Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SRSF7	6432	broad.mit.edu	37	2	38976812	38976812	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr2:38976812G>A	ENST00000313117.6	-	3	482	c.245C>T	c.(244-246)tCg>tTg	p.S82L	SRSF7_ENST00000409276.1_Missense_Mutation_p.S82L|SRSF7_ENST00000446327.2_Missense_Mutation_p.S82L	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	82	RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CATGCCTGTCGATAGTTCAAC	0.393000													19	41					0	0	0.006122	0	0
ZFHX4	79776	broad.mit.edu	37	8	77690483	77690483	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr8:77690483T>C	ENST00000521891.2	+	4	3581	c.3133T>C	c.(3133-3135)Tgc>Cgc	p.C1045R	ZFHX4_ENST00000518282.1_Missense_Mutation_p.C1019R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.C1019R|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000455469.2_Missense_Mutation_p.C1019R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1019						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCCCGAATCCTGCTATTACTA	0.488000										HNSCC(33;0.089)			21	151					0	0	0.010504	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121691548	121691548	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr7:121691548A>T	ENST00000393386.2	+	24	6562	c.6151A>T	c.(6151-6153)Aag>Tag	p.K2051*	PTPRZ1_ENST00000449182.1_Nonsense_Mutation_p.K1184*	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2051	Tyrosine-protein phosphatase 2.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CAACAGGGAAAAGAATCGAAC	0.348000													28	60					0	0	0.007291	0	0
ATP8B3	148229	broad.mit.edu	37	19	1784856	1784856	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr19:1784856G>A	ENST00000539485.1	-	28	3885	c.3652C>T	c.(3652-3654)Cga>Tga	p.R1218*	ATP8B3_ENST00000310127.6_Nonsense_Mutation_p.R1208*|ATP8B3_ENST00000525591.1_Nonsense_Mutation_p.R1171*			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1208					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGATGACTCGGAGGGCCAGG	0.622000													3	23					0	0	0.004672	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477209	110477209	+	Silent	SNP	G	G	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr8:110477209G>T	ENST00000378402.5	+	49	8252	c.8148G>T	c.(8146-8148)ctG>ctT	p.L2716L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2716					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.L2718L(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGATGAACTGGGAATGGGGT	0.473000										HNSCC(38;0.096)			44	113					8.20599e-20	1.21512e-19	0.011902	1	0
SEC14L5	9717	broad.mit.edu	37	16	5058627	5058627	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr16:5058627G>T	ENST00000251170.7	+	14	1958	c.1778G>T	c.(1777-1779)tGc>tTc	p.C593F		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	593	GOLD.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CCCCTTGTCTGCCGGGAGGGG	0.637000													22	83					1.96895e-08	2.7073e-08	0.002780	1	0
ZNF112	7665	broad.mit.edu	37	19	44832521	44832521	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr19:44832521G>T	ENST00000354340.4	-	4	1840	c.1789C>A	c.(1789-1791)Cac>Aac	p.H597N	ZNF112_ENST00000536500.1_Missense_Mutation_p.H620N|ZNF112_ENST00000337401.4_Missense_Mutation_p.H603N	NM_013380.3	NP_037512.3			zinc finger protein 112																		TCTCCAGTGTGAACTCTCTGA	0.478000													25	111					2.79863e-10	3.99064e-10	0.004656	1	0
GTF2E1	2960	broad.mit.edu	37	3	120469828	120469828	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr3:120469828G>T	ENST00000283875.5	+	2	522	c.429G>T	c.(427-429)caG>caT	p.Q143H		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	143					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		AAGCTAATCAGCTCTTTGATC	0.353000													10	45					4.68919e-08	6.33452e-08	0.008291	1	0
ZNF792	126375	broad.mit.edu	37	19	35450296	35450296	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr19:35450296G>T	ENST00000404801.1	-	4	849	c.463C>A	c.(463-465)Ccc>Acc	p.P155T	ZNF792_ENST00000605484.1_Missense_Mutation_p.P88T	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TTCTGCCTGGGATGTGTTGTC	0.507000													76	112					3.00167e-28	4.53194e-28	0.014410	1	0
PRB4	5545	broad.mit.edu	37	12	11461743	11461743	+	Silent	SNP	T	T	C			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr12:11461743T>C	ENST00000279575.1	-	3	207	c.174A>G	c.(172-174)caA>caG	p.Q58Q	PRB4_ENST00000535904.1_Silent_p.Q58Q|PRB4_ENST00000445719.2_Silent_p.Q58Q	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	58	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGGGTGGTCCTTGTGGCTTTC	0.622000										HNSCC(22;0.051)			94	290					0	0	0.014410	0	0
TTLL11	158135	broad.mit.edu	37	9	124751527	124751527	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr9:124751527C>T	ENST00000321582.5	-	4	1673	c.1486G>A	c.(1486-1488)Gtc>Atc	p.V496I	TTLL11_ENST00000373776.3_Missense_Mutation_p.V496I|TTLL11_ENST00000474723.1_5'UTR	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	496	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						TGGTAGAAGACTTTGAGCTCT	0.562000													14	77					0	0	0.002450	0	0
ESRRB	2103	broad.mit.edu	37	14	76965245	76965245	+	Silent	SNP	G	G	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr14:76965245G>A	ENST00000261532.7	+	8	1545	c.1473G>A	c.(1471-1473)ccG>ccA	p.P491P	ESRRB_ENST00000380887.2_Intron|RP11-187O7.3_ENST00000554926.1_lincRNA|ESRRB_ENST00000509242.1_Intron			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TTTTCCTTCCGCAGAGGGCAG	0.587000													12	31					0	0	0.013537	0	0
NALCN	259232	broad.mit.edu	37	13	101714441	101714441	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr13:101714441C>T	ENST00000251127.6	-	41	4715	c.4634G>A	c.(4633-4635)cGg>cAg	p.R1545Q		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1545						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAAGCTCTTCCGGATGTCCAC	0.542000													13	43					0	0	0.001855	0	0
KCNK9	51305	broad.mit.edu	37	8	140630972	140630972	+	Silent	SNP	C	C	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr8:140630972C>T	ENST00000520439.1	-	2	717	c.654G>A	c.(652-654)ccG>ccA	p.P218P	KCNK9_ENST00000303015.1_Silent_p.P218P			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	218						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CCACGTAGAGCGGCTTCTTCT	0.557000													20	99					0	0	0.014323	0	0
VSIG8	391123	broad.mit.edu	37	1	159827930	159827930	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr1:159827930C>T	ENST00000368100.1	-	3	515	c.380G>A	c.(379-381)cGg>cAg	p.R127Q	RP11-190A12.7_ENST00000544342.1_Intron	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	127	Ig-like V-type 1.					integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					CTTCTTCACCCGGCACTCATA	0.562000													7	34					0	0	0.001984	0	0
MAP1A	4130	broad.mit.edu	37	15	43815758	43815758	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr15:43815758G>T	ENST00000382031.1	+	5	2832	c.2801G>T	c.(2800-2802)cGg>cTg	p.R934L	MAP1A_ENST00000300231.5_Missense_Mutation_p.R696L|MAP1A_ENST00000399453.1_Missense_Mutation_p.R696L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	696						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCAAGGAGCCGGGAGGCTTTT	0.547000													7	24					8.12818e-05	9.62877e-05	0.001984	1	0
DMD	1756	broad.mit.edu	37	X	31200900	31200900	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chrX:31200900T>C	ENST00000357033.4	-	68	10135	c.9929A>G	c.(9928-9930)cAg>cGg	p.Q3310R	DMD_ENST00000361471.4_Missense_Mutation_p.Q242R|DMD_ENST00000378680.2_Missense_Mutation_p.Q242R|DMD_ENST00000378702.4_Missense_Mutation_p.Q242R|DMD_ENST00000541735.1_Missense_Mutation_p.Q850R|DMD_ENST00000378723.3_Missense_Mutation_p.Q242R|DMD_ENST00000474231.1_Missense_Mutation_p.Q850R|DMD_ENST00000378707.3_Missense_Mutation_p.Q850R|DMD_ENST00000359836.1_Missense_Mutation_p.Q850R|DMD_ENST00000378677.2_Missense_Mutation_p.Q3306R|DMD_ENST00000343523.2_Missense_Mutation_p.Q850R	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3310	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	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)				ACATTTGGCCTGATGCTTGGC	0.458000													3	57					0	0	0.004672	0	0
CLIP3	25999	broad.mit.edu	37	19	36515479	36515479	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr19:36515479A>G	ENST00000360535.4	-	7	964	c.737T>C	c.(736-738)cTg>cCg	p.L246P	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.L246P	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	246					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGCCTTGTCCAGGGACATGTC	0.612000													3	59					0	0	0.004672	0	0
PTPN3	5774	broad.mit.edu	37	9	112200446	112200446	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr9:112200446C>T	ENST00000412145.1	-	3	2695	c.142G>A	c.(142-144)Gat>Aat	p.D48N	PTPN3_ENST00000262539.3_Missense_Mutation_p.D70N|PTPN3_ENST00000446349.1_Missense_Mutation_p.D48N|PTPN3_ENST00000374541.2_Missense_Mutation_p.D179N	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	179	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TCATTTTGATCGGGTATAAAG	0.433000													13	49					0	0	0.013537	0	0
PLXND1	23129	broad.mit.edu	37	3	129284253	129284253	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr3:129284253C>T	ENST00000393239.1	-	25	4629	c.4451G>A	c.(4450-4452)cGg>cAg	p.R1484Q	PLXND1_ENST00000324093.4_Missense_Mutation_p.R1484Q			Q9Y4D7	PLXD1_HUMAN	plexin D1	1484					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CTCTGTGCGCCGCAGCATGAG	0.602000													14	103					0	0	0.002450	0	0
DTNA	1837	broad.mit.edu	37	18	32443990	32443990	+	Silent	SNP	A	A	G			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr18:32443990A>G	ENST00000283365.9	+	16	1806	c.1455A>G	c.(1453-1455)ctA>ctG	p.L485L	DTNA_ENST00000599844.1_Silent_p.*163*|DTNA_ENST00000444659.1_Silent_p.L542L|DTNA_ENST00000601125.1_Silent_p.L164L|DTNA_ENST00000597674.1_Silent_p.L164L|DTNA_ENST00000596745.1_Silent_p.L292L|DTNA_ENST00000556414.3_Silent_p.L194L|DTNA_ENST00000348997.5_Silent_p.L539L|DTNA_ENST00000598774.1_Silent_p.L485L|DTNA_ENST00000269192.7_Silent_p.L251L|DTNA_ENST00000399097.3_Silent_p.L190L|DTNA_ENST00000399121.5_Silent_p.L482L|DTNA_ENST00000591182.1_Silent_p.L190L|DTNA_ENST00000269190.7_Silent_p.L543L|DTNA_ENST00000598142.1_Silent_p.L485L|DTNA_ENST00000598334.1_Silent_p.L482L|DTNA_ENST00000595022.1_Silent_p.L482L|DTNA_ENST00000597599.1_Silent_p.L482L|DTNA_ENST00000399113.3_Silent_p.L542L|DTNA_ENST00000269191.6_Silent_p.L542L	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	542					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GGAGAGAGCTAATGGTCCAGT	0.458000													7	8					0	0	0.003080	0	0
PTPRC	5788	broad.mit.edu	37	1	198723447	198723447	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr1:198723447G>T	ENST00000367376.2	+	32	3724	c.3553G>T	c.(3553-3555)Gaa>Taa	p.E1185*	PTPRC_ENST00000352140.3_Nonsense_Mutation_p.E1137*|PTPRC_ENST00000442510.2_Nonsense_Mutation_p.E1187*|PTPRC_ENST00000594404.1_Nonsense_Mutation_p.E1024*|PTPRC_ENST00000348564.6_Nonsense_Mutation_p.E1026*	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1185	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AAATCTCTTAGAAAGTGCGGA	0.383000													13	31					0.00136819	0.00159623	0.013537	1	0
LINC00969	440993	broad.mit.edu	37	3	195404651	195404651	+	RNA	SNP	C	C	G	rs1996904	by1000genomes	TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr3:195404651C>G	ENST00000445430.1	+	0	1508																											TGTCACGAATCTTGACAAATT	0.418000													3	37					0	0	0.003080	0	0
POLG	5428	broad.mit.edu	37	15	89871966	89871966	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr15:89871966G>A	ENST00000268124.5	-	5	1453	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*	POLG_ENST00000442287.2_Nonsense_Mutation_p.R374*	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	374					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			AACAGTTCTCGAGGCTCCTTC	0.567000								DNA polymerases (catalytic subunits)					8	187					0	0	0.003080	0	0
PRKAR1B	5575	broad.mit.edu	37	7	635848	635848	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr7:635848C>T	ENST00000406797.1	-	7	817	c.643G>A	c.(643-645)Gtg>Atg	p.V215M	PRKAR1B_ENST00000544935.1_Missense_Mutation_p.V215M|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.V215M|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.V215M|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.V215M	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	215					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		TTGGCTTTCACGGTCGCAGCC	0.622000													19	63					0	0	0.007413	0	0
CSMD3	114788	broad.mit.edu	37	8	113649178	113649178	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr8:113649178C>T	ENST00000297405.5	-	22	3827	c.3583G>A	c.(3583-3585)Ggg>Agg	p.G1195R	CSMD3_ENST00000455883.2_Missense_Mutation_p.G1091R|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1195R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1155R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1195	Sushi 6.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGTTGAACCCGATTCGACTA	0.473000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	60					0	0	0.013537	0	0
POLE	5426	broad.mit.edu	37	12	133215740	133215740	+	Silent	SNP	G	G	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr12:133215740G>A	ENST00000320574.5	-	40	5566	c.5523C>T	c.(5521-5523)ctC>ctT	p.L1841L	POLE_ENST00000535270.1_Silent_p.L1814L|POLE_ENST00000434528.3_5'UTR	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1841					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TCATGTTGTGGAGTGTGCGGT	0.582000								DNA polymerases (catalytic subunits)			OREG0022269	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	35					0	0	0.010729	0	0
DNAH17	8632	broad.mit.edu	37	17	76526453	76526453	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr17:76526453G>A	ENST00000389840.5	-	21	3380	c.3256C>T	c.(3256-3258)Cgg>Tgg	p.R1086W	DNAH17_ENST00000585328.1_Missense_Mutation_p.R1083W					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTCAGGTGCCGCTTGAACATG	0.627000													15	40					0	0	0.003163	0	0
CAMK2D	817	broad.mit.edu	37	4	114469879	114469879	+	Silent	SNP	A	A	G			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr4:114469879A>G	ENST00000454265.2	-	6	1206	c.348T>C	c.(346-348)tgT>tgC	p.C116C	CAMK2D_ENST00000394526.2_Silent_p.C116C|CAMK2D_ENST00000394522.3_Silent_p.C116C|CAMK2D_ENST00000429180.1_Silent_p.C116C|CAMK2D_ENST00000505990.1_Intron|CAMK2D_ENST00000296402.5_Silent_p.C116C|CAMK2D_ENST00000342666.5_Silent_p.C116C|CAMK2D_ENST00000511664.1_Intron|CAMK2D_ENST00000514328.1_Silent_p.C116C|CAMK2D_ENST00000418639.2_Silent_p.C116C|CAMK2D_ENST00000379773.2_Silent_p.C116C|CAMK2D_ENST00000394524.3_Silent_p.C116C|CAMK2D_ENST00000508738.1_Silent_p.C116C|CAMK2D_ENST00000515496.1_Silent_p.C116C			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	116	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TCTGCTGTATACAATGACTGC	0.358000													6	14					0	0	0.001168	0	0
ALS2CL	259173	broad.mit.edu	37	3	46728524	46728524	+	Silent	SNP	G	G	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr3:46728524G>A	ENST00000318962.4	-	5	566	c.483C>T	c.(481-483)caC>caT	p.H161H	ALS2CL_ENST00000415953.1_Silent_p.H161H	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	161					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		ACTGTTGCACGTGATGGGCGA	0.677000													11	15					0	0	0.001855	0	0
BUB1	699	broad.mit.edu	37	2	111399701	111399701	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr2:111399701A>C	ENST00000535254.1	-	19	2465	c.2398T>G	c.(2398-2400)Tta>Gta	p.L800V	BUB1_ENST00000409311.1_Missense_Mutation_p.L820V|BUB1_ENST00000302759.6_Missense_Mutation_p.L820V|BUB1_ENST00000478175.1_5'UTR	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	820	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TTTACCTTTAAAACAAATTTC	0.353000													3	17					0	0	0.004672	0	0
CADM2	253559	broad.mit.edu	37	3	85775646	85775646	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr3:85775646C>A	ENST00000405615.2	+	1	15	c.15C>A	c.(13-15)ttC>ttA	p.F5L	CADM2_ENST00000407528.2_Intron|CADM2_ENST00000383699.3_Intron	NM_153184.3	NP_694854.2	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	0					adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TTGTTCTCTTCTTGTGCAACC	0.353000													12	56					2.27111e-07	2.96399e-07	0.013537	1	0
LRP1B	53353	broad.mit.edu	37	2	141081499	141081499	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr2:141081499T>G	ENST00000389484.3	-	81	13448	c.12477A>C	c.(12475-12477)aaA>aaC	p.K4159N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4159					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCAAAACACCTTTTGTTTTAT	0.269000										TSP Lung(27;0.18)			15	27					0	0	0.004007	0	0
GRIP1	23426	broad.mit.edu	37	12	66786267	66786267	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr12:66786267C>A	ENST00000359742.4	-	19	2525	c.2285G>T	c.(2284-2286)aGc>aTc	p.S762I	GRIP1_ENST00000286445.7_Missense_Mutation_p.S762I|GRIP1_ENST00000398016.3_Missense_Mutation_p.S710I			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	762					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CTTCTTGGGGCTCGATGCTGA	0.453000													13	99					9.31168e-06	1.13809e-05	0.001855	1	0
CIC	23152	broad.mit.edu	37	19	42793503	42793503	+	Silent	SNP	G	G	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr19:42793503G>A	ENST00000572681.2	+	9	4100	c.4032G>A	c.(4030-4032)acG>acA	p.T1344T	CIC_ENST00000160740.3_Silent_p.T435T|CIC_ENST00000575354.2_Silent_p.T435T			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGGACATGACGAGTGATGAGG	0.642000			"""Mis, F, S"""		oligodendroglioma								9	22					0	0	0.004482	0	0
KIF1A	547	broad.mit.edu	37	2	241737138	241737138	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr2:241737138C>T	ENST00000498729.2	-	2	278	c.32G>A	c.(31-33)cGg>cAg	p.R11Q	KIF1A_ENST00000320389.7_Missense_Mutation_p.R11Q	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	11	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	p.R11Q(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGGGCGGACCCGCACCGCCAC	0.602000													6	15					0	0	0.001168	0	0
TP53BP1	7158	broad.mit.edu	37	15	43705366	43705366	+	Silent	SNP	G	G	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr15:43705366G>A	ENST00000263801.3	-	24	5493	c.5241C>T	c.(5239-5241)agC>agT	p.S1747S	TP53BP1_ENST00000382044.4_Silent_p.S1752S|TP53BP1_ENST00000450115.2_Silent_p.S1750S|TP53BP1_ENST00000382039.3_Silent_p.S1702S	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1747	BRCT 1.				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GTTTGGAGCGGCTGGCCAACT	0.537000								Other conserved DNA damage response genes					3	64					0	0	0.004672	0	0
OR5M8	219484	broad.mit.edu	37	11	56258616	56258616	+	Silent	SNP	A	A	G			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr11:56258616A>G	ENST00000327216.2	-	1	255	c.231T>C	c.(229-231)acT>acC	p.T77T		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GCATCTTTGGAGTCACATTGG	0.468000													8	89					0	0	0.006214	0	0
DUOX1	53905	broad.mit.edu	37	15	45439652	45439652	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr15:45439652G>A	ENST00000321429.4	+	20	2751	c.2344G>A	c.(2344-2346)Gac>Aac	p.D782N	DUOX1_ENST00000561166.1_Missense_Mutation_p.D428N|DUOX1_ENST00000389037.3_Missense_Mutation_p.D782N	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	782					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CAACCAGGCCGACGCAGGGAC	0.637000													3	19					0	0	0.000602	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													3	82					0	0	0.009096	0	0
DIAPH3	81624	broad.mit.edu	37	13	60384961	60384961	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr13:60384961G>A	ENST00000400324.4	-	25	3344	c.3124C>T	c.(3124-3126)Cgc>Tgc	p.R1042C	DIAPH3_ENST00000400319.1_Missense_Mutation_p.R972C|DIAPH3_ENST00000377908.2_Missense_Mutation_p.R1031C|DIAPH3_ENST00000400330.1_Missense_Mutation_p.R1042C|DIAPH3_ENST00000267215.4_Missense_Mutation_p.R1042C|DIAPH3_ENST00000400320.1_Missense_Mutation_p.R996C|DIAPH3_ENST00000465066.1_5'UTR	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	1042					actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TTTTGTTGGCGTTCGAGTCTT	0.323000													3	33					0	0	0.009096	0	0
ZFHX3	463	broad.mit.edu	37	16	72821618	72821618	+	Silent	SNP	A	A	G	rs112443847		TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr16:72821618A>G	ENST00000268489.5	-	10	11229	c.10557T>C	c.(10555-10557)ggT>ggC	p.G3519G	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2605G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3519	Poly-Gly.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.G3519G(3)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccaccgccgccgc	0.716000													3	41					0	0	0.009096	0	0
DISP1	84976	broad.mit.edu	37	1	223177009	223177009	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr1:223177009C>A	ENST00000284476.6	+	8	2434	c.2270C>A	c.(2269-2271)tCg>tAg	p.S757*		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	757					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	p.S757W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GTGTTCCGGTCGTCCCATCCT	0.463000													12	67					1.08611e-07	1.4419e-07	0.010729	1	0
AP1G1	164	broad.mit.edu	37	16	71784153	71784153	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr16:71784153A>G	ENST00000299980.4	-	14	1808	c.1367T>C	c.(1366-1368)gTc>gCc	p.V456A	AP1G1_ENST00000433195.2_Missense_Mutation_p.V479A|AP1G1_ENST00000423132.2_Missense_Mutation_p.V459A|AP1G1_ENST00000393512.3_Missense_Mutation_p.V459A|AP1G1_ENST00000569748.1_Missense_Mutation_p.V456A	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	456					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				CAGGCGCTGGACAGTATAGGC	0.378000													19	157					0	0	0.012319	0	0
TDRD1	56165	broad.mit.edu	37	10	115962045	115962045	+	Silent	SNP	G	G	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr10:115962045G>A	ENST00000251864.2	+	6	837	c.684G>A	c.(682-684)gaG>gaA	p.E228E	TDRD1_ENST00000369281.2_Silent_p.E228E|TDRD1_ENST00000369282.1_Silent_p.E228E|TDRD1_ENST00000369280.1_Silent_p.E228E|TDRD1_ENST00000422662.1_5'UTR	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	228					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AGGATGTGGAGGTAAACAATA	0.264000													11	21					0	0	0.013537	0	0
CNOT1	23019	broad.mit.edu	37	16	58633241	58633241	+	Translation_Start_Site	SNP	T	T	C			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr16:58633241T>C	ENST00000317147.5	-	2	333	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	CNOT1_ENST00000569240.1_Start_Codon_SNP_p.M1V|CNOT1_ENST00000441024.2_Start_Codon_SNP_p.M1V	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TCAAGATTCATTGCTGGTTGG	0.498000													20	56					0	0	0.010504	0	0
CDC23	8697	broad.mit.edu	37	5	137548688	137548688	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr5:137548688T>A	ENST00000394886.2	-	2	256	c.226A>T	c.(226-228)Att>Ttt	p.I76F	CDC23_ENST00000505120.1_Missense_Mutation_p.I76F|CDC23_ENST00000394884.3_Missense_Mutation_p.I76F	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	76					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACCTCTGTAATAGGCGGAGGC	0.572000													13	81					0	0	0.001855	0	0
PCSK5	5125	broad.mit.edu	37	9	78973755	78973755	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr9:78973755C>T	ENST00000545128.1	+	37	6038	c.5500C>T	c.(5500-5502)Cgg>Tgg	p.R1834W		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CACAGTCTACCGGAAATTTAA	0.478000													25	105					0	0	0.004656	0	0
HS3ST5	222537	broad.mit.edu	37	6	114379098	114379098	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr6:114379098C>A	ENST00000312719.5	-	5	1552	c.364G>T	c.(364-366)Gaa>Taa	p.E122*	RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Nonsense_Mutation_p.E122*|RP3-399L15.3_ENST00000523087.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	122					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		AAGTGGATTTCTTGAGAGGCT	0.443000													16	72					1.3612e-06	1.69053e-06	0.003163	1	0
DSC2	1824	broad.mit.edu	37	18	28651727	28651727	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr18:28651727C>T	ENST00000280904.6	-	13	2412	c.1969G>A	c.(1969-1971)Ggc>Agc	p.G657S	DSC2_ENST00000251081.6_Missense_Mutation_p.G657S	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	657	Cadherin 5.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CTAGACATGCCAAGTCTATCT	0.408000													9	16					0	0	0.004482	0	0
TNRC18	84629	broad.mit.edu	37	7	5410483	5410483	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr7:5410483G>T	ENST00000399537.4	-	11	4090	c.3742C>A	c.(3742-3744)Cag>Aag	p.Q1248K	TNRC18_ENST00000430969.1_Missense_Mutation_p.Q1248K			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1248							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGTGTCAGCTGCACCCCCAGG	0.692000													11	31					9.05144e-12	1.31502e-11	0.001855	1	0
ZNF473	25888	broad.mit.edu	37	19	50549981	50549981	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr19:50549981C>T	ENST00000595661.1	+	6	2776	c.2281C>T	c.(2281-2283)Cag>Tag	p.Q761*	ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Nonsense_Mutation_p.Q749*|CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Nonsense_Mutation_p.Q761*|ZNF473_ENST00000391821.2_Nonsense_Mutation_p.Q761*			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	761					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TTATGTTTGTCAGGAATGCGG	0.522000											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	84					0	0	0.001855	0	0
KIAA1217	56243	broad.mit.edu	37	10	24834796	24834796	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr10:24834796C>T	ENST00000376454.3	+	21	5405	c.5375C>T	c.(5374-5376)cCt>cTt	p.P1792L	KIAA1217_ENST00000376462.1_Missense_Mutation_p.P1113L|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P1198L|KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P1223L|KIAA1217_ENST00000396445.1_3'UTR	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1792					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GACTTTAAGCCTACTTCCCCC	0.493000													14	107					0	0	0.003163	0	0
TNRC18	84629	broad.mit.edu	37	7	5410484	5410484	+	Silent	SNP	C	C	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr7:5410484C>T	ENST00000399537.4	-	11	4089	c.3741G>A	c.(3739-3741)gtG>gtA	p.V1247V	TNRC18_ENST00000430969.1_Silent_p.V1247V			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1247							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GTGTCAGCTGCACCCCCAGGT	0.697000													11	31					0	0	0.001855	0	0
SLC5A1	6523	broad.mit.edu	37	22	32498104	32498104	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr22:32498104C>A	ENST00000266088.4	+	13	1795	c.1545C>A	c.(1543-1545)agC>agA	p.S515R	SLC5A1_ENST00000543737.1_Missense_Mutation_p.S388R	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	515					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TGGAGCCCAGCAACTGTCCCA	0.498000													15	130					2.32078e-09	3.2491e-09	0.003163	1	0
UNC13C	440279	broad.mit.edu	37	15	54542506	54542506	+	Silent	SNP	G	G	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr15:54542506G>A	ENST00000545554.1	+	7	3312	c.3312G>A	c.(3310-3312)acG>acA	p.T1104T	UNC13C_ENST00000537900.1_Silent_p.T1102T|UNC13C_ENST00000260323.11_Silent_p.T1104T			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1104					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGGTCTGGACGGCTACCACAC	0.493000													17	37					0	0	0.004990	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67859620	67859620	+	Silent	SNP	C	C	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr16:67859620C>A	ENST00000388833.3	+	8	1080	c.703C>A	c.(703-705)Cgg>Agg	p.R235R	TSNAXIP1_ENST00000415766.3_Silent_p.R220R|TSNAXIP1_ENST00000561639.1_Silent_p.R289R	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	235					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TAAGATGACCCGGCAAGACCT	0.582000													4	217					0.00909568	0.0104532	0.009096	1	0
STEAP4	79689	broad.mit.edu	37	7	87913465	87913465	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr7:87913465C>A	ENST00000380079.4	-	2	221	c.120G>T	c.(118-120)caG>caT	p.Q40H	AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.Q40H|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.Q40H	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	40					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					AATAACCACACTGGAGCATTT	0.428000													9	58					7.48243e-07	9.44503e-07	0.006214	1	0
ALCAM	214	broad.mit.edu	37	3	105260531	105260531	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr3:105260531C>T	ENST00000306107.5	+	8	1413	c.913C>T	c.(913-915)Cgc>Tgc	p.R305C	ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000486979.2_Missense_Mutation_p.R254C|ALCAM_ENST00000472644.2_Missense_Mutation_p.R305C|ALCAM_ENST00000481337.1_3'UTR	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	305	Ig-like C2-type 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GGATGTGAGGCGCAATGCAAC	0.423000													6	43					0	0	0.001984	0	0
IPO7	10527	broad.mit.edu	37	11	9445348	9445348	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr11:9445348C>A	ENST00000379719.3	+	10	1208	c.1066C>A	c.(1066-1068)Cca>Aca	p.P356T		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	356					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	p.P356S(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TGTTATTTTTCCATTGATGTG	0.308000													13	45					4.3838e-07	5.62588e-07	0.001855	1	0
OGDH	4967	broad.mit.edu	37	7	44737087	44737087	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr7:44737087G>A	ENST00000222673.5	+	16	2212	c.2170G>A	c.(2170-2172)Ggc>Agc	p.G724S	OGDH_ENST00000543843.1_Missense_Mutation_p.G675S|OGDH_ENST00000449767.1_Missense_Mutation_p.G720S|OGDH_ENST00000447398.1_Missense_Mutation_p.G735S|OGDH_ENST00000444676.1_Missense_Mutation_p.G739S|OGDH_ENST00000439616.2_Missense_Mutation_p.G574S	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	724					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GTCTGAGTACGGCGTGCTGGG	0.597000													12	74					0	0	0.013537	0	0
TMEM52	339456	broad.mit.edu	37	1	1850628	1850636	+	In_Frame_Del	DEL	AGCGGCAGG	AGCGGCAGG	-			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr1:1850628_1850636delAGCGGCAGG	ENST00000310991.3	-	1	76_84	c.69_77delCCTGCCGCT	c.(67-78)ctg>ct	p.LLPL23del		NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	23						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACCTgcggcagcggcaggagcggcagga	0.766													2	4	---	---	---	---					
HIST1H1E	3008	broad.mit.edu	37	6	26156805	26156807	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr6:26156805_26156807delAAG	ENST00000304218.3	+	1	247_249	c.187_189delAAG	c.(187-189)del	p.K64del		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	64	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.K63K(1)		NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						GGCCGCTCTCAAGAAAGCGCTGG	0.616													15	49	---	---	---	---					
MTO1	25821	broad.mit.edu	37	6	74176036	74176037	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr6:74176036_74176037insGT	ENST00000498286.1	+	2	599_600	c.322_323insGT	c.(322-324)tgtfs	p.C108fs	MTO1_ENST00000415954.2_Frame_Shift_Ins_p.C108fs|MTO1_ENST00000518210.1_3'UTR|MTO1_ENST00000370300.4_Frame_Shift_Ins_p.C108fs|MTO1_ENST00000370305.1_Frame_Shift_Ins_p.C34fs			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	108					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						TGACCAGTCTGGTGTACATTAT	0.455													25	86	---	---	---	---					
RELN	5649	broad.mit.edu	37	7	103629803	103629804	+	Translation_Start_Site	INS	-	-	GCCGCC			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr7:103629803_103629804insGCCGCC	ENST00000424685.2	-	0	159_160				RELN_ENST00000343529.5_Start_Codon_Ins|RELN_ENST00000428762.1_Start_Codon_Ins			P78509	RELN_HUMAN	reelin						axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGCGCTCCATgccgccgccgc	0.723													4	6	---	---	---	---					
PPTC7	160760	broad.mit.edu	37	12	111020740	111020742	+	In_Frame_Del	DEL	CGC	CGC	-			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr12:111020740_111020742delCGC	ENST00000354300.3	-	1	383_385	c.95_97delGCG	c.(94-99)gac>g	p.GD32del		NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)	32	Gly-rich.						metal ion binding|phosphoprotein phosphatase activity			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						AGTCCGTAGTcgccgccgccgcc	0.739													3	4	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579450	7579451	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr17:7579450_7579451insG	ENST00000420246.2	-	4	368_369	c.236_237insC	c.(235-237)gccfs	p.A79fs	TP53_ENST00000413465.2_Frame_Shift_Ins_p.A79fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.A79fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.A79fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.A79fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.A79fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	79	Interaction with HRMT1L2.|Interaction with WWOX.		A -> G (in a sporadic cancer; somatic mutation).|A -> T (in a sporadic cancer; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.A76_S90del15(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.R65fs*38(1)|p.D48fs*55(1)|p.A79V(1)|p.A79_A88del10(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCGGTGTAGGAGCTGCTGGTGC	0.624		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)			80	81	---	---	---	---					
PPP1R3F	89801	broad.mit.edu	37	X	49137917	49137919	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chrX:49137917_49137919delTGC	ENST00000055335.6	+	2	1069_1071	c.1053_1055delTGC	c.(1051-1056)ttc>tt	p.FA351del	PPP1R3F_ENST00000466508.1_In_Frame_Del_p.FA6del|PPP1R3F_ENST00000376188.1_In_Frame_Del_p.FA6del|PPP1R3F_ENST00000495799.1_In_Frame_Del_p.FA6del|PPP1R3F_ENST00000438316.1_In_Frame_Del_p.FA23del	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	351			F -> S (in dbSNP:rs17148347).			integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					ATAACACCTTTGCCATGGGTAAG	0.438													7	10	---	---	---	---