ENST00000217260.4:c.227G>C	20.37:g.948634C>G	ENSP00000217260:p.Gly76Ala		Somatic				RSPO4_ENST00000400634.2_Missense_Mutation_p.G76A	p.G76A	NM_001029871.3	NP_001025042.2	WXS	Illumina GAIIx	Phase_I	Q2I0M5	RSPO4_HUMAN			2	323	-			76					A2A2I6|Q9UGB2	Missense_Mutation	SNP	ENST00000217260.4	37	c.227G>C	CCDS42846.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834762	0.91036	.	.	ENSG00000101282	ENST00000217260;ENST00000400634	D;D	0.91577	-2.87;-2.87	5.28	5.28	0.74379	Growth factor, receptor (1);	0.177470	0.36409	N	0.002604	D	0.96225	0.8769	M	0.90595	3.13	0.53688	D	0.999971	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96883	0.9647	10	0.72032	D	0.01	-3.1168	17.4895	0.87699	0.0:1.0:0.0:0.0	.	76;76	Q2I0M5-2;Q2I0M5	.;RSPO4_HUMAN	A	76	ENSP00000217260:G76A;ENSP00000383475:G76A	ENSP00000217260:G76A	G	-	2	0	RSPO4	896634	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.238000	0.78173	2.473000	0.83533	0.563000	0.77884	GGG		0.602	RSPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077492.3	XM_297816		169	333	0	0	0	1	0	169	333				
SLC33A1	9197	broad.mit.edu	37	3	155546088	155546088	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr3:155546088C>A	ENST00000392845.3	-	6	1941	c.1561G>T	c.(1561-1563)Gga>Tga	p.G521*	SLC33A1_ENST00000359479.3_Nonsense_Mutation_p.G521*			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	521					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)	p.G521*(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAACCAAATCCAATGAAAACA	0.338																																						ENST00000392845.2																			1	Substitution - Nonsense(1)	p.G521*(1)	kidney(1)	endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22						c.(1561-1563)Gga>Tga		solute carrier family 33 (acetyl-CoA transporter), member 1							80.0	80.0	80.0					3																	155546088		2203	4297	6500	SO:0001587	stop_gained	9197				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	g.chr3:155546088C>A	D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"""Solute carriers"""	95	protein-coding gene	gene with protein product		603690	"""acetyl-Coenzyme A transporter"", ""spastic paraplegia 42 (autosomal dominant)"""	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.1561G>T	3.37:g.155546088C>A	ENSP00000376587:p.Gly521*		Somatic				SLC33A1_ENST00000359479.3_Nonsense_Mutation_p.G521*	p.G521*	NM_004733.3	NP_004724.1	WXS	Illumina GAIIx	Phase_I	O00400	ACATN_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		6	1941	-			521					B2R5Q2|D3DNK4	Nonsense_Mutation	SNP	ENST00000392845.3	37	c.1561G>T	CCDS3173.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.164472|8.164472	0.98686|0.98686	.|.	.|.	ENSG00000169359|ENSG00000169359	ENST00000392845;ENST00000359479;ENST00000496772|ENST00000475842	.|.	.|.	.|.	5.78|5.78	4.89|4.89	0.63831|0.63831	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.66297	.|0.2775	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69273	.|-0.5188	.|3	0.87932|.	D|.	0|.	-13.5195|-13.5195	15.2806|15.2806	0.73781|0.73781	0.0:0.9316:0.0:0.0684|0.0:0.9316:0.0:0.0684	.|.	.|.	.|.	.|.	X|L	521;521;157|240	.|.	ENSP00000352456:G521X|.	G|W	-|-	1|2	0|0	SLC33A1|SLC33A1	157028782|157028782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	5.971000|5.971000	0.70440|0.70440	2.741000|2.741000	0.93983|0.93983	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.338	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3	NM_004733		19	33	1	0	2.94398e-08	1	3.21532e-08	19	33				
OR2M7	391196	broad.mit.edu	37	1	248487519	248487519	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:248487519T>A	ENST00000317965.2	-	1	380	c.352A>T	c.(352-354)Atg>Ttg	p.M118L		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCATAAGACATAACAGCCAAC	0.448																																						ENST00000317965.2																			0				breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42						c.(352-354)Atg>Ttg		olfactory receptor, family 2, subfamily M, member 7							225.0	227.0	226.0					1																	248487519		2203	4300	6503	SO:0001583	missense	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487519T>A	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.352A>T	1.37:g.248487519T>A	ENSP00000324557:p.Met118Leu		Somatic					p.M118L	NM_001004691.1	NP_001004691.1	WXS	Illumina GAIIx	Phase_I	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	380	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		118					B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	c.352A>T	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	T	13.09	2.134304	0.37630	.	.	ENSG00000177186	ENST00000317965	T	0.00892	5.57	1.54	1.54	0.23209	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38897	U	0.001530	T	0.03305	0.0096	H	0.97732	4.065	0.28014	N	0.934801	B	0.17038	0.02	B	0.17979	0.02	T	0.08827	-1.0703	10	0.87932	D	0	.	8.6678	0.34132	0.0:0.0:0.0:1.0	.	118	Q8NG81	OR2M7_HUMAN	L	118	ENSP00000324557:M118L	ENSP00000324557:M118L	M	-	1	0	OR2M7	246554142	1.000000	0.71417	0.079000	0.20413	0.099000	0.18886	6.085000	0.71343	0.703000	0.31848	0.155000	0.16302	ATG		0.448	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		7	648	0	0	0	1	0	7	648				
CA10	56934	broad.mit.edu	37	17	49726541	49726541	+	Splice_Site	SNP	A	A	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr17:49726541A>G	ENST00000285273.4	-	7	1746		c.e7+1		CA10_ENST00000442502.2_Splice_Site|CA10_ENST00000451037.2_Splice_Site|CA10_ENST00000571918.1_Splice_Site|CA10_ENST00000570565.1_Splice_Site|CA10_ENST00000340813.6_Splice_Site	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X						brain development (GO:0007420)			p.?(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	AACCAAACTTACTTTTATATG	0.383																																						ENST00000451037.2																			1	Unknown(1)	p.?(1)	kidney(1)	cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41						c.e6+1		carbonic anhydrase X							121.0	126.0	124.0					17																	49726541		2203	4300	6503	SO:0001630	splice_region_variant	56934				brain development			g.chr17:49726541A>G	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.634+1T>C	17.37:g.49726541A>G			Somatic				CA10_ENST00000285273.4_Splice_Site|CA10_ENST00000442502.2_Splice_Site|CA10_ENST00000340813.6_Splice_Site|CA10_ENST00000570565.1_Splice_Site|CA10_ENST00000571918.1_Splice_Site		NM_020178.4	NP_064563.1	WXS	Illumina GAIIx	Phase_I	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		6	1575	-								B2R7J0|B4DGL6	Splice_Site	SNP	ENST00000285273.4	37		CCDS32684.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.358044	0.82243	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5469	0.68038	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CA10	47081540	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.546000	0.90661	2.018000	0.59344	0.482000	0.46254	.		0.383	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178	Intron	17	12	0	0	0	1	0	17	12				
UHRF1BP1	54887	broad.mit.edu	37	6	34789455	34789455	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr6:34789455A>T	ENST00000192788.5	+	2	241	c.70A>T	c.(70-72)Aaa>Taa	p.K24*	Y_RNA_ENST00000383990.1_RNA|UHRF1BP1_ENST00000452449.2_Nonsense_Mutation_p.K24*	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	24							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.K24*(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TTCCCCAGACAAAATCAACCT	0.453																																						ENST00000192788.5																			1	Substitution - Nonsense(1)	p.K24*(1)	kidney(1)	breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(70-72)Aaa>Taa		UHRF1 binding protein 1							46.0	47.0	47.0					6																	34789455		1861	4108	5969	SO:0001587	stop_gained	54887							g.chr6:34789455A>T	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.70A>T	6.37:g.34789455A>T	ENSP00000192788:p.Lys24*		Somatic				UHRF1BP1_ENST00000452449.2_Nonsense_Mutation_p.K24*	p.K24*	NM_017754.3	NP_060224.3	WXS	Illumina GAIIx	Phase_I	Q6BDS2	URFB1_HUMAN			2	241	+			24					Q9NXE0	Nonsense_Mutation	SNP	ENST00000192788.5	37	c.70A>T	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	A	37	6.283819	0.97440	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4368	16.1267	0.81400	1.0:0.0:0.0:0.0	.	.	.	.	X	24	.	ENSP00000192788:K24X	K	+	1	0	UHRF1BP1	34897433	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.299000	0.78831	2.205000	0.71048	0.455000	0.32223	AAA		0.453	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		34	61	0	0	0	1	0	34	61				
BCAR1	9564	broad.mit.edu	37	16	75276901	75276901	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr16:75276901C>A	ENST00000162330.5	-	2	226	c.100G>T	c.(100-102)Gag>Tag	p.E34*	BCAR1_ENST00000542031.2_Nonsense_Mutation_p.E32*|BCAR1_ENST00000546196.1_Nonsense_Mutation_p.E5*|BCAR1_ENST00000418647.3_Nonsense_Mutation_p.E80*|BCAR1_ENST00000420641.3_Nonsense_Mutation_p.E52*|BCAR1_ENST00000538440.2_Nonsense_Mutation_p.E34*|BCAR1_ENST00000535626.2_Nonsense_Mutation_p.E34*|BCAR1_ENST00000393422.2_Nonsense_Mutation_p.E52*|BCAR1_ENST00000393420.6_Nonsense_Mutation_p.E34*	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	34	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.E34*(4)|p.E80*(2)		breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTGTCCTGCTCCAGCACCGTC	0.632																																						ENST00000546196.1																			6	Substitution - Nonsense(6)	p.E34*(4)|p.E80*(2)	kidney(6)	breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35						c.(13-15)Gag>Tag		breast cancer anti-estrogen resistance 1							40.0	40.0	40.0					16																	75276901		2197	4300	6497	SO:0001587	stop_gained	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75276901C>A	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.100G>T	16.37:g.75276901C>A	ENSP00000162330:p.Glu34*		Somatic				BCAR1_ENST00000162330.5_Nonsense_Mutation_p.E34*|BCAR1_ENST00000393420.6_Nonsense_Mutation_p.E34*|BCAR1_ENST00000542031.2_Nonsense_Mutation_p.E32*|BCAR1_ENST00000393422.2_Nonsense_Mutation_p.E52*|BCAR1_ENST00000538440.2_Nonsense_Mutation_p.E34*|BCAR1_ENST00000418647.3_Nonsense_Mutation_p.E80*|BCAR1_ENST00000535626.2_Nonsense_Mutation_p.E34*|BCAR1_ENST00000420641.3_Nonsense_Mutation_p.E52*	p.E5*			WXS	Illumina GAIIx	Phase_I	P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	2	1665	-			34			SH3.		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Nonsense_Mutation	SNP	ENST00000162330.5	37	c.13G>T	CCDS10915.1	.	.	.	.	.	.	.	.	.	.	C	37	6.206768	0.97376	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-44.6177	17.4106	0.87484	0.0:1.0:0.0:0.0	.	.	.	.	X	34;52;52;34;80;34;34;32;5	.	ENSP00000162330:E34X	E	-	1	0	BCAR1	73834402	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.701000	0.68325	2.537000	0.85549	0.561000	0.74099	GAG		0.632	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		15	30	1	0	4.14922e-12	1	4.61673e-12	15	30				
SYTL4	94121	broad.mit.edu	37	X	99941139	99941139	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chrX:99941139G>A	ENST00000372989.1	-	15	1628	c.1297C>T	c.(1297-1299)Cca>Tca	p.P433S	SYTL4_ENST00000276141.6_Missense_Mutation_p.P433S|SYTL4_ENST00000454200.2_Missense_Mutation_p.P435S|SYTL4_ENST00000263033.5_Missense_Mutation_p.P433S|SYTL4_ENST00000455616.1_Missense_Mutation_p.P433S|SYTL4_ENST00000372981.1_3'UTR	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	433	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.P433S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AGAGATTCTGGGATCTCATAC	0.453																																						ENST00000455616.1																			1	Substitution - Missense(1)	p.P433S(1)	kidney(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27						c.(1297-1299)Cca>Tca		synaptotagmin-like 4	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						47.0	41.0	43.0					X																	99941139		2202	4300	6502	SO:0001583	missense	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	g.chrX:99941139G>A		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.1297C>T	X.37:g.99941139G>A	ENSP00000362080:p.Pro433Ser		Somatic				SYTL4_ENST00000372989.1_Missense_Mutation_p.P433S|SYTL4_ENST00000263033.5_Missense_Mutation_p.P433S|SYTL4_ENST00000276141.6_Missense_Mutation_p.P433S|SYTL4_ENST00000372981.1_3'UTR|SYTL4_ENST00000454200.2_Missense_Mutation_p.P435S	p.P433S			WXS	Illumina GAIIx	Phase_I	Q96C24	SYTL4_HUMAN			14	1643	-			433			C2 1.		Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	c.1297C>T	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	G	2.808	-0.247608	0.05867	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033	T;T;T;T;T	0.08193	3.12;3.12;3.12;3.12;3.12	5.88	2.12	0.27331	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.688831	0.15876	N	0.240296	T	0.03136	0.0092	N	0.04275	-0.24	0.32121	N	0.588037	B	0.02656	0.0	B	0.01281	0.0	T	0.38672	-0.9650	9	.	.	.	0.214	4.8068	0.13325	0.3245:0.0:0.494:0.1816	.	433	Q96C24	SYTL4_HUMAN	S	433;433;435;433;433	ENSP00000362080:P433S;ENSP00000390252:P433S;ENSP00000403556:P435S;ENSP00000276141:P433S;ENSP00000263033:P433S	.	P	-	1	0	SYTL4	99827795	0.998000	0.40836	0.995000	0.50966	0.987000	0.75469	1.115000	0.31209	0.227000	0.20999	0.600000	0.82982	CCA		0.453	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		8	75	0	0	0	1	0	8	75				
NREP	9315	broad.mit.edu	37	5	111071196	111071196	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr5:111071196G>T	ENST00000379671.3	-	4	276	c.12C>A	c.(10-12)taC>taA	p.Y4*	NREP_ENST00000419114.2_Nonsense_Mutation_p.Y4*|NREP_ENST00000509025.1_Nonsense_Mutation_p.Y4*|NREP_ENST00000450761.2_Nonsense_Mutation_p.Y4*|NREP_ENST00000508870.1_Nonsense_Mutation_p.Y4*|NREP_ENST00000453526.2_Nonsense_Mutation_p.Y4*|NREP_ENST00000515855.1_Nonsense_Mutation_p.Y4*|NREP_ENST00000507742.1_5'UTR|NREP_ENST00000509427.1_Nonsense_Mutation_p.Y4*|NREP_ENST00000257435.7_Nonsense_Mutation_p.Y4*|NREP_ENST00000509979.1_Nonsense_Mutation_p.Y4*|NREP_ENST00000447165.2_Nonsense_Mutation_p.Y4*|NREP_ENST00000455559.2_Nonsense_Mutation_p.Y4*|NREP_ENST00000446294.2_Nonsense_Mutation_p.Y4*|STARD4-AS1_ENST00000500779.2_RNA|NREP_ENST00000395634.3_Nonsense_Mutation_p.Y48*	NM_001142478.1	NP_001135950.1	Q16612	NREP_HUMAN	neuronal regeneration related protein	4					axon regeneration (GO:0031103)|regulation of neuron differentiation (GO:0045664)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Y4*(1)|p.Y48*(1)									AGAGTTCTGGGTAATAAACCT	0.403																																						ENST00000379671.3																			2	Substitution - Nonsense(2)	p.Y4*(1)|p.Y48*(1)	kidney(2)								c.(10-12)taC>taA		neuronal regeneration related protein							88.0	89.0	89.0					5																	111071196		2202	4300	6502	SO:0001587	stop_gained	9315					cytoplasm		g.chr5:111071196G>T	AF119859	CCDS4105.1, CCDS47255.1	5q22.1	2012-12-07	2012-12-07	2012-01-23	ENSG00000134986	ENSG00000134986			16834	protein-coding gene	gene with protein product	"""neuronal protein 3.1"""	607332	"""chromosome 5 open reading frame 13"", ""neuronal regeneration related protein homolog (rat)"""	C5orf13		8261136, 10981724, 15485502	Standard	NM_004772		Approved	P311, D4S114, PRO1873, PTZ17, SEZ17	uc011cvr.2	Q16612	OTTHUMG00000128795	ENST00000379671.3:c.12C>A	5.37:g.111071196G>T	ENSP00000368993:p.Tyr4*		Somatic				NREP_ENST00000507742.1_5'UTR|NREP_ENST00000508870.1_Nonsense_Mutation_p.Y4*|NREP_ENST00000453526.2_Nonsense_Mutation_p.Y4*|NREP_ENST00000509427.1_Nonsense_Mutation_p.Y4*|NREP_ENST00000509025.1_Nonsense_Mutation_p.Y4*|NREP_ENST00000450761.2_Nonsense_Mutation_p.Y4*|NREP_ENST00000509979.1_Nonsense_Mutation_p.Y4*|STARD4-AS1_ENST00000500779.2_RNA|NREP_ENST00000419114.2_Nonsense_Mutation_p.Y4*|NREP_ENST00000515855.1_Nonsense_Mutation_p.Y4*|NREP_ENST00000455559.2_Nonsense_Mutation_p.Y4*|NREP_ENST00000395634.3_Nonsense_Mutation_p.Y48*|NREP_ENST00000446294.2_Nonsense_Mutation_p.Y4*|NREP_ENST00000447165.2_Nonsense_Mutation_p.Y4*|NREP_ENST00000257435.7_Nonsense_Mutation_p.Y4*	p.Y4*	NM_001142478.1	NP_001135950.1	WXS	Illumina GAIIx	Phase_I	Q16612	NP311_HUMAN			4	276	-			4					B2RDN8|B7Z5D2|D3DSZ8	Nonsense_Mutation	SNP	ENST00000379671.3	37	c.12C>A	CCDS4105.1	.	.	.	.	.	.	.	.	.	.	G	34	5.332428	0.95733	.	.	ENSG00000134986	ENST00000509025;ENST00000379671;ENST00000257435;ENST00000447165;ENST00000446294;ENST00000395634;ENST00000515855;ENST00000509979;ENST00000450761;ENST00000419114;ENST00000509427;ENST00000453526;ENST00000455559;ENST00000508870;ENST00000513100;ENST00000508161;ENST00000507032	.	.	.	5.55	4.62	0.57501	.	0.398139	0.21371	N	0.075628	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.824	8.9943	0.36043	0.0:0.171:0.6742:0.1548	.	.	.	.	X	4;4;4;4;4;48;4;4;4;4;4;4;4;4;4;4;4	.	ENSP00000257435:Y4X	Y	-	3	2	C5orf13	111099095	1.000000	0.71417	0.997000	0.53966	0.618000	0.37518	0.900000	0.28431	2.773000	0.95371	0.655000	0.94253	TAC		0.403	NREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250722.1	NM_004772		21	147	1	0	1.37657e-19	1	1.55355e-19	21	147				
BCAR1	9564	broad.mit.edu	37	16	75276902	75276902	+	Silent	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr16:75276902C>A	ENST00000162330.5	-	2	225	c.99G>T	c.(97-99)ctG>ctT	p.L33L	BCAR1_ENST00000542031.2_Silent_p.L31L|BCAR1_ENST00000546196.1_Silent_p.L4L|BCAR1_ENST00000418647.3_Silent_p.L79L|BCAR1_ENST00000420641.3_Silent_p.L51L|BCAR1_ENST00000538440.2_Silent_p.L33L|BCAR1_ENST00000535626.2_Silent_p.L33L|BCAR1_ENST00000393422.2_Silent_p.L51L|BCAR1_ENST00000393420.6_Silent_p.L33L	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	33	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.L33L(2)|p.E34*(2)|p.L79L(1)|p.E80*(1)		breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGTCCTGCTCCAGCACCGTCA	0.632																																						ENST00000546196.1																			6	Substitution - Nonsense(3)|Substitution - coding silent(3)	p.L33L(2)|p.E34*(2)|p.L79L(1)|p.E80*(1)	kidney(6)	breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35						c.(10-12)ctG>ctT		breast cancer anti-estrogen resistance 1							40.0	40.0	40.0					16																	75276902		2197	4300	6497	SO:0001819	synonymous_variant	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75276902C>A	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.99G>T	16.37:g.75276902C>A			Somatic				BCAR1_ENST00000162330.5_Silent_p.L33L|BCAR1_ENST00000393420.6_Silent_p.L33L|BCAR1_ENST00000542031.2_Silent_p.L31L|BCAR1_ENST00000393422.2_Silent_p.L51L|BCAR1_ENST00000538440.2_Silent_p.L33L|BCAR1_ENST00000418647.3_Silent_p.L79L|BCAR1_ENST00000535626.2_Silent_p.L33L|BCAR1_ENST00000420641.3_Silent_p.L51L	p.L4L			WXS	Illumina GAIIx	Phase_I	P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	2	1664	-			33	NHL -> SVP (in Ref. 4; BAB55230).		SH3.		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Silent	SNP	ENST00000162330.5	37	c.12G>T	CCDS10915.1																																																																																				0.632	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		16	27	1	0	2.35188e-11	1	2.60465e-11	16	27				
NCL	4691	broad.mit.edu	37	2	232323744	232323744	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:232323744A>T	ENST00000322723.4	-	7	1373	c.1133T>A	c.(1132-1134)cTa>cAa	p.L378Q	SNORD20_ENST00000384550.1_RNA|SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	378	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TGGTTTCTCTAGTTTAATTTC	0.378																																						ENST00000322723.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35						c.(1132-1134)cTa>cAa		nucleolin							195.0	159.0	171.0					2																	232323744		2203	4300	6503	SO:0001583	missense	4691				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	g.chr2:232323744A>T		CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1133T>A	2.37:g.232323744A>T	ENSP00000318195:p.Leu378Gln		Somatic					p.L378Q	NM_005381.2	NP_005372.2	WXS	Illumina GAIIx	Phase_I	P19338	NUCL_HUMAN		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)	7	1373	-		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)	378			RRM 1.		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	ENST00000322723.4	37	c.1133T>A	CCDS33397.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.374622	0.82573	.	.	ENSG00000115053	ENST00000322723;ENST00000392033	T	0.06687	3.27	5.29	5.29	0.74685	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.072439	0.64402	D	0.000019	T	0.41026	0.1141	H	0.95611	3.695	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	T	0.58070	-0.7701	10	0.87932	D	0	-5.3964	14.4396	0.67306	1.0:0.0:0.0:0.0	.	378	P19338	NUCL_HUMAN	Q	378;270	ENSP00000318195:L378Q	ENSP00000318195:L378Q	L	-	2	0	NCL	232031988	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.920000	0.87521	2.010000	0.58986	0.451000	0.29950	CTA		0.378	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		7	128	0	0	0	1	0	7	128				
OR52N2	390077	broad.mit.edu	37	11	5841740	5841740	+	Silent	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr11:5841740C>A	ENST00000317037.2	+	1	197	c.175C>A	c.(175-177)Cgg>Agg	p.R59R	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H53_F64del(1)|p.R59G(1)|p.R59R(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCCTGCACCGGCCCATGTA	0.522																																						ENST00000317037.2																			3	Substitution - Missense(1)|Substitution - coding silent(1)|Deletion - In frame(1)	p.H53_F64del(1)|p.R59G(1)|p.R59R(1)	ovary(1)|lung(1)|kidney(1)	autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32						c.(175-177)Cgg>Agg		olfactory receptor, family 52, subfamily N, member 2							138.0	119.0	125.0					11																	5841740		2201	4296	6497	SO:0001819	synonymous_variant	390077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5841740C>A	AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988		"""GPCR / Class A : Olfactory receptors"""	15228	protein-coding gene	gene with protein product							Standard	NM_001005174		Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.175C>A	11.37:g.5841740C>A			Somatic				TRIM5_ENST00000380027.1_Intron	p.R59R	NM_001005174.1	NP_001005174.1	WXS	Illumina GAIIx	Phase_I	Q8NGI0	O52N2_HUMAN		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	197	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	59					Q6IFF9	Silent	SNP	ENST00000317037.2	37	c.175C>A	CCDS31399.1																																																																																				0.522	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401143.1	NM_001005174		136	225	1	0	1.08273e-52	1	1.25788e-52	136	225				
RGAG1	57529	broad.mit.edu	37	X	109697002	109697002	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chrX:109697002G>C	ENST00000465301.2	+	3	3403	c.3157G>C	c.(3157-3159)Ggc>Cgc	p.G1053R	RGAG1_ENST00000540313.1_Missense_Mutation_p.G1053R	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1053										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CTCTGGATGTGGCATGGGTAT	0.532																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(3157-3159)Ggc>Cgc		retrotransposon gag domain containing 1							76.0	73.0	74.0					X																	109697002		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109697002G>C	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.3157G>C	X.37:g.109697002G>C	ENSP00000419786:p.Gly1053Arg		Somatic				RGAG1_ENST00000540313.1_Missense_Mutation_p.G1053R	p.G1053R	NM_020769.2	NP_065820.1	WXS	Illumina GAIIx	Phase_I	Q8NET4	RGAG1_HUMAN			3	3403	+			1053					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.3157G>C	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	0.901	-0.722366	0.03182	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.52983	0.64;0.64	0.235	0.235	0.15431	.	.	.	.	.	T	0.27798	0.0684	L	0.36672	1.1	0.09310	N	0.999995	P	0.45768	0.866	B	0.32583	0.148	T	0.11991	-1.0565	7	.	.	.	.	.	.	.	.	1053	Q8NET4	RGAG1_HUMAN	R	1053;1053;614	ENSP00000419786:G1053R;ENSP00000441452:G1053R	.	G	+	1	0	RGAG1	109583658	0.930000	0.31532	0.269000	0.24586	0.676000	0.39594	0.364000	0.20325	0.288000	0.22398	0.292000	0.19580	GGC		0.532	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		6	339	0	0	0	1	0	6	339				
ATP8B5P	158381	broad.mit.edu	37	9	35449946	35449946	+	RNA	SNP	G	G	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr9:35449946G>C	ENST00000430846.1	+	0	2796									ATPase, class I, type 8B, member 5, pseudogene																		CAGTGTCCCAGAAGCCCAGTC	0.403																																						ENST00000430846.1																			0																																																			158381							g.chr9:35449946G>C			9p13.3	2010-09-22			ENSG00000179766	ENSG00000179766		"""ATPases / P-type"""	27245	pseudogene	pseudogene	"""flippase expressed in testis splicing form A pseudogene"""					20210903, 19657017	Standard	NR_003582		Approved	FetA	uc010mkn.2		OTTHUMG00000019862		9.37:g.35449946G>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	2796	+									RNA	SNP	ENST00000430846.1	37																																																																																						0.403	ATP8B5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052312.1	NR_003581.1		42	100	0	0	0	1	0	42	100				
XBP1	7494	broad.mit.edu	37	22	29193181	29193181	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr22:29193181A>C	ENST00000216037.6	-	3	409	c.337T>G	c.(337-339)Ttg>Gtg	p.L113V	XBP1_ENST00000344347.5_Missense_Mutation_p.L113V|XBP1_ENST00000403532.3_Missense_Mutation_p.L118V|XBP1_ENST00000405219.3_Missense_Mutation_p.L63V	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN	X-box binding protein 1	113	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial cell maturation involved in salivary gland development (GO:0060691)|exocrine pancreas development (GO:0031017)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|serotonin secretion, neurotransmission (GO:0060096)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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)			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						TTTTCTAGCAAAAGTTTTTGG	0.383																																						ENST00000216037.6																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						c.(337-339)Ttg>Gtg		X-box binding protein 1							56.0	59.0	58.0					22																	29193181		2203	4300	6503	SO:0001583	missense	7494				immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:29193181A>C	M31627	CCDS13847.1	22q12.1	2013-01-10			ENSG00000100219	ENSG00000100219		"""basic leucine zipper proteins"""	12801	protein-coding gene	gene with protein product		194355		XBP2		1718857, 2196176	Standard	NM_001079539		Approved		uc003aec.3	P17861	OTTHUMG00000151094	ENST00000216037.6:c.337T>G	22.37:g.29193181A>C	ENSP00000216037:p.Leu113Val		Somatic				XBP1_ENST00000405219.3_Missense_Mutation_p.L63V|XBP1_ENST00000403532.3_Missense_Mutation_p.L118V|XBP1_ENST00000344347.5_Missense_Mutation_p.L113V	p.L113V	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	WXS	Illumina GAIIx	Phase_I	P17861	XBP1_HUMAN			3	409	-			113			Leucine-zipper.		Q8WYK6|Q969P1|Q96BD7	Missense_Mutation	SNP	ENST00000216037.6	37	c.337T>G	CCDS13847.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.181145	0.38511	.	.	ENSG00000100219	ENST00000216037;ENST00000403532;ENST00000344347;ENST00000405219	.	.	.	5.87	-1.59	0.08453	.	0.184105	0.47455	D	0.000236	T	0.27098	0.0664	L	0.27053	0.805	0.30787	N	0.741316	B;D	0.54964	0.149;0.969	B;P	0.50590	0.093;0.645	T	0.34850	-0.9812	9	0.29301	T	0.29	.	7.648	0.28331	0.4307:0.0:0.4542:0.115	.	113;63	P17861-2;B1AHH1	.;.	V	113;118;113;63	.	ENSP00000216037:L113V	L	-	1	2	XBP1	27523181	0.991000	0.36638	0.806000	0.32338	0.995000	0.86356	0.451000	0.21779	-0.568000	0.06038	-0.336000	0.08194	TTG		0.383	XBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321274.1	NM_005080		3	48	0	0	0	1	0	3	48				
CACNA1B	774	broad.mit.edu	37	9	140948382	140948382	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr9:140948382G>A	ENST00000371372.1	+	26	4037	c.3892G>A	c.(3892-3894)Gtc>Atc	p.V1298I	CACNA1B_ENST00000371355.4_Missense_Mutation_p.V1299I|CACNA1B_ENST00000371357.1_Missense_Mutation_p.V1299I|CACNA1B_ENST00000277549.5_Missense_Mutation_p.V494I|CACNA1B_ENST00000371363.1_Missense_Mutation_p.V1298I|CACNA1B_ENST00000277551.2_Missense_Mutation_p.V1298I	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1298					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CATATTTGCCGTCATTGCGGT	0.493																																						ENST00000277549.5																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(1480-1482)Gtc>Atc		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						318.0	320.0	319.0					9																	140948382		2088	4222	6310	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140948382G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.3892G>A	9.37:g.140948382G>A	ENSP00000360423:p.Val1298Ile		Somatic				CACNA1B_ENST00000277551.2_Missense_Mutation_p.V1298I|CACNA1B_ENST00000371355.4_Missense_Mutation_p.V1299I|CACNA1B_ENST00000371357.1_Missense_Mutation_p.V1299I|CACNA1B_ENST00000371363.1_Missense_Mutation_p.V1298I|CACNA1B_ENST00000371372.1_Missense_Mutation_p.V1298I	p.V494I			WXS	Illumina GAIIx	Phase_I	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	27	4049	+	all_cancers(76;0.166)		1298					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.1480G>A	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188959	0.78789	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.98150	-4.75;-4.75;-4.75;-4.75;-4.75;-4.75	4.36	4.36	0.52297	.	0.000000	0.64402	D	0.000001	D	0.97486	0.9177	L	0.28458	0.855	0.80722	D	1	B;D;D	0.76494	0.123;0.999;0.999	B;D;D	0.72075	0.055;0.976;0.976	D	0.98498	1.0613	10	0.54805	T	0.06	.	17.3015	0.87183	0.0:0.0:1.0:0.0	.	1298;1299;1298	B1AQK4;B1AQK7;B1AQK6	.;.;.	I	1298;1298;494;1298;1299;1299	ENSP00000360423:V1298I;ENSP00000277551:V1298I;ENSP00000277549:V494I;ENSP00000360414:V1298I;ENSP00000360408:V1299I;ENSP00000360406:V1299I	ENSP00000277549:V494I	V	+	1	0	CACNA1B	140068203	1.000000	0.71417	0.994000	0.49952	0.723000	0.41478	9.621000	0.98376	2.152000	0.67230	0.306000	0.20318	GTC		0.493	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		5	675	0	0	0	1	0	5	675				
OFD1	8481	broad.mit.edu	37	X	13776512	13776512	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chrX:13776512G>T	ENST00000340096.6	+	15	1926	c.1599G>T	c.(1597-1599)aaG>aaT	p.K533N	OFD1_ENST00000380567.1_Missense_Mutation_p.K393N|OFD1_ENST00000380550.3_Missense_Mutation_p.K493N|OFD1_ENST00000490265.1_3'UTR	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	533					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)	p.K533N(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CTTCTGTAAAGAGTTTAACTA	0.343																																						ENST00000380567.1																			1	Substitution - Missense(1)	p.K533N(1)	kidney(1)	breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(1177-1179)aaG>aaT		oral-facial-digital syndrome 1							56.0	56.0	56.0					X																	13776512		2203	4300	6503	SO:0001583	missense	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13776512G>T	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.1599G>T	X.37:g.13776512G>T	ENSP00000344314:p.Lys533Asn		Somatic				OFD1_ENST00000340096.6_Missense_Mutation_p.K533N|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.K493N	p.K393N			WXS	Illumina GAIIx	Phase_I	O75665	OFD1_HUMAN			16	2051	+			533					B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	ENST00000340096.6	37	c.1179G>T	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	.	8.374	0.835930	0.16820	.	.	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567	D;D;D	0.96522	-2.34;-4.04;-1.94	5.46	2.64	0.31445	.	0.279998	0.38492	N	0.001662	D	0.91253	0.7243	L	0.34521	1.04	0.80722	D	1	B;B;B;B;B	0.27140	0.125;0.125;0.169;0.169;0.125	B;B;B;B;B	0.28553	0.067;0.037;0.091;0.091;0.037	T	0.83287	-0.0035	10	0.33141	T	0.24	-15.7207	5.6009	0.17353	0.2387:0.1395:0.6219:0.0	.	533;493;201;393;533	A8K2T9;O75665-3;B4DLQ3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	N	493;533;393	ENSP00000369923:K493N;ENSP00000344314:K533N;ENSP00000369941:K393N	ENSP00000344314:K533N	K	+	3	2	OFD1	13686433	0.999000	0.42202	0.407000	0.26434	0.247000	0.25773	0.884000	0.28214	0.186000	0.20125	0.600000	0.82982	AAG		0.343	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		7	61	1	0	4.68919e-08	1	5.0746e-08	7	61				
SORL1	6653	broad.mit.edu	37	11	121437700	121437700	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr11:121437700C>A	ENST00000260197.7	+	22	3230	c.3101C>A	c.(3100-3102)gCc>gAc	p.A1034D	SORL1_ENST00000525532.1_5'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1034	EGF-like.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)	p.A1034D(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTGCCCAAGGCCAACAACAGT	0.567																																						ENST00000260197.7																			1	Substitution - Missense(1)	p.A1034D(1)	kidney(1)	NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(3100-3102)gCc>gAc		sortilin-related receptor, L(DLR class) A repeats containing							121.0	93.0	102.0					11																	121437700		2203	4299	6502	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121437700C>A	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.3101C>A	11.37:g.121437700C>A	ENSP00000260197:p.Ala1034Asp		Somatic				SORL1_ENST00000525532.1_5'UTR	p.A1034D	NM_003105.5	NP_003096.1	WXS	Illumina GAIIx	Phase_I	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	22	3230	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1034			EGF-like.		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.3101C>A	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745872	0.49151	.	.	ENSG00000137642	ENST00000260197	D	0.91577	-2.87	4.38	3.47	0.39725	Epidermal growth factor-like (1);	0.343623	0.29822	N	0.011111	D	0.85915	0.5808	L	0.57536	1.79	0.80722	D	1	P	0.40144	0.704	B	0.32762	0.152	D	0.84713	0.0735	10	0.66056	D	0.02	.	9.917	0.41442	0.0:0.8329:0.0:0.1671	.	1034	Q92673	SORL_HUMAN	D	1034	ENSP00000260197:A1034D	ENSP00000260197:A1034D	A	+	2	0	SORL1	120942910	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.310000	0.65780	0.960000	0.38005	-0.373000	0.07131	GCC		0.567	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		13	110	1	0	0.000219431	1	0.000231134	13	110				
GEMIN5	25929	broad.mit.edu	37	5	154278145	154278145	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr5:154278145G>A	ENST00000285873.7	-	23	3275	c.3200C>T	c.(3199-3201)tCa>tTa	p.S1067L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1067					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)	p.S1067L(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGTTCTAAGTGATGCCGCATC	0.478																																						ENST00000285873.7																			1	Substitution - Missense(1)	p.S1067L(1)	kidney(1)	breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(3199-3201)tCa>tTa		gem (nuclear organelle) associated protein 5							82.0	74.0	77.0					5																	154278145		2203	4300	6503	SO:0001583	missense	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154278145G>A	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.3200C>T	5.37:g.154278145G>A	ENSP00000285873:p.Ser1067Leu		Somatic					p.S1067L	NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	WXS	Illumina GAIIx	Phase_I	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		23	3275	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	1067					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	c.3200C>T	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	G	34	5.370261	0.95900	.	.	ENSG00000082516	ENST00000285873	T	0.72282	-0.64	5.91	5.91	0.95273	.	0.136284	0.51477	D	0.000096	D	0.85013	0.5600	M	0.75264	2.295	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.85468	0.1171	10	0.87932	D	0	-4.5914	20.2985	0.98592	0.0:0.0:1.0:0.0	.	1066;1067	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	L	1067	ENSP00000285873:S1067L	ENSP00000285873:S1067L	S	-	2	0	GEMIN5	154258338	1.000000	0.71417	0.984000	0.44739	0.967000	0.64934	8.736000	0.91554	2.793000	0.96121	0.655000	0.94253	TCA		0.478	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			4	65	0	0	0	1	0	4	65				
HNRNPCL1	343069	broad.mit.edu	37	1	12907356	12907356	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:12907356C>T	ENST00000317869.6	-	2	1012	c.787G>A	c.(787-789)Ggg>Agg	p.G263R		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	263						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G263R(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TGGTCATCCCCCTGATCTTCA	0.502																																						ENST00000317869.6																			1	Substitution - Missense(1)	p.G263R(1)	kidney(1)	NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(787-789)Ggg>Agg		heterogeneous nuclear ribonucleoprotein C-like 1							143.0	156.0	151.0					1																	12907356		2203	4300	6503	SO:0001583	missense	343069							g.chr1:12907356C>T	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.787G>A	1.37:g.12907356C>T	ENSP00000365370:p.Gly263Arg		Somatic					p.G263R	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	WXS	Illumina GAIIx	Phase_I					2	1012	-								B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.787G>A	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	10.96	1.499023	0.26861	.	.	ENSG00000179172	ENST00000317869	T	0.10192	2.9	1.09	1.09	0.20402	.	0.336255	0.26442	U	0.024359	T	0.25269	0.0614	M	0.65498	2.005	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01099	-1.1452	10	0.72032	D	0.01	.	8.1133	0.30928	0.0:1.0:0.0:0.0	.	263	O60812	HNRCL_HUMAN	R	263	ENSP00000365370:G263R	ENSP00000365370:G263R	G	-	1	0	HNRNPCL1	12829943	0.252000	0.23972	0.006000	0.13384	0.002000	0.02628	3.306000	0.51881	0.916000	0.36871	0.416000	0.27883	GGG		0.502	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		120	344	0	0	0	1	0	120	344				
ACAA1	30	broad.mit.edu	37	3	38163910	38163910	+	IGR	SNP	G	G	A	rs369229329		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr3:38163910G>A	ENST00000333167.8	-	0	1785				ACAA1_ENST00000480865.1_5'Flank|DLEC1_ENST00000452631.2_3'UTR|DLEC1_ENST00000346219.3_Silent_p.P1717P|Y_RNA_ENST00000365095.1_RNA|DLEC1_ENST00000308059.6_3'UTR	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1						alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)	p.P1717P(2)		endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		CTGAGGCTCCGCCCCAGCCCT	0.612																																						ENST00000346219.3																			2	Substitution - coding silent(2)	p.P1717P(2)	large_intestine(1)|kidney(1)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(5149-5151)ccG>ccA		deleted in lung and esophageal cancer 1		G	,	0,3872		0,0,1936	43.0	47.0	46.0		,5151	1.3	0.1	3		46	1,8297		0,1,4148	no	utr-3,coding-synonymous	DLEC1	NM_007335.2,NM_007337.2	,	0,1,6084	AA,AG,GG		0.0121,0.0,0.0082	,	,1717/1779	38163910	1,12169	1936	4149	6085	SO:0001628	intergenic_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38163910G>A	X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"""peroxisomal 3-oxoacyl-Coenzyme A thiolase"""	604054	"""acetyl-Coenzyme A acyltransferase 1"""				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087		3.37:g.38163910G>A			Somatic				DLEC1_ENST00000452631.2_3'UTR|DLEC1_ENST00000308059.6_3'UTR	p.P1717P	NM_007337.2	NP_031363.2	WXS	Illumina GAIIx	Phase_I	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	36	5172	+			0					G5E935|Q96CA6	Silent	SNP	ENST00000333167.8	37	c.5151G>A	CCDS2673.1																																																																																				0.612	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		47	19	0	0	0	1	0	47	19				
CPB2	1361	broad.mit.edu	37	13	46632338	46632338	+	Missense_Mutation	SNP	A	A	T	rs150895932		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr13:46632338A>T	ENST00000181383.4	-	9	991	c.975T>A	c.(973-975)agT>agA	p.S325R	CPB2-AS1_ENST00000606991.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.S288R|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	325		Cleavage; by thrombin.			blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		CTTTGCTTTTACTTCGTGTAT	0.328																																						ENST00000181383.4																			0				NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(973-975)agT>agA		carboxypeptidase B2 (plasma)							163.0	157.0	159.0					13																	46632338		2203	4300	6503	SO:0001583	missense	1361				blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr13:46632338A>T	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.975T>A	13.37:g.46632338A>T	ENSP00000181383:p.Ser325Arg		Somatic				CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.S288R|CPB2-AS1_ENST00000606351.1_RNA	p.S325R	NM_001872.3	NP_001863.3	WXS	Illumina GAIIx	Phase_I	Q96IY4	CBPB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)	9	991	-		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	325				Cleavage; by thrombin.	A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Missense_Mutation	SNP	ENST00000181383.4	37	c.975T>A	CCDS9401.1	.	.	.	.	.	.	.	.	.	.	A	7.261	0.605207	0.14002	.	.	ENSG00000080618	ENST00000181383;ENST00000439329	T;T	0.11821	2.74;2.74	5.86	5.02	0.67125	Peptidase M14, carboxypeptidase A (2);	0.353337	0.40144	N	0.001172	T	0.09512	0.0234	N	0.25485	0.75	0.35046	D	0.760221	B;B	0.26708	0.157;0.149	B;B	0.22880	0.038;0.042	T	0.24119	-1.0169	10	0.27785	T	0.31	.	10.0135	0.42001	0.0723:0.1365:0.7911:0.0	.	288;325	Q96IY4-2;Q96IY4	.;CBPB2_HUMAN	R	325;288	ENSP00000181383:S325R;ENSP00000400714:S288R	ENSP00000181383:S325R	S	-	3	2	CPB2	45530339	0.017000	0.18338	0.998000	0.56505	0.183000	0.23260	0.024000	0.13555	1.487000	0.48415	-0.146000	0.13790	AGT		0.328	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872		6	212	0	0	0	1	0	6	212				
KIAA0368	23392	broad.mit.edu	37	9	114134741	114134741	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr9:114134741A>T	ENST00000338205.5	-	41	4715	c.4496T>A	c.(4495-4497)tTa>tAa	p.L1499*	KIAA0368_ENST00000259335.4_Nonsense_Mutation_p.L1677*|KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000465499.1_5'Flank			Q5VYK3	ECM29_HUMAN	KIAA0368	1505					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.L1677*(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TTCGGTCCATAAATTACATTC	0.398																																						ENST00000259335.4																			1	Substitution - Nonsense(1)	p.L1677*(1)	kidney(1)	NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(5029-5031)tTa>tAa		KIAA0368							124.0	118.0	120.0					9																	114134741		1864	4105	5969	SO:0001587	stop_gained	23392							g.chr9:114134741A>T	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.4496T>A	9.37:g.114134741A>T	ENSP00000339889:p.Leu1499*		Somatic				KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000338205.5_Nonsense_Mutation_p.L1499*	p.L1677*	NM_001080398.1	NP_001073867.1	WXS	Illumina GAIIx	Phase_I					43	5029	-								O15074|Q8WU82	Nonsense_Mutation	SNP	ENST00000338205.5	37	c.5030T>A		.	.	.	.	.	.	.	.	.	.	A	47	13.839404	0.99766	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	.	.	.	5.94	5.94	0.96194	.	0.083486	0.50627	D	0.000103	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4075	0.83691	1.0:0.0:0.0:0.0	.	.	.	.	X	1499;1677;974	.	ENSP00000259335:L1677X	L	-	2	0	KIAA0368	113174562	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.767000	0.91732	2.275000	0.75901	0.528000	0.53228	TTA		0.398	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		109	206	0	0	0	1	0	109	206				
BCORL1	63035	broad.mit.edu	37	X	129148444	129148444	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chrX:129148444C>A	ENST00000218147.7	+	4	1893	c.1696C>A	c.(1696-1698)Cct>Act	p.P566T	BCORL1_ENST00000359304.2_Missense_Mutation_p.P566T|BCORL1_ENST00000303743.5_Missense_Mutation_p.P566T|BCORL1_ENST00000540052.1_Missense_Mutation_p.P566T			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	566	Pro-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P566T(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AACTCCACAGCCTCTGCTGCC	0.632																																						ENST00000540052.1																			1	Substitution - Missense(1)	p.P566T(1)	kidney(1)	breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(1696-1698)Cct>Act		BCL6 corepressor-like 1							62.0	63.0	63.0					X																	129148444		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129148444C>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.1696C>A	X.37:g.129148444C>A	ENSP00000218147:p.Pro566Thr		Somatic				BCORL1_ENST00000303743.5_Missense_Mutation_p.P566T|BCORL1_ENST00000359304.2_Missense_Mutation_p.P566T|BCORL1_ENST00000218147.7_Missense_Mutation_p.P566T	p.P566T	NM_021946.4	NP_068765.3	WXS	Illumina GAIIx	Phase_I	Q5H9F3	BCORL_HUMAN			3	1740	+			566			Pro-rich.		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.1696C>A	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	13.06|13.06	2.124434|2.124434	0.37533|0.37533	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000441294|ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	.|T;T;T;T;T	.|0.39787	.|1.08;1.45;1.06;1.08;1.53	5.68|5.68	4.82|4.82	0.62117|0.62117	.|.	.|0.226622	.|0.22716	.|N	.|0.056518	T|T	0.24774|0.24774	0.0601|0.0601	N|N	0.24115|0.24115	0.695|0.695	0.30479|0.30479	N|N	0.772511|0.772511	.|B;P	.|0.43094	.|0.015;0.799	.|B;B	.|0.38378	.|0.013;0.272	T|T	0.14337|0.14337	-1.0476|-1.0476	5|10	.|0.32370	.|T	.|0.25	-3.5471|-3.5471	5.7611|5.7611	0.18201|0.18201	0.1233:0.6012:0.1987:0.0768|0.1233:0.6012:0.1987:0.0768	.|.	.|566;566	.|Q5H9F3-2;Q5H9F3	.|.;BCORL_HUMAN	D|T	1|566;566;566;566;166	.|ENSP00000218147:P566T;ENSP00000307541:P566T;ENSP00000352253:P566T;ENSP00000437775:P566T;ENSP00000399483:P166T	.|ENSP00000218147:P566T	A|P	+|+	2|1	0|0	BCORL1|BCORL1	128976125|128976125	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	0.698000|0.698000	0.25571|0.25571	1.183000|1.183000	0.42943|0.42943	0.525000|0.525000	0.51046|0.51046	GCC|CCT		0.632	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		55	74	1	0	2.80097e-13	1	3.13127e-13	55	74				
XKR7	343702	broad.mit.edu	37	20	30556225	30556225	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr20:30556225C>G	ENST00000562532.2	+	1	421	c.247C>G	c.(247-249)Ctg>Gtg	p.L83V		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	83						integral component of membrane (GO:0016021)		p.L83V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTCCTACTACCTGCAGAATCA	0.622																																						ENST00000217299.3																			1	Substitution - Missense(1)	p.L83V(1)	kidney(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(247-249)Ctg>Gtg		XK, Kell blood group complex subunit-related family, member 7							68.0	56.0	60.0					20																	30556225		2203	4300	6503	SO:0001583	missense	343702					integral to membrane		g.chr20:30556225C>G	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.247C>G	20.37:g.30556225C>G	ENSP00000477059:p.Leu83Val		Somatic					p.L83V	NM_001011718.1	NP_001011718.1	WXS	Illumina GAIIx	Phase_I	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		1	421	+			83					Q9NUG5	Missense_Mutation	SNP	ENST00000562532.2	37	c.247C>G	CCDS33459.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460296	0.43736	.	.	ENSG00000101321	ENST00000217299	T	0.64803	-0.12	3.41	2.42	0.29668	.	0.236341	0.27289	N	0.020049	T	0.58148	0.2102	M	0.71581	2.175	0.41522	D	0.988403	P	0.41475	0.751	B	0.42138	0.377	T	0.53961	-0.8364	10	0.16896	T	0.51	-8.897	9.5646	0.39391	0.2278:0.7721:0.0:0.0	.	83	Q5GH72	XKR7_HUMAN	V	83	ENSP00000217299:L83V	ENSP00000217299:L83V	L	+	1	2	XKR7	30019886	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.466000	0.35310	0.716000	0.32124	0.637000	0.83480	CTG		0.622	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718		24	84	0	0	0	1	0	24	84				
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	NDUFS1_ENST00000423725.1_5'Flank|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|SNORD51_ENST00000384320.2_RNA|SNORA41_ENST00000384675.1_RNA	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468																																						ENST00000392222.2																			4	Substitution - Missense(4)	p.S43G(4)	endometrium(2)|lung(1)|kidney(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(127-129)Agc>Ggc		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025358		2203	4300	6503	SO:0001583	missense	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025358A>G	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.127A>G	2.37:g.207025358A>G	ENSP00000376056:p.Ser43Gly		Somatic				EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G	p.S43G	NM_001959.3	NP_001950.1	WXS	Illumina GAIIx	Phase_I	P24534	EF1B_HUMAN			2	502	+			43			GST C-terminal.		A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	c.127A>G	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.585588	0.00872	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222;ENST00000445505	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.47	0.911	0.19343	Glutathione S-transferase, C-terminal-like (2);	0.442134	0.26800	N	0.022437	T	0.19846	0.0477	N	0.16098	0.37	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	10	0.17832	T	0.49	-2.1703	6.3337	0.21285	0.2348:0.0:0.6384:0.1268	.	43	P24534	EF1B_HUMAN	G	43	ENSP00000236957:S43G;ENSP00000376055:S43G;ENSP00000376056:S43G;ENSP00000407730:S43G	ENSP00000236957:S43G	S	+	1	0	EEF1B2	206733603	0.049000	0.20398	0.145000	0.22337	0.051000	0.14879	0.879000	0.28146	-0.027000	0.13873	-0.252000	0.11476	AGC		0.468	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		4	51	0	0	0	1	0	4	51				
GCNT3	9245	broad.mit.edu	37	15	59910566	59910566	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr15:59910566G>A	ENST00000396065.1	+	3	577	c.129G>A	c.(127-129)gaG>gaA	p.E43E	GCNT3_ENST00000560585.1_Silent_p.E43E	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	43					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.E43E(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGGTCTGGAGTCCAGGGAAT	0.488																																						ENST00000396065.1																			1	Substitution - coding silent(1)	p.E43E(1)	kidney(1)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(127-129)gaG>gaA		glucosaminyl (N-acetyl) transferase 3, mucin type							98.0	102.0	101.0					15																	59910566		2190	4290	6480	SO:0001819	synonymous_variant	9245				protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr15:59910566G>A	AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.129G>A	15.37:g.59910566G>A			Somatic				GCNT3_ENST00000560585.1_Silent_p.E43E	p.E43E	NM_004751.2	NP_004742.1	WXS	Illumina GAIIx	Phase_I	O95395	GCNT3_HUMAN			3	577	+			43						Silent	SNP	ENST00000396065.1	37	c.129G>A	CCDS10172.1																																																																																				0.488	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256068.1	NM_004751		56	58	0	0	0	1	0	56	58				
MAST4	375449	broad.mit.edu	37	5	66462356	66462356	+	Missense_Mutation	SNP	G	G	A	rs576028127		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr5:66462356G>A	ENST00000403625.2	+	29	7644	c.7349G>A	c.(7348-7350)cGa>cAa	p.R2450Q	MAST4_ENST00000261569.7_Missense_Mutation_p.R2256Q|MAST4_ENST00000405643.1_Missense_Mutation_p.R2271Q|MAST4_ENST00000403666.1_Missense_Mutation_p.R2261Q|MAST4_ENST00000404260.3_Missense_Mutation_p.R2453Q	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2453						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.R2453Q(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGTTCTTTCCGATCCACGGCC	0.632											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000404260.3																			1	Substitution - Missense(1)	p.R2453Q(1)	kidney(1)	breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(7357-7359)cGa>cAa		microtubule associated serine/threonine kinase family member 4							17.0	22.0	20.0					5																	66462356		1984	4166	6150	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66462356G>A	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.7349G>A	5.37:g.66462356G>A	ENSP00000385727:p.Arg2450Gln		Somatic	OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1092	MAST4_ENST00000403666.1_Missense_Mutation_p.R2261Q|MAST4_ENST00000403625.2_Missense_Mutation_p.R2450Q|MAST4_ENST00000261569.7_Missense_Mutation_p.R2256Q|MAST4_ENST00000405643.1_Missense_Mutation_p.R2271Q	p.R2453Q			WXS	Illumina GAIIx	Phase_I	O15021	MAST4_HUMAN		Lung(70;0.011)	29	7666	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	2453					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.7358G>A	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.581313	0.28180	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	T;T;T;T;T	0.67171	-0.24;-0.24;-0.25;-0.25;-0.23	4.94	1.98	0.26296	.	0.203577	0.25004	N	0.033884	T	0.63815	0.2543	L	0.29908	0.895	0.09310	N	1	D;D	0.67145	0.993;0.996	P;P	0.56398	0.632;0.797	T	0.56141	-0.8028	10	0.72032	D	0.01	-4.7524	9.3882	0.38356	0.2608:0.0:0.7392:0.0	.	2453;2261	O15021;O15021-3	MAST4_HUMAN;.	Q	2453;2450;2261;2271;2271;2256	ENSP00000385048:R2453Q;ENSP00000385727:R2450Q;ENSP00000384313:R2261Q;ENSP00000384099:R2271Q;ENSP00000261569:R2256Q	ENSP00000261569:R2256Q	R	+	2	0	MAST4	66498112	0.000000	0.05858	0.001000	0.08648	0.064000	0.16182	0.113000	0.15499	0.686000	0.31488	0.462000	0.41574	CGA		0.632	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			4	9	0	0	0	1	0	4	9				
FOXI1	2299	broad.mit.edu	37	5	169533534	169533534	+	Splice_Site	SNP	G	G	A	rs200309754		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr5:169533534G>A	ENST00000306268.6	+	1	634	c.573G>A	c.(571-573)ccG>ccA	p.P191P	FOXI1_ENST00000449804.2_Splice_Site_p.P191P			Q12951	FOXI1_HUMAN	forkhead box I1	191					embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGACGACCCGGGTAAGGAGG	0.592									Pendred syndrome																													ENST00000449804.2																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.e1+1		forkhead box I1		G	,	0,4402		0,0,2201	32.0	36.0	34.0		573,573	-9.7	0.3	5		34	3,8597	3.0+/-9.4	0,3,4297	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	FOXI1	NM_012188.4,NM_144769.2	,	0,3,6498	AA,AG,GG		0.0349,0.0,0.0231	,	191/379,191/284	169533534	3,12999	2201	4300	6501	SO:0001630	splice_region_variant	2299	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr5:169533534G>A	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.574+1G>A	5.37:g.169533534G>A			Somatic				FOXI1_ENST00000306268.6_Splice_Site_p.P191_splice	p.P191_splice	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	WXS	Illumina GAIIx	Phase_I	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	618	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	191					Q14518|Q66SR7|Q8N6L8	Splice_Site	SNP	ENST00000306268.6	37	c.574_splice	CCDS4372.1																																																																																				0.592	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188	Silent	3	139	0	0	0	1	0	3	139				
PRKAG3	53632	broad.mit.edu	37	2	219691750	219691750	+	Silent	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:219691750G>T	ENST00000529249.1	-	10	1384	c.1069C>A	c.(1069-1071)Cga>Aga	p.R357R	PRKAG3_ENST00000392098.3_Silent_p.S341S|PRKAG3_ENST00000545803.1_Silent_p.R173R|PRKAG3_ENST00000439262.2_Silent_p.R332R			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	357	CBS 3. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	GCCAAGTCTCGGAATGTGCCG	0.592																																						ENST00000439262.2																			0				large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(994-996)Cga>Aga		protein kinase, AMP-activated, gamma 3 non-catalytic subunit							112.0	111.0	111.0					2																	219691750		2203	4300	6503	SO:0001819	synonymous_variant	53632				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	g.chr2:219691750G>T	AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.1069C>A	2.37:g.219691750G>T			Somatic				PRKAG3_ENST00000529249.1_Silent_p.R357R|PRKAG3_ENST00000545803.1_Silent_p.R173R|PRKAG3_ENST00000392098.3_Silent_p.S341S	p.R332R	NM_017431.2	NP_059127.2	WXS	Illumina GAIIx	Phase_I	Q9UGI9	AAKG3_HUMAN		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1089	-		Renal(207;0.0474)	357			CBS 2.		Q4QQG8|Q4V779|Q9NRL1	Silent	SNP	ENST00000529249.1	37	c.994C>A	CCDS2424.1																																																																																				0.592	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1			4	343	1	0	0.150653	1	0.151292	4	343				
ZFHX3	463	broad.mit.edu	37	16	72822456	72822456	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr16:72822456A>T	ENST00000268489.5	-	10	10391	c.9719T>A	c.(9718-9720)gTa>gAa	p.V3240E	ZFHX3_ENST00000397992.5_Missense_Mutation_p.V2326E|RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3240					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTTCTCCTTTACTTTCTCACT	0.607																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(9718-9720)gTa>gAa		zinc finger homeobox 3							170.0	181.0	177.0					16																	72822456		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72822456A>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.9719T>A	16.37:g.72822456A>T	ENSP00000268489:p.Val3240Glu		Somatic				ZFHX3_ENST00000397992.5_Missense_Mutation_p.V2326E	p.V3240E	NM_006885.3	NP_008816.3	WXS	Illumina GAIIx	Phase_I	Q15911	ZFHX3_HUMAN			10	10391	-		Ovarian(137;0.13)	3240					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.9719T>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	A	8.866	0.948211	0.18356	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.72615	-0.67;-0.64	5.55	-1.1	0.09872	.	0.882556	0.09377	N	0.810433	T	0.46367	0.1389	N	0.04959	-0.14	0.09310	N	1	B	0.17667	0.023	B	0.20384	0.029	T	0.26573	-1.0099	10	0.29301	T	0.29	.	8.4647	0.32949	0.4245:0.4511:0.1244:0.0	.	3240	Q15911	ZFHX3_HUMAN	E	3240;2326	ENSP00000268489:V3240E;ENSP00000438926:V2326E	ENSP00000268489:V3240E	V	-	2	0	ZFHX3	71379957	0.000000	0.05858	0.065000	0.19835	0.975000	0.68041	-0.058000	0.11750	-0.505000	0.06568	0.455000	0.32223	GTA		0.607	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		6	520	0	0	0	1	0	6	520				
SLC5A1	6523	broad.mit.edu	37	22	32495177	32495177	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr22:32495177A>T	ENST00000266088.4	+	12	1538	c.1288A>T	c.(1288-1290)Atc>Ttc	p.I430F	SLC5A1_ENST00000543737.1_Missense_Mutation_p.I303F	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	430					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	CAGGTTGTTTATCCTGGTGCT	0.368																																						ENST00000266088.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						c.(1288-1290)Atc>Ttc		solute carrier family 5 (sodium/glucose cotransporter), member 1							114.0	105.0	108.0					22																	32495177		2203	4300	6503	SO:0001583	missense	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32495177A>T		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1288A>T	22.37:g.32495177A>T	ENSP00000266088:p.Ile430Phe		Somatic				SLC5A1_ENST00000543737.1_Missense_Mutation_p.I303F	p.I430F	NM_000343.3	NP_000334.1	WXS	Illumina GAIIx	Phase_I	P13866	SC5A1_HUMAN			12	1538	+			430					B2R7E2|B7Z4Q9|B7ZA69	Missense_Mutation	SNP	ENST00000266088.4	37	c.1288A>T	CCDS13902.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.716147	0.89205	.	.	ENSG00000100170	ENST00000266088;ENST00000543737	D;D	0.90444	-2.67;-2.67	5.29	5.29	0.74685	.	0.235577	0.49916	D	0.000123	D	0.93291	0.7862	M	0.83774	2.66	0.80722	D	1	P	0.46064	0.872	P	0.49597	0.616	D	0.94196	0.7445	10	0.87932	D	0	.	14.4294	0.67238	1.0:0.0:0.0:0.0	.	430	P13866	SC5A1_HUMAN	F	430;303	ENSP00000266088:I430F;ENSP00000444898:I303F	ENSP00000266088:I430F	I	+	1	0	SLC5A1	30825177	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.284000	0.78650	2.003000	0.58678	0.455000	0.32223	ATC		0.368	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		6	364	0	0	0	1	0	6	364				
OR6K2	81448	broad.mit.edu	37	1	158670151	158670151	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:158670151G>A	ENST00000359610.2	-	1	335	c.292C>T	c.(292-294)Ctg>Ttg	p.L98L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TACATCTGCAGGAGACAACCA	0.473																																						ENST00000359610.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(292-294)Ctg>Ttg		olfactory receptor, family 6, subfamily K, member 2							101.0	96.0	97.0					1																	158670151		2203	4300	6503	SO:0001819	synonymous_variant	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158670151G>A	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.292C>T	1.37:g.158670151G>A			Somatic					p.L98L	NM_001005279.1	NP_001005279.1	WXS	Illumina GAIIx	Phase_I	Q8NGY2	OR6K2_HUMAN			1	335	-	all_hematologic(112;0.0378)		98					B9EH33|Q6IFR6	Silent	SNP	ENST00000359610.2	37	c.292C>T	CCDS30902.1																																																																																				0.473	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		4	280	0	0	0	1	0	4	280				
KMT2C	58508	broad.mit.edu	37	7	151945210	151945210	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr7:151945210A>T	ENST00000262189.6	-	14	2527	c.2309T>A	c.(2308-2310)tTt>tAt	p.F770Y	KMT2C_ENST00000355193.2_Missense_Mutation_p.F770Y	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	770					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.F770Y(2)									TGATGATGAAAATGATGACTC	0.423																																						ENST00000355193.2																			2	Substitution - Missense(2)	p.F770Y(2)	kidney(2)								c.(2308-2310)tTt>tAt		lysine (K)-specific methyltransferase 2C							157.0	140.0	146.0					7																	151945210		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151945210A>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.2309T>A	7.37:g.151945210A>T	ENSP00000262189:p.Phe770Tyr		Somatic				KMT2C_ENST00000262189.6_Missense_Mutation_p.F770Y	p.F770Y			WXS	Illumina GAIIx	Phase_I					14	2527	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2309T>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	5.333	0.246762	0.10130	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83335	-1.71;-1.71	5.68	4.47	0.54385	.	0.295679	0.23957	N	0.042885	T	0.72447	0.3461	L	0.29908	0.895	0.21220	N	0.999755	B	0.31730	0.337	B	0.25614	0.062	T	0.64850	-0.6310	10	0.66056	D	0.02	.	11.2411	0.48970	0.9246:0.0:0.0754:0.0	.	770	Q8NEZ4	MLL3_HUMAN	Y	770	ENSP00000262189:F770Y;ENSP00000347325:F770Y	ENSP00000262189:F770Y	F	-	2	0	MLL3	151576143	0.147000	0.22687	0.001000	0.08648	0.022000	0.10575	3.882000	0.56160	0.903000	0.36546	0.528000	0.53228	TTT		0.423	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			4	434	0	0	0	1	0	4	434				
SPIRE2	84501	broad.mit.edu	37	16	89929985	89929985	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr16:89929985C>A	ENST00000378247.3	+	11	1720	c.1677C>A	c.(1675-1677)aaC>aaA	p.N559K	SPIRE2_ENST00000393062.2_Missense_Mutation_p.N559K	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	559					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.N559K(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		TTTTGCAGAACAAGGAGCTCT	0.617																																						ENST00000378247.3																			1	Substitution - Missense(1)	p.N559K(1)	kidney(1)	central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1675-1677)aaC>aaA		spire-type actin nucleation factor 2							81.0	70.0	74.0					16																	89929985		2197	4300	6497	SO:0001583	missense	84501				transport	cytoplasm|cytoskeleton	actin binding	g.chr16:89929985C>A	AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.1677C>A	16.37:g.89929985C>A	ENSP00000367494:p.Asn559Lys		Somatic				SPIRE2_ENST00000393062.2_Missense_Mutation_p.N559K	p.N559K	NM_032451.1	NP_115827.1	WXS	Illumina GAIIx	Phase_I	Q8WWL2	SPIR2_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0286)	11	1720	+		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)	559					A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Missense_Mutation	SNP	ENST00000378247.3	37	c.1677C>A	CCDS32516.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323569	0.41096	.	.	ENSG00000204991	ENST00000378247;ENST00000393062	T;T	0.75704	-0.96;0.98	5.5	0.781	0.18561	Zinc finger, FYVE/PHD-type (1);	0.402149	0.31772	N	0.007093	T	0.59211	0.2177	L	0.38838	1.175	0.80722	D	1	P;B;P;B	0.38504	0.493;0.132;0.634;0.013	B;B;B;B	0.36845	0.116;0.209;0.234;0.007	T	0.50508	-0.8820	10	0.17832	T	0.49	-32.2363	10.9923	0.47557	0.0:0.6936:0.0:0.3064	.	426;559;511;559	Q8WWL2-4;Q8WWL2-2;Q8WWL2-3;Q8WWL2	.;.;.;SPIR2_HUMAN	K	559	ENSP00000367494:N559K;ENSP00000376782:N559K	ENSP00000367494:N559K	N	+	3	2	SPIRE2	88457486	1.000000	0.71417	0.942000	0.38095	0.986000	0.74619	1.875000	0.39578	0.294000	0.22547	0.313000	0.20887	AAC		0.617	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462		13	26	1	0	6.72482e-11	1	7.37863e-11	13	26				
FREM2	341640	broad.mit.edu	37	13	39266437	39266437	+	Silent	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr13:39266437C>T	ENST00000280481.7	+	1	5172	c.4956C>T	c.(4954-4956)gaC>gaT	p.D1652D		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1652					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGGCTGTTGACAACAGTGTCC	0.478																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(4954-4956)gaC>gaT		FRAS1 related extracellular matrix protein 2							84.0	83.0	84.0					13																	39266437		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39266437C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4956C>T	13.37:g.39266437C>T			Somatic					p.D1652D	NM_207361.4	NP_997244.3	WXS	Illumina GAIIx	Phase_I	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	5172	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1652					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.4956C>T	CCDS31960.1																																																																																				0.478	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		13	143	0	0	0	1	0	13	143				
ZFAT	57623	broad.mit.edu	37	8	135622826	135622826	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr8:135622826C>T	ENST00000377838.3	-	4	695	c.521G>A	c.(520-522)cGg>cAg	p.R174Q	ZFAT_ENST00000520727.1_Missense_Mutation_p.R162Q|ZFAT_ENST00000429442.2_Missense_Mutation_p.R162Q|ZFAT_ENST00000520214.1_Missense_Mutation_p.R162Q|ZFAT_ENST00000523399.1_Intron|ZFAT_ENST00000520356.1_Missense_Mutation_p.R162Q	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	174					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|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 positive regulation of transcription (GO:0001077)	p.R162Q(1)|p.R174Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TTTCTGTGACCGTGGTCTTTT	0.448																																						ENST00000520727.1																			2	Substitution - Missense(2)	p.R162Q(1)|p.R174Q(1)	endometrium(2)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(484-486)cGg>cAg		zinc finger and AT hook domain containing							161.0	153.0	155.0					8																	135622826		1917	4119	6036	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135622826C>T	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.521G>A	8.37:g.135622826C>T	ENSP00000367069:p.Arg174Gln		Somatic				ZFAT_ENST00000520356.1_Missense_Mutation_p.R162Q|ZFAT_ENST00000429442.2_Missense_Mutation_p.R162Q|ZFAT_ENST00000520214.1_Missense_Mutation_p.R162Q|ZFAT_ENST00000523399.1_Intron|ZFAT_ENST00000377838.3_Missense_Mutation_p.R174Q	p.R162Q	NM_001029939.3	NP_001025110.2	WXS	Illumina GAIIx	Phase_I	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		5	784	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		174					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.485G>A	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.742922	0.69418	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000398946;ENST00000522257	T;T;T;T;T;T	0.50277	2.86;2.8;2.8;2.79;2.8;0.75	5.36	5.36	0.76844	.	0.075937	0.48286	D	0.000183	T	0.60301	0.2258	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	P;D;D	0.83275	0.54;0.996;0.988	T	0.62272	-0.6889	10	0.59425	D	0.04	-29.676	18.0801	0.89440	0.0:1.0:0.0:0.0	.	162;162;174	E9PBN4;Q9P243-3;Q9P243	.;.;ZFAT_HUMAN	Q	162;162;162;174;162;162;162;112	ENSP00000427879:R162Q;ENSP00000427831:R162Q;ENSP00000394501:R162Q;ENSP00000367069:R174Q;ENSP00000428483:R162Q;ENSP00000429983:R112Q	ENSP00000326997:R162Q	R	-	2	0	ZFAT	135692008	0.998000	0.40836	0.075000	0.20258	0.875000	0.50365	5.418000	0.66429	2.498000	0.84270	0.655000	0.94253	CGG		0.448	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		4	443	0	0	0	1	0	4	443				
ITGB4	3691	broad.mit.edu	37	17	73745083	73745083	+	Silent	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr17:73745083C>T	ENST00000200181.3	+	27	3460	c.3273C>T	c.(3271-3273)caC>caT	p.H1091H	ITGB4_ENST00000449880.2_Silent_p.H1091H|ITGB4_ENST00000339591.3_Silent_p.H1091H|ITGB4_ENST00000450894.3_Silent_p.H1091H|ITGB4_ENST00000579662.1_Silent_p.H1091H	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1091					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)	p.H1091H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGGGGCCCACCTGGGCCAGC	0.642																																						ENST00000200181.3																			1	Substitution - coding silent(1)	p.H1091H(1)	kidney(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(3271-3273)caC>caT		integrin, beta 4							29.0	33.0	32.0					17																	73745083		2203	4300	6503	SO:0001819	synonymous_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73745083C>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.3273C>T	17.37:g.73745083C>T			Somatic				ITGB4_ENST00000450894.3_Silent_p.H1091H|ITGB4_ENST00000339591.3_Silent_p.H1091H|ITGB4_ENST00000449880.2_Silent_p.H1091H|ITGB4_ENST00000579662.1_Silent_p.H1091H	p.H1091H	NM_000213.3	NP_000204.3	WXS	Illumina GAIIx	Phase_I	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		27	3460	+	all_cancers(13;1.5e-07)		1091					A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	ENST00000200181.3	37	c.3273C>T	CCDS11727.1																																																																																				0.642	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			4	13	0	0	0	1	0	4	13				
ATP5G2	517	broad.mit.edu	37	12	54063711	54063711	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr12:54063711G>A	ENST00000549164.1	-	3	248	c.61C>T	c.(61-63)Ctg>Ttg	p.L21L	ATP5G2_ENST00000550241.1_5'Flank|ATP5G2_ENST00000602871.1_Silent_p.L21L|ATP5G2_ENST00000394349.3_Silent_p.L78L|ATP5G2_ENST00000338662.5_Silent_p.L37L			Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)	21					ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)|response to ethanol (GO:0045471)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						GGACGGCTCAGCAGCTGTGAG	0.527																																						ENST00000338662.5																			0				kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						c.(109-111)Ctg>Ttg		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)							120.0	97.0	105.0					12																	54063711		2203	4300	6503	SO:0001819	synonymous_variant	517				ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding	g.chr12:54063711G>A	X69908	CCDS8863.2, CCDS31812.1	12q13.13	2012-10-12	2010-06-11		ENSG00000135390	ENSG00000135390		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	842	protein-coding gene	gene with protein product		603193	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 2"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9)"""			8328972	Standard	NM_005176		Approved		uc001sec.3	Q06055	OTTHUMG00000133442	ENST00000549164.1:c.61C>T	12.37:g.54063711G>A			Somatic				ATP5G2_ENST00000602871.1_Silent_p.L21L|ATP5G2_ENST00000549164.1_Silent_p.L21L|ATP5G2_ENST00000394349.3_Silent_p.L78L	p.L37L	NM_001002031.2	NP_001002031.1	WXS	Illumina GAIIx	Phase_I	Q06055	AT5G2_HUMAN			3	1314	-			21					B3KQQ6	Silent	SNP	ENST00000549164.1	37	c.109C>T																																																																																					0.527	ATP5G2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000407403.1	NM_005176		5	226	0	0	0	1	0	5	226				
PIGM	93183	broad.mit.edu	37	1	160000335	160000335	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:160000335T>A	ENST00000368090.2	-	1	1448	c.1195A>T	c.(1195-1197)Atc>Ttc	p.I399F		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	399					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAACAATTGATAAGAAGAAAG	0.403																																						ENST00000368090.2																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17						c.(1195-1197)Atc>Ttc		phosphatidylinositol glycan anchor biosynthesis, class M							116.0	118.0	117.0					1																	160000335		2203	4300	6503	SO:0001583	missense	93183				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane		g.chr1:160000335T>A	AB028127	CCDS1192.1	1q23.2	2013-02-26	2006-06-28		ENSG00000143315	ENSG00000143315		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	18858	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 1"", ""DPM:GlcN-(acyl-)PI mannosyltransferase"", ""dol-P-Man dependent GPI mannosyltransferase"""	610273	"""phosphatidylinositol glycan, class M"""			11226175	Standard	NM_145167		Approved	GPI-MT-I	uc001fuv.1	Q9H3S5	OTTHUMG00000024081	ENST00000368090.2:c.1195A>T	1.37:g.160000335T>A	ENSP00000357069:p.Ile399Phe		Somatic					p.I399F	NM_145167.2	NP_660150.1	WXS	Illumina GAIIx	Phase_I	Q9H3S5	PIGM_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		1	1448	-	all_hematologic(112;0.093)		399						Missense_Mutation	SNP	ENST00000368090.2	37	c.1195A>T	CCDS1192.1	.	.	.	.	.	.	.	.	.	.	T	11.48	1.650014	0.29336	.	.	ENSG00000143315	ENST00000368090	T	0.44482	0.92	5.3	3.03	0.35002	.	0.119638	0.56097	D	0.000033	T	0.21387	0.0515	M	0.64997	1.995	0.51767	D	0.999936	B	0.25048	0.117	B	0.32211	0.142	T	0.05370	-1.0889	9	.	.	.	-18.4821	5.909	0.19016	0.0:0.2021:0.0:0.7979	.	399	Q9H3S5	PIGM_HUMAN	F	399	ENSP00000357069:I399F	.	I	-	1	0	PIGM	158266959	0.986000	0.35501	0.931000	0.37212	0.540000	0.34992	1.829000	0.39121	0.857000	0.35407	0.379000	0.24179	ATC		0.403	PIGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060643.2	NM_145167		7	215	0	0	0	1	0	7	215				
TEX11	56159	broad.mit.edu	37	X	69849587	69849587	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chrX:69849587T>A	ENST00000395889.2	-	19	1684		c.e19-2		TEX11_ENST00000374333.2_Splice_Site|TEX11_ENST00000374320.2_Splice_Site|TEX11_ENST00000344304.3_Splice_Site	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11						chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					CCTGCAAAGCTGAAAAACAAG	0.289																																						ENST00000395889.2																			0				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48						c.e19-2		testis expressed 11							53.0	49.0	50.0					X																	69849587		2203	4300	6503	SO:0001630	splice_region_variant	56159						protein binding	g.chrX:69849587T>A	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1529-2A>T	X.37:g.69849587T>A			Somatic				TEX11_ENST00000374320.2_Splice_Site|TEX11_ENST00000344304.3_Splice_Site|TEX11_ENST00000374333.2_Splice_Site		NM_001003811.1	NP_001003811.1	WXS	Illumina GAIIx	Phase_I	Q8IYF3	TEX11_HUMAN			19	1684	-	Renal(35;0.156)							A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Splice_Site	SNP	ENST00000395889.2	37		CCDS35323.1	.	.	.	.	.	.	.	.	.	.	T	9.598	1.127848	0.20959	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	.	.	.	3.77	2.56	0.30785	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6676	0.17704	0.2445:0.0:0.0:0.7555	.	.	.	.	.	-1	.	.	.	-	.	.	TEX11	69766312	1.000000	0.71417	0.814000	0.32528	0.032000	0.12392	3.547000	0.53663	0.453000	0.26858	-0.583000	0.04132	.		0.289	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1		Intron	3	27	0	0	0	1	0	3	27				
UBQLNL	143630	broad.mit.edu	37	11	5536862	5536862	+	Silent	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr11:5536862C>T	ENST00000380184.1	-	1	1073	c.810G>A	c.(808-810)ctG>ctA	p.L270L	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	270								p.L270L(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		AGTTCTGACCCAGGGCATTAT	0.463																																						ENST00000380184.1																			1	Substitution - coding silent(1)	p.L270L(1)	kidney(1)	endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(808-810)ctG>ctA		ubiquilin-like							90.0	84.0	86.0					11																	5536862		2201	4297	6498	SO:0001819	synonymous_variant	143630							g.chr11:5536862C>T	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.810G>A	11.37:g.5536862C>T			Somatic				HBG2_ENST00000380259.2_Intron	p.L270L	NM_145053.4	NP_659490.4	WXS	Illumina GAIIx	Phase_I	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	1073	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	270					Q6ZRU1|Q96EK3|Q96MB0	Silent	SNP	ENST00000380184.1	37	c.810G>A	CCDS31385.1																																																																																				0.463	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		11	185	0	0	0	1	0	11	185				
CCNA1	8900	broad.mit.edu	37	13	37015253	37015253	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr13:37015253A>T	ENST00000255465.4	+	7	1362		c.e7-1		CCNA1_ENST00000440264.1_Splice_Site|CCNA1_ENST00000418263.1_Splice_Site|CCNA1_ENST00000449823.1_Splice_Site			P78396	CCNA1_HUMAN	cyclin A1						G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TCTTGTGCTTAGTACGTAGCA	0.393																																						ENST00000418263.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35						c.e7-1		cyclin A1							126.0	105.0	112.0					13																	37015253		2203	4300	6503	SO:0001630	splice_region_variant	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37015253A>T	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.1099-1A>T	13.37:g.37015253A>T			Somatic				CCNA1_ENST00000449823.1_Splice_Site|CCNA1_ENST00000255465.4_Splice_Site|CCNA1_ENST00000440264.1_Splice_Site		NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	WXS	Illumina GAIIx	Phase_I	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	7	1445	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)						B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Splice_Site	SNP	ENST00000255465.4	37		CCDS9357.1	.	.	.	.	.	.	.	.	.	.	A	19.75	3.886322	0.72410	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3319	0.74219	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCNA1	35913253	1.000000	0.71417	0.988000	0.46212	0.833000	0.47200	8.941000	0.92964	2.076000	0.62316	0.460000	0.39030	.		0.393	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914	Intron	4	100	0	0	0	1	0	4	100				
SUGCT	79783	broad.mit.edu	37	7	40277232	40277232	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr7:40277232A>T	ENST00000335693.4	+	7	528		c.e7-1		C7orf10_ENST00000309930.5_Splice_Site|C7orf10_ENST00000401647.2_Splice_Site	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN							metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TTGTTGTTTTAGGGTATGGTC	0.443																																						ENST00000309930.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						c.e7-1		chromosome 7 open reading frame 10							179.0	169.0	172.0					7																	40277232		1948	4142	6090	SO:0001630	splice_region_variant	79783						transferase activity	g.chr7:40277232A>T																												ENST00000335693.4:c.506-1A>T	7.37:g.40277232A>T			Somatic				C7orf10_ENST00000335693.4_Splice_Site|C7orf10_ENST00000401647.2_Splice_Site		NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	WXS	Illumina GAIIx	Phase_I	Q9HAC7	CG010_HUMAN			7	529	+								A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Splice_Site	SNP	ENST00000335693.4	37		CCDS55105.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.155321	0.78114	.	.	ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693;ENST00000416370	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2893	0.73854	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C7orf10	40243757	1.000000	0.71417	0.994000	0.49952	0.944000	0.59088	5.919000	0.70005	2.159000	0.67721	0.533000	0.62120	.		0.443	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1		Intron	4	165	0	0	0	1	0	4	165				
GPANK1	7918	broad.mit.edu	37	6	31632107	31632107	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr6:31632107T>C	ENST00000375906.1	-	3	833	c.149A>G	c.(148-150)gAt>gGt	p.D50G	CSNK2B_ENST00000375866.2_5'Flank|CSNK2B_ENST00000375885.4_5'Flank|GPANK1_ENST00000375895.2_Missense_Mutation_p.D50G|CSNK2B_ENST00000375865.2_5'Flank|GPANK1_ENST00000375900.4_Missense_Mutation_p.D50G|GPANK1_ENST00000375893.2_Missense_Mutation_p.D50G|CSNK2B_ENST00000375882.2_5'Flank|GPANK1_ENST00000375896.4_Missense_Mutation_p.D50G|Y_RNA_ENST00000364337.1_RNA|CSNK2B-LY6G5B-1181_ENST00000375880.2_5'Flank	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	50							nucleic acid binding (GO:0003676)	p.D50G(1)		central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						GCTGCTCTCATCCCCAATCAG	0.557																																						ENST00000375906.1																			1	Substitution - Missense(1)	p.D50G(1)	kidney(1)	central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						c.(148-150)gAt>gGt		G patch domain and ankyrin repeats 1							49.0	53.0	52.0					6																	31632107		2203	4300	6503	SO:0001583	missense	7918					intracellular	nucleic acid binding	g.chr6:31632107T>C		CCDS4711.1	6p21.3	2013-01-28	2010-11-24	2010-11-24	ENSG00000204438	ENSG00000204438		"""Ankyrin repeat domain containing"", ""G patch domain containing"""	13920	protein-coding gene	gene with protein product	"""G patch domain containing 10"", ""ankyrin repeat domain 59"""	142610	"""HLA-B associated transcript 4"""	BAT4		2911734, 2813433	Standard	NM_001199237		Approved	G5, D6S54E, GPATCH10, ANKRD59	uc021yuu.1	O95872	OTTHUMG00000031174	ENST00000375906.1:c.149A>G	6.37:g.31632107T>C	ENSP00000365071:p.Asp50Gly		Somatic				GPANK1_ENST00000375893.2_Missense_Mutation_p.D50G|GPANK1_ENST00000375895.2_Missense_Mutation_p.D50G|GPANK1_ENST00000375896.4_Missense_Mutation_p.D50G|GPANK1_ENST00000375900.4_Missense_Mutation_p.D50G	p.D50G	NM_001199237.1	NP_001186166.1	WXS	Illumina GAIIx	Phase_I	O95872	GPAN1_HUMAN			3	833	-			50					A6NG25|B0UXA2|Q5SQ49	Missense_Mutation	SNP	ENST00000375906.1	37	c.149A>G	CCDS4711.1	.	.	.	.	.	.	.	.	.	.	T	11.11	1.541956	0.27563	.	.	ENSG00000204438	ENST00000375906;ENST00000375896;ENST00000375893;ENST00000375895;ENST00000375900;ENST00000440842;ENST00000458083;ENST00000445768;ENST00000432291;ENST00000456540	T;T;T;T;T;T;T;T	0.53206	3.05;3.05;3.05;3.05;3.05;1.39;1.39;0.63	4.94	-2.59	0.06209	.	1.181720	0.05945	N	0.637746	T	0.12347	0.0300	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23583	-1.0184	10	0.34782	T	0.22	-0.8462	3.359	0.07179	0.1463:0.4892:0.1496:0.2149	.	50	O95872	GPAN1_HUMAN	G	50	ENSP00000365071:D50G;ENSP00000365060:D50G;ENSP00000365057:D50G;ENSP00000365059:D50G;ENSP00000365065:D50G;ENSP00000395307:D50G;ENSP00000409349:D50G;ENSP00000395484:D50G	ENSP00000365057:D50G	D	-	2	0	GPANK1	31740086	0.000000	0.05858	0.001000	0.08648	0.599000	0.36880	0.163000	0.16520	-0.046000	0.13446	-0.366000	0.07423	GAT		0.557	GPANK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144445.2	NM_033177		22	43	0	0	0	1	0	22	43				
RCOR2	283248	broad.mit.edu	37	11	63679957	63679957	+	Silent	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr11:63679957C>T	ENST00000301459.4	-	11	1464	c.1077G>A	c.(1075-1077)ggG>ggA	p.G359G	RCOR2_ENST00000473926.2_5'Flank	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	359	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.G359G(1)		kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						GAGTCTTGTTCCCAATCACCT	0.542																																						ENST00000301459.4																			1	Substitution - coding silent(1)	p.G359G(1)	kidney(1)	kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						c.(1075-1077)ggG>ggA		REST corepressor 2							73.0	86.0	81.0					11																	63679957		2200	4297	6497	SO:0001819	synonymous_variant	283248				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr11:63679957C>T	BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472	ENST00000301459.4:c.1077G>A	11.37:g.63679957C>T			Somatic					p.G359G	NM_173587.3	NP_775858.2	WXS	Illumina GAIIx	Phase_I	Q8IZ40	RCOR2_HUMAN			11	1464	-			359			SANT 2.		Q96FP3	Silent	SNP	ENST00000301459.4	37	c.1077G>A	CCDS8052.1																																																																																				0.542	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318233.1	NM_173587		4	79	0	0	0	1	0	4	79				
TCAP	8557	broad.mit.edu	37	17	37821618	37821618	+	Silent	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr17:37821618T>A	ENST00000309889.2	+	1	1179	c.6T>A	c.(4-6)gcT>gcA	p.A2A	TCAP_ENST00000578283.1_Silent_p.A2A|PNMT_ENST00000394246.1_5'Flank|PNMT_ENST00000269582.2_5'Flank			O15273	TELT_HUMAN	titin-cap	2					adult heart development (GO:0007512)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of mechanical stimulus (GO:0050982)|detection of muscle stretch (GO:0035995)|muscle filament sliding (GO:0030049)|otic vesicle formation (GO:0030916)|protein complex assembly (GO:0006461)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle contraction (GO:0003009)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)	cytosol (GO:0005829)|I band (GO:0031674)|Z disc (GO:0030018)	FATZ binding (GO:0051373)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.A2A(1)		kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGATCATGGCTACCTCAGAGC	0.602																																						ENST00000309889.2																			1	Substitution - coding silent(1)	p.A2A(1)	kidney(1)	kidney(1)|lung(1)	2						c.(4-6)gcT>gcA		titin-cap							97.0	100.0	99.0					17																	37821618		2203	4300	6503	SO:0001819	synonymous_variant	8557				adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	cytosol|Z disc	structural constituent of muscle|titin binding|titin Z domain binding	g.chr17:37821618T>A	AJ000491	CCDS11342.1	17q12	2014-09-17	2012-09-20		ENSG00000173991	ENSG00000173991			11610	protein-coding gene	gene with protein product	"""19 kDa sarcomeric protein"""	604488	"""limb girdle muscular dystrophy 2G (autosomal recessive)"", ""titin-cap (telethonin)"""	LGMD2G		9350988, 9817758	Standard	NM_003673		Approved	T-cap, TELE, telethonin, CMD1N	uc002hsh.3	O15273	OTTHUMG00000133215	ENST00000309889.2:c.6T>A	17.37:g.37821618T>A			Somatic				TCAP_ENST00000578283.1_Silent_p.A2A	p.A2A			WXS	Illumina GAIIx	Phase_I	O15273	TELT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		1	1179	+	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		2					Q96L27	Silent	SNP	ENST00000309889.2	37	c.6T>A	CCDS11342.1																																																																																				0.602	TCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256942.1	NM_003673		11	17	0	0	0	1	0	11	17				
APOB	338	broad.mit.edu	37	2	21231258	21231258	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:21231258C>G	ENST00000233242.1	-	26	8609	c.8482G>C	c.(8482-8484)Gtg>Ctg	p.V2828L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2828					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGAACTTCACTGACTCCTTC	0.413																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(8482-8484)Gtg>Ctg		apolipoprotein B	Atorvastatin(DB01076)						116.0	120.0	119.0					2																	21231258		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231258C>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8482G>C	2.37:g.21231258C>G	ENSP00000233242:p.Val2828Leu		Somatic					p.V2828L	NM_000384.2	NP_000375.2	WXS	Illumina GAIIx	Phase_I	P04114	APOB_HUMAN			26	8609	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2828					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.8482G>C	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.646619	0.00792	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00635	6.06	5.36	-10.7	0.00240	.	0.902182	0.09352	N	0.814029	T	0.00637	0.0021	L	0.56769	1.78	0.20196	N	0.999925	B	0.12630	0.006	B	0.12156	0.007	T	0.43032	-0.9416	10	0.13470	T	0.59	.	9.4118	0.38496	0.0659:0.2783:0.0697:0.5862	.	2828	P04114	APOB_HUMAN	L	2828	ENSP00000233242:V2828L	ENSP00000233242:V2828L	V	-	1	0	APOB	21084763	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.137000	0.00588	-2.387000	0.00589	-0.266000	0.10368	GTG		0.413	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			8	348	0	0	0	1	0	8	348				
FBXO7	25793	broad.mit.edu	37	22	32879882	32879882	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr22:32879882A>T	ENST00000266087.7	+	3	744		c.e3-1		FBXO7_ENST00000397426.1_Splice_Site|FBXO7_ENST00000382058.3_Splice_Site	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7						cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCCTTTTTCAGTTAGGGCCT	0.353																																						ENST00000266087.7																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.e3-1		F-box protein 7							64.0	65.0	64.0					22																	32879882		2203	4300	6503	SO:0001630	splice_region_variant	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32879882A>T	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.418-1A>T	22.37:g.32879882A>T			Somatic				FBXO7_ENST00000382058.3_Splice_Site|FBXO7_ENST00000397426.1_Splice_Site		NM_012179.3	NP_036311.3	WXS	Illumina GAIIx	Phase_I	Q9Y3I1	FBX7_HUMAN			3	744	+								B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Splice_Site	SNP	ENST00000266087.7	37		CCDS13907.1	.	.	.	.	.	.	.	.	.	.	A	19.58	3.854895	0.71719	.	.	ENSG00000100225	ENST00000266087;ENST00000452138;ENST00000382058;ENST00000397426;ENST00000444207	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5387	0.67979	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FBXO7	31209882	1.000000	0.71417	0.940000	0.37924	0.950000	0.60333	6.046000	0.71029	2.174000	0.68829	0.528000	0.53228	.		0.353	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1		Intron	4	105	0	0	0	1	0	4	105				
NME7	29922	broad.mit.edu	37	1	169256604	169256604	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:169256604C>T	ENST00000367811.3	-	7	947	c.691G>A	c.(691-693)Gca>Aca	p.A231T	NME7_ENST00000469474.1_5'UTR|NME7_ENST00000472647.1_Missense_Mutation_p.A195T	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	231					brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)	p.A231T(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					GCAGTGTTTGCCGGCCCACAA	0.358																																						ENST00000367811.3																			1	Substitution - Missense(1)	p.A231T(1)	kidney(1)	central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16						c.(691-693)Gca>Aca		NME/NM23 family member 7							220.0	216.0	217.0					1																	169256604		2203	4300	6503	SO:0001583	missense	29922				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	g.chr1:169256604C>T	AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 67"""	613465	"""non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"""			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.691G>A	1.37:g.169256604C>T	ENSP00000356785:p.Ala231Thr		Somatic				NME7_ENST00000469474.1_5'UTR|NME7_ENST00000472647.1_Missense_Mutation_p.A195T	p.A231T	NM_013330.3	NP_037462.1	WXS	Illumina GAIIx	Phase_I	Q9Y5B8	NDK7_HUMAN			7	947	-	all_hematologic(923;0.208)		231					A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Missense_Mutation	SNP	ENST00000367811.3	37	c.691G>A	CCDS1277.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961854	0.34659	.	.	ENSG00000143156	ENST00000472647;ENST00000367811	T;T	0.55413	0.52;0.52	4.57	3.65	0.41850	.	0.526155	0.22030	N	0.065617	T	0.15565	0.0375	L	0.27053	0.805	0.29275	N	0.870411	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.001	T	0.09378	-1.0677	9	0.14252	T	0.57	-11.2605	7.7247	0.28753	0.0:0.8061:0.0:0.1939	.	235;231	Q59GR0;Q9Y5B8	.;NDK7_HUMAN	T	195;231	ENSP00000433341:A195T;ENSP00000356785:A231T	ENSP00000356785:A231T	A	-	1	0	NME7	167523228	0.999000	0.42202	0.998000	0.56505	0.981000	0.71138	1.468000	0.35332	0.914000	0.36822	0.637000	0.83480	GCA		0.358	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083688.1	NM_013330		6	610	0	0	0	1	0	6	610				
PGK1	5230	broad.mit.edu	37	X	77380396	77380396	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chrX:77380396G>A	ENST00000373316.4	+	9	1129	c.962G>A	c.(961-963)aGc>aAc	p.S321N	PGK1_ENST00000442431.1_Missense_Mutation_p.S185N|PGK1_ENST00000537456.1_Missense_Mutation_p.S293N	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	321					carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)	p.S321N(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	CCTGAAAGCAGCAAGAAGTAT	0.502																																						ENST00000373316.4																			1	Substitution - Missense(1)	p.S321N(1)	kidney(1)	breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(961-963)aGc>aAc		phosphoglycerate kinase 1							124.0	121.0	122.0					X																	77380396		2203	4296	6499	SO:0001583	missense	5230				gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chrX:77380396G>A	L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.962G>A	X.37:g.77380396G>A	ENSP00000362413:p.Ser321Asn		Somatic				PGK1_ENST00000537456.1_Missense_Mutation_p.S293N|PGK1_ENST00000442431.1_Missense_Mutation_p.S185N	p.S321N	NM_000291.3	NP_000282.1	WXS	Illumina GAIIx	Phase_I	P00558	PGK1_HUMAN			9	1129	+			321					A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Missense_Mutation	SNP	ENST00000373316.4	37	c.962G>A	CCDS14438.1	.	.	.	.	.	.	.	.	.	.	G	7.592	0.670976	0.14776	.	.	ENSG00000102144	ENST00000373316;ENST00000442431;ENST00000450919;ENST00000537456	D;D;D	0.91945	-2.94;-2.94;-2.94	5.0	4.13	0.48395	Phosphoglycerate kinase, C-terminal (1);	0.319059	0.38164	N	0.001783	T	0.81498	0.4835	N	0.17594	0.5	0.24273	N	0.995231	B	0.02656	0.0	B	0.04013	0.001	T	0.64257	-0.6450	10	0.13470	T	0.59	-25.0944	6.4138	0.21705	0.0937:0.0:0.6195:0.2868	.	321	P00558	PGK1_HUMAN	N	321;185;146;293	ENSP00000362413:S321N;ENSP00000405452:S185N;ENSP00000444708:S293N	ENSP00000362413:S321N	S	+	2	0	PGK1	77267052	0.994000	0.37717	1.000000	0.80357	0.993000	0.82548	1.406000	0.34646	0.990000	0.38787	0.513000	0.50165	AGC		0.502	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057310.1			44	494	0	0	0	1	0	44	494				
TMEM132A	54972	broad.mit.edu	37	11	60701064	60701064	+	Silent	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr11:60701064C>A	ENST00000453848.2	+	8	1565	c.1407C>A	c.(1405-1407)ggC>ggA	p.G469G	TMEM132A_ENST00000005286.4_Silent_p.G470G			Q24JP5	T132A_HUMAN	transmembrane protein 132A	469						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.G470G(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						AGAGCCGGGGCGCCCGGGGGG	0.692																																						ENST00000005286.4																			2	Substitution - coding silent(2)	p.G470G(2)	kidney(2)	breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.(1408-1410)ggC>ggA		transmembrane protein 132A							17.0	25.0	22.0					11																	60701064		2194	4290	6484	SO:0001819	synonymous_variant	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60701064C>A	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.1407C>A	11.37:g.60701064C>A			Somatic				TMEM132A_ENST00000453848.2_Silent_p.G469G	p.G470G	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	WXS	Illumina GAIIx	Phase_I	Q24JP5	T132A_HUMAN			8	1563	+			469					Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Silent	SNP	ENST00000453848.2	37	c.1410C>A	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	C	0.374	-0.932586	0.02359	.	.	ENSG00000006118	ENST00000536409	.	.	.	4.75	-9.5	0.00584	.	.	.	.	.	T	0.31888	0.0811	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46062	-0.9218	4	.	.	.	.	0.4611	0.00516	0.3682:0.1886:0.149:0.2941	.	.	.	.	S	61	.	.	R	+	1	0	TMEM132A	60457640	0.000000	0.05858	0.010000	0.14722	0.058000	0.15608	-4.824000	0.00181	-3.555000	0.00142	-1.683000	0.00735	CGC		0.692	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		7	7	1	0	0.00448238	1	0.00457898	7	7				
GRIN3B	116444	broad.mit.edu	37	19	1004979	1004979	+	Silent	SNP	C	C	T	rs369027881		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr19:1004979C>T	ENST00000234389.3	+	3	1498	c.1479C>T	c.(1477-1479)ttC>ttT	p.F493F	AC004528.4_ENST00000588380.1_RNA|GRIN3B_ENST00000588335.1_3'UTR	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	493					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)	p.F493F(1)		breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACACGCCCTTCGACTTCGAGC	0.721																																						ENST00000234389.3																			1	Substitution - coding silent(1)	p.F493F(1)	kidney(1)	breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(1477-1479)ttC>ttT		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	C		0,4404		0,0,2202	27.0	28.0	28.0		1479	-1.0	1.0	19		28	1,8593		0,1,4296	no	coding-synonymous	GRIN3B	NM_138690.1		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		493/1044	1004979	1,12997	2202	4297	6499	SO:0001819	synonymous_variant	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1004979C>T		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1479C>T	19.37:g.1004979C>T			Somatic				GRIN3B_ENST00000588335.1_3'UTR	p.F493F	NM_138690.1	NP_619635.1	WXS	Illumina GAIIx	Phase_I	O60391	NMD3B_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)	3	1498	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	493					Q5EAK7|Q7RTW9	Silent	SNP	ENST00000234389.3	37	c.1479C>T	CCDS32861.1																																																																																				0.721	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			6	34	0	0	0	1	0	6	34				
PCDHGC3	5098	broad.mit.edu	37	5	140855726	140855726	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr5:140855726A>G	ENST00000308177.3	+	1	147	c.43A>G	c.(43-45)Agg>Ggg	p.R15G	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	15					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCACCGGGAGGGTAGTGGG	0.562																																						ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(43-45)Agg>Ggg									126.0	138.0	134.0					5																	140855726		2203	4300	6503	SO:0001583	missense	5098							g.chr5:140855726A>G	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.43A>G	5.37:g.140855726A>G	ENSP00000312070:p.Arg15Gly		Somatic				PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron	p.R15G	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	147	+								O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	37	c.43A>G	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	A	12.34	1.907611	0.33721	.	.	ENSG00000240184	ENST00000308177	T	0.50001	0.76	6.17	5.03	0.67393	.	.	.	.	.	T	0.32823	0.0842	N	0.19112	0.55	0.23277	N	0.998	B;B	0.19200	0.006;0.034	B;B	0.24394	0.014;0.053	T	0.11665	-1.0578	9	0.49607	T	0.09	.	7.2013	0.25883	0.6505:0.2716:0.0779:0.0	.	15;15	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	G	15	ENSP00000312070:R15G	ENSP00000312070:R15G	R	+	1	2	PCDHGC3	140835910	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.918000	0.40006	2.371000	0.80710	0.533000	0.62120	AGG		0.562	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		4	323	0	0	0	1	0	4	323				
GFPT2	9945	broad.mit.edu	37	5	179743456	179743456	+	Silent	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr5:179743456C>T	ENST00000253778.8	-	13	1327	c.1158G>A	c.(1156-1158)cgG>cgA	p.R386R	GFPT2_ENST00000520165.1_5'Flank	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	386	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CCAAAACTTGCCGCGTCTGAA	0.507																																						ENST00000253778.8																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(1156-1158)cgG>cgA		glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)						81.0	79.0	80.0					5																	179743456		2045	4213	6258	SO:0001819	synonymous_variant	9945				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr5:179743456C>T	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1158G>A	5.37:g.179743456C>T			Somatic					p.R386R	NM_005110.2	NP_005101.1	WXS	Illumina GAIIx	Phase_I	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1327	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	386			SIS 1.		Q53XM2|Q9BWS4	Silent	SNP	ENST00000253778.8	37	c.1158G>A	CCDS43411.1																																																																																				0.507	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110		4	185	0	0	0	1	0	4	185				
NPAS3	64067	broad.mit.edu	37	14	33836390	33836390	+	Splice_Site	SNP	A	A	T	rs202236525		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr14:33836390A>T	ENST00000356141.4	+	4	385		c.e4-1		NPAS3_ENST00000551492.1_Intron|NPAS3_ENST00000346562.2_Intron|NPAS3_ENST00000548645.1_Splice_Site|NPAS3_ENST00000341321.4_Splice_Site|NPAS3_ENST00000551008.1_Splice_Site|NPAS3_ENST00000357798.5_Splice_Site|NPAS3_ENST00000547068.1_Intron			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3						locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TTTTCTTTTAAGTTATAGGTG	0.368																																						ENST00000548645.1																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.e3-1		neuronal PAS domain protein 3							40.0	40.0	40.0					14																	33836390		2203	4300	6503	SO:0001630	splice_region_variant	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:33836390A>T	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.386-1A>T	14.37:g.33836390A>T			Somatic				NPAS3_ENST00000551492.1_Intron|NPAS3_ENST00000551008.1_Splice_Site|NPAS3_ENST00000547068.1_Intron|NPAS3_ENST00000357798.5_Splice_Site|NPAS3_ENST00000356141.4_Splice_Site|NPAS3_ENST00000346562.2_Intron|NPAS3_ENST00000341321.4_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	3	340	+	Breast(36;0.0102)|Hepatocellular(127;0.133)							Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Splice_Site	SNP	ENST00000356141.4	37		CCDS53891.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.008521	0.75046	.	.	ENSG00000151322	ENST00000551634;ENST00000341321;ENST00000548645;ENST00000356141;ENST00000357798;ENST00000551008;ENST00000546849	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6625	0.77199	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NPAS3	32906141	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.499000	0.81566	2.107000	0.64212	0.533000	0.62120	.		0.368	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1		Intron	3	30	0	0	0	1	0	3	30				
TVP23C	201158	broad.mit.edu	37	17	15449215	15449215	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr17:15449215T>A	ENST00000225576.3	-	5	441	c.346A>T	c.(346-348)Aat>Tat	p.N116Y	TVP23C_ENST00000438826.3_Missense_Mutation_p.N116Y|TVP23C_ENST00000584811.1_Missense_Mutation_p.N52Y|TVP23C_ENST00000519970.1_Missense_Mutation_p.N30Y|TVP23C_ENST00000518321.1_Missense_Mutation_p.N116Y|TVP23C_ENST00000428082.2_Missense_Mutation_p.N116Y|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.N116Y	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	116						integral component of membrane (GO:0016021)		p.N116Y(2)									ACAGTTTTATTCTCTTGAGAG	0.323																																						ENST00000584811.1																			2	Substitution - Missense(2)	p.N116Y(2)	kidney(2)								c.(154-156)Aat>Tat		trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							101.0	100.0	101.0					17																	15449215		2203	4297	6500	SO:0001583	missense	201158							g.chr17:15449215T>A	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.346A>T	17.37:g.15449215T>A	ENSP00000225576:p.Asn116Tyr		Somatic				TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.N116Y|TVP23C_ENST00000428082.2_Missense_Mutation_p.N116Y|TVP23C_ENST00000438826.3_Missense_Mutation_p.N116Y|TVP23C_ENST00000519970.1_Missense_Mutation_p.N30Y|TVP23C_ENST00000518321.1_Missense_Mutation_p.N116Y|TVP23C_ENST00000225576.3_Missense_Mutation_p.N116Y	p.N52Y			WXS	Illumina GAIIx	Phase_I					5	1569	-								Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	c.154A>T	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	8.538	0.872660	0.17322	.	.	ENSG00000259024;ENSG00000259024;ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000557349;ENST00000481756;ENST00000519970;ENST00000225576;ENST00000428082;ENST00000438826;ENST00000419890	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	5.05	2.82	0.32997	.	0.657654	0.15767	N	0.245641	T	0.55194	0.1905	M	0.68317	2.08	0.09310	N	0.999999	B;P;B;P	0.51791	0.178;0.948;0.122;0.473	B;P;B;P	0.59595	0.091;0.86;0.096;0.532	T	0.44907	-0.9297	10	0.72032	D	0.01	.	8.7142	0.34401	0.0:0.1612:0.0:0.8388	.	116;30;116;116	Q96ET8-2;B4E0Q0;Q96ET8-3;Q96ET8	.;.;.;F18B2_HUMAN	Y	116;30;30;30;116;116;116;52	ENSP00000429865:N116Y;ENSP00000428961:N30Y;ENSP00000225576:N116Y;ENSP00000406387:N116Y;ENSP00000413355:N116Y;ENSP00000409988:N52Y	ENSP00000225576:N116Y	N	-	1	0	RP11-726O12.1;FAM18B2	15389940	0.427000	0.25514	0.003000	0.11579	0.227000	0.25037	2.274000	0.43390	0.348000	0.23949	0.528000	0.53228	AAT		0.323	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		14	53	0	0	0	1	0	14	53				
C1orf168	199920	broad.mit.edu	37	1	57258476	57258476	+	Splice_Site	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:57258476C>A	ENST00000343433.6	-	2	90	c.10G>T	c.(10-12)Gaa>Taa	p.E4*	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	4								p.E4*(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CTTACCCCTTCCTAAGGCAAA	0.353																																						ENST00000343433.6																			1	Substitution - Nonsense(1)	p.E4*(1)	kidney(1)	NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						c.e2-1		chromosome 1 open reading frame 168							86.0	92.0	90.0					1																	57258476		2202	4290	6492	SO:0001630	splice_region_variant	199920							g.chr1:57258476C>A	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.10-1G>T	1.37:g.57258476C>A			Somatic				C1orf168_ENST00000484327.1_5'UTR	p.E4_splice	NM_001004303.4	NP_001004303.3	WXS	Illumina GAIIx	Phase_I	Q5VWT5	CA168_HUMAN			2	90	-			4					Q63HM3|Q6ZUY6	Splice_Site	SNP	ENST00000343433.6	37	c.9_splice	CCDS30729.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400431	0.83120	.	.	ENSG00000187889	ENST00000343433	.	.	.	4.65	3.74	0.42951	.	0.099220	0.43416	D	0.000562	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-16.547	8.8314	0.35087	0.0:0.8977:0.0:0.1023	.	.	.	.	X	4	.	ENSP00000345972:E4X	E	-	1	0	C1orf168	57031064	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	2.133000	0.42093	1.318000	0.45170	-0.253000	0.11424	GAA		0.353	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303	Nonsense_Mutation	40	307	1	0	4.53413e-08	1	4.92931e-08	40	307				
WDR47	22911	broad.mit.edu	37	1	109554267	109554267	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:109554267T>C	ENST00000369962.3	-	5	623	c.401A>G	c.(400-402)tAt>tGt	p.Y134C	WDR47_ENST00000361054.3_Missense_Mutation_p.Y106C|WDR47_ENST00000369965.4_Missense_Mutation_p.Y134C|WDR47_ENST00000400794.3_Missense_Mutation_p.Y141C|WDR47_ENST00000357672.3_Missense_Mutation_p.Y106C			O94967	WDR47_HUMAN	WD repeat domain 47	134					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.Y134C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		GAGCTTACTATAGTCATCTTT	0.398																																						ENST00000357672.3																			1	Substitution - Missense(1)	p.Y134C(1)	kidney(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(316-318)tAt>tGt		WD repeat domain 47							131.0	131.0	131.0					1																	109554267		2203	4296	6499	SO:0001583	missense	22911							g.chr1:109554267T>C	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.401A>G	1.37:g.109554267T>C	ENSP00000358979:p.Tyr134Cys		Somatic				WDR47_ENST00000400794.3_Missense_Mutation_p.Y141C|WDR47_ENST00000369962.3_Missense_Mutation_p.Y134C|WDR47_ENST00000369965.4_Missense_Mutation_p.Y134C|WDR47_ENST00000361054.3_Missense_Mutation_p.Y106C	p.Y106C			WXS	Illumina GAIIx	Phase_I	O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	4	692	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	134					A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	c.317A>G	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	T	18.45	3.627740	0.66901	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672;ENST00000530772;ENST00000529074;ENST00000531337	T;T;T;T;T	0.76060	-0.81;-0.77;-0.99;-0.81;-0.99	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.81809	0.4901	M	0.69358	2.11	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.986;0.997;0.997	D	0.84745	0.0753	10	0.87932	D	0	-12.7322	15.3075	0.74004	0.0:0.0:0.0:1.0	.	106;141;134;134	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	C	141;134;106;134;106;134;61;34	ENSP00000383599:Y141C;ENSP00000358979:Y134C;ENSP00000354339:Y106C;ENSP00000358982:Y134C;ENSP00000350301:Y106C	ENSP00000350301:Y106C	Y	-	2	0	WDR47	109355790	1.000000	0.71417	0.978000	0.43139	0.975000	0.68041	7.673000	0.83973	2.008000	0.58898	0.460000	0.39030	TAT		0.398	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		17	213	0	0	0	1	0	17	213				
DDX52	11056	broad.mit.edu	37	17	35986146	35986146	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr17:35986146T>A	ENST00000349699.2	-	8	976		c.e8-2		DDX52_ENST00000394367.3_Splice_Site	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52							membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				CACTCAACACTAAGAAATAAC	0.423																																						ENST00000349699.2																			0				biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17						c.e8-2		DEAD (Asp-Glu-Ala-Asp) box polypeptide 52							47.0	45.0	46.0					17																	35986146		2203	4300	6503	SO:0001630	splice_region_variant	11056					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr17:35986146T>A	AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"""DEAD-boxes"""	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475	ENST00000349699.2:c.933-2A>T	17.37:g.35986146T>A			Somatic				DDX52_ENST00000394367.3_Splice_Site		NM_007010.3	NP_008941.2	WXS	Illumina GAIIx	Phase_I	Q9Y2R4	DDX52_HUMAN			8	976	-		Breast(25;0.00637)|Ovarian(249;0.15)						Q86YG1|Q8N213|Q9NVE0|Q9Y482	Splice_Site	SNP	ENST00000349699.2	37		CCDS11323.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.227007	0.79576	.	.	ENSG00000141141	ENST00000349699;ENST00000394367	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.544	0.68015	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DDX52	33060259	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.474000	0.81024	2.028000	0.59812	0.377000	0.23210	.		0.423	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256795.1	NM_152300	Intron	4	37	0	0	0	1	0	4	37				
CPB2	1361	broad.mit.edu	37	13	46632347	46632347	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr13:46632347A>T	ENST00000181383.4	-	9	982	c.966T>A	c.(964-966)taT>taA	p.Y322*	CPB2-AS1_ENST00000606991.1_RNA|CPB2_ENST00000439329.3_Nonsense_Mutation_p.Y285*|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	322					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		TACTTCGTGTATAGGAATATG	0.338																																						ENST00000181383.4																			0				NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(964-966)taT>taA		carboxypeptidase B2 (plasma)							181.0	171.0	175.0					13																	46632347		2203	4300	6503	SO:0001587	stop_gained	1361				blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr13:46632347A>T	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.966T>A	13.37:g.46632347A>T	ENSP00000181383:p.Tyr322*		Somatic				CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2_ENST00000439329.3_Nonsense_Mutation_p.Y285*|CPB2-AS1_ENST00000606351.1_RNA	p.Y322*	NM_001872.3	NP_001863.3	WXS	Illumina GAIIx	Phase_I	Q96IY4	CBPB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)	9	982	-		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	322					A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Nonsense_Mutation	SNP	ENST00000181383.4	37	c.966T>A	CCDS9401.1	.	.	.	.	.	.	.	.	.	.	A	11.41	1.631208	0.28978	.	.	ENSG00000080618	ENST00000181383;ENST00000439329	.	.	.	5.86	-5.7	0.02421	.	0.048144	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.7748	0.85548	0.318:0.0:0.682:0.0	.	.	.	.	X	322;285	.	ENSP00000181383:Y322X	Y	-	3	2	CPB2	45530348	0.997000	0.39634	0.087000	0.20705	0.233000	0.25261	0.476000	0.22180	-0.840000	0.04206	-0.408000	0.06270	TAT		0.338	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872		5	233	0	0	0	1	0	5	233				
FAM221B	392307	broad.mit.edu	37	9	35825563	35825563	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr9:35825563A>T	ENST00000423537.2	-	2	865	c.596T>A	c.(595-597)cTa>cAa	p.L199Q	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	F221B_HUMAN	family with sequence similarity 221, member B	199										endometrium(2)|kidney(1)|lung(4)	7						CTTCTTGCCTAGTTGGTGTCC	0.502																																						ENST00000423537.2																			0				endometrium(2)|kidney(1)|lung(4)	7						c.(595-597)cTa>cAa		family with sequence similarity 221, member B							183.0	183.0	183.0					9																	35825563		2102	4219	6321	SO:0001583	missense	392307							g.chr9:35825563A>T	BX648702	CCDS43799.1, CCDS43799.2	9p13.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000204930	ENSG00000204930			30762	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 128"""	C9orf128			Standard	NM_001012446		Approved		uc010mlc.2	A6H8Z2	OTTHUMG00000019880	ENST00000423537.2:c.596T>A	9.37:g.35825563A>T	ENSP00000415299:p.Leu199Gln		Somatic				TMEM8B_ENST00000377996.1_Intron	p.L199Q	NM_001012446.3	NP_001012448.2	WXS	Illumina GAIIx	Phase_I	A6H8Z2	CI128_HUMAN			2	865	-			199					Q5TCW2	Missense_Mutation	SNP	ENST00000423537.2	37	c.596T>A	CCDS43799.2	.	.	.	.	.	.	.	.	.	.	a	13.00	2.105474	0.37145	.	.	ENSG00000204930	ENST00000423537;ENST00000377984	T;T	0.18502	2.47;2.21	4.85	-7.2	0.01495	.	1.494830	0.04390	N	0.362254	T	0.16599	0.0399	L	0.27053	0.805	0.09310	N	1	P	0.47677	0.899	P	0.51355	0.667	T	0.29397	-1.0013	10	0.26408	T	0.33	-0.408	10.4289	0.44395	0.2453:0.1358:0.6189:0.0	.	199	A6H8Z2	CI128_HUMAN	Q	199	ENSP00000415299:L199Q;ENSP00000367222:L199Q	ENSP00000367222:L199Q	L	-	2	0	C9orf128	35815563	0.000000	0.05858	0.000000	0.03702	0.709000	0.40893	-2.863000	0.00725	-1.122000	0.02945	-0.471000	0.05019	CTA		0.502	FAM221B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355861.1	NM_001012446		6	486	0	0	0	1	0	6	486				
NHLRC2	374354	broad.mit.edu	37	10	115663284	115663284	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr10:115663284A>T	ENST00000369301.3	+	9	1706		c.e9-1			NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		TTTCTTTTTTAGATTAAAGTT	0.313																																						ENST00000369301.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15						c.e9-1		NHL repeat containing 2							72.0	77.0	75.0					10																	115663284		2199	4295	6494	SO:0001630	splice_region_variant	374354				cell redox homeostasis			g.chr10:115663284A>T	AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.1495-1A>T	10.37:g.115663284A>T			Somatic						NM_198514.3	NP_940916.2	WXS	Illumina GAIIx	Phase_I	Q8NBF2	NHLC2_HUMAN		Epithelial(162;0.017)|all cancers(201;0.0187)	9	1706	+								Q8N1H1|Q8N5A6	Splice_Site	SNP	ENST00000369301.3	37		CCDS7585.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.017436	0.75161	.	.	ENSG00000196865	ENST00000369301	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.711	0.69232	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NHLRC2	115653274	1.000000	0.71417	0.996000	0.52242	0.797000	0.45037	8.914000	0.92735	2.264000	0.75181	0.528000	0.53228	.		0.313	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	NM_198514	Intron	4	65	0	0	0	1	0	4	65				
FSTL1	11167	broad.mit.edu	37	3	120122137	120122137	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr3:120122137G>A	ENST00000295633.3	-	8	1002	c.646C>T	c.(646-648)Caa>Taa	p.Q216*	FSTL1_ENST00000424703.2_Nonsense_Mutation_p.Q181*	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	216	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		AGAAACTCTTGGAAGCTGAGT	0.428																																						ENST00000295633.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20						c.(646-648)Caa>Taa		follistatin-like 1							107.0	108.0	108.0					3																	120122137		2203	4300	6503	SO:0001587	stop_gained	11167				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding	g.chr3:120122137G>A	U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"""EF-hand domain containing"""	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.646C>T	3.37:g.120122137G>A	ENSP00000295633:p.Gln216*		Somatic				FSTL1_ENST00000424703.2_Nonsense_Mutation_p.Q181*	p.Q216*	NM_007085.4	NP_009016.1	WXS	Illumina GAIIx	Phase_I	Q12841	FSTL1_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	8	1002	-			216			EF-hand 2.		A8K523|B4DTT5|D3DN90|Q549Z0	Nonsense_Mutation	SNP	ENST00000295633.3	37	c.646C>T	CCDS2998.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.084130|6.084130	0.97267|0.97267	.|.	.|.	ENSG00000163430|ENSG00000163430	ENST00000480823|ENST00000295633;ENST00000539471;ENST00000424703	.|.	.|.	.|.	6.16|6.16	5.24|5.24	0.73138|0.73138	.|.	.|0.295023	.|0.41396	.|D	.|0.000883	T|.	0.40297|.	0.1111|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.38373|.	-0.9664|.	3|.	.|0.09084	.|T	.|0.74	-19.8642|-19.8642	12.1478|12.1478	0.54034|0.54034	0.0:0.0:0.7603:0.2397|0.0:0.0:0.7603:0.2397	.|.	.|.	.|.	.|.	L|X	3|216;159;181	.|.	.|ENSP00000295633:Q216X	P|Q	-|-	2|1	0|0	FSTL1|FSTL1	121604827|121604827	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.176000|4.176000	0.58269|0.58269	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CCA|CAA		0.428	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355399.1	NM_007085		3	154	0	0	0	1	0	3	154				
CLIP1	6249	broad.mit.edu	37	12	122845616	122845616	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr12:122845616C>A	ENST00000540338.1	-	4	936	c.895G>T	c.(895-897)Gtg>Ttg	p.V299L	CLIP1_ENST00000537178.1_Missense_Mutation_p.V299L|CLIP1_ENST00000358808.2_Missense_Mutation_p.V299L|CLIP1_ENST00000361654.4_Missense_Mutation_p.V299L|CLIP1_ENST00000302528.7_Missense_Mutation_p.V299L|CLIP1_ENST00000545889.1_5'UTR			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	299					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GTCGCCATCACTCGCCTCACT	0.587																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(895-897)Gtg>Ttg		CAP-GLY domain containing linker protein 1							94.0	87.0	90.0					12																	122845616		2203	4300	6503	SO:0001583	missense	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122845616C>A		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.895G>T	12.37:g.122845616C>A	ENSP00000439093:p.Val299Leu		Somatic				CLIP1_ENST00000361654.4_Missense_Mutation_p.V299L|CLIP1_ENST00000302528.7_Missense_Mutation_p.V299L|CLIP1_ENST00000540338.1_Missense_Mutation_p.V299L|CLIP1_ENST00000537178.1_Missense_Mutation_p.V299L|CLIP1_ENST00000545889.1_5'UTR	p.V299L	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	WXS	Illumina GAIIx	Phase_I	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	5	1049	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		299					A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.895G>T	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	7.650	0.682720	0.14907	.	.	ENSG00000130779	ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304;ENST00000537004	T;T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78;-0.78	5.66	5.66	0.87406	Cytoskeleton-associated protein, Gly-rich domain (1);	0.193876	0.46145	D	0.000313	T	0.59335	0.2186	N	0.08118	0	0.37095	D	0.899611	B;B;B;B	0.19445	0.004;0.033;0.036;0.004	B;B;B;B	0.26864	0.016;0.074;0.062;0.018	T	0.58555	-0.7616	10	0.27082	T	0.32	-18.1481	17.9203	0.88964	0.0:1.0:0.0:0.0	.	299;299;299;299	F6VGP8;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	L	299;299;144;299;299;299;299	ENSP00000303585:V299L;ENSP00000351665:V299L;ENSP00000445531:V299L;ENSP00000439093:V299L;ENSP00000437786:V299L;ENSP00000441409:V299L	ENSP00000303585:V299L	V	-	1	0	CLIP1	121411569	0.979000	0.34478	0.998000	0.56505	0.555000	0.35460	2.484000	0.45242	2.665000	0.90641	0.561000	0.74099	GTG		0.587	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		11	91	1	0	0.000566183	1	0.000588533	11	91				
PRAMEF26	645359	broad.mit.edu	37	1	13219469	13219470	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:13219469_13219470insT	ENST00000423177.1	-	1	111_112	c.112_113insA	c.(112-114)accfs	p.T38fs				H0Y7S4	PRA26_HUMAN	PRAME family member 26	0																	TCCTGCACTGGTTTTTTGTTCC	0.505																																						ENST00000423177.1																			0				breast(1)|lung(1)	2						c.(112-114)cagfs																																						SO:0001589	frameshift_variant	645359							g.chr1:13219469_13219470insT			1p36.21	2014-02-12	2013-09-24		ENSG00000229571	ENSG00000229571			49178	protein-coding gene	gene with protein product							Standard	XM_005276124		Approved			H0Y7S4	OTTHUMG00000074741	ENST00000423177.1:c.113dupA	1.37:g.13219475_13219475dupT	ENSP00000414869:p.Thr38fs		Somatic					p.Q38fs			WXS	Illumina GAIIx	Phase_I					1	111_112	-									Frame_Shift_Ins	INS	ENST00000423177.1	37	c.112_113insA																																																																																					0.505	PRAMEF26-001	PUTATIVE	not_best_in_genome_evidence|mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000158526.1			8	1775						8	1775	---	---	---	---
NBPF3	84224	broad.mit.edu	37	1	21804665	21804666	+	Frame_Shift_Ins	INS	-	-	C	rs368245318		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:21804665_21804666insC	ENST00000318249.5	+	9	1371_1372	c.1021_1022insC	c.(1021-1023)gccfs	p.A341fs	NBPF3_ENST00000454000.2_Frame_Shift_Ins_p.A271fs|NBPF3_ENST00000342104.5_Frame_Shift_Ins_p.A366fs|NBPF3_ENST00000318220.6_Frame_Shift_Ins_p.A285fs	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	341	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGAGGAGGAAGCCCCCCAGGAG	0.5																																						ENST00000318220.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(853-855)cccfs		neuroblastoma breakpoint family, member 3																																				SO:0001589	frameshift_variant	84224					cytoplasm		g.chr1:21804665_21804666insC	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1027dupC	1.37:g.21804671_21804671dupC	ENSP00000316782:p.Ala341fs		Somatic				NBPF3_ENST00000342104.5_Frame_Shift_Ins_p.P366fs|NBPF3_ENST00000318249.5_Frame_Shift_Ins_p.P341fs|NBPF3_ENST00000454000.2_Frame_Shift_Ins_p.P271fs	p.P285fs			WXS	Illumina GAIIx	Phase_I	Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	12	1901_1902	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	341			NBPF 1.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Frame_Shift_Ins	INS	ENST00000318249.5	37	c.853_854insC	CCDS216.1																																																																																				0.500	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		9	651						9	651	---	---	---	---
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)tccfs	p.S344fs	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.S354fs	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515																																						ENST00000373839.3																			1	Deletion - Frameshift(1)	p.P356fs*33(1)	ovary(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(1030-1032)cccfs		phosphatase and actin regulator 4																																				SO:0001589	frameshift_variant	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28800272_28800273insC	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1037dupC	1.37:g.28800279_28800279dupC	ENSP00000362945:p.Ser344fs		Somatic				PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs	p.P344fs	NM_001048183.1	NP_001041648.1	WXS	Illumina GAIIx	Phase_I	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	7	1291_1292	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	344			Pro-rich.		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Frame_Shift_Ins	INS	ENST00000373839.3	37	c.1030_1031insC	CCDS41293.1																																																																																				0.515	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		21	578						21	578	---	---	---	---
KHDRBS1	10657	broad.mit.edu	37	1	32503458	32503459	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:32503458_32503459insG	ENST00000327300.7	+	6	1095_1096	c.928_929insG	c.(928-930)cggfs	p.R310fs	KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Frame_Shift_Ins_p.R271fs	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1											endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGGACCACCTCGGGGGGCTTTG	0.5																																					Ovarian(173;401 1982 12359 31110 42403)	ENST00000327300.7																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14						c.(928-930)gggfs		KH domain containing, RNA binding, signal transduction associated 1																																				SO:0001589	frameshift_variant	10657				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:32503458_32503459insG	U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"""GAP-associated tyrosine phosphoprotein p62 (Sam68)"""	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.934dupG	1.37:g.32503464_32503464dupG	ENSP00000313829:p.Arg310fs		Somatic				KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Frame_Shift_Ins_p.G271fs	p.G310fs	NM_006559.1	NP_006550.1	WXS	Illumina GAIIx	Phase_I	Q07666	KHDR1_HUMAN			6	1095_1096	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	310			Arg/Gly-rich.			Frame_Shift_Ins	INS	ENST00000327300.7	37	c.928_929insG	CCDS350.1																																																																																				0.500	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011199.4	NM_006559		10	490						10	490	---	---	---	---
KIAA1522	57648	broad.mit.edu	37	1	33233494	33233495	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:33233494_33233495insC	ENST00000373480.1	+	2	268_269	c.165_166insC	c.(166-168)cccfs	p.P56fs	KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.P56fs|KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.P67fs|KIAA1522_ENST00000401073.2_Frame_Shift_Ins_p.P115fs	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	56										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCAGTGGGCGACCCCCCCACCT	0.614																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(340-345)cgccccfs		KIAA1522																																				SO:0001589	frameshift_variant	57648							g.chr1:33233494_33233495insC	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.172dupC	1.37:g.33233501_33233501dupC	ENSP00000362579:p.Pro56fs		Somatic				KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.RP66fs|KIAA1522_ENST00000373480.1_Frame_Shift_Ins_p.RP55fs|KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.RP55fs	p.RP114fs	NM_020888.2	NP_065939.2	WXS	Illumina GAIIx	Phase_I	Q9P206	K1522_HUMAN			2	412_413	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	55		S -> P (in dbSNP:rs3737994).			B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Frame_Shift_Ins	INS	ENST00000373480.1	37	c.342_343insC	CCDS55588.1																																																																																				0.614	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			14	208						14	208	---	---	---	---
PHC2	1912	broad.mit.edu	37	1	33799791	33799792	+	Frame_Shift_Ins	INS	-	-	G	rs34753508		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:33799791_33799792insG	ENST00000257118.5	-	9	1710_1711	c.1657_1658insC	c.(1657-1659)cagfs	p.Q553fs	PHC2_ENST00000373418.3_Frame_Shift_Ins_p.Q18fs|PHC2_ENST00000419414.2_Frame_Shift_Ins_p.Q554fs|PHC2_ENST00000373416.1_Frame_Shift_Ins_p.Q18fs|PHC2_ENST00000431992.1_Frame_Shift_Ins_p.Q524fs|MIR3605_ENST00000583214.1_RNA|PHC2_ENST00000373422.3_Frame_Shift_Ins_p.Q159fs|RN7SKP16_ENST00000410180.1_RNA|PHC2_ENST00000485928.1_5'UTR	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	553					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTCACCATTCTGGGGGGCAGTG	0.589																																						ENST00000257118.5																			0				autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1657-1659)gaafs		polyhomeotic homolog 2 (Drosophila)																																				SO:0001589	frameshift_variant	1912				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	g.chr1:33799791_33799792insG	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1658dupC	1.37:g.33799797_33799797dupG	ENSP00000257118:p.Gln553fs		Somatic				PHC2_ENST00000373418.3_Frame_Shift_Ins_p.E18fs|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373416.1_Frame_Shift_Ins_p.E18fs|PHC2_ENST00000373422.3_Frame_Shift_Ins_p.E159fs|PHC2_ENST00000419414.2_Frame_Shift_Ins_p.E554fs|PHC2_ENST00000431992.1_Frame_Shift_Ins_p.E524fs	p.E553fs	NM_198040.2	NP_932157.1	WXS	Illumina GAIIx	Phase_I	Q8IXK0	PHC2_HUMAN			9	1710_1711	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	553					A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Frame_Shift_Ins	INS	ENST00000257118.5	37	c.1657_1658insC	CCDS378.1																																																																																				0.589	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		7	382						7	382	---	---	---	---
AGO1	26523	broad.mit.edu	37	1	36359331	36359332	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:36359331_36359332insG	ENST00000373204.4	+	5	782_783	c.569_570insG	c.(568-573)ctggggfs	p.LG190fs	AGO1_ENST00000373206.1_Frame_Shift_Ins_p.LG115fs	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	190					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)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										TACCACCCGCTGGGGGGTGGGC	0.634																																						ENST00000373204.4																			0											c.(568-570)cggfs		argonaute RISC catalytic component 1																																				SO:0001589	frameshift_variant	26523							g.chr1:36359331_36359332insG	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.575dupG	1.37:g.36359337_36359337dupG	ENSP00000362300:p.Leu190fs		Somatic				AGO1_ENST00000373206.1_Frame_Shift_Ins_p.R115fs	p.R190fs	NM_012199.2	NP_036331.1	WXS	Illumina GAIIx	Phase_I					5	782_783	+								Q5TA57|Q6P4S0	Frame_Shift_Ins	INS	ENST00000373204.4	37	c.569_570insG	CCDS398.1																																																																																				0.634	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			7	194						7	194	---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42050006	42050007	+	Frame_Shift_Ins	INS	-	-	G	rs138785392|rs371531691		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:42050006_42050007insG	ENST00000372583.1	-	4	1347_1348	c.462_463insC	c.(460-465)cccgagfs	p.E155fs	HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.E155fs|HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.E155fs|HIVEP3_ENST00000372584.1_Frame_Shift_Ins_p.E155fs	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	155					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGAAGGTCCTCGGGGGGAATGA	0.604																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(460-465)ccaggafs		human immunodeficiency virus type I enhancer binding protein 3																																				SO:0001589	frameshift_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42050006_42050007insG	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.463dupC	1.37:g.42050012_42050012dupG	ENSP00000361664:p.Glu155fs		Somatic				HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.G155fs|HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.G155fs|HIVEP3_ENST00000372583.1_Frame_Shift_Ins_p.G155fs	p.G155fs	NM_001127714.2	NP_001121186.1	WXS	Illumina GAIIx	Phase_I	Q5T1R4	ZEP3_HUMAN			3	1476_1477	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	155					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Frame_Shift_Ins	INS	ENST00000372583.1	37	c.462_463insC	CCDS463.1																																																																																				0.604	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		7	456						7	456	---	---	---	---
SZT2	23334	broad.mit.edu	37	1	43896326	43896327	+	Frame_Shift_Ins	INS	-	-	G	rs541972325	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:43896326_43896327insG	ENST00000562955.1	+	31	4469_4470	c.4469_4470insG	c.(4468-4473)ttggggfs	p.LG1490fs	SZT2_ENST00000372442.1_Frame_Shift_Ins_p.LG648fs	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1547					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TTCAGTATCTTGGGGGGCGACT	0.609																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(4468-4470)tggfs		seizure threshold 2 homolog (mouse)																																				SO:0001589	frameshift_variant	23334					peroxisome		g.chr1:43896326_43896327insG	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4475dupG	1.37:g.43896332_43896332dupG	ENSP00000457168:p.Leu1490fs		Somatic				SZT2_ENST00000372442.1_Frame_Shift_Ins_p.W648fs	p.W1490fs	NM_015284.3	NP_056099.3	WXS	Illumina GAIIx	Phase_I	Q5T011	SZT2_HUMAN			31	4469_4470	+			1547					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Frame_Shift_Ins	INS	ENST00000562955.1	37	c.4469_4470insG	CCDS30694.2																																																																																				0.609	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		13	515						13	515	---	---	---	---
RNF220	55182	broad.mit.edu	37	1	44878032	44878033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:44878032_44878033insC	ENST00000355387.2	+	2	713_714	c.263_264insC	c.(262-267)ttccccfs	p.FP88fs	RNF220_ENST00000361799.2_Frame_Shift_Ins_p.FP88fs|RNF220_ENST00000372247.2_Frame_Shift_Ins_p.FP88fs			Q5VTB9	RN220_HUMAN	ring finger protein 220	88					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						AATCGTGATTTCCCCCCTTCTC	0.515																																						ENST00000355387.2																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						c.(262-264)tccfs		ring finger protein 220																																				SO:0001589	frameshift_variant	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:44878032_44878033insC	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.269dupC	1.37:g.44878038_44878038dupC	ENSP00000347548:p.Phe88fs		Somatic				RNF220_ENST00000372247.2_Frame_Shift_Ins_p.S88fs|RNF220_ENST00000361799.2_Frame_Shift_Ins_p.S88fs	p.S88fs			WXS	Illumina GAIIx	Phase_I	Q5VTB9	RN220_HUMAN			2	713_714	+			88					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Frame_Shift_Ins	INS	ENST00000355387.2	37	c.263_264insC	CCDS510.1																																																																																				0.515	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		11	1567						11	1567	---	---	---	---
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G	rs371885641		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)cccactfs	p.T118fs	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.T118fs	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594																																						ENST00000302250.2																			1	Deletion - Frameshift(1)	p.T118fs*43(1)	ovary(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(349-354)ccctatfs		family with sequence similarity 151, member A			,	13,4253		0,13,2120					,	3.2	0.2			92	8,8246		0,8,4119	no	frameshift,intron	ACOT11,FAM151A	NM_176782.2,NM_015547.3	,	0,21,6239	A1A1,A1R,RR		0.0969,0.3047,0.1677	,	,		21,12499				SO:0001589	frameshift_variant	338094					integral to membrane		g.chr1:55081756_55081757insG	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.352dupC	1.37:g.55081763_55081763dupG	ENSP00000306888:p.Thr118fs		Somatic				ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs	p.Y118fs	NM_176782.2	NP_788954.2	WXS	Illumina GAIIx	Phase_I	Q8WW52	F151A_HUMAN			3	511_512	-			118					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Frame_Shift_Ins	INS	ENST00000302250.2	37	c.351_352insC	CCDS594.1																																																																																				0.594	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		18	429						18	429	---	---	---	---
JAK1	3716	broad.mit.edu	37	1	65325832	65325833	+	Frame_Shift_Ins	INS	-	-	G	rs368823178		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:65325832_65325833insG	ENST00000342505.4	-	9	1537_1538	c.1289_1290insC	c.(1288-1290)ccgfs	p.P430fs		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	430					cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GGACGATCAACGGGGGGGCCAC	0.54			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(1288-1290)cttfs		Janus kinase 1																																				SO:0001589	frameshift_variant	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65325832_65325833insG	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.1290dupC	1.37:g.65325839_65325839dupG	ENSP00000343204:p.Pro430fs		Somatic					p.L430fs	NM_002227.2	NP_002218.2	WXS	Illumina GAIIx	Phase_I	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	9	1537_1538	-			430					Q59GQ2|Q9UD26	Frame_Shift_Ins	INS	ENST00000342505.4	37	c.1289_1290insC	CCDS41346.1																																																																																				0.540	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		15	434						15	434	---	---	---	---
LRRC8C	84230	broad.mit.edu	37	1	90179646	90179647	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:90179646_90179647insC	ENST00000370454.4	+	3	1772_1773	c.1517_1518insC	c.(1516-1521)ctccccfs	p.LP506fs	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	506					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		ATGAGGGAACTCCCCCCCTGGA	0.5																																						ENST00000370454.4																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28						c.(1516-1518)cccfs		leucine rich repeat containing 8 family, member C																																				SO:0001589	frameshift_variant	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90179646_90179647insC		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.1524dupC	1.37:g.90179653_90179653dupC	ENSP00000359483:p.Leu506fs		Somatic				LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	p.P506fs	NM_032270.4	NP_115646.2	WXS	Illumina GAIIx	Phase_I	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	1772_1773	+		all_lung(203;0.126)	506					B3KXS9|Q29RV6|Q9H075	Frame_Shift_Ins	INS	ENST00000370454.4	37	c.1517_1518insC	CCDS725.1																																																																																				0.500	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		7	152						7	152	---	---	---	---
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:92511121_92511122insG	ENST00000370383.4	+	4	606_607	c.508_509insG	c.(508-510)tggfs	p.W170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGCCATGACTGGGGGGGCATG	0.386																																					GBM(140;473 1857 5172 22066 49719)	ENST00000370383.4																			0				central_nervous_system(1)|large_intestine(3)|lung(8)	12						c.(508-510)gggfs		epoxide hydrolase 4																																				SO:0001589	frameshift_variant	253152					integral to membrane	hydrolase activity	g.chr1:92511121_92511122insG	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.515dupG	1.37:g.92511128_92511128dupG	ENSP00000359410:p.Trp170fs		Somatic					p.G170fs	NM_173567.4	NP_775838.3	WXS	Illumina GAIIx	Phase_I	Q8IUS5	EPHX4_HUMAN			4	606_607	+			170					Q8NCC6	Frame_Shift_Ins	INS	ENST00000370383.4	37	c.508_509insG	CCDS736.1																																																																																				0.386	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567		21	459						21	459	---	---	---	---
CDC14A	8556	broad.mit.edu	37	1	100889836	100889837	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:100889836_100889837insC	ENST00000336454.3	+	5	723_724	c.368_369insC	c.(367-372)aaccccfs	p.NP123fs	CDC14A_ENST00000544534.1_Frame_Shift_Ins_p.NP123fs|CDC14A_ENST00000370124.3_Frame_Shift_Ins_p.NP123fs|CDC14A_ENST00000361544.6_Frame_Shift_Ins_p.NP123fs|CDC14A_ENST00000542213.1_Frame_Shift_Ins_p.NP65fs|CDC14A_ENST00000370125.2_Frame_Shift_Ins_p.NP123fs|CDC14A_ENST00000469387.1_3'UTR	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	123	A.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCTGGCTCAAACCCCCCCTATC	0.401																																						ENST00000370125.2																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31						c.(367-369)accfs		cell division cycle 14A																																				SO:0001589	frameshift_variant	8556				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr1:100889836_100889837insC	AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.375dupC	1.37:g.100889843_100889843dupC	ENSP00000336739:p.Asn123fs		Somatic				CDC14A_ENST00000361544.6_Frame_Shift_Ins_p.T123fs|CDC14A_ENST00000542213.1_Frame_Shift_Ins_p.T65fs|CDC14A_ENST00000544534.1_Frame_Shift_Ins_p.T123fs|CDC14A_ENST00000336454.3_Frame_Shift_Ins_p.T123fs|CDC14A_ENST00000370124.3_Frame_Shift_Ins_p.T123fs|CDC14A_ENST00000469387.1_3'UTR	p.T123fs			WXS	Illumina GAIIx	Phase_I	Q9UNH5	CC14A_HUMAN		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)	5	856_857	+		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)	123			A.		A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Frame_Shift_Ins	INS	ENST00000336454.3	37	c.368_369insC	CCDS769.1																																																																																				0.401	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312		7	88						7	88	---	---	---	---
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C	rs552970171		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)gccfs	p.A352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505																																						ENST00000369732.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(1054-1056)catfs		oviductal glycoprotein 1, 120kDa																																				SO:0001589	frameshift_variant	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111959046_111959047insC	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1055dupG	1.37:g.111959053_111959053dupC	ENSP00000358747:p.Ala352fs		Somatic				OVGP1_ENST00000540696.1_3'UTR	p.H352fs	NM_002557.3	NP_002548.3	WXS	Illumina GAIIx	Phase_I	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	10	1109_1110	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	352					A0AV19|B9EGE1|Q15841	Frame_Shift_Ins	INS	ENST00000369732.3	37	c.1054_1055insG	CCDS834.1																																																																																				0.505	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		33	700						33	700	---	---	---	---
OLFML3	56944	broad.mit.edu	37	1	114523958	114523959	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:114523958_114523959insC	ENST00000320334.4	+	3	862_863	c.788_789insC	c.(787-792)atccccfs	p.IP263fs	OLFML3_ENST00000369551.1_Frame_Shift_Ins_p.IP243fs|OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.IP243fs|OLFML3_ENST00000491700.1_3'UTR	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	263	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGGGCTGATCCCCCCCTACG	0.559																																						ENST00000369551.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14						c.(727-729)accfs		olfactomedin-like 3																																				SO:0001589	frameshift_variant	56944				multicellular organismal development	extracellular region		g.chr1:114523958_114523959insC	AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.795dupC	1.37:g.114523965_114523965dupC	ENSP00000322273:p.Ile263fs		Somatic				OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.T243fs|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000320334.4_Frame_Shift_Ins_p.T263fs	p.T243fs			WXS	Illumina GAIIx	Phase_I	Q9NRN5	OLFL3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1016_1017	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	263			Olfactomedin-like.		Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Frame_Shift_Ins	INS	ENST00000320334.4	37	c.728_729insC	CCDS870.1																																																																																				0.559	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033119.1	NM_020190		18	221						18	221	---	---	---	---
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1627-1629)cccfs	p.P543fs	ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.P400fs|ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.P412fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	543					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCAGCCAGAACCCCCCCAGGA	0.554																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1624-1629)gaccccfs		integrin, alpha 10																																				SO:0001589	frameshift_variant	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145534121_145534122insC	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1633dupC	1.37:g.145534128_145534128dupC	ENSP00000358310:p.Pro543fs		Somatic				ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs|ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs	p.DP542fs	NM_003637.3	NP_003628.2	WXS	Illumina GAIIx	Phase_I	O75578	ITA10_HUMAN			14	1801_1802	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		542					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Frame_Shift_Ins	INS	ENST00000369304.3	37	c.1626_1627insC	CCDS918.1																																																																																				0.554	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		16	400						16	400	---	---	---	---
SELENBP1	8991	broad.mit.edu	37	1	151338280	151338281	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:151338280_151338281insG	ENST00000368868.5	-	8	976_977	c.885_886insC	c.(883-888)cccaagfs	p.K296fs	SELENBP1_ENST00000447402.3_Frame_Shift_Ins_p.K234fs|SELENBP1_ENST00000435071.1_Frame_Shift_Ins_p.K232fs|SELENBP1_ENST00000426705.2_Frame_Shift_Ins_p.K338fs|SELENBP1_ENST00000473693.1_5'Flank	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	296					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTCACTTTCTTGGGGGGCACCT	0.545																																						ENST00000435071.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20						c.(691-696)ccagaafs		selenium binding protein 1																																				SO:0001589	frameshift_variant	8991				protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	g.chr1:151338280_151338281insG	U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.886dupC	1.37:g.151338286_151338286dupG	ENSP00000357861:p.Lys296fs		Somatic				SELENBP1_ENST00000447402.3_Frame_Shift_Ins_p.E234fs|SELENBP1_ENST00000368868.5_Frame_Shift_Ins_p.E296fs|SELENBP1_ENST00000426705.2_Frame_Shift_Ins_p.E338fs	p.E232fs			WXS	Illumina GAIIx	Phase_I	Q13228	SBP1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		8	1155_1156	-	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		296					A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Frame_Shift_Ins	INS	ENST00000368868.5	37	c.693_694insC	CCDS995.1																																																																																				0.545	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4			7	429						7	429	---	---	---	---
LCE1F	353137	broad.mit.edu	37	1	152748933	152748934	+	Frame_Shift_Ins	INS	-	-	C	rs374063171		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:152748933_152748934insC	ENST00000334371.2	+	1	86_87	c.86_87insC	c.(85-90)tgccccfs	p.CP29fs		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	29	Pro-rich.				keratinization (GO:0031424)					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			acaccgaagtgccccccaaagt	0.658																																						ENST00000334371.2																			0				kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(85-87)tccfs		late cornified envelope 1F																																				SO:0001589	frameshift_variant	353137				keratinization			g.chr1:152748933_152748934insC		CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"""Late cornified envelopes"""	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.92dupC	1.37:g.152748939_152748939dupC	ENSP00000334187:p.Cys29fs		Somatic					p.S29fs	NM_178354.2	NP_848131.1	WXS	Illumina GAIIx	Phase_I	Q5T754	LCE1F_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	86_87	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		29			Pro-rich.			Frame_Shift_Ins	INS	ENST00000334371.2	37	c.86_87insC	CCDS1023.1																																																																																				0.658	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	NM_178354		7	156						7	156	---	---	---	---
HAX1	10456	broad.mit.edu	37	1	154246356	154246357	+	Frame_Shift_Ins	INS	-	-	G	rs200778148		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:154246356_154246357insG	ENST00000328703.7	+	3	636_637	c.423_424insG	c.(424-426)gggfs	p.G142fs	HAX1_ENST00000532105.1_Frame_Shift_Ins_p.G14fs|HAX1_ENST00000457918.2_Frame_Shift_Ins_p.G94fs|HAX1_ENST00000483970.2_Frame_Shift_Ins_p.G150fs	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	142	Involved in HCLS1 binding.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCAGGATCTTTGGGGGGGTCTT	0.554									Kostmann syndrome																													ENST00000328703.7																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(421-426)ttggggfs		HCLS1 associated protein X-1																																				SO:0001589	frameshift_variant	10456	Kostmann syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154246356_154246357insG	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.430dupG	1.37:g.154246363_154246363dupG	ENSP00000329002:p.Gly142fs		Somatic				HAX1_ENST00000532105.1_Frame_Shift_Ins_p.LG13fs|HAX1_ENST00000457918.2_Frame_Shift_Ins_p.LG93fs|HAX1_ENST00000483970.2_Frame_Shift_Ins_p.LG149fs	p.LG141fs	NM_006118.3	NP_006109.2	WXS	Illumina GAIIx	Phase_I	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		3	636_637	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		141		F -> L (in SCN3; mild form).	Involved in HCLS1 binding.		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Frame_Shift_Ins	INS	ENST00000328703.7	37	c.423_424insG	CCDS1064.1																																																																																				0.554	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		11	264						11	264	---	---	---	---
MRPL24	79590	broad.mit.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:156708444_156708445insG	ENST00000361531.2	-	2	188_189	c.52_53insC	c.(52-54)catfs	p.H18fs	MRPL24_ENST00000368211.4_Frame_Shift_Ins_p.H18fs|MRPL24_ENST00000478899.1_5'Flank			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	18					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATAGCGGTAATGGGGGGGCAGA	0.574																																						ENST00000368211.4																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(52-54)ttafs		mitochondrial ribosomal protein L24																																				SO:0001589	frameshift_variant	79590				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr1:156708444_156708445insG	AB051341	CCDS1155.1	1q23.1	2012-11-14			ENSG00000143314	ENSG00000143314		"""Mitochondrial ribosomal proteins / large subunits"""	14037	protein-coding gene	gene with protein product		611836					Standard	NM_145729		Approved	MRP-L18	uc001fpx.1	Q96A35	OTTHUMG00000041296	ENST00000361531.2:c.53dupC	1.37:g.156708451_156708451dupG	ENSP00000354525:p.His18fs		Somatic				MRPL24_ENST00000361531.2_Frame_Shift_Ins_p.L18fs	p.L18fs	NM_024540.3|NM_145729.2	NP_078816.2|NP_663781.1	WXS	Illumina GAIIx	Phase_I	Q96A35	RM24_HUMAN			2	190_191	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		18					D3DVC8|Q53G65|Q53HT0|Q5SYZ9|Q5SZ00|Q5SZ02|Q96Q70|Q9H7G3	Frame_Shift_Ins	INS	ENST00000361531.2	37	c.52_53insC	CCDS1155.1																																																																																				0.574	MRPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098955.1	NM_145729		9	232						9	232	---	---	---	---
KIRREL	55243	broad.mit.edu	37	1	158058202	158058203	+	Frame_Shift_Ins	INS	-	-	C	rs548707549		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:158058202_158058203insC	ENST00000359209.6	+	8	1069_1070	c.1002_1003insC	c.(1003-1005)cccfs	p.P335fs	KIRREL_ENST00000416935.2_Frame_Shift_Ins_p.P235fs|KIRREL_ENST00000368172.1_Frame_Shift_Ins_p.P133fs|KIRREL_ENST00000360089.4_Frame_Shift_Ins_p.P171fs|KIRREL_ENST00000392272.2_Frame_Shift_Ins_p.P232fs|KIRREL_ENST00000368173.3_Frame_Shift_Ins_p.P335fs			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	335	Ig-like C2-type 4.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGGTTGGGAATCCCCCCCTCAC	0.455																																						ENST00000368172.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(394-399)aaccccfs		kin of IRRE like (Drosophila)																																				SO:0001589	frameshift_variant	55243					integral to membrane		g.chr1:158058202_158058203insC	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1009dupC	1.37:g.158058209_158058209dupC	ENSP00000352138:p.Pro335fs		Somatic				KIRREL_ENST00000368173.3_Frame_Shift_Ins_p.NP334fs|KIRREL_ENST00000392272.2_Frame_Shift_Ins_p.NP231fs|KIRREL_ENST00000416935.2_Frame_Shift_Ins_p.NP234fs|KIRREL_ENST00000359209.6_Frame_Shift_Ins_p.NP334fs|KIRREL_ENST00000360089.4_Frame_Shift_Ins_p.NP170fs	p.NP132fs			WXS	Illumina GAIIx	Phase_I	Q96J84	KIRR1_HUMAN			4	408_409	+	all_hematologic(112;0.0378)		334			Ig-like C2-type 2.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Frame_Shift_Ins	INS	ENST00000359209.6	37	c.396_397insC	CCDS1172.2																																																																																				0.455	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		11	454						11	454	---	---	---	---
OR10Z1	128368	broad.mit.edu	37	1	158577072	158577073	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:158577072_158577073insC	ENST00000361284.1	+	1	844_845	c.844_845insC	c.(844-846)accfs	p.T282fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TACTGTAGTGACCCCCCTCCTT	0.46																																						ENST00000361284.1																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(844-846)cccfs		olfactory receptor, family 10, subfamily Z, member 1																																				SO:0001589	frameshift_variant	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158577072_158577073insC	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.850dupC	1.37:g.158577078_158577078dupC	ENSP00000354707:p.Thr282fs		Somatic					p.P282fs	NM_001004478.1	NP_001004478.1	WXS	Illumina GAIIx	Phase_I	Q8NGY1	O10Z1_HUMAN			1	844_845	+	all_hematologic(112;0.0378)		282					Q5VYL0|Q6IFR7	Frame_Shift_Ins	INS	ENST00000361284.1	37	c.844_845insC	CCDS30901.1																																																																																				0.460	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		8	1134						8	1134	---	---	---	---
IGSF9	57549	broad.mit.edu	37	1	159904586	159904587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:159904586_159904587insG	ENST00000368094.1	-	7	896_897	c.699_700insC	c.(697-702)cccaagfs	p.K234fs	IGSF9_ENST00000493195.1_5'Flank|IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.K234fs	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	234	Ig-like 3.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGCTGTTCTTGGGGGGCACCA	0.569																																						ENST00000368094.1																			0				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(697-702)ccagaafs		immunoglobulin superfamily, member 9																																				SO:0001589	frameshift_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159904586_159904587insG	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.700dupC	1.37:g.159904592_159904592dupG	ENSP00000357073:p.Lys234fs		Somatic				IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.E234fs	p.E234fs	NM_001135050.1	NP_001128522.1	WXS	Illumina GAIIx	Phase_I	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		7	896_897	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	234			Ig-like 3.			Frame_Shift_Ins	INS	ENST00000368094.1	37	c.699_700insC	CCDS44254.1																																																																																				0.569	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		10	503						10	503	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176762723	176762724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:176762723_176762724insC	ENST00000367662.3	+	20	6212_6213	c.5048_5049insC	c.(5047-5052)atccccfs	p.IP1683fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1683	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGTGTGTAATCCCCCCCAGTG	0.47																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(5047-5049)accfs		pappalysin 2																																				SO:0001589	frameshift_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176762723_176762724insC	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.5055dupC	1.37:g.176762730_176762730dupC	ENSP00000356634:p.Ile1683fs		Somatic					p.T1683fs	NM_020318.2	NP_064714.2	WXS	Illumina GAIIx	Phase_I	Q9BXP8	PAPP2_HUMAN			20	6212_6213	+			1683			Sushi 5.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Frame_Shift_Ins	INS	ENST00000367662.3	37	c.5048_5049insC	CCDS41438.1																																																																																				0.470	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			38	666						38	666	---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201046125	201046126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:201046125_201046126insC	ENST00000362061.3	-	12	1975_1976	c.1749_1750insG	c.(1747-1752)gggaggfs	p.R584fs	CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.R584fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	584					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGTCATACCTCCCCCCAAAGA	0.574																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1747-1752)ggggtafs		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)																																			SO:0001589	frameshift_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201046125_201046126insC	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1750dupG	1.37:g.201046131_201046131dupC	ENSP00000355192:p.Arg584fs		Somatic				CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.V584fs	p.V584fs	NM_000069.2	NP_000060.2	WXS	Illumina GAIIx	Phase_I	Q13698	CAC1S_HUMAN			12	1975_1976	-			584					A4IF51|B1ALM2|Q12896|Q13934	Frame_Shift_Ins	INS	ENST00000362061.3	37	c.1749_1750insG	CCDS1407.1																																																																																				0.574	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		14	486						14	486	---	---	---	---
FMOD	2331	broad.mit.edu	37	1	203316599	203316600	+	Frame_Shift_Ins	INS	-	-	C	rs139730140		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:203316599_203316600insC	ENST00000354955.4	-	2	1262_1263	c.799_800insG	c.(799-801)gcgfs	p.A267fs	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	267					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CAGCTTGGGCGCCCCCCGGAAG	0.579																																						ENST00000354955.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(799-801)gccfs		fibromodulin																																				SO:0001589	frameshift_variant	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203316599_203316600insC	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.800dupG	1.37:g.203316605_203316605dupC	ENSP00000347041:p.Ala267fs		Somatic				FMOD_ENST00000464898.1_5'UTR	p.A267fs	NM_002023.4	NP_002014.2	WXS	Illumina GAIIx	Phase_I	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		2	1262_1263	-			267					Q15331|Q8IV47	Frame_Shift_Ins	INS	ENST00000354955.4	37	c.799_800insG	CCDS30976.1																																																																																				0.579	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		8	334						8	334	---	---	---	---
PLXNA2	5362	broad.mit.edu	37	1	208315786	208315787	+	Frame_Shift_Ins	INS	-	-	G	rs200374067	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:208315786_208315787insG	ENST00000367033.3	-	4	2150_2151	c.1393_1394insC	c.(1393-1395)catfs	p.H465fs		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	465	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.H465fs*57(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GACCCCACCATGGGGGGGACCG	0.594																																						ENST00000367033.3																			1	Deletion - Frameshift(1)	p.H465fs*57(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(1393-1395)tggfs		plexin A2																																				SO:0001589	frameshift_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208315786_208315787insG	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1394dupC	1.37:g.208315793_208315793dupG	ENSP00000356000:p.His465fs		Somatic					p.W465fs	NM_025179.3	NP_079455.3	WXS	Illumina GAIIx	Phase_I	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	4	2150_2151	-			465			Sema.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Frame_Shift_Ins	INS	ENST00000367033.3	37	c.1393_1394insC	CCDS31013.1																																																																																				0.594	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		7	803						7	803	---	---	---	---
TRIM17	51127	broad.mit.edu	37	1	228596934	228596935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:228596934_228596935insG	ENST00000366697.2	-	5	1777_1778	c.821_822insC	c.(820-822)ccafs	p.P274fs	TRIM11_ENST00000366699.3_5'Flank|TRIM17_ENST00000456946.2_Frame_Shift_Ins_p.P274fs|TRIM17_ENST00000366698.2_Frame_Shift_Ins_p.P274fs|TRIM11_ENST00000284551.6_5'Flank|TRIM17_ENST00000295033.3_Frame_Shift_Ins_p.P274fs|RP11-245P10.4_ENST00000436779.1_RNA			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	274					protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TGGGTCTGGTTGGGGGGGCAAC	0.579																																						ENST00000366697.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10						c.(820-822)cacfs		tripartite motif containing 17																																				SO:0001589	frameshift_variant	51127				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:228596934_228596935insG	AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13430	protein-coding gene	gene with protein product	"""ring finger protein 16"", ""RING finger protein terf"", ""testis RING finger protein"""	606123	"""tripartite motif-containing 17"""	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.822dupC	1.37:g.228596941_228596941dupG	ENSP00000355658:p.Pro274fs		Somatic				TRIM17_ENST00000366698.2_Frame_Shift_Ins_p.H274fs|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000456946.2_Frame_Shift_Ins_p.H274fs|TRIM17_ENST00000295033.3_Frame_Shift_Ins_p.H274fs	p.H274fs			WXS	Illumina GAIIx	Phase_I	Q9Y577	TRI17_HUMAN			5	1777_1778	-		Prostate(94;0.0724)	274					B4DVJ2|Q5VST8	Frame_Shift_Ins	INS	ENST00000366697.2	37	c.821_822insC	CCDS1571.1																																																																																				0.579	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	NM_016102		7	195						7	195	---	---	---	---
ACTA1	58	broad.mit.edu	37	1	229567546	229567547	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:229567546_229567547insC	ENST00000366684.3	-	6	1013_1014	c.911_912insG	c.(910-912)ggcfs	p.G304fs	ACTA1_ENST00000366683.2_Frame_Shift_Ins_p.G216fs	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	304					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				ACATCGTGGTGCCCCCCGACAT	0.589																																						ENST00000366684.3																			0				endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28						c.(910-912)gacfs		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)																																			SO:0001589	frameshift_variant	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229567546_229567547insC	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.912dupG	1.37:g.229567552_229567552dupC	ENSP00000355645:p.Gly304fs		Somatic				ACTA1_ENST00000366683.2_Frame_Shift_Ins_p.D216fs	p.D304fs	NM_001100.3	NP_001091.1	WXS	Illumina GAIIx	Phase_I	P68133	ACTS_HUMAN			6	1013_1014	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	304					P02568|P99020|Q5T8M9	Frame_Shift_Ins	INS	ENST00000366684.3	37	c.911_912insG	CCDS1578.1																																																																																				0.589	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		7	285						7	285	---	---	---	---
OR14I1	401994	broad.mit.edu	37	1	248844881	248844882	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:248844881_248844882insG	ENST00000342623.3	-	1	747_748	c.724_725insC	c.(724-726)cagfs	p.Q242fs		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GACAATGAGCTGGGGGGAGCAG	0.465																																						ENST00000342623.3																			0				NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(724-726)gctfs		olfactory receptor, family 14, subfamily I, member 1																																				SO:0001589	frameshift_variant	401994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248844881_248844882insG		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.725dupC	1.37:g.248844887_248844887dupG	ENSP00000339726:p.Gln242fs		Somatic					p.A242fs	NM_001004734.1	NP_001004734.1	WXS	Illumina GAIIx	Phase_I	A6ND48	O14I1_HUMAN			1	747_748	-			242						Frame_Shift_Ins	INS	ENST00000342623.3	37	c.724_725insC	CCDS31125.1																																																																																				0.465	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		7	225						7	225	---	---	---	---
FBXO48	554251	broad.mit.edu	37	2	68691369	68691370	+	Frame_Shift_Ins	INS	-	-	C	rs36078393		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:68691369_68691370insC	ENST00000377957.3	-	4	846_847	c.439_440insG	c.(439-441)gaafs	p.E147fs		NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48	147										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TTCTAGAATTTCCCCCCATGTA	0.386																																						ENST00000377957.2																			0				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						c.(439-441)aatfs		F-box protein 48																																				SO:0001589	frameshift_variant	554251							g.chr2:68691369_68691370insC	BC089423	CCDS33213.1	2p13.3	2011-03-09			ENSG00000204923	ENSG00000204923		"""F-boxes /  ""other"""""	33857	protein-coding gene	gene with protein product							Standard	XM_005264407		Approved		uc002seo.3	Q5FWF7	OTTHUMG00000152585	ENST00000377957.3:c.440dupG	2.37:g.68691375_68691375dupC	ENSP00000367193:p.Glu147fs		Somatic					p.N147fs	NM_001024680.1	NP_001019851.1	WXS	Illumina GAIIx	Phase_I	Q5FWF7	FBX48_HUMAN			4	846_847	-			147						Frame_Shift_Ins	INS	ENST00000377957.3	37	c.439_440insG	CCDS33213.1																																																																																				0.386	FBXO48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326900.2	NM_001024680		7	257						7	257	---	---	---	---
ANTXR1	84168	broad.mit.edu	37	2	69409763	69409764	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:69409763_69409764insC	ENST00000303714.4	+	16	1646_1647	c.1324_1325insC	c.(1324-1326)tccfs	p.S442fs	RNU6-1216P_ENST00000362590.2_RNA|RNA5SP96_ENST00000516041.1_RNA	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	442					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCGGCCTTCTTCCCCCCGGAAG	0.421									Familial Infantile Hemangioma																													ENST00000303714.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1324-1326)cccfs		anthrax toxin receptor 1																																				SO:0001589	frameshift_variant	84168	Familial Infantile Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69409763_69409764insC	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1330dupC	2.37:g.69409769_69409769dupC	ENSP00000301945:p.Ser442fs		Somatic					p.P442fs	NM_032208.2	NP_115584.1	WXS	Illumina GAIIx	Phase_I	Q9H6X2	ANTR1_HUMAN			16	1646_1647	+			442					A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Frame_Shift_Ins	INS	ENST00000303714.4	37	c.1324_1325insC	CCDS1892.1																																																																																				0.421	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		8	447						8	447	---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71839796	71839797	+	Frame_Shift_Ins	INS	-	-	C	rs398123786		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:71839796_71839797insC	ENST00000258104.3	+	39	4470_4471	c.4193_4194insC	c.(4192-4197)tgccccfs	p.CP1398fs	DYSF_ENST00000409744.1_Frame_Shift_Ins_p.CP1385fs|DYSF_ENST00000409762.1_Frame_Shift_Ins_p.CP1415fs|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410020.3_Frame_Shift_Ins_p.CP1416fs|DYSF_ENST00000429174.2_Frame_Shift_Ins_p.CP1398fs|DYSF_ENST00000409366.1_Frame_Shift_Ins_p.CP1399fs|DYSF_ENST00000409582.3_Frame_Shift_Ins_p.CP1415fs|DYSF_ENST00000394120.2_Frame_Shift_Ins_p.CP1399fs|DYSF_ENST00000410041.1_Frame_Shift_Ins_p.CP1416fs|DYSF_ENST00000409651.1_Frame_Shift_Ins_p.CP1430fs|DYSF_ENST00000413539.2_Frame_Shift_Ins_p.CP1429fs	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1398	C2 5. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAGCTCTACTGCCCCCCCATCA	0.619																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111	GRCh37	CM053841	DYSF	M		c.(4192-4194)tccfs		dysferlin																																				SO:0001589	frameshift_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71839796_71839797insC	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4200dupC	2.37:g.71839803_71839803dupC	ENSP00000258104:p.Cys1398fs		Somatic				DYSF_ENST00000409762.1_Frame_Shift_Ins_p.S1415fs|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Frame_Shift_Ins_p.S1398fs|DYSF_ENST00000410020.3_Frame_Shift_Ins_p.S1416fs|DYSF_ENST00000413539.2_Frame_Shift_Ins_p.S1429fs|DYSF_ENST00000410041.1_Frame_Shift_Ins_p.S1416fs|DYSF_ENST00000409651.1_Frame_Shift_Ins_p.S1430fs|DYSF_ENST00000409582.3_Frame_Shift_Ins_p.S1415fs|DYSF_ENST00000409366.1_Frame_Shift_Ins_p.S1399fs|DYSF_ENST00000394120.2_Frame_Shift_Ins_p.S1399fs|DYSF_ENST00000409744.1_Frame_Shift_Ins_p.S1385fs	p.S1398fs	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	WXS	Illumina GAIIx	Phase_I	O75923	DYSF_HUMAN			39	4470_4471	+			1398					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Frame_Shift_Ins	INS	ENST00000258104.3	37	c.4193_4194insC	CCDS1918.1																																																																																				0.619	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		13	113						13	113	---	---	---	---
DCTN1	1639	broad.mit.edu	37	2	74593376	74593377	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:74593376_74593377insG	ENST00000361874.3	-	23	3071_3072	c.2754_2755insC	c.(2752-2757)cccagcfs	p.S919fs	DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.S899fs|RP11-287D1.3_ENST00000451608.2_5'Flank|DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.S785fs|DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.S912fs|DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.S785fs|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.S902fs|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.S882fs	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	919					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCTACCTTGCTGGGGGGCCGCT	0.559																																						ENST00000361874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(2752-2757)ccgcaafs		dynactin 1																																				SO:0001589	frameshift_variant	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74593376_74593377insG		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.2755dupC	2.37:g.74593382_74593382dupG	ENSP00000354791:p.Ser919fs		Somatic				DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.Q912fs|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.Q902fs|DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.Q882fs|DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.Q899fs|DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000495643.1_5'UTR	p.Q919fs	NM_004082.4	NP_004073.2	WXS	Illumina GAIIx	Phase_I	Q14203	DCTN1_HUMAN			23	3071_3072	-			919					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Frame_Shift_Ins	INS	ENST00000361874.3	37	c.2754_2755insC	CCDS1939.1																																																																																				0.559	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		10	855						10	855	---	---	---	---
HK2	3099	broad.mit.edu	37	2	75104377	75104378	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:75104377_75104378insG	ENST00000290573.2	+	8	1560_1561	c.960_961insG	c.(961-963)gggfs	p.G321fs	HK2_ENST00000409174.1_Frame_Shift_Ins_p.G293fs	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	321	Hexokinase type-2 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						AGCTGCTCTTTGGGGGGAAGCT	0.545																																						ENST00000290573.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(958-963)ttggggfs		hexokinase 2																																				SO:0001589	frameshift_variant	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75104377_75104378insG		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.966dupG	2.37:g.75104383_75104383dupG	ENSP00000290573:p.Gly321fs		Somatic				HK2_ENST00000409174.1_Frame_Shift_Ins_p.LG292fs	p.LG320fs	NM_000189.4	NP_000180.2	WXS	Illumina GAIIx	Phase_I	P52789	HXK2_HUMAN			8	1560_1561	+			320			Regulatory.		D6W5J2|Q8WU87|Q9UN82	Frame_Shift_Ins	INS	ENST00000290573.2	37	c.960_961insG	CCDS1956.1																																																																																				0.545	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		7	540						7	540	---	---	---	---
SAP130	79595	broad.mit.edu	37	2	128707524	128707525	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:128707524_128707525insG	ENST00000259235.3	-	17	2817_2818	c.2688_2689insC	c.(2686-2691)cccattfs	p.I897fs	SAP130_ENST00000357702.5_Frame_Shift_Ins_p.I932fs|SAP130_ENST00000259234.6_Frame_Shift_Ins_p.I905fs	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	897	Interactions with SIN3A and HDAC1.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AGCAAAGTAATGGGGGGTCTTG	0.46																																						ENST00000357702.5																			0				NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(2791-2796)ccttacfs		Sin3A-associated protein, 130kDa																																				SO:0001589	frameshift_variant	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128707524_128707525insG	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.2689dupC	2.37:g.128707530_128707530dupG	ENSP00000259235:p.Ile897fs		Somatic				SAP130_ENST00000259234.6_Frame_Shift_Ins_p.Y905fs|SAP130_ENST00000259235.3_Frame_Shift_Ins_p.Y897fs	p.Y932fs	NM_001145928.1	NP_001139400.1	WXS	Illumina GAIIx	Phase_I	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	18	2924_2925	-	Colorectal(110;0.1)		897			Interactions with SIN3A and HDAC1.		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Frame_Shift_Ins	INS	ENST00000259235.3	37	c.2793_2794insC	CCDS2153.1																																																																																				0.460	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		9	820						9	820	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2056-2058)gggfs	p.G686fs	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.G464fs|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.G686fs	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	511					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGACATAACTGGGGGGGATGT	0.421																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2053-2058)acggggfs		xin actin-binding repeat containing 2																																				SO:0001589	frameshift_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099957_168099958insG	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2062dupG	2.37:g.168099964_168099964dupG	ENSP00000386840:p.Gly686fs		Somatic				XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron	p.TG685fs	NM_152381.5	NP_689594.4	WXS	Illumina GAIIx	Phase_I	A4UGR9	XIRP2_HUMAN			9	2144_2145	+			510					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Frame_Shift_Ins	INS	ENST00000409195.1	37	c.2055_2056insG	CCDS42769.1																																																																																				0.421	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		13	302						13	302	---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:171240258_171240259insC	ENST00000408978.4	+	12	1367_1368	c.1224_1225insC	c.(1225-1227)cccfs	p.P409fs	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.P409fs|MYO3B_ENST00000334231.6_Frame_Shift_Ins_p.P418fs	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	409	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCGCCTCCAATCCCCCCCACAT	0.465																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(1249-1254)aaccccfs		myosin IIIB																																				SO:0001589	frameshift_variant	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171240258_171240259insC		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1231dupC	2.37:g.171240265_171240265dupC	ENSP00000386213:p.Pro409fs		Somatic				MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs	p.NP417fs			WXS	Illumina GAIIx	Phase_I	Q8WXR4	MYO3B_HUMAN			12	1251_1252	+			408			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Frame_Shift_Ins	INS	ENST00000408978.4	37	c.1251_1252insC	CCDS42773.1																																																																																				0.465	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			11	340						11	340	---	---	---	---
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G	rs201174472|rs387906384		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cacfs	p.H206fs	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619																																						ENST00000295108.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	GRCh37	CI992797	NEUROD1	I		c.(616-618)cctfs		neuronal differentiation 1																																				SO:0001589	frameshift_variant	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182542971_182542972insG	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.617dupC	2.37:g.182542978_182542978dupG	ENSP00000295108:p.His206fs		Somatic				NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	p.P206fs	NM_002500.4	NP_002491.2	WXS	Illumina GAIIx	Phase_I	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	1073_1074	-			206					B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Frame_Shift_Ins	INS	ENST00000295108.3	37	c.616_617insC	CCDS2283.1																																																																																				0.619	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		13	308						13	308	---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G	rs567294324		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)aggfs	p.R559fs	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.R523fs|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.R513fs	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	GACTATTTCAAGGGGGGGACTG	0.431																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(1675-1677)gggfs		integrin, alpha V																																				SO:0001589	frameshift_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187521084_187521085insG		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1682dupG	2.37:g.187521091_187521091dupG	ENSP00000261023:p.Arg559fs		Somatic				ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs	p.G559fs	NM_002210.3	NP_002201.1	WXS	Illumina GAIIx	Phase_I	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	17	1949_1950	+			559					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Frame_Shift_Ins	INS	ENST00000261023.3	37	c.1675_1676insG	CCDS2292.1																																																																																				0.431	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		17	498						17	498	---	---	---	---
ALS2	57679	broad.mit.edu	37	2	202588159	202588160	+	Frame_Shift_Ins	INS	-	-	C	rs41309046	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:202588159_202588160insC	ENST00000264276.6	-	22	3889_3890	c.3517_3518insG	c.(3517-3519)gaafs	p.E1173fs	ALS2_ENST00000457679.2_Frame_Shift_Ins_p.E485fs	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1173					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CATATACTTTTCCCCCCTGCAC	0.406																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(3517-3519)aaafs		amyotrophic lateral sclerosis 2 (juvenile)																																				SO:0001589	frameshift_variant	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202588159_202588160insC	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.3518dupG	2.37:g.202588165_202588165dupC	ENSP00000264276:p.Glu1173fs		Somatic				ALS2_ENST00000457679.2_Frame_Shift_Ins_p.K485fs	p.K1173fs	NM_020919.3	NP_065970.2	WXS	Illumina GAIIx	Phase_I	Q96Q42	ALS2_HUMAN			22	3889_3890	-			1173					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Frame_Shift_Ins	INS	ENST00000264276.6	37	c.3517_3518insG	CCDS42800.1																																																																																				0.406	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		8	333						8	333	---	---	---	---
FAM117B	150864	broad.mit.edu	37	2	203621968	203621969	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:203621968_203621969insC	ENST00000392238.2	+	6	1137_1138	c.1137_1138insC	c.(1138-1140)cccfs	p.P380fs	FAM117B_ENST00000303116.6_Frame_Shift_Ins_p.P136fs			Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	380										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						ATCGTGCTCCACCCCCCCTTGT	0.485																																						ENST00000303116.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						c.(403-408)ccccccfs		family with sequence similarity 117, member B																																				SO:0001589	frameshift_variant	150864							g.chr2:203621968_203621969insC	AB053315	CCDS33362.1, CCDS33362.2	2q33	2008-08-18	2008-08-18	2008-08-18	ENSG00000138439	ENSG00000138439			14440	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13"""	ALS2CR13		11586298	Standard	NM_173511		Approved	FLJ38771	uc010zhx.2	Q6P1L5	OTTHUMG00000154550	ENST00000392238.2:c.1144dupC	2.37:g.203621975_203621975dupC	ENSP00000376071:p.Pro380fs		Somatic				FAM117B_ENST00000392238.2_Frame_Shift_Ins_p.PP379fs	p.PP135fs	NM_173511.3	NP_775782.2	WXS	Illumina GAIIx	Phase_I	Q6P1L5	F117B_HUMAN			6	1147_1148	+			379					Q53QZ5|Q585T9|Q8N8W1|Q96Q34	Frame_Shift_Ins	INS	ENST00000392238.2	37	c.405_406insC	CCDS33362.2																																																																																				0.485	FAM117B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335888.3	NM_173511		11	119						11	119	---	---	---	---
RUFY4	285180	broad.mit.edu	37	2	218940309	218940310	+	Frame_Shift_Ins	INS	-	-	G	rs377110484		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:218940309_218940310insG	ENST00000344321.7	+	9	1612_1613	c.1094_1095insG	c.(1093-1098)tcggggfs	p.SG365fs	RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000374155.3_Frame_Shift_Ins_p.SG385fs|RUFY4_ENST00000463872.1_3'UTR	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	365							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGCAGGGGTCGGGGGGCTCTA	0.594																																						ENST00000374155.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(1153-1155)tggfs		RUN and FYVE domain containing 4																																				SO:0001589	frameshift_variant	285180						metal ion binding	g.chr2:218940309_218940310insG	AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"""Zinc fingers, FYVE domain containing"""	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.1100dupG	2.37:g.218940315_218940315dupG	ENSP00000345900:p.Ser365fs		Somatic				RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Frame_Shift_Ins_p.W365fs|RUFY4_ENST00000463872.1_3'UTR	p.W385fs			WXS	Illumina GAIIx	Phase_I	Q6ZNE9	RUFY4_HUMAN		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	1564_1565	+		Renal(207;0.0915)	365					Q6ZR96	Frame_Shift_Ins	INS	ENST00000344321.7	37	c.1154_1155insG																																																																																					0.594	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198483		8	187						8	187	---	---	---	---
NYAP2	57624	broad.mit.edu	37	2	226447071	226447072	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:226447071_226447072insC	ENST00000272907.6	+	4	1351_1352	c.938_939insC	c.(937-942)tgccccfs	p.CP313fs	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	313	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												TCAGTGCCATGCCCCCCCAAGG	0.619																																						ENST00000272907.6																			0											c.(937-939)tccfs		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2																																				SO:0001589	frameshift_variant	57624							g.chr2:226447071_226447072insC	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.945dupC	2.37:g.226447078_226447078dupC	ENSP00000272907:p.Cys313fs		Somatic				NYAP2_ENST00000409269.2_Intron	p.S313fs	NM_020864.1	NP_065915.1	WXS	Illumina GAIIx	Phase_I	Q9P242	K1486_HUMAN			4	1351_1352	+			313			Pro-rich.		A2RRN4|Q96NL2	Frame_Shift_Ins	INS	ENST00000272907.6	37	c.938_939insC	CCDS46529.1																																																																																				0.619	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		11	163						11	163	---	---	---	---
DGKD	8527	broad.mit.edu	37	2	234365951	234365952	+	Frame_Shift_Ins	INS	-	-	G	rs35538077		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:234365951_234365952insG	ENST00000264057.2	+	21	2569_2570	c.2557_2558insG	c.(2557-2559)tggfs	p.W853fs	DGKD_ENST00000409813.3_Frame_Shift_Ins_p.W809fs	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	853					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AACCAACTTCTGGGGGGGTACC	0.579																																						ENST00000264057.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.(2557-2559)gggfs		diacylglycerol kinase, delta 130kDa	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234365951_234365952insG	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2564dupG	2.37:g.234365958_234365958dupG	ENSP00000264057:p.Trp853fs		Somatic				DGKD_ENST00000409813.3_Frame_Shift_Ins_p.G809fs	p.G853fs	NM_152879.2	NP_690618.2	WXS	Illumina GAIIx	Phase_I	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	21	2569_2570	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	853					Q14158|Q6PK55|Q8NG53	Frame_Shift_Ins	INS	ENST00000264057.2	37	c.2557_2558insG	CCDS2504.1																																																																																				0.579	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		7	157						7	157	---	---	---	---
SRGAP3	9901	broad.mit.edu	37	3	9034599	9034600	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:9034599_9034600insC	ENST00000383836.3	-	20	2975_2976	c.2548_2549insG	c.(2548-2550)gtgfs	p.V850fs	SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.V826fs	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	850					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCGGCCCATCACCCCCCCAAAG	0.554			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2548-2550)gatfs		SLIT-ROBO Rho GTPase activating protein 3																																				SO:0001589	frameshift_variant	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9034599_9034600insC	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2549dupG	3.37:g.9034606_9034606dupC	ENSP00000373347:p.Val850fs		Somatic				SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.D826fs	p.D850fs	NM_014850.3	NP_055665.1	WXS	Illumina GAIIx	Phase_I	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	20	2975_2976	-			850					Q8IX13|Q8IZV8	Frame_Shift_Ins	INS	ENST00000383836.3	37	c.2548_2549insG	CCDS2572.1																																																																																				0.554	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			7	107						7	107	---	---	---	---
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs375350046|rs369823368|rs146316187		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:10088407_10088410delAGTA	ENST00000419585.1	+	15	1439	c.1278delAGTA	c.(1276-1278)tta>tt	p.L426fs	FANCD2_ENST00000383807.1_Splice_Site_p.L426fs|FANCD2_ENST00000383806.1_Splice_Site_p.L426fs|FANCD2_ENST00000287647.3_Splice_Site_p.L426fs			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.e15+1	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2																																				SO:0001630	splice_region_variant	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10088407_10088410delAGTA	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1278+1AGTA>-	3.37:g.10088407_10088410delAGTA			Somatic				FANCD2_ENST00000383807.1_Splice_Site_p.426_splice|FANCD2_ENST00000419585.1_Splice_Site_p.426_splice|FANCD2_ENST00000383806.1_Splice_Site_p.426_splice	p.426_splice	NM_033084.3	NP_149075.2	WXS	Illumina GAIIx	Phase_I	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	15	1371	+			426					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Splice_Site	DEL	ENST00000419585.1	37	c.1278_splice	CCDS33696.1																																																																																				0.358	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		Frame_Shift_Del	11	28						11	28	---	---	---	---
NKTR	4820	broad.mit.edu	37	3	42679035	42679036	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_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		Somatic				RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	p.SP613fs	NM_005385.3	NP_005376.2	WXS	Illumina GAIIx	Phase_I	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		12	160						12	160	---	---	---	---
SEMA3B	7869	broad.mit.edu	37	3	50311901	50311902	+	RNA	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:50311901_50311902insG	ENST00000418948.1	+	0	1479_1480							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TCCTGCCCACTGGGGGGCGCCC	0.564											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000418948.1																			0				central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6								sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B																																						7869				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity	g.chr3:50311901_50311902insG	U28369	CCDS74941.1	3p21.3	2013-01-11			ENSG00000012171	ENSG00000012171		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10724	protein-coding gene	gene with protein product		601281		SEMAA		7748561, 8633026	Standard	NM_004636		Approved	SemA, semaV, LUCA-1, sema5	uc003cyu.3	Q13214	OTTHUMG00000156970		3.37:g.50311907_50311907dupG			Somatic	OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968					WXS	Illumina GAIIx	Phase_I	Q13214	SEM3B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	0	1479_1480	+								Q6GU46|Q8TB71|Q8TDV7|Q93018|Q96GX0	RNA	INS	ENST00000418948.1	37																																																																																						0.564	SEMA3B-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000346890.2	NM_001005914		7	132						7	132	---	---	---	---
ATXN7	6314	broad.mit.edu	37	3	63981831	63981832	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:63981831_63981832insC	ENST00000295900.6	+	12	2883_2884	c.2333_2334insC	c.(2332-2337)ggccccfs	p.GP778fs	ATXN7_ENST00000398590.3_Frame_Shift_Ins_p.GP778fs|ATXN7_ENST00000487717.1_Frame_Shift_Ins_p.GP778fs|ATXN7_ENST00000484332.1_Frame_Shift_Ins_p.GP633fs|ATXN7_ENST00000538065.1_Frame_Shift_Ins_p.GP778fs	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	778	Ser-rich.				cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TCAGGGAGGGGCCCCCCCACCG	0.545																																						ENST00000398590.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35						c.(2332-2334)gccfs		ataxin 7																																				SO:0001589	frameshift_variant	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63981831_63981832insC	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.2340dupC	3.37:g.63981838_63981838dupC	ENSP00000295900:p.Gly778fs		Somatic				ATXN7_ENST00000484332.1_Frame_Shift_Ins_p.A633fs|ATXN7_ENST00000538065.1_Frame_Shift_Ins_p.A778fs|ATXN7_ENST00000487717.1_Frame_Shift_Ins_p.A778fs|ATXN7_ENST00000295900.6_Frame_Shift_Ins_p.A778fs	p.A778fs	NM_001177387.1	NP_001170858.1	WXS	Illumina GAIIx	Phase_I	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	12	2886_2887	+		Prostate(884;0.0181)	778			Ser-rich.		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Frame_Shift_Ins	INS	ENST00000295900.6	37	c.2333_2334insC	CCDS43102.1																																																																																				0.545	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		7	97						7	97	---	---	---	---
GTF2E1	2960	broad.mit.edu	37	3	120469723	120469724	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:120469723_120469724delCC	ENST00000283875.5	+	2	417_418	c.324_325delCC	c.(322-327)gaccacfs	p.DH108fs		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	108					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		ATAAACTGGACCACATGAGAAG	0.421																																						ENST00000283875.5																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22						c.(322-327)gaacfs		general transcription factor IIE, polypeptide 1, alpha 56kDa																																				SO:0001589	frameshift_variant	2960				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	g.chr3:120469723_120469724delCC	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.324_325delCC	3.37:g.120469723_120469724delCC	ENSP00000283875:p.Asp108fs		Somatic					p.DH108fs	NM_005513.2	NP_005504.2	WXS	Illumina GAIIx	Phase_I	P29083	T2EA_HUMAN		GBM - Glioblastoma multiforme(114;0.159)	2	417_418	+			108					Q16103	Frame_Shift_Del	DEL	ENST00000283875.5	37	c.324_325delCC	CCDS3002.1																																																																																				0.421	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513		8	225						8	225	---	---	---	---
ZXDC	79364	broad.mit.edu	37	3	126180565	126180566	+	Frame_Shift_Ins	INS	-	-	G	rs201583972	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:126180565_126180566insG	ENST00000389709.3	-	6	1992_1993	c.1939_1940insC	c.(1939-1941)cgafs	p.R647fs	ZXDC_ENST00000336332.5_Frame_Shift_Ins_p.R647fs	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	647	Required for transcriptional activation.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		GGCATTTTCTCGGGGGGTGCTC	0.579																																						ENST00000389709.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(1939-1941)agafs		ZXD family zinc finger C																																				SO:0001589	frameshift_variant	79364				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:126180565_126180566insG	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.1940dupC	3.37:g.126180571_126180571dupG	ENSP00000374359:p.Arg647fs		Somatic				ZXDC_ENST00000336332.5_Frame_Shift_Ins_p.R647fs	p.R647fs	NM_025112.4	NP_079388.3	WXS	Illumina GAIIx	Phase_I	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	6	1992_1993	-			647			Required for transcriptional activation.		C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Frame_Shift_Ins	INS	ENST00000389709.3	37	c.1939_1940insC	CCDS43145.1																																																																																				0.579	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112		7	185						7	185	---	---	---	---
TMEM108	66000	broad.mit.edu	37	3	133098871	133098872	+	Frame_Shift_Ins	INS	-	-	C	rs143911768		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:133098871_133098872insC	ENST00000321871.6	+	4	526_527	c.316_317insC	c.(316-318)gccfs	p.A106fs	TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Frame_Shift_Ins_p.A106fs|TMEM108_ENST00000515826.1_Frame_Shift_Ins_p.A106fs	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	106	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GACAGTAACCGCCCCCCATTCT	0.673																																						ENST00000515826.1																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(316-318)cccfs		transmembrane protein 108																																				SO:0001589	frameshift_variant	66000					integral to membrane		g.chr3:133098871_133098872insC	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.322dupC	3.37:g.133098877_133098877dupC	ENSP00000324651:p.Ala106fs		Somatic				TMEM108_ENST00000321871.6_Frame_Shift_Ins_p.P106fs|TMEM108_ENST00000393130.3_Frame_Shift_Ins_p.P106fs|TMEM108_ENST00000508711.1_Intron	p.P106fs			WXS	Illumina GAIIx	Phase_I	Q6UXF1	TM108_HUMAN			3	439_440	+			106			Pro-rich.		D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Frame_Shift_Ins	INS	ENST00000321871.6	37	c.316_317insC	CCDS33858.1																																																																																				0.673	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		7	215						7	215	---	---	---	---
ATR	545	broad.mit.edu	37	3	142168328	142168328	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:142168328delT	ENST00000350721.4	-	47	7999	c.7878delA	c.(7876-7878)gaafs	p.E2626fs	XRN1_ENST00000544157.1_5'Flank|XRN1_ENST00000463916.1_5'Flank|XRN1_ENST00000264951.4_5'Flank|XRN1_ENST00000465074.1_5'Flank|ATR_ENST00000383101.3_Frame_Shift_Del_p.E2562fs|XRN1_ENST00000392981.2_5'Flank	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2626	FATC. {ECO:0000255|PROSITE- ProRule:PRU00534, ECO:0000255|PROSITE- ProRule:PRU00535}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CATCAGTAGCTTCCTGTATAA	0.348								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(7876-7878)gafs	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							121.0	117.0	118.0					3																	142168328		2203	4300	6503	SO:0001589	frameshift_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142168328delT	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7878delA	3.37:g.142168328delT	ENSP00000343741:p.Glu2626fs		Somatic				ATR_ENST00000383101.3_Frame_Shift_Del_p.E2562fs	p.E2626fs	NM_001184.3	NP_001175.2	WXS	Illumina GAIIx	Phase_I	Q13535	ATR_HUMAN			47	7999	-			2626			FATC.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Frame_Shift_Del	DEL	ENST00000350721.4	37	c.7878delA	CCDS3124.1																																																																																				0.348	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		40	87						40	87	---	---	---	---
LGI2	55203	broad.mit.edu	37	4	25005320	25005321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr4:25005320_25005321insC	ENST00000382114.4	-	8	1575_1576	c.1390_1391insG	c.(1390-1392)gccfs	p.A464fs		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	464						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CAGGGTCATGGCCCCCCGGGAT	0.515																																						ENST00000382114.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33						c.(1390-1392)catfs		leucine-rich repeat LGI family, member 2																																				SO:0001589	frameshift_variant	55203					extracellular region		g.chr4:25005320_25005321insC	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.1391dupG	4.37:g.25005326_25005326dupC	ENSP00000371548:p.Ala464fs		Somatic					p.H464fs	NM_018176.3	NP_060646.2	WXS	Illumina GAIIx	Phase_I	Q8N0V4	LGI2_HUMAN			8	1575_1576	-		Breast(46;0.173)	464					Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Frame_Shift_Ins	INS	ENST00000382114.4	37	c.1390_1391insG	CCDS3431.1																																																																																				0.515	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			7	339						7	339	---	---	---	---
CWH43	80157	broad.mit.edu	37	4	48988462	48988462	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr4:48988462delA	ENST00000226432.4	+	1	199	c.16delA	c.(16-18)agafs	p.R6fs	CWH43_ENST00000513409.1_5'Flank	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	6					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CTCGCTGTGGAGAGAAATCCT	0.721																																						ENST00000226432.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(16-18)gafs		cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)							14.0	16.0	15.0					4																	48988462		2152	4189	6341	SO:0001589	frameshift_variant	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:48988462delA		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.16delA	4.37:g.48988462delA	ENSP00000226432:p.Arg6fs		Somatic					p.R6fs	NM_025087.2	NP_079363.2	WXS	Illumina GAIIx	Phase_I	Q9H720	PG2IP_HUMAN			1	199	+			6					B2RPD7	Frame_Shift_Del	DEL	ENST00000226432.4	37	c.16delA	CCDS3486.1																																																																																				0.721	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		2	4						2	4	---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79238582	79238583	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr4:79238582_79238583insC	ENST00000325942.6	+	17	2320_2321	c.1880_1881insC	c.(1879-1884)agccccfs	p.SP627fs	FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.SP627fs|FRAS1_ENST00000264895.6_Frame_Shift_Ins_p.SP627fs	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	627					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACAGCCTGCAGCCCCCCCAAGG	0.574																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(1879-1881)accfs		Fraser syndrome 1																																				SO:0001589	frameshift_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79238582_79238583insC	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1887dupC	4.37:g.79238589_79238589dupC	ENSP00000326330:p.Ser627fs		Somatic				FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.T627fs|FRAS1_ENST00000325942.6_Frame_Shift_Ins_p.T627fs	p.T627fs	NM_025074.6	NP_079350.5	WXS	Illumina GAIIx	Phase_I	Q86XX4	FRAS1_HUMAN			17	2320_2321	+			627					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Frame_Shift_Ins	INS	ENST00000325942.6	37	c.1880_1881insC	CCDS54772.1																																																																																				0.574	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			9	153						9	153	---	---	---	---
HPGDS	27306	broad.mit.edu	37	4	95223320	95223321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr4:95223320_95223321insC	ENST00000295256.5	-	5	501_502	c.411_412insG	c.(409-414)gggagafs	p.R138fs	HPGDS_ENST00000514774.1_5'Flank	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	138	GST C-terminal.				arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|glutathione derivative biosynthetic process (GO:1901687)|locomotory behavior (GO:0007626)|prostaglandin metabolic process (GO:0006693)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	calcium ion binding (GO:0005509)|glutathione transferase activity (GO:0004364)|magnesium ion binding (GO:0000287)|prostaglandin-D synthase activity (GO:0004667)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	AGCCATTCTCTCCCCCCTAAAT	0.351																																					Colon(86;1802 1843 17863 46794)	ENST00000295256.5																			0				breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7						c.(409-414)gggagafs		hematopoietic prostaglandin D synthase	Glutathione(DB00143)																																			SO:0001589	frameshift_variant	27306				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity	g.chr4:95223320_95223321insC	D82073	CCDS3640.1	4q22.2	2012-06-21			ENSG00000163106	ENSG00000163106		"""Glutathione S-transferases / Soluble"""	17890	protein-coding gene	gene with protein product	"""glutathione S-transferase sigma"""	602598				9323136, 9353279, 11672424	Standard	XM_005262932		Approved	GSTS, PGDS, H-PGDS, PGD2, GSTS1-1	uc003hte.1	O60760	OTTHUMG00000130974	ENST00000295256.5:c.412dupG	4.37:g.95223326_95223326dupC	ENSP00000295256:p.Arg138fs		Somatic					p.R138fs	NM_014485.2	NP_055300.1	WXS	Illumina GAIIx	Phase_I	O60760	HPGDS_HUMAN			5	501_502	-			138			GST C-terminal.		Q6FHT9	Frame_Shift_Ins	INS	ENST00000295256.5	37	c.411_412insG	CCDS3640.1																																																																																				0.351	HPGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253587.1	NM_014485		7	617						7	617	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134071967	134071968	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr4:134071967_134071968insC	ENST00000264360.5	+	1	1498_1499	c.672_673insC	c.(673-675)cccfs	p.P225fs	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	225	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		gagcaggCCTGCCCCCCCAGCA	0.668																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(670-675)ctccccfs		protocadherin 10																																				SO:0001589	frameshift_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134071967_134071968insC	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.679dupC	4.37:g.134071974_134071974dupC	ENSP00000264360:p.Pro225fs		Somatic					p.LP224fs	NM_032961.1	NP_116586.1	WXS	Illumina GAIIx	Phase_I	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1498_1499	+			224			Cadherin 2.		Q4W5F6|Q96SF0	Frame_Shift_Ins	INS	ENST00000264360.5	37	c.672_673insC	CCDS34063.1																																																																																				0.668	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		9	76						9	76	---	---	---	---
MYO10	4651	broad.mit.edu	37	5	16694605	16694606	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:16694605_16694606insC	ENST00000513610.1	-	27	4128_4129	c.3674_3675insG	c.(3673-3675)ggcfs	p.G1225fs	MYO10_ENST00000515803.1_Frame_Shift_Ins_p.G564fs|MYO10_ENST00000505695.1_Frame_Shift_Ins_p.G564fs|MYO10_ENST00000427430.2_Frame_Shift_Ins_p.G582fs|MYO10_ENST00000274203.9_Frame_Shift_Ins_p.G582fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1225	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.S1226fs*25(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GCGTGGAGGAGCCCCCCCCTTT	0.564																																						ENST00000513610.1																			1	Insertion - Frameshift(1)	p.S1226fs*25(1)	pancreas(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(3673-3675)gtcfs		myosin X				37,3583		4,29,1777						2.5	1.0			84	28,7806		3,22,3892	no	frameshift	MYO10	NM_012334.2		7,51,5669	A1A1,A1R,RR		0.3574,1.0221,0.5675				65,11389				SO:0001589	frameshift_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16694605_16694606insC	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3675dupG	5.37:g.16694613_16694613dupC	ENSP00000421280:p.Gly1225fs		Somatic				MYO10_ENST00000274203.9_Frame_Shift_Ins_p.V582fs|MYO10_ENST00000515803.1_Frame_Shift_Ins_p.V564fs|MYO10_ENST00000427430.2_Frame_Shift_Ins_p.V582fs|MYO10_ENST00000505695.1_Frame_Shift_Ins_p.V564fs	p.V1225fs	NM_012334.2	NP_036466.2	WXS	Illumina GAIIx	Phase_I	Q9HD67	MYO10_HUMAN			27	4128_4129	-			1225			PH 1.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Frame_Shift_Ins	INS	ENST00000513610.1	37	c.3674_3675insG	CCDS54834.1																																																																																				0.564	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		23	216						23	216	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	31799656	31799657	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:31799656_31799657insG	ENST00000438447.1	+	2	689_690	c.301_302insG	c.(301-303)aggfs	p.R101fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.R101fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	101	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGAAAAGCGCAGGGGGGGCAAG	0.574																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(301-303)gggfs		PDZ domain containing 2																																				SO:0001589	frameshift_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31799656_31799657insG	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.308dupG	5.37:g.31799663_31799663dupG	ENSP00000402033:p.Arg101fs		Somatic				PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.G101fs	p.G101fs			WXS	Illumina GAIIx	Phase_I	O15018	PDZD2_HUMAN			2	689_690	+			101			PDZ 1.		Q9BXD4	Frame_Shift_Ins	INS	ENST00000438447.1	37	c.301_302insG	CCDS34137.1																																																																																				0.574	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			7	168						7	168	---	---	---	---
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(931-933)gggfs	p.G311fs	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.G311fs	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	311					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGGTGTGATTGGGGGGCAGCT	0.52																																						ENST00000265113.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41						c.(928-933)atggggfs		solute carrier family 1 (glial high affinity glutamate transporter), member 3	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36679798_36679799insG		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.936dupG	5.37:g.36679804_36679804dupG	ENSP00000265113:p.Gly311fs		Somatic				CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs	p.MG310fs	NM_004172.4	NP_004163.3	WXS	Illumina GAIIx	Phase_I	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1406_1407	+	all_lung(31;0.000245)		310					B2R5T3|Q4JCQ8	Frame_Shift_Ins	INS	ENST00000265113.4	37	c.930_931insG	CCDS3919.1																																																																																				0.520	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		8	795						8	795	---	---	---	---
FYB	2533	broad.mit.edu	37	5	39202090	39202091	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:39202090_39202091insC	ENST00000351578.6	-	2	1162_1163	c.972_973insG	c.(970-975)gggccafs	p.P325fs	FYB_ENST00000515010.1_Frame_Shift_Ins_p.P325fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.P325fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.P335fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.P325fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	325					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.P325A(3)|p.P335A(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGCCCCATGGCCCCCCCACTG	0.54																																						ENST00000351578.6																			4	Substitution - Missense(4)	p.P325A(3)|p.P335A(1)	kidney(4)	endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45						c.(970-975)ggcatgfs		FYN binding protein																																				SO:0001589	frameshift_variant	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39202090_39202091insC	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.973dupG	5.37:g.39202097_39202097dupC	ENSP00000316460:p.Pro325fs		Somatic				FYB_ENST00000512982.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000515010.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.M335fs	p.M325fs	NM_199335.3	NP_955367.1	WXS	Illumina GAIIx	Phase_I	O15117	FYB_HUMAN	Epithelial(62;0.235)		2	1162_1163	-	all_lung(31;0.000343)		325					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Frame_Shift_Ins	INS	ENST00000351578.6	37	c.972_973insG	CCDS47200.1																																																																																				0.540	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		8	183						8	183	---	---	---	---
PCSK1	5122	broad.mit.edu	37	5	95746639	95746640	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:95746639_95746640insC	ENST00000311106.3	-	8	1170_1171	c.933_934insG	c.(931-936)gggcgtfs	p.R312fs	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Frame_Shift_Ins_p.R265fs|PCSK1_ENST00000513085.1_Intron	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	312	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.R312C(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TCTCCCTGACGCCCCCCGTTTC	0.53																																						ENST00000311106.3																			1	Substitution - Missense(1)	p.R312C(1)	large_intestine(1)	NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(931-936)gggtcafs		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95746639_95746640insC		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.934dupG	5.37:g.95746645_95746645dupC	ENSP00000308024:p.Arg312fs		Somatic				PCSK1_ENST00000513085.1_Intron|PCSK1_ENST00000508626.1_Frame_Shift_Ins_p.S265fs|CTD-2337A12.1_ENST00000502645.2_RNA	p.S312fs	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	WXS	Illumina GAIIx	Phase_I	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	8	1170_1171	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	312			Catalytic.		B7Z8T7|E9PHA1|P78478|Q92532	Frame_Shift_Ins	INS	ENST00000311106.3	37	c.933_934insG	CCDS4081.1																																																																																				0.530	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		9	421						9	421	---	---	---	---
CHD1	1105	broad.mit.edu	37	5	98193965	98193966	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:98193965_98193966insT	ENST00000284049.3	-	34	4854_4855	c.4705_4706insA	c.(4705-4707)agtfs	p.S1569fs		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1569					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CCTGGAATCACTTTTTTTGTAA	0.406																																						ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(4705-4707)tgafs		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)																																			SO:0001589	frameshift_variant	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98193965_98193966insT	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4706dupA	5.37:g.98193972_98193972dupT	ENSP00000284049:p.Ser1569fs		Somatic					p.*1569fs	NM_001270.2	NP_001261.2	WXS	Illumina GAIIx	Phase_I	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	34	4854_4855	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1569					Q17RZ3	Frame_Shift_Ins	INS	ENST00000284049.3	37	c.4705_4706insA	CCDS34204.1																																																																																				0.406	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		7	383						7	383	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:127610310_127610311insC	ENST00000508053.1	-	66	8633_8634	c.7659_7660insG	c.(7657-7662)gggtttfs	p.F2554fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.F2554fs			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTACAGGTAAACCCCCCCAGGG	0.421																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(7657-7662)ggttacfs		fibrillin 2																																				SO:0001589	frameshift_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127610310_127610311insC	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7660dupG	5.37:g.127610317_127610317dupC	ENSP00000424571:p.Phe2554fs		Somatic				FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs	p.Y2554fs			WXS	Illumina GAIIx	Phase_I	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	66	8633_8634	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2554			EGF-like 43; calcium-binding.		B4DU01|Q59ES6	Frame_Shift_Ins	INS	ENST00000508053.1	37	c.7659_7660insG	CCDS34222.1																																																																																				0.421	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		11	361						11	361	---	---	---	---
TCF7	6932	broad.mit.edu	37	5	133473764	133473765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:133473764_133473765insC	ENST00000321584.4	+	4	652_653	c.456_457insC	c.(457-459)cccfs	p.P153fs	TCF7_ENST00000378564.1_Frame_Shift_Ins_p.P153fs|TCF7_ENST00000321603.6_Frame_Shift_Ins_p.P153fs|TCF7_ENST00000378560.4_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000395029.1_Frame_Shift_Ins_p.P153fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.P153fs|TCF7_ENST00000432532.2_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000518915.1_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000395023.1_Frame_Shift_Ins_p.P38fs			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	153					alpha-beta T cell differentiation (GO:0046632)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cellular response to interleukin-4 (GO:0071353)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|generation of neurons (GO:0048699)|immune response (GO:0006955)|neural tube development (GO:0021915)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor V(D)J recombination (GO:0033153)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGCCAATCAGCCCCCCCACGG	0.574																																						ENST00000395029.1																			0				kidney(2)|large_intestine(7)|lung(2)|skin(1)	12						c.(454-459)caccccfs		transcription factor 7 (T-cell specific, HMG-box)																																				SO:0001589	frameshift_variant	6932				cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding	g.chr5:133473764_133473765insC	Z47362	CCDS4169.1, CCDS4170.1, CCDS43362.1, CCDS47263.1, CCDS47263.2	5q31	2008-02-05			ENSG00000081059	ENSG00000081059			11639	protein-coding gene	gene with protein product		189908					Standard	NM_003202		Approved	TCF-1	uc003kyt.3	P36402	OTTHUMG00000129124	ENST00000321584.4:c.463dupC	5.37:g.133473771_133473771dupC	ENSP00000326540:p.Pro153fs		Somatic				TCF7_ENST00000518915.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000432532.2_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000378560.4_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000378564.1_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000321603.6_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000395023.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000321584.4_Frame_Shift_Ins_p.HP152fs	p.HP152fs			WXS	Illumina GAIIx	Phase_I	P36402	TCF7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	651_652	+		Breast(839;0.058)	152					B3KSH3|Q86WR9|Q9UKI4	Frame_Shift_Ins	INS	ENST00000321584.4	37	c.456_457insC																																																																																					0.574	TCF7-201	KNOWN	basic	protein_coding	protein_coding		NM_201634		11	225						11	225	---	---	---	---
PSD2	84249	broad.mit.edu	37	5	139193287	139193288	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:139193287_139193288insG	ENST00000274710.3	+	3	970_971	c.765_766insG	c.(766-768)gggfs	p.G256fs		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	256					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGGGCCCAGGGGGGGATGA	0.614																																						ENST00000274710.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38						c.(763-768)ccggggfs		pleckstrin and Sec7 domain containing 2																																				SO:0001589	frameshift_variant	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139193287_139193288insG	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.772dupG	5.37:g.139193294_139193294dupG	ENSP00000274710:p.Gly256fs		Somatic					p.PG255fs	NM_032289.2	NP_115665.1	WXS	Illumina GAIIx	Phase_I	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	970_971	+			255					D3DQD3|Q8N3J8	Frame_Shift_Ins	INS	ENST00000274710.3	37	c.765_766insG	CCDS4216.1																																																																																				0.614	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		7	295						7	295	---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140588663	140588664	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:140588663_140588664insG	ENST00000239450.2	+	1	373_374	c.184_185insG	c.(184-186)cggfs	p.R62fs	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	62	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGTCTTCGCGGGGGGCTCGG	0.51																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(184-186)gggfs						0,4264		0,0,2132						0.4	0.0			90	1,8253		0,1,4126	no	frameshift	PCDHB12	NM_018932.3		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12517				SO:0001589	frameshift_variant	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140588663_140588664insG	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.190dupG	5.37:g.140588669_140588669dupG	ENSP00000239450:p.Arg62fs		Somatic				PCDHB12_ENST00000541609.1_Intron	p.G62fs	NM_018932.3	NP_061755.1	WXS	Illumina GAIIx	Phase_I	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	373_374	+			62			Cadherin 1.		B4DDU1	Frame_Shift_Ins	INS	ENST00000239450.2	37	c.184_185insG	CCDS4254.1																																																																																				0.510	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		7	276						7	276	---	---	---	---
FCHSD1	89848	broad.mit.edu	37	5	141024642	141024643	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:141024642_141024643insG	ENST00000435817.2	-	14	1434_1435	c.1384_1385insC	c.(1384-1386)caafs	p.Q462fs	FCHSD1_ENST00000522783.1_Frame_Shift_Ins_p.Q388fs|FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522126.1_Frame_Shift_Ins_p.Q386fs	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	462									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCAGGGCTTGGGGGGCAGGC	0.589																																						ENST00000435817.2																		FCHSD1/BRAF(2)	0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1384-1386)agcfs		FCH and double SH3 domains 1																																				SO:0001589	frameshift_variant	89848							g.chr5:141024642_141024643insG	AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.1385dupC	5.37:g.141024648_141024648dupG	ENSP00000399259:p.Gln462fs		Somatic				FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_Frame_Shift_Ins_p.S388fs|FCHSD1_ENST00000522126.1_Frame_Shift_Ins_p.S386fs	p.S462fs	NM_033449.2	NP_258260.1	WXS	Illumina GAIIx	Phase_I	Q86WN1	FCSD1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		14	1434_1435	-			462					Q6UX75|Q86Y77|Q9NXX8	Frame_Shift_Ins	INS	ENST00000435817.2	37	c.1384_1385insC	CCDS47295.1																																																																																				0.589	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375282.2	NM_033449		7	231						7	231	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)gggaggfs	p.R763fs	ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.R665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.R425fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	763					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGCTGGATCCTCCCCCCAGCGA	0.579																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(2284-2289)ggggatfs		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3																																				SO:0001589	frameshift_variant	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141049341_141049342insC	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2287dupG	5.37:g.141049347_141049347dupC	ENSP00000239440:p.Arg763fs		Somatic				ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs	p.D763fs	NM_022481.5	NP_071926.4	WXS	Illumina GAIIx	Phase_I	Q8WWN8	ARAP3_HUMAN			16	2351_2352	-			763					B4DIT1|D3DQE3	Frame_Shift_Ins	INS	ENST00000239440.4	37	c.2286_2287insG	CCDS4266.1																																																																																				0.579	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		8	924						8	924	---	---	---	---
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G	rs199646351		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:141336747_141336748insG	ENST00000231484.3	-	1	1879_1880	c.669_670insC	c.(667-672)cccaagfs	p.K224fs	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	224	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCTGACTTGGGGGGGTTCC	0.48																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(667-672)ccagtcfs		protocadherin 12				5,4259		0,5,2127						5.1	1.0			79	6,8238		0,6,4116	no	frameshift	PCDH12	NM_016580.2		0,11,6243	A1A1,A1R,RR		0.0728,0.1173,0.0879				11,12497				SO:0001589	frameshift_variant	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141336747_141336748insG	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.670dupC	5.37:g.141336754_141336754dupG	ENSP00000231484:p.Lys224fs		Somatic					p.V224fs	NM_016580.2	NP_057664.1	WXS	Illumina GAIIx	Phase_I	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1879_1880	-		all_hematologic(541;0.0999)	224			Cadherin 2.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Frame_Shift_Ins	INS	ENST00000231484.3	37	c.669_670insC	CCDS4269.1																																																																																				0.480	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		19	489						19	489	---	---	---	---
SPRY4	81848	broad.mit.edu	37	5	141694153	141694154	+	Frame_Shift_Ins	INS	-	-	G	rs369403370|rs144353509		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:141694153_141694154insG	ENST00000434127.2	-	2	763_764	c.520_521insC	c.(520-522)cggfs	p.R174fs	SPRY4_ENST00000344120.4_Frame_Shift_Ins_p.R197fs|SPRY4_ENST00000503582.1_5'Flank	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	174	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCAACGTCCGGGGGGATGCA	0.609									Testicular Cancer, Familial Clustering of																													ENST00000344120.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18						c.(589-591)gacfs		sprouty homolog 4 (Drosophila)																																				SO:0001589	frameshift_variant	81848	Testicular Cancer, Familial Clustering of	Familial Cancer Database		multicellular organismal development	cytoplasm|ruffle membrane	protein binding	g.chr5:141694153_141694154insG	AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.521dupC	5.37:g.141694159_141694159dupG	ENSP00000399468:p.Arg174fs		Somatic				SPRY4_ENST00000434127.2_Frame_Shift_Ins_p.D174fs	p.D197fs	NM_030964.3	NP_112226.2	WXS	Illumina GAIIx	Phase_I	Q9C004	SPY4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	775_776	-		all_hematologic(541;0.118)	174			Cys-rich.|SPR.		A4FVB2|A4FVB3|Q6QIX2|Q9C003	Frame_Shift_Ins	INS	ENST00000434127.2	37	c.589_590insC	CCDS47296.1																																																																																				0.609	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1			8	683						8	683	---	---	---	---
LARS	51520	broad.mit.edu	37	5	145523013	145523014	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:145523013_145523014insC	ENST00000394434.2	-	19	2004_2005	c.1838_1839insG	c.(1837-1839)ggtfs	p.G613fs	LARS_ENST00000510191.1_Frame_Shift_Ins_p.G559fs|LARS_ENST00000274562.9_Frame_Shift_Ins_p.G586fs|LARS_ENST00000545646.1_Frame_Shift_Ins_p.G567fs	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	613					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CATGCAAGTTACCCCCCTGCAA	0.45																																						ENST00000394434.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34						c.(1837-1839)gaafs		leucyl-tRNA synthetase	L-Leucine(DB00149)																																			SO:0001589	frameshift_variant	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145523013_145523014insC	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.1839dupG	5.37:g.145523019_145523019dupC	ENSP00000377954:p.Gly613fs		Somatic				LARS_ENST00000510191.1_Frame_Shift_Ins_p.E559fs|LARS_ENST00000274562.9_Frame_Shift_Ins_p.E586fs|LARS_ENST00000545646.1_Frame_Shift_Ins_p.E567fs	p.E613fs	NM_020117.9	NP_064502.9	WXS	Illumina GAIIx	Phase_I	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		19	2004_2005	-			613					A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Frame_Shift_Ins	INS	ENST00000394434.2	37	c.1838_1839insG	CCDS34265.1																																																																																				0.450	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		8	1048						8	1048	---	---	---	---
LARP1	23367	broad.mit.edu	37	5	154181821	154181822	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:154181821_154181822insG	ENST00000336314.4	+	11	1764_1765	c.1740_1741insG	c.(1741-1743)gggfs	p.G581fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	658					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCGGCACCCAGGGGGGGACCG	0.55																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1738-1743)ccggggfs		La ribonucleoprotein domain family, member 1																																				SO:0001589	frameshift_variant	23367						protein binding|RNA binding	g.chr5:154181821_154181822insG	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1747dupG	5.37:g.154181828_154181828dupG	ENSP00000336721:p.Gly581fs		Somatic					p.PG580fs	NM_015315.3	NP_056130.2	WXS	Illumina GAIIx	Phase_I	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		11	1764_1765	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	657					O94836|Q8N4M2|Q8NB73|Q9UFD7	Frame_Shift_Ins	INS	ENST00000336314.4	37	c.1740_1741insG	CCDS4328.1																																																																																				0.550	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		11	506						11	506	---	---	---	---
KIAA1191	57179	broad.mit.edu	37	5	175774701	175774702	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:175774701_175774702insG	ENST00000298569.4	-	9	1352_1353	c.819_820insC	c.(817-822)cccaagfs	p.K274fs	KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.K255fs|KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.K274fs|RP11-843P14.2_ENST00000508187.1_RNA	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191	274						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		ATGTCCATCTTGGGGGGCTTCA	0.579																																						ENST00000298569.4																			0				endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(817-822)ccagatfs		KIAA1191																																				SO:0001589	frameshift_variant	57179						protein binding	g.chr5:175774701_175774702insG	BC010448	CCDS4399.1, CCDS43402.1, CCDS75373.1	5q35.2	2008-02-05			ENSG00000122203	ENSG00000122203			29209	protein-coding gene	gene with protein product						10574461, 10565538	Standard	XM_005265941		Approved	FLJ21022	uc003mdy.3	Q96A73	OTTHUMG00000130656	ENST00000298569.4:c.820dupC	5.37:g.175774707_175774707dupG	ENSP00000298569:p.Lys274fs		Somatic				KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.D274fs|KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.D255fs|KIAA1191_ENST00000393728.2_5'UTR	p.D274fs	NM_020444.3	NP_065177.2	WXS	Illumina GAIIx	Phase_I	Q96A73	K1191_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)	9	1352_1353	-	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	274					B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9	Frame_Shift_Ins	INS	ENST00000298569.4	37	c.819_820insC	CCDS4399.1																																																																																				0.579	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253146.2	NM_020444		11	594						11	594	---	---	---	---
WRNIP1	56897	broad.mit.edu	37	6	2785351	2785352	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:2785351_2785352insC	ENST00000380773.4	+	7	2042_2043	c.1833_1834insC	c.(1834-1836)cccfs	p.P612fs	WRNIP1_ENST00000380764.1_Frame_Shift_Ins_p.P228fs|WRNIP1_ENST00000380769.4_Frame_Shift_Ins_p.P392fs|WRNIP1_ENST00000380771.4_Frame_Shift_Ins_p.P587fs	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				AGGGGCCACTGCCCCCCGTGCC	0.584																																						ENST00000380769.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(1171-1176)ctccccfs		Werner helicase interacting protein 1																																				SO:0001589	frameshift_variant	56897				DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding	g.chr6:2785351_2785352insC	AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"""ATPases / AAA-type"""	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1839dupC	6.37:g.2785357_2785357dupC	ENSP00000370150:p.Pro612fs		Somatic				WRNIP1_ENST00000380773.4_Frame_Shift_Ins_p.LP611fs|WRNIP1_ENST00000380771.4_Frame_Shift_Ins_p.LP586fs|WRNIP1_ENST00000380764.1_Frame_Shift_Ins_p.LP227fs	p.LP391fs			WXS	Illumina GAIIx	Phase_I	Q96S55	WRIP1_HUMAN			7	1404_1405	+	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	611						Frame_Shift_Ins	INS	ENST00000380773.4	37	c.1173_1174insC	CCDS4475.1																																																																																				0.584	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039641.1	NM_130395		7	228						7	228	---	---	---	---
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Intron	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:10557409_10557410insC	ENST00000379597.3	+	1	1481				GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000316170.3_Frame_Shift_Ins_p.P252fs|GCNT2_ENST00000410107.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGAAACCGCCTCCCCCCCATAA	0.485																																						ENST00000316170.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(751-756)ccccccfs		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)																																				SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10557409_10557410insC	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+27340->C	6.37:g.10557416_10557416dupC			Somatic				GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron	p.PP251fs	NM_001491.2	NP_001482.1	WXS	Illumina GAIIx	Phase_I	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	1170_1171	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	253						Frame_Shift_Ins	INS	ENST00000379597.3	37	c.753_754insC	CCDS34338.1																																																																																				0.485	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		14	352						14	352	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-756)gtggggfs	p.VG251fs	PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.VG106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.VG251fs|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(751-753)gggfs		phosphatase and actin regulator 1																																				SO:0001589	frameshift_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13206134_13206135insG	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.759dupG	6.37:g.13206141_13206141dupG	ENSP00000368655:p.Val251fs		Somatic				PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs	p.G251fs			WXS	Illumina GAIIx	Phase_I	Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		7	881_882	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	251					A8K1V2|Q3MJ93|Q5JSJ2	Frame_Shift_Ins	INS	ENST00000379350.1	37	c.752_753insG																																																																																					0.599	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		15	320						15	320	---	---	---	---
NRSN1	140767	broad.mit.edu	37	6	24145844	24145845	+	Frame_Shift_Ins	INS	-	-	C	rs577436927		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:24145844_24145845insC	ENST00000378491.4	+	4	559_560	c.258_259insC	c.(259-261)cccfs	p.P87fs		NM_080723.4	NP_542454.3			neurensin 1											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GCTTTCTTGTGCCCCCCAAAAT	0.485																																						ENST00000378491.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						c.(256-261)gtccccfs		neurensin 1																																				SO:0001589	frameshift_variant	140767				nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		g.chr6:24145844_24145845insC	AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"""vesicular membrane protein p24"""	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.264dupC	6.37:g.24145850_24145850dupC	ENSP00000367752:p.Pro87fs		Somatic					p.VP86fs	NM_080723.4	NP_542454.3	WXS	Illumina GAIIx	Phase_I	Q8IZ57	NRSN1_HUMAN			4	559_560	+			86						Frame_Shift_Ins	INS	ENST00000378491.4	37	c.258_259insC	CCDS4549.1																																																																																				0.485	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	NM_080723		10	286						10	286	---	---	---	---
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)gcafs	p.A324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.A77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411																																						ENST00000378454.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(970-972)agcfs		doublecortin domain containing 2			,	0,4262		0,0,2131					,	6.1	1.0			246	1,8253		0,1,4126	no	frameshift,frameshift	DCDC2	NM_016356.3,NM_001195610.1	,	0,1,6257	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12515				SO:0001589	frameshift_variant	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24205282_24205283insC	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.971dupG	6.37:g.24205288_24205288dupC	ENSP00000367715:p.Ala324fs		Somatic				DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	p.S324fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	WXS	Illumina GAIIx	Phase_I	Q9UHG0	DCDC2_HUMAN			8	1271_1272	-		Ovarian(999;0.101)	324					Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Frame_Shift_Ins	INS	ENST00000378454.3	37	c.970_971insG	CCDS4550.1																																																																																				0.411	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		10	1276						10	1276	---	---	---	---
MOG	4340	broad.mit.edu	37	6	29627216	29627217	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:29627216_29627217insC	ENST00000376917.3	+	2	438_439	c.209_210insC	c.(208-213)cgccccfs	p.RP70fs	MOG_ENST00000396701.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376898.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376894.4_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000490427.1_Intron|MOG_ENST00000376888.2_Intron|MOG_ENST00000396704.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000416766.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000431798.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000483013.1_Intron|MOG_ENST00000533330.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376902.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000494692.1_Frame_Shift_Ins_p.RP70fs	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	70	Ig-like V-type.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F73fs*29(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGGTGGTACCGCCCCCCCTTCT	0.569																																						ENST00000376894.4																			1	Deletion - Frameshift(1)	p.F73fs*29(1)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						c.(208-210)cccfs		myelin oligodendrocyte glycoprotein																																				SO:0001589	frameshift_variant	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29627216_29627217insC		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.216dupC	6.37:g.29627223_29627223dupC	ENSP00000366115:p.Arg70fs		Somatic				MOG_ENST00000483013.1_Intron|MOG_ENST00000431798.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000376898.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376902.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396704.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376917.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396701.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000533330.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000494692.1_Frame_Shift_Ins_p.P70fs|MOG_ENST00000490427.1_Intron|MOG_ENST00000469603.1_3'UTR	p.P70fs			WXS	Illumina GAIIx	Phase_I	Q16653	MOG_HUMAN			2	327_328	+			70			Ig-like V-type.		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Frame_Shift_Ins	INS	ENST00000376917.3	37	c.209_210insC	CCDS34370.1																																																																																				0.569	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		11	315						11	315	---	---	---	---
RNF39	80352	broad.mit.edu	37	6	30040952	30040952	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:30040952delT	ENST00000244360.6	-	3	761	c.664delA	c.(664-666)atgfs	p.M222fs	RNF39_ENST00000376751.3_Frame_Shift_Del_p.M222fs	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	222	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										CTATGAAGCATTTTTTTGACC	0.408																																					NSCLC(8;188 360 1520 20207 31481)	ENST00000244360.6																			0											c.(664-666)tgfs		ring finger protein 39							140.0	134.0	136.0					6																	30040952		1511	2709	4220	SO:0001589	frameshift_variant	80352					cytoplasm	zinc ion binding	g.chr6:30040952delT	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"""RING-type (C3HC4) zinc fingers"""	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.664delA	6.37:g.30040952delT	ENSP00000244360:p.Met222fs		Somatic				RNF39_ENST00000376751.3_Frame_Shift_Del_p.M222fs	p.M222fs	NM_025236.3	NP_079512.2	WXS	Illumina GAIIx	Phase_I	Q9H2S5	RNF39_HUMAN			3	761	-			222			B30.2/SPRY.		A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Frame_Shift_Del	DEL	ENST00000244360.6	37	c.664delA	CCDS4673.1																																																																																				0.408	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769		8	1069						8	1069	---	---	---	---
ATAT1	79969	broad.mit.edu	37	6	30610713	30610714	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:30610713_30610714insC	ENST00000376485.4	+	10	923_924	c.893_894insC	c.(892-897)tgccccfs	p.CP298fs	ATAT1_ENST00000318999.7_Frame_Shift_Ins_p.CP275fs|ATAT1_ENST00000329992.8_Frame_Shift_Ins_p.CP298fs|ATAT1_ENST00000330083.5_Frame_Shift_Ins_p.CP286fs|ATAT1_ENST00000319027.5_Frame_Shift_Ins_p.CP275fs|ATAT1_ENST00000376483.4_Frame_Shift_Ins_p.CP298fs|ATAT1_ENST00000376478.2_Frame_Shift_Ins_p.CP275fs|ATAT1_ENST00000468713.1_Intron					alpha tubulin acetyltransferase 1											cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						TTGCGCCTCTGCCCCCCACACC	0.658																																						ENST00000376483.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(892-894)tccfs		alpha tubulin acetyltransferase 1																																				SO:0001589	frameshift_variant	79969						tubulin N-acetyltransferase activity	g.chr6:30610713_30610714insC	AK023220	CCDS4683.2, CCDS54978.1, CCDS59002.1	6p21.32	2014-06-17	2010-10-11	2010-10-11	ENSG00000137343	ENSG00000137343	2.3.1.108		21186	protein-coding gene	gene with protein product	"""alpha-tubulin N-acetyltransferase"""	615556	"""chromosome 6 open reading frame 134"""	C6orf134		20829795	Standard	NM_024909		Approved	FLJ13158, Em:AB023049.7, MEC17	uc003nqv.3	Q5SQI0	OTTHUMG00000031219	ENST00000376485.4:c.899dupC	6.37:g.30610719_30610719dupC	ENSP00000365668:p.Cys298fs		Somatic				ATAT1_ENST00000329992.8_Frame_Shift_Ins_p.S298fs|ATAT1_ENST00000319027.5_Frame_Shift_Ins_p.S275fs|ATAT1_ENST00000330083.5_Frame_Shift_Ins_p.S286fs|ATAT1_ENST00000376485.4_Frame_Shift_Ins_p.S298fs|ATAT1_ENST00000376478.2_Frame_Shift_Ins_p.S275fs|ATAT1_ENST00000468713.1_Intron|ATAT1_ENST00000318999.7_Frame_Shift_Ins_p.S275fs	p.S298fs			WXS	Illumina GAIIx	Phase_I	Q5SQI0	ATAT_HUMAN			10	903_904	+			298						Frame_Shift_Ins	INS	ENST00000376485.4	37	c.893_894insC																																																																																					0.658	ATAT1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076449.2	NM_024909		9	500						9	500	---	---	---	---
BAG6	7917	broad.mit.edu	37	6	31617054	31617055	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:31617054_31617055insG	ENST00000375964.6	-	4	657_658	c.344_345insC	c.(343-345)cctfs	p.P115fs	BAG6_ENST00000375976.4_Frame_Shift_Ins_p.P115fs|BAG6_ENST00000362049.6_Frame_Shift_Ins_p.P115fs|BAG6_ENST00000211379.5_Frame_Shift_Ins_p.P115fs|BAG6_ENST00000404765.2_Frame_Shift_Ins_p.P115fs|BAG6_ENST00000439687.2_Frame_Shift_Ins_p.P115fs	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	115					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)	p.P115fs*53(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CCCGAGTACCAGGGGGGGATCC	0.594																																						ENST00000404765.2																			1	Deletion - Frameshift(1)	p.P115fs*53(1)	lung(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.(343-345)cggfs		BCL2-associated athanogene 6																																				SO:0001589	frameshift_variant	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31617054_31617055insG	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.345dupC	6.37:g.31617061_31617061dupG	ENSP00000365131:p.Pro115fs		Somatic				BAG6_ENST00000375976.4_Frame_Shift_Ins_p.R115fs|BAG6_ENST00000375964.6_Frame_Shift_Ins_p.R115fs|BAG6_ENST00000362049.6_Frame_Shift_Ins_p.R115fs|BAG6_ENST00000211379.5_Frame_Shift_Ins_p.R115fs|BAG6_ENST00000439687.2_Frame_Shift_Ins_p.R115fs	p.R115fs			WXS	Illumina GAIIx	Phase_I	P46379	BAG6_HUMAN			4	633_634	-			115					A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Frame_Shift_Ins	INS	ENST00000375964.6	37	c.344_345insC	CCDS47403.1																																																																																				0.594	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		7	181						7	181	---	---	---	---
LY6G6C	80740	broad.mit.edu	37	6	31692528	31692529	+	5'Flank	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:31692528_31692529insC	ENST00000375819.2	-	0	0				C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.P153fs|C6orf25_ENST00000480039.1_Intron|DDAH2_ENST00000480913.1_5'Flank|C6orf25_ENST00000375809.3_Frame_Shift_Ins_p.S183fs|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.S183fs	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						TTCAGCTCTGTCCCCCCCACAT	0.579																																						ENST00000375809.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						c.(547-549)cccfs		chromosome 6 open reading frame 25			,,,,,	3,4261		0,3,2129					,,,,,	1.1	1.0			67	4,8248		0,4,4122	no	frameshift,intron,frameshift,frameshift,intron,frameshift	C6orf25	NM_138277.2,NM_138275.2,NM_138274.2,NM_138273.2,NM_138272.2,NM_025260.3	,,,,,	0,7,6251	A1A1,A1R,RR		0.0485,0.0704,0.0559	,,,,,	,,,,,		7,12509				SO:0001631	upstream_gene_variant	80739					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity	g.chr6:31692528_31692529insC		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"""chromosome 6 open reading frame 24"""	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251		6.37:g.31692535_31692535dupC	Exception_encountered		Somatic				C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs	p.P183fs	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	WXS	Illumina GAIIx	Phase_I	O95866	G6B_HUMAN			5	558_559	+			0					Q5SRS8|Q8IY94	Frame_Shift_Ins	INS	ENST00000375819.2	37	c.547_548insC	CCDS4714.1																																																																																				0.579	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076530.2			11	523						11	523	---	---	---	---
VARS	7407	broad.mit.edu	37	6	31759454	31759455	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:31759454_31759455insG	ENST00000375663.3	-	8	1472_1473	c.1032_1033insC	c.(1030-1035)cccaatfs	p.N345fs	VARS_ENST00000444930.2_Frame_Shift_Ins_p.N50fs	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	345					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CCTGTCACATTGGGGGGTGGGA	0.564																																						ENST00000375663.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(1030-1035)ccatgtfs		valyl-tRNA synthetase	L-Valine(DB00161)																																			SO:0001589	frameshift_variant	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31759454_31759455insG	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.1033dupC	6.37:g.31759460_31759460dupG	ENSP00000364815:p.Asn345fs		Somatic				VARS_ENST00000444930.2_Frame_Shift_Ins_p.C50fs	p.C345fs	NM_006295.2	NP_006286.1	WXS	Illumina GAIIx	Phase_I	P26640	SYVC_HUMAN			8	1472_1473	-			345					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Frame_Shift_Ins	INS	ENST00000375663.3	37	c.1032_1033insC	CCDS34412.1																																																																																				0.564	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		12	340						12	340	---	---	---	---
C2	717	broad.mit.edu	37	6	31911214	31911215	+	Frame_Shift_Ins	INS	-	-	G	rs544657195	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:31911214_31911215insG	ENST00000299367.5	+	12	1753_1754	c.1477_1478insG	c.(1477-1479)cggfs	p.R493fs	C2_ENST00000452323.2_Frame_Shift_Ins_p.R279fs|CFB_ENST00000556679.1_Frame_Shift_Ins_p.R340fs|CFB_ENST00000425368.2_5'Flank|C2_ENST00000469372.1_Frame_Shift_Ins_p.R247fs|C2_ENST00000442278.2_Frame_Shift_Ins_p.R361fs|CFB_ENST00000477310.1_Frame_Shift_Ins_p.R264fs|CFB_ENST00000456570.1_Frame_Shift_Ins_p.R340fs	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	493	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		AGAGACCTGCCGGGGGGCCCTC	0.589																																						ENST00000456570.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(1018-1020)gggfs		complement factor B																																				SO:0001589	frameshift_variant	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31911214_31911215insG		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.1483dupG	6.37:g.31911220_31911220dupG	ENSP00000299367:p.Arg493fs		Somatic				C2_ENST00000442278.2_Frame_Shift_Ins_p.G361fs|C2_ENST00000469372.1_Frame_Shift_Ins_p.G247fs|CFB_ENST00000556679.1_Frame_Shift_Ins_p.G340fs|C2_ENST00000452323.2_Frame_Shift_Ins_p.G279fs|CFB_ENST00000477310.1_Frame_Shift_Ins_p.G264fs|C2_ENST00000299367.5_Frame_Shift_Ins_p.G493fs	p.G340fs			WXS	Illumina GAIIx	Phase_I	P00751	CFAB_HUMAN			9	1073_1074	+			512			VWFA.		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Frame_Shift_Ins	INS	ENST00000299367.5	37	c.1018_1019insG	CCDS4728.1																																																																																				0.589	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			7	363						7	363	---	---	---	---
FKBPL	63943	broad.mit.edu	37	6	32097085	32097086	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:32097085_32097086insC	ENST00000375156.3	-	2	742_743	c.472_473insG	c.(472-474)gagfs	p.E158fs	ATF6B_ENST00000375201.4_5'Flank|ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375203.3_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	158					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)										CTCTATGAGCTCCCCCCAAGTT	0.589																																						ENST00000375156.3																			0											c.(472-474)gctfs		FK506 binding protein like																																				SO:0001589	frameshift_variant	63943				response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:32097085_32097086insC	AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"""Tetratricopeptide (TTC) repeat domain containing"""	13949	protein-coding gene	gene with protein product	"""WAF-1/CIP1 stabilizing protein 39"""		"""FK506-binding protein like"""			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.473dupG	6.37:g.32097091_32097091dupC	ENSP00000364298:p.Glu158fs		Somatic					p.A158fs	NM_022110.3	NP_071393.2	WXS	Illumina GAIIx	Phase_I	Q9UIM3	FKBPL_HUMAN			2	742_743	-			158					A8K5V3|B0UYX8|Q9H5G3	Frame_Shift_Ins	INS	ENST00000375156.3	37	c.472_473insG	CCDS4738.1																																																																																				0.589	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2			10	393						10	393	---	---	---	---
UHRF1BP1	54887	broad.mit.edu	37	6	34839368	34839369	+	Frame_Shift_Ins	INS	-	-	C	rs377382227		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:34839368_34839369insC	ENST00000192788.5	+	19	4160_4161	c.3989_3990insC	c.(3988-3993)atccccfs	p.IP1330fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.IP1330fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1330							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CAGGATGATATCCCCCCCATCT	0.515																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(3988-3990)accfs		UHRF1 binding protein 1																																				SO:0001589	frameshift_variant	54887							g.chr6:34839368_34839369insC	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3996dupC	6.37:g.34839375_34839375dupC	ENSP00000192788:p.Ile1330fs		Somatic				UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.T1330fs	p.T1330fs	NM_017754.3	NP_060224.3	WXS	Illumina GAIIx	Phase_I	Q6BDS2	URFB1_HUMAN			19	4160_4161	+			1330					Q9NXE0	Frame_Shift_Ins	INS	ENST00000192788.5	37	c.3989_3990insC	CCDS43455.1																																																																																				0.515	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		11	196						11	196	---	---	---	---
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C	rs587778337		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:35425714_35425715insC	ENST00000229769.2	+	4	1107_1108	c.922_923insC	c.(922-924)gccfs	p.A308fs		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	308	Interaction with FANCC.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATTGGAGGATGCCCCCCCAGTT	0.54			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000229769.2			yes	Rec		Fanconi anaemia E	6	6p21-p22	2178	"""N, F, S"""	"""Fanconi anemia, complementation group E"""			L		"""AML, leukemia"""			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						c.(922-924)cccfs	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group E				16,4248		0,16,2116						-5.8	0.0		dbSNP_130	75	14,8240		0,14,4113	no	frameshift	FANCE	NM_021922.2		0,30,6229	A1A1,A1R,RR		0.1696,0.3752,0.2397				30,12488				SO:0001589	frameshift_variant	2178	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr6:35425714_35425715insC	AF265210	CCDS4805.1	6p22-p21	2014-09-17			ENSG00000112039	ENSG00000112039		"""Fanconi anemia, complementation groups"""	3586	protein-coding gene	gene with protein product		613976		FACE		7662964, 11001585	Standard	XM_005248885		Approved	FAE	uc003oko.1	Q9HB96	OTTHUMG00000014565	ENST00000229769.2:c.929dupC	6.37:g.35425721_35425721dupC	ENSP00000229769:p.Ala308fs		Somatic					p.P308fs	NM_021922.2	NP_068741.1	WXS	Illumina GAIIx	Phase_I	Q9HB96	FANCE_HUMAN			4	1107_1108	+			308			Interaction with FANCC.		A8K907|Q4ZGH2	Frame_Shift_Ins	INS	ENST00000229769.2	37	c.922_923insC	CCDS4805.1																																																																																				0.540	FANCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040282.1			10	214						10	214	---	---	---	---
TRERF1	55809	broad.mit.edu	37	6	42237000	42237001	+	Frame_Shift_Ins	INS	-	-	C	rs200493020		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:42237000_42237001insC	ENST00000372922.4	-	5	890_891	c.328_329insG	c.(328-330)gcafs	p.A110fs	TRERF1_ENST00000372917.4_Frame_Shift_Ins_p.A110fs|TRERF1_ENST00000354325.2_Frame_Shift_Ins_p.A110fs|TRERF1_ENST00000340840.2_Frame_Shift_Ins_p.A110fs|TRERF1_ENST00000541110.1_Frame_Shift_Ins_p.A110fs	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	110					cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGGGCTGGTGCCCCCCACATC	0.584																																						ENST00000541110.1																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(328-330)accfs		transcriptional regulating factor 1																																				SO:0001589	frameshift_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42237000_42237001insC	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.329dupG	6.37:g.42237006_42237006dupC	ENSP00000362013:p.Ala110fs		Somatic				TRERF1_ENST00000372922.4_Frame_Shift_Ins_p.T110fs|TRERF1_ENST00000354325.2_Frame_Shift_Ins_p.T110fs|TRERF1_ENST00000372917.4_Frame_Shift_Ins_p.T110fs|TRERF1_ENST00000340840.2_Frame_Shift_Ins_p.T110fs	p.T110fs			WXS	Illumina GAIIx	Phase_I	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		5	896_897	-	Colorectal(47;0.196)		110					Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Frame_Shift_Ins	INS	ENST00000372922.4	37	c.328_329insG	CCDS4867.1																																																																																				0.584	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		9	566						9	566	---	---	---	---
TTBK1	84630	broad.mit.edu	37	6	43250627	43250628	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:43250627_43250628insC	ENST00000259750.4	+	14	2232_2233	c.2149_2150insC	c.(2149-2151)accfs	p.T717fs		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	717					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GCTGCTCACCACCCCCCAGGTC	0.589																																						ENST00000259750.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(2149-2151)cccfs		tau tubulin kinase 1																																				SO:0001589	frameshift_variant	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43250627_43250628insC	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.2155dupC	6.37:g.43250633_43250633dupC	ENSP00000259750:p.Thr717fs		Somatic					p.P717fs	NM_032538.1	NP_115927.1	WXS	Illumina GAIIx	Phase_I	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		14	2232_2233	+			717					A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Frame_Shift_Ins	INS	ENST00000259750.4	37	c.2149_2150insC	CCDS34455.1																																																																																				0.589	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			7	173						7	173	---	---	---	---
HCRTR2	3062	broad.mit.edu	37	6	55039410	55039411	+	Frame_Shift_Ins	INS	-	-	C	rs76774128		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:55039410_55039411insC	ENST00000370862.3	+	1	361_362	c.25_26insC	c.(25-27)tccfs	p.S9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGGAGGACTCCCCCCCTTGT	0.564																																						ENST00000370862.3																			1	Deletion - Frameshift(1)	p.P11fs*11(1)	upper_aerodigestive_tract(1)	breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(25-27)cccfs		hypocretin (orexin) receptor 2																																				SO:0001589	frameshift_variant	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55039410_55039411insC	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.32dupC	6.37:g.55039417_55039417dupC	ENSP00000359899:p.Ser9fs		Somatic					p.P9fs	NM_001526.3	NP_001517.2	WXS	Illumina GAIIx	Phase_I	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		1	361_362	+	Lung NSC(77;0.107)|Renal(3;0.122)		9					Q5VTM0	Frame_Shift_Ins	INS	ENST00000370862.3	37	c.25_26insC	CCDS4956.1																																																																																				0.564	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			10	311						10	311	---	---	---	---
HTR1E	3354	broad.mit.edu	37	6	87725846	87725847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:87725846_87725847insC	ENST00000305344.5	+	2	1497_1498	c.794_795insC	c.(793-798)atccccfs	p.IP265fs		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	265					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.F268fs*4(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TCCATCAGGATCCCCCCCTTCG	0.51																																						ENST00000305344.4																			1	Insertion - Frameshift(1)	p.F268fs*4(1)	large_intestine(1)	breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(793-795)accfs		5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	Eletriptan(DB00216)																																			SO:0001589	frameshift_variant	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725846_87725847insC		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.801dupC	6.37:g.87725853_87725853dupC	ENSP00000307766:p.Ile265fs		Somatic				HTR1E_ENST00000369584.1_Frame_Shift_Ins_p.T265fs	p.T265fs	NM_000865.2	NP_000856.1	WXS	Illumina GAIIx	Phase_I	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1497_1498	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	265					E1P503|Q9P1Y1	Frame_Shift_Ins	INS	ENST00000305344.5	37	c.794_795insC	CCDS5006.1																																																																																				0.510	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		16	452						16	452	---	---	---	---
REV3L	5980	broad.mit.edu	37	6	111693903	111693904	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:111693903_111693904insG	ENST00000358835.3	-	14	6108_6109	c.5654_5655insC	c.(5653-5655)ccafs	p.P1885fs	REV3L_ENST00000368802.3_Frame_Shift_Ins_p.P1885fs|REV3L_ENST00000368805.1_Frame_Shift_Ins_p.P1885fs|REV3L_ENST00000435970.1_Frame_Shift_Ins_p.P1807fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1885	Mediates interaction with MAD2L2.				DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTCCCTACTTGGGGGGGACAT	0.431								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(5419-5421)cagfs	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit																																				SO:0001589	frameshift_variant	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111693903_111693904insG	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5655dupC	6.37:g.111693910_111693910dupG	ENSP00000351697:p.Pro1885fs		Somatic				REV3L_ENST00000368805.1_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368802.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000358835.3_Frame_Shift_Ins_p.Q1885fs	p.Q1807fs			WXS	Illumina GAIIx	Phase_I	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	6236_6237	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1885					O43214|Q5TC33	Frame_Shift_Ins	INS	ENST00000358835.3	37	c.5420_5421insC	CCDS5091.2																																																																																				0.431	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		26	299						26	299	---	---	---	---
EIF3B	8662	broad.mit.edu	37	7	2404085	2404086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:2404085_2404086insG	ENST00000360876.4	+	6	1134_1135	c.1078_1079insG	c.(1078-1080)tggfs	p.W360fs	EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.W360fs	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CATTGCTCTATGGGGGGGAGAG	0.475																																						ENST00000360876.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24						c.(1078-1080)gggfs		eukaryotic translation initiation factor 3, subunit B																																				SO:0001589	frameshift_variant	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2404085_2404086insG	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1085dupG	7.37:g.2404092_2404092dupG	ENSP00000354125:p.Trp360fs		Somatic				EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.G360fs	p.G360fs	NM_001037283.1	NP_001032360.1	WXS	Illumina GAIIx	Phase_I	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	6	1134_1135	+		Ovarian(82;0.0253)	360			Sufficient for interaction with EIF3E.			Frame_Shift_Ins	INS	ENST00000360876.4	37	c.1078_1079insG	CCDS5332.1																																																																																				0.475	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			7	194						7	194	---	---	---	---
DAGLB	221955	broad.mit.edu	37	7	6474590	6474591	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:6474590_6474591insC	ENST00000297056.6	-	4	649_650	c.480_481insG	c.(478-483)gggaaafs	p.K161fs	DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000428902.2_Frame_Shift_Ins_p.K34fs|DAGLB_ENST00000436575.1_Frame_Shift_Ins_p.K120fs|DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000479922.2_5'Flank	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	161					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GGAGCCATTTTCCCCCCAAGAG	0.525																																						ENST00000297056.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26						c.(478-483)ggaaatfs		diacylglycerol lipase, beta																																				SO:0001589	frameshift_variant	221955				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr7:6474590_6474591insC	AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.481dupG	7.37:g.6474596_6474596dupC	ENSP00000297056:p.Lys161fs		Somatic				DAGLB_ENST00000428902.2_Frame_Shift_Ins_p.N34fs|DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000436575.1_Frame_Shift_Ins_p.N120fs|DAGLB_ENST00000421761.2_Intron	p.N161fs	NM_139179.3	NP_631918.3	WXS	Illumina GAIIx	Phase_I	Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	4	649_650	-		Ovarian(82;0.232)	161					A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Frame_Shift_Ins	INS	ENST00000297056.6	37	c.480_481insG	CCDS5350.1																																																																																				0.525	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179		7	244						7	244	---	---	---	---
PMS2CL	441194	broad.mit.edu	37	7	6759412	6759413	+	RNA	INS	-	-	G	rs554628923	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:6759412_6759413insG	ENST00000486256.1	+	0	346					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		GTGTGCCTCCCGGGGGGGAGGT	0.569																																						ENST00000486256.1																			0																																																			441194							g.chr7:6759412_6759413insG	BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6759419_6759419dupG			Somatic						NR_002217.1		WXS	Illumina GAIIx	Phase_I					0	346	+								B4DK88|Q764P1	RNA	INS	ENST00000486256.1	37																																																																																						0.569	PMS2CL-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000324193.1	NR_002217		7	106						7	106	---	---	---	---
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-381)atccccfs	p.IP126fs	FKBP9_ENST00000538443.1_5'UTR|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.IP179fs|AVL9_ENST00000404479.1_Intron	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAATT	0.446																																						ENST00000242209.4																			0				central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39						c.(376-378)accfs		FK506 binding protein 9, 63 kDa																																				SO:0001589	frameshift_variant	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33014803_33014804insC	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.384dupC	7.37:g.33014810_33014810dupC	ENSP00000242209:p.Ile126fs		Somatic				FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_5'UTR	p.T126fs	NM_007270.3	NP_009201.2	WXS	Illumina GAIIx	Phase_I	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		3	546_547	+			126			PPIase FKBP-type 1.		B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Frame_Shift_Ins	INS	ENST00000242209.4	37	c.377_378insC	CCDS5439.1																																																																																				0.446	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		8	236						8	236	---	---	---	---
SPDYE3	441272	broad.mit.edu	37	7	99912173	99912174	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:99912173_99912174insC	ENST00000332397.6	+	6	1185_1186	c.1001_1002insC	c.(1000-1005)agccccfs	p.SP334fs	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	334										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTAGATCCCAGCCCCCCGCGTA	0.569																																						ENST00000332397.6																			0				endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						c.(1000-1002)accfs		speedy/RINGO cell cycle regulator family member E3																																				SO:0001589	frameshift_variant	441272							g.chr7:99912173_99912174insC	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1007dupC	7.37:g.99912179_99912179dupC	ENSP00000329565:p.Ser334fs		Somatic				SPDYE3_ENST00000437326.2_5'UTR	p.T334fs	NM_001004351.4	NP_001004351.3	WXS	Illumina GAIIx	Phase_I	A6NKU9	SPDE3_HUMAN			6	1185_1186	+			334					Q495Y9|Q6PHC4	Frame_Shift_Ins	INS	ENST00000332397.6	37	c.1001_1002insC	CCDS47658.2																																																																																				0.569	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		12	380						12	380	---	---	---	---
PCOLCE	5118	broad.mit.edu	37	7	100205413	100205414	+	Frame_Shift_Ins	INS	-	-	C	rs538448756		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:100205413_100205414insC	ENST00000223061.5	+	8	1446_1447	c.1166_1167insC	c.(1165-1170)tgccccfs	p.CP389fs		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	389	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)	p.M392fs*>59(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGCAAGCAGTGCCCCCCCATGA	0.51																																						ENST00000223061.5																			2	Insertion - Frameshift(2)	p.M392fs*>59(2)	ovary(1)|large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23						c.(1165-1167)tccfs		procollagen C-endopeptidase enhancer																																				SO:0001589	frameshift_variant	5118				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	g.chr7:100205413_100205414insC	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.1173dupC	7.37:g.100205420_100205420dupC	ENSP00000223061:p.Cys389fs		Somatic					p.S389fs	NM_002593.3	NP_002584.2	WXS	Illumina GAIIx	Phase_I	Q15113	PCOC1_HUMAN			8	1446_1447	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		389			NTR.		B2R9E1|O14550	Frame_Shift_Ins	INS	ENST00000223061.5	37	c.1166_1167insC	CCDS5700.1																																																																																				0.510	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593		19	345						19	345	---	---	---	---
AP1S1	1174	broad.mit.edu	37	7	100802404	100802405	+	Frame_Shift_Ins	INS	-	-	G	rs571529719		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:100802404_100802405insG	ENST00000337619.5	+	4	474_475	c.356_357insG	c.(355-360)atggggfs	p.MG119fs	MIR4653_ENST00000585107.1_RNA	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	119					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor-mediated endocytosis (GO:0006898)|regulation of defense response to virus by virus (GO:0050690)|response to virus (GO:0009615)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGTTTTTGATGGGGGGGGATG	0.564																																						ENST00000337619.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8						c.(355-357)aggfs		adaptor-related protein complex 1, sigma 1 subunit																																				SO:0001589	frameshift_variant	1174				intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity	g.chr7:100802404_100802405insG	AB015319	CCDS47669.1	7q22.1	2014-02-04			ENSG00000106367	ENSG00000106367			559	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, small 1 (19kD)"", ""clathrin coat assembly protein AP19"", ""sigma1A subunit of AP-1 clathrin adaptor complex"", ""AP-1 complex subunit sigma-1A"", ""sigma1A-adaptin"", ""golgi adaptor HA1/AP1 adaptin sigma-1A subunit"", ""clathrin assembly protein complex 1 sigma-1A small chain"", ""HA1 19 kDa subunit"""	603531	"""erythrokeratodermia variabilis 3 (Kamouraska type)"""	CLAPS1, EKV3		9653655, 9733768, 19057675	Standard	NM_001283		Approved	AP19, SIGMA1A, WUGSC:H_DJ0747G18.2	uc003uxv.4	P61966	OTTHUMG00000157103	ENST00000337619.5:c.364dupG	7.37:g.100802412_100802412dupG	ENSP00000336666:p.Met119fs		Somatic					p.R119fs	NM_001283.3	NP_001274.1	WXS	Illumina GAIIx	Phase_I	P61966	AP1S1_HUMAN			4	474_475	+	Lung NSC(181;0.168)|all_lung(186;0.215)		119					B2R5D8|P82267|Q00382|Q53YA7|Q9BTN4|Q9UDW9	Frame_Shift_Ins	INS	ENST00000337619.5	37	c.356_357insG	CCDS47669.1																																																																																				0.564	AP1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347439.1	NM_001283		12	161						12	161	---	---	---	---
CCDC136	64753	broad.mit.edu	37	7	128457829	128457830	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:128457829_128457830insC	ENST00000297788.4	+	17	3748_3749	c.3381_3382insC	c.(3382-3384)cccfs	p.P1128fs	CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.P408fs|CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.P420fs|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.P489fs|CCDC136_ENST00000471729.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1128						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTACCCCCAATCCCCCCATCTT	0.52																																						ENST00000297788.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						c.(3379-3384)aaccccfs		coiled-coil domain containing 136																																				SO:0001589	frameshift_variant	64753					integral to membrane	protein binding	g.chr7:128457829_128457830insC		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.3387dupC	7.37:g.128457835_128457835dupC	ENSP00000297788:p.Pro1128fs		Somatic				CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.NP407fs|CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.NP419fs|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.NP488fs	p.NP1127fs	NM_022742.4	NP_073579.4	WXS	Illumina GAIIx	Phase_I	Q96JN2	CC136_HUMAN			17	3748_3749	+			1127					A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Frame_Shift_Ins	INS	ENST00000297788.4	37	c.3381_3382insC	CCDS47704.1																																																																																				0.520	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		7	1585						7	1585	---	---	---	---
OR9A4	130075	broad.mit.edu	37	7	141618774	141618776	+	In_Frame_Del	DEL	CTA	CTA	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:141618774_141618776delCTA	ENST00000548136.1	+	1	158_160	c.99_101delCTA	c.(97-102)ttctac>ttc	p.Y34del	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TCTTCTTTTTCTACTTGGTGACA	0.414																																						ENST00000548136.1																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22						c.(97-102)ttc>tt		olfactory receptor, family 9, subfamily A, member 4																																				SO:0001651	inframe_deletion	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141618774_141618776delCTA		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.99_101delCTA	7.37:g.141618774_141618776delCTA	ENSP00000448789:p.Tyr34del		Somatic				MGAM_ENST00000497554.1_Intron	p.FY33del	NM_001001656.1	NP_001001656.1	WXS	Illumina GAIIx	Phase_I	Q8NGU2	OR9A4_HUMAN			1	158_160	+	Melanoma(164;0.0171)		33					B9EGV6|Q6IFI4	In_Frame_Del	DEL	ENST00000548136.1	37	c.99_101delCTA	CCDS43661.1																																																																																				0.414	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		7	813						7	813	---	---	---	---
TRBV7-6	28592	broad.mit.edu	37	7	142139683	142139684	+	RNA	INS	-	-	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:142139683_142139684insA	ENST00000390374.3	-	0	94									T cell receptor beta variable 7-6																		cctacacacaGAAAAAAAAATG	0.49																																						ENST00000390374.3																			0																	13,3677		1,11,1833						-3.2	0.0			105	7,7891		2,3,3944	no	intergenic				3,14,5777	A1A1,A1R,RR		0.0886,0.3523,0.1726				20,11568						28592							g.chr7:142139683_142139684insA	L36092		7q34	2012-02-07			ENSG00000211727	ENSG00000211727		"""T cell receptors / TRB locus"""	12240	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV76, TCRBV6S3A1N1T, TCRBV7S6			OTTHUMG00000158882		7.37:g.142139692_142139692dupA			Somatic								WXS	Illumina GAIIx	Phase_I					0	94	-									RNA	INS	ENST00000390374.3	37																																																																																						0.490	TRBV7-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352490.2	NG_001333		8	165						8	165	---	---	---	---
TRPV5	56302	broad.mit.edu	37	7	142612493	142612494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:142612493_142612494insC	ENST00000265310.1	-	10	1617_1618	c.1269_1270insG	c.(1267-1272)gggccafs	p.P424fs		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	424					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACATGGAATGGCCCCCCAAGAA	0.505																																						ENST00000265310.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(1267-1272)ggcattfs		transient receptor potential cation channel, subfamily V, member 5				0,4264		0,0,2132						4.4	0.1			148	2,8252		0,2,4125	no	frameshift	TRPV5	NM_019841.4		0,2,6257	A1A1,A1R,RR		0.0242,0.0,0.016				2,12516				SO:0001589	frameshift_variant	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142612493_142612494insC	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1270dupG	7.37:g.142612499_142612499dupC	ENSP00000265310:p.Pro424fs		Somatic					p.I424fs	NM_019841.4	NP_062815.2	WXS	Illumina GAIIx	Phase_I	Q9NQA5	TRPV5_HUMAN			10	1617_1618	-	Melanoma(164;0.059)		424					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Frame_Shift_Ins	INS	ENST00000265310.1	37	c.1269_1270insG	CCDS5875.1																																																																																				0.505	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		9	488						9	488	---	---	---	---
KEL	3792	broad.mit.edu	37	7	142639979	142639980	+	Frame_Shift_Ins	INS	-	-	C	rs140258059		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:142639979_142639980insC	ENST00000355265.2	-	17	2397_2398	c.1923_1924insG	c.(1921-1926)gggctafs	p.L642fs		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	642					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCGATGGCTAGCCCCCCAACGT	0.5																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(1921-1926)ggtagcfs		Kell blood group, metallo-endopeptidase																																				SO:0001589	frameshift_variant	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142639979_142639980insC	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1924dupG	7.37:g.142639985_142639985dupC	ENSP00000347409:p.Leu642fs		Somatic					p.S642fs	NM_000420.2	NP_000411.1	WXS	Illumina GAIIx	Phase_I	P23276	KELL_HUMAN			17	2397_2398	-	Melanoma(164;0.059)		642					B2RBV4|Q96RS8|Q99885	Frame_Shift_Ins	INS	ENST00000355265.2	37	c.1923_1924insG	CCDS34766.1																																																																																				0.500	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		20	1162						20	1162	---	---	---	---
DLC1	10395	broad.mit.edu	37	8	13356858	13356859	+	Frame_Shift_Ins	INS	-	-	G	rs149776829|rs182488013		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr8:13356858_13356859insG	ENST00000276297.4	-	2	1131_1132	c.722_723insC	c.(721-723)cctfs	p.P241fs	DLC1_ENST00000511869.1_Frame_Shift_Ins_p.P241fs|DLC1_ENST00000316609.5_Frame_Shift_Ins_p.P241fs	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	241					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.P241H(3)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTTCATCTTTAGGGGGGTCAGG	0.391																																						ENST00000276297.4																			3	Substitution - Missense(3)	p.P241H(3)	lung(3)	NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(721-723)caafs		deleted in liver cancer 1																																				SO:0001589	frameshift_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:13356858_13356859insG	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.723dupC	8.37:g.13356864_13356864dupG	ENSP00000276297:p.Pro241fs		Somatic				DLC1_ENST00000511869.1_Frame_Shift_Ins_p.Q241fs|DLC1_ENST00000316609.5_Frame_Shift_Ins_p.Q241fs	p.Q241fs	NM_182643.2	NP_872584.2	WXS	Illumina GAIIx	Phase_I	Q96QB1	RHG07_HUMAN			2	1131_1132	-			241					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Frame_Shift_Ins	INS	ENST00000276297.4	37	c.722_723insC	CCDS5989.1																																																																																				0.391	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		7	490						7	490	---	---	---	---
PSD3	23362	broad.mit.edu	37	8	18413784	18413785	+	Frame_Shift_Ins	INS	-	-	G	rs28651847	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr8:18413784_18413785insG	ENST00000327040.8	-	15	2964_2965	c.2862_2863insC	c.(2860-2865)cccgacfs	p.D955fs	PSD3_ENST00000523619.1_Frame_Shift_Ins_p.D890fs|PSD3_ENST00000286485.8_Frame_Shift_Ins_p.D421fs|PSD3_ENST00000428502.2_Frame_Shift_Ins_p.D284fs|PSD3_ENST00000440756.2_Frame_Shift_Ins_p.D957fs	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	956					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.D421Y(1)|p.D957Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACCTTCTTGTCGGGGGGATATG	0.48																																						ENST00000440756.2																			2	Substitution - Missense(2)	p.D421Y(1)|p.D957Y(1)	kidney(2)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2866-2871)ccacaafs		pleckstrin and Sec7 domain containing 3																																				SO:0001589	frameshift_variant	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18413784_18413785insG	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2863dupC	8.37:g.18413790_18413790dupG	ENSP00000324127:p.Asp955fs		Somatic				PSD3_ENST00000327040.8_Frame_Shift_Ins_p.Q955fs|PSD3_ENST00000286485.8_Frame_Shift_Ins_p.Q421fs|PSD3_ENST00000428502.2_Frame_Shift_Ins_p.Q284fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.Q890fs	p.Q957fs			WXS	Illumina GAIIx	Phase_I	Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	15	2970_2971	-			956					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Frame_Shift_Ins	INS	ENST00000327040.8	37	c.2868_2869insC	CCDS43720.1																																																																																				0.480	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		9	713						9	713	---	---	---	---
PTK2B	2185	broad.mit.edu	37	8	27255133	27255147	+	In_Frame_Del	DEL	TAAAGTTGGGCACGT	TAAAGTTGGGCACGT	-	rs1045511	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr8:27255133_27255147delTAAAGTTGGGCACGT	ENST00000397501.1	+	7	840_854	c.32_46delTAAAGTTGGGCACGT	c.(31-48)gtaaagttgggcacgtta>gta	p.KLGTL12del	PTK2B_ENST00000346049.5_In_Frame_Del_p.KLGTL12del|PTK2B_ENST00000517339.1_In_Frame_Del_p.KLGTL12del|PTK2B_ENST00000420218.2_In_Frame_Del_p.KLGTL12del|PTK2B_ENST00000544172.1_In_Frame_Del_p.KLGTL12del|PTK2B_ENST00000338238.4_In_Frame_Del_p.KLGTL12del	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	12					activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	CTGAGTCGAGTAAAGTTGGGCACGTTACGCCGGCC	0.572																																						ENST00000397501.1																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(31-48)gta>g		protein tyrosine kinase 2 beta																																				SO:0001651	inframe_deletion	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27255133_27255147delTAAAGTTGGGCACGT	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.32_46delTAAAGTTGGGCACGT	8.37:g.27255133_27255147delTAAAGTTGGGCACGT	ENSP00000380638:p.Lys12_Leu16del		Somatic				PTK2B_ENST00000420218.2_In_Frame_Del_p.VKLGTL11del|PTK2B_ENST00000544172.1_In_Frame_Del_p.VKLGTL11del|PTK2B_ENST00000517339.1_In_Frame_Del_p.VKLGTL11del|PTK2B_ENST00000346049.5_In_Frame_Del_p.VKLGTL11del|PTK2B_ENST00000338238.4_In_Frame_Del_p.VKLGTL11del	p.VKLGTL11del	NM_173174.2	NP_775266.1	WXS	Illumina GAIIx	Phase_I	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	7	840_854	+		Ovarian(32;2.72e-05)	11					D3DST0|Q13475|Q14290|Q16709|Q6PID4	In_Frame_Del	DEL	ENST00000397501.1	37	c.32_46delTAAAGTTGGGCACGT	CCDS6057.1																																																																																				0.572	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		7	432						7	432	---	---	---	---
GOT1L1	137362	broad.mit.edu	37	8	37793280	37793281	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr8:37793280_37793281insG	ENST00000307599.4	-	7	969_970	c.870_871insC	c.(868-873)cccaacfs	p.N291fs	GOT1L1_ENST00000518826.1_Frame_Shift_Ins_p.N32fs	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	291					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			GCACCCGTGTTGGGGGGGTTTA	0.609																																						ENST00000307599.4																			0				central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14						c.(868-873)ccacacfs		glutamic-oxaloacetic transaminase 1-like 1																																				SO:0001589	frameshift_variant	137362				biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	g.chr8:37793280_37793281insG	BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.871dupC	8.37:g.37793287_37793287dupG	ENSP00000303077:p.Asn291fs		Somatic				GOT1L1_ENST00000518826.1_Frame_Shift_Ins_p.H32fs	p.H291fs	NM_152413.2	NP_689626.2	WXS	Illumina GAIIx	Phase_I	Q8NHS2	AATC2_HUMAN	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		7	969_970	-	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	291					A8MWL4	Frame_Shift_Ins	INS	ENST00000307599.4	37	c.870_871insC	CCDS47839.1																																																																																				0.609	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1	NM_152413		14	149						14	149	---	---	---	---
SULF1	23213	broad.mit.edu	37	8	70488248	70488249	+	Frame_Shift_Ins	INS	-	-	G	rs201774043		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr8:70488248_70488249insG	ENST00000260128.4	+	6	933_934	c.216_217insG	c.(217-219)gggfs	p.G73fs	SULF1_ENST00000458141.2_Frame_Shift_Ins_p.G73fs|SULF1_ENST00000419716.3_Frame_Shift_Ins_p.G73fs|SULF1_ENST00000402687.4_Frame_Shift_Ins_p.G73fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	73					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTATGGAACATGGGGGGGCCAC	0.495																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(214-219)caggggfs		sulfatase 1																																				SO:0001589	frameshift_variant	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70488248_70488249insG	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.223dupG	8.37:g.70488255_70488255dupG	ENSP00000260128:p.Gly73fs		Somatic				SULF1_ENST00000402687.4_Frame_Shift_Ins_p.QG72fs|SULF1_ENST00000419716.3_Frame_Shift_Ins_p.QG72fs|SULF1_ENST00000458141.2_Frame_Shift_Ins_p.QG72fs	p.QG72fs	NM_015170.2	NP_055985.2	WXS	Illumina GAIIx	Phase_I	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		6	933_934	+	Breast(64;0.0654)		72					Q86YV8|Q8NCA2|Q9UPS5	Frame_Shift_Ins	INS	ENST00000260128.4	37	c.216_217insG	CCDS6204.1																																																																																				0.495	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		7	85						7	85	---	---	---	---
AGO2	27161	broad.mit.edu	37	8	141554344	141554345	+	Frame_Shift_Ins	INS	-	-	G	rs148575703	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr8:141554344_141554345insG	ENST00000220592.5	-	14	1918_1919	c.1806_1807insC	c.(1804-1809)cccgccfs	p.A603fs	AGO2_ENST00000519980.1_Frame_Shift_Ins_p.A603fs	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	603	Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										CCATCCCCGGCGGGGGGGTGAG	0.644																																						ENST00000220592.5																			0											c.(1804-1809)ccccggfs		argonaute RISC catalytic component 2																																				SO:0001589	frameshift_variant	27161							g.chr8:141554344_141554345insG	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1807dupC	8.37:g.141554351_141554351dupG	ENSP00000220592:p.Ala603fs		Somatic				AGO2_ENST00000519980.1_Frame_Shift_Ins_p.R603fs	p.R603fs	NM_012154.3	NP_036286.2	WXS	Illumina GAIIx	Phase_I					14	1918_1919	-								Q8TCZ5|Q8WV58|Q96ID1	Frame_Shift_Ins	INS	ENST00000220592.5	37	c.1806_1807insC	CCDS6380.1																																																																																				0.644	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			13	394						13	394	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14823286	14823287	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:14823286_14823287insG	ENST00000380880.3	-	13	2991_2992	c.2208_2209insC	c.(2206-2211)cccatgfs	p.M737fs	FREM1_ENST00000380881.4_Frame_Shift_Ins_p.M738fs|FREM1_ENST00000422223.2_Frame_Shift_Ins_p.M737fs			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	737					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGTCTTGCATGGGGGGCATGT	0.441																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2209-2214)cctgcafs		FRAS1 related extracellular matrix 1																																				SO:0001589	frameshift_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14823286_14823287insG	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.2209dupC	9.37:g.14823292_14823292dupG	ENSP00000370262:p.Met737fs		Somatic				FREM1_ENST00000380880.3_Frame_Shift_Ins_p.A737fs|FREM1_ENST00000422223.2_Frame_Shift_Ins_p.A737fs	p.A738fs			WXS	Illumina GAIIx	Phase_I	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	14	3026_3027	-			737					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Frame_Shift_Ins	INS	ENST00000380880.3	37	c.2211_2212insC	CCDS47952.1																																																																																				0.441	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		7	623						7	623	---	---	---	---
PIGO	84720	broad.mit.edu	37	9	35091522	35091523	+	Frame_Shift_Ins	INS	-	-	G	rs144233446		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:35091522_35091523insG	ENST00000378617.3	-	7	2755_2756	c.2361_2362insC	c.(2359-2364)cccactfs	p.T788fs	PIGO_ENST00000341666.3_Frame_Shift_Ins_p.T788fs|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	788					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.T788fs*5(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTGAGAAGTGGGGGGGCCTG	0.604																																						ENST00000378617.3																			1	Insertion - Frameshift(1)	p.T788fs*5(1)	ovary(1)	endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(2359-2364)cccttcfs		phosphatidylinositol glycan anchor biosynthesis, class O																																				SO:0001589	frameshift_variant	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35091522_35091523insG	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2362dupC	9.37:g.35091529_35091529dupG	ENSP00000367880:p.Thr788fs		Somatic				PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.F788fs	p.F788fs	NM_032634.3	NP_116023.2	WXS	Illumina GAIIx	Phase_I	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	2755_2756	-			788					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Frame_Shift_Ins	INS	ENST00000378617.3	37	c.2361_2362insC	CCDS6575.1																																																																																				0.604	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		18	256						18	256	---	---	---	---
ZBTB5	9925	broad.mit.edu	37	9	37442161	37442162	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:37442161_37442162insG	ENST00000307750.4	-	2	575_576	c.387_388insC	c.(385-390)cccagtfs	p.S130fs		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	130					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		ACGCGCTCACTGGGGGGAGACA	0.525																																						ENST00000307750.4																			0				NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						c.(385-390)ccgtgafs		zinc finger and BTB domain containing 5																																				SO:0001589	frameshift_variant	9925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:37442161_37442162insG	AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.388dupC	9.37:g.37442167_37442167dupG	ENSP00000307604:p.Ser130fs		Somatic					p.*130fs	NM_014872.2	NP_055687.1	WXS	Illumina GAIIx	Phase_I	O15062	ZBTB5_HUMAN		GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)	2	575_576	-			130						Frame_Shift_Ins	INS	ENST00000307750.4	37	c.387_388insC	CCDS6610.1																																																																																				0.525	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052462.1	NM_014872		7	502						7	502	---	---	---	---
KGFLP2	654466	broad.mit.edu	37	9	41962753	41962756	+	lincRNA	DEL	GAAA	GAAA	-	rs138206184|rs371563708|rs561412806	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:41962753_41962756delGAAA	ENST00000454645.1	-	0	757					NR_003670.1																						TCCTTCTGTTGaaacaaacaaaca	0.343																																						ENST00000454645.1																			0																																																			654466							g.chr9:41962753_41962756delGAAA																													9.37:g.41962753_41962756delGAAA			Somatic						NR_003670.1		WXS	Illumina GAIIx	Phase_I					0	757	-									RNA	DEL	ENST00000454645.1	37																																																																																						0.343	RP11-204M4.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143738.1			3	4						3	4	---	---	---	---
MRPL50	54534	broad.mit.edu	37	9	104152774	104152775	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:104152774_104152775insG	ENST00000374865.4	-	2	471_472	c.450_451insC	c.(448-453)cccaatfs	p.N151fs	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	151						mitochondrion (GO:0005739)|ribosome (GO:0005840)		p.P150P(1)		large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ATTTTCAAATTGGGGGGCAGAT	0.401																																						ENST00000374865.4																			1	Substitution - coding silent(1)	p.P150P(1)	prostate(1)	large_intestine(1)|lung(2)|prostate(2)	5						c.(448-453)ccatttfs		mitochondrial ribosomal protein L50																																				SO:0001589	frameshift_variant	54534					mitochondrion|ribosome		g.chr9:104152774_104152775insG	AK000500	CCDS6753.1	9q31.1	2012-11-14			ENSG00000136897	ENSG00000136897		"""Mitochondrial ribosomal proteins / large subunits"""	16654	protein-coding gene	gene with protein product	"""mitochondrial 39S ribosomal protein L50"""	611854					Standard	NM_019051		Approved	FLJ20493, MRP-L50	uc004bbe.2	Q8N5N7	OTTHUMG00000020384	ENST00000374865.4:c.451dupC	9.37:g.104152780_104152780dupG	ENSP00000363999:p.Asn151fs		Somatic				MRPL50_ENST00000539624.1_Intron	p.F151fs	NM_019051.2	NP_061924.1	WXS	Illumina GAIIx	Phase_I	Q8N5N7	RM50_HUMAN			2	471_472	-		Acute lymphoblastic leukemia(62;0.0559)	151					B7Z358|Q5T7E0|Q9NX15	Frame_Shift_Ins	INS	ENST00000374865.4	37	c.450_451insC	CCDS6753.1																																																																																				0.401	MRPL50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053450.1	NM_019051		7	211						7	211	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:107593322_107593323insC	ENST00000374736.3	-	14	2169_2170	c.1775_1776insG	c.(1774-1776)ggcfs	p.G592fs	ABCA1_ENST00000494467.1_5'Flank	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	592					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AGTAGGCGAAGCCCCCCCAGAC	0.54																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(1774-1776)gttfs		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)																																			SO:0001589	frameshift_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107593322_107593323insC	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.1776dupG	9.37:g.107593329_107593329dupC	ENSP00000363868:p.Gly592fs		Somatic					p.V592fs	NM_005502.3	NP_005493.2	WXS	Illumina GAIIx	Phase_I	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	14	2169_2170	-			592					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Frame_Shift_Ins	INS	ENST00000374736.3	37	c.1775_1776insG	CCDS6762.1																																																																																				0.540	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		15	333						15	333	---	---	---	---
MAN1B1	11253	broad.mit.edu	37	9	139995547	139995548	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:139995547_139995548insG	ENST00000371589.4	+	7	1080_1081	c.1007_1008insG	c.(1006-1011)ctggggfs	p.LG336fs	MAN1B1_ENST00000474902.1_Frame_Shift_Ins_p.LG39fs	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	336					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		ATCCGCATCCTGGGGGGGCTCC	0.54																																						ENST00000371589.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14						c.(1006-1008)cggfs		mannosidase, alpha, class 1B, member 1																																				SO:0001589	frameshift_variant	11253				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr9:139995547_139995548insG	AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"""endoplasmic reticulum alpha-mannosidase 1"", ""alpha 1,2-mannosidase"", ""endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1"", ""ER alpha 1,2-mannosidase"", ""Man9GlcNAc2-specific processing alpha-mannosidase"""	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.1014dupG	9.37:g.139995554_139995554dupG	ENSP00000360645:p.Leu336fs		Somatic				MAN1B1_ENST00000474902.1_Frame_Shift_Ins_p.R39fs	p.R336fs	NM_016219.4	NP_057303.2	WXS	Illumina GAIIx	Phase_I	Q9UKM7	MA1B1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)	7	1080_1081	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	336					Q5VSG3|Q9BRS9|Q9Y5K7	Frame_Shift_Ins	INS	ENST00000371589.4	37	c.1007_1008insG	CCDS7029.1																																																																																				0.540	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2	NM_016219		10	260						10	260	---	---	---	---
FRMD4A	55691	broad.mit.edu	37	10	13696451	13696452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:13696451_13696452insG	ENST00000357447.2	-	23	3382_3383	c.3014_3015insC	c.(3013-3015)ccafs	p.P1005fs	FRMD4A_ENST00000358621.4_Frame_Shift_Ins_p.P990fs|FRMD4A_ENST00000378503.1_Frame_Shift_Ins_p.P1005fs	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	1005	Ser-rich.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGGGGCTGCTTGGGGGGGTGGC	0.535																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(3013-3015)cagfs		FERM domain containing 4A																																				SO:0001589	frameshift_variant	55691					cytoplasm|cytoskeleton	binding	g.chr10:13696451_13696452insG	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.3015dupC	10.37:g.13696458_13696458dupG	ENSP00000350032:p.Pro1005fs		Somatic				FRMD4A_ENST00000358621.4_Frame_Shift_Ins_p.Q990fs|FRMD4A_ENST00000378503.1_Frame_Shift_Ins_p.Q1005fs	p.Q1005fs	NM_018027.3	NP_060497.3	WXS	Illumina GAIIx	Phase_I	Q9P2Q2	FRM4A_HUMAN			23	3382_3383	-			1005			Ser-rich.		A7E2Y3|Q5T377	Frame_Shift_Ins	INS	ENST00000357447.2	37	c.3014_3015insC	CCDS7101.1																																																																																				0.535	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		12	249						12	249	---	---	---	---
KIAA1217	56243	broad.mit.edu	37	10	24822125	24822127	+	In_Frame_Del	DEL	GAA	GAA	-	rs140819336	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:24822125_24822127delGAA	ENST00000376454.3	+	16	3403_3405	c.3373_3375delGAA	c.(3373-3375)gaadel	p.E1129del	KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000376451.2_In_Frame_Del_p.E812del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1129					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGATGAGGAGGAAGAAGAAGAAG	0.552														6	0.00119808	0.0008	0.0014	5008	,	,		21525	0.0		0.004	False		,,,				2504	0.0					ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(2422-2424)del		KIAA1217			,,	28,4236		0,28,2104					,,	3.6	1.0		dbSNP_134	73	85,8169		0,85,4042	no	coding,coding,coding	KIAA1217	NM_019590.3,NM_001098501.1,NM_001098500.1	,,	0,113,6146	A1A1,A1R,RR		1.0298,0.6567,0.9027	,,	,,		113,12405				SO:0001651	inframe_deletion	56243				embryonic skeletal system development	cytoplasm		g.chr10:24822125_24822127delGAA	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.3373_3375delGAA	10.37:g.24822134_24822136delGAA	ENSP00000365637:p.Glu1129del		Somatic				KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000376454.3_In_Frame_Del_p.E1129del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del	p.E812del			WXS	Illumina GAIIx	Phase_I	Q5T5P2	SKT_HUMAN			11	2682_2684	+			1129					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	In_Frame_Del	DEL	ENST00000376454.3	37	c.2422_2424delGAA	CCDS31165.1																																																																																				0.552	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		7	472						7	472	---	---	---	---
ZEB1	6935	broad.mit.edu	37	10	31809832	31809833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:31809832_31809833insG	ENST00000320985.10	+	7	1679_1680	c.1569_1570insG	c.(1570-1572)gggfs	p.G524fs	ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.G504fs|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.G525fs|ZEB1_ENST00000446923.2_Frame_Shift_Ins_p.G508fs|ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.G457fs			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	524					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGCTTTGAAGGGGGGGTGAA	0.371																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77	GRCh37	CD075582	ZEB1	D	rs35708848	c.(1519-1524)gaggggfs		zinc finger E-box binding homeobox 1																																				SO:0001589	frameshift_variant	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31809832_31809833insG	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.1576dupG	10.37:g.31809839_31809839dupG	ENSP00000319248:p.Gly524fs		Somatic				ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.EG503fs|ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.EG524fs|ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.EG456fs|ZEB1_ENST00000320985.10_Frame_Shift_Ins_p.EG523fs|ZEB1_ENST00000559858.1_3'UTR	p.EG507fs	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	WXS	Illumina GAIIx	Phase_I	P37275	ZEB1_HUMAN			7	1912_1913	+		Prostate(175;0.0156)	523					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Frame_Shift_Ins	INS	ENST00000320985.10	37	c.1521_1522insG	CCDS7169.1																																																																																				0.371	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		13	211						13	211	---	---	---	---
SYT15	83849	broad.mit.edu	37	10	46967610	46967611	+	Frame_Shift_Ins	INS	-	-	C	rs201388422		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:46967610_46967611insC	ENST00000374321.4	-	4	532_533	c.466_467insG	c.(466-468)gaafs	p.E156fs	SYT15_ENST00000374325.3_Frame_Shift_Ins_p.E156fs|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374323.4_Frame_Shift_Ins_p.E209fs|SYT15_ENST00000503753.1_Frame_Shift_Ins_p.E156fs	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	156	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CTGCTCATATTCCACCGAGAAC	0.624																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374323.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(625-627)atafs		synaptotagmin XV																																				SO:0001589	frameshift_variant	83849					integral to membrane|plasma membrane		g.chr10:46967610_46967611insC	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.467dupG	10.37:g.46967612_46967612dupC	ENSP00000363441:p.Glu156fs		Somatic				SYT15_ENST00000374325.3_Frame_Shift_Ins_p.I156fs|SYT15_ENST00000374321.4_Frame_Shift_Ins_p.I156fs|SYT15_ENST00000503753.1_Frame_Shift_Ins_p.I156fs	p.I209fs			WXS	Illumina GAIIx	Phase_I	Q9BQS2	SYT15_HUMAN			3	1212_1213	-			156			C2 1.		A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Frame_Shift_Ins	INS	ENST00000374321.4	37	c.625_626insG	CCDS44376.1																																																																																				0.624	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		15	77						15	77	---	---	---	---
FRMPD2	143162	broad.mit.edu	37	10	49371420	49371420	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:49371420delC	ENST00000374201.3	-	28	4134	c.3832delG	c.(3832-3834)gatfs	p.D1278fs	FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000305531.3_Frame_Shift_Del_p.D1253fs|FRMPD2_ENST00000474573.1_Frame_Shift_Del_p.D230fs|FRMPD2_ENST00000407470.4_Frame_Shift_Del_p.D1246fs	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	1278					tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TGCCTCACATCCTTTTCCAAA	0.423																																						ENST00000374201.3																			0				NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66						c.(3832-3834)atfs		FERM and PDZ domain containing 2							1.0	1.0	1.0					10																	49371420		421	937	1358	SO:0001589	frameshift_variant	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49371420delC	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.3832delG	10.37:g.49371420delC	ENSP00000363317:p.Asp1278fs		Somatic				FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000474573.1_Frame_Shift_Del_p.D230fs|FRMPD2_ENST00000407470.4_Frame_Shift_Del_p.D1246fs|FRMPD2_ENST00000305531.3_Frame_Shift_Del_p.D1253fs	p.D1278fs	NM_001018071.3	NP_001018081.3	WXS	Illumina GAIIx	Phase_I	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	28	4134	-			1278					B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Frame_Shift_Del	DEL	ENST00000374201.3	37	c.3832delG	CCDS31195.1																																																																																				0.423	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		15	559						15	559	---	---	---	---
CCDC6	8030	broad.mit.edu	37	10	61666039	61666040	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:61666039_61666040insC	ENST00000263102.6	-	1	374_375	c.143_144insG	c.(142-144)ggcfs	p.G48fs		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	48						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		AGATGACAATGCCCCCCGACTT	0.678			T	RET	NSCLC																																	ENST00000263102.6				Dom	yes		10	10q21	8030	T	coiled-coil domain containing 6			E	RET		NSCLC	CCDC6/RET(4)	0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18						c.(142-144)gatfs		coiled-coil domain containing 6																																				SO:0001589	frameshift_variant	8030					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	g.chr10:61666039_61666040insC	S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"""DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"""	601985	"""DNA segment on chromosome 10 (unique) 170"""	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.144dupG	10.37:g.61666045_61666045dupC	ENSP00000263102:p.Gly48fs		Somatic					p.D48fs	NM_005436.4	NP_005427.2	WXS	Illumina GAIIx	Phase_I	Q16204	CCDC6_HUMAN		Kidney(211;0.0597)	1	374_375	-			48					Q15250|Q6GSG7	Frame_Shift_Ins	INS	ENST00000263102.6	37	c.143_144insG	CCDS7257.1																																																																																				0.678	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436		7	183						7	183	---	---	---	---
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1368_1369insC	c.(1369-1371)ccc>Cccc	p.P457fs	SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000411652.2_Splice_Site_p.P338fs|SEC24C_ENST00000345254.4_Splice_Site_p.P457fs|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	457					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.51																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.e11-1		SEC24 family member C																																				SO:0001630	splice_region_variant	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75525559_75525560insC	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.1367-1->C	10.37:g.75525566_75525566dupC			Somatic				SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000535742.1_Intron	p.VP456_splice	NM_004922.3	NP_004913.2	WXS	Illumina GAIIx	Phase_I	P53992	SC24C_HUMAN			11	1530_1531	+	Prostate(51;0.0112)		456					B4DZT4|Q8WV25	Splice_Site	INS	ENST00000339365.2	37	c.1366_splice	CCDS7332.1																																																																																				0.510	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1		Frame_Shift_Ins	23	640						23	640	---	---	---	---
PCGF5	84333	broad.mit.edu	37	10	93011143	93011144	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:93011143_93011144delTA	ENST00000336126.5	+	6	652_653	c.420_421delTA	c.(418-423)gctatcfs	p.I141fs	PCGF5_ENST00000543648.1_Frame_Shift_Del_p.I141fs	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	141					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						CACAAATTGCTATCTGTCTAGA	0.337																																					Colon(178;732 2696 46441 50370)	ENST00000336126.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						c.(418-423)gctcfs		polycomb group ring finger 5																																				SO:0001589	frameshift_variant	84333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding	g.chr10:93011143_93011144delTA	AL832003	CCDS7413.1	10q23.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000180628	ENSG00000180628		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	28264	protein-coding gene	gene with protein product			"""ring finger protein (C3HC4 type) 159"""	RNF159		8076819	Standard	NM_001256549		Approved	MGC16202	uc001khh.4	Q86SE9	OTTHUMG00000018740	ENST00000336126.5:c.420_421delTA	10.37:g.93011143_93011144delTA	ENSP00000337500:p.Ile141fs		Somatic				PCGF5_ENST00000543648.1_Frame_Shift_Del_p.AI140fs	p.AI140fs	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	WXS	Illumina GAIIx	Phase_I	Q86SE9	PCGF5_HUMAN			6	652_653	+			140					B7Z892|D3DR33|Q6PK47|Q86TD0	Frame_Shift_Del	DEL	ENST00000336126.5	37	c.420_421delTA	CCDS7413.1																																																																																				0.337	PCGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049363.1	NM_032373		146	282						146	282	---	---	---	---
PSD	5662	broad.mit.edu	37	10	104164414	104164415	+	Frame_Shift_Ins	INS	-	-	G	rs375125392		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:104164414_104164415insG	ENST00000020673.5	-	15	3151_3152	c.2625_2626insC	c.(2623-2628)cccttcfs	p.F876fs	PSD_ENST00000406432.1_Frame_Shift_Ins_p.F876fs	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	876					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCAGCTGGGAAGGGGGGCGCAG	0.609																																						ENST00000020673.5																			0				breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2623-2628)cctcccfs		pleckstrin and Sec7 domain containing																																				SO:0001589	frameshift_variant	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104164414_104164415insG	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.2626dupC	10.37:g.104164420_104164420dupG	ENSP00000020673:p.Phe876fs		Somatic				PSD_ENST00000406432.1_Frame_Shift_Ins_p.P876fs	p.P876fs	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	WXS	Illumina GAIIx	Phase_I	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	15	3151_3152	-			876					B1AKX7|D3DR87|Q15673|Q8IVG0	Frame_Shift_Ins	INS	ENST00000020673.5	37	c.2625_2626insC	CCDS31272.1																																																																																				0.609	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			7	726						7	726	---	---	---	---
TRUB1	142940	broad.mit.edu	37	10	116730191	116730192	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:116730191_116730192insC	ENST00000298746.3	+	5	649_650	c.588_589insC	c.(589-591)cccfs	p.P197fs	RNU6-1121P_ENST00000516802.1_RNA	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	197					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		TAATGCAAGTGCCCCCCCTGTA	0.317																																						ENST00000298746.3																			0				breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12						c.(586-591)gtccccfs		TruB pseudouridine (psi) synthase family member 1																																				SO:0001589	frameshift_variant	142940				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr10:116730191_116730192insC	AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"""TruB pseudouridine (psi) synthase homolog 1 (E. coli)"""			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.595dupC	10.37:g.116730198_116730198dupC	ENSP00000298746:p.Pro197fs		Somatic					p.VP196fs	NM_139169.4	NP_631908.1	WXS	Illumina GAIIx	Phase_I	Q8WWH5	TRUB1_HUMAN		Epithelial(162;0.00879)|all cancers(201;0.0243)	5	649_650	+		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)	196					B2R716|Q53ES2	Frame_Shift_Ins	INS	ENST00000298746.3	37	c.588_589insC	CCDS7591.1																																																																																				0.317	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1	NM_139169		9	127						9	127	---	---	---	---
EIF3A	8661	broad.mit.edu	37	10	120801890	120801891	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:120801890_120801891insC	ENST00000369144.3	-	19	3268_3269	c.3141_3142insG	c.(3139-3144)gggccgfs	p.P1048fs	EIF3A_ENST00000541549.1_Frame_Shift_Ins_p.P1014fs	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CCTCGCCTCGGCCCCCGGTCAT	0.604																																						ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(3139-3144)ggcgagfs		eukaryotic translation initiation factor 3, subunit A																																				SO:0001589	frameshift_variant	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120801890_120801891insC	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3142dupG	10.37:g.120801895_120801895dupC	ENSP00000358140:p.Pro1048fs		Somatic				EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Frame_Shift_Ins_p.E1014fs	p.E1048fs	NM_003750.2	NP_003741.1	WXS	Illumina GAIIx	Phase_I	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	19	3268_3269	-		Lung NSC(174;0.094)|all_lung(145;0.123)	1048			25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.		B7ZBG9|Q6IBN8|Q96TD5	Frame_Shift_Ins	INS	ENST00000369144.3	37	c.3141_3142insG	CCDS7608.1																																																																																				0.604	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		7	1585						7	1585	---	---	---	---
LINC00959	387723	broad.mit.edu	37	10	131905959	131905960	+	lincRNA	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:131905959_131905960insG	ENST00000456581.1	-	0	114									long intergenic non-protein coding RNA 959																		CTTTGCCTCCAGGGGGGGAAGG	0.53																																						ENST00000456581.1																			0																																																			387723							g.chr10:131905959_131905960insG			10q26.3	2013-06-06			ENSG00000237489	ENSG00000237489		"""Long non-coding RNAs"""	48677	non-coding RNA	RNA, long non-coding							Standard	NR_034125		Approved				OTTHUMG00000019268		10.37:g.131905966_131905966dupG			Somatic								WXS	Illumina GAIIx	Phase_I					0	114	-									RNA	INS	ENST00000456581.1	37																																																																																						0.530	LINC00959-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000051025.1			10	180						10	180	---	---	---	---
OR56B1	387748	broad.mit.edu	37	11	5758618	5758619	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:5758618_5758619insC	ENST00000317121.3	+	1	938_939	c.872_873insC	c.(871-876)atccccfs	p.IP291fs	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	291						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(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		CACAACATCATCCCCCCTTCCC	0.406																																						ENST00000317121.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13						c.(871-873)accfs		olfactory receptor, family 56, subfamily B, member 1																																				SO:0001589	frameshift_variant	387748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5758618_5758619insC	BK004386	CCDS31395.1	11p15.4	2012-08-09		2004-03-10	ENSG00000181023	ENSG00000181023		"""GPCR / Class A : Olfactory receptors"""	15245	protein-coding gene	gene with protein product				OR56B1P			Standard	NM_001005180		Approved		uc001mbt.2	Q8NGI3	OTTHUMG00000066891	ENST00000317121.3:c.878dupC	11.37:g.5758624_5758624dupC	ENSP00000322939:p.Ile291fs		Somatic				TRIM5_ENST00000380027.1_Intron	p.T291fs	NM_001005180.2	NP_001005180.1	WXS	Illumina GAIIx	Phase_I	Q8NGI3	O56B1_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)	1	938_939	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)	291					B2RNY6|B3KV42|Q6IF76	Frame_Shift_Ins	INS	ENST00000317121.3	37	c.872_873insC	CCDS31395.1																																																																																				0.406	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143354.1	NM_001005180		8	1305						8	1305	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6655045	6655046	+	Frame_Shift_Ins	INS	-	-	G	rs528648883	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:6655045_6655046insG	ENST00000299441.3	-	4	2603_2604	c.2192_2193insC	c.(2191-2193)ccafs	p.P731fs	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	731	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGTAAAAAGTGGGGGGCTGTT	0.604																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(2191-2193)cctfs		dachsous cadherin-related 1																																				SO:0001589	frameshift_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6655045_6655046insG	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.2193dupC	11.37:g.6655051_6655051dupG	ENSP00000299441:p.Pro731fs		Somatic				RP11-732A19.6_ENST00000526633.1_RNA	p.P731fs	NM_003737.2	NP_003728.1	WXS	Illumina GAIIx	Phase_I	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	2603_2604	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	731			Cadherin 7.		O15098	Frame_Shift_Ins	INS	ENST00000299441.3	37	c.2192_2193insC	CCDS7771.1																																																																																				0.604	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		8	604						8	604	---	---	---	---
PTPN5	84867	broad.mit.edu	37	11	18751285	18751286	+	Frame_Shift_Ins	INS	-	-	G	rs138509696		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:18751285_18751286insG	ENST00000358540.2	-	13	1839_1840	c.1409_1410insC	c.(1408-1410)ccafs	p.P470fs	RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396170.1_Frame_Shift_Ins_p.P438fs|PTPN5_ENST00000396168.1_Frame_Shift_Ins_p.P446fs|PTPN5_ENST00000396167.2_Frame_Shift_Ins_p.P438fs|PTPN5_ENST00000396166.3_Frame_Shift_Ins_p.P76fs|PTPN5_ENST00000477854.1_Frame_Shift_Ins_p.P274fs|PTPN5_ENST00000396171.4_Frame_Shift_Ins_p.P470fs	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	470	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GGTGCAGGAGTGGGGGGGCCCG	0.678																																						ENST00000396170.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						c.(1312-1314)cctfs		protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)																																				SO:0001589	frameshift_variant	84867					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr11:18751285_18751286insG	BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.1410dupC	11.37:g.18751292_18751292dupG	ENSP00000351342:p.Pro470fs		Somatic				PTPN5_ENST00000396167.2_Frame_Shift_Ins_p.P438fs|PTPN5_ENST00000477854.1_Frame_Shift_Ins_p.P274fs|PTPN5_ENST00000396168.1_Frame_Shift_Ins_p.P446fs|PTPN5_ENST00000396166.3_Frame_Shift_Ins_p.P76fs|PTPN5_ENST00000396171.4_Frame_Shift_Ins_p.P470fs|PTPN5_ENST00000358540.2_Frame_Shift_Ins_p.P470fs|RP11-1081L13.4_ENST00000527285.1_RNA	p.P438fs	NM_001278236.1	NP_001265165.1	WXS	Illumina GAIIx	Phase_I	P54829	PTN5_HUMAN			13	2577_2578	-			470			Tyrosine-protein phosphatase.		B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Frame_Shift_Ins	INS	ENST00000358540.2	37	c.1313_1314insC	CCDS7845.1																																																																																				0.678	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970		7	70						7	70	---	---	---	---
PAX6	5080	broad.mit.edu	37	11	31812316	31812317	+	Frame_Shift_Ins	INS	-	-	G	rs200015827		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:31812316_31812317insG	ENST00000379132.3	-	11	1404_1405	c.1124_1125insC	c.(1123-1125)ccafs	p.P375fs	PAX6_ENST00000419022.1_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000241001.8_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379123.5_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379129.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379115.4_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379111.2_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379107.2_Frame_Shift_Ins_p.P389fs			P26367	PAX6_HUMAN	paired box 6	375	Pro/Ser/Thr-rich.		P -> Q (in AN; reduced DNA binding ability; dbSNP:rs200015827). {ECO:0000269|PubMed:11309364}.		astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCTGCATATGTGGGGGGGTGTA	0.589									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																													ENST00000419022.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	GRCh37	CM011452	PAX6	M		c.(1165-1167)ccafs		paired box 6																																				SO:0001589	frameshift_variant	5080	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation	Familial Cancer Database	WAGR syndrome	blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	g.chr11:31812316_31812317insG	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.1125dupC	11.37:g.31812323_31812323dupG	ENSP00000368427:p.Pro375fs		Somatic				PAX6_ENST00000379129.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379111.2_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379123.5_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379115.4_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379107.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000241001.8_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379132.3_Frame_Shift_Ins_p.P375fs	p.P389fs	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	WXS	Illumina GAIIx	Phase_I	P26367	PAX6_HUMAN			13	1634_1635	-	Lung SC(675;0.225)		375			Pro/Ser/Thr-rich.		Q6N006|Q99413	Frame_Shift_Ins	INS	ENST00000379132.3	37	c.1166_1167insC	CCDS31451.1																																																																																				0.589	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604		7	166						7	166	---	---	---	---
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:48328524_48328525insC	ENST00000319988.1	+	1	750_751	c.750_751insC	c.(751-753)cccfs	p.P251fs		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGGTTCTCATGCCCCCCATGTT	0.48																																						ENST00000319988.1																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						c.(748-753)atccccfs		olfactory receptor, family 4, subfamily S, member 1																																				SO:0001589	frameshift_variant	256148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48328524_48328525insC	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.756dupC	11.37:g.48328530_48328530dupC	ENSP00000321447:p.Pro251fs		Somatic					p.IP250fs	NM_001004725.1	NP_001004725.1	WXS	Illumina GAIIx	Phase_I	Q8NGB4	OR4S1_HUMAN			1	750_751	+			250					Q6IFB4	Frame_Shift_Ins	INS	ENST00000319988.1	37	c.750_751insC	CCDS31488.1																																																																																				0.480	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		8	790						8	790	---	---	---	---
TNKS1BP1	85456	broad.mit.edu	37	11	57077336	57077336	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:57077336delT	ENST00000532437.1	-	5	3160	c.2849delA	c.(2848-2850)cagfs	p.Q950fs	TNKS1BP1_ENST00000358252.3_Frame_Shift_Del_p.Q950fs|TNKS1BP1_ENST00000530920.1_5'UTR			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	950	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CCCAAACTCCTGTTCCTGTGG	0.592																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2848-2850)cgfs		tankyrase 1 binding protein 1, 182kDa							92.0	105.0	100.0					11																	57077336		2201	4296	6497	SO:0001589	frameshift_variant	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57077336delT	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.2849delA	11.37:g.57077336delT	ENSP00000437271:p.Gln950fs		Somatic				TNKS1BP1_ENST00000530920.1_5'UTR|TNKS1BP1_ENST00000358252.3_Frame_Shift_Del_p.Q950fs	p.Q950fs			WXS	Illumina GAIIx	Phase_I	Q9C0C2	TB182_HUMAN			5	3160	-		all_epithelial(135;0.21)	950			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Frame_Shift_Del	DEL	ENST00000532437.1	37	c.2849delA	CCDS7951.1																																																																																				0.592	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		91	181						91	181	---	---	---	---
TMX2	51075	broad.mit.edu	37	11	57505845	57505846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:57505845_57505846insC	ENST00000278422.4	+	4	396_397	c.384_385insC	c.(385-387)cccfs	p.P129fs	TMX2-CTNND1_ENST00000528395.1_Intron|C11orf31_ENST00000534355.1_5'Flank|TMX2_ENST00000378312.4_Frame_Shift_Ins_p.P91fs	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	129	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TGACGTGCAAACCCCCCCTATA	0.421																																						ENST00000278422.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						c.(382-387)aaccccfs		thioredoxin-related transmembrane protein 2																																				SO:0001589	frameshift_variant	51075				cell redox homeostasis	integral to membrane		g.chr11:57505845_57505846insC	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"""Protein disulfide isomerases"""	30739	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 12"""		"""thioredoxin domain containing 14"""	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.391dupC	11.37:g.57505852_57505852dupC	ENSP00000278422:p.Pro129fs		Somatic				TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs	p.NP128fs	NM_015959.3	NP_057043.1	WXS	Illumina GAIIx	Phase_I	Q9Y320	TMX2_HUMAN			4	396_397	+			128			Thioredoxin.		B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Frame_Shift_Ins	INS	ENST00000278422.4	37	c.384_385insC	CCDS7967.1																																																																																				0.421	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		8	408						8	408	---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61093159	61093160	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:61093159_61093160insC	ENST00000301764.7	-	6	1082_1083	c.685_686insG	c.(685-687)gccfs	p.A229fs	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	229	Interaction with CDT1.|WD repeat beta-propeller A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						AATGATGATGGCCCCCCCAAAG	0.49								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(685-687)catfs	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa																																				SO:0001589	frameshift_variant	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61093159_61093160insC	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.686dupG	11.37:g.61093166_61093166dupC	ENSP00000301764:p.Ala229fs		Somatic				DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	p.H229fs	NM_001923.4	NP_001914.3	WXS	Illumina GAIIx	Phase_I	Q16531	DDB1_HUMAN			6	1082_1083	-			229			Interaction with CDT1.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Frame_Shift_Ins	INS	ENST00000301764.7	37	c.685_686insG	CCDS31576.1																																																																																				0.490	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		11	115						11	115	---	---	---	---
BSCL2	26580	broad.mit.edu	37	11	62458782	62458783	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:62458782_62458783insC	ENST00000403550.1	-	7	1205_1206	c.782_783insG	c.(781-783)ggcfs	p.G261fs	HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000278893.7_Intron|BSCL2_ENST00000433053.1_Frame_Shift_Ins_p.G325fs|BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.G261fs|LRRN4CL_ENST00000317449.4_5'Flank|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.G325fs|BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.G325fs|BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.G261fs			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	261					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GGGGCCAGATGCCCCCCCACAC	0.559																																						ENST00000433053.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12	GRCh37	CI033285	BSCL2	I		c.(973-975)gatfs		Berardinelli-Seip congenital lipodystrophy 2 (seipin)			,,	12,4252		0,12,2120					,,	3.3	0.9			68	10,8244		0,10,4117	no	frameshift,intron,frameshift	BSCL2	NM_032667.6,NM_001130702.2,NM_001122955.3	,,	0,22,6237	A1A1,A1R,RR		0.1212,0.2814,0.1757	,,	,,		22,12496				SO:0001589	frameshift_variant	26580				cell death	integral to endoplasmic reticulum membrane		g.chr11:62458782_62458783insC		CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"""spastic paraplegia 17 (Silver syndrome)"""	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.783dupG	11.37:g.62458789_62458789dupC	ENSP00000385561:p.Gly261fs		Somatic				BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000278893.7_Intron|BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000403550.1_Frame_Shift_Ins_p.D261fs|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.D325fs	p.D325fs			WXS	Illumina GAIIx	Phase_I	Q96G97	BSCL2_HUMAN			8	1530_1531	-			261					G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Frame_Shift_Ins	INS	ENST00000403550.1	37	c.974_975insG	CCDS8031.1																																																																																				0.559	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		10	192						10	192	---	---	---	---
RAB1B	81876	broad.mit.edu	37	11	66039887	66039888	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:66039887_66039888insG	ENST00000311481.6	+	4	382_383	c.235_236insG	c.(235-237)cggfs	p.R79fs	RAB1B_ENST00000527397.1_Intron|RP11-867G23.3_ENST00000501708.1_lincRNA	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	79	Switch 2 region; required for interaction with REP1/CHM.				ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of glycoprotein metabolic process (GO:1903020)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						CAGCTACTACCGGGGGGCTCAT	0.579																																						ENST00000311481.6																			0				large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						c.(235-237)gggfs		RAB1B, member RAS oncogene family																																				SO:0001589	frameshift_variant	81876				protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding	g.chr11:66039887_66039888insG	AJ245875	CCDS31613.1	11q13.1	2008-02-05			ENSG00000174903	ENSG00000174903		"""RAB, member RAS oncogene"""	18370	protein-coding gene	gene with protein product		612565				9030196	Standard	NM_030981		Approved		uc001ohf.3	Q9H0U4	OTTHUMG00000166916	ENST00000311481.6:c.241dupG	11.37:g.66039893_66039893dupG	ENSP00000310226:p.Arg79fs		Somatic				RAB1B_ENST00000527397.1_Intron|RP11-867G23.3_ENST00000501708.1_lincRNA	p.G79fs	NM_030981.2	NP_112243.1	WXS	Illumina GAIIx	Phase_I	Q9H0U4	RAB1B_HUMAN			4	382_383	+			79			Switch 2 region; required for interaction with REP1/CHM.		A8K7S1	Frame_Shift_Ins	INS	ENST00000311481.6	37	c.235_236insG	CCDS31613.1																																																																																				0.579	RAB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391886.2	NM_030981		9	341						9	341	---	---	---	---
ALDH3B2	222	broad.mit.edu	37	11	67433066	67433067	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:67433066_67433067insC	ENST00000349015.3	-	7	833_834	c.395_396insG	c.(394-396)ggcfs	p.G132fs	ALDH3B2_ENST00000531881.1_5'Flank|ALDH3B2_ENST00000530069.1_Frame_Shift_Ins_p.G132fs	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	132				G -> V (in Ref. 4; BAC03897). {ECO:0000305}.	alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						AGGGGTTCTTGCCCCCCAGCTC	0.644																																						ENST00000349015.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						c.(394-396)gaafs		aldehyde dehydrogenase 3 family, member B2	NADH(DB00157)																																			SO:0001589	frameshift_variant	222				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67433066_67433067insC	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.396dupG	11.37:g.67433072_67433072dupC	ENSP00000255084:p.Gly132fs		Somatic				ALDH3B2_ENST00000530069.1_Frame_Shift_Ins_p.E132fs	p.E132fs	NM_000695.3	NP_000686.2	WXS	Illumina GAIIx	Phase_I	P48448	AL3B2_HUMAN			7	833_834	-			132	G -> V (in Ref. 4; BAC03897).				Q53Y98|Q8NAL5|Q96IB2	Frame_Shift_Ins	INS	ENST00000349015.3	37	c.395_396insG	CCDS31622.1																																																																																				0.644	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695		13	626						13	626	---	---	---	---
KCTD21	283219	broad.mit.edu	37	11	77885567	77885568	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:77885567_77885568insC	ENST00000340067.3	-	2	311_312	c.33_34insG	c.(31-36)gggaagfs	p.K12fs	KCTD21-AS1_ENST00000528468.1_RNA|KCTD21-AS1_ENST00000523626.2_RNA|KCTD21-AS1_ENST00000530261.1_RNA|KCTD21-AS1_ENST00000600795.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	12	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)					breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			GTATAGAGCTTCCCCCCGACGT	0.574																																						ENST00000340067.3																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11						c.(31-36)ggagctfs		potassium channel tetramerization domain containing 21																																				SO:0001589	frameshift_variant	283219					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:77885567_77885568insC	AK095233	CCDS31645.1	11q14.1	2013-06-20	2013-06-20			ENSG00000188997			27452	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 21"""			21472142	Standard	XM_005273925		Approved	KCASH2	uc001ozb.3	Q4G0X4		ENST00000340067.3:c.34dupG	11.37:g.77885573_77885573dupC	ENSP00000339340:p.Lys12fs		Somatic				KCTD21-AS1_ENST00000600795.1_RNA	p.A12fs	NM_001029859.1	NP_001025030.1	WXS	Illumina GAIIx	Phase_I	Q4G0X4	KCD21_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)		2	311_312	-	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		12			BTB.		B4DTR0	Frame_Shift_Ins	INS	ENST00000340067.3	37	c.33_34insG	CCDS31645.1																																																																																				0.574	KCTD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390057.1	NM_001029859		7	224						7	224	---	---	---	---
SYTL2	54843	broad.mit.edu	37	11	85435355	85435356	+	Intron	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:85435355_85435356insG	ENST00000528231.1	-	8	1737				SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000354566.3_Frame_Shift_Ins_p.P715fs|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000525423.1_Frame_Shift_Ins_p.P715fs|SYTL2_ENST00000359152.5_Frame_Shift_Ins_p.P1239fs|SYTL2_ENST00000527523.1_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CCCTGTCCTCTGGGGGGGTTAC	0.48																																						ENST00000359152.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(3715-3717)cgafs		synaptotagmin-like 2																																				SO:0001627	intron_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85435355_85435356insG	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1460-3353->C	11.37:g.85435362_85435362dupG			Somatic				SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000525423.1_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000354566.3_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000524452.1_Intron	p.R1239fs	NM_206928.2	NP_996811.1	WXS	Illumina GAIIx	Phase_I	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	1	3715_3716	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	400					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Frame_Shift_Ins	INS	ENST00000528231.1	37	c.3716_3717insC	CCDS53688.1																																																																																				0.480	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		9	172						9	172	---	---	---	---
LOC643733	643733	broad.mit.edu	37	11	104778247	104778248	+	RNA	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:104778247_104778248insC	ENST00000532510.1	-	0	1184_1185																											TTCCACACATTCCCCCCAGGAT	0.505																																						ENST00000532510.1																			0																																																			643733							g.chr11:104778247_104778248insC																													11.37:g.104778253_104778253dupC			Somatic								WXS	Illumina GAIIx	Phase_I					0	1184_1185	-									RNA	INS	ENST00000532510.1	37																																																																																						0.505	RP11-693N9.2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000387738.1			7	199						7	199	---	---	---	---
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G	rs576548045		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:113076860_113076861insG	ENST00000533760.1	+	5	831_832	c.232_233insG	c.(232-234)cggfs	p.R78fs	NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.R195fs|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000316851.7_Frame_Shift_Ins_p.R186fs	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATCCTGGCACGGGGGGAGATC	0.495																																						ENST00000316851.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(556-558)gggfs		neural cell adhesion molecule 1																																				SO:0001589	frameshift_variant	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113076860_113076861insG		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.238dupG	11.37:g.113076866_113076866dupG	ENSP00000473281:p.Arg78fs		Somatic				NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs	p.G186fs	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	WXS	Illumina GAIIx	Phase_I	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	4	556_557	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	196			Ig-like C2-type 2.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Frame_Shift_Ins	INS	ENST00000533760.1	37	c.556_557insG																																																																																					0.495	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		13	902						13	902	---	---	---	---
SIK3	23387	broad.mit.edu	37	11	116733010	116733011	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:116733010_116733011insC	ENST00000292055.4	-	16	1853_1854	c.1818_1819insG	c.(1816-1821)gggcagfs	p.Q607fs	SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000375288.1_Frame_Shift_Ins_p.G38fs|SIK3_ENST00000375300.1_Frame_Shift_Ins_p.Q665fs|SIK3_ENST00000542607.1_Frame_Shift_Ins_p.Q607fs|SIK3_ENST00000434315.2_Frame_Shift_Ins_p.Q506fs|SIK3_ENST00000446921.2_Frame_Shift_Ins_p.Q665fs	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	607	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCATCAATCTGCCCCCCGTACA	0.5																																						ENST00000375300.1																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(1990-1995)ggagatfs		SIK family kinase 3																																				SO:0001589	frameshift_variant	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116733010_116733011insC	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.1819dupG	11.37:g.116733016_116733016dupC	ENSP00000292055:p.Gln607fs		Somatic				SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000542607.1_Frame_Shift_Ins_p.D607fs|SIK3_ENST00000446921.2_Frame_Shift_Ins_p.D665fs|SIK3_ENST00000434315.2_Frame_Shift_Ins_p.D506fs|SIK3_ENST00000375288.1_Frame_Shift_Ins_p.E38fs|SIK3_ENST00000292055.4_Frame_Shift_Ins_p.D607fs	p.D665fs			WXS	Illumina GAIIx	Phase_I	Q9Y2K2	SIK3_HUMAN			16	1997_1998	-			607			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Frame_Shift_Ins	INS	ENST00000292055.4	37	c.1992_1993insG	CCDS8379.1																																																																																				0.500	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		8	419						8	419	---	---	---	---
CCDC153	283152	broad.mit.edu	37	11	119061042	119061043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:119061042_119061043insG	ENST00000503566.2	-	6	598_599	c.599_600insC	c.(598-600)cctfs	p.P200fs	CCDC153_ENST00000415318.1_Frame_Shift_Ins_p.P200fs			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	200										lung(3)|stomach(1)	4						TCAAAGATCCAGGGGGGGTGAG	0.569																																						ENST00000503566.2																			0				lung(3)|stomach(1)	4						c.(598-600)cggfs		coiled-coil domain containing 153				6,4256		0,6,2125						3.6	1.0			88	8,8244		0,8,4118	no	frameshift	CCDC153	NM_001145018.1		0,14,6243	A1A1,A1R,RR		0.0969,0.1408,0.1119				14,12500				SO:0001589	frameshift_variant	283152							g.chr11:119061042_119061043insG		CCDS44753.1	11q23.3	2011-07-22			ENSG00000248712	ENSG00000248712			27446	protein-coding gene	gene with protein product						12477932	Standard	NM_001145018		Approved	LOC283152	uc010rze.2	Q494R4	OTTHUMG00000156903	ENST00000503566.2:c.600dupC	11.37:g.119061049_119061049dupG	ENSP00000423567:p.Pro200fs		Somatic				CCDC153_ENST00000415318.1_Frame_Shift_Ins_p.R200fs	p.R200fs			WXS	Illumina GAIIx	Phase_I	Q494R4	CC153_HUMAN			6	598_599	-			200						Frame_Shift_Ins	INS	ENST00000503566.2	37	c.599_600insC	CCDS44753.1																																																																																				0.569	CCDC153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388331.2	NM_001033658		8	278						8	278	---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:123900396_123900397insC	ENST00000431524.1	+	1	100_101	c.67_68insC	c.(67-69)gccfs	p.A23fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A23T(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGCGCTGGACGCCCCCCTCTTT	0.589																																						ENST00000431524.1																			1	Substitution - Missense(1)	p.A23T(1)	endometrium(1)	breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(67-69)cccfs		olfactory receptor, family 10, subfamily G, member 8																																				SO:0001589	frameshift_variant	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900396_123900397insC	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.73dupC	11.37:g.123900402_123900402dupC	ENSP00000389072:p.Ala23fs		Somatic					p.P23fs	NM_001004464.1	NP_001004464.1	WXS	Illumina GAIIx	Phase_I	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	100_101	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	23					B2RNJ3|Q6IEV2	Frame_Shift_Ins	INS	ENST00000431524.1	37	c.67_68insC	CCDS31704.1																																																																																				0.589	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		12	1044						12	1044	---	---	---	---
IGSF9B	22997	broad.mit.edu	37	11	133807826	133807827	+	Frame_Shift_Ins	INS	-	-	G	rs567657119		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:133807826_133807827insG	ENST00000321016.8	-	4	669_670	c.439_440insC	c.(439-441)cagfs	p.Q147fs	IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.Q147fs			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	147	Ig-like 2.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTCGATGTACTGGGGGGGTGTT	0.574																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(439-441)gtafs		immunoglobulin superfamily, member 9B																																				SO:0001589	frameshift_variant	22997					integral to membrane|plasma membrane		g.chr11:133807826_133807827insG	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.440dupC	11.37:g.133807833_133807833dupG	ENSP00000317980:p.Gln147fs		Somatic				IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.V147fs	p.V147fs			WXS	Illumina GAIIx	Phase_I	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	4	669_670	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	147			Ig-like 2.		G5EA26	Frame_Shift_Ins	INS	ENST00000321016.8	37	c.439_440insC																																																																																					0.574	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		7	169						7	169	---	---	---	---
JAM3	83700	broad.mit.edu	37	11	134018467	134018468	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:134018467_134018468insG	ENST00000299106.4	+	7	897_898	c.738_739insG	c.(739-741)gggfs	p.G247fs	JAM3_ENST00000441717.3_Frame_Shift_Ins_p.G196fs|JAM3_ENST00000529443.2_Frame_Shift_Ins_p.G292fs|NCAPD3_ENST00000526787.2_5'Flank			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	247					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|establishment of cell polarity (GO:0030010)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|myelination (GO:0042552)|myeloid progenitor cell differentiation (GO:0002318)|neutrophil homeostasis (GO:0001780)|regulation of actin cytoskeleton organization by cell-cell adhesion (GO:0090138)|regulation of neutrophil chemotaxis (GO:0090022)|spermatid development (GO:0007286)|transmission of nerve impulse (GO:0019226)	cell-cell contact zone (GO:0044291)|desmosome (GO:0030057)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	integrin binding (GO:0005178)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		GCGGAATTATTGGGGGGGTTCT	0.485																																						ENST00000299106.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10						c.(736-741)atggggfs		junctional adhesion molecule 3																																				SO:0001589	frameshift_variant	83700				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding	g.chr11:134018467_134018468insG	AF356518	CCDS8494.1, CCDS55799.1, CCDS8494.2	11q25	2013-01-29			ENSG00000166086	ENSG00000166086		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15532	protein-coding gene	gene with protein product		606871					Standard	NM_032801		Approved	JAM-C, JAMC	uc001qhb.3	Q9BX67	OTTHUMG00000167130	ENST00000299106.4:c.745dupG	11.37:g.134018474_134018474dupG	ENSP00000299106:p.Gly247fs		Somatic				JAM3_ENST00000529443.2_Frame_Shift_Ins_p.MG291fs|JAM3_ENST00000441717.3_Frame_Shift_Ins_p.MG195fs	p.MG246fs			WXS	Illumina GAIIx	Phase_I	Q9BX67	JAM3_HUMAN		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)	7	897_898	+	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)	246					B3KWG9|Q8WWL8|Q96FL1	Frame_Shift_Ins	INS	ENST00000299106.4	37	c.738_739insG	CCDS8494.2																																																																																				0.485	JAM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393303.4	NM_032801		12	316						12	316	---	---	---	---
ATN1	1822	broad.mit.edu	37	12	7045534	7045535	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:7045534_7045535insC	ENST00000356654.4	+	5	1341_1342	c.1104_1105insC	c.(1105-1107)cccfs	p.P369fs	ATN1_ENST00000396684.2_Frame_Shift_Ins_p.P369fs	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	369					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CTGCTCCAGCGCCCCCCATGAG	0.589																																						ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1102-1107)gcccccfs		atrophin 1																																				SO:0001589	frameshift_variant	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7045534_7045535insC	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1110dupC	12.37:g.7045540_7045540dupC	ENSP00000349076:p.Pro369fs		Somatic				ATN1_ENST00000396684.2_Frame_Shift_Ins_p.AP368fs	p.AP368fs	NM_001007026.1	NP_001007027.1	WXS	Illumina GAIIx	Phase_I	P54259	ATN1_HUMAN			5	1341_1342	+			368					Q99495|Q99621|Q9UEK7	Frame_Shift_Ins	INS	ENST00000356654.4	37	c.1104_1105insC	CCDS31734.1																																																																																				0.589	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		7	409						7	409	---	---	---	---
C1S	716	broad.mit.edu	37	12	7171652	7171653	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:7171652_7171653insC	ENST00000406697.1	+	8	1101_1102	c.473_474insC	c.(472-477)tgccccfs	p.CP158fs	C1S_ENST00000360817.5_Frame_Shift_Ins_p.CP158fs|C1S_ENST00000402681.3_5'UTR|C1S_ENST00000328916.3_Frame_Shift_Ins_p.CP158fs			P09871	C1S_HUMAN	complement component 1, s subcomponent	158	EGF-like; calcium-binding.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTCTGCTCCTGCCCCCCGGAAT	0.455																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(472-474)tccfs		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)																																			SO:0001589	frameshift_variant	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7171652_7171653insC		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.479dupC	12.37:g.7171658_7171658dupC	ENSP00000385035:p.Cys158fs		Somatic				C1S_ENST00000328916.3_Frame_Shift_Ins_p.S158fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.S158fs|C1S_ENST00000402681.3_5'UTR	p.S158fs			WXS	Illumina GAIIx	Phase_I	P09871	C1S_HUMAN			8	1101_1102	+			158			EGF-like; calcium-binding.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Frame_Shift_Ins	INS	ENST00000406697.1	37	c.473_474insC	CCDS31735.1																																																																																				0.455	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		10	429						10	429	---	---	---	---
CLSTN3	9746	broad.mit.edu	37	12	7288059	7288060	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:7288059_7288060insC	ENST00000266546.6	+	4	970_971	c.520_521insC	c.(520-522)tccfs	p.S174fs	CLSTN3_ENST00000537408.1_Frame_Shift_Ins_p.S186fs	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	174	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CGGTGACTGCTCCCCCCAGTAC	0.574																																						ENST00000537408.1																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						c.(556-558)cccfs		calsyntenin 3																																				SO:0001589	frameshift_variant	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7288059_7288060insC	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.526dupC	12.37:g.7288065_7288065dupC	ENSP00000266546:p.Ser174fs		Somatic				CLSTN3_ENST00000266546.6_Frame_Shift_Ins_p.P174fs	p.P186fs			WXS	Illumina GAIIx	Phase_I	Q9BQT9	CSTN3_HUMAN			3	1094_1095	+			174			Cadherin 2.		D3DUT6|O94831|Q2T9J5|Q5UE57	Frame_Shift_Ins	INS	ENST00000266546.6	37	c.556_557insC	CCDS8575.1																																																																																				0.574	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		38	1219						38	1219	---	---	---	---
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:13142224_13142225insC	ENST00000014930.4	-	2	361_362	c.203_204insG	c.(202-204)ggcfs	p.G68fs	HEBP1_ENST00000536942.1_Frame_Shift_Ins_p.G68fs	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554																																						ENST00000536942.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7						c.(202-204)gacfs		heme binding protein 1																																				SO:0001589	frameshift_variant	50865				circadian rhythm	extracellular region		g.chr12:13142224_13142225insC	AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"""Endogenous ligands"""	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771	ENST00000014930.4:c.204dupG	12.37:g.13142230_13142230dupC	ENSP00000014930:p.Gly68fs		Somatic				HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs	p.D68fs			WXS	Illumina GAIIx	Phase_I	Q9NRV9	HEBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.153)	2	353_354	-		Prostate(47;0.183)	68					A8K1G2|Q9Y5Z5	Frame_Shift_Ins	INS	ENST00000014930.4	37	c.203_204insG	CCDS31749.1																																																																																				0.554	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1			25	1035						25	1035	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206|rs398122823		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:14019043_14019044insG	ENST00000609686.1	-	2	308_309	c.99_100insC	c.(97-102)cccagcfs	p.S34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATGCCAATGCTGGGGGGGCTCT	0.589																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(97-102)ccgcatfs		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)																																			SO:0001589	frameshift_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:14019043_14019044insG		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.100dupC	12.37:g.14019050_14019050dupG	ENSP00000477455:p.Ser34fs		Somatic					p.H34fs	NM_000834.3	NP_000825.2	WXS	Illumina GAIIx	Phase_I	Q13224	NMDE2_HUMAN			2	308_309	-			34					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Frame_Shift_Ins	INS	ENST00000609686.1	37	c.99_100insC	CCDS8662.1																																																																																				0.589	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			10	204						10	204	---	---	---	---
EIF4B	1975	broad.mit.edu	37	12	53427591	53427592	+	Splice_Site	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:53427591_53427592insC	ENST00000262056.9	+	9	1307_1308	c.981_982insC	c.(982-984)ccc>Cccc	p.P328fs	EIF4B_ENST00000420463.3_Splice_Site_p.P328fs|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Splice_Site_p.P289fs	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	328	Arg-rich.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						TTAACTTAGGTCCCCCCCAAAG	0.426																																						ENST00000262056.9																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						c.e9-1		eukaryotic translation initiation factor 4B																																				SO:0001630	splice_region_variant	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53427591_53427592insC	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.980-1->C	12.37:g.53427598_53427598dupC			Somatic				EIF4B_ENST00000420463.3_Splice_Site_p.GP327_splice|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Splice_Site_p.GP288_splice	p.GP327_splice	NM_001417.4	NP_001408.2	WXS	Illumina GAIIx	Phase_I	P23588	IF4B_HUMAN			9	1307_1308	+			327			Arg-rich.		Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Splice_Site	INS	ENST00000262056.9	37	c.979_splice	CCDS41788.1																																																																																				0.426	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417	Frame_Shift_Ins	9	73						9	73	---	---	---	---
NEUROD4	58158	broad.mit.edu	37	12	55421127	55421128	+	Frame_Shift_Ins	INS	-	-	C	rs201995432		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:55421127_55421128insC	ENST00000242994.3	+	2	1282_1283	c.904_905insC	c.(904-906)accfs	p.T302fs		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	302					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCAGGCTGGTACCCCCCGTTAT	0.465																																						ENST00000242994.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(904-906)cccfs		neuronal differentiation 4																																				SO:0001589	frameshift_variant	58158				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:55421127_55421128insC	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.910dupC	12.37:g.55421133_55421133dupC	ENSP00000242994:p.Thr302fs		Somatic					p.P302fs	NM_021191.2	NP_067014.2	WXS	Illumina GAIIx	Phase_I	Q9HD90	NDF4_HUMAN			2	1282_1283	+			302					B2RAC9	Frame_Shift_Ins	INS	ENST00000242994.3	37	c.904_905insC	CCDS8886.1																																																																																				0.465	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1			22	2913						22	2913	---	---	---	---
STAT2	6773	broad.mit.edu	37	12	56742816	56742817	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:56742816_56742817insG	ENST00000314128.4	-	17	1490_1491	c.1467_1468insC	c.(1465-1470)cccaagfs	p.K490fs	STAT2_ENST00000557235.1_Frame_Shift_Ins_p.K486fs|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000418572.2_3'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	490					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGGGGGCCTTGGGGGGGTTGG	0.594																																						ENST00000314128.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						c.(1465-1470)ccaggcfs		signal transducer and activator of transcription 2, 113kDa																																				SO:0001589	frameshift_variant	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56742816_56742817insG	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1468dupC	12.37:g.56742823_56742823dupG	ENSP00000315768:p.Lys490fs		Somatic				STAT2_ENST00000418572.2_3'UTR|STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs|STAT2_ENST00000556539.1_5'UTR	p.G490fs			WXS	Illumina GAIIx	Phase_I	P52630	STAT2_HUMAN			17	1490_1491	-			490					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Frame_Shift_Ins	INS	ENST00000314128.4	37	c.1467_1468insC	CCDS8917.1																																																																																				0.594	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		12	263						12	263	---	---	---	---
STAT6	6778	broad.mit.edu	37	12	57499093	57499094	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:57499093_57499094insG	ENST00000300134.3	-	9	1166_1167	c.841_842insC	c.(841-843)cagfs	p.Q281fs	STAT6_ENST00000537215.2_Frame_Shift_Ins_p.Q171fs|STAT6_ENST00000556155.1_Frame_Shift_Ins_p.Q281fs|STAT6_ENST00000538913.2_Frame_Shift_Ins_p.Q171fs|STAT6_ENST00000543873.2_Frame_Shift_Ins_p.Q281fs|STAT6_ENST00000454075.3_Frame_Shift_Ins_p.Q281fs	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	281					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CTTCAGTACCTGGGGGGGCTGC	0.639																																						ENST00000300134.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(841-843)ggtfs		signal transducer and activator of transcription 6, interleukin-4 induced																																				SO:0001589	frameshift_variant	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57499093_57499094insG	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.842dupC	12.37:g.57499100_57499100dupG	ENSP00000300134:p.Gln281fs		Somatic				STAT6_ENST00000543873.2_Frame_Shift_Ins_p.G281fs|STAT6_ENST00000454075.3_Frame_Shift_Ins_p.G281fs|STAT6_ENST00000537215.2_Frame_Shift_Ins_p.G171fs|STAT6_ENST00000556155.1_Frame_Shift_Ins_p.G281fs|STAT6_ENST00000538913.2_Frame_Shift_Ins_p.G171fs	p.G281fs	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	WXS	Illumina GAIIx	Phase_I	P42226	STAT6_HUMAN			9	1166_1167	-			281					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Frame_Shift_Ins	INS	ENST00000300134.3	37	c.841_842insC	CCDS8931.1																																																																																				0.639	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		11	173						11	173	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57556222	57556223	+	Frame_Shift_Ins	INS	-	-	C	rs34108076		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:57556222_57556223insC	ENST00000243077.3	+	14	2791_2792	c.2325_2326insC	c.(2326-2328)cccfs	p.P776fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	776					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)	TAGGAGGCGCACCCCCCACTGT	0.604																																						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.(2323-2328)gcccccfs		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57556222_57556223insC	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.2331dupC	12.37:g.57556228_57556228dupC	ENSP00000243077:p.Pro776fs		Somatic					p.AP775fs	NM_002332.2	NP_002323.2	WXS	Illumina GAIIx	Phase_I	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	14	2791_2792	+			775					Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Ins	INS	ENST00000243077.3	37	c.2325_2326insC	CCDS8932.1																																																																																				0.604	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		11	332						11	332	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57572241	57572242	+	Frame_Shift_Ins	INS	-	-	G	rs139915490		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:57572241_57572242insG	ENST00000243077.3	+	27	4927_4928	c.4461_4462insG	c.(4462-4464)gggfs	p.G1488fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1488					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACGCTGTACGGGGGGGAGGT	0.589																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(4459-4464)taggggfs		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57572241_57572242insG	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4468dupG	12.37:g.57572248_57572248dupG	ENSP00000243077:p.Gly1488fs		Somatic					p.*G1487fs	NM_002332.2	NP_002323.2	WXS	Illumina GAIIx	Phase_I	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	27	4927_4928	+			1487					Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Ins	INS	ENST00000243077.3	37	c.4461_4462insG	CCDS8932.1																																																																																				0.589	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		17	323						17	323	---	---	---	---
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G	rs368789621		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:57860074_57860075insG	ENST00000228682.2	+	8	905_906	c.814_815insG	c.(814-816)tggfs	p.W272fs	GLI1_ENST00000546141.1_Frame_Shift_Ins_p.W231fs|GLI1_ENST00000543426.1_Frame_Shift_Ins_p.W144fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTGC	0.599																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(814-816)gggfs		GLI family zinc finger 1																																				SO:0001589	frameshift_variant	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57860074_57860075insG		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.821dupG	12.37:g.57860081_57860081dupG	ENSP00000228682:p.Trp272fs		Somatic				GLI1_ENST00000546141.1_Frame_Shift_Ins_p.G231fs|GLI1_ENST00000543426.1_Frame_Shift_Ins_p.G144fs	p.G272fs	NM_005269.2	NP_005260.1	WXS	Illumina GAIIx	Phase_I	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		8	905_906	+			272					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Frame_Shift_Ins	INS	ENST00000228682.2	37	c.814_815insG	CCDS8940.1																																																																																				0.599	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		42	940						42	940	---	---	---	---
DCTN2	10540	broad.mit.edu	37	12	57927805	57927806	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:57927805_57927806insG	ENST00000548249.1	-	7	866_867	c.599_600insC	c.(598-600)ccafs	p.P200fs	DCTN2_ENST00000543672.1_Frame_Shift_Ins_p.P205fs|DCTN2_ENST00000537439.1_Frame_Shift_Ins_p.P177fs|DCTN2_ENST00000551400.1_5'Flank|DCTN2_ENST00000434715.3_Frame_Shift_Ins_p.P205fs	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	200					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|vesicle (GO:0031982)	motor activity (GO:0003774)|spectrin binding (GO:0030507)			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						GGCTGCTATCTGGGGGGGTCCC	0.5																																						ENST00000548249.1																			0				endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						c.(598-600)cgafs		dynactin 2 (p50)																																				SO:0001589	frameshift_variant	10540				cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding	g.chr12:57927805_57927806insG	U50733	CCDS44930.1, CCDS58245.1, CCDS73489.1	12q13.3	2008-05-14				ENSG00000175203			2712	protein-coding gene	gene with protein product		607376				8647893	Standard	NM_001261412		Approved	RBP50, DCTN-50	uc001som.2	Q13561	OTTHUMG00000170124	ENST00000548249.1:c.600dupC	12.37:g.57927812_57927812dupG	ENSP00000447824:p.Pro200fs		Somatic				DCTN2_ENST00000434715.3_Frame_Shift_Ins_p.R205fs|DCTN2_ENST00000543672.1_Frame_Shift_Ins_p.R205fs|DCTN2_ENST00000537439.1_Frame_Shift_Ins_p.R177fs	p.R200fs	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	WXS	Illumina GAIIx	Phase_I	Q13561	DCTN2_HUMAN			7	866_867	-			200					B2RBK5|Q86YN2|Q9BW17	Frame_Shift_Ins	INS	ENST00000548249.1	37	c.599_600insC	CCDS58245.1																																																																																				0.500	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407393.2	NM_006400		10	269						10	269	---	---	---	---
KIF5A	3798	broad.mit.edu	37	12	57972047	57972048	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:57972047_57972048insG	ENST00000455537.2	+	23	2734_2735	c.2460_2461insG	c.(2461-2463)gggfs	p.G821fs	KIF5A_ENST00000286452.5_Frame_Shift_Ins_p.G732fs	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	821					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CCGAAGACAGTGGGGGGATTCA	0.505																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(2458-2463)agggggfs		kinesin family member 5A																																				SO:0001589	frameshift_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57972047_57972048insG	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2466dupG	12.37:g.57972053_57972053dupG	ENSP00000408979:p.Gly821fs		Somatic				KIF5A_ENST00000286452.5_Frame_Shift_Ins_p.RG731fs	p.RG820fs	NM_004984.2	NP_004975.2	WXS	Illumina GAIIx	Phase_I	Q12840	KIF5A_HUMAN			23	2734_2735	+			820					A6H8M5|Q4LE26	Frame_Shift_Ins	INS	ENST00000455537.2	37	c.2460_2461insG	CCDS8945.1																																																																																				0.505	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		13	947						13	947	---	---	---	---
SLC26A10	65012	broad.mit.edu	37	12	58014153	58014154	+	Frame_Shift_Ins	INS	-	-	C	rs143040192		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:58014153_58014154insC	ENST00000320442.4	+	1	461_462	c.150_151insC	c.(151-153)cccfs	p.P51fs	SLC26A10_ENST00000379218.2_Frame_Shift_Ins_p.P51fs|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000356672.3_RNA	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	51						integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TGGCCTCCGTGCCCCCGGTGTT	0.564																																						ENST00000379218.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19						c.(148-153)gtccccfs		solute carrier family 26, member 10																																				SO:0001589	frameshift_variant	65012					integral to membrane	antiporter activity	g.chr12:58014153_58014154insC		CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"""Solute carriers"""	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.155dupC	12.37:g.58014158_58014158dupC	ENSP00000320217:p.Pro51fs		Somatic				SLC26A10_ENST00000320442.4_Frame_Shift_Ins_p.VP50fs	p.VP50fs			WXS	Illumina GAIIx	Phase_I	Q8NG04	S2610_HUMAN			1	461_462	+	Melanoma(17;0.122)		50					A6NMJ2|B6ZDQ3|Q6ZWI7	Frame_Shift_Ins	INS	ENST00000320442.4	37	c.150_151insC	CCDS8949.2																																																																																				0.564	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250311.2			10	2670						10	2670	---	---	---	---
CDK4	1019	broad.mit.edu	37	12	58143030	58143031	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:58143030_58143031insG	ENST00000257904.6	-	7	1118_1119	c.753_754insC	c.(751-756)cccagafs	p.R252fs	CDK4_ENST00000540325.1_Frame_Shift_Ins_p.R132fs|CDK4_ENST00000312990.6_3'UTR|CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000549606.1_5'UTR|TSPAN31_ENST00000547992.1_3'UTR	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	252	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CGGGGCCCTCTGGGGGGAAAGG	0.624			Mis			melanoma			Hereditary Melanoma																													ENST00000257904.6			yes	Dom		Familial malignant melanoma	12	12q14	1019	Mis	cyclin-dependent kinase 4			E		melanoma			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21						c.(751-756)ccgaggfs		cyclin-dependent kinase 4																																				SO:0001589	frameshift_variant	1019	Hereditary Melanoma	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr12:58143030_58143031insG	M14505	CCDS8953.1	12q13	2014-09-17				ENSG00000135446		"""Cyclin-dependent kinases"""	1773	protein-coding gene	gene with protein product		123829				8275715	Standard	NM_000075		Approved	PSK-J3	uc001spv.3	P11802		ENST00000257904.6:c.754dupC	12.37:g.58143036_58143036dupG	ENSP00000257904:p.Arg252fs		Somatic				CDK4_ENST00000551888.1_5'UTR|TSPAN31_ENST00000547992.1_3'UTR|CDK4_ENST00000549606.1_5'UTR|CDK4_ENST00000540325.1_Frame_Shift_Ins_p.R132fs|CDK4_ENST00000312990.6_3'UTR	p.R252fs	NM_000075.3	NP_000066.1	WXS	Illumina GAIIx	Phase_I	P11802	CDK4_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		7	1118_1119	-	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		252			Protein kinase.		B2R9A0|B4DNF9|O00576|Q6FG61	Frame_Shift_Ins	INS	ENST00000257904.6	37	c.753_754insC	CCDS8953.1																																																																																				0.624	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408790.2	NM_000075		7	246						7	246	---	---	---	---
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C	rs577942747		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:69233089_69233090insC	ENST00000350057.5	+	9	861_862	c.861_862insC	c.(862-864)cccfs	p.P288fs	MDM2_ENST00000545204.1_Intron|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.P118fs|MDM2_ENST00000462284.1_Frame_Shift_Ins_p.P319fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.P258fs|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.P40fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.P87fs|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.P92fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.P264fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.P143fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.P118fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.P143fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.P40fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.P65fs|MDM2_ENST00000478070.1_3'UTR|RP11-611O2.5_ENST00000553141.1_RNA			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	313	ARF-binding.|Asp/Glu-rich (acidic).|Interaction with MTBP. {ECO:0000250}.|Necessary for interaction with USP2.|Region II.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTCC	0.426			A		"""sarcoma, glioma, colorectal, other"""																																	ENST00000462284.1				Dom	yes		12	12q15	4193	A	Mdm2 p53 binding protein homolog			"""M, O, E, L"""			"""sarcoma, glioma, colorectal, other"""		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19						c.(952-957)aaccccfs		MDM2 oncogene, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	4193				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:69233089_69233090insC		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.868dupC	12.37:g.69233096_69233096dupC	ENSP00000266624:p.Pro288fs		Somatic				MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000545204.1_Intron	p.NP318fs	NM_002392.4	NP_002383.2	WXS	Illumina GAIIx	Phase_I	Q00987	MDM2_HUMAN	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		11	1256_1257	+	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		312			Necessary for interaction with USP2.|Region II.		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Frame_Shift_Ins	INS	ENST00000350057.5	37	c.954_955insC																																																																																					0.426	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880		26	376						26	376	---	---	---	---
E2F7	144455	broad.mit.edu	37	12	77419716	77419717	+	Frame_Shift_Ins	INS	-	-	G	rs36042830		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:77419716_77419717insG	ENST00000322886.7	-	12	2421_2422	c.2186_2187insC	c.(2185-2187)cctfs	p.P729fs	E2F7_ENST00000416496.2_Intron	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	729					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						GGCCCACAGTAGGGGGGGTTTG	0.465																																						ENST00000322886.7																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						c.(2185-2187)cacfs		E2F transcription factor 7				7,4255		0,7,2124						-2.7	0.0		dbSNP_126	36	4,8250		0,4,4123	no	frameshift	E2F7	NM_203394.2		0,11,6247	A1A1,A1R,RR		0.0485,0.1642,0.0879				11,12505				SO:0001589	frameshift_variant	144455				cell cycle	transcription factor complex	DNA binding|identical protein binding	g.chr12:77419716_77419717insG	BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.2187dupC	12.37:g.77419723_77419723dupG	ENSP00000323246:p.Pro729fs		Somatic				E2F7_ENST00000416496.2_Intron	p.H729fs	NM_203394.2	NP_976328.2	WXS	Illumina GAIIx	Phase_I	Q96AV8	E2F7_HUMAN			12	2421_2422	-			729					A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Frame_Shift_Ins	INS	ENST00000322886.7	37	c.2186_2187insC	CCDS9016.1																																																																																				0.465	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		7	59						7	59	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1197)cgccccfs	p.RP398fs	NAV3_ENST00000536525.2_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.RP398fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	398						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGCTTTACGCCCCCCGCAGC	0.495										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1192-1194)cccfs		neuron navigator 3				2,3746		0,2,1872						4.8	1.0			90	1,7917		0,1,3958	no	frameshift	NAV3	NM_014903.4		0,3,5830	A1A1,A1R,RR		0.0126,0.0534,0.0257				3,11663				SO:0001589	frameshift_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400511_78400512insC	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1199dupC	12.37:g.78400517_78400517dupC	ENSP00000381007:p.Arg398fs	HNSCC(70;0.22)	Somatic				NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs	p.P398fs			WXS	Illumina GAIIx	Phase_I	Q8IVL0	NAV3_HUMAN			8	1366_1367	+			398					Q8NFW7|Q9Y2E7	Frame_Shift_Ins	INS	ENST00000397909.2	37	c.1193_1194insC																																																																																					0.495	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		15	277						15	277	---	---	---	---
TMCC3	57458	broad.mit.edu	37	12	94975857	94975858	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:94975857_94975858insG	ENST00000261226.4	-	2	666_667	c.535_536insC	c.(535-537)catfs	p.H179fs	TMCC3_ENST00000551457.1_Frame_Shift_Ins_p.H148fs	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	179						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CTCCATGCAATGGGGGGCAGTT	0.495																																						ENST00000261226.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						c.(535-537)ttgfs		transmembrane and coiled-coil domain family 3																																				SO:0001589	frameshift_variant	57458					integral to membrane		g.chr12:94975857_94975858insG	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.536dupC	12.37:g.94975863_94975863dupG	ENSP00000261226:p.His179fs		Somatic				TMCC3_ENST00000551457.1_Frame_Shift_Ins_p.L148fs	p.L179fs	NM_020698.2	NP_065749.2	WXS	Illumina GAIIx	Phase_I	Q9ULS5	TMCC3_HUMAN			2	666_667	-			179					Q8IWB2	Frame_Shift_Ins	INS	ENST00000261226.4	37	c.535_536insC	CCDS31877.1																																																																																				0.495	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		7	399						7	399	---	---	---	---
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G	rs550401137		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)ccafs	p.P1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.P722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCTC	0.371																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(3214-3216)cgtfs		UHRF1 binding protein 1-like																																				SO:0001589	frameshift_variant	23074							g.chr12:100451839_100451840insG		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3216dupC	12.37:g.100451846_100451846dupG	ENSP00000279907:p.Pro1072fs		Somatic				UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs	p.R1072fs	NM_015054.1	NP_055869.1	WXS	Illumina GAIIx	Phase_I	A0JNW5	UH1BL_HUMAN			14	3427_3428	-			1072					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Frame_Shift_Ins	INS	ENST00000279907.7	37	c.3215_3216insC	CCDS31882.1																																																																																				0.371	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		8	172						8	172	---	---	---	---
ALDH2	217	broad.mit.edu	37	12	112229926	112229927	+	Frame_Shift_Ins	INS	-	-	G	rs554937672		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:112229926_112229927insG	ENST00000261733.2	+	8	918_919	c.857_858insG	c.(856-861)ctggggfs	p.LG286fs	ALDH2_ENST00000416293.3_Frame_Shift_Ins_p.LG239fs	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	286					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)	p.K289fs*45(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	ACCTTGGAGCTGGGGGGGAAGA	0.574			T	HMGA2	leiomyoma																																	ENST00000261733.2				Dom	yes		12	12q24.2	217	T	aldehyde dehydrogenase 2 family (mitochondrial)			M	HMGA2		leiomyoma		2	Insertion - Frameshift(2)	p.K289fs*45(2)	ovary(2)	NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22						c.(856-858)cggfs		aldehyde dehydrogenase 2 family (mitochondrial)	Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)		,	7,4257		0,7,2125					,	5.4	1.0			54	5,8249		0,5,4122	no	frameshift,frameshift	ALDH2	NM_001204889.1,NM_000690.3	,	0,12,6247	A1A1,A1R,RR		0.0606,0.1642,0.0959	,	,		12,12506				SO:0001589	frameshift_variant	217				carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr12:112229926_112229927insG	M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"""Aldehyde dehydrogenases"""	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.864dupG	12.37:g.112229933_112229933dupG	ENSP00000261733:p.Leu286fs		Somatic				ALDH2_ENST00000416293.3_Frame_Shift_Ins_p.R239fs	p.R286fs	NM_000690.3	NP_000681.2	WXS	Illumina GAIIx	Phase_I	P05091	ALDH2_HUMAN			8	918_919	+			286					B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Frame_Shift_Ins	INS	ENST00000261733.2	37	c.857_858insG	CCDS9155.1																																																																																				0.574	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1	NM_000690		7	99						7	99	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112600859	112600860	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:112600859_112600860insG	ENST00000430131.2	-	74	12985_12986	c.11840_11841insC	c.(11839-11841)ccafs	p.P3947fs	HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.P4197fs|HECTD4_ENST00000550722.1_Frame_Shift_Ins_p.P4223fs|HECTD4_ENST00000549141.1_5'Flank			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3947	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CTGTGCCATCTGGGGGGGCGAT	0.629																																						ENST00000550722.1																			0											c.(12667-12669)cgafs		HECT domain containing E3 ubiquitin protein ligase 4																																				SO:0001589	frameshift_variant	283450							g.chr12:112600859_112600860insG	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11841dupC	12.37:g.112600866_112600866dupG	ENSP00000404379:p.Pro3947fs		Somatic				HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.R3947fs|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.R4197fs	p.R4223fs	NM_001109662.3	NP_001103132.3	WXS	Illumina GAIIx	Phase_I					75	13063_13064	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Ins	INS	ENST00000430131.2	37	c.12668_12669insC																																																																																					0.629	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		21	359						21	359	---	---	---	---
SLC8B1	80024	broad.mit.edu	37	12	113758305	113758306	+	Splice_Site	INS	-	-	G	rs369159999		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:113758305_113758306insG	ENST00000552014.1	-	8	1042		c.e8-2		SLC8B1_ENST00000553238.1_Intron|SLC8B1_ENST00000202831.3_Splice_Site|SLC8B1_ENST00000546737.1_Intron			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1						cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										CGCCAGCGCCTGGGGGGAGGAG	0.644																																						ENST00000552014.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						c.e8-2						0,4260		0,0,2130						3.3	0.4		dbSNP_126	108	1,8251		0,1,4125	no	splice-3	SLC24A6	NM_024959.2		0,1,6255	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12511				SO:0001630	splice_region_variant	80024				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	g.chr12:113758305_113758306insG	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.527-2->C	12.37:g.113758311_113758311dupG			Somatic				SLC24A6_ENST00000553238.1_Intron|SLC24A6_ENST00000202831.3_Splice_Site|SLC24A6_ENST00000546737.1_Intron				WXS	Illumina GAIIx	Phase_I	Q6J4K2	NCKX6_HUMAN			8	1042	-								A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Splice_Site	INS	ENST00000552014.1	37		CCDS31909.1																																																																																				0.644	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959	Intron	13	971						13	971	---	---	---	---
KSR2	283455	broad.mit.edu	37	12	117977604	117977605	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:117977604_117977605insG	ENST00000339824.5	-	10	2333_2334	c.1606_1607insC	c.(1606-1608)ctcfs	p.L536fs	KSR2_ENST00000302438.5_Frame_Shift_Ins_p.L233fs|KSR2_ENST00000425217.1_Frame_Shift_Ins_p.L507fs|KSR2_ENST00000545002.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	536	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTAGGAGGGAGGGGGGGTGCT	0.634																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1519-1521)cccfs		kinase suppressor of ras 2																																				SO:0001589	frameshift_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117977604_117977605insG	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1607dupC	12.37:g.117977611_117977611dupG	ENSP00000339952:p.Leu536fs		Somatic				KSR2_ENST00000302438.5_Frame_Shift_Ins_p.P233fs|KSR2_ENST00000339824.5_Frame_Shift_Ins_p.P536fs|KSR2_ENST00000545002.1_5'UTR	p.P507fs	NM_173598.4	NP_775869.3	WXS	Illumina GAIIx	Phase_I	Q6VAB6	KSR2_HUMAN			10	1573_1574	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		536					A0PJT2|Q3B828|Q8N775	Frame_Shift_Ins	INS	ENST00000339824.5	37	c.1519_1520insC																																																																																					0.634	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		8	206						8	206	---	---	---	---
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:120800902_120800903insC	ENST00000257552.2	-	6	433_434	c.345_346insG	c.(343-348)gggctgfs	p.L116fs	MSI1_ENST00000546622.1_5'Flank	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	116	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCACCGACAGCCCCCCCACAA	0.564																																						ENST00000257552.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19						c.(343-348)ggtgtcfs		musashi RNA-binding protein 1																																				SO:0001589	frameshift_variant	4440				nervous system development	cytoplasm|nucleus	nucleotide binding	g.chr12:120800902_120800903insC	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	7330	protein-coding gene	gene with protein product		603328	"""Musashi (Drosophila) homolog 1"", ""musashi homolog 1 (Drosophila)"""			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.346dupG	12.37:g.120800909_120800909dupC	ENSP00000257552:p.Leu116fs		Somatic					p.V116fs	NM_002442.3	NP_002433.1	WXS	Illumina GAIIx	Phase_I	O43347	MSI1H_HUMAN			6	433_434	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		116			RRM 2.		Q96PU0|Q96PU1|Q96PU2|Q96PU3	Frame_Shift_Ins	INS	ENST00000257552.2	37	c.345_346insG	CCDS9196.1																																																																																				0.564	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		18	321						18	321	---	---	---	---
SBNO1	55206	broad.mit.edu	37	12	123805033	123805034	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:123805033_123805034insG	ENST00000602398.1	-	19	2739_2740	c.2612_2613insC	c.(2611-2613)cctfs	p.P871fs	SBNO1_ENST00000602750.1_Frame_Shift_Ins_p.P870fs|SBNO1_ENST00000420886.2_Frame_Shift_Ins_p.P871fs|SBNO1_ENST00000267176.4_Frame_Shift_Ins_p.P870fs			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	871					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CCAGGGTATTAGGGGGGAGGTC	0.45																																						ENST00000420886.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(2611-2613)caafs		strawberry notch homolog 1 (Drosophila)																																				SO:0001589	frameshift_variant	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123805033_123805034insG	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.2613dupC	12.37:g.123805039_123805039dupG	ENSP00000473665:p.Pro871fs		Somatic				SBNO1_ENST00000267176.4_Frame_Shift_Ins_p.Q870fs|SBNO1_ENST00000602750.1_Frame_Shift_Ins_p.Q870fs|SBNO1_ENST00000602398.1_Frame_Shift_Ins_p.Q871fs	p.Q871fs	NM_001167856.1	NP_001161328.1	WXS	Illumina GAIIx	Phase_I	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	18	2611_2612	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		871					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Frame_Shift_Ins	INS	ENST00000602398.1	37	c.2612_2613insC	CCDS53844.1																																																																																				0.450	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		7	254						7	254	---	---	---	---
STARD13	90627	broad.mit.edu	37	13	33704105	33704106	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr13:33704105_33704106insG	ENST00000336934.5	-	5	824_825	c.708_709insC	c.(706-711)cccagafs	p.R237fs	STARD13_ENST00000399365.3_Frame_Shift_Ins_p.R119fs|STARD13_ENST00000255486.4_Frame_Shift_Ins_p.R229fs	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	237					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		AGGACATCTCTGGGGGGCTGTG	0.609																																						ENST00000336934.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40						c.(706-711)ccgagafs		StAR-related lipid transfer (START) domain containing 13																																				SO:0001589	frameshift_variant	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33704105_33704106insG	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.709dupC	13.37:g.33704111_33704111dupG	ENSP00000338785:p.Arg237fs		Somatic				STARD13_ENST00000255486.4_Frame_Shift_Ins_p.R229fs|STARD13_ENST00000399365.3_Frame_Shift_Ins_p.R119fs	p.R237fs	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	WXS	Illumina GAIIx	Phase_I	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	5	824_825	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	237					A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Frame_Shift_Ins	INS	ENST00000336934.5	37	c.708_709insC	CCDS9348.1																																																																																				0.609	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		7	203						7	203	---	---	---	---
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080|rs370605552	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggcgafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.47																																						ENST00000379485.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1324-1329)gggagafs		kelch repeat and BTB (POZ) domain containing 6																																				SO:0001589	frameshift_variant	89890						protein binding	g.chr13:41705321_41705322insC	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1327dupG	13.37:g.41705328_41705328dupC	ENSP00000368799:p.Arg443fs		Somatic				KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	p.R443fs	NM_152903.4	NP_690867.3	WXS	Illumina GAIIx	Phase_I	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1560_1561	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	443					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Frame_Shift_Ins	INS	ENST00000379485.1	37	c.1326_1327insG	CCDS9376.1																																																																																				0.470	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		20	254						20	254	---	---	---	---
LCP1	3936	broad.mit.edu	37	13	46721051	46721052	+	Frame_Shift_Ins	INS	-	-	C	rs374226559		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr13:46721051_46721052insC	ENST00000398576.2	-	13	1553_1554	c.1165_1166insG	c.(1165-1167)gctfs	p.A389fs	LCP1_ENST00000323076.2_Frame_Shift_Ins_p.A389fs			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	389	Actin-binding 2.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)	p.A389fs*16(1)		breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		ACCTTCAAGAGCCCCCCAGTCA	0.441			T	BCL6	NHL																																	ENST00000398576.2				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL		1	Deletion - Frameshift(1)	p.A389fs*16(1)	ovary(1)	breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.(1165-1167)tctfs		lymphocyte cytosolic protein 1 (L-plastin)																																				SO:0001589	frameshift_variant	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46721051_46721052insC	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1166dupG	13.37:g.46721057_46721057dupC	ENSP00000381581:p.Ala389fs		Somatic				LCP1_ENST00000323076.2_Frame_Shift_Ins_p.S389fs	p.S389fs			WXS	Illumina GAIIx	Phase_I	P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	13	1553_1554	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	389			Actin-binding 2.		B2R613|B4DUA0|Q5TBN4	Frame_Shift_Ins	INS	ENST00000398576.2	37	c.1165_1166insG	CCDS9403.1																																																																																				0.441	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		9	401						9	401	---	---	---	---
STK24	8428	broad.mit.edu	37	13	99114124	99114125	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr13:99114124_99114125insC	ENST00000376547.3	-	8	1137_1138	c.992_993insG	c.(991-993)ggcfs	p.G331fs	STK24_ENST00000397517.2_Frame_Shift_Ins_p.G319fs|STK24_ENST00000539966.1_Frame_Shift_Ins_p.G300fs	NM_003576.3	NP_003567.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	331					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of cell migration (GO:0030336)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of axon regeneration (GO:0048679)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CAGAATCACTGCCCCCCGAGGC	0.535																																						ENST00000397517.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17						c.(955-957)gagfs		serine/threonine kinase 24																																				SO:0001589	frameshift_variant	8428				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr13:99114124_99114125insC	AF024636	CCDS9488.1, CCDS32001.1, CCDS66573.1	13q31.2-q32.3	2010-06-25	2010-06-25		ENSG00000102572	ENSG00000102572			11403	protein-coding gene	gene with protein product	"""STE20-like kinase 3"", ""sterile 20-like kinase 3"""	604984	"""serine/threonine kinase 24 (Ste20, yeast homolog)"""			9353338, 10644707	Standard	NM_003576		Approved	MST-3, MST3, MST3B, STK3, STE20	uc001vnn.1	Q9Y6E0	OTTHUMG00000017250	ENST00000376547.3:c.993dupG	13.37:g.99114130_99114130dupC	ENSP00000365730:p.Gly331fs		Somatic				STK24_ENST00000376547.3_Frame_Shift_Ins_p.E331fs|STK24_ENST00000539966.1_Frame_Shift_Ins_p.E300fs	p.E319fs	NM_001032296.2	NP_001027467.2	WXS	Illumina GAIIx	Phase_I	Q9Y6E0	STK24_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		8	1032_1033	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		331					O14840|Q5JV92	Frame_Shift_Ins	INS	ENST00000376547.3	37	c.956_957insG	CCDS9488.1																																																																																				0.535	STK24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045549.2	NM_003576		8	278						8	278	---	---	---	---
METTL21C	196541	broad.mit.edu	37	13	103343225	103343226	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr13:103343225_103343226insA	ENST00000267273.6	-	2	224_225	c.219_220insT	c.(217-222)tttgcafs	p.A74fs		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	74					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						TCCTTTCCTGCAAACCGATAAT	0.46																																						ENST00000267273.6																			0				breast(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(217-222)ttcaggfs		methyltransferase like 21C																																				SO:0001589	frameshift_variant	196541						methyltransferase activity	g.chr13:103343225_103343226insA		CCDS32003.1	13q33.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000139780	ENSG00000139780			33717	protein-coding gene	gene with protein product		615259	"""chromosome 13 open reading frame 39"""	C13orf39			Standard	NM_001010977		Approved	LOC196541	uc001vpj.4	Q5VZV1	OTTHUMG00000017304	ENST00000267273.6:c.220dupT	13.37:g.103343228_103343228dupA	ENSP00000267273:p.Ala74fs		Somatic					p.R74fs	NM_001010977.1	NP_001010977.1	WXS	Illumina GAIIx	Phase_I	Q5VZV1	MT21C_HUMAN			2	224_225	-			74						Frame_Shift_Ins	INS	ENST00000267273.6	37	c.219_220insT	CCDS32003.1																																																																																				0.460	METTL21C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045682.2	NM_001010977		75	134						75	134	---	---	---	---
ARHGEF40	55701	broad.mit.edu	37	14	21546603	21546604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr14:21546603_21546604insG	ENST00000298694.4	+	10	2329_2330	c.2202_2203insG	c.(2203-2205)gggfs	p.G735fs	ARHGEF40_ENST00000298693.3_Frame_Shift_Ins_p.G735fs			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	735						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TGCAGAGGGATGGGGGGGCCAT	0.629																																						ENST00000298694.4																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(2200-2205)gaggggfs		Rho guanine nucleotide exchange factor (GEF) 40																																				SO:0001589	frameshift_variant	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21546603_21546604insG		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.2209dupG	14.37:g.21546610_21546610dupG	ENSP00000298694:p.Gly735fs		Somatic				ARHGEF40_ENST00000298693.3_Frame_Shift_Ins_p.EG734fs	p.EG734fs			WXS	Illumina GAIIx	Phase_I	Q8TER5	ARH40_HUMAN			10	2329_2330	+			734					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Frame_Shift_Ins	INS	ENST00000298694.4	37	c.2202_2203insG	CCDS32041.1																																																																																				0.629	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			14	191						14	191	---	---	---	---
SALL2	6297	broad.mit.edu	37	14	21992275	21992276	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr14:21992275_21992276insG	ENST00000327430.3	-	2	1880_1881	c.1586_1587insC	c.(1585-1587)ccafs	p.P529fs	SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Frame_Shift_Ins_p.P392fs|SALL2_ENST00000317492.5_Intron|AE000658.22_ENST00000535893.1_RNA	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	529					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCTCACTCCCTGGGGGGGTGTT	0.53																																						ENST00000327430.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(1585-1587)cggfs		spalt-like transcription factor 2																																				SO:0001589	frameshift_variant	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21992275_21992276insG	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.1587dupC	14.37:g.21992282_21992282dupG	ENSP00000333537:p.Pro529fs		Somatic				SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Frame_Shift_Ins_p.R392fs|SALL2_ENST00000538754.1_Intron	p.R529fs	NM_005407.1	NP_005398.1	WXS	Illumina GAIIx	Phase_I	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	1880_1881	-	all_cancers(95;0.000662)		529					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Frame_Shift_Ins	INS	ENST00000327430.3	37	c.1586_1587insC	CCDS32045.1																																																																																				0.530	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		8	203						8	203	---	---	---	---
TRAJ61	28694	broad.mit.edu	37	14	22944386	22944386	+	RNA	DEL	T	T	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr14:22944386delT	ENST00000390479.2	+	0	60				AE000661.37_ENST00000514473.2_RNA|AE000661.37_ENST00000556777.1_RNA|TRAJ59_ENST00000390480.2_RNA|TRAJ58_ENST00000390481.1_RNA					T cell receptor alpha joining 61 (non-functional)																		TTTGGCAGAATTTTTTTTTCT	0.343																																						ENST00000514473.2																			0																				23.0	26.0	25.0					14																	22944386		1789	4043	5832			101929735							g.chr14:22944386delT	M94081		14q11.2	2012-02-07	2008-09-12		ENSG00000211831	ENSG00000211831		"""T cell receptors / TRA locus"""	12094	other	T cell receptor gene			"""T cell receptor alpha joining 61"""			8188290	Standard	NG_001332		Approved				OTTHUMG00000170906		14.37:g.22944386delT			Somatic				AE000661.37_ENST00000556777.1_RNA				WXS	Illumina GAIIx	Phase_I					0	225	-									RNA	DEL	ENST00000390479.2	37																																																																																						0.343	TRAJ61-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	TR_J_gene	TR_J_gene	OTTHUMT00000410937.1	NG_001332		3	4						3	4	---	---	---	---
RBM23	55147	broad.mit.edu	37	14	23371029	23371030	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr14:23371029_23371030insG	ENST00000359890.3	-	13	1504_1505	c.1309_1310insC	c.(1309-1311)cagfs	p.Q437fs	RBM23_ENST00000346528.5_Frame_Shift_Ins_p.Q403fs|RBM23_ENST00000555209.1_Frame_Shift_Ins_p.Q187fs|RBM23_ENST00000399922.2_Frame_Shift_Ins_p.Q421fs|RBM23_ENST00000542016.2_Frame_Shift_Ins_p.Q267fs	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	437					mRNA processing (GO:0006397)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		TCACATGGTCTGGGGGGTAAAG	0.505																																						ENST00000359890.3																			0				endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10						c.(1309-1311)gacfs		RNA binding motif protein 23																																				SO:0001589	frameshift_variant	55147				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr14:23371029_23371030insG	AF275678	CCDS41919.1, CCDS41920.1, CCDS41921.1	14q11.1	2014-07-03	2004-04-23	2004-04-23		ENSG00000100461		"""RNA binding motif (RRM) containing"""	20155	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen recep- tors beta"""		"""RNA-binding region (RNP1, RRM) containing 4"""	RNPC4		15694343	Standard	NM_018107		Approved	FLJ10482, CAPERbeta	uc001whg.3	Q86U06		ENST00000359890.3:c.1310dupC	14.37:g.23371035_23371035dupG	ENSP00000352956:p.Gln437fs		Somatic				RBM23_ENST00000399922.2_Frame_Shift_Ins_p.D421fs|RBM23_ENST00000542016.2_Frame_Shift_Ins_p.D267fs|RBM23_ENST00000346528.5_Frame_Shift_Ins_p.D403fs|RBM23_ENST00000555209.1_Frame_Shift_Ins_p.D187fs	p.D437fs	NM_001077351.1	NP_001070819.1	WXS	Illumina GAIIx	Phase_I	Q86U06	RBM23_HUMAN		GBM - Glioblastoma multiforme(265;0.0128)	13	1504_1505	-	all_cancers(95;4.69e-05)		437					D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7	Frame_Shift_Ins	INS	ENST00000359890.3	37	c.1309_1310insC	CCDS41921.1																																																																																				0.505	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413545.3			7	783						7	783	---	---	---	---
FNTB	2342	broad.mit.edu	37	14	65520040	65520041	+	Frame_Shift_Ins	INS	-	-	G	rs374785351|rs149471226	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr14:65520040_65520041insG	ENST00000246166.2	+	10	1274_1275	c.1040_1041insG	c.(1039-1044)gcggggfs	p.AG347fs	FNTB_ENST00000542227.1_Frame_Shift_Ins_p.AG301fs|FNTB_ENST00000447296.2_Frame_Shift_Ins_p.AG381fs|MAX_ENST00000341653.2_Intron|CHURC1-FNTB_ENST00000549987.1_Frame_Shift_Ins_p.AG382fs	NM_002028.3	NP_002019.1	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	347					negative regulation of cell proliferation (GO:0008285)|phototransduction, visible light (GO:0007603)|positive regulation of cell cycle (GO:0045787)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|protein farnesylation (GO:0018343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to cytokine (GO:0034097)|response to inorganic substance (GO:0010035)|response to organic cyclic compound (GO:0014070)|rhodopsin mediated signaling pathway (GO:0016056)|wound healing (GO:0042060)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	farnesyltranstransferase activity (GO:0004311)|protein farnesyltransferase activity (GO:0004660)|zinc ion binding (GO:0008270)	p.A347A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CAGTGCCCTGCGGGGGGGCTTC	0.599																																						ENST00000246166.2																			1	Substitution - coding silent(1)	p.A347A(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(1039-1041)gggfs		farnesyltransferase, CAAX box, beta																																				SO:0001589	frameshift_variant	2342							g.chr14:65520040_65520041insG		CCDS9769.1	14q23.3	2011-09-28			ENSG00000257365	ENSG00000257365			3785	protein-coding gene	gene with protein product		134636				8276393	Standard	NM_002028		Approved	FPTB		P49356	OTTHUMG00000142811	ENST00000246166.2:c.1047dupG	14.37:g.65520047_65520047dupG	ENSP00000246166:p.Ala347fs		Somatic				CHURC1-FNTB_ENST00000448390.2_Frame_Shift_Ins_p.G103fs|MAX_ENST00000341653.2_Intron|CHURC1-FNTB_ENST00000542227.1_Frame_Shift_Ins_p.G301fs|CHURC1-FNTB_ENST00000447296.2_Frame_Shift_Ins_p.G381fs	p.G347fs	NM_002028.3	NP_002019.1	WXS	Illumina GAIIx	Phase_I				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)	10	1274_1275	+								B2RDX6|B4E1A0	Frame_Shift_Ins	INS	ENST00000246166.2	37	c.1040_1041insG	CCDS9769.1																																																																																				0.599	FNTB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000286392.1	NM_002028		9	97						9	97	---	---	---	---
GALNT16	57452	broad.mit.edu	37	14	69800299	69800300	+	Frame_Shift_Ins	INS	-	-	G	rs144140025		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr14:69800299_69800300insG	ENST00000337827.4	+	9	1276_1277	c.949_950insG	c.(949-951)tggfs	p.W317fs	GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.W317fs|GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.W317fs	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	317	Catalytic subdomain B.				protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GATGGACATCTGGGGGGGAGAG	0.47																																						ENST00000337827.4																			0											c.(949-951)gggfs		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																																				SO:0001589	frameshift_variant	57452							g.chr14:69800299_69800300insG	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.956dupG	14.37:g.69800306_69800306dupG	ENSP00000336729:p.Trp317fs		Somatic				GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.G317fs|GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.G317fs	p.G317fs	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	WXS	Illumina GAIIx	Phase_I					9	1276_1277	+								Q4KMG3|Q58A55|Q9ULT9	Frame_Shift_Ins	INS	ENST00000337827.4	37	c.949_950insG	CCDS32107.1																																																																																				0.470	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		13	199						13	199	---	---	---	---
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G	rs570771230|rs571384652	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr15:22369023_22369024insG	ENST00000332663.2	+	1	546_547	c.448_449insG	c.(448-450)aggfs	p.R150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R150M(2)|p.R150W(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCTCCTGGAGGGGGGGCTTC	0.5													tgggggg|GGGGGGG|GGGGGGGG|complex_insertion	8	0.00159744	0.0045	0.0	5008	,	,		35803	0.0		0.0	False		,,,				2504	0.002					ENST00000332663.2																			3	Substitution - Missense(3)	p.R150M(2)|p.R150W(1)	lung(3)	NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63						c.(448-450)gggfs		olfactory receptor, family 4, subfamily M, member 2																																				SO:0001589	frameshift_variant	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369023_22369024insG	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.455dupG	15.37:g.22369030_22369030dupG	ENSP00000329467:p.Arg150fs		Somatic				RP11-69H14.6_ENST00000558896.1_RNA	p.G150fs	NM_001004719.2	NP_001004719.2	WXS	Illumina GAIIx	Phase_I	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	546_547	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	150					B9EH16|Q6IEY2	Frame_Shift_Ins	INS	ENST00000332663.2	37	c.448_449insG	CCDS32172.1																																																																																				0.500	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			25	1067						25	1067	---	---	---	---
TRPM1	4308	broad.mit.edu	37	15	31362390	31362391	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr15:31362390_31362391insG	ENST00000256552.6	-	4	269_270	c.122_123insC	c.(121-123)cctfs	p.P41fs	TRPM1_ENST00000542188.1_Frame_Shift_Ins_p.P58fs|TRPM1_ENST00000559179.1_Frame_Shift_Ins_p.P19fs|TRPM1_ENST00000397795.2_Frame_Shift_Ins_p.P19fs	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CACTTGGCAGAGGGGGGATATG	0.505																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(172-174)cctfs		transient receptor potential cation channel, subfamily M, member 1																																				SO:0001589	frameshift_variant	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31362390_31362391insG	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.123dupC	15.37:g.31362396_31362396dupG	ENSP00000256552:p.Pro41fs		Somatic				TRPM1_ENST00000256552.6_Frame_Shift_Ins_p.P41fs|TRPM1_ENST00000397795.2_Frame_Shift_Ins_p.P19fs|TRPM1_ENST00000559179.1_Frame_Shift_Ins_p.P19fs	p.P58fs	NM_001252020.1	NP_001238949.1	WXS	Illumina GAIIx	Phase_I	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	3	486_487	-		all_lung(180;1.92e-11)	19						Frame_Shift_Ins	INS	ENST00000256552.6	37	c.173_174insC	CCDS58346.1																																																																																				0.505	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		7	1229						7	1229	---	---	---	---
C15orf52	388115	broad.mit.edu	37	15	40630771	40630772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr15:40630771_40630772insG	ENST00000559313.1	-	5	624_625	c.609_610insC	c.(607-612)cccacgfs	p.T204fs	C15orf52_ENST00000397536.2_5'Flank|C15orf52_ENST00000557973.1_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	204							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCCACCTGCGTGGGGGGGCTTC	0.584											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000559313.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19						c.(607-612)cccgcafs		chromosome 15 open reading frame 52																																				SO:0001589	frameshift_variant	388115							g.chr15:40630771_40630772insG	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.610dupC	15.37:g.40630778_40630778dupG	ENSP00000453969:p.Thr204fs		Somatic	OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	894		p.A204fs	NM_207380.2	NP_997263.2	WXS	Illumina GAIIx	Phase_I	Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	5	624_625	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	204					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Frame_Shift_Ins	INS	ENST00000559313.1	37	c.609_610insC	CCDS10055.2																																																																																				0.584	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2	NM_207380		8	268						8	268	---	---	---	---
IGDCC4	57722	broad.mit.edu	37	15	65681239	65681240	+	Frame_Shift_Ins	INS	-	-	G	rs142796011		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr15:65681239_65681240insG	ENST00000352385.2	-	15	2822_2823	c.2613_2614insC	c.(2611-2616)cccacafs	p.T872fs		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	872	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TTGGGCTCTGTGGGGGGGCACC	0.663																																						ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(2611-2616)cccagafs		immunoglobulin superfamily, DCC subclass, member 4																																				SO:0001589	frameshift_variant	57722					integral to membrane|plasma membrane		g.chr15:65681239_65681240insG		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.2614dupC	15.37:g.65681246_65681246dupG	ENSP00000319623:p.Thr872fs		Somatic					p.R872fs	NM_020962.1	NP_066013.1	WXS	Illumina GAIIx	Phase_I	Q8TDY8	IGDC4_HUMAN			15	2822_2823	-			872			Fibronectin type-III 5.		Q9HCE4	Frame_Shift_Ins	INS	ENST00000352385.2	37	c.2613_2614insC	CCDS10206.1																																																																																				0.663	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		9	134						9	134	---	---	---	---
ANKRD34C-AS1	729911	broad.mit.edu	37	15	79529452	79529453	+	lincRNA	INS	-	-	G	rs528488597	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr15:79529452_79529453insG	ENST00000560533.1	-	0	349																											ATAATGAGGATGGGGGGATGAC	0.49																																						ENST00000560533.1																			0																																																			729911							g.chr15:79529452_79529453insG																													15.37:g.79529458_79529458dupG			Somatic								WXS	Illumina GAIIx	Phase_I					0	349	-									RNA	INS	ENST00000560533.1	37																																																																																						0.490	RP11-17L5.4-007	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000417804.1			7	426						7	426	---	---	---	---
IDH2	3418	broad.mit.edu	37	15	90631917	90631918	+	Frame_Shift_Ins	INS	-	-	C	rs200758694	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr15:90631917_90631918insC	ENST00000330062.3	-	4	548_549	c.435_436insG	c.(433-438)gggactfs	p.T146fs	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Frame_Shift_Ins_p.T94fs|IDH2_ENST00000539790.1_Frame_Shift_Ins_p.T16fs	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	146					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CGGAAGACAGTCCCCCCCAGGA	0.564			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """			M			GBM		0				biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(433-438)ggctgtfs		isocitrate dehydrogenase 2 (NADP+), mitochondrial																																				SO:0001589	frameshift_variant	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631917_90631918insC		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.436dupG	15.37:g.90631924_90631924dupC	ENSP00000331897:p.Thr146fs		Somatic				IDH2_ENST00000539790.1_Frame_Shift_Ins_p.C16fs|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Frame_Shift_Ins_p.C94fs	p.C146fs	NM_002168.2	NP_002159.2	WXS	Illumina GAIIx	Phase_I	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	548_549	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		146					B2R6L6|B4DFL2|Q96GT3	Frame_Shift_Ins	INS	ENST00000330062.3	37	c.435_436insG	CCDS10359.1																																																																																				0.564	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			9	135						9	135	---	---	---	---
IGF1R	3480	broad.mit.edu	37	15	99251108	99251109	+	Frame_Shift_Ins	INS	-	-	G	rs121912426		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr15:99251108_99251109insG	ENST00000268035.6	+	2	1023_1024	c.412_413insG	c.(412-414)cggfs	p.R138fs	IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.R138fs	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	138			R -> Q (in IGF1RES; has decreased IGF1R function). {ECO:0000269|PubMed:14657428}.		axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GAACATTACTCGGGGGGCCATC	0.51																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	GRCh37	CM035076	IGF1R	M	rs121912426	c.(412-414)gggfs		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)																																			SO:0001589	frameshift_variant	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99251108_99251109insG	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.418dupG	15.37:g.99251114_99251114dupG	ENSP00000268035:p.Arg138fs		Somatic				IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.G138fs	p.G138fs	NM_000875.3	NP_000866.1	WXS	Illumina GAIIx	Phase_I	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		2	1023_1024	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		138		R -> Q (in IGF1RES; has decreased IGF1R function).			B1B5Y2|Q14CV2|Q9UCC0	Frame_Shift_Ins	INS	ENST00000268035.6	37	c.412_413insG	CCDS10378.1																																																																																				0.510	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		14	367						14	367	---	---	---	---
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr16:14980694_14980695insC	ENST00000287667.7	+	28	3470_3471	c.3299_3300insC	c.(3298-3303)ttccccfs	p.FP1100fs		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1100						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTCTTCCATTTCCCCCCACTGC	0.475																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(3298-3300)tccfs		NODAL modulator 1																																				SO:0001589	frameshift_variant	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14980694_14980695insC	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.3305dupC	16.37:g.14980700_14980700dupC	ENSP00000287667:p.Phe1100fs		Somatic					p.S1100fs	NM_014287.3	NP_055102.3	WXS	Illumina GAIIx	Phase_I	Q15155	NOMO1_HUMAN			28	3470_3471	+			1100					P78421|Q8IW21|Q96DG0	Frame_Shift_Ins	INS	ENST00000287667.7	37	c.3299_3300insC	CCDS10556.1																																																																																				0.475	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			13	1374						13	1374	---	---	---	---
RRN3P1	730092	broad.mit.edu	37	16	21814059	21814060	+	RNA	INS	-	-	G	rs571509663		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr16:21814059_21814060insG	ENST00000546471.1	-	0	1607							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CCTATAACAAAGGGGGGGGAAA	0.381																																						ENST00000546471.1																			0																																																			730092							g.chr16:21814059_21814060insG			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21814067_21814067dupG			Somatic								WXS	Illumina GAIIx	Phase_I					0	1607	-								A8K6T4|B3KWX9|O75704	RNA	INS	ENST00000546471.1	37																																																																																						0.381	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		7	72						7	72	---	---	---	---
POLR3E	55718	broad.mit.edu	37	16	22339833	22339834	+	Frame_Shift_Ins	INS	-	-	C	rs200740325	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr16:22339833_22339834insC	ENST00000299853.5	+	19	2036_2037	c.1869_1870insC	c.(1870-1872)cccfs	p.P624fs	POLR3E_ENST00000564209.1_Frame_Shift_Ins_p.P624fs|POLR3E_ENST00000359210.4_Frame_Shift_Ins_p.P624fs|POLR3E_ENST00000418581.2_Frame_Shift_Ins_p.P588fs	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	624					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		TTGGTCAGTTTCCCCCCCAGAC	0.574																																						ENST00000299853.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1867-1872)ttccccfs		polymerase (RNA) III (DNA directed) polypeptide E (80kD)																																				SO:0001589	frameshift_variant	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22339833_22339834insC	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.1876dupC	16.37:g.22339840_22339840dupC	ENSP00000299853:p.Pro624fs		Somatic				POLR3E_ENST00000359210.4_Frame_Shift_Ins_p.FP623fs|POLR3E_ENST00000418581.2_Frame_Shift_Ins_p.FP587fs|POLR3E_ENST00000564209.1_Frame_Shift_Ins_p.FP623fs	p.FP623fs	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	WXS	Illumina GAIIx	Phase_I	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	19	2036_2037	+			623					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Frame_Shift_Ins	INS	ENST00000299853.5	37	c.1869_1870insC	CCDS10605.1																																																																																				0.574	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119		9	181						9	181	---	---	---	---
PRSS36	146547	broad.mit.edu	37	16	31160516	31160517	+	Frame_Shift_Ins	INS	-	-	C	rs200432337|rs34099735		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr16:31160516_31160517insC	ENST00000268281.4	-	4	207_208	c.149_150insG	c.(148-150)ggcfs	p.G50fs	PRSS36_ENST00000418068.2_Frame_Shift_Ins_p.G50fs|PRSS36_ENST00000569305.1_Frame_Shift_Ins_p.G50fs	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	50	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GCGCGTTTGAGCCCCCCACGAT	0.703																																						ENST00000268281.4																			0				kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						c.(148-150)gtcfs		protease, serine, 36																																				SO:0001589	frameshift_variant	146547				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	g.chr16:31160516_31160517insC	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.150dupG	16.37:g.31160522_31160522dupC	ENSP00000268281:p.Gly50fs		Somatic				PRSS36_ENST00000569305.1_Frame_Shift_Ins_p.V50fs|PRSS36_ENST00000418068.2_Frame_Shift_Ins_p.V50fs	p.V50fs	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	WXS	Illumina GAIIx	Phase_I	Q5K4E3	POLS2_HUMAN			4	207_208	-			50			Peptidase S1 1.		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Frame_Shift_Ins	INS	ENST00000268281.4	37	c.149_150insG	CCDS32436.1																																																																																				0.703	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502		2	4						2	4	---	---	---	---
SLC5A2	6524	broad.mit.edu	37	16	31498692	31498693	+	Frame_Shift_Ins	INS	-	-	G	rs370878574		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr16:31498692_31498693insG	ENST00000330498.3	+	6	645_646	c.626_627insG	c.(625-630)ctggggfs	p.LG209fs	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	209					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	TTCGTCATTCTGGGGGGCGCCT	0.678																																						ENST00000330498.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(625-627)cggfs		solute carrier family 5 (sodium/glucose cotransporter), member 2																																				SO:0001589	frameshift_variant	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31498692_31498693insG		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.632dupG	16.37:g.31498698_31498698dupG	ENSP00000327943:p.Leu209fs		Somatic				AC026471.6_ENST00000565137.1_RNA	p.R209fs	NM_003041.3	NP_003032.1	WXS	Illumina GAIIx	Phase_I	P31639	SC5A2_HUMAN			6	645_646	+			209					A2RRD2	Frame_Shift_Ins	INS	ENST00000330498.3	37	c.626_627insG	CCDS10714.1																																																																																				0.678	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			7	409						7	409	---	---	---	---
MT4	84560	broad.mit.edu	37	16	56602768	56602769	+	Frame_Shift_Ins	INS	-	-	C	rs543306573	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr16:56602768_56602769insC	ENST00000219162.3	+	3	193_194	c.113_114insC	c.(112-117)tgccccfs	p.CP38fs		NM_032935.2	NP_116324	P47944	MT4_HUMAN	metallothionein 4	38					cellular metal ion homeostasis (GO:0006875)		metal ion binding (GO:0046872)			ovary(1)|upper_aerodigestive_tract(1)	2						TGTCCCTGCTGCCCCCCGGGCT	0.599													CCCcCC|CCCCCC|CCCCCCC|insertion	3	0.000599042	0.0023	0.0	5008	,	,		18016	0.0		0.0	False		,,,				2504	0.0					ENST00000219162.3																			0				ovary(1)|upper_aerodigestive_tract(1)	2						c.(112-114)tccfs		metallothionein 4																																				SO:0001589	frameshift_variant	84560					cytoplasm	copper ion binding|zinc ion binding	g.chr16:56602768_56602769insC	BC113442	CCDS42165.1	16q13	2014-09-04	2007-01-26		ENSG00000102891	ENSG00000102891		"""Metallothioneins"""	18705	protein-coding gene	gene with protein product		606206	"""metallothionein IV"""			8003488	Standard	NM_032935		Approved	MTIV	uc002eje.1	P47944	OTTHUMG00000176863	ENST00000219162.3:c.119dupC	16.37:g.56602774_56602774dupC	ENSP00000219162:p.Cys38fs		Somatic					p.S38fs	NM_032935.2	NP_116324.1	WXS	Illumina GAIIx	Phase_I	P47944	MT4_HUMAN			3	193_194	+			38					Q14DA1	Frame_Shift_Ins	INS	ENST00000219162.3	37	c.113_114insC	CCDS42165.1																																																																																				0.599	MT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434118.1	NM_032935		21	1147						21	1147	---	---	---	---
HERPUD1	9709	broad.mit.edu	37	16	56977180	56977181	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr16:56977180_56977181insC	ENST00000439977.2	+	8	1351_1352	c.1154_1155insC	c.(1153-1158)ggccccfs	p.GP385fs	RP11-325K4.2_ENST00000570210.1_RNA|HERPUD1_ENST00000344114.4_Frame_Shift_Ins_p.GP226fs|HERPUD1_ENST00000300302.5_Frame_Shift_Ins_p.GP384fs|HERPUD1_ENST00000379792.2_Frame_Shift_Ins_p.GP360fs|RP11-325K4.3_ENST00000565861.1_RNA|HERPUD1_ENST00000570273.1_3'UTR	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	385					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						CTTCCAGAAGGCCCCCCAGCCA	0.53			T	ERG	prostate																																	ENST00000439977.2				Dom	yes		16	16q12.2-q13	9709	T	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"""			E	ERG		prostate		0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						c.(1153-1155)gccfs		homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1																																				SO:0001589	frameshift_variant	9709					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr16:56977180_56977181insC	AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.1160dupC	16.37:g.56977186_56977186dupC	ENSP00000409555:p.Gly385fs		Somatic				HERPUD1_ENST00000379792.2_Frame_Shift_Ins_p.A360fs|HERPUD1_ENST00000300302.5_Frame_Shift_Ins_p.A384fs|HERPUD1_ENST00000344114.4_Frame_Shift_Ins_p.A226fs|HERPUD1_ENST00000570273.1_3'UTR	p.A385fs	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	WXS	Illumina GAIIx	Phase_I	Q15011	HERP1_HUMAN			8	1351_1352	+			385					E9PGD1|O60644|Q6IAN8|Q96D92	Frame_Shift_Ins	INS	ENST00000439977.2	37	c.1154_1155insC	CCDS10771.1																																																																																				0.530	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257056.5			8	760						8	760	---	---	---	---
PRMT7	54496	broad.mit.edu	37	16	68386205	68386205	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr16:68386205delA	ENST00000339507.5	+	15	2298	c.1468delA	c.(1468-1470)aacfs	p.N490fs	PRMT7_ENST00000348497.4_Frame_Shift_Del_p.N342fs|PRMT7_ENST00000449359.3_Frame_Shift_Del_p.N440fs|PRMT7_ENST00000441236.1_Frame_Shift_Del_p.N440fs			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	490	SAM-dependent MTase PRMT-type 2. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		GCCGTGGCACAACCTCTACTT	0.647																																						ENST00000339507.5																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20						c.(1468-1470)acfs		protein arginine methyltransferase 7							100.0	82.0	88.0					16																	68386205		2198	4300	6498	SO:0001589	frameshift_variant	54496				cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr16:68386205delA	AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"""Protein arginine methyltransferases"""	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.1468delA	16.37:g.68386205delA	ENSP00000343103:p.Asn490fs		Somatic				PRMT7_ENST00000348497.4_Frame_Shift_Del_p.N342fs|PRMT7_ENST00000449359.3_Frame_Shift_Del_p.N440fs|PRMT7_ENST00000441236.1_Frame_Shift_Del_p.N440fs	p.N490fs			WXS	Illumina GAIIx	Phase_I	Q9NVM4	ANM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)	15	2298	+		Ovarian(137;0.192)	490					B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Frame_Shift_Del	DEL	ENST00000339507.5	37	c.1468delA	CCDS10866.1																																																																																				0.647	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3	NM_019023		125	214						125	214	---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	70934982	70934983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr16:70934982_70934983insG	ENST00000393567.2	-	53	9122_9123	c.8972_8973insC	c.(8971-8973)cctfs	p.P2991fs		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2991					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACTCAGCCTCAGGGGGGATGGT	0.574																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(8971-8973)cgafs		HYDIN, axonemal central pair apparatus protein																																				SO:0001589	frameshift_variant	54768							g.chr16:70934982_70934983insG	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.8973dupC	16.37:g.70934988_70934988dupG	ENSP00000377197:p.Pro2991fs		Somatic					p.R2991fs	NM_001270974.1	NP_001257903.1	WXS	Illumina GAIIx	Phase_I	Q4G0P3	HYDIN_HUMAN			53	9122_9123	-		Ovarian(137;0.0654)	2991					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Frame_Shift_Ins	INS	ENST00000393567.2	37	c.8972_8973insC	CCDS59269.1																																																																																				0.574	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			12	1486						12	1486	---	---	---	---
GLG1	2734	broad.mit.edu	37	16	74525008	74525009	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr16:74525008_74525009insC	ENST00000422840.2	-	8	1338_1339	c.1339_1340insG	c.(1339-1341)gagfs	p.E447fs	GLG1_ENST00000447066.2_Frame_Shift_Ins_p.E436fs|GLG1_ENST00000205061.5_Frame_Shift_Ins_p.E447fs	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	447					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GTGTTCAATCTCCCCCCGACAG	0.515																																						ENST00000422840.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						c.(1339-1341)gatfs		golgi glycoprotein 1																																				SO:0001589	frameshift_variant	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74525008_74525009insC		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1340dupG	16.37:g.74525014_74525014dupC	ENSP00000405984:p.Glu447fs		Somatic				GLG1_ENST00000447066.2_Frame_Shift_Ins_p.D436fs|GLG1_ENST00000205061.5_Frame_Shift_Ins_p.D447fs	p.D447fs	NM_001145667.1	NP_001139139.1	WXS	Illumina GAIIx	Phase_I	Q92896	GSLG1_HUMAN			8	1338_1339	-			447					B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Frame_Shift_Ins	INS	ENST00000422840.2	37	c.1339_1340insG	CCDS45527.1																																																																																				0.515	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		8	329						8	329	---	---	---	---
RPA1	6117	broad.mit.edu	37	17	1782982	1782983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:1782982_1782983insG	ENST00000254719.5	+	11	1191_1192	c.1081_1082insG	c.(1081-1083)tggfs	p.W361fs		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	361					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TGCTACACTGTGGGGGGAAGAT	0.53								Nucleotide excision repair (NER)																														ENST00000254719.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						c.(1081-1083)gggfs	Nucleotide excision repair (NER)	replication protein A1, 70kDa																																				SO:0001589	frameshift_variant	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1782982_1782983insG	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.1087dupG	17.37:g.1782988_1782988dupG	ENSP00000254719:p.Trp361fs		Somatic					p.G361fs	NM_002945.3	NP_002936.1	WXS	Illumina GAIIx	Phase_I	P27694	RFA1_HUMAN			11	1191_1192	+			361					A8K0Y9|Q59ES9	Frame_Shift_Ins	INS	ENST00000254719.5	37	c.1081_1082insG	CCDS11014.1																																																																																				0.530	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		12	1025						12	1025	---	---	---	---
PAFAH1B1	5048	broad.mit.edu	37	17	2583499	2583500	+	Frame_Shift_Ins	INS	-	-	G	rs113994201|rs113994200		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:2583499_2583500insG	ENST00000397195.5	+	10	1495_1496	c.1044_1045insG	c.(1045-1047)gggfs	p.G349fs	PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.G144fs|RN7SL608P_ENST00000492377.2_RNA|PAFAH1B1_ENST00000572915.2_Intron	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TGTTCCATTCTGGGGGGAAGTT	0.401																																						ENST00000397195.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						c.(1042-1047)tcggggfs		platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)																																				SO:0001589	frameshift_variant	5048				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity	g.chr17:2583499_2583500insG	L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"""WD repeat domain containing"""	8574	protein-coding gene	gene with protein product	"""lissencephaly-1"""	601545	"""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)"", ""Miller-Dieker syndrome chromosome region"", ""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"""	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.1050dupG	17.37:g.2583505_2583505dupG	ENSP00000380378:p.Gly349fs		Somatic				PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.SG143fs|PAFAH1B1_ENST00000397193.3_3'UTR	p.SG348fs	NM_000430.3	NP_000421.1	WXS	Illumina GAIIx	Phase_I	P43034	LIS1_HUMAN			10	1495_1496	+			348			Interaction with dynein and dynactin.			Frame_Shift_Ins	INS	ENST00000397195.5	37	c.1044_1045insG	CCDS32528.1																																																																																				0.401	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437797.2	NM_000430		8	696						8	696	---	---	---	---
ZMYND15	84225	broad.mit.edu	37	17	4647723	4647724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:4647723_4647724insC	ENST00000433935.1	+	10	1701_1702	c.1644_1645insC	c.(1645-1647)cccfs	p.P549fs	ZMYND15_ENST00000592813.1_Frame_Shift_Ins_p.P510fs|ZMYND15_ENST00000573751.2_Frame_Shift_Ins_p.P549fs|ZMYND15_ENST00000269289.6_Frame_Shift_Ins_p.P510fs	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	549					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GTGATGGCCTGCCCCCCGAAAG	0.594																																						ENST00000433935.1																			0				endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						c.(1642-1647)ctccccfs		zinc finger, MYND-type containing 15																																				SO:0001589	frameshift_variant	84225						zinc ion binding	g.chr17:4647723_4647724insC	AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"""Zinc fingers, MYND-type"""	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.1650dupC	17.37:g.4647729_4647729dupC	ENSP00000391742:p.Pro549fs		Somatic				ZMYND15_ENST00000573751.2_Frame_Shift_Ins_p.LP548fs|ZMYND15_ENST00000592813.1_Frame_Shift_Ins_p.LP509fs|ZMYND15_ENST00000269289.6_Frame_Shift_Ins_p.LP509fs	p.LP548fs	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	WXS	Illumina GAIIx	Phase_I	Q9H091	ZMY15_HUMAN			10	1701_1702	+			509					B4DXY5|I3L296	Frame_Shift_Ins	INS	ENST00000433935.1	37	c.1644_1645insC	CCDS45584.1																																																																																				0.594	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265		7	323						7	323	---	---	---	---
CAMTA2	23125	broad.mit.edu	37	17	4875737	4875738	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:4875737_4875738insG	ENST00000348066.3	-	16	2720_2721	c.2597_2598insC	c.(2596-2598)cctfs	p.P866fs	CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.P871fs|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.P868fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.P866fs|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.P889fs|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000361571.5_Frame_Shift_Ins_p.P865fs	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	866					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GCAGAGGTGCAGGGGGGGGACT	0.614																																						ENST00000361571.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2593-2595)cgcfs		calmodulin binding transcription activator 2																																				SO:0001589	frameshift_variant	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4875737_4875738insG	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.2598dupC	17.37:g.4875745_4875745dupG	ENSP00000321813:p.Pro866fs		Somatic				CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.R871fs|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.R889fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.R866fs|CAMTA2_ENST00000348066.3_Frame_Shift_Ins_p.R866fs|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.R868fs	p.R865fs	NM_001171168.1	NP_001164639.1	WXS	Illumina GAIIx	Phase_I	O94983	CMTA2_HUMAN			15	3005_3006	-			866					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Frame_Shift_Ins	INS	ENST00000348066.3	37	c.2594_2595insC	CCDS11063.1																																																																																				0.614	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		8	82						8	82	---	---	---	---
ALOX12	239	broad.mit.edu	37	17	6903739	6903740	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:6903739_6903740insC	ENST00000251535.6	+	7	945_946	c.892_893insC	c.(892-894)gccfs	p.A298fs	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000574377.1_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	298	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.		A -> T.		aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATACCTGGCTGCCCCCCTCGTT	0.554																																						ENST00000251535.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						c.(892-894)cccfs		arachidonate 12-lipoxygenase																																				SO:0001589	frameshift_variant	239				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr17:6903739_6903740insC	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.898dupC	17.37:g.6903745_6903745dupC	ENSP00000251535:p.Ala298fs		Somatic				AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA	p.P298fs	NM_000697.2	NP_000688.2	WXS	Illumina GAIIx	Phase_I	P18054	LOX12_HUMAN			7	945_946	+			298		A -> T.	Lipoxygenase.		O95569|Q6ISF8|Q9UQM4	Frame_Shift_Ins	INS	ENST00000251535.6	37	c.892_893insC	CCDS11084.1																																																																																				0.554	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			13	1072						13	1072	---	---	---	---
ARHGEF15	22899	broad.mit.edu	37	17	8222137	8222138	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:8222137_8222138insG	ENST00000361926.3	+	12	2052_2053	c.1942_1943insG	c.(1942-1944)aggfs	p.R648fs	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000582060.1_3'UTR|ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.R648fs	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	648					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						AGGGTGCCGGAGGGGGGGCGTG	0.634																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1942-1944)gggfs		Rho guanine nucleotide exchange factor (GEF) 15																																				SO:0001589	frameshift_variant	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8222137_8222138insG	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1949dupG	17.37:g.8222144_8222144dupG	ENSP00000355026:p.Arg648fs		Somatic				ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.G648fs|ARHGEF15_ENST00000582060.1_3'UTR	p.G648fs	NM_173728.3	NP_776089.2	WXS	Illumina GAIIx	Phase_I	O94989	ARHGF_HUMAN			12	2052_2053	+			648					A8K6G1|Q8N449|Q9H8B4	Frame_Shift_Ins	INS	ENST00000361926.3	37	c.1942_1943insG	CCDS11139.1																																																																																				0.634	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		17	344						17	344	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27963294	27963295	+	Frame_Shift_Ins	INS	-	-	G	rs562474149|rs35554312	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:27963294_27963295insG	ENST00000269033.3	-	14	2023_2024	c.1872_1873insC	c.(1870-1875)cccatgfs	p.M625fs	SSH2_ENST00000540801.1_Frame_Shift_Ins_p.M652fs|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	625					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAGGGGACATGGGGGGGTCTT	0.47																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1870-1875)cctgtcfs		slingshot protein phosphatase 2																																				SO:0001589	frameshift_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27963294_27963295insG	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1873dupC	17.37:g.27963301_27963301dupG	ENSP00000269033:p.Met625fs		Somatic				RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.V652fs	p.V625fs	NM_033389.2	NP_203747.2	WXS	Illumina GAIIx	Phase_I	Q76I76	SSH2_HUMAN			14	2023_2024	-			625					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Frame_Shift_Ins	INS	ENST00000269033.3	37	c.1872_1873insC	CCDS11253.1																																																																																				0.470	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		8	293						8	293	---	---	---	---
RAB11FIP4	84440	broad.mit.edu	37	17	29758897	29758898	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:29758897_29758898insG	ENST00000325874.8	+	2	455_456	c.226_227insG	c.(226-228)cggfs	p.R76fs		NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	76	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)	p.?(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GGACTTTTGCCGGGGGGTGTTC	0.579																																						ENST00000325874.8																			1	Unknown(1)	p.?(1)	autonomic_ganglia(1)	endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(226-228)gggfs		RAB11 family interacting protein 4 (class II)																																				SO:0001589	frameshift_variant	84440				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr17:29758897_29758898insG	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"""EF-hand domain containing"""	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.232dupG	17.37:g.29758903_29758903dupG	ENSP00000312837:p.Arg76fs		Somatic					p.G76fs	NM_032932.3	NP_116321.2	WXS	Illumina GAIIx	Phase_I	Q86YS3	RFIP4_HUMAN			2	455_456	+		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)	76			EF-hand.		Q52LI1|Q8N829|Q8NDT7|Q969D8	Frame_Shift_Ins	INS	ENST00000325874.8	37	c.226_227insG	CCDS11267.1																																																																																				0.579	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932		9	208						9	208	---	---	---	---
KCNH4	23415	broad.mit.edu	37	17	40328258	40328259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:40328258_40328259insC	ENST00000264661.3	-	5	974_975	c.642_643insG	c.(640-645)gggtctfs	p.S215fs	KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.S215fs	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	215					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGGCAGCGAGACCCCCCCACGG	0.604																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(640-645)ggctcgfs		potassium voltage-gated channel, subfamily H (eag-related), member 4																																				SO:0001589	frameshift_variant	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40328258_40328259insC	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.643dupG	17.37:g.40328265_40328265dupC	ENSP00000264661:p.Ser215fs		Somatic				KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.S215fs	p.S215fs	NM_012285.2	NP_036417.1	WXS	Illumina GAIIx	Phase_I	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	5	974_975	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	215						Frame_Shift_Ins	INS	ENST00000264661.3	37	c.642_643insG	CCDS11420.1																																																																																				0.604	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		13	555						13	555	---	---	---	---
CD300LG	146894	broad.mit.edu	37	17	41931337	41931338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:41931337_41931338insC	ENST00000317310.4	+	4	685_686	c.644_645insC	c.(643-648)cgccccfs	p.RP215fs	CD300LG_ENST00000586233.1_Frame_Shift_Ins_p.RP130fs|CD300LG_ENST00000293396.8_Frame_Shift_Ins_p.RP130fs|CD300LG_ENST00000377203.4_Frame_Shift_Ins_p.RP181fs|CD300LG_ENST00000539718.1_Frame_Shift_Ins_p.RP215fs	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	215					immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGGAGCTCCCGCCCCCCCATGC	0.629																																						ENST00000317310.4																			0				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19						c.(643-645)cccfs		CD300 molecule-like family member g																																				SO:0001589	frameshift_variant	146894					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity	g.chr17:41931337_41931338insC	BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"""Immunoglobulin superfamily / V-set domain containing"""	30455	protein-coding gene	gene with protein product	"""nepmucin"""	610520	"""CD300 antigen like family member G"""			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.651dupC	17.37:g.41931344_41931344dupC	ENSP00000321005:p.Arg215fs		Somatic				CD300LG_ENST00000586233.1_Frame_Shift_Ins_p.P130fs|CD300LG_ENST00000539718.1_Frame_Shift_Ins_p.P215fs|CD300LG_ENST00000377203.4_Frame_Shift_Ins_p.P181fs|CD300LG_ENST00000293396.8_Frame_Shift_Ins_p.P130fs	p.P215fs	NM_145273.3	NP_660316.2	WXS	Illumina GAIIx	Phase_I	Q6UXG3	CLM9_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	4	685_686	+		Breast(137;0.0199)	215					B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Frame_Shift_Ins	INS	ENST00000317310.4	37	c.644_645insC	CCDS11470.1																																																																																				0.629	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457646.1	NM_145273		8	137						8	137	---	---	---	---
GPATCH8	23131	broad.mit.edu	37	17	42475531	42475532	+	Frame_Shift_Ins	INS	-	-	G	rs34826608		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:42475531_42475532insG	ENST00000591680.1	-	8	3943_3944	c.3913_3914insC	c.(3913-3915)ctgfs	p.L1305fs	GPATCH8_ENST00000434000.1_Frame_Shift_Ins_p.L1227fs	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1305							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CTGGCTTTCCAGGGGGGCCAGT	0.559																																						ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(3679-3681)ggafs		G patch domain containing 8																																				SO:0001589	frameshift_variant	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42475531_42475532insG	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.3914dupC	17.37:g.42475537_42475537dupG	ENSP00000467556:p.Leu1305fs		Somatic				GPATCH8_ENST00000591680.1_Frame_Shift_Ins_p.G1305fs	p.G1227fs			WXS	Illumina GAIIx	Phase_I	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	3961_3962	-		Prostate(33;0.0181)	1305					B9EGP9|O60300|Q8TB99	Frame_Shift_Ins	INS	ENST00000591680.1	37	c.3679_3680insC	CCDS32666.1																																																																																				0.559	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		7	387						7	387	---	---	---	---
KANSL1	284058	broad.mit.edu	37	17	44127972	44127981	+	Frame_Shift_Del	DEL	GTGAATTTCG	GTGAATTTCG	-	rs371047711|rs587780998	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:44127972_44127981delGTGAATTTCG	ENST00000262419.6	-	7	2408_2417	c.1938_1947delCGAAATTCAC	c.(1936-1947)cccgaaattcacfs	p.PEIH646fs	KANSL1_ENST00000393476.3_Frame_Shift_Del_p.PEIH3fs|KANSL1_ENST00000432791.1_Frame_Shift_Del_p.PEIH646fs|KANSL1_ENST00000572904.1_Frame_Shift_Del_p.PEIH646fs|KANSL1_ENST00000574590.1_Frame_Shift_Del_p.PEIH646fs|KANSL1_ENST00000575318.1_Frame_Shift_Del_p.PEIH646fs	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	646					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GGGCTTCATAGTGAATTTCGGGAGGCATGG	0.495																																						ENST00000262419.6																			0											c.(1936-1947)ccfs		KAT8 regulatory NSL complex subunit 1																																				SO:0001589	frameshift_variant	284058					MLL1 complex	protein binding	g.chr17:44127972_44127981delGTGAATTTCG	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.1938_1947delCGAAATTCAC	17.37:g.44127972_44127981delGTGAATTTCG	ENSP00000262419:p.Pro646fs		Somatic				KANSL1_ENST00000432791.1_Frame_Shift_Del_p.PEIH646fs|KANSL1_ENST00000393476.3_Frame_Shift_Del_p.PEIH3fs|KANSL1_ENST00000575318.1_Frame_Shift_Del_p.PEIH646fs|KANSL1_ENST00000574590.1_Frame_Shift_Del_p.PEIH646fs|KANSL1_ENST00000572904.1_Frame_Shift_Del_p.PEIH646fs	p.PEIH646fs	NM_001193466.1	NP_001180395.1	WXS	Illumina GAIIx	Phase_I	Q7Z3B3	K1267_HUMAN			7	2408_2417	-			646					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Frame_Shift_Del	DEL	ENST00000262419.6	37	c.1938_1947delCGAAATTCAC	CCDS11503.1																																																																																				0.495	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		75	179						75	179	---	---	---	---
MRPL10	124995	broad.mit.edu	37	17	45905873	45905874	+	Frame_Shift_Ins	INS	-	-	G	rs147331240		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:45905873_45905874insG	ENST00000351111.2	-	2	220_221	c.215_216insC	c.(214-216)ccafs	p.P72fs	MRPL10_ENST00000290208.7_Frame_Shift_Ins_p.P82fs|MRPL10_ENST00000414011.1_Frame_Shift_Ins_p.P82fs	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	72					ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						TTACCTCCTGTGGGGGGCTGGG	0.525																																						ENST00000290208.7																			0				endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						c.(244-246)ccafs		mitochondrial ribosomal protein L10			,	0,4264		0,0,2132					,	-10.1	0.0			44	1,8253		0,1,4126	no	frameshift,frameshift	MRPL10	NM_148887.2,NM_145255.3	,	0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12517				SO:0001589	frameshift_variant	124995				ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr17:45905873_45905874insG	AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"""Mitochondrial ribosomal proteins / large subunits"""	14055	protein-coding gene	gene with protein product	"""39S ribosomal protein L10, mitochondrial"""	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.216dupC	17.37:g.45905879_45905879dupG	ENSP00000324100:p.Pro72fs		Somatic				MRPL10_ENST00000414011.1_Frame_Shift_Ins_p.P82fs|MRPL10_ENST00000351111.2_Frame_Shift_Ins_p.P72fs	p.P82fs			WXS	Illumina GAIIx	Phase_I	Q7Z7H8	RM10_HUMAN			2	697_698	-			72					A6NGJ4|Q96B80|Q96Q55	Frame_Shift_Ins	INS	ENST00000351111.2	37	c.245_246insC	CCDS11516.1																																																																																				0.525	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343764.1	NM_145255		8	364						8	364	---	---	---	---
NFE2L1	4779	broad.mit.edu	37	17	46135997	46135998	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:46135997_46135998insG	ENST00000362042.3	+	6	1929_1930	c.1313_1314insG	c.(1312-1317)ttggggfs	p.LG438fs	NFE2L1_ENST00000361665.3_Frame_Shift_Ins_p.LG427fs|NFE2L1_ENST00000585291.1_Frame_Shift_Ins_p.LG408fs|NFE2L1_ENST00000583378.1_Frame_Shift_Ins_p.LG239fs|RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000536222.1_Frame_Shift_Ins_p.LG282fs|NFE2L1_ENST00000582155.1_Frame_Shift_Ins_p.LG250fs|NFE2L1_ENST00000357480.5_Frame_Shift_Ins_p.LG408fs	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	438					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	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)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCTGACCCTTTGGGGGGTCTGT	0.564																																						ENST00000362042.3																			0				cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1312-1314)tggfs		nuclear factor, erythroid 2-like 1																																				SO:0001589	frameshift_variant	4779				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr17:46135997_46135998insG	AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.1319dupG	17.37:g.46136003_46136003dupG	ENSP00000354855:p.Leu438fs		Somatic				NFE2L1_ENST00000585291.1_Frame_Shift_Ins_p.W408fs|NFE2L1_ENST00000583378.1_Frame_Shift_Ins_p.W239fs|NFE2L1_ENST00000536222.1_Frame_Shift_Ins_p.W282fs|NFE2L1_ENST00000582155.1_Frame_Shift_Ins_p.W250fs|NFE2L1_ENST00000361665.3_Frame_Shift_Ins_p.W427fs|NFE2L1_ENST00000357480.5_Frame_Shift_Ins_p.W408fs	p.W438fs	NM_003204.2	NP_003195.1	WXS	Illumina GAIIx	Phase_I	Q14494	NF2L1_HUMAN			6	1929_1930	+			438					D3DTU3|D3DTU5|Q12877|Q96FN6	Frame_Shift_Ins	INS	ENST00000362042.3	37	c.1313_1314insG	CCDS11524.1																																																																																				0.564	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204		7	329						7	329	---	---	---	---
MARCH10	162333	broad.mit.edu	37	17	60814265	60814266	+	Frame_Shift_Ins	INS	-	-	C	rs372503255		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:60814265_60814266insC	ENST00000311269.5	-	6	1237_1238	c.963_964insG	c.(961-966)gggacafs	p.T322fs	RP11-156L14.1_ENST00000584597.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.T360fs|MARCH10_ENST00000544856.2_Frame_Shift_Ins_p.T321fs|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.T322fs	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	322					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGGGTCGATGTCCCCCCAAATC	0.46																																						ENST00000544856.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						c.(958-963)ggcatcfs		membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	162333						ligase activity|zinc ion binding	g.chr17:60814265_60814266insC	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.964dupG	17.37:g.60814271_60814271dupC	ENSP00000311496:p.Thr322fs		Somatic				MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.I360fs|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.I322fs|MARCH10_ENST00000311269.5_Frame_Shift_Ins_p.I322fs|RP11-156L14.1_ENST00000577270.1_RNA	p.I321fs			WXS	Illumina GAIIx	Phase_I	Q8NA82	MARHA_HUMAN			7	1338_1339	-			322					D3DU09|Q8IYS7|Q8N7Z7	Frame_Shift_Ins	INS	ENST00000311269.5	37	c.960_961insG	CCDS11635.1																																																																																				0.460	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		10	867						10	867	---	---	---	---
TNRC6C	57690	broad.mit.edu	37	17	76046980	76046980	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:76046980delA	ENST00000588061.1	+	5	2564	c.1837delA	c.(1837-1839)aaafs	p.K614fs	TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000335749.4_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		Somatic				TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs	p.K614fs	NM_001142640.1	NP_001136112.1	WXS	Illumina GAIIx	Phase_I	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		7	363						7	363	---	---	---	---
ZNF532	55205	broad.mit.edu	37	18	56585962	56585963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr18:56585962_56585963insC	ENST00000336078.4	+	4	1219_1220	c.443_444insC	c.(442-447)gaccccfs	p.DP148fs	ZNF532_ENST00000591230.1_Frame_Shift_Ins_p.DP148fs|ZNF532_ENST00000589288.1_Frame_Shift_Ins_p.DP148fs|ZNF532_ENST00000591083.1_Frame_Shift_Ins_p.DP148fs|ZNF532_ENST00000591808.1_Frame_Shift_Ins_p.DP148fs	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	148					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(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GAGGTGGATGACCCCCCTGACA	0.554																																						ENST00000336078.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(442-444)gccfs		zinc finger protein 532																																				SO:0001589	frameshift_variant	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56585962_56585963insC	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.449dupC	18.37:g.56585968_56585968dupC	ENSP00000338217:p.Asp148fs		Somatic				ZNF532_ENST00000591808.1_Frame_Shift_Ins_p.A148fs|ZNF532_ENST00000591083.1_Frame_Shift_Ins_p.A148fs|ZNF532_ENST00000591230.1_Frame_Shift_Ins_p.A148fs|ZNF532_ENST00000589288.1_Frame_Shift_Ins_p.A148fs	p.A148fs	NM_018181.4	NP_060651.2	WXS	Illumina GAIIx	Phase_I	Q9HCE3	ZN532_HUMAN			4	1219_1220	+			148					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Frame_Shift_Ins	INS	ENST00000336078.4	37	c.443_444insC	CCDS11969.1																																																																																				0.554	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		9	941						9	941	---	---	---	---
ZNRF4	148066	broad.mit.edu	37	19	5456529	5456530	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:5456529_5456530insC	ENST00000222033.4	+	1	1104_1105	c.1027_1028insC	c.(1027-1029)gccfs	p.A343fs		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	343						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GTTCTCCCAAGCCCCCCGGCGC	0.609																																						ENST00000222033.4																			0				NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1027-1029)cccfs		zinc and ring finger 4																																				SO:0001589	frameshift_variant	148066					integral to membrane	zinc ion binding	g.chr19:5456529_5456530insC	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.1033dupC	19.37:g.5456535_5456535dupC	ENSP00000222033:p.Ala343fs		Somatic					p.P343fs	NM_181710.3	NP_859061.3	WXS	Illumina GAIIx	Phase_I	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	1104_1105	+			343					A8K886|O75866	Frame_Shift_Ins	INS	ENST00000222033.4	37	c.1027_1028insC	CCDS42475.1																																																																																				0.609	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		8	185						8	185	---	---	---	---
C3	718	broad.mit.edu	37	19	6697480	6697481	+	Frame_Shift_Ins	INS	-	-	G	rs137956083	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:6697480_6697481insG	ENST00000245907.6	-	21	2762_2763	c.2670_2671insC	c.(2668-2673)cccaagfs	p.K891fs		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	891					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	AACGAGGACTTGGGGGGGATGG	0.574																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(2668-2673)ccagtcfs		complement component 3																																				SO:0001589	frameshift_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6697480_6697481insG	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2671dupC	19.37:g.6697487_6697487dupG	ENSP00000245907:p.Lys891fs		Somatic					p.V891fs	NM_000064.2	NP_000055.2	WXS	Illumina GAIIx	Phase_I	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	21	2762_2763	-			891					A7E236	Frame_Shift_Ins	INS	ENST00000245907.6	37	c.2670_2671insC	CCDS32883.1																																																																																				0.574	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		10	299						10	299	---	---	---	---
SH2D3A	10045	broad.mit.edu	37	19	6755179	6755180	+	Frame_Shift_Ins	INS	-	-	G	rs139813452		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:6755179_6755180insG	ENST00000245908.6	-	5	912_913	c.643_644insC	c.(643-645)cggfs	p.R215fs	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Frame_Shift_Ins_p.R93fs	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	215					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGAGGGTGTCCGGGGGGGCTTC	0.653																																						ENST00000245908.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						c.(643-645)gacfs		SH2 domain containing 3A																																				SO:0001589	frameshift_variant	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6755179_6755180insG	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.644dupC	19.37:g.6755186_6755186dupG	ENSP00000245908:p.Arg215fs		Somatic				SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Frame_Shift_Ins_p.D93fs	p.D215fs	NM_005490.2	NP_005481.2	WXS	Illumina GAIIx	Phase_I	Q9BRG2	SH23A_HUMAN			5	912_913	-			215					A8K9R6|B4DRS7|Q9Y2X4	Frame_Shift_Ins	INS	ENST00000245908.6	37	c.643_644insC	CCDS12173.1																																																																																				0.653	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		26	587						26	587	---	---	---	---
C3P1	388503	broad.mit.edu	37	19	10160752	10160753	+	RNA	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:10160752_10160753insC	ENST00000495140.1	+	0	1411							Q6ZMU1	C3P1_HUMAN	complement component 3 precursor pseudogene							extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)			endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						TAGTGGTCGTGCCCCCCACCTC	0.599																																						ENST00000495140.1																			0				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13																																														388503							g.chr19:10160752_10160753insC	AK131489		19p13.2	2009-04-08			ENSG00000167798	ENSG00000167798			34414	pseudogene	pseudogene							Standard	NR_027300		Approved	CPLP	uc010dwx.2	Q6ZMU1	OTTHUMG00000158555		19.37:g.10160758_10160758dupC			Somatic								WXS	Illumina GAIIx	Phase_I					0	1411	+									RNA	INS	ENST00000495140.1	37																																																																																						0.599	C3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000351284.1	NR_027300		10	619						10	619	---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10291083	10291084	+	Frame_Shift_Ins	INS	-	-	G	rs369470867		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:10291083_10291084insG	ENST00000340748.4	-	4	622_623	c.387_388insC	c.(385-390)cccaaafs	p.K130fs	DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.K130fs|DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.K130fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	130	Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GAAAGGGGTTTGGGGGGGCTGT	0.495																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(385-390)ccaaccfs		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)																																			SO:0001589	frameshift_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10291083_10291084insG	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.388dupC	19.37:g.10291090_10291090dupG	ENSP00000345739:p.Lys130fs		Somatic				DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.T130fs|DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.T130fs	p.T130fs			WXS	Illumina GAIIx	Phase_I	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		4	622_623	-			130			Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Frame_Shift_Ins	INS	ENST00000340748.4	37	c.387_388insC	CCDS12228.1																																																																																				0.495	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		7	156						7	156	---	---	---	---
ZNF625	90589	broad.mit.edu	37	19	12256750	12256751	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:12256750_12256751insC	ENST00000355738.1	-	4	631_632	c.282_283insG	c.(280-285)gggaaafs	p.K95fs	ZNF625_ENST00000439556.2_Frame_Shift_Ins_p.K161fs|ZNF625_ENST00000455799.1_3'UTR|CTC-359D24.3_ENST00000472362.1_RNA|ZNF625_ENST00000542938.1_Frame_Shift_Ins_p.K95fs|ZNF625-ZNF20_ENST00000430024.1_Intron			Q96I27	ZN625_HUMAN	zinc finger protein 625	95					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)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TCATAAGGTTTCCCCCCAGTGT	0.421																																						ENST00000355738.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						c.(280-285)ggaaccfs		zinc finger protein 625																																				SO:0001589	frameshift_variant	90589				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12256750_12256751insC	BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"""Zinc fingers, C2H2-type"", ""-"""	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.283dupG	19.37:g.12256756_12256756dupC	ENSP00000347977:p.Lys95fs		Somatic				ZNF625_ENST00000439556.2_Frame_Shift_Ins_p.T161fs|ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000542938.1_Frame_Shift_Ins_p.T95fs|ZNF625-ZNF20_ENST00000430024.1_Intron	p.T95fs			WXS	Illumina GAIIx	Phase_I	Q96I27	ZN625_HUMAN			4	631_632	-			95					A4FU45|I3L0E9	Frame_Shift_Ins	INS	ENST00000355738.1	37	c.282_283insG																																																																																					0.421	ZNF625-201	KNOWN	basic	protein_coding	protein_coding		NM_145233		7	382						7	382	---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17039883	17039884	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:17039883_17039884insC	ENST00000443236.1	-	24	3184_3185	c.3153_3154insG	c.(3151-3156)gggcatfs	p.H1052fs		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1005						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.H1052fs*30(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTGTTCTGATGCCCCCCCAGGA	0.584																																						ENST00000443236.1																			1	Insertion - Frameshift(1)	p.H1052fs*30(1)	ovary(1)	breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(3151-3156)ggatcafs		C3 and PZP-like, alpha-2-macroglobulin domain containing 8																																				SO:0001589	frameshift_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17039883_17039884insC	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3154dupG	19.37:g.17039890_17039890dupC	ENSP00000402505:p.His1052fs		Somatic					p.S1052fs	NM_015692.2	NP_056507.2	WXS	Illumina GAIIx	Phase_I	Q8IZJ3	CPMD8_HUMAN			24	3184_3185	-			1005					Q8NC09|Q9ULD7	Frame_Shift_Ins	INS	ENST00000443236.1	37	c.3153_3154insG	CCDS42519.1																																																																																				0.584	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		7	120						7	120	---	---	---	---
SUGP1	57794	broad.mit.edu	37	19	19414817	19414818	+	Intron	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:19414817_19414818insG	ENST00000247001.5	-	5	886				SUGP1_ENST00000585763.1_Intron|SUGP1_ENST00000334782.5_Frame_Shift_Ins_p.S192fs	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1						gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						CACCATGACGAGGGGGGAGTCG	0.569																																						ENST00000334782.5																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						c.(571-576)cccgtcfs		SURP and G patch domain containing 1																																				SO:0001627	intron_variant	57794				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	g.chr19:19414817_19414818insG	AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.539-161->C	19.37:g.19414823_19414823dupG			Somatic				SUGP1_ENST00000247001.5_Intron|SUGP1_ENST00000585763.1_Intron	p.V192fs			WXS	Illumina GAIIx	Phase_I	Q8IWZ8	SUGP1_HUMAN			5	585_586	-			115					O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Frame_Shift_Ins	INS	ENST00000247001.5	37	c.573_574insC	CCDS12399.1																																																																																				0.569	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164		7	332						7	332	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:31769141_31769142insC	ENST00000240587.4	-	2	1884_1885	c.1557_1558insG	c.(1555-1560)gggcttfs	p.L520fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	520					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGATATCAAGCCCCCCCTTGG	0.5																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1555-1560)ggttgafs		teashirt zinc finger homeobox 3																																				SO:0001589	frameshift_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769141_31769142insC	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1558dupG	19.37:g.31769148_31769148dupC	ENSP00000240587:p.Leu520fs		Somatic					p.*520fs	NM_020856.2	NP_065907.2	WXS	Illumina GAIIx	Phase_I	Q63HK5	TSH3_HUMAN			2	1884_1885	-	Esophageal squamous(110;0.226)		520					Q9H0G6|Q9P254	Frame_Shift_Ins	INS	ENST00000240587.4	37	c.1557_1558insG	CCDS12421.2																																																																																				0.500	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		11	473						11	473	---	---	---	---
AXL	558	broad.mit.edu	37	19	41743932	41743933	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:41743932_41743933insC	ENST00000301178.4	+	7	1057_1058	c.867_868insC	c.(868-870)cccfs	p.P290fs	AXL_ENST00000593513.1_Frame_Shift_Ins_p.P22fs|AXL_ENST00000359092.3_Frame_Shift_Ins_p.P290fs	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	290	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AAGCATCCGTGCCCCCCCATCA	0.649																																						ENST00000301178.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						c.(865-870)gtccccfs		AXL receptor tyrosine kinase																																				SO:0001589	frameshift_variant	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41743932_41743933insC	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.874dupC	19.37:g.41743939_41743939dupC	ENSP00000301178:p.Pro290fs		Somatic				AXL_ENST00000593513.1_Frame_Shift_Ins_p.VP21fs|AXL_ENST00000359092.3_Frame_Shift_Ins_p.VP289fs	p.VP289fs	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	WXS	Illumina GAIIx	Phase_I	P30530	UFO_HUMAN			7	1057_1058	+			289			Fibronectin type-III 1.		Q8N5L2|Q9UD27	Frame_Shift_Ins	INS	ENST00000301178.4	37	c.867_868insC	CCDS12575.1																																																																																				0.649	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			34	445						34	445	---	---	---	---
CEACAM5	1048	broad.mit.edu	37	19	42224865	42224866	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:42224865_42224866insC	ENST00000221992.6	+	8	1909_1910	c.1795_1796insC	c.(1795-1797)tccfs	p.S599fs	CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.S599fs|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.S598fs	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	599	Ig-like 7.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCCATCATTTCCCCCCCAGAC	0.545																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1795-1797)cccfs		carcinoembryonic antigen-related cell adhesion molecule 5																																				SO:0001589	frameshift_variant	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42224865_42224866insC	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1802dupC	19.37:g.42224872_42224872dupC	ENSP00000221992:p.Ser599fs		Somatic				CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.P599fs|CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.P598fs	p.P599fs	NM_004363.2	NP_004354.2	WXS	Illumina GAIIx	Phase_I	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	8	1909_1910	+			599			Ig-like 7.		H9KVA7	Frame_Shift_Ins	INS	ENST00000221992.6	37	c.1795_1796insC	CCDS12584.1																																																																																				0.545	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		8	277						8	277	---	---	---	---
POU2F2	5452	broad.mit.edu	37	19	42621520	42621521	+	Splice_Site	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:42621520_42621521insG	ENST00000526816.2	-	5	202		c.e5-2		POU2F2_ENST00000389341.5_Splice_Site|POU2F2_ENST00000524801.2_Splice_Site|POU2F2_ENST00000529952.1_Splice_Site|POU2F2_ENST00000533720.1_Splice_Site|POU2F2_ENST00000560398.1_Frame_Shift_Ins_p.Q84fs|POU2F2_ENST00000342301.4_Splice_Site|POU2F2_ENST00000529067.1_Splice_Site|POU2F2_ENST00000560558.1_Intron			P09086	PO2F2_HUMAN	POU class 2 homeobox 2						cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	AGCCTTGATCTGGGGGGGAGAG	0.634																																						ENST00000560398.1																			0				kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(250-252)gatfs		POU class 2 homeobox 2																																				SO:0001630	splice_region_variant	5452				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:42621520_42621521insG		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.187-2->C	19.37:g.42621527_42621527dupG			Somatic				POU2F2_ENST00000389341.5_Splice_Site|POU2F2_ENST00000526816.2_Splice_Site|POU2F2_ENST00000533720.1_Splice_Site|POU2F2_ENST00000342301.4_Splice_Site|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000529067.1_Splice_Site|POU2F2_ENST00000529952.1_Splice_Site|POU2F2_ENST00000524801.2_Splice_Site	p.D84fs			WXS	Illumina GAIIx	Phase_I	P09086	PO2F2_HUMAN			5	257_258	-		Prostate(69;0.059)	62					Q16648|Q7M4M8|Q9BRS4	Frame_Shift_Ins	INS	ENST00000526816.2	37	c.250_251insC	CCDS56095.1																																																																																				0.634	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3		Intron	25	346						25	346	---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42866542	42866543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:42866542_42866543insC	ENST00000251268.6	+	34	5851_5852	c.5851_5852insC	c.(5851-5853)accfs	p.T1951fs	MEGF8_ENST00000334370.4_Frame_Shift_Ins_p.T1884fs	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1951	PSI 5.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCAGGCGTCCACCCCCCGCTGT	0.614																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(5650-5652)cccfs		multiple EGF-like-domains 8																																				SO:0001589	frameshift_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42866542_42866543insC	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.5857dupC	19.37:g.42866548_42866548dupC	ENSP00000251268:p.Thr1951fs		Somatic				MEGF8_ENST00000251268.6_Frame_Shift_Ins_p.P1951fs	p.P1884fs	NM_001410.2	NP_001401.2	WXS	Illumina GAIIx	Phase_I	Q7Z7M0	MEGF8_HUMAN			33	6285_6286	+		Prostate(69;0.00682)	1951			PSI 4.		A8KAY0|O75097	Frame_Shift_Ins	INS	ENST00000251268.6	37	c.5650_5651insC																																																																																					0.614	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		8	273						8	273	---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:43439519_43439520insC	ENST00000406070.2	-	0	527				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515																																						ENST00000446844.3																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)																																						5676				female pregnancy	extracellular region		g.chr19:43439519_43439520insC			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439525_43439525dupC			Somatic				PSG7_ENST00000406070.2_RNA				WXS	Illumina GAIIx	Phase_I	Q13046	PSG7_HUMAN			0	520	-		Prostate(69;0.00682)						Q15232	RNA	INS	ENST00000406070.2	37																																																																																						0.515	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		12	1045						12	1045	---	---	---	---
MARK4	57787	broad.mit.edu	37	19	45805663	45805664	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:45805663_45805664insC	ENST00000262891.4	+	17	2285_2286	c.1954_1955insC	c.(1954-1956)gccfs	p.A652fs	MARK4_ENST00000300843.4_Frame_Shift_Ins_p.P679fs	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	652					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AACGGAAACCGCCCCCCGGCTG	0.639																																						ENST00000300843.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(2032-2037)ccccccfs		MAP/microtubule affinity-regulating kinase 4																																				SO:0001589	frameshift_variant	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45805663_45805664insC	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1960dupC	19.37:g.45805669_45805669dupC	ENSP00000262891:p.Ala652fs		Somatic				MARK4_ENST00000262891.4_Frame_Shift_Ins_p.P652fs	p.PP678fs	NM_031417.3	NP_113605.2	WXS	Illumina GAIIx	Phase_I	Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	18	2331_2332	+		all_neural(266;0.224)|Ovarian(192;0.231)	0					Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Frame_Shift_Ins	INS	ENST00000262891.4	37	c.2034_2035insC	CCDS56097.1																																																																																				0.639	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		10	430						10	430	---	---	---	---
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:48737669_48737670insC	ENST00000359009.4	-	3	378_379	c.66_67insG	c.(64-69)gggacafs	p.T23fs	CARD8_ENST00000520015.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000391898.3_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.D64fs|ZNF114_ENST00000597695.1_Intron			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	23					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436																																						ENST00000391898.3																			0				endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15						c.(340-342)catfs		caspase recruitment domain family, member 8																																				SO:0001589	frameshift_variant	22900				negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity	g.chr19:48737669_48737670insC	AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.67dupG	19.37:g.48737676_48737676dupC	ENSP00000351901:p.Thr23fs		Somatic				CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs	p.H114fs	NM_001184900.1	NP_001171829.1	WXS	Illumina GAIIx	Phase_I	Q9Y2G2	CARD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)	3	382_383	-		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)	0					B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Frame_Shift_Ins	INS	ENST00000359009.4	37	c.340_341insG																																																																																					0.436	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014959		7	259						7	259	---	---	---	---
FAM83E	54854	broad.mit.edu	37	19	49107037	49107038	+	Frame_Shift_Ins	INS	-	-	G	rs560890077	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:49107037_49107038insG	ENST00000263266.3	-	4	1078_1079	c.889_890insC	c.(889-891)cagfs	p.Q297fs	SPACA4_ENST00000321762.1_5'Flank	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	297										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CGAGGGTTTCTGGGGGGGCGCA	0.723																																						ENST00000263266.3																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10						c.(889-891)gaafs		family with sequence similarity 83, member E																																				SO:0001589	frameshift_variant	54854							g.chr19:49107037_49107038insG	AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.890dupC	19.37:g.49107044_49107044dupG	ENSP00000263266:p.Gln297fs		Somatic					p.E297fs	NM_017708.3	NP_060178.2	WXS	Illumina GAIIx	Phase_I	Q2M2I3	FA83E_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	4	1078_1079	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	297					Q9NXK1	Frame_Shift_Ins	INS	ENST00000263266.3	37	c.889_890insC	CCDS42587.1																																																																																				0.723	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1	NM_017708		7	49						7	49	---	---	---	---
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:50243063_50243064insG	ENST00000246801.3	-	11	1830_1831	c.1748_1749insC	c.(1747-1749)ccafs	p.P583fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.P383fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	583					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCCCCTGTTTTGGGGGGGTTCC	0.545																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(1747-1749)caafs		testis-specific serine kinase substrate																																				SO:0001589	frameshift_variant	60385						protein binding	g.chr19:50243063_50243064insG	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1749dupC	19.37:g.50243070_50243070dupG	ENSP00000246801:p.Pro583fs		Somatic				TSKS_ENST00000358830.3_Frame_Shift_Ins_p.Q383fs	p.Q583fs	NM_021733.1	NP_068379.1	WXS	Illumina GAIIx	Phase_I	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	11	1830_1831	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	583					Q8WXJ0	Frame_Shift_Ins	INS	ENST00000246801.3	37	c.1748_1749insC	CCDS12780.1																																																																																				0.545	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		22	402						22	402	---	---	---	---
SHANK1	50944	broad.mit.edu	37	19	51192459	51192460	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:51192459_51192460insC	ENST00000293441.1	-	15	2059_2060	c.2041_2042insG	c.(2041-2043)gccfs	p.A681fs	SHANK1_ENST00000359082.3_Frame_Shift_Ins_p.A672fs|SHANK1_ENST00000391814.1_Frame_Shift_Ins_p.A681fs|SHANK1_ENST00000391813.1_Frame_Shift_Ins_p.A68fs	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	681	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.A681S(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CTCACCCTTGGCCCCCCGGAGC	0.609																																						ENST00000293441.1																			1	Substitution - Missense(1)	p.A681S(1)	lung(1)	breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(2041-2043)caafs		SH3 and multiple ankyrin repeat domains 1																																				SO:0001589	frameshift_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51192459_51192460insC	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2042dupG	19.37:g.51192465_51192465dupC	ENSP00000293441:p.Ala681fs		Somatic				SHANK1_ENST00000359082.3_Frame_Shift_Ins_p.Q672fs|SHANK1_ENST00000391813.1_Frame_Shift_Ins_p.Q68fs|SHANK1_ENST00000391814.1_Frame_Shift_Ins_p.Q681fs	p.Q681fs	NM_016148.2	NP_057232.2	WXS	Illumina GAIIx	Phase_I	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	15	2059_2060	-		all_neural(266;0.057)	681			PDZ.		A8MXP5|B7WNY6|Q9NYW9	Frame_Shift_Ins	INS	ENST00000293441.1	37	c.2041_2042insG	CCDS12799.1																																																																																				0.609	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		9	300						9	300	---	---	---	---
SHANK1	50944	broad.mit.edu	37	19	51192558	51192559	+	Intron	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:51192558_51192559insG	ENST00000293441.1	-	15	1983				SHANK1_ENST00000359082.3_Intron|SHANK1_ENST00000391814.1_Intron|SHANK1_ENST00000391813.1_Frame_Shift_Ins_p.H35fs	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1						adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCAGGAGAAATGGGGGGGTGGT	0.589																																						ENST00000391813.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(103-105)tttfs		SH3 and multiple ankyrin repeat domains 1																																				SO:0001627	intron_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51192558_51192559insG	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.1965-22->C	19.37:g.51192565_51192565dupG			Somatic				SHANK1_ENST00000293441.1_Intron|SHANK1_ENST00000359082.3_Intron|SHANK1_ENST00000391814.1_Intron	p.F35fs			WXS	Illumina GAIIx	Phase_I	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	1	102_103	-		all_neural(266;0.057)	1218					A8MXP5|B7WNY6|Q9NYW9	Frame_Shift_Ins	INS	ENST00000293441.1	37	c.103_104insC	CCDS12799.1																																																																																				0.589	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		7	84						7	84	---	---	---	---
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:51326962_51326963insC	ENST00000301420.2	-	1	77_78	c.42_43insG	c.(40-45)gggactfs	p.T15fs	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	15						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Aprotinin(DB06692)	GTCTCACCAGTCCCCCCCAGGG	0.653																																						ENST00000301420.2																			0				breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13						c.(40-45)ggctggfs		kallikrein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	3816				proteolysis	nucleus	serine-type endopeptidase activity	g.chr19:51326962_51326963insC	L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3.4.21.35	"""Kallikreins"""	6357	protein-coding gene	gene with protein product		147910	"""kallikrein 1, renal/pancreas/salivary"""			1684954, 16800724, 16800723	Standard	NM_002257		Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.43dupG	19.37:g.51326969_51326969dupC	ENSP00000301420:p.Thr15fs		Somatic				KLK1_ENST00000448701.2_5'UTR	p.W15fs	NM_002257.2	NP_002248.1	WXS	Illumina GAIIx	Phase_I	P06870	KLK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	1	77_78	-		all_neural(266;0.0199)	15					Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Frame_Shift_Ins	INS	ENST00000301420.2	37	c.42_43insG	CCDS12804.1																																																																																				0.653	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464135.2	NM_002257		16	310						16	310	---	---	---	---
NRSN2	80023	broad.mit.edu	37	20	333922	333923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr20:333922_333923insC	ENST00000382291.3	+	4	498_499	c.258_259insC	c.(259-261)cccfs	p.P87fs	NRSN2_ENST00000608736.1_Intron|NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.P87fs	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	87						integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				GCTATGCAGTGCCCCCCAAGCT	0.644																																						ENST00000382291.3																			0				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8						c.(256-261)gtccccfs		neurensin 2																																				SO:0001589	frameshift_variant	80023					integral to membrane|plasma membrane|transport vesicle		g.chr20:333922_333923insC	AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"""chromosome 20 open reading frame 98"""	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.264dupC	20.37:g.333928_333928dupC	ENSP00000371728:p.Pro87fs		Somatic				NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.VP86fs	p.VP86fs	NM_024958.2	NP_079234.1	WXS	Illumina GAIIx	Phase_I	Q9GZP1	NRSN2_HUMAN			4	498_499	+		all_cancers(10;0.0834)	86					A8K3B2|Q6FII5|Q9NUD3	Frame_Shift_Ins	INS	ENST00000382291.3	37	c.258_259insC	CCDS12996.1																																																																																				0.644	NRSN2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077446.1	NM_024958		13	480						13	480	---	---	---	---
PCED1A	64773	broad.mit.edu	37	20	2816203	2816204	+	Frame_Shift_Ins	INS	-	-	C	rs371156741		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr20:2816203_2816204insC	ENST00000360652.2	-	8	1771_1772	c.1269_1270insG	c.(1267-1272)gggcccfs	p.P424fs	PCED1A_ENST00000356872.3_Frame_Shift_Ins_p.P373fs	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	424																	TGCCTGCAGGGCCCCCCCATTC	0.624																																						ENST00000360652.2																			0											c.(1267-1272)ggcctgfs		PC-esterase domain containing 1A																																				SO:0001589	frameshift_variant	64773							g.chr20:2816203_2816204insC	AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 81"", ""family with sequence similarity 113, member A"""	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.1270dupG	20.37:g.2816210_2816210dupC	ENSP00000353868:p.Pro424fs		Somatic				PCED1A_ENST00000356872.3_Frame_Shift_Ins_p.L373fs	p.L424fs	NM_022760.3	NP_073597.2	WXS	Illumina GAIIx	Phase_I					8	1771_1772	-								Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Frame_Shift_Ins	INS	ENST00000360652.2	37	c.1269_1270insG	CCDS13035.1																																																																																				0.624	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760		7	155						7	155	---	---	---	---
KIF16B	55614	broad.mit.edu	37	20	16407830	16407831	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr20:16407830_16407831insC	ENST00000354981.2	-	15	1687_1688	c.1530_1531insG	c.(1528-1533)gggacafs	p.T511fs	KIF16B_ENST00000355755.3_Frame_Shift_Ins_p.T511fs|KIF16B_ENST00000408042.1_Frame_Shift_Ins_p.T511fs|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	511	FHA.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AGAGTCACTGTCCCCCCGATAT	0.431																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(1528-1533)ggcagtfs		kinesin family member 16B																																				SO:0001589	frameshift_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16407830_16407831insC	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1531dupG	20.37:g.16407836_16407836dupC	ENSP00000347076:p.Thr511fs		Somatic				KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Frame_Shift_Ins_p.S511fs|KIF16B_ENST00000355755.3_Frame_Shift_Ins_p.S511fs	p.S511fs	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	WXS	Illumina GAIIx	Phase_I	Q96L93	KI16B_HUMAN			15	1687_1688	-			511			FHA.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Frame_Shift_Ins	INS	ENST00000354981.2	37	c.1530_1531insG	CCDS13122.1																																																																																				0.431	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		8	419						8	419	---	---	---	---
DNMT3B	1789	broad.mit.edu	37	20	31384650	31384651	+	Frame_Shift_Ins	INS	-	-	G	rs200912653		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr20:31384650_31384651insG	ENST00000328111.2	+	13	1673_1674	c.1352_1353insG	c.(1351-1356)gaggggfs	p.EG451fs	DNMT3B_ENST00000375623.4_Stop_Codon_Ins|DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.EG431fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.EG443fs|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.EG355fs|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.EG389fs|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.EG431fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.EG431fs	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	451	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|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)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCTCTTTGAGGGGGGGCTCT	0.559																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1351-1353)gggfs		DNA (cytosine-5-)-methyltransferase 3 beta																																				SO:0001589	frameshift_variant	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31384650_31384651insG		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1359dupG	20.37:g.31384657_31384657dupG	ENSP00000328547:p.Glu451fs		Somatic				DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000375623.4_Stop_Codon_Ins|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.G355fs|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.G443fs|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.G389fs	p.G451fs	NM_006892.3	NP_008823.1	WXS	Illumina GAIIx	Phase_I	Q9UBC3	DNM3B_HUMAN			13	1673_1674	+			451			ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Frame_Shift_Ins	INS	ENST00000328111.2	37	c.1352_1353insG	CCDS13205.1																																																																																				0.559	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		11	270						11	270	---	---	---	---
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G	rs559154076	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)cccaatfs	p.N103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}.				negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)	extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535																																					GBM(64;162 1089 31780 33427 34538)	ENST00000338380.2																			0				lung(3)|ovary(1)	4						c.(304-309)ccatttfs		secretory leukocyte peptidase inhibitor																																				SO:0001589	frameshift_variant	6590					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:43881730_43881731insG	X04502	CCDS13347.1	20q13.12	2013-01-21	2005-08-17		ENSG00000124107	ENSG00000124107		"""WAP four-disulfide core domain containing"""	11092	protein-coding gene	gene with protein product	"""antileukoproteinase"""	107285	"""secretory leukocyte protease inhibitor (antileukoproteinase)"""			3640338, 12206714	Standard	NM_003064		Approved	HUSI-I, ALK1, ALP, BLPI, HUSI, WAP4, WFDC4	uc002xnm.1	P03973	OTTHUMG00000033075	ENST00000338380.2:c.307dupC	20.37:g.43881737_43881737dupG	ENSP00000342082:p.Asn103fs		Somatic					p.F103fs	NM_003064.2	NP_003055.1	WXS	Illumina GAIIx	Phase_I	P03973	SLPI_HUMAN			3	326_327	-		Myeloproliferative disorder(115;0.0122)	103			Elastase inhibitory domain.|WAP 2.		B2R5H8|P07757	Frame_Shift_Ins	INS	ENST00000338380.2	37	c.306_307insC	CCDS13347.1																																																																																				0.535	SLPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080494.3			13	348						13	348	---	---	---	---
RBPJL	11317	broad.mit.edu	37	20	43940237	43940238	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr20:43940237_43940238insC	ENST00000343694.3	+	4	338_339	c.266_267insC	c.(265-270)tgccccfs	p.CP89fs	RBPJL_ENST00000372743.1_Frame_Shift_Ins_p.CP89fs|RBPJL_ENST00000372741.3_Frame_Shift_Ins_p.CP89fs	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	89					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				AGGTTCTTCTGCCCCCCGCCCT	0.604											OREG0025979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000343694.3																			0				NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(265-267)tccfs		recombination signal binding protein for immunoglobulin kappa J region-like																																				SO:0001589	frameshift_variant	11317				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:43940237_43940238insC	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.272dupC	20.37:g.43940243_43940243dupC	ENSP00000341243:p.Cys89fs		Somatic	OREG0025979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	920	RBPJL_ENST00000372741.3_Frame_Shift_Ins_p.S89fs|RBPJL_ENST00000372743.1_Frame_Shift_Ins_p.S89fs	p.S89fs	NM_014276.2	NP_055091.2	WXS	Illumina GAIIx	Phase_I	Q9UBG7	RBPJL_HUMAN			4	338_339	+		Myeloproliferative disorder(115;0.0122)	89					O95723|Q5QPU9|Q5QPV0|Q9ULV9	Frame_Shift_Ins	INS	ENST00000343694.3	37	c.266_267insC	CCDS13349.1																																																																																				0.604	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276		9	216						9	216	---	---	---	---
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr20:47989771_47989772insG	ENST00000371741.4	-	2	2491_2492	c.2325_2326insC	c.(2323-2328)cccaaafs	p.K776fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	776					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	GGGAGGCTTTTGGGGGGGCTGG	0.545																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(2323-2328)ccaaagfs		potassium voltage-gated channel, Shab-related subfamily, member 1																																				SO:0001589	frameshift_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47989771_47989772insG	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2326dupC	20.37:g.47989778_47989778dupG	ENSP00000360806:p.Lys776fs		Somatic					p.PK775fs	NM_004975.2	NP_004966.1	WXS	Illumina GAIIx	Phase_I	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2491_2492	-			775					Q14193	Frame_Shift_Ins	INS	ENST00000371741.4	37	c.2325_2326insC	CCDS13418.1																																																																																				0.545	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		39	847						39	847	---	---	---	---
ATP9A	10079	broad.mit.edu	37	20	50305661	50305662	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr20:50305661_50305662insG	ENST00000338821.5	-	9	1004_1005	c.740_741insC	c.(739-741)ccgfs	p.P247fs	ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	247					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCTCGCTGATCGGGGGGTCGCT	0.564																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(739-741)catfs		ATPase, class II, type 9A																																				SO:0001589	frameshift_variant	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50305661_50305662insG	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.741dupC	20.37:g.50305667_50305667dupG	ENSP00000342481:p.Pro247fs		Somatic				ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	p.H247fs	NM_006045.1	NP_006036.1	WXS	Illumina GAIIx	Phase_I	O75110	ATP9A_HUMAN			9	1004_1005	-			247					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Frame_Shift_Ins	INS	ENST00000338821.5	37	c.740_741insC	CCDS33489.1																																																																																				0.564	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		7	390						7	390	---	---	---	---
ZFP64	55734	broad.mit.edu	37	20	50769075	50769076	+	Frame_Shift_Ins	INS	-	-	G	rs535504707		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr20:50769075_50769076insG	ENST00000216923.4	-	6	2004_2005	c.1655_1656insC	c.(1654-1656)cctfs	p.P552fs	ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs|ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371518.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	552					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCGAGGACTGAGGGGGGGCGAT	0.673																																						ENST00000216923.4																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1654-1656)ccafs		ZFP64 zinc finger protein			,,,	11,4249		0,11,2119					,,,	-3.3	0.0			34	3,8249		0,3,4123	no	intron,frameshift,frameshift,frameshift	ZFP64	NM_199427.2,NM_199426.1,NM_022088.4,NM_018197.2	,,,	0,14,6242	A1A1,A1R,RR		0.0364,0.2582,0.1119	,,,	,,,		14,12498				SO:0001589	frameshift_variant	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50769075_50769076insG	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1656dupC	20.37:g.50769082_50769082dupG	ENSP00000216923:p.Pro552fs		Somatic				ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs|ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron	p.P552fs	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	WXS	Illumina GAIIx	Phase_I	Q9NPA5	ZF64A_HUMAN			6	2004_2005	-			552					Q9NTS7|Q9NVH4	Frame_Shift_Ins	INS	ENST00000216923.4	37	c.1655_1656insC	CCDS13440.1																																																																																				0.673	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		12	153						12	153	---	---	---	---
KRTAP26-1	388818	broad.mit.edu	37	21	31691917	31691918	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr21:31691917_31691918insG	ENST00000360542.3	-	1	689_690	c.436_437insC	c.(436-438)caafs	p.Q146fs		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	146						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						CAAGCAGAATTGGGGGCGATAG	0.55																																						ENST00000360542.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(436-438)attfs		keratin associated protein 26-1																																				SO:0001589	frameshift_variant	388818					intermediate filament		g.chr21:31691917_31691918insG	AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"""Keratin associated proteins"""	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.437dupC	21.37:g.31691922_31691922dupG	ENSP00000353742:p.Gln146fs		Somatic					p.I146fs	NM_203405.1	NP_981950.1	WXS	Illumina GAIIx	Phase_I	Q6PEX3	KR261_HUMAN			1	689_690	-			146					B0RZD3	Frame_Shift_Ins	INS	ENST00000360542.3	37	c.436_437insC	CCDS13588.1																																																																																				0.550	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128218.1	NM_203405		9	682						9	682	---	---	---	---
TCP10L	140290	broad.mit.edu	37	21	33949090	33949091	+	Frame_Shift_Ins	INS	-	-	C	rs373347740|rs541034925	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr21:33949090_33949091insC	ENST00000300258.3	-	5	754_755	c.641_642insG	c.(640-642)ggtfs	p.G214fs	TCP10L_ENST00000472557.1_Frame_Shift_Ins_p.G128fs|LINC00846_ENST00000334165.4_lincRNA	NM_144659.5	NP_653260.1	Q8TDR4	TCP1L_HUMAN	t-complex 10-like	214					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	protein self-association (GO:0043621)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)			breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						ATCTTCAGACACCCCCCCGTCT	0.48													CCCCCCC|CCCCCCC|CCCCCCCC|insertion	4	0.000798722	0.0	0.0	5008	,	,		15894	0.0		0.002	False		,,,				2504	0.002					ENST00000300258.3																			0				breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						c.(640-642)ggtfs		t-complex 10-like																																				SO:0001589	frameshift_variant	140290							g.chr21:33949090_33949091insC	AF115967	CCDS13616.1	21p22.11	2012-09-20	2012-09-20		ENSG00000242220	ENSG00000242220			11657	protein-coding gene	gene with protein product		608365	"""t-complex 10 (a murine tcp homolog)-like"", ""t-complex 10 (mouse)-like"""			10830953	Standard	NM_144659		Approved	PRED77		Q8TDR4	OTTHUMG00000064901	ENST00000300258.3:c.642dupG	21.37:g.33949097_33949097dupC	ENSP00000300258:p.Gly214fs		Somatic				TCP10L_ENST00000491828.1_5'UTR	p.G214fs	NM_144659.5	NP_653260.1	WXS	Illumina GAIIx	Phase_I					5	754_755	-								Q53EW0|Q96LN5	Frame_Shift_Ins	INS	ENST00000300258.3	37	c.641_642insG	CCDS13616.1																																																																																				0.480	TCP10L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139350.1	NM_144659		9	180						9	180	---	---	---	---
ITSN1	6453	broad.mit.edu	37	21	35122566	35122567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr21:35122566_35122567insC	ENST00000381318.3	+	6	753_754	c.465_466insC	c.(466-468)cccfs	p.P156fs	ITSN1_ENST00000437442.2_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000381285.4_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000399352.1_Frame_Shift_Ins_p.P156fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399326.3_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000379960.5_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000399353.1_Frame_Shift_Ins_p.P119fs|ITSN1_ENST00000399367.3_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000399338.4_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000381291.4_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000399355.2_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000399349.1_Frame_Shift_Ins_p.P156fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	156					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAGCAGCTGTGCCCCCCCTGGC	0.525																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(463-468)gtccccfs		intersectin 1 (SH3 domain protein)																																				SO:0001589	frameshift_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35122566_35122567insC	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.472dupC	21.37:g.35122573_35122573dupC	ENSP00000370719:p.Pro156fs		Somatic				ITSN1_ENST00000399349.1_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399326.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399338.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399367.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000381285.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000437442.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399355.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399352.1_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399353.1_Frame_Shift_Ins_p.VP118fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000379960.5_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000381291.4_Frame_Shift_Ins_p.VP155fs	p.VP155fs	NM_003024.2	NP_003015.2	WXS	Illumina GAIIx	Phase_I	Q15811	ITSN1_HUMAN			6	753_754	+			155					A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Frame_Shift_Ins	INS	ENST00000381318.3	37	c.465_466insC	CCDS33545.1																																																																																				0.525	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		7	165						7	165	---	---	---	---
KCNE1	3753	broad.mit.edu	37	21	35821826	35821827	+	Frame_Shift_Ins	INS	-	-	G	rs372398235|rs199473351	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr21:35821826_35821827insG	ENST00000337385.3	-	3	481_482	c.106_107insC	c.(106-108)cgcfs	p.R36fs	KCNE1_ENST00000432085.1_Frame_Shift_Ins_p.R36fs|KCNE1_ENST00000416357.2_Frame_Shift_Ins_p.R36fs|KCNE1_ENST00000399286.2_Frame_Shift_Ins_p.R36fs|KCNE1_ENST00000399289.3_Frame_Shift_Ins_p.R36fs|KCNE1_ENST00000399284.1_Frame_Shift_Ins_p.R36fs	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	36					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular response to cAMP (GO:0071320)|membrane repolarization (GO:0086009)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|protein N-linked glycosylation (GO:0006487)|protein O-linked glycosylation (GO:0006493)|regulation of delayed rectifier potassium channel activity (GO:1902259)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	potassium channel regulator activity (GO:0015459)|telethonin binding (GO:0031433)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	GTCACTGCTGCGGGGGGACCTG	0.614																																						ENST00000337385.3																			0				large_intestine(4)|lung(1)|ovary(2)	7	GRCh37	CM057110	KCNE1	M		c.(106-108)cagfs		potassium voltage-gated channel, Isk-related family, member 1	Indapamide(DB00808)																																			SO:0001589	frameshift_variant	3753				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr21:35821826_35821827insG	L28168	CCDS13636.1	21q22.1-q22.2	2014-09-17			ENSG00000180509	ENSG00000180509		"""Potassium channels"""	6240	protein-coding gene	gene with protein product		176261				8432548	Standard	NM_001127670		Approved	minK, ISK, JLNS2, LQT5	uc010gmp.4	P15382	OTTHUMG00000086236	ENST00000337385.3:c.107dupC	21.37:g.35821832_35821832dupG	ENSP00000337255:p.Arg36fs		Somatic				KCNE1_ENST00000432085.1_Frame_Shift_Ins_p.Q36fs|KCNE1_ENST00000399284.1_Frame_Shift_Ins_p.Q36fs|KCNE1_ENST00000399289.3_Frame_Shift_Ins_p.Q36fs|KCNE1_ENST00000399286.2_Frame_Shift_Ins_p.Q36fs|KCNE1_ENST00000416357.2_Frame_Shift_Ins_p.Q36fs	p.Q36fs	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	WXS	Illumina GAIIx	Phase_I	P15382	KCNE1_HUMAN			3	481_482	-			36					A5H1P2|Q8N709|Q91Z94	Frame_Shift_Ins	INS	ENST00000337385.3	37	c.106_107insC	CCDS13636.1																																																																																				0.614	KCNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194155.1			7	331						7	331	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)cccgaafs	p.E1093fs		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1093	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E1093K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			1	Substitution - Missense(1)	p.E1093K(1)	skin(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(3274-3279)ccaaaafs		Down syndrome cell adhesion molecule																																				SO:0001589	frameshift_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41514614_41514615insG	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3277dupC	21.37:g.41514621_41514621dupG	ENSP00000383303:p.Glu1093fs		Somatic					p.PK1092fs	NM_001389.3	NP_001380.2	WXS	Illumina GAIIx	Phase_I	O60469	DSCAM_HUMAN			18	3753_3754	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1092			Fibronectin type-III 3.		O60468	Frame_Shift_Ins	INS	ENST00000400454.1	37	c.3276_3277insC	CCDS42929.1																																																																																				0.406	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		16	559						16	559	---	---	---	---
PCNT	5116	broad.mit.edu	37	21	47863767	47863768	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr21:47863767_47863768insC	ENST00000359568.5	+	45	9852_9853	c.9745_9746insC	c.(9745-9747)tccfs	p.S3249fs	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3249					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.T3252fs*84(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AACCAGAGAGTCCCCCCCAACC	0.579																																						ENST00000359568.5																			1	Insertion - Frameshift(1)	p.T3252fs*84(1)	lung(1)	NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(9745-9747)cccfs		pericentrin																																				SO:0001589	frameshift_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47863767_47863768insC	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.9752dupC	21.37:g.47863774_47863774dupC	ENSP00000352572:p.Ser3249fs		Somatic				PCNT_ENST00000480896.1_3'UTR	p.P3249fs	NM_006031.5	NP_006022.3	WXS	Illumina GAIIx	Phase_I	O95613	PCNT_HUMAN			45	9852_9853	+	Breast(49;0.112)		3249					O43152|Q7Z7C9	Frame_Shift_Ins	INS	ENST00000359568.5	37	c.9745_9746insC	CCDS33592.1																																																																																				0.579	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		7	92						7	92	---	---	---	---
CECR2	27443	broad.mit.edu	37	22	18022285	18022286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:18022285_18022286insC	ENST00000400585.2	+	16	2402_2403	c.1964_1965insC	c.(1963-1968)gtccccfs	p.VP655fs	CECR2_ENST00000262608.8_Frame_Shift_Ins_p.VP797fs|CECR2_ENST00000400573.5_Frame_Shift_Ins_p.VP796fs			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	838					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGACCACCTGTCCCCCCCAACC	0.609																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(2389-2391)gccfs		cat eye syndrome chromosome region, candidate 2																																				SO:0001589	frameshift_variant	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022285_18022286insC	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1971dupC	22.37:g.18022292_18022292dupC	ENSP00000383428:p.Val655fs		Somatic				CECR2_ENST00000400573.4_Frame_Shift_Ins_p.A796fs|CECR2_ENST00000400585.2_Frame_Shift_Ins_p.A655fs	p.A797fs	NM_031413.3	NP_113601.2	WXS	Illumina GAIIx	Phase_I	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2390_2391	+		all_epithelial(15;0.139)	838					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Frame_Shift_Ins	INS	ENST00000400585.2	37	c.2390_2391insC																																																																																					0.609	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		8	237						8	237	---	---	---	---
CECR2	27443	broad.mit.edu	37	22	18022443	18022444	+	Frame_Shift_Ins	INS	-	-	G	rs540078259	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:18022443_18022444insG	ENST00000400585.2	+	16	2560_2561	c.2122_2123insG	c.(2122-2124)cggfs	p.R708fs	CECR2_ENST00000262608.8_Frame_Shift_Ins_p.R850fs|CECR2_ENST00000400573.5_Frame_Shift_Ins_p.R849fs			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	891					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCAGGCTCTTCGGGGGGTGCAG	0.634																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(2548-2550)gggfs		cat eye syndrome chromosome region, candidate 2																																				SO:0001589	frameshift_variant	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022443_18022444insG	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.2128dupG	22.37:g.18022449_18022449dupG	ENSP00000383428:p.Arg708fs		Somatic				CECR2_ENST00000400573.4_Frame_Shift_Ins_p.G849fs|CECR2_ENST00000400585.2_Frame_Shift_Ins_p.G708fs	p.G850fs	NM_031413.3	NP_113601.2	WXS	Illumina GAIIx	Phase_I	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2548_2549	+		all_epithelial(15;0.139)	891					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Frame_Shift_Ins	INS	ENST00000400585.2	37	c.2548_2549insG																																																																																					0.634	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		8	182						8	182	---	---	---	---
SERPIND1	3053	broad.mit.edu	37	22	21138419	21138420	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:21138419_21138420insG	ENST00000215727.5	+	3	1332_1333	c.1049_1050insG	c.(1048-1053)gtggggfs	p.VG350fs	PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.VG350fs|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	350					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	CTGGAATACGTGGGGGGCATCA	0.54											OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000215727.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1048-1050)gggfs		serpin peptidase inhibitor, clade D (heparin cofactor), member 1	Ardeparin(DB00407)																																			SO:0001589	frameshift_variant	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21138419_21138420insG	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.1055dupG	22.37:g.21138425_21138425dupG	ENSP00000215727:p.Val350fs		Somatic	OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	746	SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.G350fs|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron	p.G350fs	NM_000185.3	NP_000176.2	WXS	Illumina GAIIx	Phase_I	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		3	1332_1333	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	350					B2RAI1|D3DX34|Q6IBZ5	Frame_Shift_Ins	INS	ENST00000215727.5	37	c.1049_1050insG	CCDS13783.1																																																																																				0.540	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		7	449						7	449	---	---	---	---
BMS1P20	96610	broad.mit.edu	37	22	22661181	22661182	+	RNA	INS	-	-	G	rs73880611	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:22661181_22661182insG	ENST00000426066.1	+	0	273_274					NR_027293.1				BMS1 pseudogene 20																		TTTCCCCCCCCACCCCGTCATG	0.416																																						ENST00000426066.1																			0																																																			96610							g.chr22:22661181_22661182insG			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661181_22661182insG			Somatic						NR_027293.1		WXS	Illumina GAIIx	Phase_I					0	273_274	+									RNA	INS	ENST00000426066.1	37																																																																																						0.416	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			7	209						7	209	---	---	---	---
FBXO7	25793	broad.mit.edu	37	22	32894280	32894281	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:32894280_32894281insG	ENST00000266087.7	+	9	1659_1660	c.1332_1333insG	c.(1333-1335)gggfs	p.G445fs	FBXO7_ENST00000397426.1_Frame_Shift_Ins_p.G331fs|FBXO7_ENST00000382058.3_Frame_Shift_Ins_p.G366fs	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	445	Important for interaction with CDK6.|Pro-rich.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.I444I(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGGAATTATCGGGGGTGAATA	0.53																																						ENST00000266087.7																			2	Substitution - coding silent(2)	p.I444I(2)	large_intestine(2)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1330-1335)atggggfs		F-box protein 7																																				SO:0001589	frameshift_variant	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32894280_32894281insG	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.1337dupG	22.37:g.32894285_32894285dupG	ENSP00000266087:p.Gly445fs		Somatic				FBXO7_ENST00000397426.1_Frame_Shift_Ins_p.MG330fs|FBXO7_ENST00000382058.3_Frame_Shift_Ins_p.MG365fs	p.MG444fs	NM_012179.3	NP_036311.3	WXS	Illumina GAIIx	Phase_I	Q9Y3I1	FBX7_HUMAN			9	1659_1660	+			444					B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Frame_Shift_Ins	INS	ENST00000266087.7	37	c.1332_1333insG	CCDS13907.1																																																																																				0.530	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			8	713						8	713	---	---	---	---
DDX17	10521	broad.mit.edu	37	22	38895454	38895455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:38895454_38895455insC	ENST00000396821.3	-	3	587_588	c.488_489insG	c.(487-489)ggafs	p.G163fs	DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs|DDX17_ENST00000432525.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	163					ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)	p.G163fs*20(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCAC	0.381																																					Ovarian(55;1085 1454 6392 21425)	ENST00000396821.3																			1	Deletion - Frameshift(1)	p.G163fs*20(1)	lung(1)	breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(487-489)ggafs		DEAD (Asp-Glu-Ala-Asp) box helicase 17																																				SO:0001589	frameshift_variant	10521				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	g.chr22:38895454_38895455insC	U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"""DEAD-boxes"""	2740	protein-coding gene	gene with protein product		608469	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"""			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.489dupG	22.37:g.38895461_38895461dupC	ENSP00000380033:p.Gly163fs		Somatic				DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs	p.G163fs	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	WXS	Illumina GAIIx	Phase_I	Q92841	DDX17_HUMAN			3	587_588	-	Melanoma(58;0.0286)		84			Helicase ATP-binding.		B1AHM0|Q69YT1|Q6ICD6	Frame_Shift_Ins	INS	ENST00000396821.3	37	c.488_489insG	CCDS46706.1																																																																																				0.381	DDX17-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321476.2	NM_030881		14	351						14	351	---	---	---	---
ATF4	468	broad.mit.edu	37	22	39917950	39917951	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:39917950_39917951insC	ENST00000337304.2	+	2	1281_1282	c.399_400insC	c.(400-402)cccfs	p.P134fs	ATF4_ENST00000396680.1_Frame_Shift_Ins_p.P134fs|ATF4_ENST00000404241.2_Frame_Shift_Ins_p.P134fs	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	134					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	CTAATAAGCAGCCCCCCCAGAC	0.525																																						ENST00000337304.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(397-402)caccccfs		activating transcription factor 4																																				SO:0001589	frameshift_variant	468				cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:39917950_39917951insC	D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"""basic leucine zipper proteins"""	786	protein-coding gene	gene with protein product	"""tax-responsive enhancer element B67"""	604064	"""activating transcription factor 4 (tax-responsive enhancer element B67)"""	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.406dupC	22.37:g.39917957_39917957dupC	ENSP00000336790:p.Pro134fs		Somatic				ATF4_ENST00000404241.2_Frame_Shift_Ins_p.HP133fs|ATF4_ENST00000396680.1_Frame_Shift_Ins_p.HP133fs	p.HP133fs	NM_001675.2	NP_001666.2	WXS	Illumina GAIIx	Phase_I	P18848	ATF4_HUMAN			2	1281_1282	+	Melanoma(58;0.04)		133					Q9UH31	Frame_Shift_Ins	INS	ENST00000337304.2	37	c.399_400insC	CCDS13996.1																																																																																				0.525	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321305.1	NM_001675		11	305						11	305	---	---	---	---
POLR3H	171568	broad.mit.edu	37	22	41926704	41926704	+	Frame_Shift_Del	DEL	G	G	-	rs372733493		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:41926704delG	ENST00000355209.4	-	5	891	c.548delC	c.(547-549)ccgfs	p.P183fs	POLR3H_ENST00000407461.1_Frame_Shift_Del_p.P183fs|POLR3H_ENST00000337566.5_Frame_Shift_Del_p.P154fs|POLR3H_ENST00000396504.2_Frame_Shift_Del_p.P183fs|POLR3H_ENST00000420561.1_5'Flank	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	183					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|nucleobase-containing compound metabolic process (GO:0006139)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						AAGCGTGTACGGAGCCTCCTT	0.622																																						ENST00000355209.4																			0				breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						c.(547-549)cgfs		polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)							70.0	63.0	65.0					22																	41926704		2203	4300	6503	SO:0001589	frameshift_variant	171568				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr22:41926704delG	AB051452	CCDS14018.1, CCDS33651.1	22q13	2013-01-21			ENSG00000100413	ENSG00000100413		"""RNA polymerase subunits"""	30349	protein-coding gene	gene with protein product						11258795, 12391170	Standard	XR_244356		Approved	RPC8, KIAA1665	uc003baf.3	Q9Y535	OTTHUMG00000150971	ENST00000355209.4:c.548delC	22.37:g.41926704delG	ENSP00000347345:p.Pro183fs		Somatic				POLR3H_ENST00000337566.5_Frame_Shift_Del_p.P154fs|POLR3H_ENST00000396504.2_Frame_Shift_Del_p.P183fs|POLR3H_ENST00000407461.1_Frame_Shift_Del_p.P183fs	p.P183fs	NM_001018050.2	NP_001018060.1	WXS	Illumina GAIIx	Phase_I	Q9Y535	RPC8_HUMAN			5	891	-			183					B0QYH9|Q5M7Y8|Q96AE3|Q9BY95	Frame_Shift_Del	DEL	ENST00000355209.4	37	c.548delC	CCDS14018.1																																																																																				0.622	POLR3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320701.1	NM_138338		21	35						21	35	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:42610947_42610948insG	ENST00000359486.3	-	1	500_501	c.364_365insC	c.(364-366)cagfs	p.Q122fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.Q122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	122				Q -> R (in Ref. 1). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTGCTCCCCTGGGGGGGTCCA	0.564																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(364-366)gggfs		transcription factor 20 (AR1)																																				SO:0001589	frameshift_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610947_42610948insG	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.365dupC	22.37:g.42610954_42610954dupG	ENSP00000352463:p.Gln122fs		Somatic				TCF20_ENST00000335626.4_Frame_Shift_Ins_p.G122fs	p.G122fs	NM_005650.1	NP_005641.1	WXS	Illumina GAIIx	Phase_I	Q9UGU0	TCF20_HUMAN			1	500_501	-			122	Q -> R (in Ref. 1).				A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Frame_Shift_Ins	INS	ENST00000359486.3	37	c.364_365insC	CCDS14033.1																																																																																				0.564	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		25	793						25	793	---	---	---	---
TBC1D22A	25771	broad.mit.edu	37	22	47188443	47188444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:47188443_47188444insC	ENST00000337137.4	+	2	255_256	c.89_90insC	c.(88-93)caccccfs	p.HP30fs	TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.HP30fs	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	30							protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGTGCCCAGCACCCCCCCTTTG	0.569																																						ENST00000337137.4																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22						c.(88-90)cccfs		TBC1 domain family, member 22A																																				SO:0001589	frameshift_variant	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47188443_47188444insC	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.96dupC	22.37:g.47188450_47188450dupC	ENSP00000336724:p.His30fs		Somatic				TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs	p.P30fs	NM_014346.2	NP_055161.1	WXS	Illumina GAIIx	Phase_I	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	2	255_256	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	30					B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Frame_Shift_Ins	INS	ENST00000337137.4	37	c.89_90insC	CCDS14078.1																																																																																				0.569	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		42	1000						42	1000	---	---	---	---
CA5B	11238	broad.mit.edu	37	X	15790675	15790676	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:15790675_15790676insG	ENST00000318636.3	+	4	533_534	c.397_398insG	c.(397-399)tggfs	p.W133fs	CA5B_ENST00000454127.2_Frame_Shift_Ins_p.W133fs	NM_007220.3	NP_009151.1	Q8WTZ4	CA5BL_HUMAN	carbonic anhydrase VB, mitochondrial	87						mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					CCATTTTCACTGGGGGGCCATC	0.495																																						ENST00000318636.3																			0				endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9						c.(397-399)gggfs		carbonic anhydrase VB, mitochondrial																																				SO:0001589	frameshift_variant	11238				one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding	g.chrX:15790675_15790676insG	AB021660	CCDS14171.1	Xp22.1	2008-08-13			ENSG00000169239	ENSG00000169239		"""Carbonic anhydrases"""	1378	protein-coding gene	gene with protein product		300230				10409679	Standard	XM_005274442		Approved		uc004cxe.3	Q9Y2D0	OTTHUMG00000021183	ENST00000318636.3:c.403dupG	X.37:g.15790681_15790681dupG	ENSP00000314099:p.Trp133fs		Somatic				CA5B_ENST00000454127.2_Frame_Shift_Ins_p.G133fs	p.G133fs	NM_007220.3	NP_009151.1	WXS	Illumina GAIIx	Phase_I	Q9Y2D0	CAH5B_HUMAN			4	533_534	+	Hepatocellular(33;0.183)		133					A6NEZ4	Frame_Shift_Ins	INS	ENST00000318636.3	37	c.397_398insG	CCDS14171.1																																																																																				0.495	CA5B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354933.1	NM_007220		8	802						8	802	---	---	---	---
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	RNA	INS	-	-	G	rs41305745		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:48159107_48159108insG	ENST00000608568.1	-	0	580					NR_073393.1		Q7RTT3	SSX9_HUMAN	synovial sarcoma, X breakpoint 9						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TTGGTTTTCCCGGGGGGCACAG	0.49																																						ENST00000376909.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						c.(424-426)cggfs																																								280660							g.chrX:48159107_48159108insG	BK000689		Xp11.23	2013-01-16			ENSG00000204648	ENSG00000204648			19655	other	unknown		300544				12216073	Standard	NR_073393		Approved		uc031tjk.1	Q7RTT3	OTTHUMG00000021490		X.37:g.48159113_48159113dupG			Somatic				SSX9_ENST00000407081.2_Frame_Shift_Ins_p.R142fs	p.R142fs			WXS	Illumina GAIIx	Phase_I					6	487_488	-									Frame_Shift_Ins	INS	ENST00000608568.1	37	c.425_426insC																																																																																					0.490	SSX9-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000472372.1	NR_073393		10	569						10	569	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:48207024_48207025insC	ENST00000298396.2	-	7	533_534	c.481_482insG	c.(481-483)gaafs	p.E161fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.E73fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	161					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(1)|lung(9)	13						CCAGGCATGTTCCCCCCTTTTG	0.48																																					Colon(37;227 826 19399 40970 48007)	ENST00000298396.2																			0				endometrium(3)|large_intestine(1)|lung(9)	13						c.(481-483)acafs		synovial sarcoma, X breakpoint 3																																				SO:0001589	frameshift_variant	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48207024_48207025insC	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.482dupG	X.37:g.48207030_48207030dupC	ENSP00000298396:p.Glu161fs		Somatic				SSX3_ENST00000376895.1_Frame_Shift_Ins_p.T73fs	p.T161fs	NM_021014.2	NP_066294.1	WXS	Illumina GAIIx	Phase_I	Q99909	SSX3_HUMAN			7	533_534	-			161					O60223|Q5JQZ3|Q9BRW7	Frame_Shift_Ins	INS	ENST00000298396.2	37	c.481_482insG	CCDS14291.1																																																																																				0.480	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		16	2059						16	2059	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:48209462_48209463insG	ENST00000298396.2	-	6	477_478	c.425_426insC	c.(424-426)ccgfs	p.P142fs	SSX3_ENST00000376893.3_Frame_Shift_Ins_p.P142fs|SSX3_ENST00000376895.1_Frame_Shift_Ins_p.P54fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.P142Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						TTGGTTTTCCCGGGGGGCACAG	0.495																																					Colon(37;227 826 19399 40970 48007)	ENST00000298396.2																			2	Substitution - Missense(2)	p.P142Q(2)	lung(2)	endometrium(3)|large_intestine(1)|lung(9)	13						c.(424-426)cggfs		synovial sarcoma, X breakpoint 3																																				SO:0001589	frameshift_variant	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48209462_48209463insG	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.426dupC	X.37:g.48209468_48209468dupG	ENSP00000298396:p.Pro142fs		Somatic				SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs|SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs	p.R142fs	NM_021014.2	NP_066294.1	WXS	Illumina GAIIx	Phase_I	Q99909	SSX3_HUMAN			6	477_478	-			142					O60223|Q5JQZ3|Q9BRW7	Frame_Shift_Ins	INS	ENST00000298396.2	37	c.425_426insC	CCDS14291.1																																																																																				0.495	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		10	823						10	823	---	---	---	---
IL2RG	3561	broad.mit.edu	37	X	70327613	70327614	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:70327613_70327614insG	ENST00000374202.2	-	8	1173_1174	c.1082_1083insC	c.(1081-1083)ccafs	p.P361fs	IL2RG_ENST00000374188.3_Frame_Shift_Ins_p.P90fs|IL2RG_ENST00000456850.2_Frame_Shift_Ins_p.P171fs|CXorf65_ENST00000374251.5_5'Flank	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	361					immune response (GO:0006955)|interleukin-2-mediated signaling pathway (GO:0038110)|interleukin-4-mediated signaling pathway (GO:0035771)|interleukin-7-mediated signaling pathway (GO:0038111)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|interleukin-2 binding (GO:0019976)			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GGGTGTAACATGGGGGGGCCCA	0.584									Severe Combined Immunodeficiency, X-linked																													ENST00000374202.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15						c.(1081-1083)ctgfs		interleukin 2 receptor, gamma	Aldesleukin(DB00041)|Denileukin diftitox(DB00004)																																			SO:0001589	frameshift_variant	3561	Severe Combined Immunodeficiency, X-linked	Familial Cancer Database	Agammaglobulinemia, Swiss Type	immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding	g.chrX:70327613_70327614insG	D11086	CCDS14406.1	Xq13	2014-09-17	2010-06-24		ENSG00000147168	ENSG00000147168		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6010	protein-coding gene	gene with protein product		308380	"""severe combined immunodeficiency"", ""combined immunodeficiency, X-linked"""	SCIDX1, IMD4, CIDX		1631559, 7883965	Standard	NM_000206		Approved	CD132	uc004dyw.2	P31785	OTTHUMG00000021787	ENST00000374202.2:c.1083dupC	X.37:g.70327620_70327620dupG	ENSP00000363318:p.Pro361fs		Somatic				IL2RG_ENST00000456850.2_Frame_Shift_Ins_p.L171fs|IL2RG_ENST00000374188.3_Frame_Shift_Ins_p.L90fs	p.L361fs	NM_000206.2	NP_000197.1	WXS	Illumina GAIIx	Phase_I	P31785	IL2RG_HUMAN			8	1173_1174	-	Renal(35;0.156)		361					Q5FC12	Frame_Shift_Ins	INS	ENST00000374202.2	37	c.1082_1083insC	CCDS14406.1																																																																																				0.584	IL2RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057102.2			7	122						7	122	---	---	---	---
FRMPD3	84443	broad.mit.edu	37	X	106845402	106845403	+	Frame_Shift_Ins	INS	-	-	G	rs370910242		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:106845402_106845403insG	ENST00000276185.4	+	16	4232_4233	c.4232_4233insG	c.(4231-4236)tcggggfs	p.SG1411fs				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1411						cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						ACGTGTGCCTCGGGGGGCGAGT	0.609																																						ENST00000276185.4																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						c.(4231-4233)tggfs		FERM and PDZ domain containing 3																																				SO:0001589	frameshift_variant	84443					cytoskeleton		g.chrX:106845402_106845403insG	AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.4238dupG	X.37:g.106845408_106845408dupG	ENSP00000276185:p.Ser1411fs		Somatic					p.W1411fs			WXS	Illumina GAIIx	Phase_I	Q5JV73	FRPD3_HUMAN			16	4232_4233	+			1411					Q96JK8	Frame_Shift_Ins	INS	ENST00000276185.4	37	c.4232_4233insG																																																																																					0.609	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_042978		8	336						8	336	---	---	---	---
CAPN6	827	broad.mit.edu	37	X	110494259	110494259	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:110494259delA	ENST00000324068.1	-	8	1211	c.1044delT	c.(1042-1044)tttfs	p.F348fs	CAPN6_ENST00000541758.1_Frame_Shift_Del_p.F93fs	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	348	Domain III.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CCTTTCGGCCAAAAATAGGGT	0.488																																						ENST00000324068.1																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						c.(1042-1044)ttfs		calpain 6							331.0	293.0	306.0					X																	110494259		2203	4300	6503	SO:0001589	frameshift_variant	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110494259delA	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1044delT	X.37:g.110494259delA	ENSP00000317214:p.Phe348fs		Somatic				CAPN6_ENST00000541758.1_Frame_Shift_Del_p.F93fs	p.F348fs	NM_014289.3	NP_055104.2	WXS	Illumina GAIIx	Phase_I	Q9Y6Q1	CAN6_HUMAN			8	1211	-			348			Domain III.		D3DUY7|Q9UEQ1|Q9UJA8	Frame_Shift_Del	DEL	ENST00000324068.1	37	c.1044delT	CCDS14555.1																																																																																				0.488	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			8	2926						8	2926	---	---	---	---
ZCCHC12	170261	broad.mit.edu	37	X	117960135	117960136	+	Frame_Shift_Ins	INS	-	-	C	rs186832346		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:117960135_117960136insC	ENST00000310164.2	+	4	1435_1436	c.928_929insC	c.(928-930)tccfs	p.S310fs		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	310					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GGTCATTGATTCCCCCCACAAT	0.564																																						ENST00000310164.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						c.(928-930)cccfs		zinc finger, CCHC domain containing 12																																				SO:0001589	frameshift_variant	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117960135_117960136insC	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.934dupC	X.37:g.117960141_117960141dupC	ENSP00000308921:p.Ser310fs		Somatic					p.P310fs	NM_173798.2	NP_776159.1	WXS	Illumina GAIIx	Phase_I	Q6PEW1	ZCH12_HUMAN			4	1435_1436	+			310					B3KV48|Q6PID5|Q8N1C1	Frame_Shift_Ins	INS	ENST00000310164.2	37	c.928_929insC	CCDS14574.1																																																																																				0.564	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		12	755						12	755	---	---	---	---
XPNPEP2	7512	broad.mit.edu	37	X	128890517	128890518	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:128890517_128890518insG	ENST00000371106.3	+	14	1545_1546	c.1353_1354insG	c.(1354-1356)gggfs	p.G452fs		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	452						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TGCTGGACTCTGGGGGGCAGTA	0.579																																						ENST00000371106.3																			0				endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						c.(1351-1356)tcggggfs		X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound																																				SO:0001589	frameshift_variant	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128890517_128890518insG	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1359dupG	X.37:g.128890523_128890523dupG	ENSP00000360147:p.Gly452fs		Somatic					p.SG451fs	NM_003399.5	NP_003390.4	WXS	Illumina GAIIx	Phase_I	O43895	XPP2_HUMAN			14	1545_1546	+			451					A0AV16|O75994	Frame_Shift_Ins	INS	ENST00000371106.3	37	c.1353_1354insG	CCDS14613.1																																																																																				0.579	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		7	318						7	318	---	---	---	---
ZDHHC9	51114	broad.mit.edu	37	X	128945383	128945384	+	Splice_Site	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:128945383_128945384insG	ENST00000357166.6	-	9	1270_1271	c.879_880insC	c.(877-882)cccagt>cccCagt	p.S294fs	ZDHHC9_ENST00000371064.3_Splice_Site_p.S294fs	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	294					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|Ras palmitoyltransferase activity (GO:0043849)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						CCTGAGCACCTGGGGGGCAAGG	0.525																																						ENST00000357166.6																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						c.e9+1		zinc finger, DHHC-type containing 9																																				SO:0001630	splice_region_variant	51114					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chrX:128945383_128945384insG	AF151847	CCDS35395.1	Xq26.1	2008-02-05			ENSG00000188706	ENSG00000188706		"""Zinc fingers, DHHC-type"""	18475	protein-coding gene	gene with protein product		300646	"""zinc finger, DHHC-type containing 10"", ""chromosome X open reading frame 11"""	ZDHHC10, CXorf11		10810093	Standard	NM_001008222		Approved	ZNF379, CGI-89, ZNF380	uc004euw.3	Q9Y397	OTTHUMG00000022375	ENST00000357166.6:c.881+1->C	X.37:g.128945389_128945389dupG			Somatic				ZDHHC9_ENST00000371064.3_Splice_Site_p.C294_splice	p.C294_splice	NM_016032.3	NP_057116.2	WXS	Illumina GAIIx	Phase_I	Q9Y397	ZDHC9_HUMAN			9	1270_1271	-			294					B4F6G2|D3DTF9|Q59EK4|Q5JSW5|Q8WWS7|Q9BPY4|Q9NSP0|Q9NVL0|Q9NVR6	Splice_Site	INS	ENST00000357166.6	37	c.881_splice	CCDS35395.1																																																																																				0.525	ZDHHC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058213.1	NM_016032	Frame_Shift_Ins	9	435						9	435	---	---	---	---
GABRQ	55879	broad.mit.edu	37	X	151821590	151821591	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:151821590_151821591insC	ENST00000370306.2	+	9	1765_1766	c.1745_1746insC	c.(1744-1749)tgccccfs	p.CP582fs		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	582					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GAGGATAGTTGCCCCCCAAGCC	0.52																																						ENST00000370306.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52						c.(1744-1746)tccfs		gamma-aminobutyric acid (GABA) A receptor, theta																																				SO:0001589	frameshift_variant	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151821590_151821591insC	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1751dupC	X.37:g.151821596_151821596dupC	ENSP00000359329:p.Cys582fs		Somatic					p.S582fs	NM_018558.2	NP_061028.2	WXS	Illumina GAIIx	Phase_I	Q9UN88	GBRT_HUMAN			9	1765_1766	+	Acute lymphoblastic leukemia(192;6.56e-05)		582					A6NFN1|Q32MB4|Q9NZK8	Frame_Shift_Ins	INS	ENST00000370306.2	37	c.1745_1746insC	CCDS14707.1																																																																																				0.520	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		8	323						8	323	---	---	---	---
ADAM15	8751	broad.mit.edu	37	1	155032422	155032423	+	Frame_Shift_Ins	INS	-	-	C	rs113851811		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:155032422_155032423insC	ENST00000356955.2	+	17	2141_2142	c.2040_2041insC	c.(2041-2043)cccfs	p.P681fs	ADAM15_ENST00000531455.1_Frame_Shift_Ins_p.P691fs|ADAM15_ENST00000368410.2_Frame_Shift_Ins_p.P387fs|ADAM15_ENST00000359280.4_Frame_Shift_Ins_p.P681fs|ADAM15_ENST00000360674.4_Frame_Shift_Ins_p.P681fs|ADAM15_ENST00000368412.3_Frame_Shift_Ins_p.P681fs|ADAM15_ENST00000368413.1_Frame_Shift_Ins_p.P387fs|ADAM15_ENST00000271836.6_Frame_Shift_Ins_p.P681fs|ADAM15_ENST00000449910.2_Frame_Shift_Ins_p.P681fs|ADAM15_ENST00000355956.2_Frame_Shift_Ins_p.P681fs|ADAM15_ENST00000472434.1_3'UTR	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	681	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AGGGCTGGGCACCCCCTGACTG	0.594																																						ENST00000356955.2																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39						c.(2038-2043)gcccccfs		ADAM metallopeptidase domain 15																																				SO:0001589	frameshift_variant	8751				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr1:155032422_155032423insC	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.2045dupC	1.37:g.155032427_155032427dupC	ENSP00000349436:p.Pro681fs		Somatic				ADAM15_ENST00000368412.3_Frame_Shift_Ins_p.AP680fs|ADAM15_ENST00000368413.1_Frame_Shift_Ins_p.AP386fs|ADAM15_ENST00000531455.1_Frame_Shift_Ins_p.AP690fs|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000360674.4_Frame_Shift_Ins_p.AP680fs|ADAM15_ENST00000271836.6_Frame_Shift_Ins_p.AP680fs|ADAM15_ENST00000355956.2_Frame_Shift_Ins_p.AP680fs|ADAM15_ENST00000359280.4_Frame_Shift_Ins_p.AP680fs|ADAM15_ENST00000449910.2_Frame_Shift_Ins_p.AP680fs|ADAM15_ENST00000368410.2_Frame_Shift_Ins_p.AP386fs	p.AP680fs	NM_207197.2	NP_997080.1	WXS	Illumina GAIIx	Phase_I	Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		17	2141_2142	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		680			EGF-like.		B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Frame_Shift_Ins	INS	ENST00000356955.2	37	c.2040_2041insC	CCDS1087.1																																																																																				0.594	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		8	689						8	689	---	---	---	---
OR14I1	401994	broad.mit.edu	37	1	248844881	248844882	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:248844881_248844882insG	ENST00000342623.3	-	1	747_748	c.724_725insC	c.(724-726)cagfs	p.Q242fs		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GACAATGAGCTGGGGGGAGCAG	0.465																																						ENST00000342623.3																			0				NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(724-726)gctfs		olfactory receptor, family 14, subfamily I, member 1																																				SO:0001589	frameshift_variant	401994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248844881_248844882insG		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.725dupC	1.37:g.248844887_248844887dupG	ENSP00000339726:p.Gln242fs		Somatic					p.A242fs	NM_001004734.1	NP_001004734.1	WXS	Illumina GAIIx	Phase_I	A6ND48	O14I1_HUMAN			1	747_748	-			242						Frame_Shift_Ins	INS	ENST00000342623.3	37	c.724_725insC	CCDS31125.1																																																																																				0.465	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		7	225						7	225	---	---	---	---
TMEM127	55654	broad.mit.edu	37	2	96919781	96919783	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:96919781_96919783delTGC	ENST00000258439.3	-	4	736_738	c.480_482delGCA	c.(478-483)cagcat>cat	p.Q160del	TMEM127_ENST00000435268.1_In_Frame_Del_p.Q76del|TMEM127_ENST00000432959.1_In_Frame_Del_p.Q160del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	160					negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GTACTTCTTATGCTGCTGCTGCT	0.557																																						ENST00000258439.2																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						c.(478-483)cat>ca		transmembrane protein 127																																				SO:0001651	inframe_deletion	55654				negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane		g.chr2:96919781_96919783delTGC	AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454	ENST00000258439.3:c.480_482delGCA	2.37:g.96919790_96919792delTGC	ENSP00000258439:p.Gln160del		Somatic				TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del|TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del	p.QH160del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	WXS	Illumina GAIIx	Phase_I	O75204	TM127_HUMAN			4	736_738	-			160					D3DXH0	In_Frame_Del	DEL	ENST00000258439.3	37	c.480_482delGCA	CCDS2018.1																																																																																				0.557	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252845.3	NM_017849		8	249						8	249	---	---	---	---
ANKRD36B	57730	broad.mit.edu	37	2	98171440	98171441	+	RNA	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:98171440_98171441insC	ENST00000443455.1	-	0	1282							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		gctttgatgagcccccccactg	0.431																																						ENST00000443455.1																			0													ankyrin repeat domain 36B																																						57730							g.chr2:98171440_98171441insC	AK024934	CCDS74543.1	2q11.2	2013-01-11	2008-03-25	2008-03-25	ENSG00000196912	ENSG00000196912		"""Ankyrin repeat domain containing"""	29333	protein-coding gene	gene with protein product	"""melanoma-associated antigen"", ""CLL-associated antigen KW-1"""		"""KIAA1641"""	KIAA1641		10997877	Standard	NM_025190		Approved	FLJ21281	uc010yvc.1	Q8N2N9	OTTHUMG00000130547		2.37:g.98171447_98171447dupC			Somatic								WXS	Illumina GAIIx	Phase_I	Q8N2N9	AN36B_HUMAN			0	1282	-								Q08AK5|Q6IPR0|Q6PI49|Q8IZM7|Q8TDH6|Q96N30|Q9H759	RNA	INS	ENST00000443455.1	37																																																																																						0.431	ANKRD36B-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328967.2	NM_025190		2	4						2	4	---	---	---	---
SEMA3B	7869	broad.mit.edu	37	3	50311901	50311902	+	RNA	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr3:50311901_50311902insG	ENST00000418948.1	+	0	1479_1480							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TCCTGCCCACTGGGGGGCGCCC	0.564											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000418948.1																			0				central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6								sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B																																						7869				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity	g.chr3:50311901_50311902insG	U28369	CCDS74941.1	3p21.3	2013-01-11			ENSG00000012171	ENSG00000012171		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10724	protein-coding gene	gene with protein product		601281		SEMAA		7748561, 8633026	Standard	NM_004636		Approved	SemA, semaV, LUCA-1, sema5	uc003cyu.3	Q13214	OTTHUMG00000156970		3.37:g.50311907_50311907dupG			Somatic	OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968					WXS	Illumina GAIIx	Phase_I	Q13214	SEM3B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	0	1479_1480	+								Q6GU46|Q8TB71|Q8TDV7|Q93018|Q96GX0	RNA	INS	ENST00000418948.1	37																																																																																						0.564	SEMA3B-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000346890.2	NM_001005914		7	132						7	132	---	---	---	---
GTF2E1	2960	broad.mit.edu	37	3	120469723	120469724	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr3:120469723_120469724delCC	ENST00000283875.5	+	2	417_418	c.324_325delCC	c.(322-327)gaccacfs	p.DH108fs		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	108					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		ATAAACTGGACCACATGAGAAG	0.421																																						ENST00000283875.5																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22						c.(322-327)gaacfs		general transcription factor IIE, polypeptide 1, alpha 56kDa																																				SO:0001589	frameshift_variant	2960				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	g.chr3:120469723_120469724delCC	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.324_325delCC	3.37:g.120469723_120469724delCC	ENSP00000283875:p.Asp108fs		Somatic					p.DH108fs	NM_005513.2	NP_005504.2	WXS	Illumina GAIIx	Phase_I	P29083	T2EA_HUMAN		GBM - Glioblastoma multiforme(114;0.159)	2	417_418	+			108					Q16103	Frame_Shift_Del	DEL	ENST00000283875.5	37	c.324_325delCC	CCDS3002.1																																																																																				0.421	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513		8	225						8	225	---	---	---	---
ATR	545	broad.mit.edu	37	3	142168328	142168328	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr3:142168328delT	ENST00000350721.4	-	47	7999	c.7878delA	c.(7876-7878)gaafs	p.E2626fs	XRN1_ENST00000544157.1_5'Flank|XRN1_ENST00000463916.1_5'Flank|XRN1_ENST00000264951.4_5'Flank|XRN1_ENST00000465074.1_5'Flank|ATR_ENST00000383101.3_Frame_Shift_Del_p.E2562fs|XRN1_ENST00000392981.2_5'Flank	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2626	FATC. {ECO:0000255|PROSITE- ProRule:PRU00534, ECO:0000255|PROSITE- ProRule:PRU00535}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CATCAGTAGCTTCCTGTATAA	0.348								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(7876-7878)gafs	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							121.0	117.0	118.0					3																	142168328		2203	4300	6503	SO:0001589	frameshift_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142168328delT	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7878delA	3.37:g.142168328delT	ENSP00000343741:p.Glu2626fs		Somatic				ATR_ENST00000383101.3_Frame_Shift_Del_p.E2562fs	p.E2626fs	NM_001184.3	NP_001175.2	WXS	Illumina GAIIx	Phase_I	Q13535	ATR_HUMAN			47	7999	-			2626			FATC.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Frame_Shift_Del	DEL	ENST00000350721.4	37	c.7878delA	CCDS3124.1																																																																																				0.348	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		40	87						40	87	---	---	---	---
CRIPAK	285464	broad.mit.edu	37	4	1389382	1389382	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr4:1389382delC	ENST00000324803.4	+	1	4043	c.1083delC	c.(1081-1083)tgcfs	p.C361fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	361					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)			ATGTGGAGTGCCCGCCTGCTC	0.667																																						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.(1081-1083)tgfs		cysteine-rich PAK1 inhibitor							171.0	174.0	173.0					4																	1389382		2203	4299	6502	SO:0001589	frameshift_variant	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.chr4:1389382delC	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.1083delC	4.37:g.1389382delC	ENSP00000323978:p.Cys361fs		Somatic					p.C361fs	NM_175918.3	NP_787114.2	WXS	Illumina GAIIx	Phase_I	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	4043	+			361					Q8NB03	Frame_Shift_Del	DEL	ENST00000324803.4	37	c.1083delC	CCDS3349.1																																																																																				0.667	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		10	251						10	251	---	---	---	---
PHF10	55274	broad.mit.edu	37	6	170114904	170114904	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr6:170114904delA	ENST00000339209.4	-	7	851	c.728delT	c.(727-729)ttgfs	p.L243fs	PHF10_ENST00000366780.4_Frame_Shift_Del_p.L241fs|PHF10_ENST00000464779.1_5'Flank	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	243	SAY.				nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	npBAF complex (GO:0071564)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		CTCTGTTGGCAAAACTTTGTA	0.403																																						ENST00000339209.4																			0				endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14						c.(727-729)tgfs		PHD finger protein 10							170.0	160.0	163.0					6																	170114904		2203	4300	6503	SO:0001589	frameshift_variant	55274				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding	g.chr6:170114904delA	AF338735	CCDS5308.2, CCDS5309.2	6q27	2014-05-13			ENSG00000130024	ENSG00000130024		"""Zinc fingers, PHD-type"""	18250	protein-coding gene	gene with protein product		613069				11827455	Standard	NM_018288		Approved	FLJ10975, XAP135, BAF45a	uc011egy.2	Q8WUB8	OTTHUMG00000016058	ENST00000339209.4:c.728delT	6.37:g.170114904delA	ENSP00000341805:p.Leu243fs		Somatic				PHF10_ENST00000366780.4_Frame_Shift_Del_p.L241fs	p.L243fs	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	WXS	Illumina GAIIx	Phase_I	Q8WUB8	PHF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)	7	851	-		Breast(66;5.08e-05)|Ovarian(120;0.208)	243			SAY.		Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Frame_Shift_Del	DEL	ENST00000339209.4	37	c.728delT	CCDS5308.2																																																																																				0.403	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	NM_018288		12	106						12	106	---	---	---	---
SVOPL	136306	broad.mit.edu	37	7	138312995	138312996	+	Frame_Shift_Ins	INS	-	-	C	rs562489887|rs79662895		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr7:138312995_138312996insC	ENST00000419765.3	-	10	1009_1010	c.976_977insG	c.(976-978)gacfs	p.D326fs	SVOPL_ENST00000288513.5_Frame_Shift_Ins_p.D174fs|SVOPL_ENST00000463557.1_5'Flank|SVOPL_ENST00000436657.1_Frame_Shift_Ins_p.D174fs|SVOPL_ENST00000421622.1_Frame_Shift_Ins_p.D206fs	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	326						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CTCCCCTGAGTCCCCCCCAGTC	0.554																																						ENST00000421622.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						c.(616-618)ctcfs		SVOP-like																																				SO:0001589	frameshift_variant	136306					integral to membrane	transmembrane transporter activity	g.chr7:138312995_138312996insC	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.977dupG	7.37:g.138313002_138313002dupC	ENSP00000405482:p.Asp326fs		Somatic				SVOPL_ENST00000288513.5_Frame_Shift_Ins_p.L174fs|SVOPL_ENST00000436657.1_Frame_Shift_Ins_p.L174fs|SVOPL_ENST00000419765.3_Frame_Shift_Ins_p.L326fs	p.L206fs			WXS	Illumina GAIIx	Phase_I	Q8N434	SVOPL_HUMAN			7	824_825	-			326						Frame_Shift_Ins	INS	ENST00000419765.3	37	c.616_617insG	CCDS47721.1																																																																																				0.554	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959		8	210						8	210	---	---	---	---
TRBV7-6	28592	broad.mit.edu	37	7	142139683	142139684	+	RNA	INS	-	-	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr7:142139683_142139684insA	ENST00000390374.3	-	0	94									T cell receptor beta variable 7-6																		cctacacacaGAAAAAAAAATG	0.49																																						ENST00000390374.3																			0																	13,3677		1,11,1833						-3.2	0.0			105	7,7891		2,3,3944	no	intergenic				3,14,5777	A1A1,A1R,RR		0.0886,0.3523,0.1726				20,11568						28592							g.chr7:142139683_142139684insA	L36092		7q34	2012-02-07			ENSG00000211727	ENSG00000211727		"""T cell receptors / TRB locus"""	12240	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV76, TCRBV6S3A1N1T, TCRBV7S6			OTTHUMG00000158882		7.37:g.142139692_142139692dupA			Somatic								WXS	Illumina GAIIx	Phase_I					0	94	-									RNA	INS	ENST00000390374.3	37																																																																																						0.490	TRBV7-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352490.2	NG_001333		8	165						8	165	---	---	---	---
PTK2B	2185	broad.mit.edu	37	8	27255133	27255147	+	In_Frame_Del	DEL	TAAAGTTGGGCACGT	TAAAGTTGGGCACGT	-	rs1045511	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr8:27255133_27255147delTAAAGTTGGGCACGT	ENST00000397501.1	+	7	840_854	c.32_46delTAAAGTTGGGCACGT	c.(31-48)gtaaagttgggcacgtta>gta	p.KLGTL12del	PTK2B_ENST00000346049.5_In_Frame_Del_p.KLGTL12del|PTK2B_ENST00000517339.1_In_Frame_Del_p.KLGTL12del|PTK2B_ENST00000420218.2_In_Frame_Del_p.KLGTL12del|PTK2B_ENST00000544172.1_In_Frame_Del_p.KLGTL12del|PTK2B_ENST00000338238.4_In_Frame_Del_p.KLGTL12del	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	12					activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	CTGAGTCGAGTAAAGTTGGGCACGTTACGCCGGCC	0.572																																						ENST00000397501.1																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(31-48)gta>g		protein tyrosine kinase 2 beta																																				SO:0001651	inframe_deletion	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27255133_27255147delTAAAGTTGGGCACGT	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.32_46delTAAAGTTGGGCACGT	8.37:g.27255133_27255147delTAAAGTTGGGCACGT	ENSP00000380638:p.Lys12_Leu16del		Somatic				PTK2B_ENST00000517339.1_In_Frame_Del_p.VKLGTL11del|PTK2B_ENST00000420218.2_In_Frame_Del_p.VKLGTL11del|PTK2B_ENST00000338238.4_In_Frame_Del_p.VKLGTL11del|PTK2B_ENST00000544172.1_In_Frame_Del_p.VKLGTL11del|PTK2B_ENST00000346049.5_In_Frame_Del_p.VKLGTL11del	p.VKLGTL11del	NM_173174.2	NP_775266.1	WXS	Illumina GAIIx	Phase_I	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	7	840_854	+		Ovarian(32;2.72e-05)	11					D3DST0|Q13475|Q14290|Q16709|Q6PID4	In_Frame_Del	DEL	ENST00000397501.1	37	c.32_46delTAAAGTTGGGCACGT	CCDS6057.1																																																																																				0.572	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		7	432						7	432	---	---	---	---
MAN1B1	11253	broad.mit.edu	37	9	139995547	139995548	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr9:139995547_139995548insG	ENST00000371589.4	+	7	1080_1081	c.1007_1008insG	c.(1006-1011)ctggggfs	p.LG336fs	MAN1B1_ENST00000474902.1_Frame_Shift_Ins_p.LG39fs	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	336					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		ATCCGCATCCTGGGGGGGCTCC	0.54																																						ENST00000371589.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14						c.(1006-1008)cggfs		mannosidase, alpha, class 1B, member 1																																				SO:0001589	frameshift_variant	11253				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr9:139995547_139995548insG	AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"""endoplasmic reticulum alpha-mannosidase 1"", ""alpha 1,2-mannosidase"", ""endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1"", ""ER alpha 1,2-mannosidase"", ""Man9GlcNAc2-specific processing alpha-mannosidase"""	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.1014dupG	9.37:g.139995554_139995554dupG	ENSP00000360645:p.Leu336fs		Somatic				MAN1B1_ENST00000474902.1_Frame_Shift_Ins_p.R39fs	p.R336fs	NM_016219.4	NP_057303.2	WXS	Illumina GAIIx	Phase_I	Q9UKM7	MA1B1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)	7	1080_1081	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	336					Q5VSG3|Q9BRS9|Q9Y5K7	Frame_Shift_Ins	INS	ENST00000371589.4	37	c.1007_1008insG	CCDS7029.1																																																																																				0.540	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2	NM_016219		10	260						10	260	---	---	---	---
SYT15	83849	broad.mit.edu	37	10	46967610	46967611	+	Frame_Shift_Ins	INS	-	-	C	rs201388422		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr10:46967610_46967611insC	ENST00000374321.4	-	4	532_533	c.466_467insG	c.(466-468)gaafs	p.E156fs	SYT15_ENST00000374325.3_Frame_Shift_Ins_p.E156fs|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374323.4_Frame_Shift_Ins_p.E209fs|SYT15_ENST00000503753.1_Frame_Shift_Ins_p.E156fs	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	156	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CTGCTCATATTCCACCGAGAAC	0.624																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374323.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(625-627)atafs		synaptotagmin XV																																				SO:0001589	frameshift_variant	83849					integral to membrane|plasma membrane		g.chr10:46967610_46967611insC	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.467dupG	10.37:g.46967612_46967612dupC	ENSP00000363441:p.Glu156fs		Somatic				SYT15_ENST00000374321.4_Frame_Shift_Ins_p.I156fs|SYT15_ENST00000374325.3_Frame_Shift_Ins_p.I156fs|SYT15_ENST00000503753.1_Frame_Shift_Ins_p.I156fs	p.I209fs			WXS	Illumina GAIIx	Phase_I	Q9BQS2	SYT15_HUMAN			3	1212_1213	-			156			C2 1.		A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Frame_Shift_Ins	INS	ENST00000374321.4	37	c.625_626insG	CCDS44376.1																																																																																				0.624	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		15	77						15	77	---	---	---	---
FRMPD2	143162	broad.mit.edu	37	10	49371420	49371420	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr10:49371420delC	ENST00000374201.3	-	28	4134	c.3832delG	c.(3832-3834)gatfs	p.D1278fs	FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000305531.3_Frame_Shift_Del_p.D1253fs|FRMPD2_ENST00000474573.1_Frame_Shift_Del_p.D230fs|FRMPD2_ENST00000407470.4_Frame_Shift_Del_p.D1246fs	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	1278					tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TGCCTCACATCCTTTTCCAAA	0.423																																						ENST00000374201.3																			0				NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66						c.(3832-3834)atfs		FERM and PDZ domain containing 2							1.0	1.0	1.0					10																	49371420		421	937	1358	SO:0001589	frameshift_variant	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49371420delC	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.3832delG	10.37:g.49371420delC	ENSP00000363317:p.Asp1278fs		Somatic				FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000305531.3_Frame_Shift_Del_p.D1253fs|FRMPD2_ENST00000407470.4_Frame_Shift_Del_p.D1246fs|FRMPD2_ENST00000474573.1_Frame_Shift_Del_p.D230fs	p.D1278fs	NM_001018071.3	NP_001018081.3	WXS	Illumina GAIIx	Phase_I	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	28	4134	-			1278					B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Frame_Shift_Del	DEL	ENST00000374201.3	37	c.3832delG	CCDS31195.1																																																																																				0.423	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		15	559						15	559	---	---	---	---
H2AFY2	55506	broad.mit.edu	37	10	71851664	71851665	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr10:71851664_71851665insG	ENST00000373255.4	+	4	695_696	c.431_432insG	c.(430-435)aaggggfs	p.KG144fs		NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	144	Lys-rich.				brain development (GO:0007420)|chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|transcription regulatory region DNA binding (GO:0044212)	p.K147fs*53(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						TCAGGCAAGAAGGGGGGGAAGA	0.594																																						ENST00000373255.4																			1	Deletion - Frameshift(1)	p.K147fs*53(1)	large_intestine(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						c.(430-432)aggfs		H2A histone family, member Y2				1,4261		0,1,2130						5.8	1.0			66	5,8247		0,5,4121	no	frameshift	H2AFY2	NM_018649.2		0,6,6251	A1A1,A1R,RR		0.0606,0.0235,0.0479				6,12508				SO:0001589	frameshift_variant	55506				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	g.chr10:71851664_71851665insG	AF336304	CCDS7296.1	10q22.1	2011-01-27			ENSG00000099284	ENSG00000099284		"""Histones / Replication-independent"""	14453	protein-coding gene	gene with protein product						11331621, 11262398	Standard	NM_018649		Approved	macroH2A2	uc001jqm.3	Q9P0M6	OTTHUMG00000018396	ENST00000373255.4:c.438dupG	10.37:g.71851671_71851671dupG	ENSP00000362352:p.Lys144fs		Somatic					p.R144fs	NM_018649.2	NP_061119.1	WXS	Illumina GAIIx	Phase_I	Q9P0M6	H2AW_HUMAN			4	695_696	+			144			Lys-rich.		Q5SQT2	Frame_Shift_Ins	INS	ENST00000373255.4	37	c.431_432insG	CCDS7296.1																																																																																				0.594	H2AFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048480.2	NM_018649		7	95						7	95	---	---	---	---
PCGF5	84333	broad.mit.edu	37	10	93011143	93011144	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr10:93011143_93011144delTA	ENST00000336126.5	+	6	652_653	c.420_421delTA	c.(418-423)gctatcfs	p.I141fs	PCGF5_ENST00000543648.1_Frame_Shift_Del_p.I141fs	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	141					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						CACAAATTGCTATCTGTCTAGA	0.337																																					Colon(178;732 2696 46441 50370)	ENST00000336126.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						c.(418-423)gctcfs		polycomb group ring finger 5																																				SO:0001589	frameshift_variant	84333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding	g.chr10:93011143_93011144delTA	AL832003	CCDS7413.1	10q23.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000180628	ENSG00000180628		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	28264	protein-coding gene	gene with protein product			"""ring finger protein (C3HC4 type) 159"""	RNF159		8076819	Standard	NM_001256549		Approved	MGC16202	uc001khh.4	Q86SE9	OTTHUMG00000018740	ENST00000336126.5:c.420_421delTA	10.37:g.93011143_93011144delTA	ENSP00000337500:p.Ile141fs		Somatic				PCGF5_ENST00000543648.1_Frame_Shift_Del_p.AI140fs	p.AI140fs	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	WXS	Illumina GAIIx	Phase_I	Q86SE9	PCGF5_HUMAN			6	652_653	+			140					B7Z892|D3DR33|Q6PK47|Q86TD0	Frame_Shift_Del	DEL	ENST00000336126.5	37	c.420_421delTA	CCDS7413.1																																																																																				0.337	PCGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049363.1	NM_032373		146	282						146	282	---	---	---	---
PAX2	5076	broad.mit.edu	37	10	102509528	102509529	+	Frame_Shift_Ins	INS	-	-	G	rs75462234|rs77453353		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr10:102509528_102509529insG	ENST00000428433.1	+	2	619_620	c.69_70insG	c.(70-72)gggfs	p.G24fs	PAX2_ENST00000553492.1_Intron|PAX2_ENST00000361791.3_Frame_Shift_Ins_p.G24fs|PAX2_ENST00000370296.2_Frame_Shift_Ins_p.G24fs|PAX2_ENST00000355243.3_Frame_Shift_Ins_p.G24fs|PAX2_ENST00000556085.1_Frame_Shift_Ins_p.G23fs	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	24	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.		G -> E (probable disease-associated mutation found in a patient with renal hypodysplasia). {ECO:0000269|PubMed:21380624}.		aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TGAACCAGCTCGGGGGGGTGTT	0.663																																						ENST00000370296.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(67-72)ctggggfs		paired box 2																																				SO:0001589	frameshift_variant	5076				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	g.chr10:102509528_102509529insG		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.76dupG	10.37:g.102509535_102509535dupG	ENSP00000396259:p.Gly24fs		Somatic				PAX2_ENST00000553492.1_Intron|PAX2_ENST00000361791.3_Frame_Shift_Ins_p.LG23fs|PAX2_ENST00000428433.1_Frame_Shift_Ins_p.LG23fs|PAX2_ENST00000556085.1_Frame_Shift_Ins_p.LG22fs|PAX2_ENST00000355243.3_Frame_Shift_Ins_p.LG23fs	p.LG23fs			WXS	Illumina GAIIx	Phase_I	Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	2	619_620	+		Colorectal(252;0.234)	23			Paired.		Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Frame_Shift_Ins	INS	ENST00000428433.1	37	c.69_70insG	CCDS53569.1																																																																																				0.663	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				9	84						9	84	---	---	---	---
TNKS1BP1	85456	broad.mit.edu	37	11	57077336	57077336	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr11:57077336delT	ENST00000532437.1	-	5	3160	c.2849delA	c.(2848-2850)cagfs	p.Q950fs	TNKS1BP1_ENST00000358252.3_Frame_Shift_Del_p.Q950fs|TNKS1BP1_ENST00000530920.1_5'UTR			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	950	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CCCAAACTCCTGTTCCTGTGG	0.592																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2848-2850)cgfs		tankyrase 1 binding protein 1, 182kDa							92.0	105.0	100.0					11																	57077336		2201	4296	6497	SO:0001589	frameshift_variant	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57077336delT	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.2849delA	11.37:g.57077336delT	ENSP00000437271:p.Gln950fs		Somatic				TNKS1BP1_ENST00000358252.3_Frame_Shift_Del_p.Q950fs|TNKS1BP1_ENST00000530920.1_5'UTR	p.Q950fs			WXS	Illumina GAIIx	Phase_I	Q9C0C2	TB182_HUMAN			5	3160	-		all_epithelial(135;0.21)	950			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Frame_Shift_Del	DEL	ENST00000532437.1	37	c.2849delA	CCDS7951.1																																																																																				0.592	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		91	181						91	181	---	---	---	---
TRAJ61	28694	broad.mit.edu	37	14	22944386	22944386	+	RNA	DEL	T	T	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr14:22944386delT	ENST00000390479.2	+	0	60				AE000661.37_ENST00000514473.2_RNA|AE000661.37_ENST00000556777.1_RNA|TRAJ59_ENST00000390480.2_RNA|TRAJ58_ENST00000390481.1_RNA					T cell receptor alpha joining 61 (non-functional)																		TTTGGCAGAATTTTTTTTTCT	0.343																																						ENST00000514473.2																			0																				23.0	26.0	25.0					14																	22944386		1789	4043	5832			101929735							g.chr14:22944386delT	M94081		14q11.2	2012-02-07	2008-09-12		ENSG00000211831	ENSG00000211831		"""T cell receptors / TRA locus"""	12094	other	T cell receptor gene			"""T cell receptor alpha joining 61"""			8188290	Standard	NG_001332		Approved				OTTHUMG00000170906		14.37:g.22944386delT			Somatic				AE000661.37_ENST00000556777.1_RNA				WXS	Illumina GAIIx	Phase_I					0	225	-									RNA	DEL	ENST00000390479.2	37																																																																																						0.343	TRAJ61-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	TR_J_gene	TR_J_gene	OTTHUMT00000410937.1	NG_001332		3	4						3	4	---	---	---	---
ZNF106	64397	broad.mit.edu	37	15	42742957	42742957	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	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		Somatic				ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	p.S482fs	NM_022473.1	NP_071918.1	WXS	Illumina GAIIx	Phase_I					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	454						7	454	---	---	---	---
PRSS36	146547	broad.mit.edu	37	16	31160516	31160517	+	Frame_Shift_Ins	INS	-	-	C	rs200432337|rs34099735		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr16:31160516_31160517insC	ENST00000268281.4	-	4	207_208	c.149_150insG	c.(148-150)ggcfs	p.G50fs	PRSS36_ENST00000418068.2_Frame_Shift_Ins_p.G50fs|PRSS36_ENST00000569305.1_Frame_Shift_Ins_p.G50fs	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	50	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GCGCGTTTGAGCCCCCCACGAT	0.703																																						ENST00000268281.4																			0				kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						c.(148-150)gtcfs		protease, serine, 36																																				SO:0001589	frameshift_variant	146547				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	g.chr16:31160516_31160517insC	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.150dupG	16.37:g.31160522_31160522dupC	ENSP00000268281:p.Gly50fs		Somatic				PRSS36_ENST00000569305.1_Frame_Shift_Ins_p.V50fs|PRSS36_ENST00000418068.2_Frame_Shift_Ins_p.V50fs	p.V50fs	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	WXS	Illumina GAIIx	Phase_I	Q5K4E3	POLS2_HUMAN			4	207_208	-			50			Peptidase S1 1.		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Frame_Shift_Ins	INS	ENST00000268281.4	37	c.149_150insG	CCDS32436.1																																																																																				0.703	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502		2	4						2	4	---	---	---	---
PRMT7	54496	broad.mit.edu	37	16	68386205	68386205	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr16:68386205delA	ENST00000339507.5	+	15	2298	c.1468delA	c.(1468-1470)aacfs	p.N490fs	PRMT7_ENST00000348497.4_Frame_Shift_Del_p.N342fs|PRMT7_ENST00000449359.3_Frame_Shift_Del_p.N440fs|PRMT7_ENST00000441236.1_Frame_Shift_Del_p.N440fs			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	490	SAM-dependent MTase PRMT-type 2. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		GCCGTGGCACAACCTCTACTT	0.647																																						ENST00000339507.5																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20						c.(1468-1470)acfs		protein arginine methyltransferase 7							100.0	82.0	88.0					16																	68386205		2198	4300	6498	SO:0001589	frameshift_variant	54496				cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr16:68386205delA	AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"""Protein arginine methyltransferases"""	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.1468delA	16.37:g.68386205delA	ENSP00000343103:p.Asn490fs		Somatic				PRMT7_ENST00000449359.3_Frame_Shift_Del_p.N440fs|PRMT7_ENST00000441236.1_Frame_Shift_Del_p.N440fs|PRMT7_ENST00000348497.4_Frame_Shift_Del_p.N342fs	p.N490fs			WXS	Illumina GAIIx	Phase_I	Q9NVM4	ANM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)	15	2298	+		Ovarian(137;0.192)	490					B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Frame_Shift_Del	DEL	ENST00000339507.5	37	c.1468delA	CCDS10866.1																																																																																				0.647	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3	NM_019023		125	214						125	214	---	---	---	---
ATP2A3	489	broad.mit.edu	37	17	3844781	3844782	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr17:3844781_3844782insG	ENST00000352011.3	-	13	1766_1767	c.1712_1713insC	c.(1711-1713)ccafs	p.P571fs	ATP2A3_ENST00000397035.3_Frame_Shift_Ins_p.P571fs|ATP2A3_ENST00000359983.3_Frame_Shift_Ins_p.P571fs|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397041.3_Frame_Shift_Ins_p.P571fs|ATP2A3_ENST00000309890.7_Frame_Shift_Ins_p.P571fs|ATP2A3_ENST00000397043.3_Frame_Shift_Ins_p.P571fs			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	571					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CCTCCTTCCTTGGGGGCGCGTC	0.649																																					GBM(32;29 774 15719 37967)	ENST00000309890.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1711-1713)cagfs		ATPase, Ca++ transporting, ubiquitous																																				SO:0001589	frameshift_variant	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3844781_3844782insG		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.1713dupC	17.37:g.3844786_3844786dupG	ENSP00000301387:p.Pro571fs		Somatic				ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397041.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000352011.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000397035.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000359983.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000397043.3_Frame_Shift_Ins_p.Q571fs	p.Q571fs	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	WXS	Illumina GAIIx	Phase_I	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	13	1862_1863	-			571					A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Frame_Shift_Ins	INS	ENST00000352011.3	37	c.1712_1713insC	CCDS11041.1																																																																																				0.649	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		7	475						7	475	---	---	---	---
MYOCD	93649	broad.mit.edu	37	17	12642605	12642606	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr17:12642605_12642606insC	ENST00000343344.4	+	7	677_678	c.677_678insC	c.(676-681)ggccccfs	p.GP226fs	MYOCD_ENST00000425538.1_Frame_Shift_Ins_p.GP226fs|AC005358.1_ENST00000609971.1_Frame_Shift_Ins_p.GP130fs|MYOCD_ENST00000395988.1_3'UTR			Q8IZQ8	MYCD_HUMAN	myocardin	226					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CAGGGGCTTGGCCCCCCCAGCA	0.584																																						ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(676-678)gccfs		myocardin																																				SO:0001589	frameshift_variant	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12642605_12642606insC	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.684dupC	17.37:g.12642612_12642612dupC	ENSP00000341835:p.Gly226fs		Somatic				MYOCD_ENST00000395988.1_Frame_Shift_Ins_p.A130fs|MYOCD_ENST00000343344.4_Frame_Shift_Ins_p.A226fs	p.A226fs	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	WXS	Illumina GAIIx	Phase_I	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	7	877_878	+			226					Q5UBU5|Q8N7Q1	Frame_Shift_Ins	INS	ENST00000343344.4	37	c.677_678insC	CCDS11163.1																																																																																				0.584	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		11	98						11	98	---	---	---	---
KANSL1	284058	broad.mit.edu	37	17	44127972	44127981	+	Frame_Shift_Del	DEL	GTGAATTTCG	GTGAATTTCG	-	rs371047711|rs587780998	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr17:44127972_44127981delGTGAATTTCG	ENST00000262419.6	-	7	2408_2417	c.1938_1947delCGAAATTCAC	c.(1936-1947)cccgaaattcacfs	p.PEIH646fs	KANSL1_ENST00000393476.3_Frame_Shift_Del_p.PEIH3fs|KANSL1_ENST00000432791.1_Frame_Shift_Del_p.PEIH646fs|KANSL1_ENST00000572904.1_Frame_Shift_Del_p.PEIH646fs|KANSL1_ENST00000574590.1_Frame_Shift_Del_p.PEIH646fs|KANSL1_ENST00000575318.1_Frame_Shift_Del_p.PEIH646fs	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	646					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GGGCTTCATAGTGAATTTCGGGAGGCATGG	0.495																																						ENST00000262419.6																			0											c.(1936-1947)ccfs		KAT8 regulatory NSL complex subunit 1																																				SO:0001589	frameshift_variant	284058					MLL1 complex	protein binding	g.chr17:44127972_44127981delGTGAATTTCG	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.1938_1947delCGAAATTCAC	17.37:g.44127972_44127981delGTGAATTTCG	ENSP00000262419:p.Pro646fs		Somatic				KANSL1_ENST00000432791.1_Frame_Shift_Del_p.PEIH646fs|KANSL1_ENST00000393476.3_Frame_Shift_Del_p.PEIH3fs|KANSL1_ENST00000575318.1_Frame_Shift_Del_p.PEIH646fs|KANSL1_ENST00000574590.1_Frame_Shift_Del_p.PEIH646fs|KANSL1_ENST00000572904.1_Frame_Shift_Del_p.PEIH646fs	p.PEIH646fs	NM_001193466.1	NP_001180395.1	WXS	Illumina GAIIx	Phase_I	Q7Z3B3	K1267_HUMAN			7	2408_2417	-			646					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Frame_Shift_Del	DEL	ENST00000262419.6	37	c.1938_1947delCGAAATTCAC	CCDS11503.1																																																																																				0.495	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		75	179						75	179	---	---	---	---
C19orf54	284325	broad.mit.edu	37	19	41250539	41250540	+	Frame_Shift_Ins	INS	-	-	G	rs145771686		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr19:41250539_41250540insG	ENST00000378313.2	-	3	560_561	c.441_442insC	c.(439-444)cccagtfs	p.S148fs	C19orf54_ENST00000598729.1_Frame_Shift_Ins_p.Q17fs|C19orf54_ENST00000339153.3_Frame_Shift_Ins_p.Q17fs|C19orf54_ENST00000598485.2_Frame_Shift_Ins_p.Q17fs|C19orf54_ENST00000594163.1_5'Flank|C19orf54_ENST00000470681.1_Frame_Shift_Ins_p.S10fs	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	148										breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGGACGCCACTGGGGGGCGACA	0.624																																						ENST00000378313.2																			0				breast(1)|lung(1)|urinary_tract(2)	4						c.(439-444)ccgtggfs		chromosome 19 open reading frame 54																																				SO:0001589	frameshift_variant	284325							g.chr19:41250539_41250540insG	AK123126	CCDS12564.2	19q13.2	2012-10-26			ENSG00000188493	ENSG00000188493			24758	protein-coding gene	gene with protein product							Standard	NM_198476		Approved	FLJ41131	uc002oou.1	Q5BKX5	OTTHUMG00000150174	ENST00000378313.2:c.442dupC	19.37:g.41250545_41250545dupG	ENSP00000367564:p.Ser148fs		Somatic				C19orf54_ENST00000470681.1_Frame_Shift_Ins_p.W10fs|C19orf54_ENST00000339153.3_Frame_Shift_Ins_p.V17fs|C19orf54_ENST00000598485.2_Frame_Shift_Ins_p.V17fs|C19orf54_ENST00000598729.1_Frame_Shift_Ins_p.V17fs	p.W148fs	NM_198476.3	NP_940878.3	WXS	Illumina GAIIx	Phase_I	Q5BKX5	CS054_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		3	560_561	-			148					A8MSZ5|B4DNU7	Frame_Shift_Ins	INS	ENST00000378313.2	37	c.441_442insC	CCDS12564.2																																																																																				0.624	C19orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316701.1	NM_198476		7	128						7	128	---	---	---	---
RSPH6A	81492	broad.mit.edu	37	19	46299147	46299149	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr19:46299147_46299149delCCT	ENST00000221538.3	-	6	2274_2276	c.2132_2134delAGG	c.(2131-2136)gagggc>ggc	p.E711del	RSPH6A_ENST00000600188.1_In_Frame_Del_p.E447del|RSPH6A_ENST00000597055.1_3'UTR	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	711	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GTctcctcgccctcctcctcctc	0.557																																						ENST00000221538.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(2131-2136)ggc>g		radial spoke head 6 homolog A (Chlamydomonas)																																				SO:0001651	inframe_deletion	81492					intracellular		g.chr19:46299147_46299149delCCT	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.2132_2134delAGG	19.37:g.46299156_46299158delCCT	ENSP00000221538:p.Glu711del		Somatic				RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG447del|RSPH6A_ENST00000597055.1_3'UTR	p.EG711del	NM_030785.3	NP_110412.1	WXS	Illumina GAIIx	Phase_I	Q9H0K4	RSH6A_HUMAN			6	2274_2276	-			711			Glu-rich.		Q53FE2|Q6PEZ9	In_Frame_Del	DEL	ENST00000221538.3	37	c.2132_2134delAGG	CCDS12675.1																																																																																				0.557	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			7	224						7	224	---	---	---	---
SLC13A3	64849	broad.mit.edu	37	20	45194969	45194970	+	Frame_Shift_Ins	INS	-	-	G	rs149123701	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr20:45194969_45194970insG	ENST00000279027.4	-	11	1410_1411	c.1392_1393insC	c.(1390-1395)cccgccfs	p.A465fs	SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.A415fs|SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.A418fs|SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.A383fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.A418fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.A50fs|SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.A383fs	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	465					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)	p.P464P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ACAGCCAGGGCGGGGGGCACAT	0.604																																						ENST00000279027.4																			1	Substitution - coding silent(1)	p.P464P(1)	lung(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1390-1395)ccccctfs		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)																																			SO:0001589	frameshift_variant	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45194969_45194970insG	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1393dupC	20.37:g.45194975_45194975dupG	ENSP00000279027:p.Ala465fs		Somatic				SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.PP49fs|SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.PP414fs	p.PP464fs	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	WXS	Illumina GAIIx	Phase_I	Q8WWT9	S13A3_HUMAN			11	1410_1411	-		Myeloproliferative disorder(115;0.0122)	464					B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Frame_Shift_Ins	INS	ENST00000279027.4	37	c.1392_1393insC	CCDS13400.1																																																																																				0.604	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			7	581						7	581	---	---	---	---
DOPEY2	9980	broad.mit.edu	37	21	37597905	37597906	+	Frame_Shift_Ins	INS	-	-	C	rs374472573		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr21:37597905_37597906insC	ENST00000399151.3	+	12	1498_1499	c.1413_1414insC	c.(1414-1416)cccfs	p.P472fs		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	472					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCGTCAGCCCTCCCCCCACGGT	0.54																																						ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1411-1416)ccccccfs		dopey family member 2																																				SO:0001589	frameshift_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37597905_37597906insC	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.1419dupC	21.37:g.37597911_37597911dupC	ENSP00000382104:p.Pro472fs		Somatic					p.PP471fs	NM_005128.2	NP_005119.2	WXS	Illumina GAIIx	Phase_I	Q9Y3R5	DOP2_HUMAN			12	1498_1499	+			471					D3DSG5|Q6PJQ7|Q9UEZ3	Frame_Shift_Ins	INS	ENST00000399151.3	37	c.1413_1414insC	CCDS13643.1																																																																																				0.540	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		9	473						9	473	---	---	---	---
POLR3H	171568	broad.mit.edu	37	22	41926704	41926704	+	Frame_Shift_Del	DEL	G	G	-	rs372733493		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr22:41926704delG	ENST00000355209.4	-	5	891	c.548delC	c.(547-549)ccgfs	p.P183fs	POLR3H_ENST00000407461.1_Frame_Shift_Del_p.P183fs|POLR3H_ENST00000337566.5_Frame_Shift_Del_p.P154fs|POLR3H_ENST00000396504.2_Frame_Shift_Del_p.P183fs|POLR3H_ENST00000420561.1_5'Flank	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	183					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|nucleobase-containing compound metabolic process (GO:0006139)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						AAGCGTGTACGGAGCCTCCTT	0.622																																						ENST00000355209.4																			0				breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						c.(547-549)cgfs		polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)							70.0	63.0	65.0					22																	41926704		2203	4300	6503	SO:0001589	frameshift_variant	171568				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr22:41926704delG	AB051452	CCDS14018.1, CCDS33651.1	22q13	2013-01-21			ENSG00000100413	ENSG00000100413		"""RNA polymerase subunits"""	30349	protein-coding gene	gene with protein product						11258795, 12391170	Standard	XR_244356		Approved	RPC8, KIAA1665	uc003baf.3	Q9Y535	OTTHUMG00000150971	ENST00000355209.4:c.548delC	22.37:g.41926704delG	ENSP00000347345:p.Pro183fs		Somatic				POLR3H_ENST00000337566.5_Frame_Shift_Del_p.P154fs|POLR3H_ENST00000396504.2_Frame_Shift_Del_p.P183fs|POLR3H_ENST00000407461.1_Frame_Shift_Del_p.P183fs	p.P183fs	NM_001018050.2	NP_001018060.1	WXS	Illumina GAIIx	Phase_I	Q9Y535	RPC8_HUMAN			5	891	-			183					B0QYH9|Q5M7Y8|Q96AE3|Q9BY95	Frame_Shift_Del	DEL	ENST00000355209.4	37	c.548delC	CCDS14018.1																																																																																				0.622	POLR3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320701.1	NM_138338		21	35						21	35	---	---	---	---
