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
PUS3	83480	broad.mit.edu	37	11	125763815	125763816	+	Frame_Shift_Ins	INS	-	-	TCAA			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08			-	TCAA	-	-		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr11:125763815_125763816insTCAA	ENST00000530811.1	-	3	1355_1356	c.1310_1311insTTGA	c.(1309-1311)gagfs	p.E437fs	HYLS1_ENST00000356438.3_Intron|PUS3_ENST00000227474.3_Frame_Shift_Ins_p.E437fs|HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000425380.2_Intron			Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3			10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)			AATGTGGGTGCTCAATTCGTCC	0.465000																								0							SO:0001589	frameshift_variant			ENST00000530811.1	0	1	hg19	CCDS8466.1																																																																																				TCGA-FB-AAQ0-01A-31D-A40W-08	PUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386783.1	1	0	0	240	955	0	190	0	9.999863e-01	0	64	0	190	2	0	0	0	0	0	0		1	1.000000	275	961	0	185	2								-20.000000	1	1	0	0		1	1	2	3	2.189883	0	0.670000	1.880000	0.682753	0.620000	5.500000e-01	1.000000	0.620000	0.661175	0.620000	0	5.800000e-01	6.800000e-01
ZNF485	220992	broad.mit.edu	37	10	44104721	44104721	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr10:44104721C>A	ENST00000361807.3	+	4	364	c.170C>A	c.(169-171)cCa>cAa	p.P57Q	ZNF485_ENST00000374435.3_Missense_Mutation_p.P57Q|ZNF485_ENST00000374437.2_Intron	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485			16					TCTTCCAAACCAAAACTAATT	0.468000																								0							SO:0001583	missense			ENST00000361807.3	0	1	hg19	CCDS7205.2	.	.	.	.	.	.	.	.	.	.	C	12.580000	1.980972	0.349420	.	.	ENSG00000198298	ENST00000361807;ENST00000430885;ENST00000374435	T;T;T	0.00986	5.47;5.47;5.47	3.040000	2.110000	0.272560	Krueppel-associated box (3);	.	.	.	.	T	0.01695	0.0054	M	0.76328	2.33	0.807220	D	1.000000	B	0.31548	0.328	B	0.34138	0.176	T	0.53732	-0.8397	9	0.52906	T	0.07	.	7.809400	0.292210	0.0:0.8675:0.0:0.1325	.	57	Q8NCK3	ZN485_HUMAN	Q	57	ENSP00000354694:P57Q;ENSP00000393570:P57Q;ENSP00000363558:P57Q	ENSP00000354694:P57Q	P	+	2	0	ZNF485	43424727	0.395000	0.25254	6.290000e-01	0.292540	5.100000e-01	0.340730	0.455000	0.21843	0.599000	0.298450	0.455000	0.322230	CCA		TCGA-FB-AAQ0-01A-31D-A40W-08	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	0	0	0	4	189	0	32	0	7.849294e-04	0	2	0	32	2		0	0	0	0	0	2	1	0.886262	4	185	0	32	2								-5.859047	1	1	0	0		1	0	2	2	2.035076	1	0.670000	1.880000	0.670000	0.070000	1.000000e-02	1.000000	0.060000	0.232270	0.070000	0	4.000000e-02	1
PPP1R3C	5507	broad.mit.edu	37	10	93389939	93389939	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr10:93389939C>G	ENST00000238994.5	-	2	783	c.699G>C	c.(697-699)gaG>gaC	p.E233D		NM_005398.5	NP_005389.1			protein phosphatase 1, regulatory subunit 3C			12		Colorectal(252;0.235)			AAATGCAGAACTCAATTTTCT	0.408000																								0							SO:0001583	missense			ENST00000238994.5	0	1	hg19	CCDS7416.1	.	.	.	.	.	.	.	.	.	.	C	17.860000	3.493100	0.641860	.	.	ENSG00000119938	ENST00000238994;ENST00000438999;ENST00000500094	T	0.65916	-0.18	5.730000	4.820000	0.621170	Putative phosphatase regulatory subunit (2);	0.054846	0.64402	D	0.000001	T	0.78641	0.4315	M	0.87097	2.86	0.584320	D	0.999993	D	0.71674	0.998	D	0.87578	0.998	T	0.79315	-0.1854	10	0.48119	T	0.1	-33.3203	8.699000	0.343140	0.0:0.7879:0.0:0.2121	.	233	Q9UQK1	PPR3C_HUMAN	D	233;213;115	ENSP00000238994:E233D	ENSP00000238994:E233D	E	-	3	2	PPP1R3C	93379919	0.998000	0.40836	1	0.803570	9.980000e-01	0.957120	0.666000	0.25097	2.699000	0.921470	0.655000	0.942530	GAG		TCGA-FB-AAQ0-01A-31D-A40W-08	PPP1R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049372.1	0	0	0	9	484	0	112	0	2.602478e-03	0	4	0	112	2		0	0	0	0	0	2	1	0.994086	9	480	0	112	2								-7.984646	1	1	0	0		1	0	2	2	2.060687	1	0.670000	1.880000	0.670000	0.050000	2.000000e-02	1.000000	0.060000	0.228820	0.050000	0	3.000000e-02	1
DYNC2H1	79659	broad.mit.edu	37	11	103057008	103057008	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr11:103057008A>T	ENST00000375735.2	+	42	6815	c.6671A>T	c.(6670-6672)cAc>cTc	p.H2224L	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.H2224L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1			33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)			CCAGACTTTCACAAACCTATG	0.393000																								0							SO:0001583	missense			ENST00000375735.2	0	1	hg19	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	12.050000	1.821861	0.322370	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.26660	1.72;1.72	5.610000	5.610000	0.854770	.	.	.	.	.	T	0.21921	0.0528	L	0.44542	1.39	0.303000	N	0.789519	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.08351	-1.0726	9	0.41790	T	0.15	.	7.982200	0.301900	0.8427:0.0:0.1573:0.0	.	2224;2224	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	L	2224	ENSP00000364887:H2224L;ENSP00000381167:H2224L	ENSP00000364887:H2224L	H	+	2	0	DYNC2H1	102562218	0.999000	0.42202	9.990000e-01	0.593770	9.650000e-01	0.642790	3.816000	0.55658	2.127000	0.655070	0.454000	0.307480	CAC		TCGA-FB-AAQ0-01A-31D-A40W-08	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	0	0	0	4	156	0	40	0	2.070018e-02	0	7	0	40	2		0	0	0	0	0	2	1	0.889897	4	155	0	39	2								-6.582075	1	1	120756	1	28	1	1	2	3	2.189883	0	0.670000	1.880000	0.682753	0.090000	2.000000e-02	1.000000	0.080000	0.182955	0.090000	0	5.000000e-02	1.600000e-01
PPP2R1B	5519	broad.mit.edu	37	11	111626165	111626165	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr11:111626165G>A	ENST00000527614.1	-	6	762	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	PPP2R1B_ENST00000393055.2_Missense_Mutation_p.R106C|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.R72C|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.R169C|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.R233C|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.R233C	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta			22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)			GCAAGGAGGCGCACTGAATCC	0.448000																								0							SO:0001583	missense			ENST00000527614.1	1	1	hg19	CCDS8349.1	.	.	.	.	.	.	.	.	.	.	G	25.700000	4.665575	0.882510	4.54E-4	1.16E-4	ENSG00000137713	ENST00000311129;ENST00000412902;ENST00000426998;ENST00000527614;ENST00000427203;ENST00000341980;ENST00000393055	T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51	5.500000	5.500000	0.815520	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.82171	0.4979	H	0.97077	3.935	0.807220	D	1.000000	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.994;1.0;1.0;0.998;1.0	D	0.88083	0.2808	10	0.87932	D	0	-6.6676	16.872200	0.860430	0.0:0.0:1.0:0.0	.	106;233;72;169;233;233	A8MY67;F8W8G1;B7Z1G3;B4DWW5;P30154;P30154-2	.;.;.;.;2AAB_HUMAN;.	C	233;106;169;233;72;233;106	ENSP00000311344:R233C;ENSP00000410671:R169C;ENSP00000437193:R233C;ENSP00000415759:R72C;ENSP00000343317:R233C;ENSP00000376775:R106C	ENSP00000311344:R233C	R	-	1	0	PPP2R1B	111131375	1.000000	0.71417	1	0.803570	9.210000e-01	0.553400	7.360000	0.79487	2.585000	0.873010	0.655000	0.942530	CGC		TCGA-FB-AAQ0-01A-31D-A40W-08	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	1	0	1	35	215	0	67	1	7.403206e-01	2	16	0	67	2		0	0	0	0	0	2	1	1.000000	36	212	0	63	2								-20.000000	1	1	121410	7	40	1	1	2	3	2.189883	0	0.670000	1.880000	0.682753	0.440000	3.100000e-01	1.000000	0.430000	0.496621	0.440000	0	3.700000e-01	5.500000e-01
DCDC1	341019	broad.mit.edu	37	11	30926703	30926703	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr11:30926703C>A	ENST00000597505.1	-	29	4112	c.4113G>T	c.(4111-4113)ttG>ttT	p.L1371F	DCDC1_ENST00000406071.2_Missense_Mutation_p.L106F|DCDC1_ENST00000339794.5_Missense_Mutation_p.L450F			P59894	DCDC1_HUMAN	doublecortin domain containing 1			31	Lung SC(675;0.225)				TGTCACACGACAAATCAACCt	0.363000																								0							SO:0001583	missense			ENST00000597505.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	12.700000	2.016517	0.356060	.	.	ENSG00000170959	ENST00000406071;ENST00000339794	.	.	.	5.310000	4.120000	0.482400	.	0.000000	0.43110	D	0.000601	T	0.63733	0.2536	M	0.71581	2.175	0.262730	N	0.978396	D	0.89917	1.0	D	0.83275	0.996	T	0.56171	-0.8023	8	.	.	.	-8.0964	8.793500	0.348660	0.0:0.0887:0.0:0.9113	.	450	Q6ZRR9	DCDC5_HUMAN	F	106;450	.	.	L	-	3	2	DCDC5	30883279	1.000000	0.71417	9.960000e-01	0.522420	2.600000e-02	0.113680	1.008000	0.29872	0.844000	0.350940	-0.290000	0.098290	TTG		TCGA-FB-AAQ0-01A-31D-A40W-08	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	0	0	0	22	42	0	9		0	0	0	0	9	2		0	0	0	0	0	2	1	1.000000	20	41	0	9	2								-20.000000	1	1	0	0		1	1	2	3	2.184340	0	0.670000	1.880000	0.679658	0.990000	7.200000e-01	1.000000	1.000000	0.960066	0.990000	1	8.800000e-01	1
P2RX7	5027	broad.mit.edu	37	12	121622380	121622380	+	Silent	SNP	C	C	T	rs2230913	byFrequency	TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr12:121622380C>T	ENST00000546057.1	+	13	1706	c.1563C>T	c.(1561-1563)caC>caT	p.H521H	P2RX7_ENST00000443520.3_3'UTR|RP11-340F14.5_ENST00000569999.1_RNA|P2RX7_ENST00000541446.1_Silent_p.H232H|P2RX7_ENST00000535250.1_Silent_p.H431H|P2RX7_ENST00000328963.5_Silent_p.H351H	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7			19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)				TGTCCAGACACGTCCTGCAGT	0.627000																								0							SO:0001819	synonymous_variant			ENST00000546057.1	1	0	hg19	CCDS9213.1																																																																																				TCGA-FB-AAQ0-01A-31D-A40W-08	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402532.1	1	0	1	32	102	0	25	0	0	0	1	0	25	2		0	0	0	0	0	2	1	1.000000	31	99	0	24	2								-1.709817	0	1	121412	1552	60	1	0	1	1	2.017093	1	0.670000	1.880000	0.647568	0.660000	4.800000e-01	0.870000	0.670000	0.675424	0.660000	0	5.600000e-01	7.700000e-01
DNAH10	196385	broad.mit.edu	37	12	124323215	124323215	+	Silent	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr12:124323215C>T	ENST00000409039.3	+	28	4786	c.4761C>T	c.(4759-4761)tgC>tgT	p.C1587C		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10			52	all_neural(191;0.101)|Medulloblastoma(191;0.163)				ACCCACTCTGCGTCCAGGAGC	0.537000																								0							SO:0001819	synonymous_variant			ENST00000409039.3	1	1	hg19	CCDS9255.2																																																																																				TCGA-FB-AAQ0-01A-31D-A40W-08	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3	1	0	0	20	426	0	88		0	0	0	0	88	2		0	0	0	0	0	2	1	0.999995	20	421	0	86	2								-4.430493	1	1	120908	6	38	1	0	1	1	2.017093	1	0.670000	1.880000	0.647568	0.120000	7.000000e-02	0.190000	0.130000	0.130865	0.120000	0	9.000000e-02	1.600000e-01
RIMBP2	23504	broad.mit.edu	37	12	130926715	130926715	+	Silent	SNP	C	C	T	rs138793493	byFrequency	TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr12:130926715C>T	ENST00000261655.4	-	8	1294	c.1131G>A	c.(1129-1131)tcG>tcA	p.S377S	RIMBP2_ENST00000536002.1_Silent_p.S285S|RIMBP2_ENST00000535703.1_Silent_p.S285S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2			96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)			GCAGCTCATCCGAGCTGCCCC	0.637000																								0							SO:0001819	synonymous_variant			ENST00000261655.4	1	0	hg19	CCDS31925.1																																																																																				TCGA-FB-AAQ0-01A-31D-A40W-08	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	0	0	1	39	166	0	37		0	0	0	0	37	2		0	0	0	0	0	2	1	1.000000	39	163	0	36	2								-2.838707	1	1	121412	253	55	1	0	1	1	2.017093	1	0.670000	1.880000	0.647568	0.520000	3.900000e-01	0.680000	0.530000	0.538681	0.520000	0	4.500000e-01	6.100000e-01
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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)		CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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	5144	Substitution - Missense(5142)|Insertion - In frame(2)	GRCh37	CM076251	KRAS	M	rs121913530	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	28.600000	4.930538	0.923890	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.680000	5.680000	0.881260	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.807220	D	1.000000	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.371900	0.904090	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1	0.803570	9.980000e-01	0.957120	7.743000	0.85020	2.668000	0.907890	0.563000	0.778840	GGT		TCGA-FB-AAQ0-01A-31D-A40W-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	54	147	0	62	1	9.691807e-01	10	8	0	62	2	1	1	103	226	0	204	2	1	1.000000	53	147	0	60	2								-20.000000	1	1	0	0		1	0	1	1	2.030175	1	0.670000	1.880000	0.648824	0.740000	5.800000e-01	0.920000	0.750000	0.757835	0.740000	0	6.600000e-01	8.400000e-01
MCF2L	23263	broad.mit.edu	37	13	113678964	113678964	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr13:113678964G>A	ENST00000375608.3	+	4	318	c.260G>A	c.(259-261)cGg>cAg	p.R87Q	MCF2L_ENST00000375597.4_Missense_Mutation_p.R55Q|MCF2L_ENST00000375601.3_Missense_Mutation_p.R61Q|MCF2L_ENST00000397030.1_Missense_Mutation_p.R90Q|MCF2L_ENST00000434480.2_Missense_Mutation_p.R63Q|MCF2L_ENST00000397024.1_Missense_Mutation_p.R55Q|MCF2L_ENST00000535094.2_Missense_Mutation_p.R57Q|MCF2L_ENST00000375604.2_Missense_Mutation_p.R114Q|MCF2L_ENST00000442652.2_Missense_Mutation_p.R87Q|MCF2L_ENST00000421756.1_Missense_Mutation_p.R61Q|MCF2L_ENST00000423482.2_Missense_Mutation_p.R55Q			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like			8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)			CCAGGTGGGCGGGGGCAGGAC	0.612000																								0							SO:0001583	missense			ENST00000375608.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	32.000000	5.122466	0.944290	.	.	ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000430480;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000433807;ENST00000434480;ENST00000409954;ENST00000423482;ENST00000375597;ENST00000397024	T;T;T;T;T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	4.160000	4.160000	0.488620	Cellular retinaldehyde-binding/triple function, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.80259	0.4590	M	0.83774	2.66	0.469810	D	0.999278	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0	D	0.84359	0.0537	10	0.87932	D	0	.	15.586000	0.764820	0.0:0.0:1.0:0.0	.	55;57;114;55;87	E9PDN8;O15068-9;G5E9A1;O15068-4;O15068	.;.;.;.;MCF2L_HUMAN	Q	87;87;114;90;57;57;61;61;63;63;28;55;55;55	ENSP00000364758:R87Q;ENSP00000401422:R87Q;ENSP00000364754:R114Q;ENSP00000380225:R90Q;ENSP00000440374:R57Q;ENSP00000397285:R61Q;ENSP00000364751:R61Q;ENSP00000407722:R63Q;ENSP00000386551:R28Q;ENSP00000405639:R55Q;ENSP00000364747:R55Q	ENSP00000364747:R55Q	R	+	2	0	MCF2L	112726965	1.000000	0.71417	1	0.803570	8.690000e-01	0.498530	5.629000	0.67798	2.037000	0.602320	0.462000	0.415740	CGG		TCGA-FB-AAQ0-01A-31D-A40W-08	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4	1	0	0	26	410	0	84	0	1.127690e-02	0	3	0	84	2		0	0	0	0	0	2	1	1.000000	26	398	0	82	2								-2.642100	1	1	121412	4	31	1	1	2	3	2.375185	1	0.670000	1.880000	0.708995	0.210000	1.300000e-01	1.000000	0.200000	0.392427	0.210000	0	1.700000e-01	1
HECTD1	25831	broad.mit.edu	37	14	31575880	31575880	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr14:31575880C>T	ENST00000399332.1	-	38	7686	c.7198G>A	c.(7198-7200)Ggg>Agg	p.G2400R	HECTD1_ENST00000553700.1_Missense_Mutation_p.G2400R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1			70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)		AGTGGAGGCCCAGAACCTGAT	0.378000																								0							SO:0001583	missense			ENST00000399332.1	0	1	hg19	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	C	24.300000	4.519115	0.854950	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332	T;T	0.41758	0.99;0.99	5.810000	5.810000	0.924710	HECT (4);	0.000000	0.64402	U	0.000001	T	0.64560	0.2609	M	0.77103	2.36	0.807220	D	1.000000	D	0.58620	0.983	P	0.58266	0.836	T	0.66638	-0.5873	10	0.66056	D	0.02	-8.2215	20.069500	0.977160	0.0:1.0:0.0:0.0	.	2400	Q9ULT8	HECD1_HUMAN	R	2400;2402;2400	ENSP00000450697:G2400R;ENSP00000382269:G2400R	ENSP00000261312:G2402R	G	-	1	0	HECTD1	30645631	1.000000	0.71417	1	0.803570	9.930000e-01	0.825480	7.484000	0.81180	2.738000	0.938770	0.655000	0.942530	GGG		TCGA-FB-AAQ0-01A-31D-A40W-08	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1	0	0	0	9	377	0	86	0	9.251385e-01	1	191	0	86	2		0	0	0	0	0	2	1	0.994212	9	375	0	85	2								-2.741956	1	1	0	0		1	0	0	0	2.042792	0	0.670000	1.880000	0.665518	0.060000	2.000000e-02	0.130000	0.070000	0.075800	0.060000	0	4.000000e-02	1.000000e-01
CGRRF1	10668	broad.mit.edu	37	14	55004518	55004518	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr14:55004518T>G	ENST00000216420.7	+	5	781	c.649T>G	c.(649-651)Ttg>Gtg	p.L217V	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1			13					ATATTTACTCTTGGCTCAAGG	0.338000																								0							SO:0001583	missense			ENST00000216420.7	1	1	hg19	CCDS9719.1	.	.	.	.	.	.	.	.	.	.	T	10.820000	1.458727	0.262480	.	.	ENSG00000100532	ENST00000216420	T	0.26810	1.71	5.970000	3.040000	0.351030	.	0.203895	0.42053	D	0.000762	T	0.17789	0.0427	L	0.60455	1.87	0.270230	N	0.964424	B;B	0.31383	0.018;0.321	B;B	0.20577	0.015;0.03	T	0.21415	-1.0246	10	0.15499	T	0.54	-2.8113	5.177600	0.151430	0.1238:0.6109:0.0:0.2653	.	217;217	B2RCX4;Q99675	.;CGRF1_HUMAN	V	217	ENSP00000216420:L217V	ENSP00000216420:L217V	L	+	1	2	CGRRF1	54074268	1.000000	0.71417	9.980000e-01	0.565050	9.920000e-01	0.810270	2.293000	0.43558	0.336000	0.236390	0.477000	0.441520	TTG		TCGA-FB-AAQ0-01A-31D-A40W-08	CGRRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276905.2	1	0	1	102	260	0	85	1	9.988906e-01	8	21	0	85	2		0	0	0	0	0	2	1	1.000000	102	260	0	85	2								-20.000000	1	1	0	0		1	0	0	0	2.042792	0	0.670000	1.880000	0.665518	0.820000	6.900000e-01	0.960000	0.830000	0.831958	0.820000	0	7.500000e-01	9.000000e-01
DICER1	23405	broad.mit.edu	37	14	95572489	95572489	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr14:95572489T>A	ENST00000526495.1	-	20	3167	c.2876A>T	c.(2875-2877)aAa>aTa	p.K959I	DICER1_ENST00000556045.1_5'Flank|DICER1_ENST00000343455.3_Missense_Mutation_p.K959I|DICER1_ENST00000541352.1_Missense_Mutation_p.K959I|DICER1_ENST00000527414.1_Missense_Mutation_p.K959I|DICER1_ENST00000393063.1_Missense_Mutation_p.K959I			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III			75		all_cancers(154;0.0621)|all_epithelial(191;0.223)			GGAAGGAAATTTACTGAGTGG	0.373000			Mis F, N		sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	dicer 1, ribonuclease type III 		E, M, O	0							SO:0001583	missense	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	ENST00000526495.1	1	1	hg19	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	T	23.500000	4.418738	0.835590	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42	5.690000	4.520000	0.553950	Argonaute/Dicer protein, PAZ (4);	0.043854	0.85682	D	0.000000	T	0.22399	0.0540	L	0.31371	0.925	0.807220	D	1.000000	P	0.41748	0.761	P	0.51487	0.671	T	0.01205	-1.1419	10	0.48119	T	0.1	-20.6741	12.864800	0.579340	0.0:0.0:0.1361:0.8639	.	959	Q9UPY3	DICER_HUMAN	I	959	ENSP00000343745:K959I;ENSP00000437256:K959I;ENSP00000376783:K959I;ENSP00000435681:K959I;ENSP00000444719:K959I	ENSP00000343745:K959I	K	-	2	0	DICER1	94642242	1.000000	0.71417	1	0.803570	9.980000e-01	0.957120	6.241000	0.72369	0.952000	0.377980	0.533000	0.621200	AAA		TCGA-FB-AAQ0-01A-31D-A40W-08	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1	1	0	0	24	455	0	84	0	7.748827e-02	0	9	0	84	2		0	0	0	0	0	2	1	1.000000	24	451	0	84	2								-19.999990	1	1	0	0		1	0	0	0	2.042792	0	0.670000	1.880000	0.665518	0.140000	9.000000e-02	0.210000	0.150000	0.152911	0.140000	0	1.100000e-01	1.800000e-01
MKRN3	7681	broad.mit.edu	37	15	23811532	23811532	+	Silent	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr15:23811532G>A	ENST00000314520.3	+	1	1079	c.603G>A	c.(601-603)gcG>gcA	p.A201A	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3			61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)			AAAGCTGGGCGGATGCCATTG	0.592000																								0							SO:0001819	synonymous_variant			ENST00000314520.3	1	1	hg19	CCDS10013.1																																																																																				TCGA-FB-AAQ0-01A-31D-A40W-08	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	1	0	1	54	87	0	26		0	0	0	0	26	2		0	0	0	0	0	2	1	1.000000	52	85	0	26	2								-20.000000	1	1	0	0		1						0.670000	1.880000									0	0
RASGRF1	5923	broad.mit.edu	37	15	79323771	79323771	+	Silent	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr15:79323771G>A	ENST00000419573.3	-	8	1507	c.1233C>T	c.(1231-1233)taC>taT	p.Y411Y	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.Y411Y	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1			71					TGGACTTGGCGTAGTCCAGGC	0.637000																								0							SO:0001819	synonymous_variant			ENST00000419573.3	0	1	hg19	CCDS10309.1																																																																																				TCGA-FB-AAQ0-01A-31D-A40W-08	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	0	0	1	7	52	1	14		0	0	0	1	14	2		0	0	0	0	0	2	0	0.094764	7	51	1	13	13								-13.224300	1	1	121406	5	34	1	0	1	1	1.815200	1	0.670000	1.880000	0.605192	0.300000	1.400000e-01	0.540000	0.290000	0.323665	0.300000	0	2.100000e-01	4.200000e-01
IGF1R	3480	broad.mit.edu	37	15	99482481	99482481	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr15:99482481G>A	ENST00000268035.6	+	18	3960	c.3349G>A	c.(3349-3351)Gga>Aga	p.G1117R	IGF1R_ENST00000558762.1_Missense_Mutation_p.G1116R	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor			63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)	"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	TCAGATGGCCGGAGAGATTGC	0.438000																								0							SO:0001583	missense			ENST00000268035.6	0	1	hg19	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	33.000000	5.261478	0.953680	.	.	ENSG00000140443	ENST00000268035	D	0.88201	-2.35	5.900000	5.900000	0.949860	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000027	D	0.85146	0.5630	N	0.00742	-1.23	0.807220	D	1.000000	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.99	D	0.91434	0.5168	10	0.59425	D	0.04	.	20.282200	0.985200	0.0:0.0:1.0:0.0	.	1116;1117	C9J5X1;P08069	.;IGF1R_HUMAN	R	1117	ENSP00000268035:G1117R	ENSP00000268035:G1117R	G	+	1	0	IGF1R	97300004	1.000000	0.71417	2.400000e-01	0.241380	9.860000e-01	0.746190	9.869000	0.99810	2.806000	0.965610	0.655000	0.942530	GGA		TCGA-FB-AAQ0-01A-31D-A40W-08	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	0	0	0	8	431	0	91	0	4.881664e-02	0	17	0	91	2		0	0	0	0	0	2	1	0.989107	9	428	0	91	2								-2.271178	0	1	121412	2	32	1	0	1	1	1.815200	1	0.670000	1.880000	0.605192	0.040000	1.000000e-02	0.090000	0.050000	0.050857	0.040000	0	2.000000e-02	7.000000e-02
MYH11	4629	broad.mit.edu	37	16	15841926	15841926	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr16:15841926C>T	ENST00000300036.5	-	17	2267	c.2158G>A	c.(2158-2160)Gtc>Atc	p.V720I	MYH11_ENST00000576790.2_Missense_Mutation_p.V720I|MYH11_ENST00000452625.2_Missense_Mutation_p.V727I|MYH11_ENST00000396324.3_Missense_Mutation_p.V727I	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle			123					TCCTGGAAGACGATCCGGTTG	0.647000			T	CBFB	AML										Dom	yes		16	16p13.13-p13.12	4629	myosin, heavy polypeptide 11, smooth muscle		L	0							SO:0001583	missense			ENST00000300036.5	1	1	hg19	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	14.020000	2.410585	0.427150	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	4.820000	4.820000	0.621170	Myosin head, motor domain (2);	0.147580	0.44902	D	0.000402	T	0.61110	0.2321	N	0.26162	0.8	0.807220	D	1.000000	B;B;B;B;B	0.13594	0.008;0.008;0.001;0.008;0.001	B;B;B;B;B	0.17098	0.017;0.01;0.017;0.01;0.01	T	0.59532	-0.7437	10	0.54805	T	0.06	.	16.918000	0.861560	0.0:1.0:0.0:0.0	.	727;720;727;720;727	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	I	720;720;727;727;727	ENSP00000300036:V720I;ENSP00000345136:V720I;ENSP00000379616:V727I;ENSP00000407821:V727I	ENSP00000300036:V720I	V	-	1	0	MYH11	15749427	1.000000	0.71417	9.990000e-01	0.593770	9.290000e-01	0.565000	4.955000	0.63638	2.224000	0.724170	0.561000	0.740990	GTC		TCGA-FB-AAQ0-01A-31D-A40W-08	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	1	0	1	61	293	0	61	0	9.794834e-01	0	32	0	61	2		0	0	0	0	0	2	1	1.000000	60	288	0	59	2								-3.365605	1	1	121412	1	34	1	1	2	3	2.188268	1	0.670000	1.880000	0.689748	0.550000	4.300000e-01	1.000000	0.550000	0.617380	0.550000	0	4.800000e-01	6.900000e-01
IL4R	3566	broad.mit.edu	37	16	27356274	27356274	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr16:27356274C>A	ENST00000395762.2	+	5	553	c.294C>A	c.(292-294)aaC>aaA	p.N98K	IL4R_ENST00000449195.1_Missense_Mutation_p.N98K|IL4R_ENST00000543915.2_Missense_Mutation_p.N98K|IL4R_ENST00000380922.3_Missense_Mutation_p.N83K|IL4R_ENST00000170630.2_Missense_Mutation_p.N98K	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor			33					GTGCGGATAACTATACACTGG	0.642000																								0							SO:0001583	missense			ENST00000395762.2	1	1	hg19	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	c	9.462000	1.093474	0.204710	.	.	ENSG00000077238	ENST00000380925;ENST00000449195;ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	3.400000	-1.070000	0.099680	Interleukin-4 receptor alpha chain, N-terminal (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	2.766520	0.01326	N	0.011099	T	0.09024	0.0223	N	0.22421	0.69	0.093100	N	1.000000	B;P;B	0.40578	0.346;0.722;0.298	B;B;B	0.30316	0.05;0.114;0.029	T	0.15752	-1.0426	10	0.06494	T	0.89	.	2.245900	0.040310	0.1909:0.3504:0.3448:0.1138	.	83;98;98	B4E076;P24394;P24394-2	.;IL4RA_HUMAN;.	K	98;98;98;98;83;98	ENSP00000410322:N98K;ENSP00000379111:N98K;ENSP00000441667:N98K;ENSP00000370309:N83K;ENSP00000170630:N98K	ENSP00000170630:N98K	N	+	3	2	IL4R	27263775	0.006000	0.16342	0	0.037020	2.100000e-02	0.103590	0.000000	0.12993	-0.159000	0.110210	-0.642000	0.039640	AAC		TCGA-FB-AAQ0-01A-31D-A40W-08	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4	1	0	1	110	328	0	87	1	9.952377e-01	13	14	0	87	2		0	0	0	0	0	2	1	1.000000	109	325	0	84	2								-20.000000	1	1	0	0		1	1	2	3	2.188268	1	0.670000	1.880000	0.689748	0.800000	6.700000e-01	1.000000	0.790000	0.829195	0.800000	0	7.300000e-01	9.400000e-01
AMFR	267	broad.mit.edu	37	16	56423115	56423115	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr16:56423115G>C	ENST00000290649.5	-	9	1468	c.1258C>G	c.(1258-1260)Cac>Gac	p.H420D		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase			17					TGGAAGAAGTGATTGTGTTGG	0.423000													Pancreas(2;144 323 39528)											0							SO:0001583	missense			ENST00000290649.5	1	1	hg19	CCDS10758.1	.	.	.	.	.	.	.	.	.	.	G	26.400000	4.738582	0.895730	.	.	ENSG00000159461	ENST00000290649	T	0.16897	2.31	5.920000	5.920000	0.955900	.	0.000000	0.85682	D	0.000000	T	0.43211	0.1237	M	0.77103	2.36	0.807220	D	1.000000	D	0.59767	0.986	P	0.59487	0.858	T	0.21109	-1.0255	10	0.59425	D	0.04	-30.074	20.330000	0.987130	0.0:0.0:1.0:0.0	.	420	Q9UKV5	AMFR2_HUMAN	D	420	ENSP00000290649:H420D	ENSP00000290649:H420D	H	-	1	0	AMFR	54980616	1.000000	0.71417	1	0.803570	9.980000e-01	0.957120	9.835000	0.99442	2.810000	0.967020	0.585000	0.799380	CAC		TCGA-FB-AAQ0-01A-31D-A40W-08	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2	0	0	0	16	464	0	82	1	7.803655e-01	3	82	0	82	2		0	0	0	0	0	2	1	0.999927	16	457	0	80	2								-3.695287	1	0	0	0		1	2	2	4	2.251783	1	0.670000	1.880000	0.694558	0.110000	5.000000e-02	1.000000	0.110000	0.199308	0.110000	0	8.000000e-02	1.600000e-01
USP10	9100	broad.mit.edu	37	16	84806216	84806216	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr16:84806216G>A	ENST00000219473.7	+	12	2181	c.2068G>A	c.(2068-2070)Gtt>Att	p.V690I	USP10_ENST00000570191.1_Missense_Mutation_p.V694I	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10			17					GAAACGATTCGTTTATGAGAA	0.443000																								0							SO:0001583	missense			ENST00000219473.7	1	1	hg19	CCDS45537.1	.	.	.	.	.	.	.	.	.	.	G	10.450000	1.353656	0.245120	.	.	ENSG00000103194	ENST00000219473	T	0.30448	1.53	4.380000	4.380000	0.526670	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	L	0.33293	1	0.807220	D	1.000000	D;P	0.57571	0.98;0.914	P;P	0.49683	0.572;0.619	T	0.03807	-1.1002	10	0.30854	T	0.27	-17.0169	16.296500	0.827760	0.0:0.0:1.0:0.0	.	694;690	Q14694-3;Q14694	.;UBP10_HUMAN	I	690	ENSP00000219473:V690I	ENSP00000219473:V690I	V	+	1	0	USP10	83363717	1.000000	0.71417	7.960000e-01	0.321090	3.350000e-01	0.287300	9.178000	0.94855	2.157000	0.675960	0.563000	0.778840	GTT		TCGA-FB-AAQ0-01A-31D-A40W-08	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1	0	0	1	166	434	1	130	1	9.999676e-01	19	38	1	130	4		0	0	0	0	0	2	1	1.000000	162	426	0	129	2								-20.000000	1	1	120858	2	33	1	1	2	3	2.201369	1	0.670000	1.880000	0.689748	0.880000	7.600000e-01	1.000000	0.880000	0.897134	0.880000	1	8.200000e-01	1
ASPA	443	broad.mit.edu	37	17	3397713	3397713	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr17:3397713A>G	ENST00000263080.2	+	5	862	c.704A>G	c.(703-705)gAa>gGa	p.E235G	ASPA_ENST00000456349.2_Missense_Mutation_p.E235G|SPATA22_ENST00000541913.1_Intron	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase			17				L-Aspartic Acid(DB00128)	CCCCGGGATGAAAATGGAGAA	0.343000																								0							SO:0001583	missense			ENST00000263080.2	0	1	hg19	CCDS11028.1	.	.	.	.	.	.	.	.	.	.	a	13.260000	2.183230	0.385110	.	.	ENSG00000108381	ENST00000456349;ENST00000263080	D;D	0.97850	-4.57;-4.57	5.720000	3.440000	0.393840	.	0.570209	0.20924	N	0.083222	D	0.94434	0.8209	L	0.43646	1.37	0.807220	D	1.000000	B	0.17465	0.022	B	0.15484	0.013	D	0.89317	0.3637	10	0.38643	T	0.18	-6.3778	6.885600	0.241970	0.7727:0.1508:0.0765:0.0	.	235	P45381	ACY2_HUMAN	G	235	ENSP00000409976:E235G;ENSP00000263080:E235G	ENSP00000263080:E235G	E	+	2	0	ASPA	3344463	1.000000	0.71417	9.980000e-01	0.565050	7.290000e-01	0.417350	1.983000	0.40648	0.493000	0.278370	0.528000	0.532280	GAA		TCGA-FB-AAQ0-01A-31D-A40W-08	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207315.1	0	0	0	12	882	0	240	0	0	0	1	0	240	2		0	0	0	0	0	2	1	0.999036	11	871	0	235	2								-3.319207	1	1	0	0		1	0	1	1	1.593930	1	0.670000	1.880000	0.515952	0.020000	0	0.050000	0.030000	0.029465	0.020000	0	1.000000e-02	4.000000e-02
ACLY	47	broad.mit.edu	37	17	40030190	40030190	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr17:40030190G>A	ENST00000352035.2	-	23	2646	c.2516C>T	c.(2515-2517)tCg>tTg	p.S839L	ACLY_ENST00000590151.1_Missense_Mutation_p.S839L|ACLY_ENST00000393896.2_Missense_Mutation_p.S829L|ACLY_ENST00000353196.1_Missense_Mutation_p.S829L|ACLY_ENST00000537919.1_Missense_Mutation_p.S568L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase		NTN1/ACLY(2)	28		Breast(137;0.000143)			GGTCATGAACGAGGCAGGTTT	0.587000													Colon(64;807 1396 15971 30971)											0							SO:0001583	missense			ENST00000352035.2	1	1	hg19	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	G	33.000000	5.265036	0.953990	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.760000	5.760000	0.907990	Citrate synthase-like, core (1);	0.000000	0.85682	D	0.000000	T	0.48114	0.1482	M	0.73217	2.22	0.807220	D	1.000000	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.80764	0.978;0.959;0.994;0.994;0.978	T	0.19321	-1.0309	10	0.35671	T	0.21	.	19.973800	0.972960	0.0:0.0:1.0:0.0	.	568;883;893;829;839	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	L	839;893;829;568;829	ENSP00000253792:S839L;ENSP00000345398:S829L;ENSP00000445349:S568L;ENSP00000377474:S829L	ENSP00000253792:S839L	S	-	2	0	ACLY	37283716	1.000000	0.71417	9.990000e-01	0.593770	9.300000e-01	0.566540	9.720000	0.98763	2.732000	0.935760	0.655000	0.942530	TCG		TCGA-FB-AAQ0-01A-31D-A40W-08	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	0	0	1	82	137	0	43	1	1	65	56	0	43	2		0	0	0	0	0	2	1	1.000000	82	134	0	42	2								-20.000000	1	1	121412	1	27	1	0	3	3	2.191771	1	0.670000	1.880000	0.682753	0.990000	9.600000e-01	1.000000	1.000000	0.998178	0.990000	1	9.900000e-01	1
TP53	7157	broad.mit.edu	37	17	7578235	7578235	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr17:7578235T>G	ENST00000269305.4	-	6	803	c.614A>C	c.(613-615)tAt>tCt	p.Y205S	TP53_ENST00000445888.2_Missense_Mutation_p.Y205S|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y205S|TP53_ENST00000420246.2_Missense_Mutation_p.Y205S|TP53_ENST00000359597.4_Missense_Mutation_p.Y205S|TP53_ENST00000413465.2_Missense_Mutation_p.Y205S	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.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	GTCATCCAAATACTCCACACG	0.542000		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	117	Substitution - Missense(102)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(1)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	1	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	19.820000	3.897640	0.726390	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.410000	4.330000	0.517520	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92738	3.34	0.584320	D	0.999999	P;D;P;P;D;P;P	0.58268	0.766;0.982;0.89;0.954;0.974;0.853;0.943	P;P;P;P;P;P;P	0.61940	0.714;0.829;0.681;0.781;0.896;0.781;0.623	D	0.97292	0.9925	10	0.87932	D	0	-5.8058	9.707000	0.402220	0.0:0.0827:0.0:0.9173	.	166;205;205;112;205;205;205	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	205;205;205;205;205;205;194;112;73;112;73	ENSP00000410739:Y205S;ENSP00000352610:Y205S;ENSP00000269305:Y205S;ENSP00000398846:Y205S;ENSP00000391127:Y205S;ENSP00000391478:Y205S;ENSP00000425104:Y73S;ENSP00000423862:Y112S	ENSP00000269305:Y205S	Y	-	2	0	TP53	7518960	1.000000	0.71417	1.370000e-01	0.221490	4.500000e-02	0.141850	7.996000	0.88334	1.001000	0.390760	-0.256000	0.111000	TAT		TCGA-FB-AAQ0-01A-31D-A40W-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	74	83	0	38	1	9.999997e-01	23	9	0	38	2	1	1	438	521	0	1031	2	1	1.000000	74	83	0	38	2								-20.000000	1	1	0	0		1	0	1	1	1.580041	1	0.670000	1.880000	0.508709	0.920000	7.700000e-01	1.000000	1.000000	0.917715	0.920000	1	8.400000e-01	9.800000e-01
GNAL	2774	broad.mit.edu	37	18	11752449	11752449	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr18:11752449G>A	ENST00000423027.3	+	1	338	c.17G>A	c.(16-18)gGc>gAc	p.G6D	GNAL_ENST00000334049.6_Intron|GNAL_ENST00000269162.5_Missense_Mutation_p.G6D|GNAL_ENST00000535121.1_Missense_Mutation_p.G6D			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type			12					TGTTTGGGCGGCAACAGCAAG	0.557000																								0							SO:0001583	missense			ENST00000423027.3	0	1	hg19	CCDS11852.1	.	.	.	.	.	.	.	.	.	.	G	25.100000	4.599844	0.870550	.	.	ENSG00000141404	ENST00000535121;ENST00000269162;ENST00000423027	D;D;D	0.88975	-2.45;-2.45;-2.45	4.040000	4.040000	0.470220	.	.	.	.	.	D	0.90783	0.7106	L	0.34521	1.04	0.343580	D	0.690637	D	0.57257	0.979	D	0.69654	0.965	D	0.93188	0.6580	9	0.59425	D	0.04	.	15.628700	0.768850	0.0:0.0:1.0:0.0	.	6	P38405	GNAL_HUMAN	D	6	ENSP00000439023:G6D;ENSP00000269162:G6D;ENSP00000408489:G6D	ENSP00000269162:G6D	G	+	2	0	GNAL	11742449	1.000000	0.71417	1	0.803570	9.870000e-01	0.754690	8.928000	0.92853	2.542000	0.857340	0.491000	0.489740	GGC		TCGA-FB-AAQ0-01A-31D-A40W-08	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	0	0	0	8	763	1	82		0	0	0	1	82	2	0	9.350291e-02	0	43	0	23	2	1	0.988760	8	752	0	81	2								-1.947449	0	1	0	0		1						0.670000	1.880000									0	0
NOL4	8715	broad.mit.edu	37	18	31538269	31538269	+	Silent	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr18:31538269G>A	ENST00000261592.5	-	7	1467	c.1170C>T	c.(1168-1170)gaC>gaT	p.D390D	NOL4_ENST00000535384.1_Silent_p.D105D|NOL4_ENST00000269185.4_Silent_p.D276D|NOL4_ENST00000589544.1_Silent_p.D390D|NOL4_ENST00000538587.1_Silent_p.D316D|NOL4_ENST00000535475.1_Silent_p.D235D	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4			51					AATCGTCATGGTCCTCGTGGT	0.493000																								0							SO:0001819	synonymous_variant			ENST00000261592.5	1	1	hg19	CCDS11907.2																																																																																				TCGA-FB-AAQ0-01A-31D-A40W-08	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	0	0	0	23	476	0	161		0	0	0	0	161	2		0	0	0	0	0	2	1	0.999999	23	467	0	154	2								-4.413135	1	1	0	0		1	0	1	1	1.480870	1	0.670000	1.880000	0.508709	0.080000	5.000000e-02	0.130000	0.090000	0.095867	0.080000	0	7.000000e-02	1.100000e-01
TSHZ3	57616	broad.mit.edu	37	19	31769290	31769290	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:31769290A>C	ENST00000240587.4	-	2	1736	c.1409T>G	c.(1408-1410)gTc>gGc	p.V470G		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3			123	Esophageal squamous(110;0.226)				TTCCTTCTTGACCTCCACATT	0.532000																								0							SO:0001583	missense			ENST00000240587.4	1	1	hg19	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	A	10.780000	1.445905	0.259870	.	.	ENSG00000121297	ENST00000240587	T	0.38560	1.13	5.550000	5.550000	0.834470	.	0.238434	0.37669	N	0.001998	T	0.24005	0.0581	N	0.08118	0	0.584320	D	0.999998	P	0.36733	0.567	B	0.33521	0.165	T	0.10268	-1.0637	10	0.23891	T	0.37	-29.7855	15.717800	0.776810	1.0:0.0:0.0:0.0	.	470	Q63HK5	TSH3_HUMAN	G	470	ENSP00000240587:V470G	ENSP00000240587:V470G	V	-	2	0	TSHZ3	36461130	1.000000	0.71417	1	0.803570	9.380000e-01	0.579740	8.930000	0.92872	2.099000	0.637090	0.533000	0.621200	GTC		TCGA-FB-AAQ0-01A-31D-A40W-08	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	0	0	1	139	770	0	220	0	1.713684e-01	0	5	0	220	2		0	0	0	0	0	2	1	1.000000	139	761	0	213	2								-20.000000	1	1	0	0		1	0	1	1	2.069605	0	0.670000	1.880000	0.667774	0.440000	3.800000e-01	0.520000	0.450000	0.455412	0.440000	0	4.100000e-01	4.900000e-01
TSHZ3	57616	broad.mit.edu	37	19	31770055	31770055	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:31770055C>T	ENST00000240587.4	-	2	971	c.644G>A	c.(643-645)cGc>cAc	p.R215H		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3			123	Esophageal squamous(110;0.226)				GTCCTTACAGCGGAACTTGCT	0.612000																								0							SO:0001583	missense			ENST00000240587.4	1	1	hg19	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	22.100000	4.245903	0.800240	.	.	ENSG00000121297	ENST00000240587	T	0.15139	2.45	5.420000	5.420000	0.788660	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.34221	0.0890	L	0.37561	1.115	0.807220	D	1.000000	D	0.71674	0.998	D	0.80764	0.994	T	0.01858	-1.1259	10	0.42905	T	0.14	-25.4075	19.215100	0.937740	0.0:1.0:0.0:0.0	.	215	Q63HK5	TSH3_HUMAN	H	215	ENSP00000240587:R215H	ENSP00000240587:R215H	R	-	2	0	TSHZ3	36461895	1.000000	0.71417	1	0.803570	9.970000e-01	0.918780	7.484000	0.81180	2.509000	0.846160	0.655000	0.942530	CGC		TCGA-FB-AAQ0-01A-31D-A40W-08	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	0	0	0	24	509	0	118		0	0	0	0	118	2		0	0	0	0	0	2	1	1.000000	24	502	0	116	2								-4.487250	1	1	121412	3	38	1	0	1	1	2.069605	0	0.670000	1.880000	0.667774	0.130000	8.000000e-02	0.190000	0.140000	0.138423	0.130000	0	1.000000e-01	1.700000e-01
HAUS5	23354	broad.mit.edu	37	19	36104957	36104957	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:36104957C>G	ENST00000203166.5	+	4	240	c.215C>G	c.(214-216)cCa>cGa	p.P72R	HAUS5_ENST00000379045.2_Missense_Mutation_p.P72R|AC002115.9_ENST00000589603.1_lincRNA	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	p.P72L(1)		16					CAGGACAGTCCACAGGTGAGA	0.537000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000203166.5	1	1	hg19	CCDS42550.1	.	.	.	.	.	.	.	.	.	.	C	19.760000	3.886990	0.724100	.	.	ENSG00000249115	ENST00000203166;ENST00000379045	T;T	0.29917	1.55;1.55	4.980000	4.980000	0.660770	.	0.281001	0.35407	N	0.003229	T	0.32406	0.0828	N	0.08118	0	0.354600	D	0.796479	D	0.67145	0.996	D	0.67382	0.951	T	0.43893	-0.9363	10	0.39692	T	0.17	-11.1042	13.633000	0.622060	0.0:1.0:0.0:0.0	.	72	O94927	HAUS5_HUMAN	R	72	ENSP00000439056:P72R;ENSP00000444373:P72R	ENSP00000439056:P72R	P	+	2	0	HAUS5	40796797	0.955000	0.32602	1	0.803570	8.070000e-01	0.456020	1.249000	0.32839	2.581000	0.871300	0.655000	0.942530	CCA		TCGA-FB-AAQ0-01A-31D-A40W-08	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2	1	0	0	24	307	1	67	0	2.099803e-01	0	21	1	67	3		0	0	0	0	0	2	1	1.000000	25	302	0	63	2								-3.017767	1	1	0	0		1	0	1	1	2.069605	0	0.670000	1.880000	0.667774	0.210000	1.300000e-01	0.310000	0.220000	0.222272	0.210000	0	1.700000e-01	2.600000e-01
ZNF420	147923	broad.mit.edu	37	19	37618172	37618172	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:37618172A>C	ENST00000337995.3	+	5	494	c.279A>C	c.(277-279)aaA>aaC	p.K93N	ZNF420_ENST00000304239.7_Missense_Mutation_p.K93N|CTC-454I21.4_ENST00000587645.1_RNA|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420			27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		TGGAAGCCAAAGGCAAGATGG	0.368000																								0							SO:0001583	missense			ENST00000337995.3	1	1	hg19	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	A	0.010000	-1.743139	0.006750	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	T;T	0.07327	3.2;3.36	2.820000	-0.616000	0.115830	.	.	.	.	.	T	0.03390	0.0098	N	0.11313	0.125	0.093100	N	1.000000	B	0.02656	0.0	B	0.01281	0.0	T	0.43637	-0.9379	9	0.33940	T	0.23	.	0.445600	0.004930	0.4223:0.2249:0.1343:0.2184	.	93	Q8TAQ5	ZN420_HUMAN	N	93	ENSP00000306102:K93N;ENSP00000338770:K93N	ENSP00000306102:K93N	K	+	3	2	ZNF420	42310012	.	.	2.000000e-03	0.105220	1.200000e-02	0.079550	.	.	-0.232000	0.098110	-0.496000	0.046280	AAA		TCGA-FB-AAQ0-01A-31D-A40W-08	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	0	0	0	9	278	0	56	0	3.829231e-03	0	3	0	56	2		0	0	0	0	0	2	1	0.994236	9	276	0	54	2								-3.514007	1	1	0	0		1	0	1	1	2.069605	0	0.670000	1.880000	0.667774	0.090000	4.000000e-02	0.170000	0.100000	0.102419	0.090000	0	6.000000e-02	1.300000e-01
EMP3	2014	broad.mit.edu	37	19	48833591	48833591	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:48833591C>G	ENST00000270221.6	+	5	657	c.356C>G	c.(355-357)gCc>gGc	p.A119G	EMP3_ENST00000596315.1_Missense_Mutation_p.A50G|EMP3_ENST00000597279.1_Missense_Mutation_p.A119G	NM_001425.2	NP_001416.1	P54852	EMP3_HUMAN	epithelial membrane protein 3			1		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203)			TTGATCTATGCCATTCACGCC	0.607000																								0							SO:0001583	missense			ENST00000270221.6	1	1	hg19	CCDS12715.1	.	.	.	.	.	.	.	.	.	.	C	19.820000	3.898759	0.726390	.	.	ENSG00000142227	ENST00000270221	D	0.89123	-2.47	4.350000	3.310000	0.379340	.	0.115317	0.64402	D	0.000015	T	0.82010	0.4944	N	0.22421	0.69	0.389440	D	0.958205	B	0.30542	0.284	B	0.33568	0.166	T	0.82218	-0.0566	10	0.87932	D	0	.	11.387000	0.497910	0.0:0.9088:0.0:0.0912	.	119	P54852	EMP3_HUMAN	G	119	ENSP00000270221:A119G	ENSP00000270221:A119G	A	+	2	0	EMP3	53525403	0.987000	0.35691	9.930000e-01	0.491080	8.370000e-01	0.474670	4.846000	0.62860	1.168000	0.427230	0.561000	0.740990	GCC		TCGA-FB-AAQ0-01A-31D-A40W-08	EMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465613.1	0	0	1	170	359	0	93	1	1	161	231	0	93	2		0	0	0	0	0	2	1	1.000000	168	354	0	91	2								-20.000000	1	1	0	0		1	0	2	2	2.091684	0	0.670000	1.880000	0.670000	0.960000	8.300000e-01	1.000000	1.000000	0.953970	0.960000	1	8.900000e-01	1
SLC17A7	57030	broad.mit.edu	37	19	49935855	49935855	+	Silent	SNP	G	G	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:49935855G>T	ENST00000221485.3	-	9	1242	c.1071C>A	c.(1069-1071)atC>atA	p.I357I	SLC17A7_ENST00000600601.1_Silent_p.I290I|SLC17A7_ENST00000543531.1_Silent_p.I345I	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7			26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)			TCTGGCCGCCGATGGGCACGA	0.672000																								0							SO:0001819	synonymous_variant			ENST00000221485.3	0	1	hg19	CCDS12764.1																																																																																				TCGA-FB-AAQ0-01A-31D-A40W-08	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2	0	0	0	5	107	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	0.931254	5	102	0	25	2								-8.225748	1	1	0	0		1	0	2	2	2.091684	0	0.670000	1.880000	0.670000	0.140000	5.000000e-02	1.000000	0.140000	0.210681	0.140000	0	9.000000e-02	2.400000e-01
LILRA3	11026	broad.mit.edu	37	19	54803682	54803682	+	Silent	SNP	T	T	G			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:54803682T>G	ENST00000251390.3	-	3	233	c.142A>C	c.(142-144)Agg>Cgg	p.R48R	LILRA3_ENST00000391744.3_Silent_p.R48R|LILRA3_ENST00000391745.1_Silent_p.R65R	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3			28	Ovarian(34;0.19)				CCCTGACACCTGAGGGTCACA	0.547000																								0							SO:0001819	synonymous_variant			ENST00000251390.3	1	1	hg19	CCDS12887.1																																																																																				TCGA-FB-AAQ0-01A-31D-A40W-08	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1	1	0	1	137	241	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	1.000000	136	238	0	58	2								-20.000000	1	1	0	0		1	0	2	2	2.091684	0	0.670000	1.880000	0.670000	0.990000	9.300000e-01	1.000000	1.000000	0.995599	0.990000	1	9.900000e-01	1
NLRP9	338321	broad.mit.edu	37	19	56244180	56244180	+	Silent	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:56244180C>T	ENST00000332836.2	-	2	1044	c.1017G>A	c.(1015-1017)acG>acA	p.T339T		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9			74		Colorectal(82;0.000133)|Ovarian(87;0.133)			CCAACCAGCACGTAAAGGGAT	0.413000																								0							SO:0001819	synonymous_variant			ENST00000332836.2	1	1	hg19	CCDS12934.1																																																																																				TCGA-FB-AAQ0-01A-31D-A40W-08	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	1	0	1	99	471	0	137		0	0	0	0	137	2		0	0	0	0	0	2	1	1.000000	99	469	0	133	2								-20.000000	1	1	0	0		1	1	2	3	2.089785	0	0.670000	1.880000	0.671102	0.510000	4.200000e-01	0.620000	0.520000	0.523165	0.510000	0	4.700000e-01	5.700000e-01
PEG3	5178	broad.mit.edu	37	19	57327998	57327998	+	Silent	SNP	G	G	A	rs143113379		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:57327998G>A	ENST00000326441.9	-	10	2175	c.1812C>T	c.(1810-1812)cgC>cgT	p.R604R	PEG3_ENST00000598410.1_Silent_p.R480R|PEG3_ENST00000423103.2_Silent_p.R604R|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Silent_p.R478R|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3			170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)			AGGTTTCCCCGCGCtcacgtt	0.463000																								0							SO:0001819	synonymous_variant			ENST00000326441.9	0	1	hg19	CCDS12948.1																																																																																				TCGA-FB-AAQ0-01A-31D-A40W-08	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2	0	0	0	7	183	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	0.979315	7	178	0	35	2								-3.106865	1	1	121410	4	38	1	1	2	3	2.089785	0	0.670000	1.880000	0.671102	0.110000	4.000000e-02	0.220000	0.110000	0.124476	0.110000	0	7.000000e-02	1.700000e-01
TNFRSF1B	7133	broad.mit.edu	37	1	12251922	12251922	+	Silent	SNP	G	G	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:12251922G>T	ENST00000376259.3	+	4	488	c.399G>T	c.(397-399)ggG>ggT	p.G133G	TNFRSF1B_ENST00000492361.1_3'UTR|TNFRSF1B_ENST00000536782.1_Silent_p.G133G|MIR4632_ENST00000584158.1_RNA	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B			10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		Etanercept(DB00005)	AGCAGGAGGGGTGCCGGCTGT	0.692000																								0							SO:0001819	synonymous_variant			ENST00000376259.3	1	1	hg19	CCDS145.1																																																																																				TCGA-FB-AAQ0-01A-31D-A40W-08	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1	1	0	1	30	99	0	22	0	4.324413e-01	1	5	0	22	2		0	0	0	0	0	2	1	1.000000	30	97	0	22	2								-20.000000	1	1	0	0		1	0	1	1	1.903103	1	0.670000	1.880000	0.618938	0.590000	4.200000e-01	0.790000	0.590000	0.608832	0.590000	0	5.000000e-01	7.000000e-01
ADAMTSL4	54507	broad.mit.edu	37	1	150527952	150527952	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:150527952C>T	ENST00000369038.2	+	6	1483	c.1282C>T	c.(1282-1284)Cgc>Tgc	p.R428C	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R451C|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.R428C|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R428C			Q6UY14	ATL4_HUMAN	ADAMTS-like 4			32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		CCGTGGCTTCCGCTTCTATGT	0.607000																								0							SO:0001583	missense			ENST00000369038.2	0	1	hg19	CCDS955.1	.	.	.	.	.	.	.	.	.	.	C	22.400000	4.291565	0.809140	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.68765	3.82;3.82;-0.35;3.82	4.690000	4.690000	0.590740	.	.	.	.	.	T	0.77631	0.4159	M	0.74647	2.275	0.807220	D	1.000000	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.997;0.999	T	0.80717	-0.1258	9	0.87932	D	0	.	15.163100	0.728010	0.0:1.0:0.0:0.0	.	451;451;428;428	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	C	428;428;451;428	ENSP00000358037:R428C;ENSP00000271643:R428C;ENSP00000358035:R451C;ENSP00000358034:R428C	ENSP00000271643:R428C	R	+	1	0	ADAMTSL4	148794576	1.000000	0.71417	1	0.803570	9.940000e-01	0.842990	3.720000	0.54933	2.426000	0.822430	0.561000	0.740990	CGC		TCGA-FB-AAQ0-01A-31D-A40W-08	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	1	0	0	8	193	0	26	1	4.631670e-01	4	32	0	26	2		0	0	0	0	0	2	1	0.989152	8	190	0	26	2								-3.392392	1	1	0	0		1	1	2	3	2.497402	1	0.670000	1.880000	0.723688	0.160000	6.000000e-02	1.000000	0.140000	0.356559	0.160000	0	1.000000e-01	1
MEF2D	4209	broad.mit.edu	37	1	156437921	156437921	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:156437921G>A	ENST00000348159.4	-	11	1898	c.1418C>T	c.(1417-1419)cCa>cTa	p.P473L	MEF2D_ENST00000340875.5_Missense_Mutation_p.P472L|MEF2D_ENST00000368240.2_Missense_Mutation_p.P466L|MEF2D_ENST00000353795.3_Missense_Mutation_p.P427L|MEF2D_ENST00000360595.3_Missense_Mutation_p.P466L|MEF2D_ENST00000464356.2_Missense_Mutation_p.P465L	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D			15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				TCCCCCGGCTGGGCTGCTGAG	0.706000																								0							SO:0001583	missense			ENST00000348159.4	1	1	hg19	CCDS1143.1	.	.	.	.	.	.	.	.	.	.	G	16.270000	3.075854	0.556460	.	.	ENSG00000116604	ENST00000348159;ENST00000340875;ENST00000368240;ENST00000353795;ENST00000360595;ENST00000454816	T;T;T;T;T;T	0.58652	0.32;0.33;0.33;0.72;0.33;0.32	3.830000	3.830000	0.441060	.	0.187490	0.42420	D	0.000707	T	0.27559	0.0677	N	0.08118	0	0.367200	D	0.881122	P;P;P	0.48911	0.917;0.791;0.867	B;B;P	0.47346	0.401;0.342;0.544	T	0.33240	-0.9876	10	0.66056	D	0.02	-9.2416	8.854300	0.352190	0.0:0.0:0.6507:0.3493	.	478;473;466	Q4LE66;Q14814;Q14814-4	.;MEF2D_HUMAN;.	L	473;472;466;427;466;465	ENSP00000271555:P473L;ENSP00000343159:P472L;ENSP00000357223:P466L;ENSP00000344705:P427L;ENSP00000353803:P466L;ENSP00000388505:P465L	ENSP00000343159:P472L	P	-	2	0	MEF2D	154704545	0.999000	0.42202	8.990000e-01	0.353260	8.450000e-01	0.480190	2.975000	0.49281	1.979000	0.576800	0.313000	0.208870	CCA		TCGA-FB-AAQ0-01A-31D-A40W-08	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080562.2	1	0	0	18	387	0	60	1	7.052322e-01	4	50	0	60	2		0	0	0	0	0	2	1	0.999978	17	376	0	60	2								-3.225353	1	1	0	0		1	1	2	3	2.497402	1	0.670000	1.880000	0.723688	0.170000	9.000000e-02	1.000000	0.160000	0.363063	0.170000	0	1.200000e-01	1
LHX9	56956	broad.mit.edu	37	1	197889248	197889248	+	Silent	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:197889248C>T	ENST00000367387.4	+	2	746	c.321C>T	c.(319-321)tcC>tcT	p.S107S	LHX9_ENST00000367390.3_Silent_p.S98S|LHX9_ENST00000561173.1_Silent_p.S113S|LHX9_ENST00000337020.2_Silent_p.S107S|LHX9_ENST00000367391.1_Silent_p.S98S	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	p.S107S(1)|p.S98S(1)		35					CCCTCGAGTCCGAGCTCACCT	0.557000																								2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000367387.4	0	1	hg19	CCDS1393.1																																																																																				TCGA-FB-AAQ0-01A-31D-A40W-08	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	0	0	0	14	1358	0	264		0	0	0	0	264	2		0	0	0	0	0	2	1	0.999719	13	1338	0	260	2								-1.845314	0	1	0	0		1	1	2	3	2.531334	1	0.670000	1.880000	0.725993	0.030000	0	1.000000	0.030000	0.259257	0.030000	0	1.000000e-02	1
WNT3A	89780	broad.mit.edu	37	1	228238515	228238515	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:228238515G>A	ENST00000284523.1	+	3	550	c.472G>A	c.(472-474)Gac>Aac	p.D158N	WNT3A_ENST00000366753.2_Missense_Mutation_p.D158N	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A			12		Prostate(94;0.0405)			CTGTAGCGAGGACATCGAGTT	0.657000																								0							SO:0001583	missense			ENST00000284523.1	1	1	hg19	CCDS1564.1	.	.	.	.	.	.	.	.	.	.	G	10.010000	1.233798	0.226260	.	.	ENSG00000154342	ENST00000284523;ENST00000366753	T;T	0.73469	-0.75;-0.75	4.780000	3.850000	0.443700	.	0.056503	0.64402	D	0.000002	T	0.60261	0.2255	N	0.12853	0.265	0.807220	D	1.000000	B;B	0.21309	0.054;0.034	B;B	0.37833	0.259;0.084	T	0.51779	-0.8662	10	0.02654	T	1	.	14.934100	0.709380	0.0:0.144:0.856:0.0	.	158;158	P56704;Q3SY79	WNT3A_HUMAN;.	N	158	ENSP00000284523:D158N;ENSP00000355715:D158N	ENSP00000284523:D158N	D	+	1	0	WNT3A	226305138	1.000000	0.71417	1	0.803570	8.840000e-01	0.511770	7.927000	0.87577	1.010000	0.393140	0.591000	0.815410	GAC		TCGA-FB-AAQ0-01A-31D-A40W-08	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	1	0	0	18	285	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	0.999983	18	282	0	45	2								-19.925030	1	1	0	0		1	1	2	3	2.531334	1	0.670000	1.880000	0.725993	0.230000	1.300000e-01	1.000000	0.210000	0.402447	0.230000	0	1.700000e-01	1
HIST3H3	8290	broad.mit.edu	37	1	228612733	228612733	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:228612733C>A	ENST00000366696.1	-	1	293	c.294G>T	c.(292-294)gaG>gaT	p.E98D		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3			6		Prostate(94;0.0724)			CCAGGTAAGACTCGCACGCCT	0.602000																								0							SO:0001583	missense			ENST00000366696.1	1	1	hg19	CCDS1572.1	.	.	.	.	.	.	.	.	.	.	c	11.280000	1.592525	0.283570	.	.	ENSG00000168148	ENST00000366696	T	0.78595	-1.19	3.890000	2.980000	0.345080	Histone-fold (2);Histone core (1);	0.000000	0.40064	N	0.001184	D	0.91808	0.7408	H	0.99972	5.13	0.349840	D	0.754365	P	0.48911	0.917	P	0.53988	0.739	D	0.94532	0.7737	10	0.87932	D	0	.	10.008900	0.419750	0.0:0.8982:0.0:0.1017	.	98	Q16695	H31T_HUMAN	D	98	ENSP00000355657:E98D	ENSP00000355657:E98D	E	-	3	2	HIST3H3	226679356	1.000000	0.71417	9.750000e-01	0.424870	5.000000e-03	0.049000	2.261000	0.43276	1.202000	0.432180	-0.162000	0.134250	GAG		TCGA-FB-AAQ0-01A-31D-A40W-08	HIST3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096595.2	1	0	0	26	446	0	67	0	9.624394e-03	1	2	0	67	2		0	0	0	0	0	2	1	1.000000	26	439	0	64	2								-20.000000	1	1	0	0		1	1	2	3	2.531334	1	0.670000	1.880000	0.725993	0.210000	1.300000e-01	1.000000	0.200000	0.387778	0.210000	0	1.600000e-01	1
PLD5	200150	broad.mit.edu	37	1	242271086	242271086	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:242271086C>T	ENST00000536534.2	-	8	1367	c.1126G>A	c.(1126-1128)Gtt>Att	p.V376I	PLD5_ENST00000427495.1_Missense_Mutation_p.V314I|PLD5_ENST00000442594.2_Missense_Mutation_p.V284I			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5			55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)		CGAACTCTAACGCTTCGTAAA	0.358000																								0							SO:0001583	missense			ENST00000536534.2	1	1	hg19	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	C	13.750000	2.329054	0.411970	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.38240	1.15;1.15;1.15	5.380000	5.380000	0.774910	Phospholipase D/viral envelope (1);	0.067526	0.64402	D	0.000014	T	0.24851	0.0603	L	0.33245	0.995	0.476590	D	0.999489	B;B;B	0.29115	0.108;0.233;0.108	B;B;B	0.20384	0.014;0.029;0.009	T	0.06552	-1.0820	10	0.42905	T	0.14	-16.1879	8.703000	0.343380	0.0:0.8646:0.0:0.1354	.	284;376;314	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	I	314;284;376	ENSP00000401285:V314I;ENSP00000414188:V284I;ENSP00000440896:V376I	ENSP00000401285:V314I	V	-	1	0	PLD5	240337709	0.962000	0.33011	9.950000e-01	0.509660	9.920000e-01	0.810270	2.078000	0.41567	2.497000	0.842410	0.643000	0.837060	GTT		TCGA-FB-AAQ0-01A-31D-A40W-08	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	1	0	1	151	444	0	106	0	0	0	1	0	106	2		0	0	0	0	0	2	1	1.000000	148	442	0	103	2								-20.000000	1	1	121410	1	36	1	1	2	3	2.444263	1	0.670000	1.880000	0.717345	0.900000	7.600000e-01	1.000000	0.880000	0.913425	0.900000	1	8.300000e-01	1
INADL	10207	broad.mit.edu	37	1	62455974	62455974	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:62455974A>C	ENST00000371158.2	+	28	3919	c.3805A>C	c.(3805-3807)Att>Ctt	p.I1269L	INADL_ENST00000316485.6_Missense_Mutation_p.I1269L|INADL_ENST00000545929.1_5'UTR|INADL_ENST00000543708.1_Missense_Mutation_p.I53L	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)			103					TGTGGTGGGAATTAACCCGGA	0.428000																								0							SO:0001583	missense			ENST00000371158.2	1	1	hg19	CCDS617.2	.	.	.	.	.	.	.	.	.	.	A	21.600000	4.175730	0.785640	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000307297;ENST00000543708	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.840000	5.840000	0.934240	PDZ/DHR/GLGF (4);	0.078603	0.51477	D	0.000096	T	0.61664	0.2365	L	0.56396	1.775	0.807220	D	1.000000	B;P;D;D;D	0.57571	0.028;0.911;0.966;0.973;0.98	P;D;D;D;D	0.81914	0.592;0.986;0.991;0.995;0.995	T	0.61028	-0.7145	10	0.48119	T	0.1	.	16.230200	0.823320	1.0:0.0:0.0:0.0	.	53;728;1269;1269;1269	B4DE90;Q8NI35-5;F8W8T2;Q8NI35;Q8NI35-4	.;.;.;INADL_HUMAN;.	L	1269;1269;1269;1269;53;53	ENSP00000360200:I1269L;ENSP00000326199:I1269L;ENSP00000307496:I53L;ENSP00000445790:I53L	ENSP00000307496:I53L	I	+	1	0	INADL	62228562	1.000000	0.71417	1	0.803570	9.070000e-01	0.535730	6.256000	0.72473	2.228000	0.727670	0.533000	0.621200	ATT		TCGA-FB-AAQ0-01A-31D-A40W-08	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	1	0	0	15	268	0	76	1	5.467428e-01	2	31	0	76	2		0	0	0	0	0	2	1	0.999877	15	266	0	74	2								-17.526150	1	1	0	0		1	0	1	1	1.853324	1	0.670000	1.880000	0.615966	0.130000	7.000000e-02	0.210000	0.140000	0.143688	0.130000	0	1.000000e-01	1.800000e-01
CLCA1	1179	broad.mit.edu	37	1	86961301	86961301	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:86961301C>T	ENST00000234701.3	+	13	2407	c.2056C>T	c.(2056-2058)Cgg>Tgg	p.R686W	CLCA1_ENST00000394711.1_Missense_Mutation_p.R686W			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1			38		Lung NSC(277;0.239)			CGCAGCCAGACGGAGAGTGAT	0.453000																								0							SO:0001583	missense			ENST00000234701.3	1	1	hg19	CCDS709.1	.	.	.	.	.	.	.	.	.	.	C	12.510000	1.959770	0.345650	0.0	2.33E-4	ENSG00000016490	ENST00000234701;ENST00000394711	T;T	0.03152	4.03;4.03	5.690000	3.760000	0.432080	.	0.549745	0.17770	N	0.162617	T	0.01523	0.0049	L	0.31926	0.97	0.093100	N	1.000000	B	0.14012	0.009	B	0.13407	0.009	T	0.43360	-0.9396	10	0.44086	T	0.13	-0.0463	16.122200	0.813650	0.0:0.747:0.253:0.0	.	686	A8K7I4	CLCA1_HUMAN	W	686	ENSP00000234701:R686W;ENSP00000378200:R686W	ENSP00000234701:R686W	R	+	1	2	CLCA1	86733889	0.000000	0.05858	2.000000e-03	0.105220	5.000000e-03	0.049000	0.487000	0.22356	0.816000	0.344210	-0.175000	0.132380	CGG		TCGA-FB-AAQ0-01A-31D-A40W-08	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	1	0	1	47	147	0	43	0	8.236657e-01	0	12	0	43	2		0	0	0	0	0	2	1	1.000000	46	147	0	42	2								-20.000000	1	1	121412	11	38	1	0	1	1	1.853324	1	0.670000	1.880000	0.615966	0.610000	4.700000e-01	0.770000	0.620000	0.626173	0.610000	0	5.400000e-01	7.000000e-01
GART	2618	broad.mit.edu	37	21	34878358	34878358	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr21:34878358G>A	ENST00000381831.3	-	19	2769	c.2506C>T	c.(2506-2508)Caa>Taa	p.Q836*	GART_ENST00000381815.4_Nonsense_Mutation_p.Q836*|GART_ENST00000543717.1_Nonsense_Mutation_p.Q388*|GART_ENST00000381839.3_Nonsense_Mutation_p.Q836*	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase			31				Pemetrexed(DB00642)	ATATCAATTTGTGCAGAGCTA	0.418000																								0							SO:0001587	stop_gained			ENST00000381831.3	0	1	hg19	CCDS13627.1	.	.	.	.	.	.	.	.	.	.	G	35.000000	5.492713	0.963390	.	.	ENSG00000159131	ENST00000414353;ENST00000381815;ENST00000381831;ENST00000381839;ENST00000543717	.	.	.	6.170000	1.050000	0.201650	.	0.719210	0.14613	N	0.308899	.	.	.	.	.	.	0.807220	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-0.0033	11.630400	0.511710	0.1168:0.5242:0.359:0.0	.	.	.	.	X	100;836;836;836;388	.	ENSP00000371236:Q836X	Q	-	1	0	GART	33800228	0.634000	0.27190	2.000000e-03	0.105220	4.130000e-01	0.311430	1.309000	0.33539	-0.070000	0.129080	-0.150000	0.136520	CAA		TCGA-FB-AAQ0-01A-31D-A40W-08	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	0	0	0	6	388	1	120	0	4.296804e-02	0	67	1	120	4		0	0	0	0	0	2	0	0.073541	6	380	1	120	13								-4.627458	1	1	0	0		1	0	1	1	1.809860	1	0.670000	1.880000	0.615966	0.030000	0	0.080000	0.040000	0.045276	0.030000	0	2.000000e-02	6.000000e-02
PCBP3	54039	broad.mit.edu	37	21	47355186	47355186	+	Silent	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr21:47355186G>A	ENST00000400314.1	+	14	1214	c.876G>A	c.(874-876)ccG>ccA	p.P292P	PCBP3_ENST00000400304.1_Silent_p.P282P|PRED62_ENST00000593412.1_5'Flank|PCBP3_ENST00000400309.1_Silent_p.P291P|PCBP3_ENST00000449640.1_Silent_p.P292P|PCBP3_ENST00000400310.1_Silent_p.P272P|PCBP3_ENST00000400308.1_Silent_p.P266P			P57721	PCBP3_HUMAN	poly(rC) binding protein 3			17	all_hematologic(128;0.24)				CCAGCCCACCGGCCAGCACTC	0.582000																								0							SO:0001819	synonymous_variant			ENST00000400314.1	1	1	hg19	CCDS42974.2																																																																																				TCGA-FB-AAQ0-01A-31D-A40W-08	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2	1	0	1	20	81	0	32	0	4.312920e-02	0	2	0	32	2		0	0	0	0	0	2	1	0.999997	20	79	0	32	2								-3.540453	1	1	121004	10	39	1	0	1	1	1.729511	1	0.670000	1.880000	0.590418	0.470000	3.100000e-01	0.670000	0.470000	0.487020	0.470000	0	3.800000e-01	5.800000e-01
NEB	4703	broad.mit.edu	37	2	152376273	152376273	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr2:152376273G>A	ENST00000172853.10	-	126	17533	c.17386C>T	c.(17386-17388)Cga>Tga	p.R5796*	NEB_ENST00000603639.1_Nonsense_Mutation_p.R7497*|NEB_ENST00000409198.1_Nonsense_Mutation_p.R5796*|NEB_ENST00000427231.2_Nonsense_Mutation_p.R7497*|NEB_ENST00000604864.1_Nonsense_Mutation_p.R7497*|NEB_ENST00000397345.3_Nonsense_Mutation_p.R7497*			P20929	NEBU_HUMAN	nebulin			301					AAATTTTCTCGGTATTTAACC	0.353000																								0							SO:0001587	stop_gained			ENST00000172853.10	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	58.000000	30.674372	0.999770	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	.	.	.	6.160000	6.160000	0.993070	.	0.109561	0.64402	D	0.000013	.	.	.	.	.	.	0.807220	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	13.670800	0.624240	0.0:0.0:0.7491:0.2509	.	.	.	.	X	5796;7497;7497;1845;2227;5796	.	ENSP00000172853:R5796X	R	-	1	2	NEB	152084519	1.000000	0.71417	1	0.803570	8.900000e-01	0.517540	3.539000	0.53604	2.937000	0.994780	0.650000	0.862430	CGA		TCGA-FB-AAQ0-01A-31D-A40W-08	NEB-201	KNOWN	basic	protein_coding	protein_coding		0	0	0	5	246	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	0.935505	5	243	0	34	2								-2.581310	1	1	120772	1	28	1	0	1	1	1.965343	1	0.670000	1.880000	0.635842	0.050000	1.000000e-02	0.120000	0.050000	0.063998	0.050000	0	3.000000e-02	9.000000e-02
TTN	7273	broad.mit.edu	37	2	179436797	179436797	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr2:179436797G>A	ENST00000591111.1	-	276	69363	c.69139C>T	c.(69139-69141)Cgt>Tgt	p.R23047C	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R22120C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R15623C|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R24688C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R15815C|TTN_ENST00000359218.5_Missense_Mutation_p.R15748C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		GCTGAAACACGGAAAGAGTAT	0.478000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	11.780000	1.740484	0.308650	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	6.070000	5.180000	0.714440	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82986	0.5156	H	0.94306	3.52	0.807220	D	1.000000	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.88470	0.3061	9	0.87932	D	0	.	16.988500	0.863470	0.0:0.0:0.8717:0.1283	.	15623;15748;15815;23047	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	22120;15623;15815;15748;15621	ENSP00000343764:R22120C;ENSP00000434586:R15623C;ENSP00000340554:R15815C;ENSP00000352154:R15748C	ENSP00000340554:R15815C	R	-	1	0	TTN	179145043	1.000000	0.71417	1	0.803570	9.940000e-01	0.842990	5.586000	0.67503	1.556000	0.495120	0.650000	0.862430	CGT		TCGA-FB-AAQ0-01A-31D-A40W-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	43	135	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	1.000000	43	135	0	38	2								-3.917015	1	1	120856	1	23	1	0	1	1	1.965343	1	0.670000	1.880000	0.635842	0.650000	4.900000e-01	0.820000	0.650000	0.659121	0.650000	0	5.600000e-01	7.400000e-01
ABCA12	26154	broad.mit.edu	37	2	215891634	215891634	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr2:215891634C>T	ENST00000272895.7	-	10	1309	c.1090G>A	c.(1090-1092)Gcc>Acc	p.A364T	ABCA12_ENST00000389661.4_Missense_Mutation_p.A46T|AC072062.3_ENST00000437897.3_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12			139		Renal(323;0.127)			TTTAAGAGGGCATCTTCAAAG	0.353000													Ovarian(66;664 1488 5121 34295)											0							SO:0001583	missense			ENST00000272895.7	1	1	hg19	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	11.550000	1.673387	0.296930	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.47528	0.84;0.84	5.780000	2.970000	0.344120	.	0.691400	0.13955	N	0.351234	T	0.22898	0.0553	N	0.08118	0	0.807220	D	1.000000	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.05886	-1.0858	10	0.19590	T	0.45	.	5.212000	0.153220	0.1525:0.6287:0.0:0.2188	.	364;46	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	T	364;46	ENSP00000272895:A364T;ENSP00000374312:A46T	ENSP00000272895:A364T	A	-	1	0	ABCA12	215599879	0.993000	0.37304	9.620000e-01	0.402830	8.780000e-01	0.506290	0.882000	0.28186	0.766000	0.332440	0.655000	0.942530	GCC		TCGA-FB-AAQ0-01A-31D-A40W-08	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	0	0	1	139	532	1	163		0	0	0	1	163	2		0	0	0	0	0	2	1	1.000000	138	526	1	158	15								-20.000000	1	1	0	0		1	0	1	1	1.993592	1	0.670000	1.880000	0.637183	0.550000	4.700000e-01	0.640000	0.560000	0.564331	0.550000	0	5.100000e-01	6.100000e-01
KDM3A	55818	broad.mit.edu	37	2	86693827	86693827	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr2:86693827C>T	ENST00000409556.1	+	11	1705	c.1340C>T	c.(1339-1341)tCg>tTg	p.S447L	KDM3A_ENST00000542128.1_Missense_Mutation_p.S395L|KDM3A_ENST00000485171.1_3'UTR|KDM3A_ENST00000312912.5_Missense_Mutation_p.S447L|KDM3A_ENST00000409064.1_Missense_Mutation_p.S447L			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A			47					CCTTCCCCATCGGATGTTTCA	0.448000													NSCLC(96;1150 1523 6936 46253 49736)											0							SO:0001583	missense			ENST00000409556.1	1	1	hg19	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	C	12.890000	2.073442	0.365660	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	5.650000	5.650000	0.869990	.	0.170906	0.41712	D	0.000825	T	0.42698	0.1214	L	0.27053	0.805	0.093100	N	0.999999	P;P	0.39696	0.683;0.555	B;B	0.29716	0.106;0.049	T	0.45323	-0.9269	10	0.41790	T	0.15	.	16.883400	0.860690	0.0:1.0:0.0:0.0	.	395;447	F5H070;Q9Y4C1	.;KDM3A_HUMAN	L	447;447;447;447;395	ENSP00000386660:S447L;ENSP00000323659:S447L;ENSP00000386516:S447L;ENSP00000438324:S395L	ENSP00000323659:S447L	S	+	2	0	KDM3A	86547338	0.450000	0.25697	2.500000e-02	0.171560	2.480000e-01	0.258090	3.021000	0.49651	2.663000	0.905440	0.563000	0.778840	TCG		TCGA-FB-AAQ0-01A-31D-A40W-08	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	1	0	0	28	485	0	141	1	6.147601e-01	2	35	0	141	2		0	0	0	0	0	2	1	1.000000	28	480	0	137	2								-3.073959	1	1	121410	7	39	1	0	1	1	1.960098	0	0.670000	1.880000	0.638515	0.140000	9.000000e-02	0.210000	0.150000	0.153282	0.140000	0	1.100000e-01	1.800000e-01
MORC1	27136	broad.mit.edu	37	3	108746697	108746697	+	Silent	SNP	G	G	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:108746697G>T	ENST00000483760.1	-	17	1648	c.1605C>A	c.(1603-1605)ggC>ggA	p.G535G	MORC1_ENST00000232603.5_Silent_p.G535G					MORC family CW-type zinc finger 1			105					TGCTCATGGTGCCCAGTGGGA	0.398000																								0							SO:0001819	synonymous_variant			ENST00000483760.1	1	1	hg19																																																																																					TCGA-FB-AAQ0-01A-31D-A40W-08	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1	1	0	0	12	267	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	0.999115	12	264	0	42	2								-3.966566	1	1	121408	2	33	1	0	0	0	2.020690	0	0.670000	1.880000	0.658562	0.120000	6.000000e-02	0.210000	0.130000	0.133220	0.120000	0	9.000000e-02	1.700000e-01
ALG1L	200810	broad.mit.edu	37	3	125649457	125649457	+	Silent	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:125649457C>T	ENST00000340333.3	-	5	454	c.291G>A	c.(289-291)gtG>gtA	p.V97V	FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like			4					CTTCATGTTTCACCAGCTCAT	0.597000																								0							SO:0001819	synonymous_variant			ENST00000340333.3	0	1	hg19	CCDS33840.1																																																																																				TCGA-FB-AAQ0-01A-31D-A40W-08	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	1	0	0	14	197	0	59	0	6.381540e-02	0	6	0	59	2		0	0	0	0	0	2	1	0.999652	13	184	0	71	2								-17.744980	1	1	0	0		1	0	0	0	2.020690	0	0.670000	1.880000	0.658562	0.190000	1.000000e-01	0.300000	0.190000	0.202676	0.190000	0	1.400000e-01	2.500000e-01
CAND2	23066	broad.mit.edu	37	3	12869094	12869094	+	Silent	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:12869094C>T	ENST00000456430.2	+	13	3407	c.3366C>T	c.(3364-3366)taC>taT	p.Y1122Y	CAND2_ENST00000295989.5_Silent_p.Y1005Y	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)			37					AGGACCACTACGACATCCGGG	0.562000													GBM(43;676 868 1633 6395 37496)											0							SO:0001819	synonymous_variant			ENST00000456430.2	1	1	hg19	CCDS54554.1																																																																																				TCGA-FB-AAQ0-01A-31D-A40W-08	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	1	0	1	70	240	0	52		0	0	0	0	52	2	0	0	1	0	0	0	2	1	1.000000	68	235	0	52	2								-20.000000	1	1	120938	2	35	1	0	0	0	2.020690	0	0.670000	1.880000	0.658562	0.640000	5.200000e-01	0.780000	0.650000	0.655444	0.640000	0	5.800000e-01	7.200000e-01
RPL32	6161	broad.mit.edu	37	3	12877678	12877678	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:12877678C>T	ENST00000429711.2	-	4	422	c.323G>A	c.(322-324)cGc>cAc	p.R108H	RPL32_ENST00000396953.2_Missense_Mutation_p.R108H|RPL32_ENST00000396957.1_Missense_Mutation_p.R108H|RPL32_ENST00000435983.1_Missense_Mutation_p.R108H|RPL32_ENST00000273223.6_Missense_Mutation_p.R126H	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN	ribosomal protein L32			6					GATGGCTTTGCGGTTCTTGGA	0.507000																								0							SO:0001583	missense			ENST00000429711.2	0	1	hg19	CCDS2614.1	.	.	.	.	.	.	.	.	.	.	C	22.700000	4.323886	0.815800	.	.	ENSG00000144713	ENST00000429711;ENST00000396957;ENST00000273223;ENST00000435983;ENST00000396953;ENST00000457131	.	.	.	5.410000	5.410000	0.785170	.	0.000000	0.85682	D	0.000000	T	0.65647	0.2711	L	0.58969	1.84	0.807220	D	1.000000	B	0.19817	0.039	B	0.22386	0.039	T	0.62553	-0.6830	9	0.48119	T	0.1	0.0875	17.040800	0.864890	0.0:1.0:0.0:0.0	.	108	P62910	RL32_HUMAN	H	108;108;126;108;108;108	.	ENSP00000339064:R126H	R	-	2	0	RPL32	12852678	1.000000	0.71417	1	0.803570	9.990000e-01	0.989320	5.916000	0.69981	2.684000	0.914620	0.655000	0.942530	CGC		TCGA-FB-AAQ0-01A-31D-A40W-08	RPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252032.2	0	0	0	5	332	0	75	1	1	9	7668	0	75	2		0	0	0	0	0	2	1	0.934489	5	325	0	73	2								-2.435056	0	1	0	0		1	0	0	0	2.020690	0	0.670000	1.880000	0.658562	0.040000	0	0.100000	0.040000	0.050897	0.040000	0	2.000000e-02	7.000000e-02
CNBP	7555	broad.mit.edu	37	3	128889325	128889325	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:128889325G>A	ENST00000422453.2	-	5	665	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	CNBP_ENST00000446936.2_Missense_Mutation_p.R164W|CNBP_ENST00000451728.2_Missense_Mutation_p.R170W|CNBP_ENST00000504813.1_Missense_Mutation_p.R159W|CNBP_ENST00000500450.2_Missense_Mutation_p.R152W|CNBP_ENST00000441626.2_Missense_Mutation_p.R171W|CNBP_ENST00000502976.1_Missense_Mutation_p.R162W	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein			5					GTGCATTCCCGTGCAAGGTGC	0.448000																								0							SO:0001583	missense			ENST00000422453.2	0	1	hg19	CCDS3056.1	.	.	.	.	.	.	.	.	.	.	G	18.200000	3.570676	0.657650	.	.	ENSG00000169714	ENST00000502976;ENST00000422453;ENST00000451728;ENST00000446936;ENST00000500450;ENST00000504813;ENST00000441626	.	.	.	6.080000	6.080000	0.989890	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (3);	0.128051	0.52532	D	0.000070	D	0.83589	0.5287	M	0.82823	2.61	0.584320	D	0.999993	D;D;D	0.76494	0.994;0.993;0.999	P;P;D	0.72338	0.837;0.821;0.977	D	0.84859	0.0818	9	0.87932	D	0	-16.7435	18.165900	0.897270	0.0:0.0:1.0:0.0	.	152;162;169	B4DP17;P62633-2;P62633	.;.;CNBP_HUMAN	W	162;169;170;164;152;159;171	.	ENSP00000410619:R169W	R	-	1	2	CNBP	130372015	1.000000	0.71417	1	0.803570	9.980000e-01	0.957120	6.578000	0.74032	2.894000	0.992530	0.591000	0.815410	CGG		TCGA-FB-AAQ0-01A-31D-A40W-08	CNBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358419.1	0	0	0	6	760	0	152	1	9.533215e-01	4	693	0	152	2		0	0	0	0	0	2	1	0.964629	6	757	0	148	2								-2.347363	0	1	0	0		1	0	0	0	2.020690	0	0.670000	1.880000	0.658562	0.010000	0	0.050000	0.020000	0.025180	0.010000	0	0	4.000000e-02
TRIM42	287015	broad.mit.edu	37	3	140406735	140406735	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:140406735C>T	ENST00000286349.3	+	3	1402	c.1211C>T	c.(1210-1212)tCc>tTc	p.S404F		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42			69					CTAGAAGTGTCCAGGCAGAAG	0.433000																								0							SO:0001583	missense			ENST00000286349.3	1	1	hg19	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	C	13.090000	2.134764	0.377280	.	.	ENSG00000155890	ENST00000286349	T	0.39229	1.09	5.330000	3.430000	0.392720	.	0.666605	0.14463	N	0.318026	T	0.19525	0.0469	N	0.08118	0	0.285550	N	0.911407	B	0.33379	0.41	B	0.28916	0.096	T	0.03784	-1.1004	10	0.56958	D	0.05	-11.2766	5.562800	0.171540	0.1968:0.7047:0.0:0.0985	.	404	Q8IWZ5	TRI42_HUMAN	F	404	ENSP00000286349:S404F	ENSP00000286349:S404F	S	+	2	0	TRIM42	141889425	0.985000	0.35326	1	0.803570	9.910000e-01	0.796840	1.214000	0.32419	2.676000	0.910930	0.555000	0.697020	TCC		TCGA-FB-AAQ0-01A-31D-A40W-08	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	1	0	1	89	221	0	67		0	0	0	0	67	2	1	1	165	357	0	326	2	1	1.000000	89	219	0	66	2								-7.121661	1	1	0	0		1	0	0	0	2.020690	0	0.670000	1.880000	0.658562	0.820000	6.800000e-01	0.970000	0.830000	0.830478	0.820000	0	7.500000e-01	9.000000e-01
DHX36	170506	broad.mit.edu	37	3	154018452	154018452	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:154018452C>T	ENST00000496811.1	-	11	1472	c.1392G>A	c.(1390-1392)atG>atA	p.M464I	DHX36_ENST00000308361.6_Missense_Mutation_p.M464I|DHX36_ENST00000329463.5_Missense_Mutation_p.M464I|DHX36_ENST00000544526.1_Missense_Mutation_p.M464I	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36			35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		CATCCTCCATCATTTCTATAA	0.313000																								0							SO:0001583	missense			ENST00000496811.1	1	1	hg19	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	C	11.930000	1.785057	0.315930	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.02158	4.42;4.42;4.42;4.42;4.42	5.750000	5.750000	0.904690	.	0.149837	0.85682	D	0.000000	T	0.02533	0.0077	L	0.31526	0.94	0.402690	D	0.978263	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.12837	0.008;0.008;0.004	T	0.58364	-0.7649	10	0.21014	T	0.42	.	15.076900	0.720840	0.1418:0.8582:0.0:0.0	.	464;464;464	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	I	464;464;464;464;378	ENSP00000417078:M464I;ENSP00000309296:M464I;ENSP00000444247:M464I;ENSP00000330113:M464I;ENSP00000419862:M378I	ENSP00000309296:M464I	M	-	3	0	DHX36	155501146	1.000000	0.71417	1	0.803570	9.660000e-01	0.646010	3.423000	0.52756	2.866000	0.983850	0.650000	0.862430	ATG		TCGA-FB-AAQ0-01A-31D-A40W-08	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	1	0	0	29	348	0	95	0	3.323271e-01	1	14	0	95	2		0	0	0	0	0	2	1	1.000000	28	345	0	92	2								-3.318794	1	1	0	0		1	0	0	0	2.020690	0	0.670000	1.880000	0.658562	0.220000	1.400000e-01	0.310000	0.220000	0.228059	0.220000	0	1.800000e-01	2.700000e-01
TBC1D9	23158	broad.mit.edu	37	4	141543578	141543578	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr4:141543578C>T	ENST00000442267.2	-	21	3646	c.3572G>A	c.(3571-3573)cGg>cAg	p.R1191Q		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)			31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)			CTGGCCGCTCCGCACCAGGAC	0.662000																								0							SO:0001583	missense			ENST00000442267.2	0	1	hg19	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	C	16.360000	3.101168	0.561830	.	.	ENSG00000109436	ENST00000442267	T	0.07908	3.15	5.010000	4.170000	0.490240	.	0.055070	0.85682	D	0.000000	T	0.03959	0.0111	N	0.12182	0.205	0.584320	D	0.999999	D	0.57257	0.979	B	0.36378	0.223	T	0.53380	-0.8447	10	0.13108	T	0.6	.	13.347400	0.605820	0.0:0.9239:0.0:0.0761	.	1191	Q6ZT07	TBCD9_HUMAN	Q	1191	ENSP00000411197:R1191Q	ENSP00000411197:R1191Q	R	-	2	0	TBC1D9	141763028	1.000000	0.71417	9.710000e-01	0.417170	9.560000e-01	0.617450	5.760000	0.68793	1.109000	0.416800	0.655000	0.942530	CGG		TCGA-FB-AAQ0-01A-31D-A40W-08	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	0	0	0	11	118	0	24	1	4.619758e-02	2	2	0	24	2		0	0	0	0	0	2	1	0.998441	11	116	0	24	2								-16.622210	1	1	121040	1	27	1	0	2	2	2.050351	1	0.670000	1.880000	0.670000	0.280000	1.400000e-01	1.000000	0.260000	0.409961	0.280000	0	2.000000e-01	1
GBA3	57733	broad.mit.edu	37	4	22737642	22737642	+	RNA	SNP	G	G	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr4:22737642G>T	ENST00000503442.1	+	0	188				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)			33					TTGTGTCTGGGACACATTTAC	0.448000																								0											ENST00000503442.1	0	1	hg19																																																																																					TCGA-FB-AAQ0-01A-31D-A40W-08	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2	0	0	0	76	138	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	1.000000	74	135	0	40	2								-20.000000	1	1	0	0		1	0	1	1	1.844112	1	0.670000	1.880000	0.631758	0.940000	7.700000e-01	1.000000	1.000000	0.935231	0.940000	1	8.500000e-01	1
GRID2	2895	broad.mit.edu	37	4	94376883	94376883	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr4:94376883G>A	ENST00000282020.4	+	11	1874	c.1616G>A	c.(1615-1617)cGt>cAt	p.R539H	GRID2_ENST00000510992.1_Missense_Mutation_p.R444H	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2			100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)			TTTACGACACGTTACATGGAC	0.443000																								0							SO:0001583	missense			ENST00000282020.4	0	1	hg19	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	31.000000	5.086141	0.941000	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.27402	1.67;1.67	5.970000	5.970000	0.969550	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.59851	0.2224	M	0.74881	2.28	0.807220	D	1.000000	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.59198	-0.7499	10	0.66056	D	0.02	.	20.438700	0.991070	0.0:0.0:1.0:0.0	.	444;539	E9PH24;O43424	.;GRID2_HUMAN	H	539;444	ENSP00000282020:R539H;ENSP00000421257:R444H	ENSP00000282020:R539H	R	+	2	0	GRID2	94595906	1.000000	0.71417	9.980000e-01	0.565050	9.950000e-01	0.863560	9.869000	0.99810	2.836000	0.977380	0.655000	0.942530	CGT		TCGA-FB-AAQ0-01A-31D-A40W-08	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2	0	0	0	9	388	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	0.994343	10	387	0	69	2								-3.042159	1	1	121412	2	32	1	0	1	1	1.921047	1	0.670000	1.880000	0.630376	0.050000	2.000000e-02	0.110000	0.060000	0.066697	0.050000	0	4.000000e-02	9.000000e-02
PCDHB13	56123	broad.mit.edu	37	5	140594777	140594777	+	Missense_Mutation	SNP	C	C	T	rs148992616		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr5:140594777C>T	ENST00000341948.4	+	1	1269	c.1082C>T	c.(1081-1083)gCg>gTg	p.A361V		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	p.A361V(1)		66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		CCTGAGAACGCGCCTGAAACT	0.448000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000341948.4	1	1	hg19	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	c	16.740000	3.206586	0.583430	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.03663	3.85	3.500000	2.590000	0.310300	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.08447	0.0210	M	0.66506	2.035	0.093100	N	1.000000	P	0.48911	0.917	P	0.49252	0.604	T	0.15752	-1.0426	9	0.66056	D	0.02	.	8.138100	0.310670	0.0:0.7799:0.0:0.2201	.	361	Q9Y5F0	PCDBD_HUMAN	V	361	ENSP00000345491:A361V	ENSP00000345491:A361V	A	+	2	0	PCDHB13	140574961	0.000000	0.05858	0	0.037020	8.350000e-01	0.473330	1.135000	0.31454	0.550000	0.289910	0.298000	0.197480	GCG		TCGA-FB-AAQ0-01A-31D-A40W-08	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	0	0	0	28	1032	0	243	0	2.421628e-02	0	9	0	243	2		0	0	0	0	0	2	1	1.000000	27	1020	0	240	2								-2.683679	1	1	0	0		1	1	2	3	2.163442	0	0.670000	1.880000	0.676502	0.070000	4.000000e-02	1.000000	0.080000	0.126166	0.070000	0	6.000000e-02	1.000000e-01
UTRN	7402	broad.mit.edu	37	6	144759999	144759999	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr6:144759999A>C	ENST00000367545.3	+	11	1360	c.1360A>C	c.(1360-1362)Aaa>Caa	p.K454Q		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin			148		Ovarian(120;0.218)			TGATGATGTAAAATCTCTACA	0.433000																								0							SO:0001583	missense			ENST00000367545.3	1	1	hg19	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	3.826000	-0.036673	0.074970	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.47869	0.83	5.410000	-8.380000	0.009730	.	1.903270	0.02816	N	0.124960	T	0.07143	0.0181	N	0.00926	-1.1	0.093100	N	0.999998	B	0.02656	0.0	B	0.11329	0.006	T	0.09487	-1.0672	10	0.26408	T	0.33	.	16.917000	0.861540	0.1863:0.6844:0.1293:0.0	.	454	P46939	UTRO_HUMAN	Q	454	ENSP00000356515:K454Q	ENSP00000356499:K454Q	K	+	1	0	UTRN	144801692	0.904000	0.30761	0	0.037020	0	0.004340	0.546000	0.23284	-1.159000	0.028070	-1.164000	0.017630	AAA		TCGA-FB-AAQ0-01A-31D-A40W-08	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1	1	0	1	66	148	0	54	0	9.720089e-02	0	2	0	54	2		0	0	0	0	0	2	1	1.000000	65	146	0	53	2								-20.000000	1	1	0	0		1	0	0	0	1.833958	1	0.670000	1.880000	0.624744	0.800000	6.400000e-01	0.970000	0.810000	0.811570	0.800000	0	7.200000e-01	8.900000e-01
IYD	389434	broad.mit.edu	37	6	150715311	150715311	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr6:150715311G>A	ENST00000344419.3	+	4	747	c.607G>A	c.(607-609)Gca>Aca	p.A203T	IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase			15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)		TGGTTTCGCCGCAAATGGCAA	0.433000																								0							SO:0001583	missense			ENST00000344419.3	0	1	hg19	CCDS5227.1	.	.	.	.	.	.	.	.	.	.	g	5.689000	0.311597	0.107890	2.27E-4	0.0	ENSG00000009765	ENST00000229447;ENST00000344419;ENST00000392256;ENST00000392255;ENST00000500320;ENST00000425615	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	6.170000	2.100000	0.271820	Nitroreductase-like (3);	0.509560	0.22264	N	0.062376	T	0.43055	0.1230	L	0.46885	1.475	0.093100	N	1.000000	B;B;B;B	0.20261	0.004;0.043;0.001;0.002	B;B;B;B	0.18561	0.003;0.022;0.001;0.005	T	0.24548	-1.0157	10	0.27785	T	0.31	-23.7178	1.245200	0.019710	0.2372:0.2256:0.3896:0.1475	.	121;203;203;203	Q2VPV9;C9JFW2;Q6PHW0-3;Q6PHW0	.;.;.;IYD1_HUMAN	T	203;203;203;203;203;148	ENSP00000229447:A203T;ENSP00000343763:A203T;ENSP00000376085:A203T;ENSP00000376084:A203T;ENSP00000441276:A203T;ENSP00000390081:A148T	ENSP00000229447:A203T	A	+	1	0	IYD	150757004	0.019000	0.18553	1.000000e-03	0.086480	1.740000e-01	0.228650	0.255000	0.18333	0.496000	0.279040	-0.119000	0.150520	GCA		TCGA-FB-AAQ0-01A-31D-A40W-08	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3	0	0	0	6	440	0	126	0	2.662797e-03	0	5	0	126	2		0	0	0	0	0	2	1	0.963719	6	434	0	125	2								-1.972326	0	1	121412	3	38	1	0	0	0	1.833958	1	0.670000	1.880000	0.624744	0.030000	0	0.070000	0.040000	0.040920	0.030000	0	1.000000e-02	6.000000e-02
TIAM2	26230	broad.mit.edu	37	6	155575617	155575617	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr6:155575617C>T	ENST00000461783.3	+	28	5651	c.4378C>T	c.(4378-4380)Cgt>Tgt	p.R1460C	TIAM2_ENST00000360366.4_Missense_Mutation_p.R1484C|RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000275246.7_Missense_Mutation_p.R385C|TIAM2_ENST00000367174.2_Missense_Mutation_p.R836C|TIAM2_ENST00000318981.5_Missense_Mutation_p.R1460C|TIAM2_ENST00000528391.2_Missense_Mutation_p.R796C|TIAM2_ENST00000456144.1_Missense_Mutation_p.R1489C|TIAM2_ENST00000456877.2_Missense_Mutation_p.R772C|TIAM2_ENST00000529824.2_Missense_Mutation_p.R1489C			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2			65		Ovarian(120;0.196)			GAACTTCAGGCGTCACATAAA	0.458000																								0							SO:0001583	missense			ENST00000461783.3	1	1	hg19	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	23.300000	4.400918	0.831200	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246	T;T;T;T;T;T;T;T;T	0.13778	3.1;2.94;3.1;2.91;3.04;2.94;2.92;2.69;2.56	5.660000	4.770000	0.609230	.	0.051437	0.85682	D	0.000000	T	0.25382	0.0617	M	0.66939	2.045	0.547530	D	0.999982	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.997;0.994	T	0.03077	-1.1075	10	0.72032	D	0.01	.	14.045500	0.647020	0.151:0.849:0.0:0.0	.	796;1489;1484;1460	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	C	1460;1706;1489;1460;836;1484;1489;772;796;385	ENSP00000437188:R1460C;ENSP00000407746:R1489C;ENSP00000327315:R1460C;ENSP00000356142:R836C;ENSP00000353528:R1484C;ENSP00000433348:R1489C;ENSP00000407183:R772C;ENSP00000435335:R796C;ENSP00000275246:R385C	ENSP00000275246:R385C	R	+	1	0	TIAM2	155617309	1.000000	0.71417	9.970000e-01	0.539660	9.920000e-01	0.810270	4.413000	0.59795	1.342000	0.456190	0.650000	0.862430	CGT		TCGA-FB-AAQ0-01A-31D-A40W-08	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	1	0	0	81	226	0	76	0	1.747724e-01	0	3	0	76	2		0	0	0	0	0	2	1	1.000000	80	226	0	76	2								-5.666547	1	1	121412	4	38	1	0	0	0	1.833958	1	0.670000	1.880000	0.624744	0.680000	5.600000e-01	0.820000	0.690000	0.695263	0.680000	0	6.200000e-01	7.600000e-01
IGF2R	3482	broad.mit.edu	37	6	160517606	160517606	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr6:160517606C>T	ENST00000356956.1	+	45	6939	c.6791C>T	c.(6790-6792)gCc>gTc	p.A2264V	RP11-288H12.3_ENST00000569097.1_RNA|IGF2R_ENST00000475584.1_3'UTR	NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor			95		Breast(66;0.000777)|Ovarian(120;0.0305)		Mecasermin(DB01277)	CACGAGACTGCCGACTGCCAG	0.537000																								0							SO:0001583	missense			ENST00000356956.1	0	1	hg19	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	17.810000	3.481500	0.638490	.	.	ENSG00000197081	ENST00000356956	T	0.02103	4.45	5.690000	4.820000	0.621170	Mannose-6-phosphate receptor, binding (1);	0.169864	0.51477	D	0.000085	T	0.02571	0.0078	M	0.83692	2.655	0.352290	D	0.776725	P	0.43231	0.801	B	0.41036	0.346	T	0.48896	-0.8994	10	0.30078	T	0.28	-15.7351	16.128700	0.814120	0.1347:0.8653:0.0:0.0	.	2264	P11717	MPRI_HUMAN	V	2264	ENSP00000349437:A2264V	ENSP00000349437:A2264V	A	+	2	0	IGF2R	160437596	1.000000	0.71417	9.630000e-01	0.404240	3.470000e-01	0.291110	5.962000	0.70364	1.389000	0.465260	-0.169000	0.133240	GCC		TCGA-FB-AAQ0-01A-31D-A40W-08	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	0	0	0	5	384	1	69	0	3.922370e-03	0	99	1	69	7		0	0	0	0	0	2	1	0.934008	5	375	0	66	2								-2.560631	1	1	0	0		1	0	0	0	1.833958	1	0.670000	1.880000	0.624744	0.030000	0	0.080000	0.030000	0.040067	0.030000	0	1.000000e-02	6.000000e-02
TAP1	6890	broad.mit.edu	37	6	32820990	32820990	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr6:32820990C>T	ENST00000354258.4	-	1	765	c.604G>A	c.(604-606)Gtc>Atc	p.V202I	PSMB9_ENST00000395330.1_Intron|PSMB9_ENST00000374859.2_5'Flank|PSMB9_ENST00000453265.2_5'Flank|TAP1_ENST00000425148.2_5'Flank	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)			21				Lapatinib(DB01259)	GCATAACTGACAACGAAGGCG	0.657000																								0							SO:0001583	missense			ENST00000354258.4	0	1	hg19	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	C	10.410000	1.341922	0.243390	.	.	ENSG00000168394	ENST00000354258	D	0.86865	-2.18	4.340000	0.387000	0.162590	.	2.688260	0.01391	N	0.013250	T	0.55513	0.1925	N	0.14661	0.345	0.506320	D	0.999887	B	0.12013	0.005	B	0.04013	0.001	T	0.54344	-0.8308	10	0.15499	T	0.54	.	3.260700	0.068480	0.097:0.3375:0.4054:0.1601	.	202	Q03518	TAP1_HUMAN	I	202	ENSP00000346206:V202I	ENSP00000346206:V202I	V	-	1	0	TAP1	32928968	0.868000	0.29978	4.800000e-02	0.189610	1.200000e-02	0.079550	0.734000	0.26101	-0.139000	0.114140	-0.185000	0.129090	GTC		TCGA-FB-AAQ0-01A-31D-A40W-08	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	1	0	1	7	57	0	21	1	9.826765e-01	14	50	0	21	2		0	0	0	0	0	2	1	0.980538	6	56	0	21	2								-13.124120	1	1	0	0		1	0	0	0	1.907416	0	0.670000	1.880000	0.638515	0.310000	1.400000e-01	0.550000	0.290000	0.327435	0.310000	0	2.100000e-01	4.300000e-01
SLC35B2	347734	broad.mit.edu	37	6	44223304	44223304	+	Silent	SNP	A	A	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr6:44223304A>T	ENST00000393812.3	-	4	581	c.438T>A	c.(436-438)ggT>ggA	p.G146G	SLC35B2_ENST00000393810.1_Nonstop_Mutation_p.*95R|SLC35B2_ENST00000538577.1_Silent_p.G53G|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000537814.1_Silent_p.G13G|SLC35B2_ENST00000495706.1_5'UTR	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2			15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		TAAAGCGCTCACCCGGTGATG	0.572000																								0							SO:0001819	synonymous_variant			ENST00000393812.3	0	1	hg19	CCDS34462.1	.	.	.	.	.	.	.	.	.	.	A	0.730000	-0.780181	0.029290	.	.	ENSG00000157593	ENST00000393810	.	.	.	5.790000	-11.600000	0.000590	.	.	.	.	.	.	.	.	.	.	.	0.807220	D	1.000000	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.7141	1.373600	0.022150	0.1841:0.2603:0.2932:0.2624	.	.	.	.	R	95	.	.	X	-	1	0	SLC35B2	44331282	0.000000	0.05858	1.820000e-01	0.231180	7.910000e-01	0.447100	-3.600000	0.00418	-2.176000	0.007700	-0.379000	0.068010	TGA		TCGA-FB-AAQ0-01A-31D-A40W-08	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2	0	0	0	104	207	1	55	1	9.999999e-01	47	39	1	55	7		0	0	0	0	0	2	1	1.000000	101	204	0	52	2								-20.000000	1	1	0	0		1	0	0	0	1.864756	1	0.670000	1.880000	0.630376	0.880000	7.500000e-01	1.000000	1.000000	0.890164	0.880000	1	8.100000e-01	9.600000e-01
LRRC17	10234	broad.mit.edu	37	7	102585031	102585031	+	Missense_Mutation	SNP	G	G	A	rs117261467	byFrequency	TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr7:102585031G>A	ENST00000339431.4	+	4	1598	c.1303G>A	c.(1303-1305)Gta>Ata	p.V435I	FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379306.3_Intron|LRRC17_ENST00000485478.1_3'UTR|LRRC17_ENST00000249377.4_3'UTR	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17			17					GAAGCAAAGCGTAATAATTAC	0.318000																								0							SO:0001583	missense			ENST00000339431.4	1	1	hg19	CCDS34721.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	22.800000	4.337605	0.819110	0.0	0.001628	ENSG00000128606	ENST00000339431	T	0.59638	0.25	6.030000	6.030000	0.978120	.	0.000000	0.52532	D	0.000068	T	0.58061	0.2096	M	0.62723	1.935	0.807220	D	1.000000	D	0.58268	0.982	B	0.41374	0.355	T	0.57183	-0.7855	10	0.27785	T	0.31	-22.2805	20.556800	0.993040	0.0:0.0:1.0:0.0	.	435	Q8N6Y2	LRC17_HUMAN	I	435	ENSP00000344242:V435I	ENSP00000344242:V435I	V	+	1	0	LRRC17	102372267	1.000000	0.71417	1	0.803570	9.620000e-01	0.633680	3.860000	0.55995	2.861000	0.982270	0.655000	0.942530	GTA		TCGA-FB-AAQ0-01A-31D-A40W-08	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347930.1	1	0	1	73	231	0	61	0	2.474385e-01	0	4	0	61	2		0	0	0	0	0	2	1	1.000000	71	228	0	59	2								-2.858997	1	1	121404	178	53	1	1	2	3	2.139247	0	0.670000	1.880000	0.674364	0.720000	5.800000e-01	1.000000	0.730000	0.738149	0.720000	0	6.500000e-01	8.100000e-01
OR9A4	130075	broad.mit.edu	37	7	141618819	141618819	+	Silent	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr7:141618819C>T	ENST00000548136.1	+	1	203	c.144C>T	c.(142-144)gtC>gtT	p.V48V	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4			22	Melanoma(164;0.0171)				TCATGATTGTCTGTGTGGATA	0.453000																								0							SO:0001819	synonymous_variant			ENST00000548136.1	1	1	hg19	CCDS43661.1																																																																																				TCGA-FB-AAQ0-01A-31D-A40W-08	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	0	0	0	20	691	0	118		0	0	0	0	118	2		0	0	0	0	0	2	1	0.999995	20	686	0	117	2								-3.268250	1	1	0	0		1	1	2	3	2.139247	0	0.670000	1.880000	0.674364	0.080000	4.000000e-02	1.000000	0.080000	0.115251	0.080000	0	6.000000e-02	1.100000e-01
XKR4	114786	broad.mit.edu	37	8	56015735	56015735	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr8:56015735C>A	ENST00000327381.6	+	1	787	c.687C>A	c.(685-687)agC>agA	p.S229R		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4			34			Epithelial(17;0.000117)|all cancers(17;0.000836)		CGGCCAACAGCGGCAGCAACA	0.647000																								0							SO:0001583	missense			ENST00000327381.6	1	1	hg19	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	C	9.671000	1.146600	0.212880	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.82984	-1.67	4.540000	1.580000	0.234770	.	0.630387	0.15645	N	0.251674	T	0.69522	0.3120	N	0.22421	0.69	0.268130	N	0.968955	B	0.27286	0.174	B	0.31751	0.135	T	0.53753	-0.8394	10	0.12103	T	0.63	-2.5041	9.169000	0.370690	0.0:0.8629:0.0:0.1371	.	229	Q5GH76	XKR4_HUMAN	R	229	ENSP00000328326:S229R	ENSP00000328326:S229R	S	+	3	2	XKR4	56178289	0.971000	0.33674	9.970000e-01	0.539660	9.160000e-01	0.546740	0.523000	0.22925	0.117000	0.181380	0.555000	0.697020	AGC		TCGA-FB-AAQ0-01A-31D-A40W-08	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	1	0	1	64	169	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1.000000	63	165	0	53	2								-20.000000	1	1	0	0		1	1	2	3	2.130070	0	0.670000	1.880000	0.674364	0.830000	6.600000e-01	1.000000	0.830000	0.838494	0.830000	0	7.400000e-01	9.300000e-01
CYP7A1	1581	broad.mit.edu	37	8	59404241	59404241	+	Silent	SNP	G	G	C			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr8:59404241G>C	ENST00000301645.3	-	6	1445	c.1308C>G	c.(1306-1308)ccC>ccG	p.P436P		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1			34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)			CCGATCCAAAGGGCATGTAGT	0.353000									Neonatal Giant Cell Hepatitis															0							SO:0001819	synonymous_variant	Familial Cancer Database	Neonatal Hemochromatosis	ENST00000301645.3	1	1	hg19	CCDS6171.1																																																																																				TCGA-FB-AAQ0-01A-31D-A40W-08	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	1	0	1	219	446	0	168		0	0	0	0	168	2		0	0	0	0	0	2	1	1.000000	219	442	0	164	2								-17.452620	1	1	0	0		1	1	2	3	2.130070	0	0.670000	1.880000	0.674364	0.990000	8.800000e-01	1.000000	1.000000	0.977004	0.990000	1	9.300000e-01	1
PREX2	80243	broad.mit.edu	37	8	69033248	69033248	+	Missense_Mutation	SNP	C	C	T	rs143386950		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr8:69033248C>T	ENST00000288368.4	+	30	3965	c.3688C>T	c.(3688-3690)Cgg>Tgg	p.R1230W		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2			178					CAGCAGCGTCCGGACTCTTGC	0.383000																								0							SO:0001583	missense			ENST00000288368.4	1	1	hg19	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	32.000000	5.154857	0.946860	2.27E-4	2.33E-4	ENSG00000046889	ENST00000288368	T	0.37752	1.18	5.820000	5.820000	0.927950	.	0.203092	0.44483	D	0.000444	T	0.34279	0.0892	N	0.22421	0.69	0.525010	D	0.999950	P	0.48694	0.914	P	0.44561	0.453	T	0.14448	-1.0472	10	0.72032	D	0.01	.	20.099100	0.978650	0.0:1.0:0.0:0.0	.	1230	Q70Z35	PREX2_HUMAN	W	1230	ENSP00000288368:R1230W	ENSP00000288368:R1230W	R	+	1	2	PREX2	69195802	1.000000	0.71417	1	0.803570	9.990000e-01	0.989320	4.666000	0.61554	2.752000	0.944350	0.655000	0.942530	CGG		TCGA-FB-AAQ0-01A-31D-A40W-08	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	1	0	1	120	239	0	81	0	6.506496e-01	0	6	0	81	2		0	0	0	0	0	2	1	1.000000	118	237	0	79	2								-11.606190	1	1	121412	10	40	1	1	2	3	2.096078	0	0.670000	1.880000	0.671102	0.990000	8.500000e-01	1.000000	1.000000	0.971483	0.990000	1	9.200000e-01	1
ZFHX4	79776	broad.mit.edu	37	8	77765105	77765105	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr8:77765105G>A	ENST00000521891.2	+	10	6396	c.5948G>A	c.(5947-5949)cGt>cAt	p.R1983H	ZFHX4_ENST00000518282.1_Missense_Mutation_p.R1957H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R1938H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R1938H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	p.R1983H(2)		432			BRCA - Breast invasive adenocarcinoma(89;0.0895)		AAATTTGCTCGTCAATACAGG	0.458000										HNSCC(33;0.089)														2	Substitution - Missense(2)						SO:0001583	missense			ENST00000521891.2	1	1	hg19	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	14.060000	2.423068	0.430200	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50813	0.73;0.78;0.74;0.74	4.200000	4.200000	0.495250	.	0.000000	0.44483	U	0.000460	T	0.49966	0.1588	M	0.62723	1.935	0.432710	D	0.995226	P;P;P	0.46020	0.796;0.871;0.871	B;B;B	0.42361	0.215;0.385;0.385	T	0.60747	-0.7202	10	0.66056	D	0.02	.	17.142000	0.867560	0.0:0.0:1.0:0.0	.	1938;1938;1983	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	H	1983;1983;1938;1938;1957	ENSP00000430497:R1983H;ENSP00000399605:R1938H;ENSP00000050961:R1938H;ENSP00000430848:R1957H	ENSP00000050961:R1938H	R	+	2	0	ZFHX4	77927660	1.000000	0.71417	9.990000e-01	0.593770	9.960000e-01	0.888480	5.860000	0.69546	2.365000	0.801450	0.539000	0.681880	CGT		TCGA-FB-AAQ0-01A-31D-A40W-08	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	1	0	1	49	114	0	30	0	0	0	1	0	30	2		0	0	0	0	0	2	1	1.000000	48	113	0	29	2								-20.000000	1	1	120850	7	42	1	0	0	0	2.047479	0	0.670000	1.880000	0.665518	0.880000	6.800000e-01	1.000000	1.000000	0.881237	0.880000	1	7.700000e-01	9.900000e-01
C9orf139	401563	broad.mit.edu	37	9	139929195	139929195	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr9:139929195T>A	ENST00000314330.2	+	3	1776	c.262T>A	c.(262-264)Tgt>Agt	p.C88S	FUT7_ENST00000314412.6_5'Flank|RP11-229P13.20_ENST00000457302.2_lincRNA	NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139			3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)		CCTTCCTGTTTGTGCTGCCAG	0.677000																								0							SO:0001583	missense			ENST00000314330.2	1	1	hg19	CCDS7023.1	.	.	.	.	.	.	.	.	.	.	t	9.954000	1.221083	0.224570	.	.	ENSG00000180539	ENST00000314330	T	0.55052	0.54	2.950000	2.950000	0.342190	.	.	.	.	.	T	0.41834	0.1176	N	0.08118	0	0.241950	N	0.995533	P	0.50272	0.933	P	0.52909	0.713	T	0.19257	-1.0311	9	0.87932	D	0	.	7.693500	0.285810	0.0:0.0:0.0:1.0	.	88	Q6ZV77	CI139_HUMAN	S	88	ENSP00000318119:C88S	ENSP00000318119:C88S	C	+	1	0	C9orf139	139049016	0.991000	0.36638	9.560000e-01	0.395120	7.200000e-02	0.168830	2.380000	0.44327	1.588000	0.499710	0.241000	0.179340	TGT		TCGA-FB-AAQ0-01A-31D-A40W-08	C9orf139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055213.2	1	0	0	176	179	0	90		0	0	0	0	90	2		0	0	0	0	0	2	1	1.000000	174	175	0	86	2								-20.000000	1	1	0	0		1	0	1	1	1.489689	1	0.670000	1.880000	0.508709	0.960000	8.700000e-01	1.000000	1.000000	0.964882	0.960000	1	9.200000e-01	1
DMD	1756	broad.mit.edu	37	X	32486730	32486730	+	Missense_Mutation	SNP	C	C	T	rs139772014		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chrX:32486730C>T	ENST00000357033.4	-	23	3253	c.3047G>A	c.(3046-3048)cGg>cAg	p.R1016Q	DMD_ENST00000378677.2_Missense_Mutation_p.R1012Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin			77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)			TTGATATTTCCGGCTAATTTC	0.433000																								0							SO:0001583	missense			ENST00000357033.4	1	1	hg19	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	2.255000	-0.370542	0.050690	0.0	2.97E-4	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.48201	0.82;0.82	5.120000	-5.380000	0.026730	.	0.767750	0.10141	N	0.710788	T	0.21022	0.0506	N	0.02539	-0.55	0.093100	N	1.000000	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.31420	-0.9944	10	0.14252	T	0.57	.	17.640600	0.881350	0.0:0.1026:0.0:0.8974	.	1008;1016;1012	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	Q	1008;1012;1016;1016;893	ENSP00000367948:R1012Q;ENSP00000354923:R1016Q	ENSP00000354923:R1016Q	R	-	2	0	DMD	32396651	0.282000	0.24268	0	0.037020	4.000000e-03	0.042600	0.582000	0.23834	-1.546000	0.017170	-0.276000	0.100850	CGG		TCGA-FB-AAQ0-01A-31D-A40W-08	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	1	0	1	16	131	0	42	0	1.369128e-02	0	2	0	42	2		0	0	0	0	0	2	1	0.999947	16	130	0	40	2								-3.076678	1	1	121374	10	38	1	0	1	1			0.670000	1.880000	0.670000	0.160000	9.000000e-02	0.250000	0.160000	0.169716	0.160000	0	1.200000e-01	2.100000e-01
