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	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_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	ACHILLES_Lineage_Results_Top_Genes	CGC_CancerGermlineMut	CGC_CancerMolecularGenetics	CGC_CancerSomaticMut	CGC_CancerSyndrome	CGC_Chr	CGC_ChrBand	CGC_GeneID	CGC_Name	CGC_OtherGermlineMut	CGC_TissueType	COSMIC_n_overlapping_mutations	COSMIC_overlapping_mutation_descriptions	ClinVar_ASSEMBLY	ClinVar_HGMD_ID	ClinVar_SYM	ClinVar_TYPE	ClinVar_rs	Ensembl_so_accession	Ensembl_so_term	Familial_Cancer_Genes_Reference	Familial_Cancer_Genes_Synonym	annotation_transcript	bcgsc	broad	build	ccds_id	dbNSFP_1000Gp1_AC	dbNSFP_1000Gp1_AF	dbNSFP_1000Gp1_AFR_AC	dbNSFP_1000Gp1_AFR_AF	dbNSFP_1000Gp1_AMR_AC	dbNSFP_1000Gp1_AMR_AF	dbNSFP_1000Gp1_ASN_AC	dbNSFP_1000Gp1_ASN_AF	dbNSFP_1000Gp1_EUR_AC	dbNSFP_1000Gp1_EUR_AF	dbNSFP_Ancestral_allele	dbNSFP_CADD_phred	dbNSFP_CADD_raw	dbNSFP_CADD_raw_rankscore	dbNSFP_ESP6500_AA_AF	dbNSFP_ESP6500_EA_AF	dbNSFP_Ensembl_geneid	dbNSFP_Ensembl_transcriptid	dbNSFP_FATHMM_pred	dbNSFP_FATHMM_rankscore	dbNSFP_FATHMM_score	dbNSFP_GERP_NR	dbNSFP_GERP_RS	dbNSFP_GERP_RS_rankscore	dbNSFP_Interpro_domain	dbNSFP_LRT_Omega	dbNSFP_LRT_converted_rankscore	dbNSFP_LRT_pred	dbNSFP_LRT_score	dbNSFP_LR_pred	dbNSFP_LR_rankscore	dbNSFP_LR_score	dbNSFP_MutationAssessor_pred	dbNSFP_MutationAssessor_rankscore	dbNSFP_MutationAssessor_score	dbNSFP_MutationTaster_converted_rankscore	dbNSFP_MutationTaster_pred	dbNSFP_MutationTaster_score	dbNSFP_Polyphen2_HDIV_pred	dbNSFP_Polyphen2_HDIV_rankscore	dbNSFP_Polyphen2_HDIV_score	dbNSFP_Polyphen2_HVAR_pred	dbNSFP_Polyphen2_HVAR_rankscore	dbNSFP_Polyphen2_HVAR_score	dbNSFP_RadialSVM_pred	dbNSFP_RadialSVM_rankscore	dbNSFP_RadialSVM_score	dbNSFP_Reliability_index	dbNSFP_SIFT_converted_rankscore	dbNSFP_SIFT_pred	dbNSFP_SIFT_score	dbNSFP_SLR_test_statistic	dbNSFP_SiPhy_29way_logOdds	dbNSFP_SiPhy_29way_logOdds_rankscore	dbNSFP_SiPhy_29way_pi	dbNSFP_UniSNP_ids	dbNSFP_Uniprot_aapos	dbNSFP_Uniprot_acc	dbNSFP_Uniprot_id	dbNSFP_aaalt	dbNSFP_aapos	dbNSFP_aapos_FATHMM	dbNSFP_aapos_SIFT	dbNSFP_aaref	dbNSFP_cds_strand	dbNSFP_codonpos	dbNSFP_folddegenerate	dbNSFP_genename	dbNSFP_hg18_pos1coor	dbNSFP_phastCons100way_vertebrate	dbNSFP_phastCons100way_vertebrate_rankscore	dbNSFP_phastCons46way_placental	dbNSFP_phastCons46way_placental_rankscore	dbNSFP_phastCons46way_primate	dbNSFP_phastCons46way_primate_rankscore	dbNSFP_phyloP100way_vertebrate	dbNSFP_phyloP100way_vertebrate_rankscore	dbNSFP_phyloP46way_placental	dbNSFP_phyloP46way_placental_rankscore	dbNSFP_phyloP46way_primate	dbNSFP_phyloP46way_primate_rankscore	dbNSFP_refcodon	entrez_gene_id	external_id_capture	gencode_transcript_name	gencode_transcript_status	gencode_transcript_tags	gencode_transcript_type	gene_type	havana_transcript	hgsc	igv_bad	ucsc	t_alt_count	t_ref_count	n_alt_count	n_ref_count	validation_judgement_rna	validation_power_rna	validation_tumor_alt_count_rna	validation_tumor_ref_count_rna	validation_normal_alt_count_rna	validation_normal_ref_count_rna	min_val_count_rna	validation_judgement_targeted	validation_power_targeted	validation_tumor_alt_count_targeted	validation_tumor_ref_count_targeted	validation_normal_alt_count_targeted	validation_normal_ref_count_targeted	min_val_count_targeted	validation_judgement_localAssembly	validation_power_localAssembly	t_alt_count_localAssembly	t_ref_count_localAssembly	n_alt_count_localAssembly	n_ref_count_localAssembly	min_val_count_localAssembly	validation_judgement_KRAS	validation_power_KRAS	t_alt_count_KRAS	t_ref_count_KRAS	n_alt_count_KRAS	n_ref_count_KRAS	min_val_count_KRAS	pon_loglike	pon_pass_loglike	localAssembly_detected	ExAC_AN	ExAC_AC	ExAC_LQ	passExAC	SCNA_NA	SCNA_NB	SCNA_q_hat	SCNA_tau	IS_SCNA	purity	ploidy	dna_fraction_in_tumor	CCF_hat	CCF_CI95_low	CCF_CI95_high	CCF_mode	CCF_mean	CCF_median	clonal	CCF_CI_low	CCF_CI_high
DNM1L	10059	broad.mit.edu	37	12	32861115	32861117	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08			AAG	-	AAG	AAG		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:32861115_32861117delAAG	ENST00000549701.1	+	4	400_402	c.326_328delAAG	c.(325-330)caagaa>caa	p.E110del	Y_RNA_ENST00000364693.1_RNA|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000547312.1_In_Frame_Del_p.E110del|DNM1L_ENST00000358214.5_In_Frame_Del_p.E123del|DNM1L_ENST00000381000.4_In_Frame_Del_p.E123del|DNM1L_ENST00000266481.6_In_Frame_Del_p.E110del|DNM1L_ENST00000553257.1_In_Frame_Del_p.E123del|DNM1L_ENST00000452533.2_In_Frame_Del_p.E110del|DNM1L_ENST00000548671.1_3'UTR			O00429	DNM1L_HUMAN	dynamin 1-like			23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				GAAATTCGACAAGAAATTGAAAA	0.291000																								0							SO:0001651	inframe_deletion			ENST00000549701.1	1	1	hg19	CCDS8729.1																																																																																				TCGA-2J-AAB6-01A-11D-A40W-08	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	1	0	0	65	170	0	75	1	9.997524e-01	13	23	0	75	2	0	0	0	0	0	0		1	1.000000	70	176	0	75	2								-20.000000	1	1	0	0		1	0	2	2	1.944943	1	0.540000	2.400000	0.540000	0.990000	8.100000e-01	1.000000	1.000000	0.969769	0.990000	1	9.100000e-01	1
C5	727	broad.mit.edu	37	9	123785771	123785772	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr9:123785771_123785772insT	ENST00000223642.1	-	10	1055_1056	c.1026_1027insA	c.(1024-1029)atacctfs	p.P343fs		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5			46				Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	TTGATGCCAGGTATTTCTGCCT	0.411000																								0							SO:0001589	frameshift_variant			ENST00000223642.1	0	1	hg19	CCDS6826.1																																																																																				TCGA-2J-AAB6-01A-11D-A40W-08	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	1	0	0	159	349	0	113	0	9.884502e-02	0	2	0	113	2	0	0	0	0	0	0		1	1.000000	161	345	0	108	2								-12.270970	1	1	0	0		1	0	2	2	1.772324	1	0.540000	2.400000	0.540000	0.990000	9.900000e-01	1.000000	1.000000	0.999589	0.990000	1	9.900000e-01	1
GPR26	2849	broad.mit.edu	37	10	125426411	125426411	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr10:125426411C>T	ENST00000284674.1	+	1	541	c.488C>T	c.(487-489)cCa>cTa	p.P163L		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26			20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)			AGCCGGCGGCCAGACGAGCGC	0.682000																								0							SO:0001583	missense			ENST00000284674.1	1	1	hg19	CCDS7636.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.472992	0.26423	.	.	ENSG00000154478	ENST00000284674	T	0.39229	1.09	4.02	3.02	0.34903	GPCR, rhodopsin-like superfamily (1);	0.137029	0.49916	D	0.000132	T	0.28632	0.0709	L	0.36672	1.1	0.51233	D	0.99991	B	0.09022	0.002	B	0.11329	0.006	T	0.07195	-1.0785	10	0.20046	T	0.44	-26.7238	8.7659	0.34702	0.1627:0.7461:0.0:0.0912	.	163	Q8NDV2	GPR26_HUMAN	L	163	ENSP00000284674:P163L	ENSP00000284674:P163L	P	+	2	0	GPR26	125416401	1.000000	0.71417	0.902000	0.35471	0.707000	0.40811	4.679000	0.61649	2.067000	0.61834	0.655000	0.94253	CCA		TCGA-2J-AAB6-01A-11D-A40W-08	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1	1	0	1	15	66	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	0.999910	15	64	0	35	2								-20.000000	1	1	0	0		1	1	2	3	1.835361	0	0.540000	2.400000	0.544915	0.700000	4.200000e-01	1.000000	1.000000	0.719057	0.700000	0	5.500000e-01	8.900000e-01
C10orf90	118611	broad.mit.edu	37	10	128147738	128147738	+	Missense_Mutation	SNP	G	G	A	rs139123090	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr10:128147738G>A	ENST00000284694.7	-	6	1888	c.1768C>T	c.(1768-1770)Cgg>Tgg	p.R590W	C10orf90_ENST00000544758.1_Missense_Mutation_p.R687W|C10orf90_ENST00000480379.1_De_novo_Start_OutOfFrame|C10orf90_ENST00000356858.3_Missense_Mutation_p.R543W|C10orf90_ENST00000454341.1_Missense_Mutation_p.R493W	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90			65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)			TTCTTCAGCCGTTCTTGTGAG	0.498000																								0							SO:0001583	missense			ENST00000284694.7	1	0	hg19	CCDS31310.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	G	17.42	3.384498	0.61845	6.81E-4	0.003837	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642	T;T;T;T	0.68025	-0.3;-0.04;-0.04;-0.0	5.01	4.09	0.47781	.	0.000000	0.40064	N	0.001191	T	0.72020	0.3409	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.77216	-0.2669	10	0.87932	D	0	-28.7011	10.2933	0.43610	0.0:0.0:0.6407:0.3593	.	687;590;493	F5GZL2;Q96M02;Q96M02-2	.;CJ090_HUMAN;.	W	543;590;493;687;590	ENSP00000284694:R590W;ENSP00000398786:R493W;ENSP00000444369:R687W;ENSP00000405995:R590W	ENSP00000284694:R590W	R	-	1	2	C10orf90	128137728	0.993000	0.37304	0.992000	0.48379	0.861000	0.49209	2.467000	0.45093	1.289000	0.44618	0.655000	0.94253	CGG		TCGA-2J-AAB6-01A-11D-A40W-08	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	1	109	283	0	102		0	0	0	0	102	2		0	0	0	0	0	2	1	1.000000	109	281	0	101	2								-2.248795	0	1	121412	400	59	1	1	2	3	1.835361	0	0.540000	2.400000	0.544915	0.990000	8.700000e-01	1.000000	1.000000	0.984163	0.990000	1	9.500000e-01	1
TCERG1L	256536	broad.mit.edu	37	10	133058648	133058648	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr10:133058648C>T	ENST00000368642.4	-	4	815	c.730G>A	c.(730-732)Gcc>Acc	p.A244T		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like			31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)			gcagcggcggcggcggtggcg	0.662000																								0							SO:0001583	missense			ENST00000368642.4	0	1	hg19	CCDS7662.2	.	.	.	.	.	.	.	.	.	.	C	9.872	1.199205	0.22121	.	.	ENSG00000176769	ENST00000368642	T	0.30448	1.53	4.78	2.6	0.31112	.	0.315243	0.26439	N	0.024363	T	0.14700	0.0355	N	0.19112	0.55	0.09310	N	1	B	0.25850	0.136	B	0.15052	0.012	T	0.10337	-1.0634	9	.	.	.	-6.2774	6.1164	0.20130	0.1907:0.6978:0.0:0.1115	.	244	Q5VWI1	TCRGL_HUMAN	T	244	ENSP00000357631:A244T	.	A	-	1	0	TCERG1L	132948638	0.050000	0.20438	0.652000	0.29579	0.039000	0.13416	0.093000	0.15086	2.189000	0.69895	0.655000	0.94253	GCC		TCGA-2J-AAB6-01A-11D-A40W-08	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	0	0	0	7	34	0	10	0	0	0	1	0	10	2		0	0	0	0	0	2	1	0.980647	7	32	0	9	2								-14.923980	1	1	120466	9	31	1	1	2	3	1.835361	0	0.540000	2.400000	0.544915	0.660000	3.100000e-01	1.000000	1.000000	0.682207	0.660000	0	4.600000e-01	9.200000e-01
ZNF365	22891	broad.mit.edu	37	10	64136259	64136259	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr10:64136259A>T	ENST00000395254.3	+	2	587	c.307A>T	c.(307-309)Agc>Tgc	p.S103C	ZNF365_ENST00000410046.3_Missense_Mutation_p.S103C|ZNF365_ENST00000395255.3_Missense_Mutation_p.S103C|ZNF365_ENST00000466727.1_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365			27	Prostate(12;0.0297)|all_hematologic(501;0.228)				TAACTTGTACAGCATTTCACA	0.498000																								0							SO:0001583	missense			ENST00000395254.3	1	1	hg19	CCDS31209.1	.	.	.	.	.	.	.	.	.	.	A	16.46	3.130161	0.56721	.	.	ENSG00000138311	ENST00000395254;ENST00000395255;ENST00000410046	T;T;T	0.35973	1.28;1.28;1.28	5.61	3.18	0.36537	.	0.272643	0.36740	N	0.002435	T	0.45418	0.1341	L	0.56769	1.78	0.24242	N	0.995357	D;D;D;D	0.76494	0.999;0.992;0.992;0.992	D;P;P;P	0.64595	0.927;0.794;0.724;0.794	T	0.33904	-0.9850	10	0.66056	D	0.02	-2.0655	2.9212	0.05770	0.536:0.2348:0.2292:0.0	.	103;103;103;118	Q70YC5-3;Q70YC5-2;Q70YC5;Q70YC5-4	.;.;ZN365_HUMAN;.	C	103	ENSP00000378674:S103C;ENSP00000378675:S103C;ENSP00000387091:S103C	ENSP00000378674:S103C	S	+	1	0	ZNF365	63806265	0.838000	0.29461	0.979000	0.43373	0.724000	0.41520	2.696000	0.47052	2.138000	0.66242	0.454000	0.30748	AGC		TCGA-2J-AAB6-01A-11D-A40W-08	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	1	0	1	75	196	0	62	1	9.910017e-01	7	15	0	62	2		0	0	0	0	0	2	1	1.000000	75	196	0	62	2								-20.000000	1	1	121412	1	32	1	1	2	3	1.823038	0	0.540000	2.400000	0.542471	0.990000	8.300000e-01	1.000000	1.000000	0.974801	0.990000	1	9.200000e-01	1
GRIK4	2900	broad.mit.edu	37	11	120776148	120776148	+	Silent	SNP	C	C	T	rs144767530		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:120776148C>T	ENST00000527524.2	+	13	1709	c.1422C>T	c.(1420-1422)ggC>ggT	p.G474G	GRIK4_ENST00000438375.2_Silent_p.G474G	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	p.G474G(1)		69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)			GCGTGTACGGCGTTCCCGAGG	0.612000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000527524.2	1	1	hg19	CCDS8433.1																																																																																				TCGA-2J-AAB6-01A-11D-A40W-08	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	1	0	1	246	370	0	148		0	0	0	0	148	2		0	0	0	0	0	2	1	1.000000	244	363	0	146	2								-20.000000	1	1	121412	2	37	1	1	2	3	2.286670	1	0.540000	2.400000	0.637795	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ETS1	2113	broad.mit.edu	37	11	128391808	128391808	+	Splice_Site	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:128391808C>T	ENST00000319397.6	-	1	391	c.82G>A	c.(82-84)Gat>Aat	p.D28N	ETS1_ENST00000531611.1_Splice_Site_p.D28N|ETS1_ENST00000526145.2_Splice_Site_p.D28N|ETS1_ENST00000535549.1_Splice_Site_p.G28S|ETS1_ENST00000345075.4_Splice_Site_p.D28N|ETS1_ENST00000392668.4_Intron	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1			35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)			CGCCACTCACCCGGGGAGGGG	0.652000																								0							SO:0001630	splice_region_variant			ENST00000319397.6	1	0	hg19	CCDS8475.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.090046|5.090046	0.94149|0.94149	.|.	.|.	ENSG00000134954|ENSG00000134954	ENST00000345075;ENST00000531611;ENST00000319397;ENST00000526145|ENST00000535549	T;T;T;T|T	0.51817|0.17691	2.93;0.69;2.59;2.93|2.26	4.72|4.72	4.72|4.72	0.59763|0.59763	.|.	.|.	.|.	.|.	.|.	T|T	0.20333|0.20333	0.0489|0.0489	M|M	0.64404|0.64404	1.975|1.975	0.58432|0.58432	D|D	0.999999|0.999999	P;P|B	0.52316|0.17038	0.743;0.952|0.02	B;P|B	0.49140|0.18871	0.097;0.601|0.023	T|T	0.02901|0.02901	-1.1096|-1.1096	8|8	.|.	.|.	.|.	.|.	14.9724|14.9724	0.71243|0.71243	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	28;28|28	P14921;Q96AC5|F5GYX9	ETS1_HUMAN;.|.	N|S	28|28	ENSP00000340485:D28N;ENSP00000435666:D28N;ENSP00000324578:D28N;ENSP00000433500:D28N|ENSP00000441430:G28S	.|.	D|G	-|-	1|1	0|0	ETS1|ETS1	127897018|127897018	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.060000|4.060000	0.57477|0.57477	2.325000|2.325000	0.78763|0.78763	0.591000|0.591000	0.81541|0.81541	GAT|GGT		TCGA-2J-AAB6-01A-11D-A40W-08	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	1	0	0	134	200	0	66	1	9.999990e-01	3	32	0	66	2		0	0	0	0	0	2	1	1.000000	133	192	0	64	2								-19.603950	1	1	0	0		1	1	2	3	2.286670	1	0.540000	2.400000	0.637795	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR4S2	219431	broad.mit.edu	37	11	55418398	55418398	+	Missense_Mutation	SNP	G	G	A	rs145635951	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:55418398G>A	ENST00000312422.2	+	1	19	c.19G>A	c.(19-21)Gta>Ata	p.V7I		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2			45		all_epithelial(135;0.0748)			AATAAACAACGTAACTGAATT	0.313000																								0							SO:0001583	missense			ENST00000312422.2	1	0	hg19	CCDS31505.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	7.327	0.618153	0.14129	4.6E-4	0.003123	ENSG00000174982	ENST00000312422	T	0.00672	5.89	5.05	1.02	0.19986	.	0.141107	0.32015	N	0.006710	T	0.00754	0.0025	L	0.45228	1.405	0.09310	N	1	B	0.28850	0.225	B	0.16722	0.016	T	0.49234	-0.8961	10	0.48119	T	0.1	.	7.0124	0.24869	0.513:0.0:0.487:0.0	.	7	Q8NH73	OR4S2_HUMAN	I	7	ENSP00000310337:V7I	ENSP00000310337:V7I	V	+	1	0	OR4S2	55174974	0.000000	0.05858	0.696000	0.30242	0.445000	0.32107	-0.700000	0.05081	0.530000	0.28619	0.448000	0.29417	GTA		TCGA-2J-AAB6-01A-11D-A40W-08	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	0	0	1	69	275	0	109		0	0	0	0	109	2		0	0	0	0	0	2	1	1.000000	66	271	0	109	2								-2.421942	0	1	112414	744	58	1	1	2	3	2.254921	1	0.540000	2.400000	0.633904	0.930000	7.400000e-01	1.000000	1.000000	0.925229	0.930000	1	8.300000e-01	1
MS4A1	931	broad.mit.edu	37	11	60235849	60235849	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:60235849C>T	ENST00000534668.1	+	7	1091	c.802C>T	c.(802-804)Caa>Taa	p.Q268*	MS4A1_ENST00000528313.1_Nonsense_Mutation_p.Q101*|MS4A1_ENST00000532073.1_Nonsense_Mutation_p.Q255*|MS4A1_ENST00000389939.2_Nonsense_Mutation_p.Q268*|MS4A1_ENST00000345732.4_Nonsense_Mutation_p.Q268*	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1			24				Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	TATTCCAATCCAAGAAGAGGA	0.373000																								0							SO:0001587	stop_gained			ENST00000534668.1	0	1	hg19	CCDS31570.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224347	0.95139	.	.	ENSG00000156738	ENST00000345732;ENST00000532073;ENST00000534668;ENST00000528313;ENST00000389939	.	.	.	5.32	3.34	0.38264	.	0.624912	0.17254	N	0.181052	.	.	.	.	.	.	0.51482	D	0.999925	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-22.9187	8.6631	0.34103	0.158:0.6261:0.2159:0.0	.	.	.	.	X	268;255;268;101;268	.	ENSP00000314620:Q268X	Q	+	1	0	MS4A1	59992425	0.973000	0.33851	0.913000	0.36048	0.966000	0.64601	2.113000	0.41902	0.651000	0.30788	0.655000	0.94253	CAA		TCGA-2J-AAB6-01A-11D-A40W-08	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1	1	0	1	53	199	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	1.000000	52	199	0	38	2								-3.813851	1	1	0	0		1	1	2	3	2.254921	1	0.540000	2.400000	0.633904	0.980000	7.500000e-01	1.000000	1.000000	0.947510	0.980000	1	8.600000e-01	1
PITPNM1	9600	broad.mit.edu	37	11	67262964	67262964	+	Silent	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:67262964G>A	ENST00000534749.1	-	15	2615	c.2427C>T	c.(2425-2427)gcC>gcT	p.A809A	PITPNM1_ENST00000356404.3_Silent_p.A809A|PITPNM1_ENST00000436757.2_Silent_p.A808A|PITPNM1_ENST00000526450.1_5'Flank			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1			18					GGGGGTCAGTGGCCAACTCAC	0.647000													GBM(28;144 709 4607 5525)											0							SO:0001819	synonymous_variant			ENST00000534749.1	0	1	hg19	CCDS31620.1																																																																																				TCGA-2J-AAB6-01A-11D-A40W-08	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	1	0	1	11	28	0	10	1	9.999995e-01	28	78	0	10	2		0	0	0	0	0	2	1	0.998360	8	27	0	9	2								-19.999710	1	1	0	0		1	1	2	3	2.286670	1	0.540000	2.400000	0.637795	0.990000	7.600000e-01	1.000000	1.000000	0.981546	0.990000	1	9.900000e-01	1
KSR2	283455	broad.mit.edu	37	12	117914339	117914339	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:117914339G>A	ENST00000339824.5	-	17	3239	c.2512C>T	c.(2512-2514)Cgc>Tgc	p.R838C	KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000425217.1_Missense_Mutation_p.R809C			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2			67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				GACAGCTGGCGGATGATCTCT	0.582000																								0							SO:0001583	missense			ENST00000339824.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	15.89	2.965842	0.53507	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	D;D	0.83419	-1.72;-1.72	5.69	4.81	0.61882	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.057415	0.64402	D	0.000001	D	0.85217	0.5646	M	0.89904	3.07	0.58432	D	0.999999	B	0.19935	0.04	B	0.19391	0.025	D	0.83736	0.0201	10	0.66056	D	0.02	.	10.7666	0.46297	0.1442:0.0:0.8558:0.0	.	838	Q6VAB6	KSR2_HUMAN	C	809;838	ENSP00000389715:R809C;ENSP00000339952:R838C	ENSP00000339952:R838C	R	-	1	0	KSR2	116398722	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	8.061000	0.89467	1.407000	0.46875	-0.142000	0.14014	CGC		TCGA-2J-AAB6-01A-11D-A40W-08	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	1	0	1	11	41	0	16		0	0	0	0	16	2		0	0	0	0	0	2	1	0.998946	11	41	0	16	2								-3.657225	1	1	121006	1	29	1	2	2	4	1.949391	0	0.540000	2.400000	0.574468	0.890000	4.800000e-01	1.000000	1.000000	0.854298	0.890000	1	6.600000e-01	1
PLEKHA5	54477	broad.mit.edu	37	12	19501393	19501393	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:19501393G>T	ENST00000299275.6	+	19	2467	c.2461G>T	c.(2461-2463)Gaa>Taa	p.E821*	PLEKHA5_ENST00000424268.1_Nonsense_Mutation_p.E810*|PLEKHA5_ENST00000429027.2_Nonsense_Mutation_p.E987*|PLEKHA5_ENST00000317589.4_Nonsense_Mutation_p.E884*|PLEKHA5_ENST00000543806.1_Nonsense_Mutation_p.E803*|PLEKHA5_ENST00000355397.3_Nonsense_Mutation_p.E879*|PLEKHA5_ENST00000539256.1_Nonsense_Mutation_p.E579*|PLEKHA5_ENST00000538714.1_Nonsense_Mutation_p.E879*|PLEKHA5_ENST00000359180.3_Intron	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5			35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)				AGAAGTTGATGAATCTAATGG	0.348000													Pancreas(196;329 2193 11246 14234 19524)											0							SO:0001587	stop_gained			ENST00000299275.6	0	1	hg19	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	G	42	9.521210	0.99193	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	.	.	.	5.09	5.09	0.68999	.	0.284028	0.37136	N	0.002230	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-19.7244	18.8652	0.92289	0.0:0.0:1.0:0.0	.	.	.	.	X	884;879;983;987;821;579;879;810;803;776	.	ENSP00000299275:E821X	E	+	1	0	PLEKHA5	19392660	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.173000	0.89680	2.489000	0.83994	0.563000	0.77884	GAA		TCGA-2J-AAB6-01A-11D-A40W-08	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	0	0	0	5	305	0	81	0	7.672791e-02	0	23	0	81	2		0	0	0	0	0	2	1	0.935342	4	301	0	81	2								-4.151663	1	1	0	0		1	1	3	4	2.006261	1	0.540000	2.400000	0.660867	0.100000	2.000000e-02	1.000000	0.070000	0.292132	0.100000	0	5.000000e-02	1
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-2J-AAB6-01A-11D-A40W-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	101	90	0	82	1	9.855492e-01	7	2	0	82	2	1	1	178	157	0	412	2	1	1.000000	101	90	0	81	2								-20.000000	1	1	0	0		1	0	4	4	2.493078	1	0.540000	2.400000	0.679978	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CAPRIN2	65981	broad.mit.edu	37	12	30873750	30873750	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:30873750G>C	ENST00000298892.5	-	12	2893	c.2143C>G	c.(2143-2145)Cct>Gct	p.P715A	CAPRIN2_ENST00000251071.5_Missense_Mutation_p.P715A|CAPRIN2_ENST00000395805.2_Intron|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.P715A|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.P382A	NM_023925.3	NP_076414.2			caprin family member 2			48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)				TTTACCTCAGGAGTCTCTGAG	0.373000																								0							SO:0001583	missense			ENST00000298892.5	0	1	hg19	CCDS8720.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900537	0.52227	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000537108	T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05	5.45	3.56	0.40772	.	0.402823	0.26041	N	0.026690	T	0.18087	0.0434	L	0.46157	1.445	0.37841	D	0.92906	B;B;B;B	0.24721	0.11;0.012;0.015;0.026	B;B;B;B	0.22152	0.028;0.027;0.016;0.038	T	0.06427	-1.0827	10	0.09338	T	0.73	-5.5419	14.5087	0.67769	0.0:0.42:0.58:0.0	.	715;715;715;715	Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;CAPR2_HUMAN;.;.	A	461;715;715;382;715;634	ENSP00000415407:P461A;ENSP00000298892:P715A;ENSP00000251071:P715A;ENSP00000309785:P382A;ENSP00000391479:P715A;ENSP00000438010:P634A	ENSP00000251071:P715A	P	-	1	0	CAPRIN2	30765017	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.051000	0.30417	0.619000	0.30197	-0.282000	0.10007	CCT		TCGA-2J-AAB6-01A-11D-A40W-08	CAPRIN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402778.1	0	0	0	7	313	0	105	0	1.713652e-02	1	7	0	105	2		0	0	0	0	0	2	1	0.980909	7	313	0	101	2								-2.931896	1	1	0	0		1	0	2	2	1.944943	1	0.540000	2.400000	0.540000	0.080000	3.000000e-02	0.160000	0.080000	0.091758	0.080000	0	5.000000e-02	1.200000e-01
PRMT8	56341	broad.mit.edu	37	12	3701463	3701463	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:3701463G>A	ENST00000382622.3	+	9	1436	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q	PRMT8_ENST00000452611.2_Missense_Mutation_p.R340Q|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	p.R349Q(1)		37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		CTCACTGTCCGGAGGGGGGAG	0.542000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000382622.3	0	1	hg19	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	G	15.73	2.920919	0.52653	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.76316	-1.01;-1.01	5.24	5.24	0.73138	.	0.045992	0.85682	D	0.000000	T	0.68035	0.2957	N	0.25647	0.755	0.43476	D	0.995693	B;B	0.18863	0.031;0.01	B;B	0.16722	0.016;0.007	T	0.63462	-0.6632	10	0.37606	T	0.19	.	16.3206	0.82950	0.0:0.0:1.0:0.0	.	340;349	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	Q	340;349	ENSP00000414507:R340Q;ENSP00000372067:R349Q	ENSP00000372067:R349Q	R	+	2	0	PRMT8	3571724	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.377000	0.52425	2.440000	0.82611	0.561000	0.74099	CGG		TCGA-2J-AAB6-01A-11D-A40W-08	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	0	0	0	5	491	0	157		0	0	0	0	157	2		0	0	0	0	0	2	1	0.934432	5	481	0	154	2								-2.030957	0	1	121412	8	45	1	0	2	2	1.955916	1	0.540000	2.400000	0.540000	0.030000	0	0.080000	0.040000	0.044247	0.030000	0	1.000000e-02	6.000000e-02
CENPJ	55835	broad.mit.edu	37	13	25466782	25466782	+	Splice_Site	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr13:25466782G>A	ENST00000381884.4	-	10	3400	c.3215C>T	c.(3214-3216)gCg>gTg	p.A1072V	CENPJ_ENST00000545981.1_Splice_Site_p.A1072V	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J			47		Lung SC(185;0.0225)|Breast(139;0.0602)			CCTGCCTACCGCAAGCTTGTC	0.522000																								0							SO:0001630	splice_region_variant			ENST00000381884.4	1	0	hg19	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	G	3.659	-0.070010	0.07228	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.34667	1.35;1.82	4.42	0.612	0.17591	.	1.551700	0.03144	N	0.167020	T	0.19208	0.0461	N	0.08118	0	0.09310	N	1	B;B	0.13594	0.008;0.005	B;B	0.11329	0.006;0.003	T	0.15122	-1.0448	10	0.31617	T	0.26	.	3.6362	0.08150	0.5195:0.0:0.3135:0.1669	.	153;1072	Q5T6R6;Q9HC77	.;CENPJ_HUMAN	V	1072	ENSP00000371308:A1072V;ENSP00000441090:A1072V	ENSP00000371308:A1072V	A	-	2	0	CENPJ	24364782	0.001000	0.12720	0.342000	0.25602	0.003000	0.03518	-0.331000	0.07914	0.206000	0.20587	-0.391000	0.06502	GCG		TCGA-2J-AAB6-01A-11D-A40W-08	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	1	0	1	91	410	0	80	0	4.446425e-01	0	8	0	80	2		0	0	0	0	0	2	1	1.000000	87	398	0	78	2								-20.000000	1	1	121412	1	34	1	2	2	4	2.750899	1	0.540000	2.400000	0.699189	0.990000	8.400000e-01	1.000000	1.000000	0.976214	0.990000	1	9.300000e-01	1
FRY	10129	broad.mit.edu	37	13	32776604	32776604	+	Missense_Mutation	SNP	G	G	A	rs138780336	by1000genomes	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr13:32776604G>A	ENST00000380250.3	+	31	4454	c.3958G>A	c.(3958-3960)Gcc>Acc	p.A1320T		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)			132		Lung SC(185;0.0271)			CGTGTCACTTGCCCTCTTGTC	0.493000																								0							SO:0001583	missense			ENST00000380250.3	1	0	hg19	CCDS41875.1	7	0.003205128205128205	0	0.0	0	0.0	0	0.0	7	0.009234828496042216	G	2.769	-0.256043	0.05829	7.5E-4	0.008886	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.22134	1.97	5.39	0.368	0.16146	.	0.470626	0.24400	N	0.038856	T	0.06234	0.0161	N	0.08118	0	0.19775	N	0.999957	B	0.10296	0.003	B	0.13407	0.009	T	0.27872	-1.0061	10	0.32370	T	0.25	.	7.9252	0.29870	0.2558:0.0:0.6374:0.1067	.	1320	Q5TBA9	FRY_HUMAN	T	1320;159	ENSP00000369600:A1320T	ENSP00000369600:A1320T	A	+	1	0	FRY	31674604	0.044000	0.20184	0.003000	0.11579	0.002000	0.02628	0.854000	0.27791	-0.182000	0.10602	-1.644000	0.00765	GCC		TCGA-2J-AAB6-01A-11D-A40W-08	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	0	0	1	79	374	0	86	0	8.248782e-02	0	3	0	86	2		0	0	0	0	0	2	1	1.000000	78	371	0	86	2								-2.742349	1	1	120918	1040	63	1	2	2	4	2.750899	1	0.540000	2.400000	0.699189	0.980000	7.900000e-01	1.000000	1.000000	0.957021	0.980000	1	8.800000e-01	1
CKAP2	26586	broad.mit.edu	37	13	53035900	53035900	+	Silent	SNP	A	A	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr13:53035900A>G	ENST00000378037.5	+	4	1032	c.942A>G	c.(940-942)ctA>ctG	p.L314L	CKAP2_ENST00000378034.3_Silent_p.L313L|CKAP2_ENST00000258607.5_Silent_p.L313L|CKAP2_ENST00000490903.1_Silent_p.L265L	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2			20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)			ATAAGACTCTATCAAGATCCA	0.388000																								0							SO:0001819	synonymous_variant			ENST00000378037.5	0	1	hg19	CCDS41893.1																																																																																				TCGA-2J-AAB6-01A-11D-A40W-08	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355010.2	0	0	0	8	598	0	112	0	1.033552e-01	0	35	0	112	2		0	0	0	0	0	2	1	0.989295	8	596	0	112	2								-6.558445	1	1	0	0		1	2	2	4	2.750899	1	0.540000	2.400000	0.699189	0.070000	1.000000e-02	0.160000	0.080000	0.093031	0.070000	0	4.000000e-02	1.200000e-01
PCDH9	5101	broad.mit.edu	37	13	66878849	66878849	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr13:66878849T>A	ENST00000377865.2	-	4	3786	c.3652A>T	c.(3652-3654)Aat>Tat	p.N1218Y	PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000328454.5_Missense_Mutation_p.N1184Y|PCDH9_ENST00000456367.1_Missense_Mutation_p.N1184Y|PCDH9_ENST00000544246.1_Missense_Mutation_p.N1218Y			Q9HC56	PCDH9_HUMAN	protocadherin 9			103		Hepatocellular(98;0.0906)|Breast(118;0.107)			GACTTCAGATTTGCCAGAGGA	0.438000																								0							SO:0001583	missense			ENST00000377865.2	1	1	hg19	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.852432	0.51270	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.55588	0.58;0.58;0.51;0.51	6.05	6.05	0.98169	.	0.000000	0.50627	D	0.000113	T	0.43389	0.1245	N	0.19112	0.55	0.41796	D	0.989894	B;B;B	0.23442	0.085;0.042;0.085	B;B;B	0.28139	0.064;0.086;0.064	T	0.36890	-0.9729	10	0.56958	D	0.05	.	16.5932	0.84781	0.0:0.0:0.0:1.0	.	1176;1184;1218	B7ZM79;Q9HC56-2;Q9HC56	.;.;PCDH9_HUMAN	Y	1218;1218;1184;1184	ENSP00000442186:N1218Y;ENSP00000367096:N1218Y;ENSP00000401699:N1184Y;ENSP00000332060:N1184Y	ENSP00000332060:N1184Y	N	-	1	0	PCDH9	65776850	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.698000	0.84413	2.320000	0.78422	0.528000	0.53228	AAT		TCGA-2J-AAB6-01A-11D-A40W-08	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	1	0	1	44	285	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1.000000	44	284	0	56	2								-20.000000	1	1	0	0		1	2	2	4	2.750899	1	0.540000	2.400000	0.699189	0.760000	5.600000e-01	1.000000	0.750000	0.770280	0.760000	0	6.500000e-01	8.800000e-01
SALL2	6297	broad.mit.edu	37	14	21991588	21991588	+	Silent	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:21991588C>T	ENST00000327430.3	-	2	2568	c.2274G>A	c.(2272-2274)ccG>ccA	p.P758P	AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Silent_p.P621P	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2			43	all_cancers(95;0.000662)				ACTCCTCTTCCGGTGATGGCT	0.577000																								0							SO:0001819	synonymous_variant			ENST00000327430.3	1	1	hg19	CCDS32045.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	5.549	0.286213	0.10513	0.0	1.16E-4	ENSG00000165821	ENST00000546363	.	.	.	4.76	-4.5	0.03493	.	.	.	.	.	T	0.30198	0.0757	.	.	.	0.33671	D	0.61096	.	.	.	.	.	.	T	0.38023	-0.9680	4	.	.	.	-4.7548	2.0412	0.03550	0.1233:0.2335:0.3794:0.2638	.	.	.	.	Q	617	.	.	R	-	2	0	SALL2	21061428	0.000000	0.05858	0.236000	0.24074	0.786000	0.44442	-1.953000	0.01526	-1.030000	0.03312	-1.264000	0.01445	CGG		TCGA-2J-AAB6-01A-11D-A40W-08	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	1	0	1	33	164	0	35	0	6.692840e-01	0	13	0	35	2		0	0	0	0	0	2	1	1.000000	33	161	0	34	2								-3.031295	1	1	121412	4	38	1	1	2	3	2.230265	1	0.540000	2.400000	0.637024	0.780000	5.600000e-01	1.000000	1.000000	0.795850	0.780000	0	6.700000e-01	9.200000e-01
DHRS2	10202	broad.mit.edu	37	14	24108419	24108419	+	Missense_Mutation	SNP	C	C	T	rs74036809		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:24108419C>T	ENST00000250383.6	+	3	648	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W	DHRS2_ENST00000553896.1_3'UTR|DHRS2_ENST00000344777.7_Missense_Mutation_p.R58W	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2			14					ACGTCTGGCCCGGGACGGGGC	0.642000																								0							SO:0001583	missense			ENST00000250383.6	1	1	hg19	CCDS9604.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	13.16	2.155684	0.38021	.	.	ENSG00000100867	ENST00000432832;ENST00000250383;ENST00000344777	T;T;T	0.45276	0.9;0.9;0.9	4.91	0.99	0.19807	NAD(P)-binding domain (1);	0.667396	0.15085	N	0.281419	T	0.52435	0.1734	M	0.78285	2.405	0.22591	N	0.998957	D;D;D;P	0.69078	0.991;0.978;0.997;0.875	P;P;P;B	0.56648	0.773;0.773;0.803;0.193	T	0.43782	-0.9370	10	0.87932	D	0	.	5.0764	0.14634	0.2895:0.5478:0.0:0.1626	.	36;58;58;36	Q13268;C9JZP6;D3DS54;Q13268-2	DHRS2_HUMAN;.;.;.	W	58	ENSP00000401213:R58W;ENSP00000250383:R58W;ENSP00000344674:R58W	ENSP00000250383:R58W	R	+	1	2	DHRS2	23178259	0.112000	0.22096	0.511000	0.27724	0.002000	0.02628	0.432000	0.21461	0.007000	0.14760	-0.350000	0.07774	CGG		TCGA-2J-AAB6-01A-11D-A40W-08	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2	1	0	1	157	583	0	170	0	9.685178e-01	0	23	0	170	2		0	0	0	0	0	2	1	1.000000	156	572	0	165	2								-3.145736	1	1	121412	1	36	1	1	2	3	2.214976	1	0.540000	2.400000	0.632324	0.980000	8.400000e-01	1.000000	1.000000	0.966183	0.980000	1	9.100000e-01	1
PRPF39	55015	broad.mit.edu	37	14	45578898	45578898	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:45578898T>C	ENST00000355765.6	+	8	1261	c.1091T>C	c.(1090-1092)aTt>aCt	p.I364T	SNORD127_ENST00000458892.1_RNA	NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39			12					GAATTTGAAATTGAAAATGGG	0.333000																								0							SO:0001583	missense			ENST00000355765.6	1	1	hg19	CCDS9682.2	.	.	.	.	.	.	.	.	.	.	T	15.07	2.725036	0.48833	2.27E-4	0.0	ENSG00000185246	ENST00000355765	T	0.34072	1.38	5.72	5.72	0.89469	.	0.099811	0.64402	D	0.000003	T	0.44222	0.1283	M	0.61703	1.905	0.80722	D	1	P	0.38129	0.619	P	0.46299	0.511	T	0.24870	-1.0148	10	0.14252	T	0.57	-0.4776	14.8233	0.70091	0.0:0.0:0.0:1.0	.	364	Q86UA1	PRP39_HUMAN	T	364	ENSP00000348010:I364T	ENSP00000348010:I364T	I	+	2	0	PRPF39	44648648	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.845000	0.86875	2.184000	0.69523	0.383000	0.25322	ATT		TCGA-2J-AAB6-01A-11D-A40W-08	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319683.2	1	0	1	13	67	0	18	1	9.632648e-01	12	20	0	18	2		0	0	0	0	0	2	1	0.999688	13	67	0	18	2								-19.999770	1	1	0	0		1	1	2	3	2.243838	1	0.540000	2.400000	0.633115	0.780000	4.400000e-01	1.000000	1.000000	0.782465	0.780000	0	5.900000e-01	1
PCNX	22990	broad.mit.edu	37	14	71500186	71500186	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:71500186T>G	ENST00000304743.2	+	17	4045	c.3599T>G	c.(3598-3600)aTt>aGt	p.I1200S	PCNX_ENST00000439984.3_Missense_Mutation_p.I1089S|PCNX_ENST00000238570.5_Missense_Mutation_p.I1200S	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)			87			KIRC - Kidney renal clear cell carcinoma(12;0.206)		CTTTTCTCCATTTTTTGTGGT	0.338000																								0							SO:0001583	missense			ENST00000304743.2	1	1	hg19	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.1|20.1	3.934512|3.934512	0.73442|0.73442	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000554691|ENST00000304743;ENST00000238570;ENST00000439984	.|T;T;T	.|0.11063	.|3.25;3.23;2.81	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.547984	.|0.21165	.|N	.|0.079081	T|T	0.14743|0.14743	0.0356|0.0356	L|L	0.43923|0.43923	1.385|1.385	0.25807|0.25807	N|N	0.984448|0.984448	.|B;B;B	.|0.21606	.|0.039;0.037;0.058	.|B;B;B	.|0.31191	.|0.125;0.053;0.085	T|T	0.13442|0.13442	-1.0509|-1.0509	5|10	.|0.87932	.|D	.|0	.|.	15.9971|15.9971	0.80260|0.80260	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1200;1089;1200	.|Q96RV3-3;B2RTR6;Q96RV3	.|.;.;PCX1_HUMAN	V|S	259|1200;1200;1089	.|ENSP00000304192:I1200S;ENSP00000238570:I1200S;ENSP00000396617:I1089S	.|ENSP00000238570:I1200S	F|I	+|+	1|2	0|0	PCNX|PCNX	70569939|70569939	1.000000|1.000000	0.71417|0.71417	0.286000|0.286000	0.24833|0.24833	0.995000|0.995000	0.86356|0.86356	7.436000|7.436000	0.80404|0.80404	2.186000|2.186000	0.69663|0.69663	0.528000|0.528000	0.53228|0.53228	TTT|ATT		TCGA-2J-AAB6-01A-11D-A40W-08	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	1	0	1	83	296	0	83	0	6.793613e-01	0	10	0	83	2		0	0	0	0	0	2	1	1.000000	82	294	0	83	2								-20.000000	1	1	0	0		1	1	2	3	2.243838	1	0.540000	2.400000	0.633115	0.990000	8.300000e-01	1.000000	1.000000	0.972186	0.990000	1	9.200000e-01	1
YLPM1	56252	broad.mit.edu	37	14	75248343	75248343	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:75248343A>G	ENST00000552421.1	+	4	1721	c.1597A>G	c.(1597-1599)Atg>Gtg	p.M533V	YLPM1_ENST00000325680.7_Missense_Mutation_p.M533V|YLPM1_ENST00000238571.3_Intron			P49750	YLPM1_HUMAN	YLP motif containing 1			62			KIRC - Kidney renal clear cell carcinoma(43;0.238)		TCTACCTACAATGCCCCCTCC	0.527000																								0							SO:0001583	missense			ENST00000552421.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	A	11.07	1.531914	0.27387	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000423680	.	.	.	5.84	4.67	0.58626	.	.	.	.	.	T	0.39572	0.1083	N	0.24115	0.695	0.80722	D	1	B	0.15930	0.015	B	0.14023	0.01	T	0.14282	-1.0478	8	0.12430	T	0.62	.	10.5131	0.44874	0.8549:0.0:0.0:0.1451	.	533	P49750-4	.	V	533;533;246	.	ENSP00000324463:M533V	M	+	1	0	YLPM1	74318096	0.874000	0.30092	1.000000	0.80357	0.994000	0.84299	1.654000	0.37334	1.006000	0.39211	0.482000	0.46254	ATG		TCGA-2J-AAB6-01A-11D-A40W-08	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	0	0	0	11	715	0	135	0	9.677420e-03	0	9	0	135	2		0	0	0	0	0	2	1	0.997973	11	689	0	130	2								-3.322154	1	1	121060	5	41	1	1	2	3	2.243838	1	0.540000	2.400000	0.633115	0.070000	3.000000e-02	1.000000	0.060000	0.119925	0.070000	0	4.000000e-02	1.100000e-01
PTPN21	11099	broad.mit.edu	37	14	88946299	88946299	+	Silent	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:88946299G>A	ENST00000556564.1	-	13	1760	c.1476C>T	c.(1474-1476)agC>agT	p.S492S	PTPN21_ENST00000328736.3_Silent_p.S492S	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21			45					TCTCGGGCTGGCTGTAGACCA	0.677000																								0							SO:0001819	synonymous_variant			ENST00000556564.1	0	1	hg19	CCDS9884.1																																																																																				TCGA-2J-AAB6-01A-11D-A40W-08	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1	0	0	0	5	268	0	55	0	1.628116e-03	0	3	0	55	2		0	0	0	0	0	2	1	0.934398	3	264	0	54	2								-6.152917	1	0	0	0		1	1	2	3	2.243838	1	0.540000	2.400000	0.633115	0.090000	2.000000e-02	1.000000	0.090000	0.143305	0.090000	0	5.000000e-02	1.500000e-01
OR4F6	390648	broad.mit.edu	37	15	102345944	102345944	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr15:102345944G>A	ENST00000328882.4	+	1	43	c.22G>A	c.(22-24)Gtg>Atg	p.V8M		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6			22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		CAATCACTCTGTGGTCTCTGA	0.473000																								0							SO:0001583	missense			ENST00000328882.4	1	1	hg19	CCDS32341.1	.	.	.	.	.	.	.	.	.	.	.	7.495	0.651526	0.14516	.	.	ENSG00000184140	ENST00000328882	T	0.20069	2.1	4.68	0.44	0.16572	.	0.780148	0.10877	N	0.624199	T	0.17365	0.0417	L	0.46670	1.46	0.24977	N	0.991629	B	0.25351	0.124	B	0.25405	0.06	T	0.26326	-1.0106	10	0.38643	T	0.18	.	6.7176	0.23312	0.4434:0.0:0.5566:0.0	.	8	Q8NGB9	OR4F6_HUMAN	M	8	ENSP00000327525:V8M	ENSP00000327525:V8M	V	+	1	0	OR4F6	100163467	0.000000	0.05858	0.314000	0.25224	0.168000	0.22595	0.041000	0.13927	-0.002000	0.14469	0.591000	0.81541	GTG		TCGA-2J-AAB6-01A-11D-A40W-08	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1	1	0	1	86	234	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	1.000000	85	229	0	86	2								-20.000000	1	1	0	0		1	0	0	0	1.785055	0	0.540000	2.400000	0.534978	0.970000	8.000000e-01	1.000000	1.000000	0.957006	0.970000	1	8.900000e-01	1
DUOXA2	405753	broad.mit.edu	37	15	45410081	45410081	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr15:45410081T>G	ENST00000323030.5	+	6	1222	c.937T>G	c.(937-939)Tta>Gta	p.L313V	DUOXA1_ENST00000559014.1_Intron|DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000430224.2_Intron|DUOXA1_ENST00000267803.4_Intron	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2					all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)			TCTCCCAGACTTAAAATGTAT	0.627000											OREG0023102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000323030.5	1	1	hg19	CCDS10118.2	.	.	.	.	.	.	.	.	.	.	T	12.13	1.847058	0.32606	.	.	ENSG00000140274	ENST00000323030	T	0.58060	0.36	4.74	0.676	0.17958	.	1.222260	0.05905	N	0.630659	T	0.29684	0.0741	N	0.08118	0	0.09310	N	0.999996	B	0.22800	0.075	B	0.19148	0.024	T	0.19976	-1.0289	10	0.34782	T	0.22	-0.0761	4.5387	0.12047	0.3478:0.0:0.18:0.4722	.	313	Q1HG44	DOXA2_HUMAN	V	313	ENSP00000319705:L313V	ENSP00000319705:L313V	L	+	1	2	DUOXA2	43197373	0.002000	0.14202	0.005000	0.12908	0.048000	0.14542	0.541000	0.23207	0.346000	0.23899	0.459000	0.35465	TTA		TCGA-2J-AAB6-01A-11D-A40W-08	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	1	0	1	119	280	0	125	1	9.963306e-01	2	21	0	125	2		0	0	0	0	0	2	1	1.000000	115	275	0	122	2								-20.000000	1	1	0	0		1	0	0	0	1.785055	0	0.540000	2.400000	0.534978	0.990000	9.200000e-01	1.000000	1.000000	0.994786	0.990000	1	9.900000e-01	1
PIF1	80119	broad.mit.edu	37	15	65116102	65116102	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr15:65116102G>A	ENST00000268043.4	-	2	527	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	PIF1_ENST00000333425.6_Missense_Mutation_p.R145C|PIF1_ENST00000559239.1_Missense_Mutation_p.R145C					PIF1 5'-to-3' DNA helicase			2					ACGAAGTCGCGGGGCCGCGGG	0.761000																								0							SO:0001583	missense			ENST00000268043.4	0	1	hg19	CCDS10195.2	.	.	.	.	.	.	.	.	.	.	G	14.41	2.528021	0.44969	.	.	ENSG00000140451	ENST00000268043;ENST00000333425	T;T	0.78364	-0.14;-1.17	4.47	4.47	0.54385	.	0.272984	0.35677	N	0.003051	T	0.80385	0.4613	M	0.61703	1.905	0.53688	D	0.999977	D;D	0.69078	0.968;0.997	B;P	0.49999	0.406;0.628	T	0.83148	-0.0105	10	0.59425	D	0.04	-11.2753	15.0059	0.71513	0.0:0.0:1.0:0.0	.	145;145	Q9H611-2;Q9H611	.;PIF1_HUMAN	C	145	ENSP00000268043:R145C;ENSP00000328174:R145C	ENSP00000268043:R145C	R	-	1	0	PIF1	62903155	1.000000	0.71417	0.996000	0.52242	0.071000	0.16799	4.455000	0.60075	2.188000	0.69820	0.313000	0.20887	CGC		TCGA-2J-AAB6-01A-11D-A40W-08	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256533.1	1	0	0	15	30	0	8	0	0	1	0	0	8	2		0	0	0	0	0	2	1	0.999941	15	28	0	8	2								-20.000000	1	1	0	0		1	0	0	0	1.785055	0	0.540000	2.400000	0.534978	0.990000	7.600000e-01	1.000000	1.000000	0.977838	0.990000	1	9.700000e-01	1
ZNF500	26048	broad.mit.edu	37	16	4803036	4803036	+	Missense_Mutation	SNP	C	C	T	rs142409847		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr16:4803036C>T	ENST00000219478.6	-	6	1083	c.784G>A	c.(784-786)Ggc>Agc	p.G262S	ZNF500_ENST00000545009.1_Missense_Mutation_p.G262S|ZNF500_ENST00000591026.1_5'UTR|RP11-127I20.7_ENST00000588099.1_RNA			O60304	ZN500_HUMAN	zinc finger protein 500			21					CCATCACCGCCGTCCTCCAAC	0.587000																								0							SO:0001583	missense			ENST00000219478.6	1	1	hg19	CCDS32383.1	.	.	.	.	.	.	.	.	.	.	C	9.305	1.054035	0.19907	0.0	1.16E-4	ENSG00000103199	ENST00000545009;ENST00000219478	T;T	0.06294	3.41;3.32	4.04	3.08	0.35506	Krueppel-associated box (1);	.	.	.	.	T	0.03305	0.0096	N	0.14661	0.345	0.09310	N	1	B;B	0.33755	0.424;0.27	B;B	0.17098	0.017;0.017	T	0.45629	-0.9248	9	0.23891	T	0.37	.	9.1061	0.36698	0.0:0.8891:0.0:0.1109	.	262;262	B4DNN9;O60304	.;ZN500_HUMAN	S	262	ENSP00000445714:G262S;ENSP00000219478:G262S	ENSP00000219478:G262S	G	-	1	0	ZNF500	4743037	0.001000	0.12720	0.048000	0.18961	0.011000	0.07611	1.284000	0.33249	0.694000	0.31654	0.655000	0.94253	GGC		TCGA-2J-AAB6-01A-11D-A40W-08	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432461.1	1	0	1	43	164	0	49	1	6.491619e-01	3	7	0	49	2		0	0	0	0	0	2	1	1.000000	41	158	0	47	2								-3.316967	1	1	120886	5	38	1	0	2	2	1.776729	1	0.540000	2.400000	0.540000	0.760000	5.700000e-01	0.970000	0.760000	0.775649	0.760000	0	6.600000e-01	8.800000e-01
HYDIN	54768	broad.mit.edu	37	16	70866926	70866926	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr16:70866926C>A	ENST00000393567.2	-	80	13874	c.13724G>T	c.(13723-13725)aGc>aTc	p.S4575I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein			43		Ovarian(137;0.0654)			TTCTTCTGGGCTAATGGAGAA	0.408000																								0							SO:0001583	missense			ENST00000393567.2	0	1	hg19	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244960	0.39697	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01092	5.35	4.62	-0.853	0.10709	.	0.182103	0.24965	U	0.034191	T	0.01835	0.0058	M	0.78801	2.425	0.09310	N	1	B	0.32862	0.387	B	0.34418	0.182	T	0.38436	-0.9661	10	0.34782	T	0.22	.	8.4169	0.32676	0.0:0.4301:0.424:0.1459	.	4574	F8WD23	.	I	4575;4574	ENSP00000377197:S4575I	ENSP00000313052:S4574I	S	-	2	0	HYDIN	69424427	0.000000	0.05858	0.991000	0.47740	0.958000	0.62258	-0.587000	0.05780	0.231000	0.21079	0.511000	0.50034	AGC		TCGA-2J-AAB6-01A-11D-A40W-08	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3	0	0	0	28	85	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	0.999999	15	61	0	52	2								-20.000000	1	1	0	0		1	0	2	2	1.807789	1	0.540000	2.400000	0.540000	0.910000	6.400000e-01	1.000000	1.000000	0.896391	0.910000	1	7.700000e-01	1
ADAD2	161931	broad.mit.edu	37	16	84228145	84228145	+	Silent	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr16:84228145G>A	ENST00000315906.5	+	2	568	c.516G>A	c.(514-516)gcG>gcA	p.A172A	RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000268624.3_Silent_p.A244A|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2			13					AGCAGGCAGCGCTCTCTGCCC	0.642000																								0							SO:0001819	synonymous_variant			ENST00000315906.5	0	1	hg19	CCDS45536.1	.	.	.	.	.	.	.	.	.	.	G	1.347	-0.592612	0.03799	.	.	ENSG00000250685	ENST00000536986	.	.	.	4.15	-8.3	0.01005	.	0.000000	0.51477	D	0.000099	T	0.12050	0.0293	.	.	.	0.23791	N	0.996838	P	0.37997	0.614	B	0.29785	0.107	T	0.04825	-1.0924	8	0.87932	D	0	-25.5618	1.4709	0.02415	0.2479:0.1681:0.4182:0.1658	.	73	Q6ZW55	.	V	59	.	ENSP00000444170:A59V	A	-	2	0	AC009123.1	82785646	0.000000	0.05858	0.003000	0.11579	0.170000	0.22686	-3.759000	0.00373	-2.298000	0.00660	-1.291000	0.01355	GCG		TCGA-2J-AAB6-01A-11D-A40W-08	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	1	0	0	37	32	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	1.000000	36	31	0	18	2								-20.000000	1	1	121292	20	39	1	0	2	2	1.807789	1	0.540000	2.400000	0.540000	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MRPL45	84311	broad.mit.edu	37	17	36478035	36478035	+	Silent	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr17:36478035C>T	ENST00000312513.5	+	7	848	c.687C>T	c.(685-687)ggC>ggT	p.G229G		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45			13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)			ACCGGTTTGGCCGGTTGATGT	0.438000																								0							SO:0001819	synonymous_variant			ENST00000312513.5	0	1	hg19	CCDS11326.1																																																																																				TCGA-2J-AAB6-01A-11D-A40W-08	MRPL45-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256792.3	0	0	0	5	420	0	139	0	1.423286e-01	0	46	0	139	2		0	0	0	0	0	2	1	0.932649	5	407	0	139	2								-1.932933	0	1	0	0		1	0	2	2	1.795413	1	0.540000	2.400000	0.540000	0.040000	0	0.100000	0.040000	0.051799	0.040000	0	2.000000e-02	7.000000e-02
STXBP4	252983	broad.mit.edu	37	17	53158469	53158469	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr17:53158469C>T	ENST00000376352.2	+	16	1621	c.1414C>T	c.(1414-1416)Cgt>Tgt	p.R472C	STXBP4_ENST00000434978.2_Missense_Mutation_p.R450C	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4			19					AAGGAATGGACGTAGCATCCC	0.398000																								0							SO:0001583	missense			ENST00000376352.2	1	1	hg19	CCDS11584.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.85	2.954687	0.53293	.	.	ENSG00000166263	ENST00000376352;ENST00000434978	T;T	0.48201	0.82;0.82	5.47	4.5	0.54988	.	0.308438	0.36234	N	0.002705	T	0.50069	0.1594	M	0.63428	1.95	0.80722	D	1	D;D	0.60160	0.973;0.987	B;P	0.45610	0.325;0.487	T	0.58312	-0.7658	10	0.87932	D	0	-5.9541	13.5669	0.61824	0.1561:0.8439:0.0:0.0	.	450;472	E7EPP7;Q6ZWJ1	.;STXB4_HUMAN	C	472;450	ENSP00000365530:R472C;ENSP00000391087:R450C	ENSP00000365530:R472C	R	+	1	0	STXBP4	50513468	0.902000	0.30710	0.162000	0.22713	0.460000	0.32559	2.902000	0.48703	1.513000	0.48852	0.650000	0.86243	CGT		TCGA-2J-AAB6-01A-11D-A40W-08	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	1	0	1	67	161	0	105	0	8.831169e-02	0	2	0	105	2		0	0	0	0	0	2	1	1.000000	65	161	0	105	2								-20.000000	1	1	121358	5	39	1	0	2	2	1.795413	1	0.540000	2.400000	0.540000	0.990000	8.700000e-01	1.000000	1.000000	0.987616	0.990000	1	9.700000e-01	1
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	1	1	hg19	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		TCGA-2J-AAB6-01A-11D-A40W-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	53	59	0	33	1	1	30	17	0	33	2	1	1	529	414	1	1036	6	1	1.000000	53	57	0	33	2								-20.000000	1	1	121412	3	34	1	0	2	2	1.797329	1	0.540000	2.400000	0.540000	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GUCY2D	3000	broad.mit.edu	37	17	7917216	7917216	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr17:7917216G>A	ENST00000254854.4	+	12	2432	c.2282G>A	c.(2281-2283)cGg>cAg	p.R761Q		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)			1		Prostate(122;0.157)			CAGAGGGTGCGGAGCCCCCCT	0.622000																								0							SO:0001583	missense			ENST00000254854.4	0	1	hg19	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109704	0.37242	.	.	ENSG00000132518	ENST00000254854	D	0.82619	-1.63	5.44	-5.28	0.02755	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.898770	0.09283	N	0.823427	T	0.71745	0.3376	L	0.48642	1.525	0.09310	N	1	B	0.19583	0.037	B	0.13407	0.009	T	0.58405	-0.7642	10	0.45353	T	0.12	.	5.9913	0.19465	0.447:0.0:0.3698:0.1832	.	761	Q02846	GUC2D_HUMAN	Q	761	ENSP00000254854:R761Q	ENSP00000254854:R761Q	R	+	2	0	GUCY2D	7857941	0.000000	0.05858	0.462000	0.27118	0.976000	0.68499	-0.284000	0.08422	-0.603000	0.05767	-0.345000	0.07892	CGG		TCGA-2J-AAB6-01A-11D-A40W-08	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2	0	0	0	6	371	0	100		0	0	0	0	100	2		0	0	0	0	0	2	1	0.963506	7	364	0	99	2								-2.876445	1	1	121412	2	35	1	0	2	2	1.797329	1	0.540000	2.400000	0.540000	0.060000	1.000000e-02	0.120000	0.060000	0.068255	0.060000	0	3.000000e-02	9.000000e-02
AQP4	361	broad.mit.edu	37	18	24436417	24436417	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr18:24436417C>T	ENST00000383168.4	-	5	858	c.730G>A	c.(730-732)Gct>Act	p.A244T	AQP4_ENST00000583022.1_5'UTR|AQP4_ENST00000440832.3_Missense_Mutation_p.A222T|AQP4_ENST00000581374.1_Missense_Mutation_p.A222T|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4			11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)				AGGCCACCAGCGAGGACAGCT	0.433000																								0							SO:0001583	missense			ENST00000383168.4	1	1	hg19	CCDS11889.1	.	.	.	.	.	.	.	.	.	.	C	35	5.463024	0.96257	0.0	2.33E-4	ENSG00000171885	ENST00000383168;ENST00000440832;ENST00000383170	D	0.96265	-3.96	5.84	5.84	0.93424	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.98220	0.9411	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	D	0.98652	1.0680	10	0.87932	D	0	.	20.1535	0.98095	0.0:1.0:0.0:0.0	.	244	P55087	AQP4_HUMAN	T	244;224;140	ENSP00000372654:A244T	ENSP00000372654:A244T	A	-	1	0	AQP4	22690415	1.000000	0.71417	0.966000	0.40874	0.958000	0.62258	7.263000	0.78421	2.764000	0.94973	0.650000	0.86243	GCT		TCGA-2J-AAB6-01A-11D-A40W-08	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	1	0	0	92	234	0	117		0	0	0	0	117	2		0	0	0	0	0	2	1	1.000000	90	232	0	117	2								-7.111425	1	1	121412	3	35	1	0	2	2	1.872823	1	0.540000	2.400000	0.540000	0.990000	8.600000e-01	1.000000	1.000000	0.982487	0.990000	1	9.500000e-01	1
CCDC105	126402	broad.mit.edu	37	19	15131402	15131402	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:15131402C>T	ENST00000292574.3	+	3	887	c.805C>T	c.(805-807)Cga>Tga	p.R269*		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105			23					GAACCTCTCCCGAGCCCCCAC	0.597000																								0							SO:0001587	stop_gained			ENST00000292574.3	0	1	hg19	CCDS12322.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528521	0.64860	0.0	1.16E-4	ENSG00000160994	ENST00000292574	.	.	.	4.09	-1.59	0.08453	.	0.492673	0.16678	N	0.204050	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9272	5.0347	0.14428	0.5189:0.3698:0.0:0.1113	.	.	.	.	X	269	.	ENSP00000292574:R269X	R	+	1	2	CCDC105	14992402	0.001000	0.12720	0.185000	0.23176	0.317000	0.28152	-0.171000	0.09883	-0.391000	0.07763	0.558000	0.71614	CGA		TCGA-2J-AAB6-01A-11D-A40W-08	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	1	0	1	36	108	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	1.000000	35	107	0	39	2								-4.277767	1	1	121412	7	40	1	0	0	0	1.760489	0	0.540000	2.400000	0.527235	0.890000	6.600000e-01	1.000000	1.000000	0.888945	0.890000	1	7.700000e-01	1
ZNF99	7652	broad.mit.edu	37	19	22940908	22940908	+	Silent	SNP	A	A	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:22940908A>G	ENST00000596209.1	-	4	1893	c.1803T>C	c.(1801-1803)gcT>gcC	p.A601A	ZNF99_ENST00000397104.3_Silent_p.A510A	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99			124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)			AGTGGTTAAAAGCTTTGCCAC	0.378000																								0							SO:0001819	synonymous_variant			ENST00000596209.1	1	1	hg19	CCDS59369.1																																																																																				TCGA-2J-AAB6-01A-11D-A40W-08	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	1	0	1	74	170	0	108		0	0	0	0	108	2		0	0	0	0	0	2	1	1.000000	73	161	0	122	2								-20.000000	1	1	0	0		1	0	0	0	1.760489	0	0.540000	2.400000	0.527235	0.990000	8.800000e-01	1.000000	1.000000	0.989848	0.990000	1	9.800000e-01	1
ZNF554	115196	broad.mit.edu	37	19	2834140	2834140	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:2834140C>T	ENST00000317243.5	+	5	1105	c.907C>T	c.(907-909)Cag>Tag	p.Q303*	ZNF554_ENST00000591265.1_3'UTR	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554			23		Hepatocellular(1079;0.137)			GGAAAATGGGCAGTCATTGAA	0.478000																								0							SO:0001587	stop_gained			ENST00000317243.5	0	1	hg19	CCDS42462.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673776	0.67928	.	.	ENSG00000172006	ENST00000317243	.	.	.	2.77	0.44	0.16572	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.99999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.9143	0.05748	0.5402:0.2836:0.1762:0.0	.	.	.	.	X	303	.	ENSP00000321132:Q303X	Q	+	1	0	ZNF554	2785140	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.558000	0.23469	-0.062000	0.13088	-0.505000	0.04504	CAG		TCGA-2J-AAB6-01A-11D-A40W-08	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	1	0	0	120	292	0	101	0	8.592049e-02	0	2	0	101	2		0	0	0	0	0	2	1	1.000000	118	289	0	101	2								-20.000000	1	1	0	0		1	0	0	0	1.760489	0	0.540000	2.400000	0.527235	0.990000	8.900000e-01	1.000000	1.000000	0.987359	0.990000	1	9.600000e-01	1
TYROBP	7305	broad.mit.edu	37	19	36399086	36399086	+	Silent	SNP	G	G	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:36399086G>T	ENST00000262629.4	-	1	111	c.45C>A	c.(43-45)ctC>ctA	p.L15L	TYROBP_ENST00000589517.1_Silent_p.L15L|TYROBP_ENST00000424586.3_Silent_p.L15L|TYROBP_ENST00000585901.2_Silent_p.L15L|TYROBP_ENST00000544690.2_Silent_p.L15L	NM_003332.3|NM_198125.2	NP_003323.1|NP_937758.1	O43914	TYOBP_HUMAN	TYRO protein tyrosine kinase binding protein			8	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)		CAGCCAGCAGGAGAGGCAGGA	0.657000																								0							SO:0001819	synonymous_variant			ENST00000262629.4	0	1	hg19	CCDS12482.1																																																																																				TCGA-2J-AAB6-01A-11D-A40W-08	TYROBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457397.1	0	0	0	7	182	0	23	0	9.966925e-01	0	289	0	23	2		0	0	0	0	0	2	1	0.977186	6	173	0	22	2								-9.607467	1	1	0	0		1	1	3	4	2.641795	1	0.540000	2.400000	0.691565	0.220000	9.000000e-02	1.000000	0.200000	0.286751	0.220000	0	1.400000e-01	3.400000e-01
ZNF585A	199704	broad.mit.edu	37	19	37644404	37644404	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:37644404C>T	ENST00000356958.4	-	5	655	c.397G>A	c.(397-399)Gcc>Acc	p.A133T	ZNF585A_ENST00000355533.2_Missense_Mutation_p.A78T|ZNF585A_ENST00000292841.5_Missense_Mutation_p.A78T|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.A78T			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A			42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		TCAAATTTGGCGCATTCATAA	0.383000																								0							SO:0001583	missense			ENST00000356958.4	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	9.121	1.009054	0.19199	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.35789	1.29;1.29;1.29;1.67	2.95	1.88	0.25563	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.224693	0.22663	U	0.057163	T	0.11067	0.0270	N	0.01742	-0.745	0.09310	N	1	B	0.26935	0.164	B	0.20577	0.03	T	0.23048	-1.0199	10	0.20046	T	0.44	.	5.5634	0.17157	0.2297:0.5464:0.2238:0.0	.	133	Q6P3V2	Z585A_HUMAN	T	133;78;78;78	ENSP00000349440:A133T;ENSP00000292841:A78T;ENSP00000375998:A78T;ENSP00000347724:A78T	ENSP00000292841:A78T	A	-	1	0	ZNF585A	42336244	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	-4.249000	0.00266	0.770000	0.33336	0.655000	0.94253	GCC		TCGA-2J-AAB6-01A-11D-A40W-08	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	0	0	0	6	877	0	167	0	2.128063e-04	0	3	0	167	2		0	0	0	0	0	2	1	0.964657	6	874	0	165	2								-1.706341	0	1	121410	7	43	1	1	3	4	2.641795	1	0.540000	2.400000	0.691565	0.030000	0	1.000000	0.040000	0.112655	0.030000	0	1.000000e-02	7.000000e-02
CEACAM4	1089	broad.mit.edu	37	19	42132119	42132119	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:42132119C>T	ENST00000221954.2	-	2	390	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	p.A94T(1)		16					CCACTGTATGCGGCCCCTGGG	0.488000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000221954.2	0	1	hg19	CCDS33033.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639939	0.47153	.	.	ENSG00000105352	ENST00000221954	T	0.66280	-0.2	1.76	1.76	0.24704	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76278	0.3965	M	0.84219	2.685	0.09310	N	1	D;D	0.89917	0.997;1.0	D;D	0.73380	0.921;0.98	T	0.61207	-0.7109	9	0.66056	D	0.02	.	6.9535	0.24558	0.0:1.0:0.0:0.0	.	94;94	E7EMX3;O75871	.;CEAM4_HUMAN	T	94	ENSP00000221954:A94T	ENSP00000221954:A94T	A	-	1	0	CEACAM4	46823959	0.000000	0.05858	0.009000	0.14445	0.015000	0.08874	0.618000	0.24373	1.281000	0.44480	0.205000	0.17691	GCA		TCGA-2J-AAB6-01A-11D-A40W-08	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	0	0	0	9	993	1	213	0	0	0	1	1	213	2		0	0	0	0	0	2	0	0.077538	9	980	1	210	17								-1.549873	0	1	121412	4	41	1	1	3	4	2.641795	1	0.540000	2.400000	0.691565	0.040000	0	1.000000	0.040000	0.120559	0.040000	0	2.000000e-02	9.000000e-02
RSPH6A	81492	broad.mit.edu	37	19	46307741	46307741	+	Silent	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:46307741C>T	ENST00000221538.3	-	3	1564	c.1422G>A	c.(1420-1422)ccG>ccA	p.P474P	RSPH6A_ENST00000600188.1_Silent_p.P210P|RSPH6A_ENST00000597055.1_Silent_p.P474P	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)			32					CCTCGTTGCCCGGGAAGGGTG	0.632000																								0							SO:0001819	synonymous_variant			ENST00000221538.3	1	1	hg19	CCDS12675.1																																																																																				TCGA-2J-AAB6-01A-11D-A40W-08	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1	1	0	1	55	343	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	1.000000	53	332	0	73	2								-2.578769	1	1	121412	10	41	1	1	3	4	2.641795	1	0.540000	2.400000	0.691565	0.770000	5.800000e-01	1.000000	0.760000	0.788522	0.770000	0	6.700000e-01	9.000000e-01
PLEKHA4	57664	broad.mit.edu	37	19	49362745	49362745	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:49362745G>A	ENST00000263265.6	-	7	1228	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R225W|PLEKHA4_ENST00000596713.1_5'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4			30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)			CTCGCCCTCCGCATCTGGAGT	0.637000																								0							SO:0001583	missense			ENST00000263265.6	1	1	hg19	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.179782	0.38511	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.15834	2.99;2.39	4.7	2.52	0.30459	.	0.654908	0.13453	N	0.386789	T	0.15435	0.0372	L	0.27053	0.805	0.09310	N	1	D;D	0.71674	0.987;0.998	P;P	0.50896	0.653;0.65	T	0.10132	-1.0643	10	0.41790	T	0.15	.	5.648	0.17600	0.1:0.0:0.7059:0.1941	.	225;225	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	W	225	ENSP00000263265:R225W;ENSP00000347683:R225W	ENSP00000263265:R225W	R	-	1	2	PLEKHA4	54054557	0.004000	0.15560	0.354000	0.25760	0.004000	0.04260	0.418000	0.21230	0.691000	0.31592	0.462000	0.41574	CGG		TCGA-2J-AAB6-01A-11D-A40W-08	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1	1	0	1	184	150	0	68	0	9.999209e-01	1	15	0	68	2		0	0	0	0	0	2	1	1.000000	182	146	0	66	2								-20.000000	1	1	0	0		1	1	3	4	2.641795	1	0.540000	2.400000	0.691565	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIGLEC6	946	broad.mit.edu	37	19	52023419	52023419	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:52023419C>T	ENST00000425629.3	-	8	1433	c.1279G>A	c.(1279-1281)Gct>Act	p.A427T	SIGLEC6_ENST00000359982.4_3'UTR|SIGLEC6_ENST00000474054.1_5'UTR|CTD-3073N11.9_ENST00000598220.1_RNA|SIGLEC6_ENST00000343300.4_3'UTR|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.A411T|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.A375T|SIGLEC6_ENST00000391797.3_3'UTR	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6			28		all_neural(266;0.0199)			TGTAGGACAGCGTAGTGGAGC	0.507000																								0							SO:0001583	missense			ENST00000425629.3	1	1	hg19	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	.	12.92	2.081368	0.36758	0.0	5.97E-4	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000436458	T;T	0.09630	2.96;2.96	2.57	2.57	0.30868	.	.	.	.	.	T	0.33206	0.0855	M	0.84948	2.725	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.955;0.994;0.955	T	0.03212	-1.1060	9	0.87932	D	0	.	8.7521	0.34622	0.0:1.0:0.0:0.0	.	375;411;427	C9JBE5;O43699-3;O43699	.;.;SIGL6_HUMAN	T	400;411;427;375	ENSP00000401502:A427T;ENSP00000410679:A375T	ENSP00000344064:A400T	A	-	1	0	SIGLEC6	56715231	0.165000	0.22948	0.028000	0.17463	0.009000	0.06853	1.102000	0.31050	1.726000	0.51525	0.609000	0.83330	GCT		TCGA-2J-AAB6-01A-11D-A40W-08	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	1	0	1	507	574	0	212		0	0	0	0	212	2		0	0	0	0	0	2	1	1.000000	501	562	0	209	2								-20.000000	1	1	120938	18	47	1	1	3	4	2.641795	1	0.540000	2.400000	0.691565	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FPR1	2357	broad.mit.edu	37	19	52249584	52249584	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:52249584C>T	ENST00000595042.1	-	3	805	c.664G>A	c.(664-666)Ggg>Agg	p.G222R	FPR1_ENST00000304748.4_Missense_Mutation_p.G222R	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1			20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		Nedocromil(DB00716)	GCAATAAGCCCATAACTGACA	0.517000																								0							SO:0001583	missense			ENST00000595042.1	1	1	hg19	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	12.24	1.878537	0.33162	.	.	ENSG00000171051	ENST00000304748	T	0.72725	-0.68	3.65	3.65	0.41850	GPCR, rhodopsin-like superfamily (1);	0.431534	0.23098	N	0.051955	D	0.85465	0.5703	M	0.94063	3.49	0.30381	N	0.781935	D	0.89917	1.0	D	0.87578	0.998	T	0.82550	-0.0401	10	0.62326	D	0.03	.	7.6654	0.28428	0.0:0.8765:0.0:0.1235	.	222	P21462	FPR1_HUMAN	R	222	ENSP00000302707:G222R	ENSP00000302707:G222R	G	-	1	0	FPR1	56941396	0.000000	0.05858	0.484000	0.27391	0.048000	0.14542	0.029000	0.13666	1.956000	0.56807	0.650000	0.86243	GGG		TCGA-2J-AAB6-01A-11D-A40W-08	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	1	0	1	250	276	0	102	1	1	8	28	0	102	2		0	0	0	0	0	2	1	1.000000	248	273	0	102	2								-20.000000	1	1	0	0		1	1	3	4	2.641795	1	0.540000	2.400000	0.691565	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LCE2C	353140	broad.mit.edu	37	1	152648628	152648628	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:152648628C>A	ENST00000368783.1	+	2	192	c.137C>A	c.(136-138)tCt>tAt	p.S46Y	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C			13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)		GCAGTCTCTTCTTGCTGTGGT	0.627000																								0							SO:0001583	missense			ENST00000368783.1	1	1	hg19	CCDS1019.1	.	.	.	.	.	.	.	.	.	.	C	1.426	-0.571575	0.03882	.	.	ENSG00000187180	ENST00000368783	T	0.06218	3.33	3.39	0.0799	0.14418	.	.	.	.	.	T	0.02727	0.0082	M	0.79805	2.47	0.09310	N	1	P	0.47910	0.902	B	0.35413	0.202	T	0.33523	-0.9865	9	0.87932	D	0	.	5.4015	0.16299	0.0:0.4654:0.4079:0.1267	.	46	Q5TA81	LCE2C_HUMAN	Y	46	ENSP00000357772:S46Y	ENSP00000357772:S46Y	S	+	2	0	LCE2C	150915252	0.023000	0.18921	0.264000	0.24511	0.299000	0.27559	0.291000	0.18994	-0.081000	0.12662	0.563000	0.77884	TCT		TCGA-2J-AAB6-01A-11D-A40W-08	LCE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034509.1	1	0	1	191	859	0	216		0	0	0	0	216	2		0	0	0	0	0	2	1	1.000000	187	840	0	215	2								-20.000000	1	1	0	0		1	1	3	4	2.695261	1	0.540000	2.400000	0.693782	0.990000	8.800000e-01	1.000000	1.000000	0.980940	0.990000	1	9.400000e-01	1
TNR	7143	broad.mit.edu	37	1	175365844	175365844	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:175365844T>A	ENST00000367674.2	-	5	1784	c.1076A>T	c.(1075-1077)tAc>tTc	p.Y359F	TNR_ENST00000263525.2_Missense_Mutation_p.Y359F			Q92752	TENR_HUMAN	tenascin R			177	Renal(580;0.146)				CGTCGGCTGGTAAGAGATCAC	0.617000																								0							SO:0001583	missense			ENST00000367674.2	1	1	hg19	CCDS1318.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	29.5|29.5	5.010028|5.010028	0.93346|0.93346	.|.	.|.	ENSG00000116147|ENSG00000116147	ENST00000422274|ENST00000367674;ENST00000263525;ENST00000367673	.|T;T	.|0.61859	.|0.07;0.07	5.96|5.96	5.96|5.96	0.96718|0.96718	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.067516	.|0.64402	.|D	.|0.000009	T|T	0.72342|0.72342	0.3448|0.3448	L|L	0.54965|0.54965	1.715|1.715	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.87578	.|0.998	T|T	0.72779|0.72779	-0.4190|-0.4190	5|10	.|0.51188	.|T	.|0.08	.|.	16.0892|16.0892	0.81080|0.81080	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|359	.|Q92752	.|TENR_HUMAN	F|F	83|359	.|ENSP00000356646:Y359F;ENSP00000263525:Y359F	.|ENSP00000263525:Y359F	L|Y	-|-	3|2	2|0	TNR|TNR	173632467|173632467	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.774000|3.774000	0.55341|0.55341	2.279000|2.279000	0.76181|0.76181	0.533000|0.533000	0.62120|0.62120	TTA|TAC		TCGA-2J-AAB6-01A-11D-A40W-08	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	1	0	1	98	398	0	111		0	0	0	0	111	2		0	0	0	0	0	2	1	1.000000	95	381	0	108	2								-2.936603	1	1	0	0		1	1	2	3	2.278732	1	0.540000	2.400000	0.637795	0.920000	7.600000e-01	1.000000	1.000000	0.923011	0.920000	1	8.400000e-01	1
NPHS2	7827	broad.mit.edu	37	1	179530445	179530445	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:179530445G>T	ENST00000367615.4	-	3	498	c.430C>A	c.(430-432)Cct>Act	p.P144T	NPHS2_ENST00000367616.4_Missense_Mutation_p.P144T	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)			20					GCTCTTCCAGGAAGCAGATGT	0.373000																								0							SO:0001583	missense			ENST00000367615.4	1	1	hg19	CCDS1331.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.794586	0.50102	.	.	ENSG00000116218	ENST00000367615;ENST00000367616	D;D	0.99607	-6.27;-6.27	5.82	5.82	0.92795	.	0.210004	0.44097	D	0.000495	D	0.99140	0.9703	L	0.43923	1.385	0.38352	D	0.944353	D;D	0.59767	0.986;0.985	P;P	0.60886	0.88;0.844	D	0.98710	1.0704	10	0.54805	T	0.06	-18.3363	12.0534	0.53520	0.0787:0.0:0.9213:0.0	.	144;144	Q9NP85-2;Q9NP85	.;PODO_HUMAN	T	144	ENSP00000356587:P144T;ENSP00000356588:P144T	ENSP00000356587:P144T	P	-	1	0	NPHS2	177797068	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.032000	0.41127	2.765000	0.95021	0.650000	0.86243	CCT		TCGA-2J-AAB6-01A-11D-A40W-08	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1	1	0	1	366	539	0	220		0	0	0	0	220	2		0	0	0	0	0	2	1	1.000000	362	535	0	219	2								-20.000000	1	1	0	0		1	1	2	3	2.278732	1	0.540000	2.400000	0.637795	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ASPM	259266	broad.mit.edu	37	1	197112823	197112823	+	Silent	SNP	T	T	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:197112823T>G	ENST00000367409.4	-	3	815	c.559A>C	c.(559-561)Aga>Cga	p.R187R	ASPM_ENST00000294732.7_Silent_p.R187R	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)			165					CTCCTAACTCTGTCAACTTTT	0.343000																								0							SO:0001819	synonymous_variant			ENST00000367409.4	1	1	hg19	CCDS1389.1																																																																																				TCGA-2J-AAB6-01A-11D-A40W-08	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	1	0	1	160	242	0	98	1	1.594059e-01	2	0	0	98	2		0	0	0	0	0	2	1	1.000000	158	240	0	97	2								-20.000000	1	1	0	0		1	1	2	3	2.311165	1	0.540000	2.400000	0.637795	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR14A16	284532	broad.mit.edu	37	1	247978702	247978702	+	Silent	SNP	C	C	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:247978702C>A	ENST00000357627.1	-	1	329	c.330G>T	c.(328-330)ctG>ctT	p.L110L		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16			45					TGAGGAGGAGCAGCTCTGCAG	0.468000													Ovarian(112;180 1586 15073 21914 33526)											0							SO:0001819	synonymous_variant			ENST00000357627.1	1	1	hg19	CCDS31097.1																																																																																				TCGA-2J-AAB6-01A-11D-A40W-08	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	1	0	1	69	300	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1.000000	69	298	0	67	2								-20.000000	1	1	0	0		1	1	2	3	2.277302	1	0.540000	2.400000	0.637795	0.870000	7.000000e-01	1.000000	1.000000	0.880006	0.870000	1	7.800000e-01	9.800000e-01
OR2L8	391190	broad.mit.edu	37	1	248112943	248112943	+	Silent	SNP	A	A	C			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:248112943A>C	ENST00000357191.3	+	1	784	c.784A>C	c.(784-786)Aga>Cga	p.R262R	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)			42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)		TCTACGTCCAAGATCCCTGCG	0.483000																								0							SO:0001819	synonymous_variant			ENST00000357191.3	1	1	hg19	CCDS31101.1																																																																																				TCGA-2J-AAB6-01A-11D-A40W-08	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2	1	0	0	81	292	0	104		0	0	0	0	104	2		0	0	0	0	0	2	1	1.000000	77	279	0	116	2								-20.000000	1	1	0	0		1	1	2	3	2.277302	1	0.540000	2.400000	0.637795	0.990000	8.300000e-01	1.000000	1.000000	0.972078	0.990000	1	9.200000e-01	1
OR2L2	26246	broad.mit.edu	37	1	248202362	248202362	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:248202362C>T	ENST00000366479.2	+	1	889	c.793C>T	c.(793-795)Cga>Tga	p.R265*	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2			42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)		AAGATCCCTGCGATCTCCAAC	0.498000																								0							SO:0001587	stop_gained			ENST00000366479.2	0	1	hg19	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	16.24	3.067941	0.55539	.	.	ENSG00000203663	ENST00000366479	.	.	.	1.9	0.911	0.19343	.	0.000000	0.27636	U	0.018492	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	3.04	0.06135	0.243:0.5305:0.0:0.2264	.	.	.	.	X	265	.	ENSP00000355435:R265X	R	+	1	2	OR2L2	246268985	0.000000	0.05858	0.000000	0.03702	0.207000	0.24258	-2.234000	0.01203	0.005000	0.14708	0.194000	0.17425	CGA		TCGA-2J-AAB6-01A-11D-A40W-08	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	1	0	0	91	336	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1.000000	91	334	0	79	2								-20.000000	1	1	121412	7	38	1	1	2	3	2.277302	1	0.540000	2.400000	0.637795	0.990000	8.200000e-01	1.000000	1.000000	0.966244	0.990000	1	9.000000e-01	1
OR2T6	254879	broad.mit.edu	37	1	248551551	248551551	+	Silent	SNP	G	G	C			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:248551551G>C	ENST00000355728.2	+	1	642	c.642G>C	c.(640-642)gtG>gtC	p.V214V		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6			55	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)		TCTCGGTGGTGACTGCATCCT	0.537000																								0							SO:0001819	synonymous_variant			ENST00000355728.2	0	1	hg19	CCDS31114.1																																																																																				TCGA-2J-AAB6-01A-11D-A40W-08	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	0	0	0	11	338	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	0.998264	11	334	0	75	2								-3.461027	1	1	0	0		1	1	2	3	2.277302	1	0.540000	2.400000	0.637795	0.150000	7.000000e-02	0.250000	0.150000	0.160543	0.150000	0	1.000000e-01	2.100000e-01
AJAP1	55966	broad.mit.edu	37	1	4772146	4772146	+	Silent	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:4772146G>A	ENST00000378191.4	+	2	597	c.216G>A	c.(214-216)gcG>gcA	p.A72A	AJAP1_ENST00000466761.1_3'UTR|AJAP1_ENST00000378190.3_Silent_p.A72A	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	p.A72A(1)		24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)			GACAGCCAGCGCGGGTCCCGG	0.771000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000378191.4	1	1	hg19	CCDS54.1																																																																																				TCGA-2J-AAB6-01A-11D-A40W-08	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	1	0	0	36	83	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	1.000000	32	74	0	38	2								-20.000000	1	1	112412	2	31	1	1	2	3	2.334486	1	0.540000	2.400000	0.637795	0.990000	9.900000e-01	1.000000	1.000000	0.999455	0.990000	1	9.900000e-01	1
GPR153	387509	broad.mit.edu	37	1	6313858	6313858	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:6313858C>T	ENST00000377893.2	-	3	965	c.706G>A	c.(706-708)Gcc>Acc	p.A236T		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153			14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)			GAGGTTTTGGCGGGCTCCGAG	0.677000																								0							SO:0001583	missense			ENST00000377893.2	0	1	hg19	CCDS64.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	12.87	2.067016	0.36470	.	.	ENSG00000158292	ENST00000377893	T	0.71934	-0.61	4.9	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.373744	0.28914	N	0.013730	T	0.56949	0.2020	N	0.19112	0.55	0.29397	N	0.86221	D	0.54772	0.968	P	0.47346	0.544	T	0.53753	-0.8394	10	0.28530	T	0.3	-50.623	9.4756	0.38869	0.0:0.8127:0.0:0.1873	.	236	Q6NV75	GP153_HUMAN	T	236	ENSP00000367125:A236T	ENSP00000367125:A236T	A	-	1	0	GPR153	6236445	0.042000	0.20092	0.950000	0.38849	0.814000	0.46013	0.331000	0.19733	2.277000	0.76020	0.462000	0.41574	GCC		TCGA-2J-AAB6-01A-11D-A40W-08	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003717.2	0	0	0	6	203	0	45	0	7.031154e-01	0	81	0	45	2		0	0	0	0	0	2	1	0.962946	6	198	0	45	2								-2.895820	1	1	121064	20	42	1	1	2	3	2.334486	1	0.540000	2.400000	0.637795	0.140000	5.000000e-02	0.280000	0.130000	0.155623	0.140000	0	9.000000e-02	2.100000e-01
MYL9	10398	broad.mit.edu	37	20	35177521	35177521	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr20:35177521A>G	ENST00000279022.2	+	4	492	c.388A>G	c.(388-390)Atg>Gtg	p.M130V	MYL9_ENST00000346786.2_Missense_Mutation_p.M76V|RP5-977B1.11_ENST00000561134.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory			8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)			GCTCACCACCATGGGTGACCG	0.577000																								0							SO:0001583	missense			ENST00000279022.2	1	1	hg19	CCDS13276.1	.	.	.	.	.	.	.	.	.	.	A	18.75	3.690061	0.68271	.	.	ENSG00000101335	ENST00000279022;ENST00000346786	T;T	0.78595	-1.19;-1.01	4.7	4.7	0.59300	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.75339	0.3836	L	0.48642	1.525	0.30375	N	0.782556	P;B	0.36392	0.551;0.006	P;B	0.44394	0.448;0.004	T	0.71563	-0.4555	10	0.19590	T	0.45	.	13.3054	0.60349	1.0:0.0:0.0:0.0	.	76;130	Q9BUF9;P24844	.;MYL9_HUMAN	V	130;76	ENSP00000279022:M130V;ENSP00000217313:M76V	ENSP00000279022:M130V	M	+	1	0	MYL9	34610935	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.236000	0.95360	1.880000	0.54463	0.533000	0.62120	ATG		TCGA-2J-AAB6-01A-11D-A40W-08	MYL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079015.2	1	0	1	112	199	0	51	1	1	32	619	0	51	2		0	0	0	0	0	2	1	1.000000	110	197	0	51	2								-20.000000	1	1	0	0		1	2	2	4	2.648007	1	0.540000	2.400000	0.687032	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TPTE	7179	broad.mit.edu	37	21	10951332	10951332	+	Missense_Mutation	SNP	C	C	T	rs113140892	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr21:10951332C>T	ENST00000361285.4	-	10	709	c.380G>A	c.(379-381)cGt>cAt	p.R127H	TPTE_ENST00000298232.7_Missense_Mutation_p.R109H|TPTE_ENST00000342420.5_Missense_Mutation_p.R89H|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	p.R109H(1)		130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)		AGAAATAGAACGATACTCCAA	0.338000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000361285.4	1	1	hg19	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	9.751	1.167533	0.21621	0.0	1.16E-4	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420;ENST00000328758	D;D;D	0.97430	-4.38;-4.38;-4.38	1.8	0.877	0.19145	.	0.456228	0.21930	U	0.067036	D	0.92140	0.7508	L	0.49126	1.545	0.09310	N	1	P;P;P	0.39759	0.687;0.687;0.56	B;B;B	0.30716	0.119;0.119;0.056	D	0.86249	0.1648	10	0.52906	T	0.07	-1.829	4.1712	0.10331	0.0:0.7811:0.0:0.2189	.	89;109;127	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	H	109;127;89;109	ENSP00000298232:R109H;ENSP00000355208:R127H;ENSP00000344441:R89H	ENSP00000298232:R109H	R	-	2	0	TPTE	9973203	0.000000	0.05858	0.031000	0.17742	0.132000	0.20833	-0.561000	0.05957	0.313000	0.23062	0.194000	0.17425	CGT		TCGA-2J-AAB6-01A-11D-A40W-08	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1	1	0	0	67	655	1	166		0	0	0	1	166	2		0	0	0	0	0	2	1	1.000000	64	609	0	175	2								-18.030330	1	1	121412	6	39	1						0.540000	2.400000									0	0
ITGB2	3689	broad.mit.edu	37	21	46306690	46306690	+	Silent	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr21:46306690C>T	ENST00000397850.2	-	16	2660	c.2208G>A	c.(2206-2208)agG>agA	p.R736R	ITGB2_ENST00000397852.1_Silent_p.R736R|ITGB2_ENST00000397857.1_Silent_p.R736R|ITGB2_ENST00000302347.5_Silent_p.R736R|ITGB2_ENST00000355153.4_Silent_p.R736R|ITGB2_ENST00000397854.3_Silent_p.R679R			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)			35				Simvastatin(DB00641)	TCTCAAAGCGCCTGTACTCCC	0.617000																								0							SO:0001819	synonymous_variant			ENST00000397850.2	1	1	hg19	CCDS13716.1																																																																																				TCGA-2J-AAB6-01A-11D-A40W-08	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	1	0	1	71	188	0	70	1	1	49	330	0	70	2		0	0	0	0	0	2	1	1.000000	71	185	0	70	2								-20.000000	1	1	0	0		1	0	2	2	1.807900	1	0.540000	2.400000	0.540000	0.990000	8.100000e-01	1.000000	1.000000	0.967891	0.990000	1	9.100000e-01	1
SGSM1	129049	broad.mit.edu	37	22	25294015	25294015	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:25294015A>G	ENST00000400359.4	+	20	2271	c.2264A>G	c.(2263-2265)aAt>aGt	p.N755S	SGSM1_ENST00000400358.4_Missense_Mutation_p.N700S	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1			41					AAGATCCCCAATGGGAACCTA	0.552000																								0							SO:0001583	missense			ENST00000400359.4	1	1	hg19	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	A	8.860	0.946679	0.18356	0.0	1.19E-4	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.06608	3.29;3.28	5.24	3.13	0.36017	Rab-GAP/TBC domain (2);	0.054567	0.64402	U	0.000001	T	0.05640	0.0148	N	0.25890	0.77	0.50467	D	0.999874	P;P;P;P	0.50369	0.571;0.934;0.914;0.85	B;P;P;P	0.49276	0.121;0.53;0.605;0.449	T	0.33214	-0.9877	10	0.05351	T	0.99	-9.6086	8.7962	0.34881	0.8466:0.0:0.1534:0.0	.	700;755;772;755	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	S	755;700;755	ENSP00000383211:N700S;ENSP00000383212:N755S	ENSP00000383211:N700S	N	+	2	0	SGSM1	23624015	1.000000	0.71417	0.991000	0.47740	0.987000	0.75469	4.392000	0.59659	0.419000	0.25927	0.482000	0.46254	AAT		TCGA-2J-AAB6-01A-11D-A40W-08	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	1	0	1	69	61	0	29	0	5.450618e-01	0	3	0	29	2		0	0	0	0	0	2	1	1.000000	67	60	0	29	2								-20.000000	1	1	121002	14	42	1	0	2	2	1.807357	1	0.540000	2.400000	0.540000	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MN1	4330	broad.mit.edu	37	22	28194939	28194939	+	Silent	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:28194939C>T	ENST00000302326.4	-	1	2547	c.1593G>A	c.(1591-1593)caG>caA	p.Q531Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1			45					gctgttgctgctgctgctgct	0.652000			T	ETV6	AML, meningioma										Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		L, O	0							SO:0001819	synonymous_variant			ENST00000302326.4	0	1	hg19	CCDS42998.1																																																																																				TCGA-2J-AAB6-01A-11D-A40W-08	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	1	0	0	11	19	0	14	1	6.053922e-01	4	1	0	14	2	0	1.477273e-01	0	2	0	4	2	0	0.986496	0	17	0	13	2								-19.999990	1	0	112886	3	25	1	0	2	2	1.807357	1	0.540000	2.400000	0.540000	0.990000	7.800000e-01	1.000000	1.000000	0.983738	0.990000	1	9.900000e-01	1
MN1	4330	broad.mit.edu	37	22	28194945	28194945	+	Silent	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:28194945C>T	ENST00000302326.4	-	1	2541	c.1587G>A	c.(1585-1587)caG>caA	p.Q529Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1			45					gctgctgctgctgctgctgct	0.647000			T	ETV6	AML, meningioma										Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		L, O	0							SO:0001819	synonymous_variant			ENST00000302326.4	0	1	hg19	CCDS42998.1																																																																																				TCGA-2J-AAB6-01A-11D-A40W-08	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	1	0	0	16	19	0	14	1	6.166430e-01	4	0	0	14	2	0	2.176387e-01	0	2	0	4	2	0	0.997598	0	17	0	14	2								-20.000000	1	0	0	0		1	0	2	2	1.807357	1	0.540000	2.400000	0.540000	0.990000	9.900000e-01	1.000000	1.000000	0.999121	0.990000	1	9.900000e-01	1
EIF4ENIF1	56478	broad.mit.edu	37	22	31837984	31837984	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:31837984C>T	ENST00000397525.1	-	17	2550	c.2327G>A	c.(2326-2328)cGt>cAt	p.R776H	EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R752H|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.R602H|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.R431H|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R776H|EIF4ENIF1_ENST00000441289.1_5'Flank	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1			36					TTTGGTGTAACGGTTGGCCTG	0.507000																								0							SO:0001583	missense			ENST00000397525.1	1	1	hg19	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419760	0.83559	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180	.	.	.	6.17	6.17	0.99709	.	0.276957	0.42053	D	0.000777	T	0.77942	0.4206	M	0.61703	1.905	0.58432	D	0.999995	D;D;D;D	0.89917	0.988;1.0;0.975;0.999	P;D;P;D	0.78314	0.483;0.991;0.482;0.948	T	0.72871	-0.4161	9	0.35671	T	0.21	-4.8798	19.8676	0.96824	0.0:1.0:0.0:0.0	.	602;776;601;752	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	H	602;776;776;752;431	.	ENSP00000328103:R776H	R	-	2	0	EIF4ENIF1	30167984	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	4.410000	0.59774	2.941000	0.99782	0.655000	0.94253	CGT		TCGA-2J-AAB6-01A-11D-A40W-08	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	1	0	1	226	207	0	112	1	9.999965e-01	16	6	0	112	2		0	0	0	0	0	2	1	1.000000	223	204	0	110	2								-20.000000	1	1	121412	1	38	1	0	2	2	1.807357	1	0.540000	2.400000	0.540000	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
EFCAB6	64800	broad.mit.edu	37	22	43996133	43996133	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:43996133C>T	ENST00000262726.7	-	23	2945	c.2692G>A	c.(2692-2694)Gag>Aag	p.E898K	EFCAB6_ENST00000396231.2_Missense_Mutation_p.E746K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	p.E898K(1)		68		Ovarian(80;0.0247)|all_neural(38;0.025)			CCTTTTCCCTCGGTGTCGTAT	0.428000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000262726.7	1	1	hg19	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.149491	0.37923	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.07800	3.16;3.16	5.0	2.86	0.33363	EF-hand-like domain (1);	0.251434	0.29940	N	0.010811	T	0.07999	0.0200	L	0.59436	1.845	0.22468	N	0.999077	P;D	0.56746	0.897;0.977	B;B	0.39465	0.196;0.3	T	0.31779	-0.9931	10	0.25751	T	0.34	-28.7596	9.1154	0.36755	0.0:0.8248:0.0:0.1752	.	746;898	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	K	746;898	ENSP00000379533:E746K;ENSP00000262726:E898K	ENSP00000262726:E898K	E	-	1	0	EFCAB6	42327466	0.060000	0.20803	0.872000	0.34217	0.680000	0.39746	1.029000	0.30140	1.333000	0.45449	0.655000	0.94253	GAG		TCGA-2J-AAB6-01A-11D-A40W-08	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	1	0	1	141	408	0	166		0	0	0	0	166	2		0	0	0	0	0	2	1	1.000000	137	401	0	163	2								-6.332775	1	1	121412	2	36	1	0	2	2	1.836681	1	0.540000	2.400000	0.540000	0.940000	8.100000e-01	1.000000	1.000000	0.942525	0.940000	1	8.700000e-01	1
LMF2	91289	broad.mit.edu	37	22	50941833	50941833	+	Missense_Mutation	SNP	C	C	T	rs144342127		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:50941833C>T	ENST00000474879.2	-	14	2126	c.2111G>A	c.(2110-2112)cGg>cAg	p.R704Q	LMF2_ENST00000380796.3_Missense_Mutation_p.R591Q|LMF2_ENST00000505981.1_5'Flank|LMF2_ENST00000216080.5_Missense_Mutation_p.R679Q	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2			10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)			CTTCTTTCGCCGGGTGGTCCT	0.672000																								0							SO:0001583	missense			ENST00000474879.2	1	1	hg19	CCDS14093.2	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543489	0.65198	2.32E-4	0.0	ENSG00000100258	ENST00000380796;ENST00000474879;ENST00000216080	T;T;T	0.41758	0.99;1.65;1.64	5.14	5.14	0.70334	.	0.512980	0.18854	N	0.129333	T	0.61048	0.2316	M	0.71581	2.175	0.23356	N	0.997846	D;D	0.76494	0.999;0.999	P;P	0.62649	0.806;0.905	T	0.55995	-0.8052	10	0.62326	D	0.03	-0.3442	14.4462	0.67352	0.0:1.0:0.0:0.0	.	704;679	Q9BU23;Q9BU23-2	LMF2_HUMAN;.	Q	591;704;679	ENSP00000370173:R591Q;ENSP00000424381:R704Q;ENSP00000216080:R679Q	ENSP00000216080:R679Q	R	-	2	0	LMF2	49288699	0.435000	0.25577	0.972000	0.41901	0.066000	0.16364	1.010000	0.29898	2.549000	0.85964	0.491000	0.48974	CGG		TCGA-2J-AAB6-01A-11D-A40W-08	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316833.2	1	0	1	40	114	0	32	1	1	72	125	0	32	2		0	0	0	0	0	2	1	1.000000	38	111	0	30	2								-4.580515	1	1	120878	3	34	1	0	2	2	1.836681	1	0.540000	2.400000	0.540000	0.950000	7.100000e-01	1.000000	1.000000	0.930405	0.950000	1	8.300000e-01	1
ARHGEF4	50649	broad.mit.edu	37	2	131797606	131797606	+	Silent	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:131797606C>T	ENST00000326016.5	+	7	1284	c.765C>T	c.(763-765)gaC>gaT	p.D255D	ARHGEF4_ENST00000355771.3_Silent_p.D184D|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000525839.1_Silent_p.D255D|ARHGEF4_ENST00000392953.3_Silent_p.D255D|ARHGEF4_ENST00000409303.1_Silent_p.D255D|ARHGEF4_ENST00000439368.2_3'UTR	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4			29		Prostate(154;0.055)			TGAATCAGGACGAGCCCGCGG	0.731000																								0							SO:0001819	synonymous_variant			ENST00000326016.5	0	1	hg19	CCDS2165.1																																																																																				TCGA-2J-AAB6-01A-11D-A40W-08	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4	0	0	0	3	16	0	8	0	4.329004e-02	1	1	0	8	2		0	0	0	0	0	2	1	0.795367	3	15	0	8	2								-10.203690	1	1	0	0		1	1	2	3	1.827132	0	0.540000	2.400000	0.542471	0.640000	2.000000e-01	1.000000	1.000000	0.654354	0.640000	0	3.700000e-01	9.900000e-01
POTEE	445582	broad.mit.edu	37	2	132021474	132021474	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:132021474C>T	ENST00000356920.5	+	15	2540	c.2446C>T	c.(2446-2448)Cgc>Tgc	p.R816C	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	p.R816C(1)							CAAGGCCAACCGCGAGAAGAT	0.612000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000356920.5	0	1	hg19	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	13.51	2.259391	0.39995	.	.	ENSG00000188219	ENST00000356920	D	0.97114	-4.25	.	.	.	Actin/actin-like conserved site (1);	.	.	.	.	D	0.98988	0.9655	H	0.99954	5.04	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.95089	0.8220	8	0.87932	D	0	.	2.8768	0.05634	0.4949:0.5045:2.0E-4:3.0E-4	.	816	Q6S8J3	POTEE_HUMAN	C	816	ENSP00000439189:R816C	ENSP00000439189:R816C	R	+	1	0	AC131180.1	131737944	1.000000	0.71417	0.221000	0.23827	0.224000	0.24922	3.183000	0.50918	0.119000	0.18210	0.121000	0.15741	CGC		TCGA-2J-AAB6-01A-11D-A40W-08	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	0	115	390	0	169	0	6.436756e-01	0	9	0	169	2		0	0	0	0	0	2	1	1.000000	99	285	0	237	2								-3.122278	1	1	120786	38	49	1	1	2	3	1.827132	0	0.540000	2.400000	0.542471	0.840000	7.100000e-01	1.000000	0.850000	0.851509	0.840000	0	7.700000e-01	9.200000e-01
TTN	7273	broad.mit.edu	37	2	179455980	179455980	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:179455980C>T	ENST00000591111.1	-	254	55773	c.55549G>A	c.(55549-55551)Ggt>Agt	p.G18517S	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G17590S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G11093S|TTN_ENST00000589042.1_Missense_Mutation_p.G20158S|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G11285S|TTN_ENST00000359218.5_Missense_Mutation_p.G11218S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		GTTTTGCTACCGGCTGCATTG	0.418000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	14.91	2.675466	0.47781	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	6.11	6.11	0.99139	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.89729	0.6799	M	0.90369	3.11	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;1.0;1.0;1.0	D	0.90351	0.4366	9	0.87932	D	0	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	11093;11218;11285;18517	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	17590;11093;11285;11218;11091	ENSP00000343764:G17590S;ENSP00000434586:G11093S;ENSP00000340554:G11285S;ENSP00000352154:G11218S	ENSP00000340554:G11285S	G	-	1	0	TTN	179164226	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.818000	0.86416	2.906000	0.99361	0.655000	0.94253	GGT		TCGA-2J-AAB6-01A-11D-A40W-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	0	202	600	0	265		0	0	0	0	265	2		0	0	0	0	0	2	1	1.000000	198	588	0	260	2								-7.015944	1	1	120846	3	41	1	1	2	3	1.976685	0	0.540000	2.400000	0.563567	0.990000	8.600000e-01	1.000000	1.000000	0.972368	0.990000	1	9.200000e-01	1
SESTD1	91404	broad.mit.edu	37	2	180014068	180014068	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:180014068C>G	ENST00000428443.3	-	7	853	c.537G>C	c.(535-537)ttG>ttC	p.L179F		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1			30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)		CATTGTTAATCAAAGCAAGTT	0.294000																								0							SO:0001583	missense			ENST00000428443.3	1	1	hg19	CCDS33338.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.269212	0.23221	.	.	ENSG00000187231	ENST00000428443	T	0.05258	3.47	5.45	3.65	0.41850	.	0.133962	0.48286	D	0.000189	T	0.02610	0.0079	N	0.08118	0	0.47123	D	0.999326	B	0.29085	0.232	B	0.27170	0.077	T	0.50988	-0.8762	9	.	.	.	-11.3706	3.1066	0.06344	0.1961:0.5273:0.0:0.2766	.	179	Q86VW0	SESD1_HUMAN	F	179	ENSP00000415332:L179F	.	L	-	3	2	SESTD1	179722313	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.934000	0.28910	1.296000	0.44742	0.655000	0.94253	TTG		TCGA-2J-AAB6-01A-11D-A40W-08	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	1	0	1	19	87	0	37	1	9.259439e-01	7	16	0	37	2		0	0	0	0	0	2	1	0.999995	19	87	0	37	2								-20.000000	1	1	0	0		1	1	2	3	1.976685	0	0.540000	2.400000	0.563567	0.730000	4.600000e-01	1.000000	1.000000	0.758573	0.730000	0	5.800000e-01	1
MYT1L	23040	broad.mit.edu	37	2	1893097	1893097	+	Silent	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:1893097G>A	ENST00000399161.2	-	16	3183	c.2436C>T	c.(2434-2436)ggC>ggT	p.G812G	MYT1L_ENST00000428368.2_Silent_p.G810G	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like			97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)			AGTCGCCCTCGCCCAGCTGGA	0.582000																								0							SO:0001819	synonymous_variant			ENST00000399161.2	1	1	hg19																																																																																					TCGA-2J-AAB6-01A-11D-A40W-08	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	1	0	1	78	210	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	1.000000	77	206	0	76	2								-20.000000	1	1	0	0		1	1	2	3	1.902247	0	0.540000	2.400000	0.553268	0.990000	8.400000e-01	1.000000	1.000000	0.978110	0.990000	1	9.300000e-01	1
MAP2	4133	broad.mit.edu	37	2	210574822	210574822	+	Silent	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:210574822G>A	ENST00000360351.4	+	12	5423	c.4917G>A	c.(4915-4917)ccG>ccA	p.P1639P	MAP2_ENST00000361559.4_Silent_p.P283P|MAP2_ENST00000447185.1_Silent_p.P1635P|MAP2_ENST00000199940.6_Silent_p.P340P|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000392194.1_Silent_p.P283P	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2			124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TCTTGGTGCCGAGTGAGAAGA	0.542000													Pancreas(27;423 979 28787 29963)											0							SO:0001819	synonymous_variant			ENST00000360351.4	0	1	hg19	CCDS2384.1																																																																																				TCGA-2J-AAB6-01A-11D-A40W-08	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	0	0	0	5	269	0	57	0	3.987886e-02	0	14	0	57	2		0	0	0	0	0	2	1	0.932469	5	260	0	57	2								-2.763555	1	1	121412	2	37	1	1	2	3	1.909500	0	0.540000	2.400000	0.553268	0.070000	2.000000e-02	1.000000	0.070000	0.164182	0.070000	0	4.000000e-02	1.300000e-01
TMEM198	130612	broad.mit.edu	37	2	220409474	220409474	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:220409474C>T	ENST00000344458.2	+	3	610	c.25C>T	c.(25-27)Cgg>Tgg	p.R9W	RP11-256I23.1_ENST00000596829.1_RNA|CHPF_ENST00000243776.6_5'Flank|CHPF_ENST00000373891.2_5'Flank|TMEM198_ENST00000373883.3_Missense_Mutation_p.R9W|CHPF_ENST00000535926.1_5'Flank			Q66K66	TM198_HUMAN	transmembrane protein 198			16		Renal(207;0.0376)			GGCAACACTGCGGTTCCAGCT	0.617000																								0							SO:0001583	missense			ENST00000344458.2	1	1	hg19	CCDS33385.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	19.17	3.776201	0.70107	.	.	ENSG00000188760	ENST00000344458;ENST00000421791;ENST00000373883	.	.	.	3.94	3.94	0.45596	.	0.562550	0.17727	N	0.164020	T	0.39911	0.1096	N	0.08118	0	0.39157	D	0.962335	B	0.12013	0.005	B	0.01281	0.0	T	0.42899	-0.9424	9	0.66056	D	0.02	-9.0173	16.1416	0.81528	0.0:1.0:0.0:0.0	.	9	Q66K66	TM198_HUMAN	W	9	.	ENSP00000343507:R9W	R	+	1	2	TMEM198	220117718	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	2.182000	0.42556	2.226000	0.72624	0.555000	0.69702	CGG		TCGA-2J-AAB6-01A-11D-A40W-08	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	1	0	1	57	198	0	65	0	4.069410e-01	0	6	0	65	2		0	0	0	0	0	2	1	1.000000	54	195	0	65	2								-3.807542	1	1	121412	1	28	1	1	2	3	1.909500	0	0.540000	2.400000	0.553268	0.860000	6.600000e-01	1.000000	1.000000	0.867010	0.860000	1	7.500000e-01	1
SP140	11262	broad.mit.edu	37	2	231120208	231120208	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:231120208C>T	ENST00000392045.3	+	12	1315	c.1201C>T	c.(1201-1203)Cgc>Tgc	p.R401C	SP140_ENST00000343805.6_Missense_Mutation_p.R341C|SP140_ENST00000486687.2_Missense_Mutation_p.R325C|SP140_ENST00000417495.3_Missense_Mutation_p.R287C|SP140_ENST00000350136.5_Missense_Mutation_p.R270C|SP140_ENST00000420434.3_Intron	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein			12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)			TGGAGAAGAGCGCCAGGAAGC	0.527000																								0							SO:0001583	missense			ENST00000392045.3	1	1	hg19	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	c	9.688	1.151170	0.21371	.	.	ENSG00000079263	ENST00000486687;ENST00000392044;ENST00000350136;ENST00000392045;ENST00000343805	T;T;T;T	0.60040	0.56;0.86;0.62;0.22	2.9	-1.08	0.09936	.	.	.	.	.	T	0.30198	0.0757	N	0.14661	0.345	0.09310	N	1	P;D;P	0.56968	0.688;0.978;0.561	B;B;B	0.37422	0.188;0.249;0.063	T	0.24190	-1.0167	9	0.66056	D	0.02	3.0597	3.4175	0.07381	0.0:0.4239:0.2039:0.3723	.	341;401;367	E9PFJ6;Q13342;E7EX75	.;LY10_HUMAN;.	C	325;367;270;401;341	ENSP00000440107:R325C;ENSP00000345846:R270C;ENSP00000375899:R401C;ENSP00000342096:R341C	ENSP00000342096:R341C	R	+	1	0	SP140	230828452	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.367000	0.20382	-0.283000	0.09115	-0.283000	0.09986	CGC		TCGA-2J-AAB6-01A-11D-A40W-08	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	1	0	1	57	205	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1.000000	57	201	0	66	2								-20.000000	1	1	120848	8	39	1	1	2	3	1.909500	0	0.540000	2.400000	0.553268	0.830000	6.500000e-01	1.000000	1.000000	0.847919	0.830000	0	7.300000e-01	9.800000e-01
KIF1A	547	broad.mit.edu	37	2	241713624	241713624	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:241713624T>C	ENST00000320389.7	-	12	1171	c.1013A>G	c.(1012-1014)tAc>tGc	p.Y338C	KIF1A_ENST00000498729.2_Missense_Mutation_p.Y338C	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A			66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)			GGTCTCATCGTAGTTGATGTC	0.572000																								0							SO:0001583	missense			ENST00000320389.7	1	1	hg19	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	T	17.53	3.413213	0.62511	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.76186	-1.0;-1.0;-1.0	4.33	4.33	0.51752	Kinesin, motor domain (3);	0.000000	0.85682	U	0.000000	D	0.87406	0.6169	M	0.88775	2.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.998;1.0	D	0.89725	0.3922	10	0.87932	D	0	.	13.1872	0.59688	0.0:0.0:0.0:1.0	.	338;338;338	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	C	338	ENSP00000322791:Y338C;ENSP00000438388:Y338C;ENSP00000384231:Y338C	ENSP00000322791:Y338C	Y	-	2	0	KIF1A	241362297	1.000000	0.71417	0.952000	0.39060	0.601000	0.36947	7.764000	0.85297	1.593000	0.50029	0.374000	0.22700	TAC		TCGA-2J-AAB6-01A-11D-A40W-08	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	1	0	1	52	136	0	59	0	4.274396e-01	0	5	0	59	2		0	0	0	0	0	2	1	1.000000	52	135	0	58	2								-20.000000	1	1	0	0		1	1	2	3	1.909500	0	0.540000	2.400000	0.553268	0.990000	8.200000e-01	1.000000	1.000000	0.977504	0.990000	1	9.300000e-01	1
KCNG3	170850	broad.mit.edu	37	2	42671164	42671164	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:42671164A>T	ENST00000306078.1	-	2	1816	c.1221T>A	c.(1219-1221)ttT>ttA	p.F407L	KCNG3_ENST00000394973.4_Missense_Mutation_p.F396L	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3			6					TATGGTAGATAAAAGTGATAG	0.398000																								0							SO:0001583	missense			ENST00000306078.1	1	1	hg19	CCDS1809.1	.	.	.	.	.	.	.	.	.	.	A	12.45	1.943128	0.34283	.	.	ENSG00000171126	ENST00000306078;ENST00000394973	D;D	0.98207	-4.79;-4.79	5.2	-0.932	0.10435	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.96734	0.8934	N	0.11698	0.16	0.47065	D	0.999303	D;D	0.63046	0.992;0.974	D;D	0.76071	0.987;0.969	D	0.94389	0.7612	10	0.66056	D	0.02	.	12.9539	0.58416	0.3285:0.0:0.6715:0.0	.	407;396	Q8TAE7;Q8TAE7-2	KCNG3_HUMAN;.	L	407;396	ENSP00000304127:F407L;ENSP00000378424:F396L	ENSP00000304127:F407L	F	-	3	2	KCNG3	42524668	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	1.574000	0.36482	-0.176000	0.10707	-0.400000	0.06385	TTT		TCGA-2J-AAB6-01A-11D-A40W-08	KCNG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250464.2	1	0	1	133	283	0	108	0	0	0	1	0	108	2		0	0	0	0	0	2	1	1.000000	133	281	0	108	2								-20.000000	1	1	0	0		1	1	2	3	1.810924	0	0.540000	2.400000	0.541239	0.990000	9.900000e-01	1.000000	1.000000	0.999688	0.990000	1	9.900000e-01	1
FSHR	2492	broad.mit.edu	37	2	49190190	49190190	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:49190190G>T	ENST00000406846.2	-	10	1889	c.1770C>A	c.(1768-1770)ttC>ttA	p.F590L	FSHR_ENST00000304421.4_Missense_Mutation_p.F564L|FSHR_ENST00000346173.3_Missense_Mutation_p.F528L|FSHR_ENST00000541117.1_Missense_Mutation_p.F326L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	p.F590L(1)		73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	AAATGGCAAAGAAAGAAATGG	0.532000									Gonadal Dysgenesis, 46 XX															1	Substitution - Missense(1)						SO:0001583	missense	Familial Cancer Database		ENST00000406846.2	1	1	hg19	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857498	0.32791	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	5.35	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.57725	0.2073	L	0.53561	1.675	0.80722	D	1	B;B;B	0.11235	0.004;0.002;0.003	B;B;B	0.15870	0.014;0.008;0.014	T	0.53429	-0.8440	9	.	.	.	.	8.786	0.34821	0.231:0.0:0.769:0.0	.	564;528;590	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	L	590;528;564;326	ENSP00000384708:F590L;ENSP00000333908:F528L;ENSP00000306780:F564L;ENSP00000444172:F326L	.	F	-	3	2	FSHR	49043694	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.409000	0.44583	1.620000	0.50308	0.655000	0.94253	TTC		TCGA-2J-AAB6-01A-11D-A40W-08	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2	1	0	1	33	103	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	1.000000	33	101	0	51	2								-20.000000	1	1	0	0		1	1	2	3	1.810924	0	0.540000	2.400000	0.541239	0.890000	6.500000e-01	1.000000	1.000000	0.888134	0.890000	1	7.600000e-01	1
GGCX	2677	broad.mit.edu	37	2	85779621	85779621	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:85779621G>A	ENST00000233838.4	-	10	1437	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	GGCX_ENST00000430215.3_Missense_Mutation_p.R396C|GGCX_ENST00000473665.1_5'UTR	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase			15				Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	GGAAGCAGGCGGCTCAGGCAA	0.522000											OREG0014747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000233838.4	1	1	hg19	CCDS1978.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756141	0.69648	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	D;D	0.92299	-3.01;-3.01	5.95	5.95	0.96441	.	0.567099	0.20201	N	0.097085	D	0.92120	0.7502	L	0.49778	1.585	0.34474	D	0.703168	D;P;D	0.61080	0.978;0.807;0.989	P;B;P	0.51453	0.606;0.417;0.67	D	0.94367	0.7592	10	0.54805	T	0.06	-1.5644	13.4692	0.61273	0.0:0.1567:0.8433:0.0	.	396;292;453	E9PEE1;B4DQW4;P38435	.;.;VKGC_HUMAN	C	453;396	ENSP00000233838:R453C;ENSP00000408045:R396C	ENSP00000233838:R453C	R	-	1	0	GGCX	85633132	0.988000	0.35896	0.998000	0.56505	0.996000	0.88848	1.939000	0.40213	2.824000	0.97209	0.655000	0.94253	CGC		TCGA-2J-AAB6-01A-11D-A40W-08	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	1	0	1	150	342	0	127	1	9.390689e-01	2	11	0	127	2		0	0	0	0	0	2	1	1.000000	148	340	0	125	2								-10.712790	1	1	121412	2	37	1	1	2	3	1.810924	0	0.540000	2.400000	0.541239	0.990000	9.700000e-01	1.000000	1.000000	0.998834	0.990000	1	9.900000e-01	1
STXBP5L	9515	broad.mit.edu	37	3	120959317	120959317	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:120959317C>A	ENST00000273666.6	+	14	1634	c.1363C>A	c.(1363-1365)Ctt>Att	p.L455I	STXBP5L_ENST00000497029.1_Missense_Mutation_p.L455I|STXBP5L_ENST00000492541.1_Missense_Mutation_p.L455I|STXBP5L_ENST00000471454.1_Missense_Mutation_p.L455I|STXBP5L_ENST00000472879.1_Missense_Mutation_p.L455I	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like			68					AGCTTGGAACCTTGGAGCACA	0.323000																								0							SO:0001583	missense			ENST00000273666.6	0	1	hg19	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.416075	0.25552	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.63096	1.59;-0.02;0.56;0.56;-0.02;-0.02	5.21	0.825	0.18824	WD40 repeat-like-containing domain (2);	0.346259	0.27214	N	0.020399	T	0.52693	0.1750	L	0.55103	1.725	0.47737	D	0.999504	B;B	0.16603	0.018;0.01	B;B	0.19148	0.024;0.021	T	0.46978	-0.9152	10	0.37606	T	0.19	-8.1379	10.0091	0.41975	0.3776:0.554:0.0:0.0684	.	455;455	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	I	455	ENSP00000273666:L455I;ENSP00000420019:L455I;ENSP00000419627:L455I;ENSP00000420287:L455I;ENSP00000420666:L455I;ENSP00000420167:L455I	ENSP00000273666:L455I	L	+	1	0	STXBP5L	122442007	0.232000	0.23762	0.997000	0.53966	0.892000	0.51952	0.713000	0.25794	0.297000	0.22615	-0.397000	0.06425	CTT		TCGA-2J-AAB6-01A-11D-A40W-08	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3	0	0	0	6	301	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	0.963191	6	295	0	71	2								-3.142602	1	1	0	0		1	1	2	3	2.282908	1	0.540000	2.400000	0.637795	0.090000	3.000000e-02	0.190000	0.090000	0.106381	0.090000	0	6.000000e-02	1.500000e-01
TRH	7200	broad.mit.edu	37	3	129696025	129696025	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:129696025G>A	ENST00000302649.3	+	3	1222	c.695G>A	c.(694-696)cGg>cAg	p.R232Q	TRH_ENST00000507066.1_Missense_Mutation_p.R228Q	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone			14					CCTGGTCGGCGGGCAGCCTGG	0.617000													Esophageal Squamous(60;321 1330 17401 41911)											0							SO:0001583	missense			ENST00000302649.3	1	1	hg19	CCDS3066.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	8.889	0.953444	0.18431	2.27E-4	1.17E-4	ENSG00000170893	ENST00000302649;ENST00000507066	T;T	0.56941	0.44;0.43	4.42	3.51	0.40186	.	0.302445	0.35013	N	0.003517	T	0.40171	0.1106	L	0.49126	1.545	0.09310	N	0.999999	P	0.48640	0.913	B	0.35240	0.198	T	0.40831	-0.9542	10	0.56958	D	0.05	-6.4951	9.4211	0.38553	0.0:0.0:0.7781:0.2219	.	232	P20396	TRH_HUMAN	Q	232;228	ENSP00000303452:R232Q;ENSP00000426522:R228Q	ENSP00000303452:R232Q	R	+	2	0	TRH	131178715	0.660000	0.27420	0.018000	0.16275	0.005000	0.04900	1.356000	0.34079	1.146000	0.42352	0.563000	0.77884	CGG		TCGA-2J-AAB6-01A-11D-A40W-08	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	1	0	1	38	153	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	1.000000	37	150	0	33	2								-20.000000	1	1	118390	422	53	1	1	2	3	2.282908	1	0.540000	2.400000	0.637795	0.930000	6.900000e-01	1.000000	1.000000	0.915051	0.930000	1	8.000000e-01	1
NUP210	23225	broad.mit.edu	37	3	13360637	13360637	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:13360637G>A	ENST00000254508.5	-	39	5580	c.5498C>T	c.(5497-5499)aCg>aTg	p.T1833M		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa			66	all_neural(104;0.187)				ATCCCGGGGCGTGCAGACAGT	0.637000																								0							SO:0001583	missense			ENST00000254508.5	0	1	hg19	CCDS33704.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	15.41	2.826752	0.50739	.	.	ENSG00000132182	ENST00000254508	T	0.05081	3.5	5.45	4.56	0.56223	.	1.369470	0.04485	N	0.378425	T	0.10078	0.0247	N	0.22421	0.69	0.09310	N	1	D	0.59767	0.986	P	0.47528	0.549	T	0.50591	-0.8810	10	0.46703	T	0.11	-0.0018	14.191	0.65637	0.0:0.1496:0.8504:0.0	.	1833	Q8TEM1	PO210_HUMAN	M	1833	ENSP00000254508:T1833M	ENSP00000254508:T1833M	T	-	2	0	NUP210	13335637	0.493000	0.26035	0.003000	0.11579	0.045000	0.14185	4.575000	0.60908	1.288000	0.44600	0.561000	0.74099	ACG		TCGA-2J-AAB6-01A-11D-A40W-08	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	1	0	1	19	73	0	9	0	3.751306e-01	1	5	0	9	2		0	0	0	0	0	2	1	0.999993	18	69	0	9	2								-20.000000	1	1	121382	9	34	1	1	2	3	2.282908	1	0.540000	2.400000	0.637795	0.970000	6.300000e-01	1.000000	1.000000	0.918725	0.970000	1	7.900000e-01	1
KY	339855	broad.mit.edu	37	3	134322916	134322916	+	Silent	SNP	G	G	A	rs142832129	by1000genomes	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:134322916G>A	ENST00000423778.2	-	11	1552	c.1491C>T	c.(1489-1491)caC>caT	p.H497H	KY_ENST00000508956.1_Silent_p.H476H|KY_ENST00000503669.1_3'UTR	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase			21					CATCATCCCCGTGGAGGGAAG	0.617000																								0							SO:0001819	synonymous_variant			ENST00000423778.2	1	0	hg19	CCDS46920.1																																																																																				TCGA-2J-AAB6-01A-11D-A40W-08	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	1	0	1	25	99	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	1.000000	24	94	0	29	2								-2.835508	1	1	121028	202	51	1	1	2	3	2.282908	1	0.540000	2.400000	0.637795	0.950000	6.500000e-01	1.000000	1.000000	0.913937	0.950000	1	7.900000e-01	1
SCN5A	6331	broad.mit.edu	37	3	38662392	38662392	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:38662392C>T	ENST00000333535.4	-	5	702	c.553G>A	c.(553-555)Gcg>Acg	p.A185T	SCN5A_ENST00000450102.2_Missense_Mutation_p.A185T|SCN5A_ENST00000451551.2_Missense_Mutation_p.A185T|SCN5A_ENST00000413689.1_Missense_Mutation_p.A185T|SCN5A_ENST00000423572.2_Missense_Mutation_p.A185T|SCN5A_ENST00000455624.2_Missense_Mutation_p.A185T|SCN5A_ENST00000443581.1_Missense_Mutation_p.A185T|SCN5A_ENST00000425664.1_Missense_Mutation_p.A185T|SCN5A_ENST00000449557.2_Missense_Mutation_p.A185T|SCN5A_ENST00000414099.2_Missense_Mutation_p.A185T			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit			107	Medulloblastoma(35;0.163)			Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	AAAGTGAACGCGTGCAGGCAG	0.527000																								0		GRCh37	CM044054	SCN5A	M	rs192113333	SO:0001583	missense			ENST00000333535.4	1	1	hg19	CCDS46796.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.26	2.182805	0.38511	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01	4.13	4.13	0.48395	Ion transport (1);	0.272885	0.36893	N	0.002355	D	0.94568	0.8250	N	0.22421	0.69	0.09310	N	1	P;P;P;P;P;P	0.50710	0.898;0.936;0.898;0.873;0.938;0.846	B;B;B;B;B;B	0.40165	0.249;0.321;0.249;0.255;0.299;0.079	D	0.90051	0.4149	10	0.44086	T	0.13	.	12.7806	0.57474	0.0:0.835:0.165:0.0	.	185;185;185;185;185;185	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	T	185	ENSP00000398962:A185T;ENSP00000398266:A185T;ENSP00000410257:A185T;ENSP00000388797:A185T;ENSP00000397915:A185T;ENSP00000416634:A185T;ENSP00000328968:A185T;ENSP00000399524:A185T;ENSP00000403355:A185T;ENSP00000413996:A185T	ENSP00000328968:A185T	A	-	1	0	SCN5A	38637396	0.008000	0.16893	0.142000	0.22268	0.893000	0.52053	1.343000	0.33930	2.306000	0.77630	0.561000	0.74099	GCG		TCGA-2J-AAB6-01A-11D-A40W-08	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	1	0	1	25	84	0	24		0	0	0	0	24	2		0	0	0	0	0	2	1	1.000000	22	84	0	24	2								-20.000000	1	1	120930	36	44	1	1	2	3	2.282908	1	0.540000	2.400000	0.637795	0.990000	7.400000e-01	1.000000	1.000000	0.964923	0.990000	1	9.000000e-01	1
CDC25A	993	broad.mit.edu	37	3	48219349	48219349	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:48219349G>T	ENST00000302506.3	-	7	1087	c.679C>A	c.(679-681)Ctg>Atg	p.L227M	CDC25A_ENST00000351231.3_Missense_Mutation_p.L187M|RNU7-128P_ENST00000517247.1_RNA	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A			20					GGTACCTTCAGATTCTCTCCA	0.448000																								0							SO:0001583	missense			ENST00000302506.3	1	1	hg19	CCDS2760.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834951	0.32421	.	.	ENSG00000164045	ENST00000302506;ENST00000351231;ENST00000443342	T;T;T	0.36520	1.25;1.25;1.25	5.86	-1.61	0.08399	.	0.298652	0.32068	N	0.006637	T	0.25195	0.0612	L	0.40543	1.245	0.31540	N	0.660029	B;B	0.22746	0.074;0.053	B;B	0.36534	0.145;0.227	T	0.17228	-1.0376	10	0.37606	T	0.19	.	0.6643	0.00848	0.2883:0.1209:0.3425:0.2483	.	187;227	P30304-2;P30304	.;MPIP1_HUMAN	M	227;187;226	ENSP00000303706:L227M;ENSP00000343166:L187M;ENSP00000416483:L226M	ENSP00000303706:L227M	L	-	1	2	CDC25A	48194353	0.984000	0.35163	0.843000	0.33291	0.723000	0.41478	0.184000	0.16939	-0.685000	0.05177	-0.291000	0.09656	CTG		TCGA-2J-AAB6-01A-11D-A40W-08	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257512.2	1	0	1	487	644	0	296	1	8.107497e-01	4	2	0	296	2		0	0	0	0	0	2	1	1.000000	487	623	0	289	2								-20.000000	1	1	0	0		1	1	2	3	2.282908	1	0.540000	2.400000	0.637795	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PXK	54899	broad.mit.edu	37	3	58385103	58385103	+	Splice_Site	SNP	C	C	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:58385103C>G	ENST00000356151.2	+	12	1289	c.1180C>G	c.(1180-1182)Cca>Gca	p.P394A	PXK_ENST00000383715.4_Splice_Site_p.P377A|PXK_ENST00000484288.1_Splice_Site_p.P394A|PXK_ENST00000383716.3_Splice_Site_p.P361A|PXK_ENST00000463280.1_Splice_Site_p.P361A|PXK_ENST00000536660.1_Splice_Site_p.P257A|PXK_ENST00000302779.5_Splice_Site_p.P377A|PXK_ENST00000479241.1_Splice_Site_p.P377A	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase			19					CTTACAGATGCCGTAAGTCAA	0.448000																								0							SO:0001630	splice_region_variant			ENST00000356151.2	1	0	hg19	CCDS2889.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.8|26.8	4.770248|4.770248	0.90108|0.90108	.|.	.|.	ENSG00000168297|ENSG00000168297	ENST00000479134|ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000536660;ENST00000536750	.|T;T;T;T;T;T;T;T	.|0.34667	.|2.12;2.11;2.12;1.4;1.39;1.4;1.35;2.12	5.87|5.87	5.87|5.87	0.94306|0.94306	.|Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65196|0.65196	0.2668|0.2668	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|0.996;0.998;0.989;1.0;0.997;1.0	.|D;D;P;D;D;D	.|0.79108	.|0.953;0.943;0.9;0.992;0.942;0.979	T|T	0.63497|0.63497	-0.6624|-0.6624	5|10	.|0.49607	.|T	.|0.09	-14.302|-14.302	20.5827|20.5827	0.99408|0.99408	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|361;361;361;394;377;394	.|E9PD56;Q7Z7A4-6;B4DID9;Q7Z7A4;Q7Z7A4-4;Q7Z7A4-2	.|.;.;.;PXK_HUMAN;.;.	W|A	148|394;377;361;361;377;394;377;257;257	.|ENSP00000348472:P394A;ENSP00000305045:P377A;ENSP00000373222:P361A;ENSP00000417903:P361A;ENSP00000373221:P377A;ENSP00000417915:P394A;ENSP00000419049:P377A;ENSP00000438356:P257A	.|ENSP00000305045:P377A	C|P	+|+	3|1	2|0	PXK|PXK	58360143|58360143	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.715000|4.715000	0.61909|0.61909	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	TGC|CCA		TCGA-2J-AAB6-01A-11D-A40W-08	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	1	0	1	46	181	0	64	1	8.611607e-01	2	14	0	64	2		0	0	0	0	0	2	1	1.000000	46	180	0	63	2								-3.680894	1	1	0	0		1	1	2	3	2.282908	1	0.540000	2.400000	0.637795	0.950000	7.200000e-01	1.000000	1.000000	0.928815	0.950000	1	8.300000e-01	1
PTPN13	5783	broad.mit.edu	37	4	87622708	87622708	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr4:87622708G>A	ENST00000411767.2	+	7	1012	c.949G>A	c.(949-951)Gag>Aag	p.E317K	PTPN13_ENST00000316707.6_Missense_Mutation_p.E317K|PTPN13_ENST00000511467.1_Missense_Mutation_p.E317K|PTPN13_ENST00000436978.1_Missense_Mutation_p.E317K|PTPN13_ENST00000427191.2_Missense_Mutation_p.E317K			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)			93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)			CTCTTCAGGAGAGACTGCCAC	0.458000																								0							SO:0001583	missense			ENST00000411767.2	1	1	hg19	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.612102	0.46631	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	6.02	5.17	0.71159	.	0.473238	0.18118	N	0.151133	T	0.36853	0.0982	L	0.57536	1.79	0.34254	D	0.679118	B;P;P;B	0.44627	0.037;0.675;0.839;0.259	B;B;B;B	0.36567	0.093;0.228;0.114;0.067	T	0.54450	-0.8292	10	0.38643	T	0.18	.	11.0908	0.48115	0.14:0.0:0.86:0.0	.	317;317;317;317	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	K	317;317;317;317;317;285	ENSP00000408368:E317K;ENSP00000394794:E317K;ENSP00000322675:E317K;ENSP00000407249:E317K;ENSP00000426626:E317K	ENSP00000322675:E317K	E	+	1	0	PTPN13	87841732	1.000000	0.71417	0.990000	0.47175	0.428000	0.31595	3.582000	0.53921	1.547000	0.49401	0.650000	0.86243	GAG		TCGA-2J-AAB6-01A-11D-A40W-08	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1	1	0	1	68	158	0	66	0	3.532939e-01	1	3	0	66	2		0	0	0	0	0	2	1	1.000000	68	158	0	66	2								-7.105578	1	1	0	0		1	1	2	3	1.849916	0	0.540000	2.400000	0.546127	0.990000	9.100000e-01	1.000000	1.000000	0.993830	0.990000	1	9.900000e-01	1
SH3TC2	79628	broad.mit.edu	37	5	148424197	148424197	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr5:148424197A>T	ENST00000515425.1	-	4	385	c.284T>A	c.(283-285)cTc>cAc	p.L95H	SH3TC2_ENST00000394358.2_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.L95H	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2			39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CCTTGCTGAGAGGTCCTACGT	0.438000																								0							SO:0001583	missense			ENST00000515425.1	1	1	hg19	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.360433	0.61403	.	.	ENSG00000169247	ENST00000515425;ENST00000512049	D;D	0.90069	-2.56;-2.61	5.92	5.92	0.95590	.	0.085133	0.46758	D	0.000280	D	0.93973	0.8070	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94506	0.7714	10	0.87932	D	0	.	14.5824	0.68300	1.0:0.0:0.0:0.0	.	95;95	Q14CC0;Q8TF17	.;S3TC2_HUMAN	H	95	ENSP00000423660:L95H;ENSP00000421860:L95H	ENSP00000313025:L95H	L	-	2	0	SH3TC2	148404390	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	7.355000	0.79434	2.255000	0.74692	0.533000	0.62120	CTC		TCGA-2J-AAB6-01A-11D-A40W-08	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	1	0	1	87	78	0	51	1	2.791560e-01	2	0	0	51	2		0	0	0	0	0	2	1	1.000000	86	78	0	51	2								-20.000000	1	1	0	0		1	0	2	2	1.794732	1	0.540000	2.400000	0.540000	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IGF2R	3482	broad.mit.edu	37	6	160501166	160501166	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr6:160501166G>A	ENST00000356956.1	+	39	5840	c.5692G>A	c.(5692-5694)Gat>Aat	p.D1898N		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor			95		Breast(66;0.000777)|Ovarian(120;0.0305)		Mecasermin(DB01277)	TCCAGAAACCGATGACGGCGT	0.532000																								0							SO:0001583	missense			ENST00000356956.1	1	1	hg19	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190890	0.38707	.	.	ENSG00000197081	ENST00000356956	T	0.42131	0.98	5.5	4.64	0.57946	Mannose-6-phosphate receptor, binding (1);Fibronectin, type II, collagen-binding (3);Kringle-like fold (1);	0.753844	0.13297	N	0.398503	T	0.21145	0.0509	L	0.54323	1.7	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.14671	-1.0464	10	0.31617	T	0.26	-21.8803	12.8987	0.58113	0.0752:0.0:0.9248:0.0	.	1898	P11717	MPRI_HUMAN	N	1898	ENSP00000349437:D1898N	ENSP00000349437:D1898N	D	+	1	0	IGF2R	160421156	0.963000	0.33076	0.009000	0.14445	0.005000	0.04900	4.116000	0.57871	1.459000	0.47892	0.655000	0.94253	GAT		TCGA-2J-AAB6-01A-11D-A40W-08	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	1	0	1	119	326	0	147	1	9.999999e-01	20	46	0	147	2		0	0	0	0	0	2	1	1.000000	117	319	0	144	2								-20.000000	1	1	121412	1	35	1	1	2	3	1.810553	0	0.540000	2.400000	0.541239	0.980000	8.400000e-01	1.000000	1.000000	0.966331	0.980000	1	9.100000e-01	1
HIST1H2BO	8348	broad.mit.edu	37	6	27861401	27861401	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr6:27861401G>A	ENST00000303806.4	+	1	199	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H3J_ENST00000479986.1_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank|HIST1H2AM_ENST00000359611.2_5'Flank	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo								CCCGACACCGGCATCTCATCG	0.557000																								0							SO:0001583	missense			ENST00000303806.4	0	1	hg19	CCDS4640.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928991	0.73327	.	.	ENSG00000196331	ENST00000303806	T	0.69435	-0.4	3.55	3.55	0.40652	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.82240	0.4994	M	0.93150	3.385	0.51767	D	0.999939	D	0.61697	0.99	D	0.64595	0.927	D	0.87114	0.2187	9	0.87932	D	0	.	14.9186	0.70818	0.0:0.0:1.0:0.0	.	54	P23527	H2B1O_HUMAN	D	54	ENSP00000303408:G54D	ENSP00000303408:G54D	G	+	2	0	HIST1H2BO	27969380	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	7.022000	0.76431	2.275000	0.75901	0.561000	0.74099	GGC		TCGA-2J-AAB6-01A-11D-A40W-08	HIST1H2BO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040161.1	0	0	0	6	675	0	211	0	0	0	1	0	211	2		0	0	0	0	0	2	1	0.963613	6	666	0	208	2								-1.756810	0	1	0	0		1	0	1	1	1.799322	0	0.540000	2.400000	0.538755	0.030000	0	0.070000	0.040000	0.037343	0.030000	0	1.000000e-02	5.000000e-02
ZC3HAV1	56829	broad.mit.edu	37	7	138749667	138749667	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:138749667G>A	ENST00000242351.5	-	8	2267	c.1951C>T	c.(1951-1953)Cca>Tca	p.P651S	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.P651S|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.P773S	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1			37					GCCTGAAATGGCACAACTCCC	0.453000																								0							SO:0001583	missense			ENST00000242351.5	0	1	hg19	CCDS5851.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.022|9.022	0.985173|0.985173	0.18889|0.18889	.|.	.|.	ENSG00000105939|ENSG00000105939	ENST00000460845|ENST00000242351;ENST00000464606;ENST00000471652;ENST00000540247	.|T;T;T	.|0.27402	.|1.67;1.67;1.67	4.32|4.32	1.18|1.18	0.20946|0.20946	.|WWE domain (1);	.|0.865061	.|0.09843	.|N	.|0.748673	T|T	0.17323|0.17323	0.0416|0.0416	N|N	0.26130|0.26130	0.795|0.795	0.09310|0.09310	N|N	1|1	.|B;B	.|0.13594	.|0.003;0.008	.|B;B	.|0.11329	.|0.004;0.006	T|T	0.32188|0.32188	-0.9916|-0.9916	5|10	.|0.16896	.|T	.|0.51	.|.	4.2286|4.2286	0.10592|0.10592	0.0932:0.1468:0.5896:0.1704|0.0932:0.1468:0.5896:0.1704	.|.	.|651;651	.|Q7Z2W4-2;Q7Z2W4	.|.;ZCCHV_HUMAN	V|S	215|651;773;651;411	.|ENSP00000242351:P651S;ENSP00000418385:P773S;ENSP00000419855:P651S	.|ENSP00000242351:P651S	A|P	-|-	2|1	0|0	ZC3HAV1|ZC3HAV1	138400207|138400207	0.001000|0.001000	0.12720|0.12720	0.027000|0.027000	0.17364|0.17364	0.001000|0.001000	0.01503|0.01503	0.409000|0.409000	0.21082|0.21082	0.536000|0.536000	0.28733|0.28733	-0.293000|-0.293000	0.09583|0.09583	GCC|CCA		TCGA-2J-AAB6-01A-11D-A40W-08	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	0	0	0	5	448	0	73	0	1.725222e-01	0	56	0	73	2		0	0	0	0	0	2	1	0.934529	5	440	0	73	2								-2.686759	1	1	121412	1	30	1	1	2	3	2.280472	1	0.540000	2.400000	0.637795	0.050000	0	0.120000	0.060000	0.061351	0.050000	0	2.000000e-02	9.000000e-02
PKD1L1	168507	broad.mit.edu	37	7	47970835	47970835	+	Silent	SNP	C	C	T	rs141425680		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:47970835C>T	ENST00000289672.2	-	6	653	c.603G>A	c.(601-603)gcG>gcA	p.A201A		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1		BBS9/PKD1L1(2)	142					CCACATCCTCCGCACAGCACA	0.607000																								0							SO:0001819	synonymous_variant			ENST00000289672.2	1	1	hg19	CCDS34633.1																																																																																				TCGA-2J-AAB6-01A-11D-A40W-08	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	1	0	0	48	268	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	1.000000	47	258	0	48	2								-2.480665	0	1	121412	16	43	1	1	2	3	2.303293	1	0.540000	2.400000	0.637795	0.710000	5.400000e-01	0.900000	0.720000	0.723363	0.710000	0	6.200000e-01	8.200000e-01
SEMA3A	10371	broad.mit.edu	37	7	83764207	83764207	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:83764207T>C	ENST00000265362.4	-	2	487	c.173A>G	c.(172-174)cAt>cGt	p.H58R	SEMA3A_ENST00000436949.1_Missense_Mutation_p.H58R	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A			53					AAGGAAGGTATGATAACTGGA	0.388000																								0							SO:0001583	missense			ENST00000265362.4	1	1	hg19	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	t	6.858	0.527583	0.13127	.	.	ENSG00000075213	ENST00000265362;ENST00000436949;ENST00000420047	T;T;T	0.20332	2.08;2.08;2.08	4.93	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.251915	0.47455	D	0.000223	T	0.12178	0.0296	N	0.12422	0.21	0.58432	D	0.999995	B	0.24132	0.098	B	0.31191	0.125	T	0.04537	-1.0944	10	0.02654	T	1	.	14.8712	0.70459	0.0:0.0:0.0:1.0	.	58	Q14563	SEM3A_HUMAN	R	58	ENSP00000265362:H58R;ENSP00000415260:H58R;ENSP00000391900:H58R	ENSP00000265362:H58R	H	-	2	0	SEMA3A	83602143	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	7.596000	0.82721	1.970000	0.57323	0.383000	0.25322	CAT		TCGA-2J-AAB6-01A-11D-A40W-08	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	1	0	1	144	183	0	79	1	9.998715e-01	6	15	0	79	2		0	0	0	0	0	2	1	1.000000	143	182	0	78	2								-20.000000	1	1	0	0		1	1	2	3	2.280472	1	0.540000	2.400000	0.637795	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZSCAN21	7589	broad.mit.edu	37	7	99654807	99654807	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:99654807C>T	ENST00000292450.4	+	2	342	c.178C>T	c.(178-180)Cga>Tga	p.R60*	ZSCAN21_ENST00000543588.1_Nonsense_Mutation_p.R60*|ZSCAN21_ENST00000456748.2_Nonsense_Mutation_p.R60*|ZSCAN21_ENST00000477297.1_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21			21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)		CCCTGGACCCCGAGAGGCCCT	0.577000																								0							SO:0001587	stop_gained			ENST00000292450.4	0	1	hg19	CCDS5681.1	.	.	.	.	.	.	.	.	.	.	C	32	5.126050	0.94429	.	.	ENSG00000166529	ENST00000543588;ENST00000292450;ENST00000456748;ENST00000438937;ENST00000379635	.	.	.	4.91	3.06	0.35304	.	0.000000	0.35436	N	0.003206	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9397	0.19186	0.189:0.7149:0.0:0.0962	.	.	.	.	X	60	.	ENSP00000292450:R60X	R	+	1	2	ZSCAN21	99492743	0.350000	0.24878	0.968000	0.41197	0.669000	0.39330	0.544000	0.23253	0.758000	0.33059	0.655000	0.94253	CGA		TCGA-2J-AAB6-01A-11D-A40W-08	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	1	0	1	107	321	0	97	0	6.996729e-01	1	8	0	97	2		0	0	0	0	0	2	1	1.000000	105	311	0	95	2								-4.835991	1	1	121412	2	36	1	1	2	3	2.280472	1	0.540000	2.400000	0.637795	0.990000	9.800000e-01	1.000000	1.000000	0.998908	0.990000	1	9.900000e-01	1
ZFAT	57623	broad.mit.edu	37	8	135614834	135614834	+	Silent	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr8:135614834C>T	ENST00000377838.3	-	6	1302	c.1128G>A	c.(1126-1128)gcG>gcA	p.A376A	ZFAT_ENST00000520214.1_Silent_p.A364A|ZFAT_ENST00000429442.2_Silent_p.A364A|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000523399.1_Silent_p.A314A|ZFAT_ENST00000520356.1_Silent_p.A364A|ZFAT_ENST00000520727.1_Silent_p.A364A	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing			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)		GTGGGTCATGCGCGTCTCGGA	0.552000																								0							SO:0001819	synonymous_variant			ENST00000377838.3	0	1	hg19	CCDS47924.1																																																																																				TCGA-2J-AAB6-01A-11D-A40W-08	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	0	0	0	6	308	0	104	0	0	0	1	0	104	2		0	0	0	0	0	2	1	0.963596	5	304	0	104	2								-2.114022	0	1	121082	2	34	1	0	0	0	1.766479	0	0.540000	2.400000	0.529845	0.070000	2.000000e-02	0.140000	0.070000	0.080058	0.070000	0	4.000000e-02	1.100000e-01
NTNG2	84628	broad.mit.edu	37	9	135114577	135114577	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr9:135114577C>T	ENST00000393229.3	+	6	1917	c.1141C>T	c.(1141-1143)Cga>Tga	p.R381*	NTNG2_ENST00000393228.4_Nonsense_Mutation_p.R373*|NTNG2_ENST00000360670.3_Nonsense_Mutation_p.R387*	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2			29					GCACAACACGCGAGGTCAGCA	0.607000																								0							SO:0001587	stop_gained			ENST00000393229.3	0	1	hg19	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	C	42	9.475566	0.99181	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670	.	.	.	4.94	3.05	0.35203	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	12.9469	0.58376	0.2951:0.7048:0.0:0.0	.	.	.	.	X	381;373;387	.	ENSP00000353888:R387X	R	+	1	2	NTNG2	134104398	0.026000	0.19158	0.331000	0.25455	0.354000	0.29330	0.378000	0.20569	0.471000	0.27319	-0.310000	0.09108	CGA		TCGA-2J-AAB6-01A-11D-A40W-08	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	1	0	1	84	170	0	77	0	2.549748e-01	0	3	0	77	2		0	0	0	0	0	2	1	1.000000	83	168	0	76	2								-9.701947	1	1	0	0		1	0	2	2	1.772324	1	0.540000	2.400000	0.540000	0.990000	9.900000e-01	1.000000	1.000000	0.999413	0.990000	1	9.900000e-01	1
CACNA1F	778	broad.mit.edu	37	X	49063557	49063557	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chrX:49063557G>C	ENST00000376265.2	-	44	5234	c.5173C>G	c.(5173-5175)Ctc>Gtc	p.L1725V	CACNA1F_ENST00000323022.5_Missense_Mutation_p.L1714V|CACNA1F_ENST00000376251.1_Missense_Mutation_p.L1660V	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit			85				Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGAAAATGAGAGCCCCAGAG	0.547000																								0							SO:0001583	missense			ENST00000376265.2	0	1	hg19	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	G	2.789	-0.251861	0.05829	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.96265	-3.96;-3.88;-3.88	3.97	-0.788	0.10939	.	16.143700	0.00166	N	0.000000	D	0.89795	0.6818	N	0.08118	0	0.09310	N	1	B;B	0.21905	0.062;0.001	B;B	0.22152	0.038;0.001	D	0.83992	0.0338	10	0.15499	T	0.54	.	7.2841	0.26328	0.4927:0.0:0.5073:0.0	.	1714;1725	F5CIQ9;O60840	.;CAC1F_HUMAN	V	1660;1714;1725	ENSP00000365427:L1660V;ENSP00000321618:L1714V;ENSP00000365441:L1725V	ENSP00000321618:L1714V	L	-	1	0	CACNA1F	48950501	0.029000	0.19370	0.052000	0.19188	0.992000	0.81027	-0.100000	0.10990	-0.292000	0.08999	0.529000	0.55759	CTC		TCGA-2J-AAB6-01A-11D-A40W-08	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	1	0	0	16	5	0	9		0	0	0	0	9	2		0	0	0	0	0	2	1	0.999999	16	5	0	9	2								-20.000000	1	1	0	0		1	0	1	1			0.540000	2.400000	0.540000	0.940000	7.400000e-01	1.000000	0.990000	0.928455	0.940000	1	8.600000e-01	9.900000e-01
