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	IsMicroSat	NumberOfSatRepeats	IsAdjacentToRepeatRegion	site	is_in_m2pon
RBM14-RBM4	0	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000412278.2	+	2	876_896	c.781_801delGCTGCTGCTGCAGCAGCAGCC	c.(781-801)gctgctgctgcagcagcagccdel	p.AAAAAAA261del	RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000506523.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron	NM_001198845.1	NP_001185774.1				NA											NA						tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615		NA											False	1	True	11:66411364	0
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs142857579		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661		NA											False	1	False	1:152671515	0
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	by1000genomes	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682).		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.V777V(1)		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)				gccgccgcagccaccgccgccgc	0.635		NA											False	1	False	16:72991713	0
KRTAP4-5	85289	broad.mit.edu	37	17	39305731	39305732	+	In_Frame_Ins	INS	-	-	GCAGCAGGTGGTCCT	rs34709169		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:39305731_39305732insGCAGCAGGTGGTCCT	ENST00000343246.4	-	1	322_323	c.288_289insAGGACCACCTGCTGC	c.(286-291)tgctgc>tgcAGGACCACCTGCTGCtgc	p.95_96insCRTTC		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	100	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			cagctggggcagcagcaggtgg	0.663		NA											False	0	True	17:39305731	0
TAF4	6874	broad.mit.edu	37	20	60587922	60587923	+	Frame_Shift_Ins	INS	-	-	GCCT			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr20:60587922_60587923insGCCT	ENST00000252996.3	-	3	1588_1589	c.1589_1590insAGGC	c.(1588-1590)gccfs	p.-530fs		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	NA					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CCGTTGTCTGGGCCTGAGACAC	0.589		NA											False	1	True	20:60587922	0
AP3S1	1176	broad.mit.edu	37	5	115202418	115202421	+	Frame_Shift_Del	DEL	AAGA	AAGA	-	rs80118146		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	AAGA	AAGA	-	-	AAGA	AAGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:115202418_115202421delAAGA	ENST00000316788.7	+	2	678_681	c.121_124delAAGA	c.(121-126)aagagafs	p.KR41fs		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	41					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TTTGGTATCTAAGAGAGATGAAAA	0.304		NA											False	1	True	5:115202418	0
LZTS1	11178	broad.mit.edu	37	8	20107683	20107730	+	In_Frame_Del	DEL	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-	rs148039718	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-	-	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr8:20107683_20107730delCAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	ENST00000381569.1	-	4	1651_1698	c.1294_1341delAGGACCCAGGACCTGGAGGGCGCCCTGCGCACCAAGGGCCTGGAGCTG	c.(1294-1341)aggacccaggacctggagggcgccctgcgcaccaagggcctggagctgdel	p.RTQDLEGALRTKGLEL432del	LZTS1_ENST00000522290.1_In_Frame_Del_p.RTQDLEGALRTKGLEL432del|LZTS1_ENST00000265801.6_In_Frame_Del_p.RTQDLEGALRTKGLEL432del			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	432					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CACAGACCTCCAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCTCAGCTCCAGG	0.657		NA											False	1	True	8:20107683	0
TENM1	10178	broad.mit.edu	37	X	123518249	123518249	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:123518249G>A	ENST00000422452.2	-	30	6595	c.6532C>T	c.(6532-6534)Cgt>Tgt	p.R2178C	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.R2171C	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1	NA											NA						TAACTATAACGCCACTGGGTT	0.448		NA											False	0	False	X:123518249	0
ERBB3	2065	broad.mit.edu	37	12	56480377	56480377	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:56480377G>T	ENST00000267101.3	+	4	924	c.484G>T	c.(484-486)Gac>Tac	p.D162Y	ERBB3_ENST00000415288.2_Missense_Mutation_p.D103Y|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	162					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GGACACAATTGACTGGAGGGA	0.502		NA											False	0	False	12:56480377	0
TEX14	56155	broad.mit.edu	37	17	56663333	56663333	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:56663333C>T	ENST00000389934.3	-	18	3016	c.2899G>A	c.(2899-2901)Gcc>Acc	p.A967T	TEX14_ENST00000240361.8_Missense_Mutation_p.A973T|TEX14_ENST00000349033.5_Missense_Mutation_p.A967T	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	973						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCAGCAGGGCGTCGGGCTCA	0.507		NA											False	0	True	17:56663333	0
SLC8A3	6547	broad.mit.edu	37	14	70633740	70633740	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:70633740C>T	ENST00000381269.2	-	2	2153	c.1400G>A	c.(1399-1401)gGc>gAc	p.G467D	SLC8A3_ENST00000534137.1_Missense_Mutation_p.G467D|SLC8A3_ENST00000357887.3_Missense_Mutation_p.G467D|SLC8A3_ENST00000356921.2_Missense_Mutation_p.G467D|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G467D	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	467	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ATCAATTATGCCCACGGAGAA	0.517		NA											False	0	True	14:70633740	0
DCAF4L2	138009	broad.mit.edu	37	8	88885973	88885973	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr8:88885973C>T	ENST00000319675.3	-	1	323	c.227G>A	c.(226-228)cGc>cAc	p.R76H		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	76										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CGCCAGTATGCGGTTAAATCG	0.542		NA											False	0	False	8:88885973	0
TNKS1BP1	85456	broad.mit.edu	37	11	57076887	57076887	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:57076887C>T	ENST00000532437.1	-	5	3609	c.3298G>A	c.(3298-3300)Gca>Aca	p.A1100T	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A1100T			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1100	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTAAATGCTGCCTCTCGCTGG	0.607		NA											False	0	False	11:57076887	0
CRIM1	51232	broad.mit.edu	37	2	36726453	36726453	+	Silent	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:36726453C>T	ENST00000280527.2	+	8	1831	c.1464C>T	c.(1462-1464)cgC>cgT	p.R488R		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	488	Antistasin-like 1.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GTTTCAAACGCGATCACAATG	0.408		NA											False	0	False	2:36726453	0
ALS2CL	259173	broad.mit.edu	37	3	46718503	46718503	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:46718503G>A	ENST00000318962.4	-	17	1850	c.1767C>T	c.(1765-1767)ggC>ggT	p.G589G	ALS2CL_ENST00000383742.3_5'UTR|ALS2CL_ENST00000415953.1_Silent_p.G589G	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	589					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)		AGGCACCCACGCCCAGCTGCC	0.677		NA											False	0	True	3:46718503	0
MAML3	55534	broad.mit.edu	37	4	140810661	140810661	+	Silent	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:140810661C>T	ENST00000509479.2	-	2	2785	c.1929G>A	c.(1927-1929)caG>caA	p.Q643Q	MAML3_ENST00000327122.5_Silent_p.Q487Q|MAML3_ENST00000398940.1_Silent_p.Q171Q	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	639	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgttgctgtt	0.587		NA											False	0	True	4:140810661	0
TINF2	26277	broad.mit.edu	37	14	24709046	24709046	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:24709046G>T	ENST00000267415.7	-	9	1654	c.1313C>A	c.(1312-1314)cCt>cAt	p.P438H	TINF2_ENST00000540705.1_Missense_Mutation_p.P403H|TINF2_ENST00000399423.4_3'UTR|TINF2_ENST00000538777.1_3'UTR|TINF2_ENST00000558566.1_3'UTR	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	438					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		GGAAGAAACAGGTATGGCACC	0.458		NA							Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				False	0	False	14:24709046	0
PLIN4	729359	broad.mit.edu	37	19	4511956	4511956	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:4511956G>A	ENST00000301286.3	-	3	1973	c.1974C>T	c.(1972-1974)acC>acT	p.T658T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	658	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCACAGCACTGGTCACCCCAC	0.582		NA											False	0	False	19:4511956	0
HLA-DQB2	3120	broad.mit.edu	37	6	32726819	32726819	+	Missense_Mutation	SNP	C	C	T	rs35275462		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr6:32726819C>T	ENST00000435145.2	-	3	515	c.454G>A	c.(454-456)Gcc>Acc	p.A152T	HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.A152T|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.A152T			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	152					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						TTGATCTGGGCTGGATAGAAA	0.562		NA											False	0	True	6:32726819	0
TLR8	51311	broad.mit.edu	37	X	12939864	12939864	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:12939864G>A	ENST00000218032.6	+	2	2792	c.2705G>A	c.(2704-2706)cGc>cAc	p.R902H	TLR8_ENST00000311912.5_Missense_Mutation_p.R920H	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	902	TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AATGAGCTGCGCTACCACCTT	0.478		NA											False	0	False	X:12939864	0
DGKH	160851	broad.mit.edu	37	13	42764629	42764629	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr13:42764629C>A	ENST00000261491.5	+	16	2024	c.2003C>A	c.(2002-2004)gCt>gAt	p.A668D	DGKH_ENST00000337343.4_Missense_Mutation_p.A668D|DGKH_ENST00000538674.1_Missense_Mutation_p.A423D|DGKH_ENST00000536612.1_Missense_Mutation_p.A532D|DGKH_ENST00000540693.1_Missense_Mutation_p.A668D|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000379274.2_Missense_Mutation_p.A532D	NM_152910.4	NP_690874.2	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	NA					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AAGGAGGAAGCTAAAGATGAT	0.373		NA											False	0	False	13:42764629	0
LCT	3938	broad.mit.edu	37	2	136567237	136567237	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:136567237C>T	ENST00000264162.2	-	8	2690	c.2680G>A	c.(2680-2682)Gaa>Aaa	p.E894K		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	894	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AAATCTCTTTCGAACTTGGGT	0.517		NA											False	0	True	2:136567237	0
EP300	2033	broad.mit.edu	37	22	41542773	41542773	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr22:41542773G>A	ENST00000263253.7	+	11	3303	c.2084G>A	c.(2083-2085)cGt>cAt	p.R695H		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	695					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGTATGATCCGTGGCAGTGTG	0.393		NA	"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				False	0	False	22:41542773	0
FAM208A	23272	broad.mit.edu	37	3	56667404	56667404	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:56667404T>G	ENST00000431842.2	-	11	3028	c.2104A>C	c.(2104-2106)Agt>Cgt	p.S702R	FAM208A_ENST00000493960.2_Missense_Mutation_p.S1139R|FAM208A_ENST00000355628.5_Missense_Mutation_p.S1078R	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	1139										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						AAAGGATCACTACACAGTGGC	0.433		NA											False	0	False	3:56667404	0
RAX2	84839	broad.mit.edu	37	19	3771573	3771573	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:3771573G>T	ENST00000555633.1	-	2	508	c.168C>A	c.(166-168)agC>agA	p.S56R	RAX2_ENST00000555978.1_Missense_Mutation_p.S56R			Q96IS3	RAX2_HUMAN	retina and anterior neural fold homeobox 2	56					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCTCACGGCTGTACACAT	0.627		NA											False	0	False	19:3771573	0
SEC23A	10484	broad.mit.edu	37	14	39524367	39524367	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:39524367C>T	ENST00000537403.1	-	10	2235	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	SEC23A_ENST00000307712.6_Missense_Mutation_p.D547N|SEC23A_ENST00000545328.2_Missense_Mutation_p.D518N|SEC23A_ENST00000536508.1_Missense_Mutation_p.D421N			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	547					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		AGCTGTCTGTCCAGCCACCTA	0.418		NA											False	0	True	14:39524367	0
IRF7	3665	broad.mit.edu	37	11	613572	613572	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:613572C>T	ENST00000397566.1	-	7	1319	c.910G>A	c.(910-912)Gtg>Atg	p.V304M	IRF7_ENST00000348655.6_Missense_Mutation_p.V262M|IRF7_ENST00000397574.2_Missense_Mutation_p.V291M|IRF7_ENST00000397562.3_De_novo_Start_InFrame|IRF7_ENST00000330243.5_Missense_Mutation_p.V304M|IRF7_ENST00000397570.1_Missense_Mutation_p.V262M|IRF7_ENST00000525445.1_Missense_Mutation_p.V185M	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	291					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGATGGTCACGTCCAGCGCC	0.682		NA											False	0	False	11:613572	0
MAP7D3	79649	broad.mit.edu	37	X	135314079	135314079	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:135314079G>A	ENST00000316077.9	-	8	1257	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	MAP7D3_ENST00000370663.5_Missense_Mutation_p.S328L|MAP7D3_ENST00000370661.1_Missense_Mutation_p.S311L	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	346						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACCACAGGCGACACGTCCAC	0.572		NA											False	0	False	X:135314079	0
ZNF646	9726	broad.mit.edu	37	16	31091179	31091179	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr16:31091179G>A	ENST00000394979.2	+	1	3957	c.3534G>A	c.(3532-3534)aaG>aaA	p.K1178K	ZNF646_ENST00000300850.5_Silent_p.K1178K			O15015	ZN646_HUMAN	zinc finger protein 646	1178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCACTGTGAAGGGGGAGGAGA	0.602		NA											False	0	True	16:31091179	0
ZNF835	90485	broad.mit.edu	37	19	57175926	57175926	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:57175926C>T	ENST00000537055.2	-	2	872	c.641G>A	c.(640-642)cGc>cAc	p.R214H		NM_001005850.2	NP_001005850.2			zinc finger protein 835	NA										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CGTGTGCACGCGCCGGTGCTG	0.721		NA											False	0	False	19:57175926	0
RPL36AL	6166	broad.mit.edu	37	14	50085724	50085724	+	Missense_Mutation	SNP	C	C	G	rs1804401		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:50085724C>G	ENST00000298289.6	-	2	258	c.99G>C	c.(97-99)ttG>ttC	p.L33F		NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN	ribosomal protein L36a-like	33					translation	ribosome	structural constituent of ribosome				NA	all_epithelial(31;0.0021)|Breast(41;0.0124)					CCTGGGCATACAAAGAATCCT	0.478		NA											False	0	True	14:50085724	0
RPL36AL	6166	broad.mit.edu	37	14	50085742	50085742	+	Silent	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:50085742C>T	ENST00000298289.6	-	2	240	c.81G>A	c.(79-81)aaG>aaA	p.K27K		NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN	ribosomal protein L36a-like	27					translation	ribosome	structural constituent of ribosome				NA	all_epithelial(31;0.0021)|Breast(41;0.0124)					CCTTGCCCTTCTTATACTGTG	0.488		NA											False	0	False	14:50085742	0
MCTP1	79772	broad.mit.edu	37	5	94114845	94114845	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:94114845G>A	ENST00000515393.1	-	19	2579	c.2580C>T	c.(2578-2580)gaC>gaT	p.D860D	MCTP1_ENST00000505078.1_Silent_p.D376D|MCTP1_ENST00000429576.2_Silent_p.D553D|MCTP1_ENST00000312216.8_Silent_p.D639D|MCTP1_ENST00000514040.1_5'UTR	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	860					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CTTCTTCCTCGTCCTCTAGCA	0.423		NA											False	0	False	5:94114845	0
U2SURP	23350	broad.mit.edu	37	3	142741876	142741876	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:142741876G>A	ENST00000397933.2	+	12	1299	c.17G>A	c.(16-18)cGc>cAc	p.R6H	U2SURP_ENST00000473835.2_Silent_p.P400P|U2SURP_ENST00000493598.2_Silent_p.P399P			O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	0					RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						CTATGTTACCGCCACCTAAAA	0.408		NA											False	0	False	3:142741876	0
MOS	4342	broad.mit.edu	37	8	57026538	57026538	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr8:57026538G>A	ENST00000311923.1	-	1	3	c.4C>T	c.(4-6)Ccc>Tcc	p.P2S		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	2							ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			AGGGGCGAGGGCATCGCACTT	0.632		NA											False	0	True	8:57026538	0
EGF	1950	broad.mit.edu	37	4	110880564	110880564	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:110880564C>G	ENST00000265171.5	+	6	1482	c.1037C>G	c.(1036-1038)gCc>gGc	p.A346G	EGF_ENST00000509793.1_Intron|EGF_ENST00000503392.1_Missense_Mutation_p.A346G	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	346	EGF-like 1.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GAGGGATACGCCCTAAGTCGA	0.498		NA											False	0	True	4:110880564	0
APBA2	321	broad.mit.edu	37	15	29346967	29346967	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:29346967G>A	ENST00000558402.1	+	5	1479	c.880G>A	c.(880-882)Gga>Aga	p.G294R	APBA2_ENST00000558330.1_Missense_Mutation_p.G294R|APBA2_ENST00000411764.1_Missense_Mutation_p.G294R|APBA2_ENST00000558259.1_Missense_Mutation_p.G294R|APBA2_ENST00000561069.1_Missense_Mutation_p.G294R			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	294					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CAAGCACCCCGGAGACCCCCA	0.662		NA											False	0	True	15:29346967	0
POLR2B	5431	broad.mit.edu	37	4	57871882	57871882	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:57871882G>A	ENST00000381227.1	+	10	1627	c.1214G>A	c.(1213-1215)aGa>aAa	p.R405K	POLR2B_ENST00000441246.2_Missense_Mutation_p.R398K|POLR2B_ENST00000431623.2_Missense_Mutation_p.R330K|POLR2B_ENST00000314595.5_Missense_Mutation_p.R405K			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	405					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TTCTTATTTAGAGGGTAAGGA	0.413		NA											False	0	False	4:57871882	0
GPR113	165082	broad.mit.edu	37	2	26534165	26534165	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:26534165C>T	ENST00000333478.6	-	8	2416	c.1834G>A	c.(1834-1836)Gcc>Acc	p.A612T	GPR113_ENST00000421160.2_Missense_Mutation_p.A742T|GPR113_ENST00000311519.1_Missense_Mutation_p.A811T|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_Missense_Mutation_p.A414T	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	811					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGAGCAGGGCGGCGTGGCGG	0.622		NA											False	0	True	2:26534165	0
MAL	4118	broad.mit.edu	37	2	95715409	95715409	+	Silent	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:95715409C>T	ENST00000309988.4	+	3	454	c.345C>T	c.(343-345)gaC>gaT	p.D115D	MAL_ENST00000349807.3_Intron|MAL_ENST00000354078.3_Silent_p.D59D|MAL_ENST00000353004.3_Intron	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	115	MARVEL.				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		CGATGCAAGACGGCTTCACCT	0.647		NA											False	0	False	2:95715409	0
ABCC2	1244	broad.mit.edu	37	10	101594176	101594176	+	Missense_Mutation	SNP	C	C	T	rs142715085	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:101594176C>T	ENST00000370449.4	+	24	3411	c.3298C>T	c.(3298-3300)Cgc>Tgc	p.R1100C		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1100	ABC transmembrane type-1 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.R1100C(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TCAGTCCTTGCGCAGCTGGAT	0.468		NA											False	0	False	10:101594176	0
UNC13D	201294	broad.mit.edu	37	17	73836181	73836181	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:73836181G>A	ENST00000207549.4	-	11	1248	c.869C>T	c.(868-870)tCg>tTg	p.S290L	UNC13D_ENST00000412096.2_Missense_Mutation_p.S290L|UNC13D_ENST00000587504.1_5'UTR	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	290	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCGGCTGGCCGAAGTGGCTCT	0.667		NA							Familial Hemophagocytic Lymphohistiocytosis				False	0	False	17:73836181	0
NLRP14	338323	broad.mit.edu	37	11	7081264	7081264	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:7081264C>T	ENST00000299481.4	+	9	3119	c.2773C>T	c.(2773-2775)Cgg>Tgg	p.R925W		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	925					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TGATGTCTTTCGGCATCCAAG	0.428		NA											False	0	True	11:7081264	0
POTEC	388468	broad.mit.edu	37	18	14513734	14513734	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr18:14513734C>T	ENST00000358970.5	-	10	1459	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	487								p.G487E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTGTGATATTCCAGTGTTCTG	0.323		NA											False	0	False	18:14513734	0
HRASLS5	117245	broad.mit.edu	37	11	63233706	63233706	+	Missense_Mutation	SNP	G	G	A	rs80217781	by1000genomes	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:63233706G>A	ENST00000540857.1	-	5	725	c.593C>T	c.(592-594)cCg>cTg	p.P198L	HRASLS5_ENST00000539221.1_Missense_Mutation_p.P208L|HRASLS5_ENST00000301790.4_Missense_Mutation_p.P208L	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	208										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						CTTGTCCACCGGCAAGGGCAG	0.512		NA											False	0	False	11:63233706	0
AC007276.5	0	broad.mit.edu	37	7	29727117	29727117	+	RNA	SNP	T	T	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr7:29727117T>A	ENST00000602980.1	+	0	935					NR_036482.1					NA											NA						GTTGTTGATTTAAAAAAAAAT	0.249		NA											False	0	True	7:29727117	0
KCNT1	57582	broad.mit.edu	37	9	138670646	138670646	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr9:138670646G>A	ENST00000298480.5	+	23	2781	c.2707G>A	c.(2707-2709)Gtc>Atc	p.V903I	KCNT1_ENST00000371757.2_Missense_Mutation_p.V903I|KCNT1_ENST00000486577.2_Missense_Mutation_p.V862I|KCNT1_ENST00000490355.2_Missense_Mutation_p.V882I|KCNT1_ENST00000263604.3_Missense_Mutation_p.V884I|KCNT1_ENST00000487664.1_Missense_Mutation_p.V858I|KCNT1_ENST00000491806.2_Missense_Mutation_p.V870I|KCNT1_ENST00000488444.2_Missense_Mutation_p.V884I			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	903						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CAAGACCATCGTCAACGTGCA	0.637		NA											False	0	False	9:138670646	0
KRT83	3889	broad.mit.edu	37	12	52715017	52715017	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:52715017C>T	ENST00000293670.3	-	1	165	c.103G>A	c.(103-105)Gcc>Acc	p.A35T		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	35	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CGGTAGGGGGCGGCGGTGATG	0.697		NA											False	0	True	12:52715017	0
PCDH11X	27328	broad.mit.edu	37	X	91090535	91090535	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:91090535C>T	ENST00000373094.1	+	1	877	c.32C>T	c.(31-33)gCg>gTg	p.A11V	PCDH11X_ENST00000373088.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A11V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A11V|PCDH11X_ENST00000504220.2_Missense_Mutation_p.A11V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A11V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A11V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	11					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TACATTTTCGCGGTCCTGCTA	0.493		NA											False	0	False	X:91090535	0
GAS2L3	283431	broad.mit.edu	37	12	101005850	101005850	+	Missense_Mutation	SNP	G	G	A	rs143611209	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:101005850G>A	ENST00000537247.1	+	6	1018	c.64G>A	c.(64-66)Gca>Aca	p.A22T	GAS2L3_ENST00000539410.1_Missense_Mutation_p.A126T|GAS2L3_ENST00000547754.1_Missense_Mutation_p.A126T|GAS2L3_ENST00000266754.5_Missense_Mutation_p.A126T			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	126					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						GGACAATACCGCAAACTTCCT	0.378		NA											False	0	False	12:101005850	0
FCGR2B	2213	broad.mit.edu	37	1	161643018	161643018	+	Splice_Site	SNP	A	A	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:161643018A>G	ENST00000367962.4	+	4	772	c.645A>G	c.(643-645)caA>caG	p.Q215Q	FCGR2B_ENST00000428605.2_Splice_Site_p.Q215Q|RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000367961.4_Splice_Site_p.Q208Q|FCGR2B_ENST00000236937.9_Splice_Site_p.Q215Q|FCGR2B_ENST00000358671.5_Splice_Site_p.Q215Q|FCGR2B_ENST00000367960.5_Splice_Site_p.Q208Q|FCGR2B_ENST00000403078.3_Splice_Site_p.Q215Q			P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	215					immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity				NA	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCACTGTCCAAGGTATGCGGA	0.542		NA	T	?	ALL								False	0	False	1:161643018	0
GABBR2	9568	broad.mit.edu	37	9	101216358	101216358	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr9:101216358G>A	ENST00000259455.2	-	7	1600	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	381					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.R381W(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CGCTGGTGCCGGCTGCTGGCA	0.607		NA											False	0	False	9:101216358	0
CDK12	51755	broad.mit.edu	37	17	37627224	37627224	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:37627224G>A	ENST00000447079.4	+	2	1172	c.1139G>A	c.(1138-1140)cGt>cAt	p.R380H	CDK12_ENST00000430627.2_Missense_Mutation_p.R380H	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	380					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TCACGCAGTCGTCATTCCAGT	0.443		NA	"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			False	0	False	17:37627224	0
DDX31	64794	broad.mit.edu	37	9	135523898	135523898	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr9:135523898G>A	ENST00000372159.3	-	10	1247	c.1096C>T	c.(1096-1098)Cgc>Tgc	p.R366C	DDX31_ENST00000372153.1_Missense_Mutation_p.R366C|DDX31_ENST00000310532.2_Missense_Mutation_p.R366C|DDX31_ENST00000438527.3_Missense_Mutation_p.R237C	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	366	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TCCACCAGGCGTCCAGGAGTT	0.413		NA											False	0	False	9:135523898	0
FAT3	120114	broad.mit.edu	37	11	92600211	92600211	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:92600211C>T	ENST00000298047.6	+	21	11980	c.11963C>T	c.(11962-11964)tCg>tTg	p.S3988L	FAT3_ENST00000525166.1_Missense_Mutation_p.S3838L|FAT3_ENST00000533797.1_Missense_Mutation_p.S323L|FAT3_ENST00000409404.2_Missense_Mutation_p.S3988L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3988	Laminin G-like.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.S3988L(2)|p.S563L(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGCCTGGACTCGGTGATACTG	0.617		NA								TCGA Ovarian(4;0.039)			False	0	False	11:92600211	0
OR6C6	283365	broad.mit.edu	37	12	55688832	55688832	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:55688832C>T	ENST00000358433.2	-	1	184	c.185G>A	c.(184-186)cGt>cAt	p.R62H		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGAGAAATTACGGAGAAAGAA	0.388		NA											False	0	False	12:55688832	0
DSEL	92126	broad.mit.edu	37	18	65178609	65178609	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr18:65178609G>A	ENST00000310045.7	-	2	4740	c.3267C>T	c.(3265-3267)ttC>ttT	p.F1089F	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1079						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GTTCATACTCGAAAGCATAAC	0.368		NA											False	0	True	18:65178609	0
GPATCH8	23131	broad.mit.edu	37	17	42476539	42476539	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:42476539C>T	ENST00000434000.1	-	9	2954	c.2672G>A	c.(2671-2673)cGa>cAa	p.R891Q	GPATCH8_ENST00000591680.1_Missense_Mutation_p.R969Q			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	969	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CCGCTTGCTTCGACTACGACT	0.642		NA											False	0	True	17:42476539	0
NOS3	4846	broad.mit.edu	37	7	150698985	150698985	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr7:150698985G>A	ENST00000297494.3	+	13	1936	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	NOS3_ENST00000467517.1_Missense_Mutation_p.E527K|NOS3_ENST00000484524.1_Missense_Mutation_p.E527K|NOS3_ENST00000461406.1_Missense_Mutation_p.E321K	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	527	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GTATGGCTCCGAGACCGGCCG	0.652		NA											False	0	False	7:150698985	0
USP10	9100	broad.mit.edu	37	16	84779219	84779219	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr16:84779219G>A	ENST00000219473.7	+	4	1245	c.1132G>A	c.(1132-1134)Gtt>Att	p.V378I	USP10_ENST00000570191.1_Missense_Mutation_p.V382I	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	378					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						TGAAAAGCAGGTTGAAGTCAA	0.468		NA											False	0	False	16:84779219	0
DSCAM	1826	broad.mit.edu	37	21	41447025	41447025	+	Silent	SNP	C	C	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr21:41447025C>A	ENST00000400454.1	-	27	5304	c.4827G>T	c.(4825-4827)ctG>ctT	p.L1609L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1609					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGAGCACAAACAGCAGCAAGA	0.592		NA											False	0	True	21:41447025	0
KCNH5	27133	broad.mit.edu	37	14	63174356	63174356	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:63174356C>T	ENST00000322893.7	-	11	3105	c.2837G>A	c.(2836-2838)aGc>aAc	p.S946N	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	946	CAD (involved in subunit assembly) (By similarity).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTGGGGTACGCTTTTTTCCGA	0.473		NA											False	0	True	14:63174356	0
ADAM29	11086	broad.mit.edu	37	4	175897289	175897289	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:175897289G>A	ENST00000359240.3	+	5	1283	c.613G>A	c.(613-615)Gtc>Atc	p.V205I	ADAM29_ENST00000445694.1_Missense_Mutation_p.V205I|ADAM29_ENST00000404450.4_Missense_Mutation_p.V205I|ADAM29_ENST00000514159.1_Missense_Mutation_p.V205I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	205	Peptidase M12B.		V -> I (in a colorectal cancer sample; somatic mutation).		proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.V205I(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AATTGTAGTCGTCATTGATAA	0.348		NA											False	0	False	4:175897289	0
PPCDC	60490	broad.mit.edu	37	15	75340906	75340906	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:75340906C>T	ENST00000342932.3	+	5	517	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	PPCDC_ENST00000564923.1_Missense_Mutation_p.R50W|PPCDC_ENST00000563393.1_Missense_Mutation_p.R2W|PPCDC_ENST00000568649.1_Missense_Mutation_p.R82W|PPCDC_ENST00000567336.1_Missense_Mutation_p.R93W	NM_021823.3	NP_068595.3	Q96CD2	COAC_HUMAN	phosphopantothenoylcysteine decarboxylase	125					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenoylcysteine decarboxylase activity			breast(1)|cervix(1)	2						CTGCGTCATGCGGGCCTGGGA	0.662		NA											False	0	True	15:75340906	0
CCDC144CP	0	broad.mit.edu	37	17	20239305	20239305	+	RNA	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:20239305G>A	ENST00000340196.4	+	0	729										NA											NA						GAGAAAAGATGGACACTGGGG	0.418		NA											False	0	False	17:20239305	0
LIN54	132660	broad.mit.edu	37	4	83905426	83905426	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:83905426C>A	ENST00000340417.3	-	2	949	c.572G>T	c.(571-573)aGg>aTg	p.R191M	LIN54_ENST00000395282.2_Missense_Mutation_p.R191M|LIN54_ENST00000506560.1_Missense_Mutation_p.R191M|LIN54_ENST00000505397.1_Missense_Mutation_p.R191M|LIN54_ENST00000395283.2_Missense_Mutation_p.R191M|LIN54_ENST00000446851.2_Intron|LIN54_ENST00000510557.1_Intron|LIN54_ENST00000442461.2_Intron	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	191					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				CACCTCTGGCCTCCCTCCAAT	0.478		NA											False	0	True	4:83905426	0
RBAK	57786	broad.mit.edu	37	7	5104238	5104238	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr7:5104238G>A	ENST00000396912.1	+	5	1670	c.1151G>A	c.(1150-1152)cGc>cAc	p.R384H	RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.R384H|RBAK-RBAKDN_ENST00000407184.1_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	384					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TCCTTCTCCCGCAAGTCTGCT	0.463		NA											False	0	True	7:5104238	0
KNG1	3827	broad.mit.edu	37	3	186443035	186443035	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:186443035C>T	ENST00000265023.4	+	4	762	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	KNG1_ENST00000287611.2_Missense_Mutation_p.R184W|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Missense_Mutation_p.R184W	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	184	Cystatin 2.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	TGAAGTAAAACGGGCCCAAAG	0.398		NA											False	0	True	3:186443035	0
TMEM87A	25963	broad.mit.edu	37	15	42503943	42503943	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:42503943C>T	ENST00000389834.4	-	20	1895	c.1631G>A	c.(1630-1632)cGa>cAa	p.R544Q	TMEM87A_ENST00000448392.1_Missense_Mutation_p.R483Q|RP11-546B15.1_ENST00000563846.1_RNA	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	544						integral to membrane				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		TGTGATCATTCGTTCCTAGGG	0.368		NA											False	0	False	15:42503943	0
QPCT	25797	broad.mit.edu	37	2	37571893	37571893	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:37571893C>T	ENST00000338415.3	+	1	177	c.19C>T	c.(19-21)Cgg>Tgg	p.R7W	QPCT_ENST00000537448.1_Missense_Mutation_p.R7W	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	7					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				CGGAAGACACCGGCGCGTCGT	0.711		NA											False	0	False	2:37571893	0
ZNF256	10172	broad.mit.edu	37	19	58453978	58453978	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:58453978C>T	ENST00000598928.1	-	2	271	c.71G>A	c.(70-72)aGc>aAc	p.S24N	ZNF256_ENST00000282308.3_Silent_p.Q66Q			Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	396	KRAB.				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		AAGTGCTCTGCTGATAAGGTG	0.532		NA											False	0	False	19:58453978	0
ABCC10	89845	broad.mit.edu	37	6	43406443	43406443	+	Silent	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr6:43406443C>T	ENST00000244533.3	+	6	2312	c.1953C>T	c.(1951-1953)acC>acT	p.T651T	ABCC10_ENST00000372530.4_Silent_p.T679T	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	679	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGTTTGCCACCATCCGAGACA	0.592		NA											False	0	False	6:43406443	0
TPTE	7179	broad.mit.edu	37	21	11014937	11014937	+	Splice_Site	SNP	C	C	T	rs76467559	by1000genomes	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr21:11014937C>T	ENST00000415664.2	-	6	808		c.e6+1					P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	NA					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAGCACAATACCTATCACATT	0.328		NA											False	0	False	21:11014937	0
CELSR3	1951	broad.mit.edu	37	3	48677877	48677877	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:48677877G>A	ENST00000544264.1	-	35	9436	c.9156C>T	c.(9154-9156)taC>taT	p.Y3052Y	CELSR3_ENST00000164024.4_Silent_p.Y3047Y			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3047					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGATGCGACCGTAAGAGGCAG	0.647		NA											False	0	False	3:48677877	0
TAF3	83860	broad.mit.edu	37	10	8006929	8006929	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:8006929C>T	ENST00000344293.5	+	3	1662	c.1456C>T	c.(1456-1458)Ccc>Tcc	p.P486S		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	486					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TTCAAATATGCCCCCCAACTT	0.488		NA											False	0	True	10:8006929	0
ABCG4	64137	broad.mit.edu	37	11	119030980	119030980	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:119030980C>T	ENST00000307417.3	+	13	1845	c.1481C>T	c.(1480-1482)aCg>aTg	p.T494M	ABCG4_ENST00000531739.1_Missense_Mutation_p.T494M|ABCG4_ENST00000449422.2_Missense_Mutation_p.T494M	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	494	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	p.T494M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TACTGGATGACGGGCCAGCCC	0.647		NA											False	0	True	11:119030980	0
ABCG8	64241	broad.mit.edu	37	2	44102330	44102330	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:44102330G>A	ENST00000272286.2	+	11	1624	c.1534G>A	c.(1534-1536)Ggg>Agg	p.G512R		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	512	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	p.G512W(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CATCATCTACGGGATGCCCAC	0.562		NA											False	0	True	2:44102330	0
XPNPEP1	7511	broad.mit.edu	37	10	111630550	111630550	+	Silent	SNP	G	G	A	rs143796899		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:111630550G>A	ENST00000369680.4	-	18	1754	c.1506C>T	c.(1504-1506)tgC>tgT	p.C502C	XPNPEP1_ENST00000322238.8_Silent_p.C521C|XPNPEP1_ENST00000369683.1_Silent_p.C431C|XPNPEP1_ENST00000502935.1_Silent_p.C545C	NM_020383.3	NP_065116.3	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	502					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	p.C502C(2)|p.C545C(2)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AACTGATGCCGCAAGGACCCT	0.498		NA											False	0	False	10:111630550	0
VPS13C	54832	broad.mit.edu	37	15	62283987	62283987	+	Silent	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:62283987C>T	ENST00000261517.5	-	17	1441	c.1368G>A	c.(1366-1368)ggG>ggA	p.G456G	VPS13C_ENST00000395898.3_Silent_p.G413G|VPS13C_ENST00000395896.4_Silent_p.G456G|VPS13C_ENST00000249837.3_Silent_p.G413G	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	456					protein localization			p.G456G(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTAATTTTTGCCCAGACCGAA	0.383		NA											False	0	True	15:62283987	0
SMCP	4184	broad.mit.edu	37	1	152857174	152857174	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:152857174G>A	ENST00000368765.3	+	2	426	c.276G>A	c.(274-276)ccG>ccA	p.P92P		NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich protein	92					penetration of zona pellucida|sperm motility	mitochondrial membrane		p.P92P(1)		breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAACTCACCGCAAACTCAGG	0.537		NA											False	0	False	1:152857174	0
CBL	867	broad.mit.edu	37	11	119144654	119144654	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:119144654G>C	ENST00000264033.4	+	4	1043	c.667G>C	c.(667-669)Gct>Cct	p.A223P		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	223	Cbl-PTB.|EF-hand-like.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GGAGGCCATGGCTCTGAAATC	0.473		NA	"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				False	0	False	11:119144654	0
IL21	59067	broad.mit.edu	37	4	123542066	123542066	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:123542066C>T	ENST00000264497.3	-	1	158	c.101G>A	c.(100-102)cGc>cAc	p.R34H	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	27					cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						AATCATGTGGCGATCTTGACC	0.398		NA											False	0	False	4:123542066	0
S1PR1	1901	broad.mit.edu	37	1	101705312	101705312	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:101705312G>A	ENST00000305352.6	+	2	1147	c.772G>A	c.(772-774)Gta>Ata	p.V258I		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	258					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GCTCAAGACCGTAATTATCGT	0.587		NA											False	0	False	1:101705312	0
ZFYVE9	9372	broad.mit.edu	37	1	52747411	52747411	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:52747411A>C	ENST00000287727.3	+	10	3120	c.2948A>C	c.(2947-2949)cAg>cCg	p.Q983P	ZFYVE9_ENST00000371591.1_Missense_Mutation_p.Q983P|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.Q924P			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	983					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						ATTCTTCTACAGTGTTTACCG	0.418		NA											False	0	False	1:52747411	0
OR7D2	162998	broad.mit.edu	37	19	9296718	9296718	+	Silent	SNP	C	C	T	rs139213903		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:9296718C>T	ENST00000344248.2	+	1	440	c.261C>T	c.(259-261)acC>acT	p.T87T		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	87					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						ACATCCAGACCGAGAACAAAG	0.507		NA											False	0	False	19:9296718	0
OR6K6	128371	broad.mit.edu	37	1	158725536	158725536	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:158725536T>C	ENST00000368144.2	+	1	1027	c.931T>C	c.(931-933)Ttt>Ctt	p.F311L		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CCTTGCTCCCTTTTTCAACCC	0.438		NA											False	0	True	1:158725536	0
ZNF496	84838	broad.mit.edu	37	1	247464376	247464376	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:247464376C>A	ENST00000294753.4	-	9	1673	c.1209G>T	c.(1207-1209)aaG>aaT	p.K403N	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.K439N	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	403					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CGTAGGACTTCTTGGAGGTCT	0.642		NA											False	0	False	1:247464376	0
CCDC144CP	0	broad.mit.edu	37	17	20239291	20239291	+	RNA	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:20239291G>A	ENST00000340196.4	+	0	715										NA											NA						GAACTTAACAGAACGAGAAAA	0.418		NA											False	0	False	17:20239291	0
PUSL1	126789	broad.mit.edu	37	1	1244928	1244928	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:1244928C>T	ENST00000379031.5	+	4	495	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	PUSL1_ENST00000470520.1_3'UTR	NM_153339.1	NP_699170.1	Q8N0Z8	PUSL1_HUMAN	pseudouridylate synthase-like 1	140					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			lung(3)|skin(1)|urinary_tract(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-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)|Lung SC(97;0.217)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGGCTGTCACCGGCGTGATGA	0.687		NA											False	0	False	1:1244928	0
KCND3	3752	broad.mit.edu	37	1	112525004	112525004	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:112525004G>A	ENST00000369697.1	-	1	414	c.345C>T	c.(343-345)gaC>gaT	p.D115D	KCND3_ENST00000302127.4_Silent_p.D115D|KCND3_ENST00000315987.2_Silent_p.D115D			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	115						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CCAGCTCGTCGTCGTAGGCAG	0.627		NA											False	0	True	1:112525004	0
MYH9	4627	broad.mit.edu	37	22	36681954	36681954	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr22:36681954G>A	ENST00000216181.5	-	36	5337	c.5107C>T	c.(5107-5109)Cgg>Tgg	p.R1703W	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1703					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						AGCTCATCCCGCTCCTGCTGG	0.652		NA	T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				False	0	True	22:36681954	0
ATP8B3	148229	broad.mit.edu	37	19	1791840	1791840	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:1791840G>A	ENST00000539485.1	-	20	2474	c.2241C>T	c.(2239-2241)atC>atT	p.I747I	ATP8B3_ENST00000525591.1_Silent_p.I700I|ATP8B3_ENST00000310127.6_Silent_p.I737I			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	737					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)		GTCTGTCCTCGATGGCTGTGG	0.627		NA											False	0	False	19:1791840	0
ANK2	287	broad.mit.edu	37	4	114275125	114275125	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:114275125G>A	ENST00000357077.4	+	38	5404	c.5351G>A	c.(5350-5352)cGa>cAa	p.R1784Q	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.R1751Q|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1751	Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAGAAAGGTCGAAGCAAGTTG	0.498		NA											False	0	False	4:114275125	0
FAM193A	8603	broad.mit.edu	37	4	2702034	2702034	+	Missense_Mutation	SNP	G	G	A	rs139214563	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:2702034G>A	ENST00000324666.5	+	17	3613	c.3262G>A	c.(3262-3264)Gac>Aac	p.D1088N	FAM193A_ENST00000545951.1_Missense_Mutation_p.D1088N|FAM193A_ENST00000505311.1_Missense_Mutation_p.D1088N|FAM193A_ENST00000382839.3_Missense_Mutation_p.D1088N|FAM193A_ENST00000502458.1_Missense_Mutation_p.D1110N	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	1088										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TAAGGTGGTCGACCTCATGTC	0.542		NA											False	0	False	4:2702034	0
TRIM51HP	0	broad.mit.edu	37	11	55065601	55065601	+	RNA	SNP	C	C	G	rs4100282		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:55065601C>G	ENST00000526016.1	-	0	107					NR_038174.2					NA											NA						CACTGAGCAACAACTGCCATG	0.488		NA											False	0	False	11:55065601	0
RIMS4	140730	broad.mit.edu	37	20	43384834	43384834	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr20:43384834G>A	ENST00000372851.3	-	6	817	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	RIMS4_ENST00000541604.2_Missense_Mutation_p.R252W	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	251					exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				GATGCCTGCCGGAGCAGGGGG	0.662		NA											False	0	True	20:43384834	0
TMEM74B	55321	broad.mit.edu	37	20	1161700	1161700	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr20:1161700C>T	ENST00000381894.3	-	2	1234	c.563G>A	c.(562-564)gGc>gAc	p.G188D		NM_018354.1	NP_060824.1	Q9NUR3	CT046_HUMAN	transmembrane protein 74B	188						integral to membrane	protein binding				NA						CAAGAGCATGCCGCCCACCGT	0.657		NA											False	0	False	20:1161700	0
NBEAL1	65065	broad.mit.edu	37	2	204009335	204009335	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:204009335G>A	ENST00000449802.1	+	31	5107	c.4774G>A	c.(4774-4776)Gca>Aca	p.A1592T		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1592							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTGTGCAATGGCATCAGCTAA	0.403		NA											False	0	False	2:204009335	0
RAG1	5896	broad.mit.edu	37	11	36597180	36597180	+	Missense_Mutation	SNP	C	C	T	rs121918572		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:36597180C>T	ENST00000299440.5	+	2	2438	c.2326C>T	c.(2326-2328)Cgg>Tgg	p.R776W		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	776					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.R776R(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGAAGAACTGCGGGATCGGGT	0.483		NA							Familial Hemophagocytic Lymphohistiocytosis				False	0	True	11:36597180	0
EPHA4	2043	broad.mit.edu	37	2	222307700	222307700	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:222307700T>G	ENST00000281821.2	-	11	1964	c.1923A>C	c.(1921-1923)aaA>aaC	p.K641N	EPHA4_ENST00000392071.4_Missense_Mutation_p.K590N|EPHA4_ENST00000409938.1_Missense_Mutation_p.K641N|EPHA4_ENST00000409854.1_Missense_Mutation_p.K641N	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	641	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TGCCAGGCACTTTGAGACGCC	0.448		NA											False	0	True	2:222307700	0
OLFM1	10439	broad.mit.edu	37	9	138011686	138011686	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr9:138011686G>A	ENST00000252854.4	+	6	1253	c.1066G>A	c.(1066-1068)Gct>Act	p.A356T	OLFM1_ENST00000371793.3_Missense_Mutation_p.A374T|OLFM1_ENST00000371796.3_Missense_Mutation_p.A347T	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	374	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CAACCAGAACGCTGGCAACAT	0.627		NA											False	0	False	9:138011686	0
TP53	7157	broad.mit.edu	37	17	7577141	7577141	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:7577141C>A	ENST00000420246.2	-	8	929	c.797G>T	c.(796-798)gGa>gTa	p.G266V	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.G266V|TP53_ENST00000455263.2_Missense_Mutation_p.G266V|TP53_ENST00000359597.4_Missense_Mutation_p.G266V|TP53_ENST00000269305.4_Missense_Mutation_p.G266V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> 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.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)		GCTGTTCCGTCCCAGTAGATT	0.517		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)			False	0	True	17:7577141	0
SIGLEC1	6614	broad.mit.edu	37	20	3674202	3674202	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr20:3674202T>C	ENST00000344754.4	-	13	3399	c.3400A>G	c.(3400-3402)Atc>Gtc	p.I1134V	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.I1134V	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1134	Ig-like C2-type 11.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGCAGGGGGATGGAGTGGGCA	0.657		NA											False	0	False	20:3674202	0
TBC1D9	23158	broad.mit.edu	37	4	141543566	141543566	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:141543566C>A	ENST00000442267.2	-	21	3658	c.3584G>T	c.(3583-3585)gGc>gTc	p.G1195V		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1195						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGCCGCCGTGCCCTGGCCGCT	0.662		NA											False	0	True	4:141543566	0
MAP3K14	9020	broad.mit.edu	37	17	43345029	43345029	+	RNA	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:43345029C>T	ENST00000344686.2	-	0	2175				MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA			Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14	NA					cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AAAGCTCTCTCGGCTGGGCAT	0.607		NA											False	0	True	17:43345029	0
APOL5	80831	broad.mit.edu	37	22	36122258	36122258	+	Splice_Site	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr22:36122258C>T	ENST00000249044.2	+	3	143	c.143C>T	c.(142-144)cCc>cTc	p.P48L		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	48					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						ATGTCTTTAGCCTCACTCGTG	0.443		NA											False	0	False	22:36122258	0
FTMT	94033	broad.mit.edu	37	5	121188321	121188321	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:121188321G>A	ENST00000321339.1	+	1	672	c.663G>A	c.(661-663)ccG>ccA	p.P221P		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	221					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TGGGGGCCCCGGATGCTGGCC	0.502		NA											False	0	True	5:121188321	0
RPL36AL	6166	broad.mit.edu	37	14	50085694	50085694	+	Silent	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:50085694C>T	ENST00000298289.6	-	2	288	c.129G>A	c.(127-129)cgG>cgA	p.R43R		NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN	ribosomal protein L36a-like	43					translation	ribosome	structural constituent of ribosome				NA	all_epithelial(31;0.0021)|Breast(41;0.0124)					CACTCTGCTTCCGATCATAGC	0.483		NA											False	0	False	14:50085694	0
GFOD2	81577	broad.mit.edu	37	16	67709902	67709902	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr16:67709902C>T	ENST00000268797.7	-	3	659	c.314G>A	c.(313-315)cGg>cAg	p.R105Q	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	105						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TGTCACCATCCGGAAGGCATC	0.537		NA											False	0	False	16:67709902	0
DENND5A	23258	broad.mit.edu	37	11	9192301	9192301	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:9192301C>T	ENST00000328194.3	-	9	2250	c.1930G>A	c.(1930-1932)Gca>Aca	p.A644T	DENND5A_ENST00000530044.1_Missense_Mutation_p.A644T|DENND5A_ENST00000527700.1_5'UTR	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	644										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCAATTTTTGCCAGACGCAGC	0.413		NA											False	0	False	11:9192301	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398284	0
SEMA4G	57715	broad.mit.edu	37	10	102743445	102743445	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:102743445G>A	ENST00000210633.3	+	14	2167	c.2089G>A	c.(2089-2091)Gcc>Acc	p.A697T	MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000517724.1_Intron|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000370250.4_Missense_Mutation_p.A692T|MRPL43_ENST00000342071.1_Intron|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000318325.2_Intron			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	692					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CCTCATCCTGGCCTCCTCCCT	0.642		NA											False	0	False	10:102743445	0
DACT1	51339	broad.mit.edu	37	14	59113461	59113461	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:59113461C>T	ENST00000395153.3	+	4	2156	c.2009C>T	c.(2008-2010)gCg>gTg	p.A670V	DACT1_ENST00000335867.4_Missense_Mutation_p.A707V|DACT1_ENST00000541264.2_Missense_Mutation_p.A426V|DACT1_ENST00000556859.1_Missense_Mutation_p.A426V	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	707					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CTGTACCCCGCGCCTGTGCCT	0.677		NA											False	0	False	14:59113461	0
ITGA7	3679	broad.mit.edu	37	12	56082681	56082681	+	Missense_Mutation	SNP	G	G	A	rs17857368		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:56082681G>A	ENST00000257880.7	-	23	3256	c.3037C>T	c.(3037-3039)Cgc>Tgc	p.R1013C	ITGA7_ENST00000553804.1_Missense_Mutation_p.R973C|ITGA7_ENST00000394230.2_Missense_Mutation_p.R973C|ITGA7_ENST00000257879.6_Missense_Mutation_p.R969C|ITGA7_ENST00000452168.2_Missense_Mutation_p.R876C|ITGA7_ENST00000555728.1_Missense_Mutation_p.R1013C|ITGA7_ENST00000394229.2_Missense_Mutation_p.R969C|ITGA7_ENST00000347027.6_Missense_Mutation_p.R963C			Q13683	ITA7_HUMAN	integrin, alpha 7	1013					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ACAGCCGCGCGGTCAAAGCTG	0.587		NA											False	0	True	12:56082681	0
SYCP1	6847	broad.mit.edu	37	1	115417138	115417138	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:115417138C>T	ENST00000369522.3	+	9	850	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	SYCP1_ENST00000369518.1_Missense_Mutation_p.R204W	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	204					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	p.R204W(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGAATATGAACGGGAAGAAAC	0.264		NA											False	0	True	1:115417138	0
BCLAF1	9774	broad.mit.edu	37	6	136590607	136590607	+	Silent	SNP	A	A	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr6:136590607A>G	ENST00000531224.1	-	9	2439	c.2187T>C	c.(2185-2187)gaT>gaC	p.D729D	BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000530767.1_Silent_p.D556D|BCLAF1_ENST00000392348.2_Silent_p.D727D|BCLAF1_ENST00000353331.4_Silent_p.D727D|BCLAF1_ENST00000527759.1_Silent_p.D727D|BCLAF1_ENST00000527536.1_Silent_p.D729D	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	729					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATTCCTTGTAATCTTTTGGAG	0.363		NA											False	0	False	6:136590607	0
LRP1B	53353	broad.mit.edu	37	2	141128374	141128374	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:141128374C>T	ENST00000389484.3	-	71	11884	c.10913G>A	c.(10912-10914)cGg>cAg	p.R3638Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3638	LDL-receptor class A 29.				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)		ATTTTTGCACCGAAACTGATC	0.388		NA								TSP Lung(27;0.18)			False	0	False	2:141128374	0
OR5M1	390168	broad.mit.edu	37	11	56380401	56380401	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:56380401C>T	ENST00000526538.1	-	1	577	c.578G>A	c.(577-579)cGt>cAt	p.R193H		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						CTTTTTGACACGGGTGTCAGA	0.433		NA											False	0	True	11:56380401	0
HDHD1	8226	broad.mit.edu	37	X	7023672	7023672	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:7023672G>A	ENST00000381077.5	-	2	345	c.269C>T	c.(268-270)gCg>gTg	p.A90V	HDHD1_ENST00000498474.2_5'UTR|HDHD1_ENST00000540122.1_Missense_Mutation_p.A90V|HDHD1_ENST00000412827.2_Intron|HDHD1_ENST00000424830.2_Missense_Mutation_p.A113V	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	90					nucleotide metabolic process		metal ion binding|phosphatase activity			breast(2)|large_intestine(1)|lung(3)	6						TGGCATGAGCGCAGCCGTGGG	0.488		NA											False	0	False	X:7023672	0
SAFB	6294	broad.mit.edu	37	19	5654163	5654163	+	Missense_Mutation	SNP	G	G	A	rs11542075		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:5654163G>A	ENST00000292123.5	+	12	1725	c.1618G>A	c.(1618-1620)Gat>Aat	p.D540N	SAFB_ENST00000588852.1_Missense_Mutation_p.D540N|SAFB_ENST00000538656.1_Missense_Mutation_p.D383N|SAFB_ENST00000454510.1_Missense_Mutation_p.D471N|SAFB_ENST00000433404.1_Missense_Mutation_p.D370N|SAFB_ENST00000592224.1_Missense_Mutation_p.D540N	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	540	Interaction with POLR2A.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		TAAGGACCAAGATGATCAGAA	0.463		NA											False	0	False	19:5654163	0
DCP2	167227	broad.mit.edu	37	5	112337346	112337346	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:112337346G>A	ENST00000389063.2	+	7	979	c.781G>A	c.(781-783)Gct>Act	p.A261T	DCP2_ENST00000543319.1_Missense_Mutation_p.A50T|DCP2_ENST00000515408.1_Missense_Mutation_p.A261T	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	261					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		TAGCACGCCGGCTAAACCCAC	0.373		NA											False	0	False	5:112337346	0
FSTL4	23105	broad.mit.edu	37	5	132559896	132559896	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:132559896A>G	ENST00000265342.7	-	11	1574	c.1325T>C	c.(1324-1326)cTg>cCg	p.L442P	CTB-49A3.2_ENST00000502776.1_RNA|CTB-49A3.2_ENST00000509051.1_RNA|FSTL4_ENST00000507112.1_Intron	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	442						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCTCGCCACAGGATGTTTGC	0.483		NA											False	0	False	5:132559896	0
LMO7	4008	broad.mit.edu	37	13	76379654	76379654	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr13:76379654G>A	ENST00000357063.3	+	10	2370	c.1110G>A	c.(1108-1110)tgG>tgA	p.W370*	LMO7_ENST00000341547.4_Intron|LMO7_ENST00000465261.2_Nonsense_Mutation_p.W85*|LMO7_ENST00000321797.8_Nonsense_Mutation_p.W85*|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000377534.3_Nonsense_Mutation_p.W370*|RP11-29G8.3_ENST00000563635.1_RNA			Q8WWI1	LMO7_HUMAN	LIM domain 7	370						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TGGAGAACTGGCCAACTGTAC	0.408		NA											False	0	False	13:76379654	0
ESPNL	339768	broad.mit.edu	37	2	239037368	239037368	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:239037368G>A	ENST00000343063.3	+	8	1499	c.1236G>A	c.(1234-1236)gcG>gcA	p.A412A	ESPNL_ENST00000409169.1_Silent_p.A368A|ESPNL_ENST00000409506.1_Silent_p.A44A	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	412										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CGGCGCTGGCGGGGGACACCT	0.701		NA											False	0	True	2:239037368	0
FAM107A	11170	broad.mit.edu	37	3	58555463	58555463	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:58555463C>T	ENST00000394481.1	-	3	683	c.125G>A	c.(124-126)cGg>cAg	p.R42Q	FAM107A_ENST00000474531.1_Missense_Mutation_p.R73Q|FAM107A_ENST00000360997.2_Missense_Mutation_p.R42Q|FAM107A_ENST00000464064.1_Missense_Mutation_p.R42Q|FAM107A_ENST00000447756.2_Missense_Mutation_p.R70Q	NM_001282713.1|NM_007177.2	NP_001269642.1|NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A	42					regulation of cell growth	nucleus	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		CTGGTGACTCCGAGAGGCCTT	0.632		NA											False	0	False	3:58555463	0
CD44	960	broad.mit.edu	37	11	35218362	35218362	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:35218362C>A	ENST00000428726.2	+	6	860	c.737C>A	c.(736-738)tCa>tAa	p.S246*	CD44_ENST00000415148.2_Intron|CD44_ENST00000437706.2_Nonsense_Mutation_p.S246*|CD44_ENST00000434472.2_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000449691.2_Nonsense_Mutation_p.S246*|CD44_ENST00000278386.6_Intron|CD44_ENST00000433892.2_Intron|CD44_ENST00000433354.2_Nonsense_Mutation_p.S246*|CD44_ENST00000360158.4_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000526669.2_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	246	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	GATTGGTTTTCATGGTTGTTT	0.383		NA											False	0	True	11:35218362	0
MAGEB2	4113	broad.mit.edu	37	X	30236753	30236753	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:30236753G>A	ENST00000378988.4	+	2	157	c.56G>A	c.(55-57)cGa>cAa	p.R19Q		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	19							protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CGCAAGGCCCGAGATGAGACC	0.552		NA											False	0	True	X:30236753	0
GBX2	2637	broad.mit.edu	37	2	237074778	237074778	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:237074778C>T	ENST00000306318.4	-	2	1223	c.826G>A	c.(826-828)Gag>Aag	p.E276K	GBX2_ENST00000551105.1_3'UTR|GBX2_ENST00000465889.1_5'UTR	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	276						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		TGCGAGCGCTCGGTCAAGGAG	0.602		NA											False	0	False	2:237074778	0
LAMA1	284217	broad.mit.edu	37	18	7032156	7032156	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr18:7032156T>C	ENST00000389658.3	-	16	2276	c.2183A>G	c.(2182-2184)tAc>tGc	p.Y728C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	728	Laminin EGF-like 5; second part.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATCCACGCGGTAATAGCCAGA	0.478		NA											False	0	False	18:7032156	0
CT45A4	441520	broad.mit.edu	37	X	134932820	134932820	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:134932820G>T	ENST00000487941.2	-	2	253	c.164C>A	c.(163-165)gCa>gAa	p.A55E	CT45A4_ENST00000434966.2_Missense_Mutation_p.A55E|CT45A4_ENST00000494421.1_Missense_Mutation_p.A55E|CT45A4_ENST00000420087.2_Intron			Q8N7B7	CT454_HUMAN	cancer/testis antigen family 45, member A4	NA											NA						CTTACTCTTTGCTTTGGACAT	0.507		NA											False	0	True	X:134932820	0
CSNK1G3	1456	broad.mit.edu	37	5	122923840	122923840	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:122923840G>A	ENST00000395412.1	+	7	1471	c.752G>A	c.(751-753)gGc>gAc	p.G251D	CSNK1G3_ENST00000345990.4_Missense_Mutation_p.G251D|CSNK1G3_ENST00000521364.1_Missense_Mutation_p.G251D|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.G251D|CSNK1G3_ENST00000512718.3_Missense_Mutation_p.G176D|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.G251D|CSNK1G3_ENST00000361991.2_Missense_Mutation_p.G251D|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.G251D|CSNK1G3_ENST00000511130.2_Missense_Mutation_p.G138D			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	251	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		CCTTGGCAAGGCTTAAAGGTA	0.284		NA											False	0	False	5:122923840	0
TMEM248	55069	broad.mit.edu	37	7	66410199	66410199	+	Silent	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr7:66410199C>T	ENST00000341567.4	+	3	651	c.396C>T	c.(394-396)aaC>aaT	p.N132N		NM_017994.4	NP_060464.1			transmembrane protein 248	NA											NA						ATTCCCGCAACGTCACCCATC	0.547		NA											False	0	False	7:66410199	0
PRDM9	56979	broad.mit.edu	37	5	23526988	23526988	+	Silent	SNP	T	T	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:23526988T>A	ENST00000296682.3	+	11	1973	c.1791T>A	c.(1789-1791)acT>acA	p.T597T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	597					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCCTCCTCACTCACCAGAGGA	0.592		NA								HNSCC(3;0.000094)			False	0	True	5:23526988	0
TRIM33	51592	broad.mit.edu	37	1	114968220	114968220	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:114968220G>T	ENST00000358465.2	-	9	1629	c.1546C>A	c.(1546-1548)Ctc>Atc	p.L516I	TRIM33_ENST00000450349.2_Missense_Mutation_p.L124I|TRIM33_ENST00000369543.2_Missense_Mutation_p.L516I	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	516					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGTGCTGGAGTCGAAGCTGT	0.458		NA	T	RET	papillary thyroid								False	0	False	1:114968220	0
MYO18B	84700	broad.mit.edu	37	22	26165019	26165019	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr22:26165019G>A	ENST00000335473.7	+	4	1386	c.1136G>A	c.(1135-1137)cGg>cAg	p.R379Q	MYO18B_ENST00000536101.1_Missense_Mutation_p.R379Q|MYO18B_ENST00000407587.2_Missense_Mutation_p.R379Q	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	379			R -> Q (in a lung small cell carcinoma sample; somatic mutation).			nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGTGAGCTTCGGAGCACGACT	0.577		NA											False	0	False	22:26165019	0
SLC8A2	6543	broad.mit.edu	37	19	47969356	47969356	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:47969356G>A	ENST00000236877.6	-	2	700	c.305C>T	c.(304-306)tCa>tTa	p.S102L	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	102					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CTTCTCTTTTGACGTGATGAC	0.577		NA											False	0	True	19:47969356	0
HLA-DQB2	3120	broad.mit.edu	37	6	32726818	32726818	+	Missense_Mutation	SNP	G	G	C	rs34554556		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr6:32726818G>C	ENST00000435145.2	-	3	516	c.455C>G	c.(454-456)gCc>gGc	p.A152G	HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.A152G|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.A152G			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	152					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						TTTGATCTGGGCTGGATAGAA	0.567		NA											False	0	True	6:32726818	0
RALGAPA2	57186	broad.mit.edu	37	20	20563724	20563724	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr20:20563724G>T	ENST00000202677.7	-	20	2684	c.2677C>A	c.(2677-2679)Ctg>Atg	p.L893M		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	NA					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GTGGGACTCAGTTGTAACCAA	0.468		NA											False	0	False	20:20563724	0
CBLB	868	broad.mit.edu	37	3	105456084	105456084	+	Silent	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:105456084C>T	ENST00000264122.4	-	8	1323	c.1002G>A	c.(1000-1002)ggG>ggA	p.G334G	CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000405772.1_Silent_p.G334G|CBLB_ENST00000394027.3_Silent_p.G356G|CBLB_ENST00000403724.1_Silent_p.G334G	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	334	Cbl-PTB.|SH2-like.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TATAACTCCTCCCATCAGGAT	0.264		NA	Mis S		AML								False	0	True	3:105456084	0
ADARB2	105	broad.mit.edu	37	10	1406022	1406022	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:1406022G>A	ENST00000381312.1	-	3	603	c.278C>T	c.(277-279)gCg>gTg	p.A93V		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	93					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		cgcgccgggcgcgccgccccg	0.726		NA											False	0	True	10:1406022	0
DSCR4	10281	broad.mit.edu	37	21	39492431	39492431	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr21:39492431G>A	ENST00000328264.3	-	2	304	c.200C>T	c.(199-201)aCg>aTg	p.T67M	DSCR4_ENST00000398948.1_Missense_Mutation_p.T67M	NM_005867.2	NP_005858.1	P56555	DSCR4_HUMAN	Down syndrome critical region gene 4	67										large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	6						tccagaatccgtaggagaagc	0.363		NA											False	0	False	21:39492431	0
FAM66D	0	broad.mit.edu	37	8	11986707	11986707	+	RNA	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr8:11986707G>A	ENST00000434078.2	+	0	608					NR_027425.1					NA											NA						AGAGAAGTCCGCTGGATTTCA	0.517		NA											False	0	False	8:11986707	0
HIPK3	10114	broad.mit.edu	37	11	33373763	33373763	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:33373763G>A	ENST00000303296.4	+	16	3428	c.3123G>A	c.(3121-3123)caG>caA	p.Q1041Q	HIPK3_ENST00000456517.1_Silent_p.Q1020Q|HIPK3_ENST00000525975.1_Silent_p.Q1020Q|HIPK3_ENST00000379016.3_Silent_p.Q1020Q	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1041					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						GTACTCGTCAGCAAAAATTGA	0.413		NA											False	0	False	11:33373763	0
