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
TMEM180	79847	broad.mit.edu	37	10	104235646	104235646	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr10:104235646T>C	ENST00000238936.4	+	10	1696	c.1459T>C	c.(1459-1461)Tcc>Ccc	p.S487P	TMEM180_ENST00000366277.2_Missense_Mutation_p.S216P	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180			13		Colorectal(252;0.122)			CTTCACCTGGTCCCAGTTCAC	0.627000																								0							SO:0001583	missense			ENST00000238936.4	0	1	hg19	CCDS7535.1	.	.	.	.	.	.	.	.	.	.	t	17.56	3.420014	0.62622	.	.	ENSG00000138111	ENST00000366277;ENST00000238936;ENST00000369930	.	.	.	4.82	3.69	0.42338	.	0.102864	0.64402	N	0.000002	T	0.69967	0.3170	M	0.80028	2.48	0.51767	D	0.999933	D	0.60160	0.987	D	0.63488	0.915	T	0.67745	-0.5591	9	0.36615	T	0.2	.	6.8488	0.24003	0.134:0.0755:0.0:0.7905	.	487	Q14CX5	TM180_HUMAN	P	216;487;216	.	ENSP00000238936:S487P	S	+	1	0	TMEM180	104225636	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	6.216000	0.72212	0.820000	0.34516	0.255000	0.18592	TCC		TCGA-LB-A9Q5-01A-11D-A397-08	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050075.2	0	0	0	4	146	0	36	0	1.289990e-03	0	2	0	36	2		0	0	0	0	0	2	1	0.884969	4	142	0	36	2		0	0	0	0	0	2	-6.590775	1	1	121412	2	31	1	0	0	0	1.954183	0	0.240000	2	0.219392	0.230000	0.070000	0.500000	0.210000	0.260596	0.230000	0	0.140000	0.370000
EIF3A	8661	broad.mit.edu	37	10	120801889	120801889	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr10:120801889G>A	ENST00000369144.3	-	19	3270	c.3143C>T	c.(3142-3144)cCg>cTg	p.P1048L	EIF3A_ENST00000541549.1_Missense_Mutation_p.P1014L	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A			56		Lung NSC(174;0.094)|all_lung(145;0.123)			TCCTCGCCTCGGCCCCCGGTC	0.607000																								0							SO:0001583	missense			ENST00000369144.3	0	1	hg19	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.917505	0.33815	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.25579	1.79;1.8	5.41	0.456	0.16655	.	0.187445	0.25433	N	0.030713	T	0.22820	0.0551	M	0.76002	2.32	0.80722	D	1	P;B	0.37061	0.58;0.002	B;B	0.26202	0.067;0.001	T	0.06463	-1.0825	10	0.49607	T	0.09	-0.3992	10.0066	0.41961	0.3389:0.0:0.6611:0.0	.	1014;1048	F5H335;Q14152	.;EIF3A_HUMAN	L	1048;1014	ENSP00000358140:P1048L;ENSP00000438178:P1014L	ENSP00000358140:P1048L	P	-	2	0	EIF3A	120791879	0.989000	0.36119	0.065000	0.19835	0.956000	0.61745	1.972000	0.40540	-0.059000	0.13154	-0.126000	0.14955	CCG		TCGA-LB-A9Q5-01A-11D-A397-08	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	0	0	0	9	760	1	231	0	1.273683e-01	3	189	1	231	5		0	0	0	0	0	2	0	0.253193	9	754	1	227	13		0	0	0	0	0	2	-2.101591	0	1	121412	1	35	1	0	0	0	1.954183	0	0.240000	2	0.219392	0.090000	0.040000	0.170000	0.090000	0.104748	0.090000	0	0.060000	0.140000
PBLD	64081	broad.mit.edu	37	10	70056061	70056061	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr10:70056061G>A	ENST00000358769.2	-	4	447	c.245C>T	c.(244-246)gCc>gTc	p.A82V	PBLD_ENST00000309049.4_Missense_Mutation_p.A82V|PBLD_ENST00000495025.2_Missense_Mutation_p.A82V|PBLD_ENST00000432941.1_Missense_Mutation_p.A82V|PBLD_ENST00000336578.1_Missense_Mutation_p.A49V	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing			21					AGCCAGGGTGGCATGGCCACA	0.423000																								0							SO:0001583	missense			ENST00000358769.2	1	1	hg19	CCDS7277.2	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517219	0.85495	.	.	ENSG00000108187	ENST00000336578;ENST00000358769;ENST00000309049;ENST00000432941	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.67	4.76	0.60689	.	0.058094	0.64402	D	0.000002	T	0.74741	0.3756	H	0.96269	3.795	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.83322	-0.0017	10	0.87932	D	0	-10.1697	13.9539	0.64135	0.0:0.1521:0.8479:0.0	.	82;82	C9JIM0;P30039	.;PBLD_HUMAN	V	49;82;82;82	ENSP00000338041:A49V;ENSP00000351619:A82V;ENSP00000308466:A82V;ENSP00000395534:A82V	ENSP00000308466:A82V	A	-	2	0	PBLD	69726067	1.000000	0.71417	0.923000	0.36655	0.851000	0.48451	5.741000	0.68638	1.378000	0.46305	0.561000	0.74099	GCC		TCGA-LB-A9Q5-01A-11D-A397-08	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048314.1	0	0	0	5	200	0	54	0	2.793004e-01	0	36	0	54	2		0	0	0	0	0	2	1	0.938308	5	200	0	54	2		0	0	0	0	0	2	-3.167927	1	1	0	0		1	0	0	0	1.954183	0	0.240000	2	0.219392	0.210000	0.070000	0.420000	0.200000	0.231107	0.210000	0	0.130000	0.320000
HK1	3098	broad.mit.edu	37	10	71119706	71119706	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr10:71119706C>T	ENST00000359426.6	+	3	384	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	HK1_ENST00000448642.2_Missense_Mutation_p.R129W|HK1_ENST00000360289.2_Missense_Mutation_p.R82W|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000404387.2_Missense_Mutation_p.R98W|HK1_ENST00000298649.3_Missense_Mutation_p.R93W	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1			35					TCGAATTCTGCGGGTGCAAGT	0.478000																								0							SO:0001583	missense			ENST00000359426.6	0	1	hg19	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995975	0.54147	.	.	ENSG00000156515	ENST00000450646;ENST00000360289;ENST00000448642;ENST00000421088;ENST00000404387;ENST00000436817;ENST00000298649;ENST00000359426;ENST00000405407	T;T;T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48	5.51	3.59	0.41128	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49457	0.1558	M	0.67625	2.065	0.80722	D	1	B;B;B;B;B	0.19817	0.006;0.016;0.029;0.039;0.003	B;B;B;B;B	0.15484	0.006;0.013;0.013;0.013;0.002	T	0.41088	-0.9528	10	0.25751	T	0.34	-2.9677	13.4228	0.61007	0.434:0.566:0.0:0.0	.	94;93;129;98;82	P19367;P19367-2;E7ENR4;P19367-3;P19367-4	HXK1_HUMAN;.;.;.;.	W	98;82;129;82;98;93;93;94;94	ENSP00000409761:R98W;ENSP00000353433:R82W;ENSP00000402103:R129W;ENSP00000398316:R82W;ENSP00000384774:R98W;ENSP00000415949:R93W;ENSP00000298649:R93W;ENSP00000352398:R94W	ENSP00000298649:R93W	R	+	1	2	HK1	70789712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.964000	0.49192	0.621000	0.30232	0.561000	0.74099	CGG		TCGA-LB-A9Q5-01A-11D-A397-08	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	0	0	0	6	440	0	135	0	1.184928e-01	0	37	0	135	2		0	0	0	0	0	2	1	0.964225	6	436	0	133	2		0	0	0	0	0	2	-1.992832	0	1	121412	1	33	1	0	0	0	1.954183	0	0.240000	2	0.219392	0.110000	0.040000	0.220000	0.110000	0.125763	0.110000	0	0.070000	0.170000
DPAGT1	1798	broad.mit.edu	37	11	118971495	118971495	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr11:118971495G>A	ENST00000409993.2	-	5	1892	c.341C>T	c.(340-342)gCg>gTg	p.A114V	DPAGT1_ENST00000432443.2_Missense_Mutation_p.A7V|DPAGT1_ENST00000445653.1_5'UTR|DPAGT1_ENST00000354202.4_Missense_Mutation_p.A114V			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)			17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)			TACATCATCCGCAAAGCCCAG	0.567000											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000409993.2	0	1	hg19	CCDS8411.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692412	0.88735	.	.	ENSG00000172269	ENST00000409993;ENST00000354202;ENST00000432443	D;D;D	0.92348	-3.02;-3.02;-3.02	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.87249	0.6130	L	0.32530	0.975	0.80722	D	1	P;B	0.41393	0.748;0.219	B;B	0.33890	0.172;0.09	D	0.88514	0.3091	10	0.54805	T	0.06	-32.643	18.1546	0.89687	0.0:0.0:1.0:0.0	.	7;114	E7EW40;Q9H3H5	.;GPT_HUMAN	V	114;114;7	ENSP00000386597:A114V;ENSP00000346142:A114V;ENSP00000404036:A7V	ENSP00000346142:A114V	A	-	2	0	DPAGT1	118476705	1.000000	0.71417	0.986000	0.45419	0.998000	0.95712	9.869000	0.99810	2.524000	0.85096	0.563000	0.77884	GCG		TCGA-LB-A9Q5-01A-11D-A397-08	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	0	0	0	4	186	0	38	0	3.631737e-01	0	50	0	38	2		0	0	0	0	0	2	1	0.890011	4	185	0	38	2		0	0	0	0	0	2	-2.966489	1	1	121412	3	31	1	1	2	3	2.001681	0	0.240000	2	0.241820	0.190000	0.060000	0.460000	0.180000	0.221662	0.190000	0	0.110000	0.310000
ROBO4	54538	broad.mit.edu	37	11	124761327	124761327	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr11:124761327G>A	ENST00000306534.3	-	12	2301	c.1816C>T	c.(1816-1818)Cgc>Tgc	p.R606C	ROBO4_ENST00000533054.1_Missense_Mutation_p.R461C|RP11-664I21.6_ENST00000524433.1_5'UTR	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)			76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)			GGTGGGAGGCGCCTGACAGCT	0.662000																								0							SO:0001583	missense			ENST00000306534.3	1	1	hg19	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	G	8.823	0.937980	0.18206	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.64991	-0.13;0.24	6.11	1.95	0.26073	.	0.389841	0.19154	N	0.121379	T	0.52468	0.1736	M	0.65975	2.015	0.34129	D	0.665067	B;B;B	0.13145	0.007;0.001;0.004	B;B;B	0.08055	0.002;0.001;0.003	T	0.52094	-0.8621	10	0.33141	T	0.24	.	4.1764	0.10353	0.2735:0.0:0.5689:0.1575	.	606;496;606	Q8WZ75-2;Q8WZ75-3;Q8WZ75	.;.;ROBO4_HUMAN	C	606;496;461	ENSP00000304945:R606C;ENSP00000437129:R461C	ENSP00000304945:R606C	R	-	1	0	ROBO4	124266537	0.937000	0.31787	0.452000	0.26994	0.311000	0.27955	0.378000	0.20569	0.419000	0.25927	-0.137000	0.14449	CGC		TCGA-LB-A9Q5-01A-11D-A397-08	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	1	0	0	12	178	0	53	0	3.679494e-01	0	19	0	53	2		0	0	0	0	0	2	1	0.999130	12	175	0	51	2		0	0	0	0	0	2	-3.321142	1	1	121394	5	36	1	1	2	3	2.001681	0	0.240000	2	0.241820	0.540000	0.290000	0.920000	0.520000	0.560290	0.540000	0	0.400000	0.710000
ABTB2	25841	broad.mit.edu	37	11	34226220	34226220	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr11:34226220C>T	ENST00000435224.2	-	2	1325	c.901G>A	c.(901-903)Gca>Aca	p.A301T	ABTB2_ENST00000298992.2_Missense_Mutation_p.A115T|ABTB2_ENST00000530814.1_5'UTR	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2			25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)			CTGAAGTATGCGGGGAGGGAG	0.637000																								0							SO:0001583	missense			ENST00000435224.2	0	1	hg19	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989268	0.53934	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.60040	0.22;0.22	5.1	5.1	0.69264	Histone-fold (2);	0.060615	0.64402	D	0.000004	T	0.43055	0.1230	L	0.42245	1.32	0.53005	D	0.999969	P	0.48640	0.913	B	0.33121	0.158	T	0.40942	-0.9536	10	0.21014	T	0.42	-16.1742	14.1808	0.65574	0.0:0.8504:0.1496:0.0	.	115	Q8N961	ABTB2_HUMAN	T	301;115	ENSP00000410157:A301T;ENSP00000298992:A115T	ENSP00000298992:A115T	A	-	1	0	ABTB2	34182796	1.000000	0.71417	0.253000	0.24343	0.787000	0.44495	5.696000	0.68287	2.366000	0.80165	0.455000	0.32223	GCA		TCGA-LB-A9Q5-01A-11D-A397-08	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	0	0	0	4	160	0	49	0	6.138717e-03	0	4	0	49	2		0	0	0	0	0	2	1	0.849843	4	136	0	39	2		0	0	0	0	0	2	-3.568985	1	1	0	0		1	1	2	3	2.001681	0	0.240000	2	0.241820	0.220000	0.070000	0.530000	0.200000	0.254202	0.220000	0	0.130000	0.360000
OR52B4	143496	broad.mit.edu	37	11	4389022	4389022	+	Silent	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr11:4389022C>T	ENST00000408920.2	-	1	594	c.504G>A	c.(502-504)ttG>ttA	p.L168L		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4			31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)			GGCAGAAAGTCAATCTTTTTA	0.343000																								0							SO:0001819	synonymous_variant			ENST00000408920.2	1	1	hg19	CCDS41609.1																																																																																				TCGA-LB-A9Q5-01A-11D-A397-08	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3	0	0	0	11	360	0	109		0	0	0	0	109	2		0	0	0	0	0	2	1	0.998392	11	360	0	109	2		0	0	0	0	0	2	-11.020770	1	1	0	0		1	1	2	3	2.001681	0	0.240000	2	0.241820	0.250000	0.130000	0.450000	0.240000	0.273660	0.250000	0	0.180000	0.340000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	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	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-LB-A9Q5-01A-11D-A397-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	0	16	334	0	81	1	9.844747e-02	4	7	0	81	2	1	9.993871e-01	26	469	1	542	6	1	0.999930	16	329	0	79	2	1	1	607	7421	8	8005	17	-4.738191	1	1	121404	2	44	1	1	2	3	2.003470	0	0.240000	2	0.241820	0.380000	0.230000	0.630000	0.380000	0.405703	0.380000	0	0.300000	0.500000
CCND2	894	broad.mit.edu	37	12	4387932	4387932	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr12:4387932G>A	ENST00000261254.3	+	3	687	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	RP11-264F23.3_ENST00000539135.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2			17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)		CCAGGAGTGGGAACTGGTGGT	0.562000			T	IGL@	NHL,CLL										Dom	yes		12	12p13	894	cyclin D2		L	0							SO:0001583	missense			ENST00000261254.3	0	1	hg19	CCDS8524.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.7|27.7	4.856601|4.856601	0.91355|0.91355	.|.	.|.	ENSG00000118971|ENSG00000118971	ENST00000261254|ENST00000536537	T|.	0.45276|.	0.9|.	4.79|4.79	4.79|4.79	0.61399|0.61399	Cyclin, N-terminal (1);Cyclin-like (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88698|0.88698	0.6507|0.6507	H|H	0.97783|0.97783	4.075|4.075	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.93199|0.93199	0.6590|0.6590	10|5	0.87932|.	D|.	0|.	.|.	16.8234|16.8234	0.85924|0.85924	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	140|.	P30279|.	CCND2_HUMAN|.	K|E	140|55	ENSP00000261254:E140K|.	ENSP00000261254:E140K|.	E|G	+|+	1|2	0|0	CCND2|CCND2	4258193|4258193	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.870000|0.870000	0.49936|0.49936	9.860000|9.860000	0.99555|0.99555	2.198000|2.198000	0.70561|0.70561	0.561000|0.561000	0.74099|0.74099	GAA|GGA		TCGA-LB-A9Q5-01A-11D-A397-08	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398287.1	0	0	0	8	340	0	105	0	3.934855e-02	0	12	0	105	2		0	0	0	0	0	2	1	0.989323	8	338	0	104	2		0	0	0	0	0	2	-3.284531	1	1	0	0		1	1	2	3	2.012032	0	0.240000	2	0.244533	0.200000	0.090000	1.000000	0.190000	0.243523	0.200000	0	0.140000	0.300000
ATP5B	506	broad.mit.edu	37	12	57037309	57037309	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr12:57037309C>T	ENST00000262030.3	-	5	720	c.670G>A	c.(670-672)Gcc>Acc	p.A224T	ATP5B_ENST00000552919.1_Missense_Mutation_p.A224T|SNORD59A_ENST00000384304.1_RNA|ATP5B_ENST00000550162.1_5'Flank	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	p.A224T(1)		19					TGGGCTTTGGCGACATTGTTG	0.413000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000262030.3	0	1	hg19	CCDS8924.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	C|C	27.9|27.9	4.873953|4.873953	0.91664|0.91664	.|.	.|.	ENSG00000110955|ENSG00000110955	ENST00000262030;ENST00000552919;ENST00000551020;ENST00000551570;ENST00000553007|ENST00000552959	T;T;T;T;T|.	0.79352|.	-1.26;-1.26;-1.26;-1.26;-1.26|.	5.9|5.9	5.9|5.9	0.94986|0.94986	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);ATPase, AAA+ type, core (1);|.	0.099413|.	0.64402|.	D|.	0.000002|.	D|D	0.84009|0.84009	0.5378|0.5378	M|M	0.87381|0.87381	2.88|2.88	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.66084|.	0.941|.	D|D	0.85062|0.85062	0.0935|0.0935	10|5	0.87932|.	D|.	0|.	-3.7647|-3.7647	19.0535|19.0535	0.93054|0.93054	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	224|.	P06576|.	ATPB_HUMAN|.	T|H	224;224;163;17;125|160	ENSP00000262030:A224T;ENSP00000450297:A224T;ENSP00000446677:A163T;ENSP00000448428:A17T;ENSP00000447571:A125T|.	ENSP00000262030:A224T|.	A|R	-|-	1|2	0|0	ATP5B|ATP5B	55323576|55323576	1.000000|1.000000	0.71417|0.71417	0.966000|0.966000	0.40874|0.40874	0.993000|0.993000	0.82548|0.82548	7.688000|7.688000	0.84153|0.84153	2.786000|2.786000	0.95864|0.95864	0.563000|0.563000	0.77884|0.77884	GCC|CGC		TCGA-LB-A9Q5-01A-11D-A397-08	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1	0	0	0	5	399	1	110	0	3.909988e-02	3	642	1	110	20		0	0	0	0	0	2	0	0.028781	5	396	1	110	14		0	0	0	0	0	2	-2.354045	0	1	121412	1	28	1	0	1	1	1.987129	0	0.240000	2	0.233562	0.100000	0.030000	0.220000	0.100000	0.121130	0.100000	0	0.060000	0.170000
CDC42BPB	9578	broad.mit.edu	37	14	103434632	103434632	+	Missense_Mutation	SNP	C	C	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr14:103434632C>A	ENST00000361246.2	-	16	2592	c.2304G>T	c.(2302-2304)atG>atT	p.M768I		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)			49		Melanoma(154;0.155)			CATCAAACAGCATCGCTCTTT	0.368000																								0							SO:0001583	missense			ENST00000361246.2	0	1	hg19	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	C	0.788	-0.759973	0.03019	.	.	ENSG00000198752	ENST00000361246	T	0.63580	-0.05	4.47	2.64	0.31445	.	0.272643	0.42682	N	0.000661	T	0.39545	0.1082	N	0.17082	0.46	0.39110	D	0.961469	B	0.02656	0.0	B	0.01281	0.0	T	0.12041	-1.0563	10	0.23891	T	0.37	.	6.6845	0.23138	0.0:0.706:0.1457:0.1483	.	768	Q9Y5S2	MRCKB_HUMAN	I	768	ENSP00000355237:M768I	ENSP00000355237:M768I	M	-	3	0	CDC42BPB	102504385	1.000000	0.71417	0.251000	0.24312	0.079000	0.17450	0.811000	0.27198	0.461000	0.27071	0.561000	0.74099	ATG		TCGA-LB-A9Q5-01A-11D-A397-08	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	0	0	0	7	411	0	130	1	1.739033e-01	5	34	0	130	2		0	0	0	0	1	2	1	0.979955	7	406	0	129	2		0	0	0	0	0	2	-2.908334	1	1	0	0		1	1	2	3	2.005282	0	0.240000	2	0.241820	0.140000	0.060000	0.300000	0.140000	0.166167	0.140000	0	0.090000	0.210000
SMEK1	55671	broad.mit.edu	37	14	91931722	91931722	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr14:91931722C>T	ENST00000554943.1	-	11	1817	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K	SMEK1_ENST00000428424.2_Missense_Mutation_p.E329K|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000555462.1_Missense_Mutation_p.E329K|SMEK1_ENST00000337238.4_Missense_Mutation_p.E555K|SMEK1_ENST00000554684.1_Missense_Mutation_p.E555K			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)			6		all_cancers(154;0.0691)|all_epithelial(191;0.219)			TTGTAAAACTCATCTTTTAAT	0.358000																								0							SO:0001583	missense			ENST00000554943.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	17.96	3.516739	0.64634	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390	T;T;D;T;D;T	0.95001	1.58;1.58;-3.58;1.58;-3.58;1.58	6.15	6.15	0.99193	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.96830	0.8965	M	0.63208	1.945	0.80722	D	1	D;D;D	0.63880	0.974;0.993;0.99	D;P;P	0.70487	0.969;0.901;0.907	D	0.95808	0.8839	10	0.48119	T	0.1	-15.5476	20.8387	0.99724	0.0:1.0:0.0:0.0	.	329;568;555	Q6IN85-4;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	K	555;555;329;568;329;555	ENSP00000450864:E555K;ENSP00000337125:E555K;ENSP00000392704:E329K;ENSP00000450883:E568K;ENSP00000450891:E329K;ENSP00000452596:E555K	ENSP00000337125:E555K	E	-	1	0	SMEK1	91001475	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	7.811000	0.86092	2.932000	0.99384	0.643000	0.83706	GAG		TCGA-LB-A9Q5-01A-11D-A397-08	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	0	0	1	10	293	0	97	1	2.810018e-01	8	21	0	97	2		0	0	0	0	0	2	1	0.996854	10	290	0	96	2		0	0	0	0	0	2	-3.228879	1	1	0	0		1	1	2	3	2.005282	0	0.240000	2	0.241820	0.280000	0.140000	0.520000	0.270000	0.305035	0.280000	0	0.200000	0.390000
CHRNB4	1143	broad.mit.edu	37	15	78922232	78922232	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr15:78922232C>T	ENST00000261751.3	-	5	526	c.415G>A	c.(415-417)Ggc>Agc	p.G139S	RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000560511.1_5'Flank|CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	p.G139C(1)|p.G139S(1)		22				Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	AGGACGCTGCCGTTGGACCGG	0.572000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000261751.3	0	1	hg19	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783372	0.70222	.	.	ENSG00000117971	ENST00000261751	D	0.97352	-4.35	4.97	4.97	0.65823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.98924	0.9635	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99636	1.0987	10	0.72032	D	0.01	.	18.2167	0.89887	0.0:1.0:0.0:0.0	.	139	P30926	ACHB4_HUMAN	S	139	ENSP00000261751:G139S	ENSP00000261751:G139S	G	-	1	0	CHRNB4	76709287	1.000000	0.71417	0.956000	0.39512	0.065000	0.16274	7.766000	0.85320	2.301000	0.77427	0.655000	0.94253	GGC		TCGA-LB-A9Q5-01A-11D-A397-08	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1	0	0	0	6	193	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	0.964573	6	191	0	62	2		0	0	0	0	0	2	-2.882874	1	1	0	0		1	1	2	3	2.026427	0	0.240000	2	0.251674	0.280000	0.110000	1.000000	0.250000	0.364326	0.280000	0	0.180000	0.470000
DET1	55070	broad.mit.edu	37	15	89074164	89074164	+	Missense_Mutation	SNP	C	C	T	rs138430376	by1000genomes	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr15:89074164C>T	ENST00000268148.8	-	2	918	c.773G>A	c.(772-774)cGc>cAc	p.R258H	DET1_ENST00000564406.1_Missense_Mutation_p.R269H|DET1_ENST00000559656.1_5'Flank|DET1_ENST00000444300.1_Missense_Mutation_p.R269H|DET1_ENST00000558413.1_3'UTR	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)			23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)		ATAGCAAAAGCGGCCAATGGT	0.507000																								0							SO:0001583	missense			ENST00000268148.8	1	1	hg19	CCDS45344.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	23.0	4.364477	0.82463	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	6.17	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.78892	0.4355	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80455	-0.1375	9	0.49607	T	0.09	-36.1175	14.418	0.67163	0.0:0.9302:0.0:0.0698	.	258;269	Q7L5Y6;B3KNN6	DET1_HUMAN;.	H	269;258	.	ENSP00000268148:R258H	R	-	2	0	DET1	86875168	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.213000	0.77950	1.620000	0.50308	0.655000	0.94253	CGC		TCGA-LB-A9Q5-01A-11D-A397-08	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2	1	0	1	29	249	0	61	0	1.302495e-01	1	5	0	61	2		0	0	0	0	0	2	1	1.000000	29	249	0	60	2		0	0	0	0	0	2	-20.000000	1	1	120958	1	35	1	1	2	3	2.026427	0	0.240000	2	0.251674	0.900000	0.610000	1.000000	1.000000	0.885543	0.900000	1	0.740000	1.000000
C16orf62	57020	broad.mit.edu	37	16	19680556	19680556	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:19680556C>T	ENST00000251143.5	+	27	2308	c.2296C>T	c.(2296-2298)Cgg>Tgg	p.R766W	C16orf62_ENST00000448695.1_Missense_Mutation_p.R616W|C16orf62_ENST00000543152.1_Missense_Mutation_p.R515W|C16orf62_ENST00000438132.3_Missense_Mutation_p.R855W|C16orf62_ENST00000417362.2_Missense_Mutation_p.R673W|C16orf62_ENST00000542263.1_Missense_Mutation_p.R762W			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62			36					TGGGAAGATGCGGCCATCGGA	0.418000																								0							SO:0001583	missense			ENST00000251143.5	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	20.5	3.995543	0.74703	.	.	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362;ENST00000448695	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.51	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.64091	0.2567	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	T	0.65113	-0.6247	9	.	.	.	-17.7679	15.8043	0.78481	0.1365:0.8635:0.0:0.0	.	762;766	F5H7K1;Q7Z3J2	.;CP062_HUMAN	W	855;762;766;673;616	ENSP00000400815:R855W;ENSP00000442468:R762W;ENSP00000251143:R766W;ENSP00000395973:R673W;ENSP00000398009:R616W	.	R	+	1	2	C16orf62	19588057	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	4.337000	0.59310	2.604000	0.88044	0.644000	0.83932	CGG		TCGA-LB-A9Q5-01A-11D-A397-08	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	0	5	298	0	103	0	2.584223e-01	0	50	0	103	2		0	0	0	0	0	2	1	0.937504	5	297	0	103	2		0	0	0	0	0	2	-2.428440	0	1	0	0		1	1	2	3	2.009028	0	0.240000	2	0.243631	0.150000	0.050000	1.000000	0.140000	0.187131	0.150000	0	0.090000	0.240000
PKD1	5310	broad.mit.edu	37	16	2160250	2160250	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:2160250C>T	ENST00000262304.4	-	15	5126	c.4918G>A	c.(4918-4920)Ggt>Agt	p.G1640S	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.G1640S	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)			72					TAGCGGCCACCGCCCACCACC	0.617000																								0							SO:0001583	missense			ENST00000262304.4	0	1	hg19	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	3.215	-0.160795	0.06502	.	.	ENSG00000008710	ENST00000262304;ENST00000423118	T;T	0.57907	0.37;0.37	5.3	4.35	0.52113	Polycystin cation channel (1);PKD domain (1);	0.226336	0.45606	D	0.000350	T	0.35189	0.0923	L	0.44542	1.39	0.09310	N	1	P;P	0.46020	0.871;0.683	B;B	0.32805	0.144;0.153	T	0.17531	-1.0366	10	0.22706	T	0.39	.	8.5645	0.33531	0.1357:0.7246:0.0:0.1397	.	1640;1640	P98161-3;P98161	.;PKD1_HUMAN	S	1640	ENSP00000262304:G1640S;ENSP00000399501:G1640S	ENSP00000262304:G1640S	G	-	1	0	PKD1	2100251	0.001000	0.12720	0.018000	0.16275	0.014000	0.08584	0.784000	0.26816	0.642000	0.30620	-1.611000	0.00801	GGT		TCGA-LB-A9Q5-01A-11D-A397-08	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1	1	0	0	21	175	0	51	1	3.070657e-01	3	7	0	51	2		0	0	0	0	0	2	1	0.999971	16	132	0	51	2		0	0	0	0	0	2	-3.222029	1	1	120180	3	35	1	1	2	3	2.082312	0	0.240000	2	0.256942	0.950000	0.600000	1.000000	1.000000	0.902585	0.950000	1	0.760000	1.000000
MLKL	197259	broad.mit.edu	37	16	74729301	74729301	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:74729301C>G	ENST00000308807.7	-	2	818	c.355G>C	c.(355-357)Gag>Cag	p.E119Q	MLKL_ENST00000306247.7_Missense_Mutation_p.E119Q	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like			19					ATGCGTTGCTCAACCTGAAGT	0.517000																								0							SO:0001583	missense			ENST00000308807.7	1	1	hg19	CCDS32487.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.426535	0.25726	.	.	ENSG00000168404	ENST00000308807;ENST00000306247	T;T	0.80214	-1.35;2.34	4.28	-8.57	0.00900	.	0.814893	0.10962	N	0.614861	T	0.57198	0.2037	N	0.24115	0.695	0.09310	N	1	P;P	0.42078	0.77;0.702	B;B	0.38712	0.28;0.217	T	0.54794	-0.8240	10	0.33940	T	0.23	1.4392	4.0588	0.09829	0.4262:0.1834:0.3155:0.075	.	119;119	Q8NB16-2;Q8NB16	.;MLKL_HUMAN	Q	119	ENSP00000308351:E119Q;ENSP00000303118:E119Q	ENSP00000303118:E119Q	E	-	1	0	MLKL	73286802	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	-0.375000	0.07475	-1.935000	0.01049	-1.051000	0.02340	GAG		TCGA-LB-A9Q5-01A-11D-A397-08	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	0	0	0	18	485	0	158	1	1.097012e-01	3	12	0	158	2		0	0	0	0	0	2	1	0.999982	18	482	0	158	2		0	0	0	0	0	2	-2.887884	1	1	0	0		1	1	2	3	2.004723	0	0.240000	2	0.241820	0.300000	0.180000	0.480000	0.300000	0.319064	0.300000	0	0.230000	0.380000
KRT24	192666	broad.mit.edu	37	17	38859689	38859689	+	Missense_Mutation	SNP	C	C	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:38859689C>A	ENST00000264651.2	-	1	313	c.257G>T	c.(256-258)gGa>gTa	p.G86V		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24			29		Breast(137;0.00526)			CCCACCAAATCCTGTCCCAGA	0.582000													GBM(61;380 1051 14702 23642 31441)											0							SO:0001583	missense			ENST00000264651.2	1	1	hg19	CCDS11372.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600770	0.46423	.	.	ENSG00000167916	ENST00000264651	D	0.90385	-2.66	5.32	4.35	0.52113	.	.	.	.	.	D	0.92322	0.7564	L	0.57536	1.79	0.53005	D	0.999968	D	0.69078	0.997	D	0.63597	0.916	D	0.89764	0.3949	9	0.13853	T	0.58	.	13.4064	0.60915	0.0:0.9241:0.0:0.0759	.	86	Q2M2I5	K1C24_HUMAN	V	86	ENSP00000264651:G86V	ENSP00000264651:G86V	G	-	2	0	KRT24	36113215	0.014000	0.17966	0.115000	0.21578	0.002000	0.02628	1.059000	0.30517	1.381000	0.46364	-0.258000	0.10820	GGA		TCGA-LB-A9Q5-01A-11D-A397-08	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	0	0	0	19	539	0	150		0	0	0	0	150	2		0	0	0	0	0	2	1	0.999981	15	500	0	139	2		0	0	0	0	0	2	-3.757956	1	1	0	0		1	1	2	3	2.071928	0	0.240000	2	0.255194	0.300000	0.180000	1.000000	0.290000	0.394584	0.300000	0	0.230000	0.440000
WFIKKN2	124857	broad.mit.edu	37	17	48917415	48917415	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:48917415C>T	ENST00000311378.4	+	2	1294	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R163W|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2			29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		TGTGGTCATGCGGCCCAACCA	0.602000																								0							SO:0001583	missense			ENST00000311378.4	0	1	hg19	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.350274	0.41599	0.0	1.16E-4	ENSG00000173714	ENST00000426127;ENST00000311378	D;D	0.96041	-3.89;-3.89	5.44	-7.01	0.01594	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.296278	0.33772	N	0.004575	D	0.90542	0.7036	M	0.72479	2.2	0.41747	D	0.989648	B	0.21147	0.052	B	0.14578	0.011	T	0.69250	-0.5194	10	0.59425	D	0.04	.	3.756	0.08585	0.5443:0.1895:0.0762:0.19	.	256	Q8TEU8	WFKN2_HUMAN	W	163;256	ENSP00000405889:R163W;ENSP00000311184:R256W	ENSP00000311184:R256W	R	+	1	2	WFIKKN2	46272414	0.810000	0.29049	0.874000	0.34290	0.986000	0.74619	0.008000	0.13197	-1.163000	0.02793	-0.142000	0.14014	CGG		TCGA-LB-A9Q5-01A-11D-A397-08	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	0	0	0	5	285	0	81	0	0	0	1	0	81	2		0	0	0	0	0	2	1	0.935771	5	281	0	81	2		0	0	0	0	0	2	-2.623366	1	1	121412	4	38	1	1	2	3	2.202187	1	0.240000	2	0.314821	0.180000	0.060000	1.000000	0.150000	0.247524	0.180000	0	0.110000	0.290000
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*	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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	ACACTATGTCGAAAAGTGTTT	0.532000		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	333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	GRCh37	CM951226	TP53	M		SO:0001587	stop_gained	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	0	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		TCGA-LB-A9Q5-01A-11D-A397-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	0	10	171	0	42	0	3.583846e-01	0	21	0	42	2	1	1	49	1360	0	1732	2	1	0.997049	10	170	0	42	2		0	0	0	0	0	2	-4.874490	1	1	121412	1	30	1	0	0	0	1.952837	0	0.240000	2	0.219392	0.450000	0.230000	0.760000	0.440000	0.478078	0.450000	0	0.330000	0.610000
FASN	2194	broad.mit.edu	37	17	80046303	80046303	+	Silent	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:80046303G>A	ENST00000306749.2	-	16	2774	c.2556C>T	c.(2554-2556)aaC>aaT	p.N852N		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase			34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)	Cerulenin(DB01034)|Orlistat(DB01083)	AACCTGAACCGTTGGGGAAGT	0.667000													Colon(59;314 1043 11189 28578 32273)											0							SO:0001819	synonymous_variant			ENST00000306749.2	1	1	hg19	CCDS11801.1																																																																																				TCGA-LB-A9Q5-01A-11D-A397-08	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	1	0	0	5	144	0	31	0	1.111136e-01	0	14	0	31	2		0	0	0	0	0	2	1	0.935245	4	142	0	28	2		0	0	0	0	0	2	-7.377589	1	1	120858	4	36	1	0	0	0	1.943218	0	0.240000	2	0.215524	0.290000	0.110000	0.570000	0.260000	0.313007	0.290000	0	0.180000	0.430000
THOC1	9984	broad.mit.edu	37	18	264052	264052	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr18:264052G>A	ENST00000261600.6	-	4	237	c.230C>T	c.(229-231)tCt>tTt	p.S77F	THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1			20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)			AATAGCAAGAGAAATAATAGC	0.343000																								0							SO:0001583	missense			ENST00000261600.6	0	1	hg19	CCDS45820.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.671815	0.29693	.	.	ENSG00000079134	ENST00000261600	.	.	.	6.17	6.17	0.99709	.	0.057850	0.64402	D	0.000001	T	0.65281	0.2676	L	0.58810	1.83	0.50313	D	0.999862	B;P	0.34864	0.418;0.473	B;B	0.36666	0.147;0.23	T	0.65894	-0.6057	9	0.87932	D	0	-13.7479	20.4898	0.99202	0.0:0.0:1.0:0.0	.	77;77	Q96FV9-2;Q96FV9	.;THOC1_HUMAN	F	77	.	ENSP00000261600:S77F	S	-	2	0	THOC1	254052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.323000	0.65858	2.941000	0.99782	0.655000	0.94253	TCT		TCGA-LB-A9Q5-01A-11D-A397-08	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	0	0	0	4	101	0	19	1	1.132422e-01	4	8	0	19	2		0	0	0	0	0	2	1	0.891773	4	101	0	19	2		0	0	0	0	0	2	-7.288534	1	1	120796	1	21	1	0	0	0	1.985920	0	0.240000	2	0.232633	0.340000	0.110000	0.710000	0.310000	0.373508	0.340000	0	0.210000	0.520000
SMAD4	4089	broad.mit.edu	37	18	48593400	48593400	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr18:48593400G>A	ENST00000342988.3	+	10	1689	c.1151G>A	c.(1150-1152)gGc>gAc	p.G384D	SMAD4_ENST00000588745.1_Missense_Mutation_p.G288D|SMAD4_ENST00000398417.2_Missense_Mutation_p.G384D	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	p.0?(36)|p.?(2)		454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)			TTGCACATAGGCAAAGGTGTG	0.348000																								38	Whole gene deletion(36)|Unknown(2)						SO:0001583	missense			ENST00000342988.3	1	1	hg19	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969730	0.92855	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98849	-5.18;-5.18	5.5	5.5	0.81552	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.046327	0.85682	D	0.000000	D	0.99384	0.9783	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98789	1.0735	10	0.87932	D	0	.	18.1843	0.89788	0.0:0.0:1.0:0.0	.	384	Q13485	SMAD4_HUMAN	D	384	ENSP00000341551:G384D;ENSP00000381452:G384D	ENSP00000341551:G384D	G	+	2	0	SMAD4	46847398	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.759000	0.98931	2.581000	0.87130	0.563000	0.77884	GGC		TCGA-LB-A9Q5-01A-11D-A397-08	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	1	0	0	23	355	0	129	1	4.688237e-01	2	23	0	129	2	1	9.999999e-01	22	654	1	824	5	1	0.999999	22	353	0	127	2		0	0	0	0	0	2	-6.249517	1	1	0	0		1	0	0	0	1.985920	0	0.240000	2	0.232633	0.500000	0.320000	0.720000	0.500000	0.516725	0.500000	0	0.400000	0.610000
ABCA7	10347	broad.mit.edu	37	19	1046233	1046233	+	Missense_Mutation	SNP	T	T	G			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:1046233T>G	ENST00000263094.6	+	13	1681	c.1450T>G	c.(1450-1452)Tgg>Ggg	p.W484G	ABCA7_ENST00000433129.1_Missense_Mutation_p.W484G|ABCA7_ENST00000435683.2_Missense_Mutation_p.W346G|ABCA7_ENST00000533574.1_3'UTR	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7			65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)			TCGCAGGTTTTGGGACCCTGG	0.642000																								0							SO:0001583	missense			ENST00000263094.6	0	1	hg19	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	t	17.54	3.414745	0.62511	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.94828	-3.53;-3.53	4.95	4.95	0.65309	.	.	.	.	.	D	0.96787	0.8951	M	0.79123	2.44	0.46356	D	0.999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.97146	0.9828	9	0.72032	D	0.01	.	12.5427	0.56182	0.0:0.0:0.0:1.0	.	346;484	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	G	484	ENSP00000263094:W484G;ENSP00000414062:W484G	ENSP00000263094:W484G	W	+	1	0	ABCA7	997233	1.000000	0.71417	1.000000	0.80357	0.457000	0.32468	7.869000	0.87170	1.858000	0.53909	0.454000	0.30748	TGG		TCGA-LB-A9Q5-01A-11D-A397-08	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	0	0	0	5	708	0	198	0	8.022725e-04	0	5	0	198	2		0	0	0	0	0	2	1	0.935145	5	697	0	197	2		0	0	0	0	0	2	-2.623801	1	1	0	0		1	1	2	3	2.006579	0	0.240000	2	0.243631	0.060000	0.010000	1.000000	0.060000	0.096715	0.060000	0	0.030000	0.100000
CPAMD8	27151	broad.mit.edu	37	19	17038840	17038840	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:17038840G>A	ENST00000443236.1	-	25	3521	c.3490C>T	c.(3490-3492)Cga>Tga	p.R1164*		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8			82					GCGGTGGCTCGCTCAGACCCA	0.617000																								0							SO:0001587	stop_gained			ENST00000443236.1	0	1	hg19	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	G	38	6.940580	0.97952	.	.	ENSG00000160111	ENST00000291440	.	.	.	3.02	1.9	0.25705	.	0.311950	0.27861	U	0.017554	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.8107	0.29230	0.0:0.0:0.3646:0.6354	.	.	.	.	X	1164	.	ENSP00000291440:R1164X	R	-	1	2	CPAMD8	16899840	1.000000	0.71417	0.658000	0.29665	0.098000	0.18820	5.239000	0.65371	1.237000	0.43756	0.655000	0.94253	CGA		TCGA-LB-A9Q5-01A-11D-A397-08	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	0	0	0	8	292	0	108	0	0	0	1	0	108	2		0	0	0	0	0	2	1	0.989480	8	291	0	103	2		0	0	0	0	0	2	-3.031449	1	1	120932	2	34	1	1	2	3	2.006579	0	0.240000	2	0.243631	0.230000	0.100000	1.000000	0.220000	0.268638	0.230000	0	0.160000	0.340000
TICAM1	148022	broad.mit.edu	37	19	4816396	4816396	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:4816396G>A	ENST00000248244.5	-	2	2223	c.1994C>T	c.(1993-1995)aCg>aTg	p.T665M		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1			26					GGGTGAGGCCGTAGGGAAGGC	0.662000																								0							SO:0001583	missense			ENST00000248244.5	0	1	hg19	CCDS12136.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273697	0.40194	.	.	ENSG00000127666	ENST00000248244	T	0.44881	0.91	4.68	-0.218	0.13142	.	.	.	.	.	T	0.22742	0.0549	N	0.14661	0.345	0.09310	N	1	B	0.21071	0.051	B	0.18561	0.022	T	0.20907	-1.0261	9	0.66056	D	0.02	-3.7983	5.0671	0.14587	0.1798:0.0:0.4884:0.3319	.	665	Q8IUC6	TCAM1_HUMAN	M	665	ENSP00000248244:T665M	ENSP00000248244:T665M	T	-	2	0	TICAM1	4767396	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.115000	0.03289	0.056000	0.16144	-0.258000	0.10820	ACG		TCGA-LB-A9Q5-01A-11D-A397-08	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1	0	0	0	5	206	1	56	0	3.371319e-02	0	71	1	56	6		0	0	0	0	0	2	0	0.026160	6	202	1	55	14		0	0	0	0	0	2	-3.554586	1	1	121306	1	35	1	1	2	3	2.006579	0	0.240000	2	0.243631	0.210000	0.080000	1.000000	0.200000	0.254509	0.210000	0	0.130000	0.340000
NLRP8	126205	broad.mit.edu	37	19	56466067	56466067	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:56466067G>A	ENST00000291971.3	+	3	714	c.643G>A	c.(643-645)Gga>Aga	p.G215R	NLRP8_ENST00000590542.1_Missense_Mutation_p.G215R	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8			35		Colorectal(82;0.000147)|Ovarian(87;0.17)			TCCTGGGATCGGAAAAACAAT	0.527000																								0							SO:0001583	missense			ENST00000291971.3	1	1	hg19	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.275207	0.40194	0.0	1.16E-4	ENSG00000179709	ENST00000291971	D	0.90133	-2.62	2.04	0.899	0.19271	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.94450	0.8214	M	0.87971	2.92	0.19775	N	0.999955	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85201	0.1015	9	0.87932	D	0	.	5.4852	0.16745	0.0:0.0:0.6708:0.3292	.	215;215	Q86W28-2;Q86W28	.;NALP8_HUMAN	R	215	ENSP00000291971:G215R	ENSP00000291971:G215R	G	+	1	0	NLRP8	61157879	1.000000	0.71417	0.002000	0.10522	0.061000	0.15899	4.154000	0.58125	0.368000	0.24481	0.514000	0.50259	GGA		TCGA-LB-A9Q5-01A-11D-A397-08	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	0	0	0	11	294	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	0.998414	11	294	0	74	2		0	0	0	0	0	2	-2.778457	1	1	121412	2	34	1	1	2	3	2.012356	0	0.240000	2	0.244533	0.310000	0.160000	1.000000	0.300000	0.350037	0.310000	0	0.230000	0.430000
ZNF584	201514	broad.mit.edu	37	19	58928643	58928643	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:58928643G>A	ENST00000306910.4	+	4	1281	c.758G>A	c.(757-759)cGc>cAc	p.R253H	ZNF584_ENST00000593920.1_Missense_Mutation_p.R208H|CTD-2619J13.16_ENST00000596296.1_lincRNA|ZNF584_ENST00000599238.1_3'UTR	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584			14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)			ACCTTCAACCGCAAAGACGCA	0.463000																								0							SO:0001583	missense			ENST00000306910.4	0	1	hg19	CCDS12979.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.442947	0.25987	.	.	ENSG00000171574	ENST00000306910;ENST00000354635	T	0.36340	1.26	3.78	1.63	0.23807	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26991	0.0661	L	0.50333	1.59	0.09310	N	1	B	0.25955	0.138	B	0.22880	0.042	T	0.27157	-1.0082	9	0.13108	T	0.6	.	7.1665	0.25693	0.227:0.0:0.773:0.0	.	253	Q8IVC4	ZN584_HUMAN	H	253;112	ENSP00000306756:R253H	ENSP00000306756:R253H	R	+	2	0	ZNF584	63620455	0.000000	0.05858	1.000000	0.80357	0.863000	0.49368	-1.284000	0.02793	0.389000	0.25086	0.555000	0.69702	CGC		TCGA-LB-A9Q5-01A-11D-A397-08	ZNF584-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467022.1	0	0	0	5	277	1	90	0	2.013852e-02	0	10	1	90	2		0	0	0	0	0	2	0	0.066749	5	276	1	90	12		0	0	0	0	0	2	-2.986411	1	1	0	0		1	1	2	3	2.012356	0	0.240000	2	0.244533	0.160000	0.050000	1.000000	0.150000	0.206501	0.160000	0	0.100000	0.260000
CELSR2	1952	broad.mit.edu	37	1	109808777	109808777	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:109808777C>T	ENST00000271332.3	+	15	6023	c.5962C>T	c.(5962-5964)Cgt>Tgt	p.R1988C		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2			82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)			CTGGTGGCCCCGTACCCGCTT	0.617000													NSCLC(158;1285 2011 34800 34852 42084)											0							SO:0001583	missense			ENST00000271332.3	1	1	hg19	CCDS796.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182257	0.78677	2.27E-4	0.0	ENSG00000143126	ENST00000271332	T	0.70631	-0.5	4.6	4.6	0.57074	GPCR, family 2, extracellular hormone receptor domain (2);	.	.	.	.	D	0.82309	0.5009	M	0.83384	2.64	0.58432	D	0.999999	D	0.89917	1.0	D	0.67382	0.951	D	0.85520	0.1203	9	0.87932	D	0	.	17.6074	0.88042	0.0:1.0:0.0:0.0	.	1988	Q9HCU4	CELR2_HUMAN	C	1988	ENSP00000271332:R1988C	ENSP00000271332:R1988C	R	+	1	0	CELSR2	109610300	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.958000	0.70330	2.387000	0.81309	0.462000	0.41574	CGT		TCGA-LB-A9Q5-01A-11D-A397-08	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	1	0	0	15	327	0	86	0	1.281700e-02	0	4	0	86	2		0	0	0	0	0	2	1	0.999875	15	325	0	84	2		0	0	0	0	0	2	-2.619703	1	1	121412	6	38	1	1	2	3	2.007491	0	0.240000	2	0.243631	0.370000	0.210000	1.000000	0.370000	0.403608	0.370000	0	0.280000	0.490000
RHOC	389	broad.mit.edu	37	1	113244218	113244218	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:113244218G>A	ENST00000285735.2	-	6	1735	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	RHOC_ENST00000369637.1_Missense_Mutation_p.R176W|RHOC_ENST00000369636.2_Silent_p.L155L|RP11-426L16.10_ENST00000471038.2_5'Flank|RHOC_ENST00000339083.7_Missense_Mutation_p.R176W|RHOC_ENST00000369633.2_Missense_Mutation_p.R176W|RHOC_ENST00000369632.2_Missense_Mutation_p.R176W|RHOC_ENST00000369642.3_Missense_Mutation_p.R176W|RHOC_ENST00000369638.2_Missense_Mutation_p.R176W			P08134	RHOC_HUMAN	ras homolog family member C			9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)			AGGCCAGCCCGAGTGGCCATC	0.617000																								0							SO:0001583	missense			ENST00000285735.2	1	1	hg19	CCDS854.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936495	0.73442	.	.	ENSG00000155366	ENST00000339083;ENST00000369633;ENST00000369642;ENST00000285735;ENST00000369638;ENST00000369637;ENST00000369632;ENST00000484054;ENST00000425265	T;T;T;T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	5.13	0.702	0.18110	.	.	.	.	.	T	0.76673	0.4020	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.80313	-0.1435	9	0.87932	D	0	-1.3188	14.0156	0.64523	0.0:0.0:0.4807:0.5193	.	176	P08134	RHOC_HUMAN	W	176;176;176;176;176;176;176;213;176	ENSP00000345236:R176W;ENSP00000358647:R176W;ENSP00000358656:R176W;ENSP00000285735:R176W;ENSP00000358652:R176W;ENSP00000358651:R176W;ENSP00000358646:R176W;ENSP00000434877:R213W;ENSP00000390823:R176W	ENSP00000285735:R176W	R	-	1	2	RHOC	113045741	0.990000	0.36364	0.990000	0.47175	0.998000	0.95712	2.208000	0.42797	0.157000	0.19338	0.563000	0.77884	CGG		TCGA-LB-A9Q5-01A-11D-A397-08	RHOC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032904.2	1	0	1	22	398	0	98	1	1	257	641	0	98	2		0	0	0	0	0	2	1	0.999999	22	396	0	97	2		0	0	0	0	0	2	-2.921064	1	1	0	0		1	1	2	3	2.007491	0	0.240000	2	0.243631	0.440000	0.280000	1.000000	0.440000	0.468746	0.440000	0	0.350000	0.560000
POLR3C	10623	broad.mit.edu	37	1	145608249	145608249	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:145608249G>A	ENST00000334163.3	-	4	608	c.448C>T	c.(448-450)Cga>Tga	p.R150*	RNF115_ENST00000369291.5_5'Flank|POLR3C_ENST00000471254.1_5'UTR|POLR3C_ENST00000369294.1_Nonsense_Mutation_p.R150*	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)			25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)		TCTGCCAGTCGCACAAATGTG	0.498000																								0							SO:0001587	stop_gained			ENST00000334163.3	0	1	hg19	CCDS921.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.884789	0.72410	0.0	1.16E-4	ENSG00000186141	ENST00000334163;ENST00000369294	.	.	.	5.62	4.69	0.59074	.	0.193584	0.43919	D	0.000517	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7899	13.4388	0.61101	0.0:0.0:0.8418:0.1582	.	.	.	.	X	150	.	ENSP00000334564:R150X	R	-	1	2	POLR3C	144319606	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	3.850000	0.55918	1.325000	0.45301	0.655000	0.94253	CGA		TCGA-LB-A9Q5-01A-11D-A397-08	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038542.1	0	0	0	5	296	0	89	0	9.301031e-02	0	25	0	89	2		0	0	0	0	0	2	1	0.937504	5	295	0	88	2		0	0	0	0	0	2	-2.594287	1	1	121412	6	39	1	1	2	3	2.083156	0	0.240000	2	0.256942	0.160000	0.050000	1.000000	0.140000	0.288292	0.160000	0	0.100000	0.340000
FLG	2312	broad.mit.edu	37	1	152282617	152282617	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:152282617G>A	ENST00000368799.1	-	3	4780	c.4745C>T	c.(4744-4746)gCg>gTg	p.A1582V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin			424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)		CTTGGACCCCGCTGATTCTCC	0.607000									Ichthyosis															0							SO:0001583	missense	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	ENST00000368799.1	0	1	hg19	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	9.786	1.176695	0.21704	.	.	ENSG00000143631	ENST00000368799	T	0.01705	4.68	2.74	-4.7	0.03288	.	.	.	.	.	T	0.00412	0.0013	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46938	-0.9155	9	0.28530	T	0.3	.	0.7528	0.00993	0.3328:0.1614:0.3415:0.1644	.	1582	P20930	FILA_HUMAN	V	1582	ENSP00000357789:A1582V	ENSP00000357789:A1582V	A	-	2	0	FLG	150549241	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.013000	0.00160	-1.202000	0.02655	-3.061000	0.00068	GCG		TCGA-LB-A9Q5-01A-11D-A397-08	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	0	0	0	6	895	0	240		0	0	0	0	240	2		0	0	0	0	0	2	1	0.963793	6	885	0	237	2		0	0	0	0	0	2	-1.781269	0	1	0	0		1	1	2	3	2.083156	0	0.240000	2	0.256942	0.060000	0.010000	1.000000	0.060000	0.201741	0.060000	0	0.030000	0.130000
OR10K1	391109	broad.mit.edu	37	1	158435396	158435396	+	Silent	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:158435396C>T	ENST00000289451.2	+	1	125	c.45C>T	c.(43-45)ctC>ctT	p.L15L		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1			27	all_hematologic(112;0.0378)				TCGTCGTCCTCGGCTTCTCAT	0.507000																								0							SO:0001819	synonymous_variant			ENST00000289451.2	1	1	hg19	CCDS30897.1																																																																																				TCGA-LB-A9Q5-01A-11D-A397-08	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1	0	0	0	12	232	0	81		0	0	0	0	81	2		0	0	0	0	0	2	1	0.999142	12	230	0	81	2		0	0	0	0	0	2	-2.961561	1	1	121412	1	28	1	1	2	3	2.083156	0	0.240000	2	0.256942	0.450000	0.240000	1.000000	0.410000	0.525801	0.450000	0	0.330000	0.730000
ATP13A2	23400	broad.mit.edu	37	1	17313653	17313653	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:17313653G>A	ENST00000326735.8	-	26	3004	c.2971C>T	c.(2971-2973)Cgg>Tgg	p.R991W	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.R947W|ATP13A2_ENST00000452699.1_Missense_Mutation_p.R986W			Q9NQ11	AT132_HUMAN	ATPase type 13A2			32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)			CCCGGTGGCCGCACCCGTCCC	0.687000																								0							SO:0001583	missense			ENST00000326735.8	0	1	hg19	CCDS175.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745542	0.69418	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699;ENST00000502418	D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.37	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.95510	0.8541	M	0.92219	3.285	0.45806	D	0.998684	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.995	D	0.96317	0.9233	10	0.87932	D	0	-37.805	14.0426	0.64687	0.0:0.0:1.0:0.0	.	947;986;991	Q5JXY1;Q6S9Z9;Q9NQ11	.;.;AT132_HUMAN	W	991;947;986;187	ENSP00000327214:R991W;ENSP00000341115:R947W;ENSP00000413307:R986W;ENSP00000423065:R187W	ENSP00000327214:R991W	R	-	1	2	ATP13A2	17186240	1.000000	0.71417	0.993000	0.49108	0.482000	0.33219	5.012000	0.64017	2.390000	0.81377	0.561000	0.74099	CGG		TCGA-LB-A9Q5-01A-11D-A397-08	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	0	0	0	4	152	0	45	0	8.600144e-01	0	138	0	45	2		0	0	0	0	0	2	1	0.888342	4	150	0	44	2		0	0	0	0	0	2	-6.088020	1	1	121340	4	34	1	0	1	1	1.988550	0	0.240000	2	0.235412	0.230000	0.070000	0.490000	0.210000	0.256707	0.230000	0	0.140000	0.360000
PKP1	5317	broad.mit.edu	37	1	201252975	201252975	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:201252975G>A	ENST00000352845.3	+	1	145	c.145G>A	c.(145-147)Gtc>Atc	p.V49I	PKP1_ENST00000263946.3_Missense_Mutation_p.V49I|PKP1_ENST00000367324.3_Missense_Mutation_p.V49I			Q13835	PKP1_HUMAN	plakophilin 1			22					GATGATGACCGTCAAGCGGCA	0.612000																								0							SO:0001583	missense			ENST00000352845.3	1	1	hg19	CCDS30966.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274211	0.80580	.	.	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.37915	1.17;1.17;1.17	4.93	4.93	0.64822	.	0.260506	0.26153	N	0.026030	T	0.43853	0.1266	N	0.17082	0.46	0.41428	D	0.987843	D;D	0.71674	0.998;0.961	D;B	0.71184	0.972;0.245	T	0.45687	-0.9244	10	0.45353	T	0.12	-19.2651	16.3155	0.82918	0.0:0.0:1.0:0.0	.	49;49	Q13835-2;Q13835	.;PKP1_HUMAN	I	49	ENSP00000356293:V49I;ENSP00000263946:V49I;ENSP00000295597:V49I	ENSP00000263946:V49I	V	+	1	0	PKP1	199519598	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.458000	0.60095	2.278000	0.76064	0.655000	0.94253	GTC		TCGA-LB-A9Q5-01A-11D-A397-08	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	0	0	0	8	211	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	0.989363	8	209	0	53	2		0	0	0	0	0	2	-3.175439	1	1	0	0		1	1	2	3	2.083156	0	0.240000	2	0.256942	0.350000	0.150000	1.000000	0.310000	0.438161	0.350000	0	0.230000	0.620000
OR2M5	127059	broad.mit.edu	37	1	248309257	248309257	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:248309257C>T	ENST00000366476.1	+	1	808	c.808C>T	c.(808-810)Cag>Tag	p.Q270*		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5			49	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;0.0388)		CTCCCCTATGCAGGACAAGCT	0.512000																								0							SO:0001587	stop_gained			ENST00000366476.1	0	1	hg19	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	c	10.73	1.432018	0.25813	.	.	ENSG00000162727	ENST00000366476	.	.	.	3.15	-2.55	0.06288	.	.	.	.	.	.	.	.	.	.	.	0.48135	D	0.999598	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	2.4525	0.04522	0.2978:0.3147:0.2927:0.0948	.	.	.	.	X	270	.	ENSP00000355432:Q270X	Q	+	1	0	OR2M5	246375880	0.000000	0.05858	0.010000	0.14722	0.020000	0.10135	-1.939000	0.01545	-0.351000	0.08249	-0.565000	0.04167	CAG		TCGA-LB-A9Q5-01A-11D-A397-08	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	0	0	0	21	879	0	225		0	0	0	0	225	2		0	0	0	0	0	2	1	0.999997	21	870	0	223	2		0	0	0	0	0	2	-2.587653	1	1	0	0		1	1	2	3	2.078234	0	0.240000	2	0.256069	0.200000	0.120000	1.000000	0.200000	0.317264	0.200000	0	0.160000	0.300000
PHACTR3	116154	broad.mit.edu	37	20	58318299	58318299	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr20:58318299G>A	ENST00000371015.1	+	2	723	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	PHACTR3_ENST00000395639.4_Missense_Mutation_p.E45K|PHACTR3_ENST00000355648.4_Missense_Mutation_p.E45K|PHACTR3_ENST00000361300.4_Missense_Mutation_p.E45K|PHACTR3_ENST00000359926.3_Missense_Mutation_p.E83K|PHACTR3_ENST00000541461.1_Missense_Mutation_p.E45K|PHACTR3_ENST00000395636.2_Missense_Mutation_p.E45K	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3			59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		AAAGAAAAACGAAAAACTGAA	0.577000																								0							SO:0001583	missense			ENST00000371015.1	1	1	hg19	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	G	32	5.154383	0.94686	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.46063	1.21;1.15;0.88;1.24;1.24;1.24;0.88	4.26	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.63010	0.2475	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.76575	0.988;0.986;0.986	T	0.66670	-0.5865	10	0.51188	T	0.08	-17.4511	15.6464	0.77055	0.0:0.0:1.0:0.0	.	45;86;83	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	K	83;86;45;45;45;45;45	ENSP00000353002:E83K;ENSP00000360054:E86K;ENSP00000379001:E45K;ENSP00000442483:E45K;ENSP00000347866:E45K;ENSP00000378998:E45K;ENSP00000354555:E45K	ENSP00000347866:E45K	E	+	1	0	PHACTR3	57751694	1.000000	0.71417	0.934000	0.37439	0.898000	0.52572	9.593000	0.98250	1.910000	0.55303	0.462000	0.41574	GAA		TCGA-LB-A9Q5-01A-11D-A397-08	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	0	0	0	9	225	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	0.994372	9	224	0	61	2		0	0	0	0	0	2	-10.485810	1	1	0	0		1	1	2	3	2.002407	0	0.240000	2	0.241820	0.330000	0.160000	0.620000	0.310000	0.355606	0.330000	0	0.230000	0.460000
MICAL3	57553	broad.mit.edu	37	22	18301393	18301393	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr22:18301393C>T	ENST00000441493.2	-	26	4386	c.4034G>A	c.(4033-4035)cGc>cAc	p.R1345H	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3			4		all_epithelial(15;0.198)			CCCCTTGCTGCGGTCCACAGG	0.632000																								0							SO:0001583	missense			ENST00000441493.2	0	1	hg19	CCDS46659.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.14|18.14	3.557135|3.557135	0.65425|0.65425	.|.	.|.	ENSG00000093100|ENSG00000093100	ENST00000252134|ENST00000441493	.|T	.|0.78003	.|-1.14	4.74|4.74	4.74|4.74	0.60224|0.60224	.|.	.|.	.|.	.|.	.|.	D|D	0.86418|0.86418	0.5928|0.5928	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	D|D	0.86441|0.86441	0.1767|0.1767	5|9	.|0.44086	.|T	.|0.13	.|.	17.7462|17.7462	0.88421|0.88421	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1345	.|Q7RTP6	.|MICA3_HUMAN	T|H	327|1345	.|ENSP00000416015:R1345H	.|ENSP00000416015:R1345H	A|R	-|-	1|2	0|0	XXbac-B461K10.4|XXbac-B461K10.4	16681393|16681393	1.000000|1.000000	0.71417|0.71417	0.157000|0.157000	0.22605|0.22605	0.229000|0.229000	0.25112|0.25112	7.482000|7.482000	0.81143|0.81143	2.188000|2.188000	0.69820|0.69820	0.462000|0.462000	0.41574|0.41574	GCA|CGC		TCGA-LB-A9Q5-01A-11D-A397-08	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1	0	0	0	5	520	0	140	0	1.047194e-02	0	13	0	140	2		0	0	0	0	0	2	1	0.935918	5	514	0	140	2		0	0	0	0	0	2	-2.532073	1	1	120944	5	42	1	1	2	3	2.001304	0	0.240000	2	0.241820	0.080000	0.020000	0.200000	0.080000	0.103407	0.080000	0	0.050000	0.130000
UGGT1	56886	broad.mit.edu	37	2	128941276	128941276	+	Silent	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:128941276G>A	ENST00000259253.6	+	38	4319	c.4272G>A	c.(4270-4272)aaG>aaA	p.K1424K	UGGT1_ENST00000375990.3_Silent_p.K1400K	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1			63					ATCTGAAGAAGTTTAGGAAAA	0.423000																								0							SO:0001819	synonymous_variant			ENST00000259253.6	0	1	hg19	CCDS2154.1																																																																																				TCGA-LB-A9Q5-01A-11D-A397-08	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	0	0	0	5	176	0	43	0	2.587388e-01	0	30	0	43	2		0	0	0	0	0	2	1	0.935651	5	173	0	43	2		0	0	0	0	0	2	-7.303947	1	1	0	0		1	1	2	3	2.004620	0	0.240000	2	0.241820	0.250000	0.090000	0.550000	0.220000	0.276320	0.250000	0	0.150000	0.380000
CCDC74A	90557	broad.mit.edu	37	2	132290319	132290319	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:132290319G>A	ENST00000295171.6	+	5	979	c.841G>A	c.(841-843)Gag>Aag	p.E281K	CCDC74A_ENST00000409856.3_Missense_Mutation_p.E215K|CCDC74A_ENST00000467992.2_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A			19					GCTCATCCGCGAGCTGTGGAA	0.677000																								0							SO:0001583	missense			ENST00000295171.6	0	1	hg19	CCDS2167.1	.	.	.	.	.	.	.	.	.	.	.	10.85	1.466572	0.26335	.	.	ENSG00000163040	ENST00000295171;ENST00000409856	T;T	0.30448	1.53;1.53	2.66	1.74	0.24563	.	0.228610	0.22012	U	0.065844	T	0.13329	0.0323	N	0.08118	0	0.80722	D	1	B;B	0.31611	0.221;0.331	B;B	0.25614	0.026;0.062	T	0.09037	-1.0693	10	0.66056	D	0.02	.	7.4179	0.27055	0.0:0.7175:0.2825:0.0	.	215;281	Q96AQ1-2;Q96AQ1	.;CC74A_HUMAN	K	281;215	ENSP00000295171:E281K;ENSP00000387009:E215K	ENSP00000295171:E281K	E	+	1	0	CCDC74A	132006789	0.981000	0.34729	0.988000	0.46212	0.372000	0.29890	2.366000	0.44204	0.211000	0.20683	0.194000	0.17425	GAG		TCGA-LB-A9Q5-01A-11D-A397-08	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	0	0	0	10	344	0	92	0	6.199715e-02	1	12	0	92	2		0	0	0	0	0	2	1	0.976629	4	220	0	120	2		0	0	0	0	0	2	-10.193920	1	0	121384	5	35	1	1	2	3	2.004620	0	0.240000	2	0.241820	0.240000	0.120000	0.450000	0.240000	0.263118	0.240000	0	0.170000	0.330000
SCN1A	6323	broad.mit.edu	37	2	166930064	166930064	+	Missense_Mutation	SNP	G	G	A	rs139397227	byFrequency	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:166930064G>A	ENST00000303395.4	-	1	67	c.68C>T	c.(67-69)gCg>gTg	p.A23V	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.A23V|SCN1A_ENST00000409050.1_Missense_Mutation_p.A23V|SCN1A_ENST00000423058.2_Missense_Mutation_p.A23V|AC010127.3_ENST00000599041.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit			200				Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTCAATAGCCGCAAGAGATTC	0.423000																								0							SO:0001583	missense			ENST00000303395.4	0	1	hg19	CCDS54413.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	17.91	3.503542	0.64298	0.001589	0.0	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96802	-4.13;-4.13;-4.1;-4.08	5.77	5.77	0.91146	.	0.093676	0.46442	D	0.000293	D	0.95214	0.8448	L	0.53780	1.695	0.44570	D	0.997536	P	0.51057	0.941	P	0.46585	0.521	D	0.93992	0.7268	10	0.38643	T	0.18	.	14.2196	0.65818	0.0:0.0:0.8509:0.1491	.	23	P35498-2	.	V	23	ENSP00000407030:A23V;ENSP00000303540:A23V;ENSP00000364554:A23V;ENSP00000386312:A23V	ENSP00000303540:A23V	A	-	2	0	SCN1A	166638310	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.216000	0.42871	2.885000	0.99019	0.655000	0.94253	GCG		TCGA-LB-A9Q5-01A-11D-A397-08	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	0	0	0	6	695	1	190		0	0	0	1	190	2		0	0	0	0	0	2	0	0.053841	9	686	1	190	14		0	0	0	0	0	2	-1.846177	0	1	121412	46	52	1	1	2	3	2.004620	0	0.240000	2	0.241820	0.070000	0.020000	0.170000	0.070000	0.091800	0.070000	0	0.040000	0.120000
TTN	7273	broad.mit.edu	37	2	179398331	179398331	+	Missense_Mutation	SNP	G	G	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:179398331G>T	ENST00000591111.1	-	308	98312	c.98088C>A	c.(98086-98088)aaC>aaA	p.N32696K	TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N31769K|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N25272K|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.N34337K|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N25464K|TTN_ENST00000359218.5_Missense_Mutation_p.N25397K|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		CACCATATTTGTTCCTTGCCA	0.413000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	21.8	4.196169	0.78902	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.74	5.74	0.90152	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91888	0.7432	H	0.99074	4.42	0.50813	D	0.999894	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.94384	0.7607	9	0.87932	D	0	.	13.58	0.61896	0.0803:0.0:0.9197:0.0	.	25272;25397;25464;32696	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	31769;25272;25464;25397;25269	ENSP00000343764:N31769K;ENSP00000434586:N25272K;ENSP00000340554:N25464K;ENSP00000352154:N25397K	ENSP00000340554:N25464K	N	-	3	2	TTN	179106577	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	4.905000	0.63286	2.712000	0.92718	0.561000	0.74099	AAC		TCGA-LB-A9Q5-01A-11D-A397-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	0	8	245	0	76	0	0	0	1	0	76	2		0	0	0	0	0	2	1	0.989521	8	244	0	76	2		0	0	0	0	0	2	-9.400417	1	1	0	0		1	1	2	3	2.004620	0	0.240000	2	0.241820	0.270000	0.120000	0.530000	0.260000	0.298127	0.270000	0	0.190000	0.390000
GDF7	151449	broad.mit.edu	37	2	20870689	20870689	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:20870689C>T	ENST00000272224.3	+	2	1433	c.857C>T	c.(856-858)gCc>gTc	p.A286V		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7			7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				GAGATCCGCGCCCAGGCCCGC	0.736000																								0							SO:0001583	missense			ENST00000272224.3	0	1	hg19	CCDS1701.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960656	0.53400	.	.	ENSG00000143869	ENST00000272224	T	0.79653	-1.29	3.37	3.37	0.38596	.	0.735154	0.10906	U	0.621094	T	0.66819	0.2828	N	0.19112	0.55	0.33733	D	0.618491	P	0.44627	0.839	B	0.38562	0.276	T	0.73209	-0.4055	10	0.59425	D	0.04	.	9.0478	0.36358	0.4019:0.5981:0.0:0.0	.	286	Q7Z4P5	GDF7_HUMAN	V	286	ENSP00000272224:A286V	ENSP00000272224:A286V	A	+	2	0	GDF7	20734170	1.000000	0.71417	0.987000	0.45799	0.306000	0.27790	4.331000	0.59273	1.890000	0.54733	0.462000	0.41574	GCC		TCGA-LB-A9Q5-01A-11D-A397-08	GDF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207563.2	0	0	0	4	42	0	13		0	0	0	0	13	2		0	0	0	0	0	2	1	0.888139	4	41	0	13	2		0	0	0	0	0	2	-9.388750	1	1	0	0		1	1	2	3	2.004620	0	0.240000	2	0.241820	0.770000	0.270000	1.000000	1.000000	0.747394	0.770000	0	0.470000	1.000000
ZNF513	130557	broad.mit.edu	37	2	27602967	27602967	+	Missense_Mutation	SNP	G	G	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:27602967G>T	ENST00000323703.6	-	2	402	c.204C>A	c.(202-204)gaC>gaA	p.D68E	ZNF513_ENST00000407879.1_Missense_Mutation_p.D6E|ZNF513_ENST00000491924.1_5'Flank	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513			17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				CACCTTCCGAGTCTCTCTCGA	0.557000																								0							SO:0001583	missense			ENST00000323703.6	1	1	hg19	CCDS1751.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969320	0.53614	.	.	ENSG00000163795	ENST00000323703;ENST00000407879;ENST00000436006	T;T;T	0.66815	3.17;2.98;-0.23	4.29	4.29	0.51040	.	0.000000	0.49916	D	0.000123	T	0.48352	0.1495	N	0.19112	0.55	0.29729	N	0.838021	P	0.40476	0.718	B	0.42343	0.384	T	0.48514	-0.9029	10	0.02654	T	1	-12.4003	12.1265	0.53920	0.0:0.0:1.0:0.0	.	68	Q8N8E2	ZN513_HUMAN	E	68;6;6	ENSP00000318373:D68E;ENSP00000384874:D6E;ENSP00000394226:D6E	ENSP00000318373:D68E	D	-	3	2	ZNF513	27456471	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.816000	0.48026	2.233000	0.73108	0.555000	0.69702	GAC		TCGA-LB-A9Q5-01A-11D-A397-08	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	0	0	0	34	893	0	242	0	1.469589e-01	1	17	0	242	2		0	0	0	0	0	2	1	1.000000	32	884	0	238	2		0	0	0	0	0	2	-4.005628	1	1	0	0		1	1	2	3	2.004620	0	0.240000	2	0.241820	0.300000	0.210000	0.440000	0.310000	0.320369	0.300000	0	0.250000	0.370000
CNNM4	26504	broad.mit.edu	37	2	97426885	97426885	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:97426885G>A	ENST00000377075.2	+	1	247	c.149G>A	c.(148-150)aGg>aAg	p.R50K		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4			20					GTGGGCATGAGGCTGGCGAGC	0.701000																								0							SO:0001583	missense			ENST00000377075.2	1	1	hg19	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	G	31	5.088319	0.94100	.	.	ENSG00000158158	ENST00000377075	D	0.84370	-1.84	3.72	3.72	0.42706	.	0.000000	0.64402	U	0.000006	D	0.87958	0.6309	M	0.71036	2.16	0.80722	D	1	D	0.67145	0.996	P	0.51615	0.675	D	0.89989	0.4106	10	0.72032	D	0.01	-18.3957	14.7617	0.69610	0.0:0.0:1.0:0.0	.	50	Q6P4Q7	CNNM4_HUMAN	K	50	ENSP00000366275:R50K	ENSP00000366275:R50K	R	+	2	0	CNNM4	96790612	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.077000	0.71275	2.069000	0.61940	0.462000	0.41574	AGG		TCGA-LB-A9Q5-01A-11D-A397-08	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	0	0	0	7	153	0	46	0	1.506310e-02	0	4	0	46	2		0	0	0	0	0	2	1	0.978600	7	147	0	45	2		0	0	0	0	0	2	-9.845501	1	1	0	0		1	1	2	3	2.004620	0	0.240000	2	0.241820	0.380000	0.170000	0.760000	0.350000	0.410276	0.380000	0	0.260000	0.550000
PLXNA1	5361	broad.mit.edu	37	3	126732924	126732924	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:126732924G>A	ENST00000393409.2	+	10	2375	c.2375G>A	c.(2374-2376)gGc>gAc	p.G792D	PLXNA1_ENST00000251772.4_Missense_Mutation_p.G769D	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1			67					GTGTGGAACGGCAACTTTGTC	0.632000																								0							SO:0001583	missense			ENST00000393409.2	0	1	hg19	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380294	0.82682	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.71222	-0.55;-0.55	2.87	2.87	0.33458	.	1.820450	0.02776	N	0.120250	D	0.84447	0.5474	M	0.85373	2.75	0.80722	D	1	P	0.45715	0.865	P	0.52710	0.707	T	0.76318	-0.3003	10	0.87932	D	0	.	14.5372	0.67969	0.0:0.0:1.0:0.0	.	792	Q9UIW2	PLXA1_HUMAN	D	792;769	ENSP00000377061:G792D;ENSP00000251772:G769D	ENSP00000251772:G769D	G	+	2	0	PLXNA1	128215614	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	5.506000	0.66993	1.912000	0.55364	0.491000	0.48974	GGC		TCGA-LB-A9Q5-01A-11D-A397-08	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	0	0	0	6	632	0	201	0	2.191286e-02	0	20	0	201	2		0	0	0	0	0	2	0	0.078843	6	627	1	199	13		0	0	0	0	0	2	-2.264807	0	1	0	0		1	1	2	3	2.001181	0	0.240000	2	0.241820	0.080000	0.020000	0.180000	0.080000	0.099827	0.080000	0	0.050000	0.130000
RBP1	5947	broad.mit.edu	37	3	139257784	139257784	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:139257784G>A	ENST00000483943.2	-	2	277	c.277C>T	c.(277-279)Cgc>Tgc	p.R93C	RBP1_ENST00000232219.2_Missense_Mutation_p.R93C|RBP1_ENST00000492918.1_Missense_Mutation_p.R93C|RP11-319G6.1_ENST00000381790.3_RNA|RP11-319G6.1_ENST00000515247.1_RNA	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN	retinol binding protein 1, cellular			5				Acitretin(DB00459)|Vitamin A(DB00162)	GCGATTTTGCGCAAGGCCACA	0.552000																								0							SO:0001583	missense			ENST00000483943.2	0	1	hg19	CCDS46925.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975146	0.74360	.	.	ENSG00000114115	ENST00000232219;ENST00000483943;ENST00000492918	T;T;T	0.09630	2.96;2.96;2.96	5.15	3.16	0.36331	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.135740	0.44483	D	0.000456	T	0.36936	0.0985	M	0.93720	3.45	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.996	T	0.22452	-1.0216	10	0.87932	D	0	.	5.8333	0.18593	0.1029:0.0:0.5208:0.3763	.	93;93;31	F2Z2F2;E7EWV0;P09455	.;.;RET1_HUMAN	C	93	ENSP00000232219:R93C;ENSP00000424813:R93C;ENSP00000429166:R93C	ENSP00000232219:R93C	R	-	1	0	RBP1	140740474	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.512000	0.60469	1.163000	0.42636	0.455000	0.32223	CGC		TCGA-LB-A9Q5-01A-11D-A397-08	RBP1-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341497.2	0	0	0	5	460	0	151	0	9.811812e-01	0	696	0	151	2		0	0	0	0	0	2	1	0.936789	5	457	0	150	2		0	0	0	0	0	2	-2.202903	0	1	0	0		1	1	2	3	2.001181	0	0.240000	2	0.241820	0.090000	0.030000	0.220000	0.090000	0.115353	0.090000	0	0.050000	0.150000
SCN5A	6331	broad.mit.edu	37	3	38601865	38601865	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:38601865C>T	ENST00000333535.4	-	23	4167	c.4018G>A	c.(4018-4020)Gtc>Atc	p.V1340I	SCN5A_ENST00000450102.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000451551.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000413689.1_Missense_Mutation_p.V1340I|SCN5A_ENST00000423572.2_Missense_Mutation_p.V1339I|SCN5A_ENST00000455624.2_Missense_Mutation_p.V1339I|SCN5A_ENST00000443581.1_Missense_Mutation_p.V1339I|SCN5A_ENST00000425664.1_Missense_Mutation_p.V1340I|SCN5A_ENST00000449557.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000414099.2_Missense_Mutation_p.V1340I			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)	ATGAGGCAGACGAGGAGGACG	0.577000																								0							SO:0001583	missense			ENST00000333535.4	1	1	hg19	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994698	0.93167	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96	4.25	4.25	0.50352	Ion transport (1);	0.133960	0.49916	D	0.000126	D	0.98865	0.9616	M	0.80616	2.505	0.54753	D	0.999989	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.998	D;D;D;D;D;D;P	0.87578	0.977;0.995;0.984;0.991;0.996;0.998;0.859	D	0.99758	1.1020	10	0.87932	D	0	.	17.2234	0.86963	0.0:1.0:0.0:0.0	.	1286;1339;1340;1340;1340;1339;1340	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	I	1340;1339;1340;1286;1339;1340;1340;1339;1286;1286	ENSP00000398962:V1340I;ENSP00000398266:V1339I;ENSP00000410257:V1340I;ENSP00000388797:V1286I;ENSP00000397915:V1339I;ENSP00000416634:V1340I;ENSP00000328968:V1340I;ENSP00000399524:V1339I;ENSP00000403355:V1286I;ENSP00000413996:V1286I	ENSP00000328968:V1340I	V	-	1	0	SCN5A	38576869	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.848000	0.69458	2.355000	0.79922	0.655000	0.94253	GTC		TCGA-LB-A9Q5-01A-11D-A397-08	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	0	0	0	8	181	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	0.989145	8	178	0	59	2		0	0	0	0	0	2	-4.239150	1	1	121412	6	36	1	1	2	3	2.001181	0	0.240000	2	0.241820	0.370000	0.170000	0.700000	0.350000	0.393113	0.370000	0	0.250000	0.520000
LRRN1	57633	broad.mit.edu	37	3	3888153	3888153	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:3888153G>A	ENST00000319331.3	+	2	2589	c.1828G>A	c.(1828-1830)Gta>Ata	p.V610I	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1			26					AAAGTCATGCGTAAATGTCAC	0.458000																								0							SO:0001583	missense			ENST00000319331.3	0	1	hg19	CCDS33685.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	8.266	0.812185	0.16537	.	.	ENSG00000175928	ENST00000319331	T	0.45276	0.9	5.5	4.63	0.57726	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.056986	0.64402	D	0.000001	T	0.23451	0.0567	N	0.13168	0.305	0.45161	D	0.998179	B	0.23990	0.095	B	0.13407	0.009	T	0.06770	-1.0808	10	0.18276	T	0.48	.	10.8023	0.46495	0.145:0.0:0.855:0.0	.	610	Q6UXK5	LRRN1_HUMAN	I	610	ENSP00000314901:V610I	ENSP00000314901:V610I	V	+	1	0	LRRN1	3863153	1.000000	0.71417	0.372000	0.25991	0.961000	0.63080	7.558000	0.82253	1.461000	0.47929	-0.145000	0.13849	GTA		TCGA-LB-A9Q5-01A-11D-A397-08	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	0	0	0	5	495	0	140	0	9.883287e-03	0	12	0	140	2		0	0	0	0	0	2	1	0.935831	5	489	0	140	2		0	0	0	0	0	2	-2.468413	0	1	121412	11	45	1	1	2	3	2.001181	0	0.240000	2	0.241820	0.080000	0.020000	0.210000	0.080000	0.108040	0.080000	0	0.050000	0.140000
SLC26A6	65010	broad.mit.edu	37	3	48667366	48667366	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:48667366C>T	ENST00000395550.2	-	13	1515	c.1468G>A	c.(1468-1470)Gac>Aac	p.D490N	SLC26A6_ENST00000420764.2_Missense_Mutation_p.D490N|SLC26A6_ENST00000383733.3_Missense_Mutation_p.D490N|SLC26A6_ENST00000482282.1_5'Flank|SLC26A6_ENST00000337000.8_Missense_Mutation_p.D383N|SLC26A6_ENST00000455886.2_Missense_Mutation_p.D454N|SLC26A6_ENST00000358747.6_Missense_Mutation_p.D469N			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6		SLC26A6/PRKAR2A(2)	19					AAGCCAAGGTCCAGGTTCAGC	0.607000													NSCLC(13;369 479 28271 30152 44026)											0							SO:0001583	missense			ENST00000395550.2	1	1	hg19	CCDS43087.1	.	.	.	.	.	.	.	.	.	.	C	35	5.416008	0.96092	.	.	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886;ENST00000421649	D;D;D;D;D;D;D	0.93859	-3.03;-3.03;-3.15;-2.99;-3.02;-3.12;-3.3	4.92	4.92	0.64577	.	.	.	.	.	D	0.97142	0.9066	M	0.86343	2.81	0.58432	D	0.999999	D;P;D;D;D;D;D	0.89917	1.0;0.952;1.0;1.0;1.0;1.0;1.0	D;P;D;D;D;D;D	0.97110	1.0;0.841;1.0;1.0;1.0;1.0;0.996	D	0.97654	1.0156	9	0.87932	D	0	.	18.6614	0.91473	0.0:1.0:0.0:0.0	.	454;503;383;490;490;490;3895	B4DMZ1;Q86YZ4;G3XAC1;Q9BXS9-2;Q548A7;Q9BXS9;Q5Y190	.;.;.;.;.;S26A6_HUMAN;.	N	490;490;490;383;503;469;454;298	ENSP00000404684:D490N;ENSP00000378920:D490N;ENSP00000373239:D490N;ENSP00000337648:D383N;ENSP00000351597:D469N;ENSP00000401066:D454N;ENSP00000389922:D298N	ENSP00000337648:D383N	D	-	1	0	SLC26A6	48642370	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.298000	0.59067	2.699000	0.92147	0.655000	0.94253	GAC		TCGA-LB-A9Q5-01A-11D-A397-08	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	1	0	0	12	205	0	52	1	2.463685e-01	2	14	0	52	2		0	0	0	0	0	2	1	0.999099	11	202	0	52	2		0	0	0	0	0	2	-3.325469	1	1	0	0		1	1	2	3	2.001181	0	0.240000	2	0.241820	0.470000	0.250000	0.810000	0.460000	0.493694	0.470000	0	0.350000	0.620000
OR5K1	26339	broad.mit.edu	37	3	98188534	98188534	+	Silent	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:98188534C>T	ENST00000332650.5	+	1	211	c.114C>T	c.(112-114)acC>acT	p.T38T		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	p.T38T(2)		30					ATCTGATCACCGTGGTGGGGA	0.433000																								2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000332650.5	1	1	hg19	CCDS43115.1																																																																																				TCGA-LB-A9Q5-01A-11D-A397-08	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1	0	0	0	21	738	0	232		0	0	0	0	232	2		0	0	0	0	0	2	1	0.999993	19	666	0	278	2		0	0	0	0	0	2	-2.023983	0	1	121406	3	40	1	1	2	3	2.001181	0	0.240000	2	0.241820	0.230000	0.140000	0.360000	0.230000	0.247933	0.230000	0	0.180000	0.290000
DNAH5	1767	broad.mit.edu	37	5	13891148	13891148	+	Silent	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr5:13891148C>T	ENST00000265104.4	-	17	2618	c.2514G>A	c.(2512-2514)acG>acA	p.T838T	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5			378	Lung NSC(4;0.00476)				GACAAAGAGGCGTGCTGCTCA	0.408000									Kartagener syndrome															0							SO:0001819	synonymous_variant	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	ENST00000265104.4	0	1	hg19	CCDS3882.1																																																																																				TCGA-LB-A9Q5-01A-11D-A397-08	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	0	0	0	12	639	0	162		0	0	0	0	162	2		0	0	0	0	0	2	1	0.999097	12	636	0	161	2		0	0	0	0	0	2	-2.542959	1	1	0	0		1	1	2	3	2.009230	0	0.240000	2	0.243631	0.150000	0.080000	1.000000	0.150000	0.189913	0.150000	0	0.110000	0.220000
GALNT10	55568	broad.mit.edu	37	5	153760011	153760011	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr5:153760011G>A	ENST00000297107.6	+	6	895	c.758G>A	c.(757-759)cGc>cAc	p.R253H	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000425427.2_Missense_Mutation_p.R253H|GALNT10_ENST00000377661.2_Missense_Mutation_p.R191H	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10			32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		TCTTCAGACCGCATTGCTCGG	0.502000																								0							SO:0001583	missense			ENST00000297107.6	0	1	hg19	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038191	0.75617	.	.	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;T	0.61742	0.08;0.08;0.22	5.41	5.41	0.78517	Glycosyl transferase, family 2 (1);	0.052285	0.85682	D	0.000000	T	0.70029	0.3177	M	0.67625	2.065	0.80722	D	1	D;D;D	0.76494	0.991;0.999;0.997	P;P;P	0.59288	0.855;0.801;0.607	T	0.71487	-0.4578	10	0.51188	T	0.08	.	14.7691	0.69662	0.0:0.1441:0.8559:0.0	.	191;253;253	Q86SR1-2;Q86SR1;Q86SR1-3	.;GLT10_HUMAN;.	H	253;253;191	ENSP00000415210:R253H;ENSP00000297107:R253H;ENSP00000366889:R191H	ENSP00000297107:R253H	R	+	2	0	GALNT10	153740204	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	6.457000	0.73505	2.535000	0.85469	0.462000	0.41574	CGC		TCGA-LB-A9Q5-01A-11D-A397-08	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	0	0	0	5	584	1	149	0	1.428892e-02	0	17	1	149	2		0	0	0	0	0	2	1	0.937501	5	583	0	147	2		0	0	0	0	0	2	-1.857861	0	1	121412	1	34	1	1	2	3	2.009230	0	0.240000	2	0.243631	0.070000	0.020000	1.000000	0.070000	0.110910	0.070000	0	0.040000	0.120000
PIK3CG	5294	broad.mit.edu	37	7	106508683	106508683	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr7:106508683G>A	ENST00000359195.3	+	2	987	c.677G>A	c.(676-678)cGc>cAc	p.R226H	PIK3CG_ENST00000496166.1_Missense_Mutation_p.R226H|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R226H	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma			132					GTCATTCACCGCAGCACCACC	0.572000																								0							SO:0001583	missense			ENST00000359195.3	0	1	hg19	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543339	0.27563	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.70282	-0.47;-0.47;-0.47	5.5	5.5	0.81552	Phosphoinositide 3-kinase, ras-binding (2);	0.132697	0.56097	D	0.000040	T	0.64114	0.2569	L	0.44542	1.39	0.43564	D	0.995886	P	0.50066	0.931	P	0.45377	0.478	T	0.59150	-0.7508	10	0.14252	T	0.57	-24.9223	13.0307	0.58840	0.074:0.0:0.926:0.0	.	226	P48736	PK3CG_HUMAN	H	226	ENSP00000392258:R226H;ENSP00000419260:R226H;ENSP00000352121:R226H	ENSP00000352121:R226H	R	+	2	0	PIK3CG	106295919	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.392000	0.59659	2.736000	0.93811	0.591000	0.81541	CGC		TCGA-LB-A9Q5-01A-11D-A397-08	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1	0	0	0	5	476	1	121	0	1.796622e-04	0	2	1	121	2		0	0	0	0	0	2	0	0.019002	5	474	1	121	15		0	0	0	0	0	2	-2.359945	0	1	0	0		1	1	2	3	2.018893	0	0.240000	2	0.245433	0.090000	0.030000	1.000000	0.090000	0.145699	0.090000	0	0.050000	0.160000
ABCA13	154664	broad.mit.edu	37	7	48494876	48494876	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr7:48494876T>C	ENST00000435803.1	+	43	12832	c.12808T>C	c.(12808-12810)Ttt>Ctt	p.F4270L	ABCA13_ENST00000544596.1_Missense_Mutation_p.F30L	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13			270					CGAGACCTACTTTTTCAGGTA	0.463000																								0							SO:0001583	missense			ENST00000435803.1	1	1	hg19	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.087255	0.55968	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.91407	-2.32;-2.39;-2.84	5.0	5.0	0.66597	.	0.000000	0.49916	D	0.000134	D	0.94984	0.8377	M	0.86420	2.815	0.44234	D	0.997078	P;D;D	0.69078	0.745;0.99;0.997	P;D;D	0.75020	0.652;0.909;0.985	D	0.94276	0.7515	10	0.35671	T	0.21	.	11.3979	0.49854	0.0:0.0:0.0:1.0	.	30;1972;4270	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	L	4270;73;30	ENSP00000411096:F4270L;ENSP00000391042:F73L;ENSP00000442634:F30L	ENSP00000391042:F73L	F	+	1	0	ABCA13	48465422	1.000000	0.71417	0.964000	0.40570	0.174000	0.22865	4.818000	0.62657	2.006000	0.58801	0.459000	0.35465	TTT		TCGA-LB-A9Q5-01A-11D-A397-08	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	1	0	0	7	71	0	26		0	0	0	0	26	2		0	0	0	0	0	2	1	0.981420	7	70	0	26	2		0	0	0	0	0	2	-12.623190	1	1	0	0		1	1	2	3	2.018893	0	0.240000	2	0.245433	0.790000	0.360000	1.000000	1.000000	0.775994	0.790000	0	0.540000	1.000000
SCRIB	23513	broad.mit.edu	37	8	144895217	144895217	+	Silent	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr8:144895217G>A	ENST00000320476.3	-	7	631	c.625C>T	c.(625-627)Ctg>Ttg	p.L209L	SCRIB_ENST00000356994.2_Silent_p.L209L|MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000377533.3_Silent_p.L128L	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein			42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		AGTGCTGACAGCTGGTTCCGG	0.622000													Pancreas(51;966 1133 10533 14576 29674)											0							SO:0001819	synonymous_variant			ENST00000320476.3	0	1	hg19	CCDS6411.1																																																																																				TCGA-LB-A9Q5-01A-11D-A397-08	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	0	0	0	3	22	0	12	0	8.364176e-01	0	27	0	12	2		0	0	0	0	0	2	1	0.799609	3	21	0	12	2		0	0	0	0	0	2	-8.940018	1	1	0	0		1	1	2	3	2.011056	0	0.240000	2	0.243631	0.990000	0.320000	1.000000	1.000000	0.855537	0.990000	1	0.610000	1.000000
MYOM2	9172	broad.mit.edu	37	8	2041906	2041906	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr8:2041906C>T	ENST00000262113.4	+	17	2254	c.2113C>T	c.(2113-2115)Cag>Tag	p.Q705*	MYOM2_ENST00000523438.1_Nonsense_Mutation_p.Q130*	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2			104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)			CATAAAAGTGCAGGCCGCACT	0.488000																								0							SO:0001587	stop_gained			ENST00000262113.4	0	1	hg19	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297700	0.60086	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	.	.	.	5.44	5.44	0.79542	.	0.157344	0.48286	D	0.000183	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1534	0.65401	0.1499:0.8501:0.0:0.0	.	.	.	.	X	705;130	.	ENSP00000262113:Q705X	Q	+	1	0	MYOM2	2029313	1.000000	0.71417	0.998000	0.56505	0.034000	0.12701	2.879000	0.48522	2.558000	0.86282	0.655000	0.94253	CAG		TCGA-LB-A9Q5-01A-11D-A397-08	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	0	0	0	8	254	0	67	0	0	0	1	0	67	2		0	0	0	0	0	2	1	0.989345	8	252	0	67	2		0	0	0	0	0	2	-3.424635	1	1	0	0		1	1	2	3	2.011056	0	0.240000	2	0.243631	0.270000	0.120000	1.000000	0.250000	0.302749	0.270000	0	0.180000	0.380000
TEX15	56154	broad.mit.edu	37	8	30705431	30705431	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr8:30705431C>T	ENST00000256246.2	-	1	1177	c.1103G>A	c.(1102-1104)gGg>gAg	p.G368E	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15			138					ATTTATTTTCCCCAATTTCAG	0.383000																								0							SO:0001583	missense			ENST00000256246.2	1	1	hg19	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.000801	0.00431	.	.	ENSG00000133863	ENST00000256246	T	0.08193	3.12	5.51	-1.54	0.08584	.	0.673251	0.14063	N	0.343910	T	0.02156	0.0067	N	0.01168	-0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39482	-0.9612	10	0.87932	D	0	.	1.294	0.02066	0.1349:0.2395:0.1397:0.4859	.	368	Q9BXT5	TEX15_HUMAN	E	368	ENSP00000256246:G368E	ENSP00000256246:G368E	G	-	2	0	TEX15	30824973	0.043000	0.20138	0.001000	0.08648	0.169000	0.22640	0.166000	0.16583	-0.412000	0.07519	-0.312000	0.09012	GGG		TCGA-LB-A9Q5-01A-11D-A397-08	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1	0	0	0	14	369	0	107		0	0	0	0	107	2		0	0	0	0	0	2	1	0.999762	14	368	0	106	2		0	0	0	0	0	2	-3.221883	1	1	0	0		1	1	2	3	2.011056	0	0.240000	2	0.243631	0.310000	0.170000	1.000000	0.310000	0.343066	0.310000	0	0.230000	0.410000
TACC1	6867	broad.mit.edu	37	8	38677137	38677137	+	Silent	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr8:38677137G>A	ENST00000317827.4	+	3	754	c.375G>A	c.(373-375)caG>caA	p.Q125Q	TACC1_ENST00000443286.2_Silent_p.Q141Q|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000379931.3_Silent_p.Q125Q|TACC1_ENST00000518415.1_Silent_p.Q80Q|TACC1_ENST00000520340.1_Silent_p.Q89Q|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000520611.1_5'Flank|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000520973.1_5'UTR	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1			17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		TGCCACAGCAGGCCATTGACT	0.383000																								0							SO:0001819	synonymous_variant			ENST00000317827.4	1	1	hg19	CCDS6109.1																																																																																				TCGA-LB-A9Q5-01A-11D-A397-08	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	0	0	0	10	367	0	108	0	2.493309e-01	0	33	0	108	2		0	0	0	0	0	2	1	0.996761	10	362	0	107	2		0	0	0	0	0	2	-9.842539	1	1	0	0		1	1	2	3	2.011056	0	0.240000	2	0.243631	0.230000	0.110000	1.000000	0.220000	0.262875	0.230000	0	0.160000	0.320000
TPD52	7163	broad.mit.edu	37	8	80954871	80954871	+	Missense_Mutation	SNP	T	T	G			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr8:80954871T>G	ENST00000379097.3	-	5	901	c.539A>C	c.(538-540)aAg>aCg	p.K180T	TPD52_ENST00000518937.1_Missense_Mutation_p.K163T|TPD52_ENST00000523395.1_5'UTR|TPD52_ENST00000519303.2_Missense_Mutation_p.K16T|TPD52_ENST00000520527.1_Missense_Mutation_p.K203T|TPD52_ENST00000448733.2_Missense_Mutation_p.K194T|TPD52_ENST00000537855.1_Missense_Mutation_p.K180T|TPD52_ENST00000517427.1_Missense_Mutation_p.K189T|TPD52_ENST00000379096.5_Missense_Mutation_p.K140T	NM_001025252.1	NP_001020423.1	P55327	TPD52_HUMAN	tumor protein D52			8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)		GTTTTCGACCTTTTCTTCAAA	0.308000																								0							SO:0001583	missense			ENST00000379097.3	1	1	hg19	CCDS34912.1	.	.	.	.	.	.	.	.	.	.	T	19.33	3.807809	0.70797	.	.	ENSG00000076554	ENST00000537855;ENST00000379096;ENST00000518937;ENST00000520527;ENST00000517427;ENST00000448733;ENST00000379097;ENST00000425513;ENST00000519303	T;T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.11	5.11	0.69529	.	0.143577	0.64402	D	0.000008	T	0.56016	0.1957	M	0.86028	2.79	0.80722	D	1	D;D;D	0.89917	0.997;0.999;1.0	D;D;D	0.81914	0.925;0.982;0.995	T	0.61397	-0.7071	10	0.66056	D	0.02	-31.5479	9.074	0.36511	0.0:0.0816:0.0:0.9184	.	140;163;180	P55327-2;E5RKB4;P55327	.;.;TPD52_HUMAN	T	180;140;163;203;189;194;180;140;16	ENSP00000438113:K180T;ENSP00000368390:K140T;ENSP00000429915:K163T;ENSP00000429309:K203T;ENSP00000429351:K189T;ENSP00000410222:K194T;ENSP00000368391:K180T;ENSP00000428951:K16T	ENSP00000368390:K140T	K	-	2	0	TPD52	81117426	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.512000	0.53407	2.265000	0.75225	0.482000	0.46254	AAG		TCGA-LB-A9Q5-01A-11D-A397-08	TPD52-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379539.2	0	0	0	11	274	0	85	1	8.009196e-01	9	68	0	85	2		0	0	0	0	0	2	1	0.998390	11	273	0	85	2		0	0	0	0	0	2	-3.221883	1	1	0	0		1	1	2	3	2.011056	0	0.240000	2	0.243631	0.330000	0.170000	1.000000	0.320000	0.365120	0.330000	0	0.240000	0.460000
TGFBR1	7046	broad.mit.edu	37	9	101911492	101911492	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr9:101911492G>A	ENST00000374994.4	+	9	1534	c.1417G>A	c.(1417-1419)Gaa>Aaa	p.E473K	TGFBR1_ENST00000552516.1_Missense_Mutation_p.E477K|TGFBR1_ENST00000374990.2_Missense_Mutation_p.E396K|TGFBR1_ENST00000550253.1_Missense_Mutation_p.E404K	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1			27		Acute lymphoblastic leukemia(62;0.0559)			AATTATGAGAGAATGTTGGTA	0.348000																								0							SO:0001583	missense			ENST00000374994.4	0	1	hg19	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880269	0.91740	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000550253	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.66	5.66	0.87406	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80204	0.4580	M	0.75884	2.315	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.986;0.997	T	0.81272	-0.1008	10	0.87932	D	0	.	18.8853	0.92375	0.0:0.0:1.0:0.0	.	396;473	P36897-3;P36897	.;TGFR1_HUMAN	K	473;435;396;477;404	ENSP00000364133:E473K;ENSP00000364129:E396K;ENSP00000447297:E477K;ENSP00000450052:E404K	ENSP00000364129:E396K	E	+	1	0	TGFBR1	100951313	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.827000	0.97445	0.655000	0.94253	GAA		TCGA-LB-A9Q5-01A-11D-A397-08	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3	0	0	0	10	178	0	55	1	5.255390e-01	2	29	0	55	2	1	9.999998e-01	40	716	0	840	2	1	0.997040	10	177	0	54	2		0	0	0	0	0	2	-13.494670	1	1	0	0		1	0	1	1	1.978128	0	0.240000	2	0.212598	0.430000	0.220000	0.720000	0.420000	0.456509	0.430000	0	0.310000	0.580000
CACNA1B	774	broad.mit.edu	37	9	140952516	140952516	+	Silent	SNP	C	C	T	rs140374106	by1000genomes	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr9:140952516C>T	ENST00000371372.1	+	28	4267	c.4122C>T	c.(4120-4122)tcC>tcT	p.S1374S	CACNA1B_ENST00000277551.2_Silent_p.S1374S|CACNA1B_ENST00000277549.5_Silent_p.S570S|CACNA1B_ENST00000371355.4_Silent_p.S1375S|CACNA1B_ENST00000371363.1_Silent_p.S1374S|CACNA1B_ENST00000371357.1_Silent_p.S1375S	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit			80	all_cancers(76;0.166)			Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TGAAACACTCCGTGGATGCCA	0.562000																								0							SO:0001819	synonymous_variant			ENST00000371372.1	1	0	hg19	CCDS59522.1																																																																																				TCGA-LB-A9Q5-01A-11D-A397-08	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	1	0	0	15	225	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	0.999883	15	224	0	62	2		0	0	0	0	0	2	-2.842482	1	1	120944	65	49	1	0	1	1	1.978128	0	0.240000	2	0.212598	0.500000	0.290000	0.770000	0.500000	0.523576	0.500000	0	0.390000	0.640000
BEX4	56271	broad.mit.edu	37	X	102471391	102471391	+	Missense_Mutation	SNP	C	C	T	rs139178618	byFrequency	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:102471391C>T	ENST00000372695.5	+	3	545	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	BEX4_ENST00000372691.3_Missense_Mutation_p.R104C	NM_001080425.3	NP_001073894.1	Q9NWD9	BEX4_HUMAN	brain expressed, X-linked 4			9					GCACTATATGCGCTTCCAAAC	0.418000																								0							SO:0001583	missense			ENST00000372695.5	1	1	hg19	CCDS35355.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778944	0.49891	.	.	ENSG00000102409	ENST00000372695;ENST00000372691	T;T	0.49720	0.77;0.77	3.84	2.98	0.34508	.	0.159217	0.30277	N	0.009992	T	0.43344	0.1243	M	0.76170	2.325	0.09310	N	1	B	0.26195	0.144	B	0.21151	0.033	T	0.44907	-0.9297	10	0.59425	D	0.04	.	6.479	0.22053	0.0:0.8657:0.0:0.1343	.	104	Q9NWD9	BEX4_HUMAN	C	104	ENSP00000361780:R104C;ENSP00000361776:R104C	ENSP00000361776:R104C	R	+	1	0	BEX4	102358047	0.001000	0.12720	0.001000	0.08648	0.847000	0.48162	0.082000	0.14847	0.979000	0.38497	0.594000	0.82650	CGC		TCGA-LB-A9Q5-01A-11D-A397-08	BEX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057694.1	0	0	0	19	566	0	129	0	7.530266e-01	0	82	0	129	2		0	0	0	0	0	2	1	0.999990	19	562	0	129	2		0	0	0	0	0	2	-2.453738	0	1	0	0		1	0	1	1			0.240000	2	0.240000	0.270000	0.160000	0.410000	0.270000	0.282381	0.270000	0	0.210000	0.340000
MTM1	4534	broad.mit.edu	37	X	149832023	149832023	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:149832023C>T	ENST00000370396.2	+	14	1639	c.1585C>T	c.(1585-1587)Cgt>Tgt	p.R529C	MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.R414C|MTM1_ENST00000413012.2_Missense_Mutation_p.R492C|MTM1_ENST00000542741.1_3'UTR	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1			26	Acute lymphoblastic leukemia(192;6.56e-05)				TGCCAGTATGCGTCACTTGGA	0.358000																								0							SO:0001583	missense			ENST00000370396.2	0	1	hg19	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790939	0.50102	.	.	ENSG00000171100	ENST00000370396;ENST00000543350;ENST00000413012	D;D;D	0.90261	-2.64;-2.64;-2.64	5.39	4.52	0.55395	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.89798	0.6819	M	0.85777	2.775	0.80722	D	1	P;B	0.35033	0.481;0.245	B;B	0.26094	0.055;0.066	D	0.87953	0.2725	10	0.44086	T	0.13	.	13.4599	0.61221	0.0:0.9221:0.0:0.0779	.	492;529	B7Z491;Q13496	.;MTM1_HUMAN	C	529;414;492	ENSP00000359423:R529C;ENSP00000439784:R414C;ENSP00000389157:R492C	ENSP00000359423:R529C	R	+	1	0	MTM1	149582681	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.262000	0.78410	1.039000	0.40074	0.513000	0.50165	CGT		TCGA-LB-A9Q5-01A-11D-A397-08	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	0	0	0	6	723	0	225	0	4.411844e-03	0	10	0	225	2		0	0	0	0	0	2	1	0.964769	6	721	0	225	2		0	0	0	0	0	2	-2.417651	0	1	0	0		1	0	1	1			0.240000	2	0.240000	0.070000	0.020000	0.140000	0.070000	0.079448	0.070000	0	0.040000	0.110000
HUWE1	10075	broad.mit.edu	37	X	53566769	53566769	+	Silent	SNP	G	G	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:53566769G>T	ENST00000342160.3	-	74	11938	c.11481C>A	c.(11479-11481)tcC>tcA	p.S3827S	HUWE1_ENST00000262854.6_Silent_p.S3827S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase			153					GGGTTCCATCGGAGGCTGGAG	0.502000																								0							SO:0001819	synonymous_variant			ENST00000342160.3	0	1	hg19	CCDS35301.1																																																																																				TCGA-LB-A9Q5-01A-11D-A397-08	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	1	0	0	4	79	0	14	1	8.337717e-01	20	47	0	14	2		0	0	0	0	0	2	1	0.889231	4	78	0	14	2		0	0	0	0	0	2	-4.107394	1	1	0	0		1	0	1	1			0.240000	2	0.240000	0.430000	0.150000	0.900000	0.390000	0.469893	0.430000	0	0.260000	0.660000
