Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CACNA1S	779	broad.mit.edu	37	1	201061195	201061195	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:201061195G>A	ENST00000362061.3	-	4	672	c.446C>T	c.(445-447)aCa>aTa	p.T149I	CACNA1S_ENST00000367338.3_Missense_Mutation_p.T149I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	149					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CATTGGGGCTGTGTGGCTTTG	0.597000													49	74					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16001226	16001226	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:16001226C>T	ENST00000221700.5	-	6	638	c.543G>A	c.(541-543)ctG>ctA	p.L181L	CYP4F2_ENST00000592328.1_Silent_p.L181L|CYP4F2_ENST00000011989.7_Silent_p.L32L	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	181					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCTCTGAGGCCAGGAGCTGCC	0.557000													30	32					0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5768221	5768221	+	Silent	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:5768221C>G	ENST00000381624.3	+	18	1663	c.1602C>G	c.(1600-1602)acC>acG	p.T534T	CATSPERD_ENST00000381614.2_Silent_p.T192T|CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	534						integral to membrane											ACCCCTTGACCCTGCAAGACA	0.522000													17	129					0	0	1	0	0
FAH	2184	broad.mit.edu	37	15	80450432	80450432	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:80450432G>A	ENST00000407106.1	+	3	267	c.112G>A	c.(112-114)Gac>Aac	p.D38N	FAH_ENST00000539156.1_5'UTR|FAH_ENST00000561421.1_Missense_Mutation_p.D38N|FAH_ENST00000261755.5_Missense_Mutation_p.D38N			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	38					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGCCATTGGCGACCAGATCCT	0.527000									Tyrosinemia, type 1				41	202					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10545739	10545739	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:10545739G>A	ENST00000583535.1	-	16	1970	c.1883C>T	c.(1882-1884)gCg>gTg	p.A628V	MYH3_ENST00000226209.7_Missense_Mutation_p.A628V	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	628	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTTACCATCCGCCGTGGCAAA	0.507000													16	102					0	0	1	0	0
EIF3H	8667	broad.mit.edu	37	8	117658759	117658759	+	Silent	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:117658759G>C	ENST00000521861.1	-	7	935	c.912C>G	c.(910-912)ctC>ctG	p.L304L	EIF3H_ENST00000276682.4_Silent_p.L318L	NM_003756.2	NP_003747.1	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3, subunit H	304					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					GTGGTTTGAAGAGTTTGGACA	0.542000													54	357					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118516127	118516127	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:118516127G>A	ENST00000336338.5	-	44	6127	c.6062C>T	c.(6061-6063)gCg>gTg	p.A2021V	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2021						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TGTTTGTCCCGCAACATCCTG	0.398000													5	260					0	0	1	0	0
TRAV8-4	28682	broad.mit.edu	37	14	22362781	22362781	+	RNA	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:22362781C>T	ENST00000390438.2	+	0	169																											GTGATTTTTACCCTGGGTTAG	0.488000											OREG0022572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	74					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26413696	26413696	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:26413696C>T	ENST00000381655.2	+	30	3032	c.2890C>T	c.(2890-2892)Cac>Tac	p.H964Y	ATP8A2_ENST00000255283.8_Missense_Mutation_p.H899Y|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	924					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TTTCTGGGGTCACTGCATCAA	0.498000													26	202					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940817	22940817	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:22940817G>A	ENST00000397104.3	-	5	1620	c.1621C>T	c.(1621-1623)Cag>Tag	p.Q541*	ZNF99_ENST00000596209.1_Nonsense_Mutation_p.Q632*					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GTTGAGGACTGGCTAAAAGCT	0.388000													38	69					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176707725	176707725	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:176707725G>T	ENST00000439151.2	+	18	5827	c.5782G>T	c.(5782-5784)Gga>Tga	p.G1928*	NSD1_ENST00000347982.4_Nonsense_Mutation_p.G1659*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.G1659*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.G1825*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1928	AWS.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GTGTCCTGCCGGAGGGCGCTG	0.512000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			17	63					3.41278e-10	4.04918e-10	1	1	0
RWDD2B	10069	broad.mit.edu	37	21	30391545	30391545	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr21:30391545C>T	ENST00000493196.1	-	1	154	c.54G>A	c.(52-54)ggG>ggA	p.G18G	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	18										endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						GAGCCGTGGCCCCCTCACTGC	0.582000													4	9					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93029586	93029586	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:93029586T>A	ENST00000523629.1	-	3	548	c.94A>T	c.(94-96)Act>Tct	p.T32S	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.T5S|RUNX1T1_ENST00000522163.1_5'UTR|RUNX1T1_ENST00000360348.2_5'UTR|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.T5S|RUNX1T1_ENST00000520724.1_5'UTR|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.T32S|RUNX1T1_ENST00000521553.1_5'UTR|RUNX1T1_ENST00000422361.2_5'UTR|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.T43S	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	32					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGCTTCTCAGTACGATCTGGA	0.458000													13	92					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110448575	110448575	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:110448575C>G	ENST00000378402.5	+	30	3618	c.3514C>G	c.(3514-3516)Cta>Gta	p.L1172V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1172	IPT/TIG 5.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGGTGGTACTCTACTGACTTT	0.308000										HNSCC(38;0.096)			10	89					0	0	1	0	0
PIM1	5292	broad.mit.edu	37	6	37138806	37138806	+	Splice_Site	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:37138806T>C	ENST00000373509.5	+	3	612	c.240_splice	c.e3+1	p.L80_splice		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	pim-1 oncogene	171					cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	TGGGGAGAGCTGGTGAGTGCC	0.677000			T	BCL6	NHL								4	131					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176029	57176029	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:57176029A>T	ENST00000537055.2	-	2	769	c.538T>A	c.(538-540)Tac>Aac	p.Y180N		NM_001005850.2	NP_001005850.2			zinc finger protein 835											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						GACGCCAGGTACGAGCCCTGG	0.706000													7	6					0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915308	39915308	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:39915308C>T	ENST00000425673.1	+	17	3773	c.3448C>T	c.(3448-3450)Cct>Tct	p.P1150S	PLEKHG2_ENST00000458508.2_Missense_Mutation_p.P1120S|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.P1179S			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1179	Pro-rich.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGCGGCTGCACCTCCACTTCC	0.572000													41	233					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13721328	13721328	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:13721328C>A	ENST00000265104.4	-	71	12164	c.12060G>T	c.(12058-12060)atG>atT	p.M4020I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4020	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATTTTTCTCCCATGGAGTCCA	0.453000									Kartagener syndrome				71	81					2.29502e-22	3.17141e-22	1	1	0
NR4A2	4929	broad.mit.edu	37	2	157182511	157182511	+	Splice_Site	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:157182511C>A	ENST00000339562.4	-	8	1904	c.1540_splice	c.e8-1	p.E514_splice	NR4A2_ENST00000409572.1_Splice_Site_p.E514_splice|NR4A2_ENST00000429376.1_Splice_Site_p.E417_splice|NR4A2_ENST00000409108.2_Splice_Site_p.E480_splice|NR4A2_ENST00000539077.1_Splice_Site_p.E525_splice|NR4A2_ENST00000426264.1_Splice_Site_p.E451_splice	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	514					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GCCCGTGTCTCTCTGCAGAAA	0.423000													9	62					0.000274275	0.000291386	1	1	0
IQCH	64799	broad.mit.edu	37	15	67652185	67652185	+	Splice_Site	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:67652185G>T	ENST00000335894.4	+	8	781	c.714_splice	c.e8-1	p.G239_splice	IQCH_ENST00000358767.3_Splice_Site_p.G66_splice|IQCH_ENST00000546225.1_5'UTR	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	239										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TTCATTGTAGGGGAAAAGCAG	0.418000													26	186					3.73148e-12	4.5871e-12	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105408280	105408280	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:105408280T>C	ENST00000333244.5	-	7	13627	c.13508A>G	c.(13507-13509)cAg>cGg	p.Q4503R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4503						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGGTCCCCCTGCATGGAGGG	0.597000													42	211					0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	632905	632905	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:632905G>T	ENST00000321878.5	+	11	1775	c.1616G>T	c.(1615-1617)cGc>cTc	p.R539L	PIGQ_ENST00000026218.5_Silent_p.P518P|PIGQ_ENST00000409527.2_Missense_Mutation_p.R539L	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	0					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CCCTACAGCCGCGTGGTGCAC	0.667000													103	145					4.85316e-53	7.55371e-53	1	1	0
RHOU	58480	broad.mit.edu	37	1	228879196	228879196	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:228879196G>T	ENST00000366691.3	+	3	1152	c.486G>T	c.(484-486)caG>caT	p.Q162H		NM_021205.5	NP_067028.1	Q7L0Q8	RHOU_HUMAN	ras homolog family member U	162					regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				TTGGAACGCAGTCGGATCTCA	0.527000													76	143					2.0493e-37	3.08996e-37	1	1	0
PTPN14	5784	broad.mit.edu	37	1	214551325	214551325	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:214551325T>A	ENST00000366956.5	-	14	2859	c.2665A>T	c.(2665-2667)Acc>Tcc	p.T889S	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	889					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGAACCCGGGTGGCATCAACT	0.567000													42	94					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17202577	17202577	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:17202577A>G	ENST00000261381.6	-	12	2939	c.2855T>C	c.(2854-2856)gTc>gCc	p.V952A		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	952					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATCAGGTTTGACTGCCCCCAG	0.662000													5	42					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525640	176525640	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:176525640C>G	ENST00000367662.3	+	2	1346	c.182C>G	c.(181-183)gCt>gGt	p.A61G	PAPPA2_ENST00000367661.3_Missense_Mutation_p.A61G	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	61					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGACCCAGAGCTTCTCCACAG	0.557000													100	216					0	0	1	0	0
DGCR14	8220	broad.mit.edu	37	22	19127505	19127505	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr22:19127505G>A	ENST00000252137.6	-	4	476	c.433C>T	c.(433-435)Ctg>Ttg	p.L145L		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	145					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					AGGCTGGGCAGCGGCTCCTTC	0.612000													85	131					0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18368706	18368706	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:18368706G>A	ENST00000392413.3	-	4	3603	c.3388C>T	c.(3388-3390)Cgt>Tgt	p.R1130C	KIAA1683_ENST00000600328.2_Missense_Mutation_p.R943C|KIAA1683_ENST00000600359.2_Missense_Mutation_p.R897C	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	1130	IQ 5.					mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATCCTGCGACGCGCCAGGTAG	0.672000													50	71					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11543689	11543689	+	Missense_Mutation	SNP	G	G	C	rs111906560	byFrequency	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:11543689G>C	ENST00000262442.3	+	10	1957	c.1889G>C	c.(1888-1890)cGc>cCc	p.R630P	DNAH9_ENST00000454412.2_Missense_Mutation_p.R630P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	630	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AACTTTGGACGCATCACACAC	0.557000													37	179					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48232119	48232119	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:48232119C>T	ENST00000394747.1	-	15	2499	c.2150G>A	c.(2149-2151)aGt>aAt	p.S717N	ABCC11_ENST00000356608.2_Missense_Mutation_p.S717N|ABCC11_ENST00000394748.1_Missense_Mutation_p.S717N|ABCC11_ENST00000537808.1_Missense_Mutation_p.S717N|ABCC11_ENST00000353782.5_Missense_Mutation_p.S717N	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	717	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CATTAACTCACTGTGAGTTCC	0.438000													30	150					0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74388027	74388027	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:74388027C>G	ENST00000319380.7	-	16	3178	c.3114G>C	c.(3112-3114)aaG>aaC	p.K1038N		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1038							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TGACACACACCTTCCCATTGT	0.607000													8	27					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11597644	11597644	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:11597644C>T	ENST00000262442.3	+	22	4820	c.4752C>T	c.(4750-4752)tgC>tgT	p.C1584C	DNAH9_ENST00000454412.2_Silent_p.C1584C	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1584	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCAGATTGTGCCTGTGTGAGA	0.458000													4	96					0	0	1	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77216208	77216208	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:77216208C>A	ENST00000426126.2	+	8	1443	c.794C>A	c.(793-795)gCa>gAa	p.A265E	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.A265E	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	265					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						CTTGATTTGGCAAAACAGAGA	0.363000													19	46					1.9806e-07	2.23541e-07	1	1	0
SYTL2	54843	broad.mit.edu	37	11	85436114	85436114	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:85436114G>T	ENST00000359152.5	-	1	2957	c.2958C>A	c.(2956-2958)gaC>gaA	p.D986E	SYTL2_ENST00000354566.3_Missense_Mutation_p.D462E|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.D462E	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	0					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		AATCCTTCCTGTCTGGAACTA	0.448000													48	56					7.88023e-25	1.1183e-24	1	1	0
TRBV6-1	28606	broad.mit.edu	37	7	142028185	142028185	+	RNA	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:142028185T>C	ENST00000390353.2	+	0	65																											GCCATGAGCATCGGGCTCCTG	0.557000													51	107					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16258907	16258907	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:16258907G>A	ENST00000375759.3	+	11	6376	c.6172G>A	c.(6172-6174)Gcc>Acc	p.A2058T		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2058					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCCTGAAACCGCCCCTGTTGA	0.498000													4	124					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29762806	29762806	+	Silent	SNP	C	C	G	rs139597633		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:29762806C>G	ENST00000375398.2	-	32	5939	c.5490G>C	c.(5488-5490)gcG>gcC	p.A1830A	PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000355867.4_Silent_p.A1830A|SVIL_ENST00000375400.3_Silent_p.A1404A|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000460007.1_5'UTR|SVIL_ENST00000535393.1_Silent_p.A744A			O95425	SVIL_HUMAN	supervillin	1830					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CCGTCATCAGCGCCGACGTGC	0.647000													24	80					0	0	1	0	0
LVRN	206338	broad.mit.edu	37	5	115298688	115298688	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:115298688T>C	ENST00000357872.4	+	1	498	c.374T>C	c.(373-375)tTg>tCg	p.L125S	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		125					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										GCCGGGTCTTTGCCCTTCACT	0.687000													28	87					0	0	1	0	0
PUF60	22827	broad.mit.edu	37	8	144900183	144900183	+	Silent	SNP	T	T	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:144900183T>G	ENST00000526683.1	-	8	1221	c.666A>C	c.(664-666)gcA>gcC	p.A222A	PUF60_ENST00000349157.6_Silent_p.A205A|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000453551.2_Silent_p.A179A|PUF60_ENST00000313352.7_Silent_p.A162A|PUF60_ENST00000456095.2_Silent_p.A193A|PUF60_ENST00000527197.1_Silent_p.A176A	NM_001271098.1|NM_078480.1	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	222	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TGAAGGCCCGTGCCTCCTCAG	0.587000													5	43					0	0	1	0	0
PTPN12	5782	broad.mit.edu	37	7	77256227	77256227	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:77256227A>C	ENST00000248594.6	+	13	1503	c.1231A>C	c.(1231-1233)Aaa>Caa	p.K411Q	PTPN12_ENST00000415482.2_Missense_Mutation_p.K292Q|PTPN12_ENST00000435495.2_Missense_Mutation_p.K281Q	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	411	Interaction with TGFB1I1 (By similarity).					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						AAACTATAGTAAATCAACAGA	0.368000													14	82					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10267796	10267796	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:10267796G>A	ENST00000418404.3	-	2	215	c.52C>T	c.(52-54)Cgg>Tgg	p.R18W	MYH13_ENST00000570743.1_Missense_Mutation_p.R18W|MYH13_ENST00000252172.4_Missense_Mutation_p.R18W			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	18	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.R18R(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTGGTTTCCGGAGGTAGGGA	0.493000													16	13					0	0	1	0	0
SHC3	53358	broad.mit.edu	37	9	91656972	91656972	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:91656972C>A	ENST00000375835.4	-	10	1635	c.1329G>T	c.(1327-1329)gaG>gaT	p.E443D	SHC3_ENST00000375831.1_5'UTR|SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	443	CH1.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						TTGGGCTGCTCTCAGCACTGC	0.517000													26	140					1.08312e-15	1.39052e-15	1	1	0
ZC3H14	79882	broad.mit.edu	37	14	89041109	89041109	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:89041109G>T	ENST00000251038.5	+	7	1159	c.934G>T	c.(934-936)Gga>Tga	p.G312*	ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000557607.1_Nonsense_Mutation_p.G157*|ZC3H14_ENST00000556945.1_Nonsense_Mutation_p.G312*|ZC3H14_ENST00000393514.5_Nonsense_Mutation_p.G312*|ZC3H14_ENST00000359301.3_Nonsense_Mutation_p.G278*|ZC3H14_ENST00000336693.4_Nonsense_Mutation_p.G278*|ZC3H14_ENST00000302216.8_Nonsense_Mutation_p.G312*|ZC3H14_ENST00000555755.1_Nonsense_Mutation_p.G312*	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	312						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CAATCATGATGGAGAAGAGGA	0.413000													10	55					0.000442599	0.00046935	1	1	0
MGRN1	23295	broad.mit.edu	37	16	4731766	4731766	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:4731766G>T	ENST00000399577.5	+	13	1440	c.1347G>T	c.(1345-1347)aaG>aaT	p.K449N	MGRN1_ENST00000588994.1_Missense_Mutation_p.K427N|MGRN1_ENST00000586183.1_Missense_Mutation_p.K427N|MGRN1_ENST00000415496.1_Missense_Mutation_p.K428N|MGRN1_ENST00000262370.7_Missense_Mutation_p.K449N	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	449					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CGCAGAGCAAGGCCCCCGACA	0.647000													5	28					0.010729	0.0111129	1	1	0
OR5J2	282775	broad.mit.edu	37	11	55944458	55944458	+	Missense_Mutation	SNP	G	G	T	rs151315491		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:55944458G>T	ENST00000312298.1	+	1	365	c.365G>T	c.(364-366)cGc>cTc	p.R122L		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GCCTATGACCGCTATGTGGCC	0.453000													71	68					1.55545e-33	2.2858e-33	1	1	0
OTOGL	283310	broad.mit.edu	37	12	80735783	80735783	+	Silent	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:80735783T>A	ENST00000458043.2	+	43	5085	c.5079T>A	c.(5077-5079)atT>atA	p.I1693I	OTOGL_ENST00000547103.1_Silent_p.I1681I	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GCACAATTATTACAAATATGG	0.318000													4	21					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179593122	179593122	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:179593122G>T	ENST00000589042.1	-	67	19653	c.19429C>A	c.(19429-19431)Caa>Aaa	p.Q6477K	TTN_ENST00000342992.6_Missense_Mutation_p.Q5233K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.Q6160K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6160	Ig-like 46.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAATATTTTGATCTGTCCAA	0.373000													13	14					9.05144e-12	1.10332e-11	1	1	0
MEIS2	4212	broad.mit.edu	37	15	37388489	37388489	+	Splice_Site	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:37388489C>A	ENST00000338564.5	-	4	834		c.e4+1		MEIS2_ENST00000557796.2_Splice_Site|MEIS2_ENST00000397624.3_Splice_Site|MEIS2_ENST00000559085.1_Splice_Site|MEIS2_ENST00000219869.9_Intron|MEIS2_ENST00000561208.1_Splice_Site|MEIS2_ENST00000444725.1_Splice_Site|MEIS2_ENST00000397620.2_Splice_Site|MEIS2_ENST00000382766.2_Splice_Site|MEIS2_ENST00000424352.2_Splice_Site|MEIS2_ENST00000340545.5_Splice_Site|MEIS2_ENST00000559561.1_Splice_Site	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2						negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GAAGGCTGGACCTGCTTGGCG	0.607000													4	24					0.00024832	0.000264783	1	1	0
BDNF	627	broad.mit.edu	37	11	27679629	27679629	+	Silent	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:27679629G>T	ENST00000525528.1	-	1	1576	c.483C>A	c.(481-483)ggC>ggA	p.G161G	BDNF_ENST00000533131.1_Silent_p.G161G|BDNF_ENST00000395981.3_Silent_p.G161G|BDNF_ENST00000418212.1_Silent_p.G161G|BDNF_ENST00000584049.1_5'UTR|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000525950.1_Silent_p.G161G|BDNF_ENST00000533246.1_Silent_p.G161G|BDNF_ENST00000439476.2_Silent_p.G161G|BDNF_ENST00000395980.2_Silent_p.G161G|BDNF_ENST00000530861.1_Silent_p.G161G|BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000395978.3_Silent_p.G161G|BDNF_ENST00000532997.1_Silent_p.G161G|BDNF_ENST00000420794.1_Silent_p.G161G|BDNF-AS_ENST00000499008.3_RNA|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000438929.1_Silent_p.G243G|BDNF_ENST00000395986.2_Silent_p.G176G|BDNF_ENST00000314915.6_Silent_p.G169G|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000395983.3_Silent_p.G161G|BDNF_ENST00000356660.4_Silent_p.G161G	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	161						extracellular region	growth factor activity	p.G169G(1)		breast(1)|large_intestine(3)|lung(2)	6						TGACCGTCCCGCCCGACATGT	0.532000													4	238					1	1	1	1	0
OR5T1	390155	broad.mit.edu	37	11	56043301	56043301	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:56043301G>T	ENST00000313033.2	+	1	273	c.187G>T	c.(187-189)Ggg>Tgg	p.G63W		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					ACCGATCATTGGGGATTTCTG	0.363000													23	74					1.50039e-11	1.81742e-11	1	1	0
SPATA31D1	389763	broad.mit.edu	37	9	84607717	84607717	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:84607717G>T	ENST00000344803.2	+	4	2379	c.2332G>T	c.(2332-2334)Gag>Tag	p.E778*		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		ATACAGCCAGGAGACTGTCCC	0.468000													28	156					6.07407e-21	8.25561e-21	1	1	0
PCDHA3	56145	broad.mit.edu	37	5	140182638	140182638	+	Missense_Mutation	SNP	G	G	A	rs146046778		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140182638G>A	ENST00000522353.2	+	1	1856	c.1856G>A	c.(1855-1857)cGc>cAc	p.R619H	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R619H|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1												p.R619H(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGTGCGCGCATCCCGTTT	0.672000													4	70					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80747126	80747126	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:80747126A>G	ENST00000458043.2	+	45	5408	c.5402A>G	c.(5401-5403)aAg>aGg	p.K1801R	OTOGL_ENST00000547103.1_Missense_Mutation_p.K1789R	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CCAGAGGGGAAGGAATATCAA	0.388000													13	15					0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38530704	38530704	+	Silent	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:38530704C>G	ENST00000356264.2	-	5	557	c.342G>C	c.(340-342)gtG>gtC	p.V114V	AMPH_ENST00000325590.5_Silent_p.V114V|AMPH_ENST00000428293.2_Silent_p.V114V	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	114	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AGGACCCATCCACGAGTTTTT	0.403000													140	211					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152640010	152640010	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:152640010T>A	ENST00000367255.5	-	85	16978	c.16377A>T	c.(16375-16377)aaA>aaT	p.K5459N	SYNE1_ENST00000341594.5_Missense_Mutation_p.K5132N|SYNE1_ENST00000265368.4_Missense_Mutation_p.K5459N|SYNE1_ENST00000448038.1_Missense_Mutation_p.K5388N|SYNE1_ENST00000423061.1_Missense_Mutation_p.K5388N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5459					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTGGTCAGTTTTAGCTTGAA	0.363000										HNSCC(10;0.0054)			10	50					0	0	1	0	0
KRTAP21-1	337977	broad.mit.edu	37	21	32127484	32127484	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr21:32127484G>T	ENST00000335093.3	-	1	262	c.213C>A	c.(211-213)tgC>tgA	p.C71*		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	71						intermediate filament				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						ATCTTCTAAAGCAAAATGGCC	0.468000													37	205					2.48696e-23	3.47814e-23	1	1	0
M1AP	130951	broad.mit.edu	37	2	74789507	74789507	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:74789507G>C	ENST00000290536.5	-	8	1234	c.1118C>G	c.(1117-1119)cCa>cGa	p.P373R	M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000409585.1_Missense_Mutation_p.P373R|M1AP_ENST00000358434.2_Intron|M1AP_ENST00000536235.1_Missense_Mutation_p.P373R	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		GCTGTGTCCTGGGCCCGGTGG	0.527000													32	88					0	0	1	0	0
ZNF623	9831	broad.mit.edu	37	8	144733535	144733535	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:144733535C>A	ENST00000501748.2	+	1	1582	c.1493C>A	c.(1492-1494)tCa>tAa	p.S498*	ZNF623_ENST00000526926.1_Nonsense_Mutation_p.S458*|ZNF623_ENST00000458270.2_Nonsense_Mutation_p.S458*	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GATTTTAACTCAACTACAAAC	0.413000													4	238					0.184627	0.186561	1	1	0
SF3B1	23451	broad.mit.edu	37	2	198263186	198263186	+	Splice_Site	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:198263186T>A	ENST00000335508.5	-	21	3224	c.3134_splice	c.e21+1	p.R1045_splice		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1045					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCTGCTTACCTGTCAGCAATA	0.338000			Mis		myelodysplastic syndrome								4	225					0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25780751	25780751	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:25780751G>A	ENST00000399878.3	-	16	2654	c.2532C>T	c.(2530-2532)taC>taT	p.Y844Y	SEL1L3_ENST00000264868.5_Silent_p.Y809Y|SEL1L3_ENST00000502949.1_Silent_p.Y691Y	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	844						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CTGTGATATAGTAGAGAGAAC	0.443000													24	114					0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35350638	35350638	+	Silent	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:35350638G>C	ENST00000373347.1	-	8	2209	c.1941C>G	c.(1939-1941)acC>acG	p.T647T	DLGAP3_ENST00000235180.4_Silent_p.T647T			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	647					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TCCTGTTCTCGGTGTCCGAAT	0.607000													33	68					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803545	185803545	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:185803545C>A	ENST00000302277.6	+	4	4016	c.3422C>A	c.(3421-3423)aCc>aAc	p.T1141N		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1141						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CTCACCAGAACCTCATTACCT	0.537000													79	75					9.42754e-34	1.38894e-33	1	1	0
PTH1R	5745	broad.mit.edu	37	3	46944837	46944837	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:46944837C>A	ENST00000313049.5	+	14	1676	c.1473C>A	c.(1471-1473)agC>agA	p.S491R	PTH1R_ENST00000430002.2_Missense_Mutation_p.S491R|PTH1R_ENST00000418619.1_Missense_Mutation_p.S491R|PTH1R_ENST00000449590.1_Missense_Mutation_p.S491R			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	491						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						GCAGCGGGAGCAGCAGCTATA	0.622000													24	23					7.4402e-23	1.03059e-22	1	1	0
NALCN	259232	broad.mit.edu	37	13	101844272	101844272	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:101844272G>T	ENST00000251127.6	-	14	1841	c.1760C>A	c.(1759-1761)aCt>aAt	p.T587N	NALCN_ENST00000376196.3_Missense_Mutation_p.T587N|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	587						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACTCACCAGAGTGGCAAAAAG	0.393000													19	18					1.55795e-14	1.97818e-14	1	1	0
LPAL2	80350	broad.mit.edu	37	6	160908402	160908402	+	RNA	SNP	G	G	A	rs112272783	by1000genomes	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:160908402G>A	ENST00000335388.5	-	0	570					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		TTTGGGATCCGTTGTATAACA	0.502000													17	56					0	0	1	0	0
ZDHHC16	84287	broad.mit.edu	37	10	99215802	99215802	+	Splice_Site	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:99215802G>C	ENST00000393760.1	+	11	1368		c.e11+1		ZDHHC16_ENST00000353979.3_Splice_Site|ZDHHC16_ENST00000370846.4_Splice_Site|ZDHHC16_ENST00000352634.4_Splice_Site|ZDHHC16_ENST00000370854.3_Splice_Site|ZDHHC16_ENST00000495735.1_Splice_Site|ZDHHC16_ENST00000345745.5_Splice_Site|ZDHHC16_ENST00000370842.2_Splice_Site	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16						apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		ATACAGGAAGGTAATGTAAGA	0.438000													14	58					0	0	1	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26032089	26032089	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:26032089G>C	ENST00000244661.2	-	1	199	c.200C>G	c.(199-201)cCg>cGg	p.P67R		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	67					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						GCGCTGGAACGGCAGCTTCCG	0.617000													12	138					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5463278	5463278	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:5463278C>A	ENST00000296564.7	+	13	4053	c.3831C>A	c.(3829-3831)tgC>tgA	p.C1277*		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1277										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CTGAAGATTGCAATGGTAAAG	0.368000													3	21					0.115264	0.117911	1	1	0
PITPNM2	57605	broad.mit.edu	37	12	123494588	123494588	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:123494588T>A	ENST00000280562.5	-	5	657	c.452A>T	c.(451-453)aAc>aTc	p.N151I	PITPNM2_ENST00000542749.1_Missense_Mutation_p.N151I|PITPNM2_ENST00000320201.4_Missense_Mutation_p.N151I|PITPNM2_ENST00000546049.1_Missense_Mutation_p.N151I|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000392428.1_Intron			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	151					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CTTATACTCGTTGTGGGGCAC	0.557000													91	197					0	0	1	0	0
TMEM55B	90809	broad.mit.edu	37	14	20928404	20928404	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:20928404A>T	ENST00000250489.4	-	3	673	c.387T>A	c.(385-387)tgT>tgA	p.C129*	TMEM55B_ENST00000398020.4_Nonsense_Mutation_p.C136*|TMEM55B_ENST00000554028.1_5'UTR			Q86T03	TM55B_HUMAN	transmembrane protein 55B	129						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		AGATAAGGAGACAGTTACAGG	0.493000													10	89					0	0	1	0	0
CXCR4	7852	broad.mit.edu	37	2	136872794	136872794	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:136872794C>G	ENST00000409817.1	-	1	1019	c.716G>C	c.(715-717)cGc>cCc	p.R239P	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000241393.3_Missense_Mutation_p.R235P	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	235					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	GAGGGCCTTGCGCTTCTGGTG	0.522000													100	173					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62049720	62049720	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:62049720G>A	ENST00000435607.1	-	2	460	c.384C>T	c.(382-384)ctC>ctT	p.L128L	SCN4A_ENST00000578147.1_Silent_p.L128L	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	128					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	ATGCATGGATGAGCACCTTGA	0.612000													6	29					0	0	1	0	0
HPSE2	60495	broad.mit.edu	37	10	100219421	100219421	+	Silent	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:100219421A>T	ENST00000370552.3	-	12	1748	c.1689T>A	c.(1687-1689)ctT>ctA	p.L563L	HPSE2_ENST00000370546.1_3'UTR|HPSE2_ENST00000404542.1_Silent_p.L451L|HPSE2_ENST00000370549.1_Silent_p.L505L	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	563					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GGCCGGCCCGAAGGGGGCGGG	0.557000													14	40					0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52650229	52650229	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:52650229A>T	ENST00000355568.4	-	19	1837	c.1698T>A	c.(1696-1698)agT>agA	p.S566R		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	566							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CTGGATTTTTACTTTCCTTTG	0.348000													24	42					0	0	1	0	0
SOX6	55553	broad.mit.edu	37	11	16071443	16071443	+	Silent	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:16071443G>C	ENST00000352083.6	-	11	1370	c.1293C>G	c.(1291-1293)ccC>ccG	p.P431P	SOX6_ENST00000316399.6_Silent_p.P431P|SOX6_ENST00000527619.1_Silent_p.P393P|SOX6_ENST00000396356.3_Silent_p.P431P|SOX6_ENST00000528252.1_Silent_p.P390P|SOX6_ENST00000528429.1_Silent_p.P431P			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	431					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CTGCTGTCTTGGGTCGGGATG	0.463000													156	299					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22397537	22397537	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:22397537T>G	ENST00000263160.3	+	10	1621	c.1184T>G	c.(1183-1185)aTg>aGg	p.M395R		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	395					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GGTTTTGGCATGGAAGCCACA	0.393000													52	90					0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93615516	93615516	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:93615516G>A	ENST00000394236.3	-	9	1185	c.869C>T	c.(868-870)cCc>cTc	p.P290L	PROS1_ENST00000407433.1_Missense_Mutation_p.P159L	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	290					leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	AAGGTTCAAGGGAAGGCACAC	0.368000													60	176					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767409	57767409	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr20:57767409C>A	ENST00000371030.2	+	1	1335	c.1335C>A	c.(1333-1335)ccC>ccA	p.P445P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	445						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGCCCACGCCCTACACCTACA	0.682000													15	71					7.93312e-07	8.7159e-07	1	1	0
BTN3A3	10384	broad.mit.edu	37	6	26451920	26451920	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:26451920C>A	ENST00000244519.2	+	11	1279	c.1036C>A	c.(1036-1038)Cca>Aca	p.P346T	BTN3A3_ENST00000339789.4_Missense_Mutation_p.P304T|BTN3A3_ENST00000361232.3_Missense_Mutation_p.P297T	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	346	B30.2/SPRY.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GATTCTGGATCCAGACACGGC	0.552000													24	43					2.89027e-11	3.46473e-11	1	1	0
SERBP1	26135	broad.mit.edu	37	1	67891881	67891881	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:67891881C>A	ENST00000370994.4	-	2	515	c.401G>T	c.(400-402)cGt>cTt	p.R134L	SERBP1_ENST00000370990.5_Missense_Mutation_p.R134L|SERBP1_ENST00000370995.2_Missense_Mutation_p.R134L|SERBP1_ENST00000361219.6_Missense_Mutation_p.R134L	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	134					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						TCTTCGTTCACGAGGTGGTCG	0.423000													114	282					9.6197e-41	1.46574e-40	1	1	0
SEC61A1	29927	broad.mit.edu	37	3	127783719	127783719	+	Splice_Site	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:127783719G>A	ENST00000243253.3	+	8	800		c.e8-1		RUVBL1_ENST00000464873.1_3'UTR|SEC61A1_ENST00000424880.2_Splice_Site|SEC61A1_ENST00000464451.1_Splice_Site	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)						protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						TCTGCCAACAGGAATGGAATT	0.468000													36	67					0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148427468	148427468	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:148427468C>G	ENST00000515425.1	-	3	337	c.236G>C	c.(235-237)tGg>tCg	p.W79S	SH3TC2_ENST00000512049.1_Missense_Mutation_p.W79S|SH3TC2_ENST00000394358.2_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	79							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCAGTGCCCAGAGCCGCCT	0.527000													40	139					0	0	1	0	0
TRBJ2-1	28629	broad.mit.edu	37	7	142494075	142494075	+	RNA	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:142494075C>A	ENST00000390412.1	+	0	27																											TTCTTCGGGCCAGGGACACGG	0.602000													5	8					0.0293803	0.0302691	1	1	0
SOX9	6662	broad.mit.edu	37	17	70120399	70120399	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:70120399C>A	ENST00000245479.2	+	3	1773	c.1401C>A	c.(1399-1401)acC>acA	p.T467T		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	467					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CCACCTTCACCTACATGAACC	0.642000													29	135					0.000184323	0.000197636	1	1	0
EYA4	2070	broad.mit.edu	37	6	133769305	133769305	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:133769305T>A	ENST00000367895.5	+	5	729	c.265T>A	c.(265-267)Tct>Act	p.S89T	EYA4_ENST00000531901.1_Missense_Mutation_p.S89T|EYA4_ENST00000525849.1_Intron|EYA4_ENST00000452339.2_Intron|EYA4_ENST00000430974.2_Intron|EYA4_ENST00000355286.6_Intron|EYA4_ENST00000431403.2_Missense_Mutation_p.S89T|EYA4_ENST00000355167.3_Missense_Mutation_p.S89T	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	89					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CAACACCCCCTCTTCTGCAAC	0.453000													21	48					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62049989	62049989	+	Silent	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:62049989G>T	ENST00000435607.1	-	1	289	c.213C>A	c.(211-213)ccC>ccA	p.P71P	SCN4A_ENST00000578147.1_Silent_p.P71P	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	71					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CCTCCGGCGGGGGGTCTCCGT	0.592000													3	15					6.4e-05	6.87647e-05	1	1	0
OR10H1	26539	broad.mit.edu	37	19	15918353	15918353	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:15918353G>A	ENST00000334920.2	-	1	583	c.495C>T	c.(493-495)caC>caT	p.H165H		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						AGAAGGCGAGGTGGAAAATGG	0.607000													50	73					0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64197182	64197182	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr18:64197182G>C	ENST00000262150.2	-	9	1650	c.1358C>G	c.(1357-1359)tCg>tGg	p.S453W	CDH19_ENST00000540086.1_Missense_Mutation_p.S453W	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	453	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CAGTGGGATCGAAGAGATCTG	0.313000													66	53					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181727125	181727125	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:181727125C>T	ENST00000526775.1	+	30	4480	c.4315C>T	c.(4315-4317)Cgc>Tgc	p.R1439C	CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1458C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1439C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1458C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1065C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1390C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1409C	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1458					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACCTCTCACCCGCTACATGCC	0.517000													30	135					0	0	1	0	0
XXbac-BPG308J9.3	0	broad.mit.edu	37	6	29231808	29231808	+	RNA	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:29231808C>A	ENST00000441381.1	+	0	279																											TGAGGCTTCCCAGGGAACCCA	0.383000													55	66					1.38909e-20	1.88357e-20	1	1	0
NFASC	23114	broad.mit.edu	37	1	204923419	204923419	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:204923419G>T	ENST00000367172.4	+	6	647	c.319G>T	c.(319-321)Ggg>Tgg	p.G107W	NFASC_ENST00000367170.4_Missense_Mutation_p.G107W|NFASC_ENST00000513543.1_Missense_Mutation_p.G101W|NFASC_ENST00000339876.6_Missense_Mutation_p.G107W|NFASC_ENST00000360049.4_Missense_Mutation_p.G101W|NFASC_ENST00000338515.6_Missense_Mutation_p.G107W|NFASC_ENST00000403080.1_Missense_Mutation_p.G107W|NFASC_ENST00000338586.6_Missense_Mutation_p.G107W|NFASC_ENST00000401399.1_Missense_Mutation_p.G107W|NFASC_ENST00000367171.4_Missense_Mutation_p.G107W|NFASC_ENST00000404076.1_Missense_Mutation_p.G101W|NFASC_ENST00000367169.4_Missense_Mutation_p.G107W|NFASC_ENST00000539706.1_Missense_Mutation_p.G101W|NFASC_ENST00000404907.1_Missense_Mutation_p.G101W			O94856	NFASC_HUMAN	neurofascin	107	Ig-like C2-type 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCGCAGTGGCGGGCGGCCGGA	0.582000													18	60					1.96895e-08	2.25301e-08	1	1	0
PXDN	7837	broad.mit.edu	37	2	1677464	1677464	+	Silent	SNP	G	G	A	rs61746899	by1000genomes	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:1677464G>A	ENST00000252804.4	-	9	1019	c.969C>T	c.(967-969)gcC>gcT	p.A323A	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	323	Ig-like C2-type 1.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCACCTCTCCGGCCACGTTCT	0.562000													59	263					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45779421	45779421	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr22:45779421T>C	ENST00000357450.4	-	12	1983	c.1984A>G	c.(1984-1986)Aag>Gag	p.K662E	SMC1B_ENST00000404354.3_Missense_Mutation_p.K662E	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	662	Flexible hinge.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CATCTAGCCTTGTATTTTAAG	0.363000													67	108					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153149797	153149797	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:153149797C>T	ENST00000285900.5	+	13	2435	c.2092C>T	c.(2092-2094)Cgg>Tgg	p.R698W	GRIA1_ENST00000518783.1_Missense_Mutation_p.R708W|GRIA1_ENST00000518142.1_Missense_Mutation_p.R618W|GRIA1_ENST00000340592.5_Missense_Mutation_p.R698W|GRIA1_ENST00000521843.2_Missense_Mutation_p.R629W|GRIA1_ENST00000448073.4_Missense_Mutation_p.R708W	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	698					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	p.R698W(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGTTTTTGTGCGGACCACAGA	0.463000													4	103					0	0	1	0	0
CYP2C18	1562	broad.mit.edu	37	10	96495160	96495160	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:96495160C>A	ENST00000285979.6	+	9	1631	c.1432C>A	c.(1432-1434)Cgt>Agt	p.R478S	CYP2C19_ENST00000464755.1_Intron|CYP2C18_ENST00000339022.5_Missense_Mutation_p.R419S	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TGCATTTGGTCGTGTGCCACC	0.478000													41	155					1.32136e-16	1.71925e-16	1	1	0
C7	730	broad.mit.edu	37	5	40931225	40931225	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:40931225G>A	ENST00000313164.9	+	3	481	c.122G>A	c.(121-123)gGc>gAc	p.G41D		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	41	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GAATGCAATGGCTGTACCAAG	0.423000													25	54					0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21831310	21831310	+	Splice_Site	SNP	T	T	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:21831310T>G	ENST00000216297.2	-	13	1734		c.e13-2			NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)						DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CATTTCATTCTGGTGAATGGA	0.388000													39	163					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222700357	222700357	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:222700357C>A	ENST00000343410.6	-	7	1817	c.1759G>T	c.(1759-1761)Gcc>Tcc	p.A587S		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	587					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GGTGCATAGGCACTTGGGTAA	0.433000													19	37					3.62473e-10	4.29186e-10	1	1	0
OR6F1	343169	broad.mit.edu	37	1	247875544	247875544	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:247875544G>C	ENST00000302084.2	-	1	561	c.514C>G	c.(514-516)Cgt>Ggt	p.R172G	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TTGATGGCACGGGGGCCACAG	0.597000													49	146					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108051315	108051315	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:108051315T>A	ENST00000280758.5	+	17	3663	c.3135T>A	c.(3133-3135)taT>taA	p.Y1045*	BTBD11_ENST00000494235.2_Nonsense_Mutation_p.Y124*|BTBD11_ENST00000357167.4_Nonsense_Mutation_p.Y582*|BTBD11_ENST00000420571.2_Nonsense_Mutation_p.Y926*	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1045						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCTCAGCATATTGCGAAGGCT	0.463000													33	66					0	0	1	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90535265	90535265	+	RNA	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:90535265G>A	ENST00000602681.1	+	0	1169																											GGAGCCTCCCGGTCCTCTCAT	0.587000													179	143					0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169546666	169546666	+	Silent	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:169546666G>T	ENST00000340806.6	+	2	1140	c.1140G>T	c.(1138-1140)ggG>ggT	p.G380G		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	380										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TATACATTGGGCAAGACCAGG	0.438000													36	167					9.45814e-24	1.33242e-23	1	1	0
ERBB4	2066	broad.mit.edu	37	2	212488770	212488770	+	Splice_Site	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:212488770C>A	ENST00000342788.4	-	18	2390		c.e18-1		ERBB4_ENST00000436443.1_Splice_Site|ERBB4_ENST00000402597.1_Splice_Site	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4						cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GTTCCACCAACTGCAAAGCGG	0.448000										TSP Lung(8;0.080)			47	39					1.83081e-24	2.59178e-24	1	1	0
EFCAB13	124989	broad.mit.edu	37	17	45419337	45419337	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:45419337C>T	ENST00000331493.2	+	6	653	c.242C>T	c.(241-243)tCa>tTa	p.S81L	ITGB3_ENST00000435993.2_3'UTR|EFCAB13_ENST00000517484.1_Missense_Mutation_p.S81L|ITGB3_ENST00000560629.1_3'UTR|EFCAB13_ENST00000520802.1_3'UTR	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		TCTGATTTTTCAGGAGAAAAA	0.289000													15	41					0	0	1	0	0
MYOT	9499	broad.mit.edu	37	5	137206561	137206561	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:137206561A>T	ENST00000239926.4	+	2	595	c.221A>T	c.(220-222)aAg>aTg	p.K74M	MYOT_ENST00000421631.2_Intron|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Intron|MYOT_ENST00000509812.1_Intron	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	myotilin	74			K -> Q (in dbSNP:rs41431944).		muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCTTCTCCCAAGCAGCATGCT	0.532000													32	80					0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113323815	113323815	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:113323815T>A	ENST00000264852.4	+	14	2122	c.1396T>A	c.(1396-1398)Tat>Aat	p.Y466N	SIDT1_ENST00000393830.3_Missense_Mutation_p.Y466N|SIDT1_ENST00000463226.1_3'UTR	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	466						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						GGTCATTACCTATCAGACAGT	0.498000													35	103					0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93106955	93106955	+	Silent	SNP	A	A	G	rs139631014	byFrequency	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:93106955A>G	ENST00000359558.2	-	6	584	c.285T>C	c.(283-285)gaT>gaC	p.D95D	CALCR_ENST00000421592.1_Silent_p.D77D|CALCR_ENST00000394441.1_Silent_p.D77D|CALCR_ENST00000360249.4_Silent_p.D77D|CALCR_ENST00000426151.1_Silent_p.D77D	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	77					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	ACAGCCATCCATCCCAGGTGC	0.428000													29	63					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519481	113519481	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:113519481C>T	ENST00000284601.3	-	4	1734	c.1666G>A	c.(1666-1668)Gga>Aga	p.G556R		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	556					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTACTAGCTCCAATCCCTGCC	0.418000													64	136					0	0	1	0	0
SIX5	147912	broad.mit.edu	37	19	46268861	46268861	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:46268861C>A	ENST00000317578.6	-	3	2499	c.2118G>T	c.(2116-2118)ctG>ctT	p.L706L	AC074212.5_ENST00000559756.1_RNA|SIX5_ENST00000560168.1_3'UTR	NM_175875.4	NP_787071.2	Q8N196	SIX5_HUMAN	SIX homeobox 5	706						cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		CGGTGGCCCCCAGGAGCAGCC	0.672000													67	109					9.07738e-34	1.34077e-33	1	1	0
PCGF3	10336	broad.mit.edu	37	4	737282	737282	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:737282G>C	ENST00000362003.5	+	7	678	c.283G>C	c.(283-285)Gag>Cag	p.E95Q	PCGF3_ENST00000470161.2_Missense_Mutation_p.E95Q|PCGF3_ENST00000521023.2_Missense_Mutation_p.E61Q|PCGF3_ENST00000505655.2_Missense_Mutation_p.E95Q	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						AAAGCAGAGGGAGTTCTATCA	0.468000													8	38					0	0	1	0	0
OR14I1	401994	broad.mit.edu	37	1	248844884	248844884	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:248844884G>A	ENST00000342623.3	-	1	745	c.722C>T	c.(721-723)cCc>cTc	p.P241L		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						AATGAGCTGGGGGGAGCAGGT	0.468000													47	124					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130285860	130285860	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:130285860C>A	ENST00000358511.6	+	4	1628	c.1597C>A	c.(1597-1599)Cga>Aga	p.R533R	COL6A6_ENST00000453409.2_Silent_p.R533R	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	533	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AAAGAAGCAGCGAGGAAACAA	0.483000													38	112					6.53348e-20	8.83851e-20	1	1	0
MAEL	84944	broad.mit.edu	37	1	166974632	166974632	+	Silent	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:166974632A>T	ENST00000367872.4	+	8	1087	c.843A>T	c.(841-843)acA>acT	p.T281T	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Silent_p.T250T	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	281					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CTAGCAACACAAGGTATTGCT	0.373000													45	92					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108389039	108389039	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:108389039G>T	ENST00000263054.6	-	19	2590	c.2583C>A	c.(2581-2583)aaC>aaA	p.N861K	SORCS1_ENST00000344440.6_Missense_Mutation_p.N861K|SORCS1_ENST00000369698.1_Missense_Mutation_p.N396K	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	861	PKD.					integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AAATGCCCACGTTCTGATAGA	0.493000													28	30					2.48779e-11	2.98845e-11	1	1	0
NBEA	26960	broad.mit.edu	37	13	35733576	35733576	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:35733576G>C	ENST00000540320.1	+	22	3802	c.3268G>C	c.(3268-3270)Gtg>Ctg	p.V1090L	NBEA_ENST00000310336.4_Missense_Mutation_p.V1090L|NBEA_ENST00000379939.2_Missense_Mutation_p.V1090L|NBEA_ENST00000400445.3_Missense_Mutation_p.V1090L			Q8NFP9	NBEA_HUMAN	neurobeachin	1090						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGGTGCCCTTGTGGAGGTTGA	0.383000													11	41					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90073745	90073745	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:90073745T>C	ENST00000405460.2	+	62	12647	c.12551T>C	c.(12550-12552)tTg>tCg	p.L4184S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4184					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCAGGGATTTTGGGGGAGGTC	0.423000													13	43					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113540786	113540786	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:113540786C>A	ENST00000505019.1	-	6	537	c.412G>T	c.(412-414)Gct>Tct	p.A138S	C4orf21_ENST00000309071.5_Missense_Mutation_p.A138S|C4orf21_ENST00000445203.2_Missense_Mutation_p.A107S	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	138										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TGTGATGCAGCTGATTCACCA	0.388000													37	105					4.17593e-13	5.22217e-13	1	1	0
PCDHA5	56143	broad.mit.edu	37	5	140203530	140203530	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140203530G>T	ENST00000529859.1	+	1	2170	c.2170G>T	c.(2170-2172)Gcg>Tcg	p.A724S	PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A724S|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A724S|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGTGCTCGGCGCAGCCCAC	0.657000													24	52					4.7796e-09	5.54587e-09	1	1	0
IL12B	3593	broad.mit.edu	37	5	158750296	158750296	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:158750296C>A	ENST00000231228.2	-	3	585	c.130G>T	c.(130-132)Gaa>Taa	p.E44*		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	44	Ig-like C2-type.				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCACCATTTCTCCAGGGGCA	0.512000													13	35					1.5842e-08	1.81634e-08	1	1	0
DYNC1H1	1778	broad.mit.edu	37	14	102453804	102453804	+	Silent	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:102453804G>T	ENST00000360184.4	+	9	2717	c.2553G>T	c.(2551-2553)ctG>ctT	p.L851L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	851	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATGATCTGCTGATCATTGAAG	0.353000													21	61					7.45023e-12	9.10059e-12	1	1	0
LPCAT1	79888	broad.mit.edu	37	5	1474683	1474683	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:1474683C>A	ENST00000283415.3	-	10	1149	c.1017G>T	c.(1015-1017)cgG>cgT	p.R339R		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	339					phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	p.R339R(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		ACCCGAGGCCCCGCACGAGCC	0.612000													24	24					9.86323e-18	1.30384e-17	1	1	0
SHANK2	22941	broad.mit.edu	37	11	70505947	70505947	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:70505947C>A	ENST00000338508.4	-	23	2049	c.2050G>T	c.(2050-2052)Gac>Tac	p.D684Y	SHANK2_ENST00000409530.1_Missense_Mutation_p.D94Y|SHANK2_ENST00000409161.1_Missense_Mutation_p.D94Y|SHANK2_ENST00000449833.2_Missense_Mutation_p.D95Y|SHANK2_ENST00000357171.3_Missense_Mutation_p.D95Y|SHANK2_ENST00000449116.2_Missense_Mutation_p.D95Y|SHANK2_ENST00000423696.2_Missense_Mutation_p.D304Y			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	304					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ATCAAGAAGTCCCCGGTCCTT	0.587000													8	35					7.48243e-07	8.2678e-07	1	1	0
KEAP1	9817	broad.mit.edu	37	19	10610576	10610576	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:10610576G>T	ENST00000171111.5	-	2	681	c.134C>A	c.(133-135)tCc>tAc	p.S45Y	KEAP1_ENST00000393623.2_Missense_Mutation_p.S45Y	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GCCATGCTGGGAGGGCGTCAC	0.637000													39	168					7.05121e-23	9.79053e-23	1	1	0
ADCY2	108	broad.mit.edu	37	5	7727344	7727344	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:7727344T>A	ENST00000338316.4	+	14	1930	c.1841T>A	c.(1840-1842)aTc>aAc	p.I614N	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.I434N	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	614					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTCTTCTGCATCTTCATTGTG	0.493000													67	80					0	0	1	0	0
PGM5	5239	broad.mit.edu	37	9	71094402	71094402	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:71094402C>T	ENST00000396396.1	+	8	1457	c.1228C>T	c.(1228-1230)Cgg>Tgg	p.R410W		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	410					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TATTGCTGCCCGGAAGCAGAG	0.527000													43	250					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64967944	64967944	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:64967944T>A	ENST00000399262.2	-	10	3703	c.3485A>T	c.(3484-3486)aAg>aTg	p.K1162M	JMJD1C_ENST00000399251.1_Missense_Mutation_p.K943M|JMJD1C_ENST00000542921.1_Missense_Mutation_p.K980M|JMJD1C_ENST00000402544.1_Missense_Mutation_p.K943M	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1162					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTCTGGTATCTTGCCTACTAA	0.393000													83	147					0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011320	105011320	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:105011320G>T	ENST00000372582.1	+	11	2483	c.1727G>T	c.(1726-1728)gGa>gTa	p.G576V	IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.G181V|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.G576V	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	576					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCAGAACAAGGACTTTTTGGA	0.438000													29	38					7.38237e-10	8.68779e-10	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103488414	103488414	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:103488414C>A	ENST00000358392.2	-	8	1482	c.1165G>T	c.(1165-1167)Gat>Tat	p.D389Y	COL11A1_ENST00000370096.3_Missense_Mutation_p.D377Y|COL11A1_ENST00000353414.4_Missense_Mutation_p.D338Y|COL11A1_ENST00000512756.1_Intron	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	377	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCGCCTAAATCTCCATCTACC	0.378000													28	139					4.87955e-14	6.15525e-14	1	1	0
C1orf87	127795	broad.mit.edu	37	1	60463339	60463339	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:60463339C>G	ENST00000371201.3	-	11	1529	c.1422G>C	c.(1420-1422)tgG>tgC	p.W474C	C1orf87_ENST00000395552.1_Missense_Mutation_p.W108C|C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000450089.2_Missense_Mutation_p.W245C	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	474							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						ACCTGTCTATCCACGTCTCAC	0.468000													39	91					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134031938	134031938	+	Missense_Mutation	SNP	G	G	A	rs114404536	by1000genomes	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:134031938G>A	ENST00000220616.4	+	39	6914	c.6874G>A	c.(6874-6876)Gtg>Atg	p.V2292M	TG_ENST00000519543.1_Missense_Mutation_p.V425M|TG_ENST00000377869.1_Missense_Mutation_p.V2235M|TG_ENST00000542445.1_Missense_Mutation_p.V662M	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2292					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCCTCAGAATGTGGTGAGTTC	0.512000													14	96					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103381240	103381240	+	Splice_Site	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:103381240C>A	ENST00000358392.2	-	50	4116	c.3798_splice	c.e50-1	p.G1267_splice	COL11A1_ENST00000370096.3_Splice_Site_p.G1255_splice|COL11A1_ENST00000353414.4_Splice_Site_p.G1216_splice|COL11A1_ENST00000512756.1_Splice_Site_p.G1139_splice	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1255	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCAGGTTCACCCTATATAGAG	0.353000													70	114					1.70537e-16	2.21392e-16	1	1	0
SPEN	23013	broad.mit.edu	37	1	16255029	16255029	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:16255029G>A	ENST00000375759.3	+	11	2498	c.2294G>A	c.(2293-2295)aGc>aAc	p.S765N		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	765	Arg-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CGGAGTGGAAGCTGTAGCTCA	0.498000													21	93					0	0	1	0	0
KLHL32	114792	broad.mit.edu	37	6	97562024	97562024	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:97562024C>A	ENST00000369261.4	+	7	1356	c.993C>A	c.(991-993)ccC>ccA	p.P331P	KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000539200.1_Silent_p.P262P|KLHL32_ENST00000536676.1_Silent_p.P295P	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	331				P -> S (in Ref. 1; BAB70899).						breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		AGCTGGCTCCCATGCCTGTGG	0.567000													23	89					1.66031e-10	1.97396e-10	1	1	0
RP1L1	94137	broad.mit.edu	37	8	10465328	10465328	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:10465328C>T	ENST00000382483.3	-	4	6503	c.6280G>A	c.(6280-6282)Gcc>Acc	p.A2094T		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2094					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCTGGCTGGGCCTCCCCTTCT	0.627000													171	177					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83335614	83335614	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:83335614C>A	ENST00000261722.3	-	15	1944	c.1737G>T	c.(1735-1737)gcG>gcT	p.A579A	AP3B2_ENST00000535359.1_Silent_p.A579A|AP3B2_ENST00000535348.1_Silent_p.A547A|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	579					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGGTGAAGCGCGCCCGGTCGC	0.597000													28	92					1.04121e-07	1.18208e-07	1	1	0
PI4K2B	55300	broad.mit.edu	37	4	25256888	25256888	+	Splice_Site	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:25256888G>A	ENST00000264864.6	+	3	813		c.e3+1		PI4K2B_ENST00000512921.1_Splice_Site	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta							cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				TAAAACAAAGGTAAGCCAGAC	0.403000													29	107					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112469437	112469437	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:112469437G>T	ENST00000230538.7	-	18	2672	c.2275C>A	c.(2275-2277)Cta>Ata	p.L759I	LAMA4_ENST00000424408.2_Missense_Mutation_p.L752I|LAMA4_ENST00000522006.1_Missense_Mutation_p.L752I|LAMA4_ENST00000389463.4_Missense_Mutation_p.L752I	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	759	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CAGTTGGTTAGATTGTTGGCC	0.517000													27	108					4.7796e-09	5.54587e-09	1	1	0
LAMA1	284217	broad.mit.edu	37	18	6956666	6956666	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr18:6956666C>A	ENST00000389658.3	-	56	8156	c.8063G>T	c.(8062-8064)aGc>aTc	p.S2688I	RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2688					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)	CAAGAGCTTGCTGTCCTCTGC	0.552000													23	170					1.22574e-08	1.41094e-08	1	1	0
PARP10	84875	broad.mit.edu	37	8	145058522	145058522	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:145058522C>A	ENST00000313028.7	-	6	1630	c.1536G>T	c.(1534-1536)gtG>gtT	p.V512V	PARP10_ENST00000524918.1_Silent_p.V512V|PARP10_ENST00000525773.1_Silent_p.V524V	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	512						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGGCACAACACATGGCAGC	0.637000													30	88					2.61193e-14	3.30921e-14	1	1	0
LCA5	167691	broad.mit.edu	37	6	80201313	80201313	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:80201313G>A	ENST00000392959.1	-	7	1701	c.1090C>T	c.(1090-1092)Ctt>Ttt	p.L364F	LCA5_ENST00000467898.2_Missense_Mutation_p.L364F|LCA5_ENST00000369846.4_Missense_Mutation_p.L364F	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	364					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		ACCAAAGTAAGATGTCCTGGT	0.343000													40	197					0	0	1	0	0
FMN1	342184	broad.mit.edu	37	15	33261044	33261044	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:33261044G>T	ENST00000334528.9	-	4	2188	c.2189C>A	c.(2188-2190)cCc>cAc	p.P730H	FMN1_ENST00000561249.1_Missense_Mutation_p.P855H|FMN1_ENST00000559047.1_Missense_Mutation_p.P953H	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	953	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GGGAGGTGGGGGTGCAAGTCC	0.612000													26	56					4.26978e-12	5.22664e-12	1	1	0
RECQL4	9401	broad.mit.edu	37	8	145738813	145738813	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:145738813C>A	ENST00000428558.2	-	14	2293	c.2252G>T	c.(2251-2253)cGg>cTg	p.R751L	CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	751	Helicase C-terminal.				DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCGCCGTTCCCGGCTGCACAT	0.672000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				16	30					4.96729e-08	5.65041e-08	1	1	0
ADAMTS7	11173	broad.mit.edu	37	15	79056076	79056076	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:79056076G>T	ENST00000388820.4	-	22	4915	c.4705C>A	c.(4705-4707)Ccc>Acc	p.P1569T		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1569	TSP type-1 8.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGCGTGCAGGGGTGGGTGTTG	0.701000													3	45					1	1	1	1	0
REG1P	5969	broad.mit.edu	37	2	79363286	79363286	+	RNA	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:79363286G>T	ENST00000444841.1	-	0	1052																											CTCAGAAACAGGTCAAGACAT	0.433000													5	11					0.000602214	0.000637444	1	1	0
SPRY3	10251	broad.mit.edu	37	X	155004162	155004162	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:155004162C>T	ENST00000302805.2	+	2	1060	c.629C>T	c.(628-630)cCc>cTc	p.P210L		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	210	Cys-rich.|SPR.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCTGATGAGCCCTGCTCTTGT	0.562000													90	198					0	0	1	0	0
SLC25A41	284427	broad.mit.edu	37	19	6430127	6430127	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:6430127G>C	ENST00000321510.6	-	3	477	c.409C>G	c.(409-411)Cag>Gag	p.Q137E		NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	137					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						ACCATGCTCTGTAGCCCCCCC	0.617000													15	16					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23522816	23522816	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:23522816C>G	ENST00000296682.3	+	8	886	c.704C>G	c.(703-705)cCc>cGc	p.P235R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	235					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						AAGGGGCACCCCAACCGTTCA	0.562000										HNSCC(3;0.000094)			30	55					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6707204	6707204	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:6707204G>C	ENST00000245907.6	-	17	2220	c.2128C>G	c.(2128-2130)Cgg>Ggg	p.R710G		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	710	Anaphylatoxin-like.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AAACGGGTCCGGCGCTGGCAC	0.657000													13	53					0	0	1	0	0
IL12RB2	3595	broad.mit.edu	37	1	67861485	67861485	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:67861485A>G	ENST00000262345.1	+	16	2942	c.2302A>G	c.(2302-2304)Aag>Gag	p.K768E	IL12RB2_ENST00000371000.1_3'UTR|IL12RB2_ENST00000541374.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.K682E	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	768					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						GGATCTGTACAAGGTGCTGGA	0.582000													39	123					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20769239	20769239	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:20769239G>T	ENST00000359062.3	+	4	1385	c.1345G>T	c.(1345-1347)Ggt>Tgt	p.G449C	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	449					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CTCGGCCACAGGTCTACCCAC	0.562000													73	102					5.02462e-34	7.44055e-34	1	1	0
OR2T4	127074	broad.mit.edu	37	1	248525300	248525300	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:248525300G>T	ENST00000366475.1	+	1	418	c.418G>T	c.(418-420)Gca>Tca	p.A140S		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CGTGACACTAGCAGGTTCAGA	0.522000													53	277					4.44712e-29	6.38929e-29	1	1	0
DST	667	broad.mit.edu	37	6	56496758	56496758	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:56496758G>A	ENST00000370754.5	-	28	3786	c.3787C>T	c.(3787-3789)Cgg>Tgg	p.R1263W	DST_ENST00000370788.2_Missense_Mutation_p.R1085W|DST_ENST00000312431.6_Missense_Mutation_p.R1085W|DST_ENST00000370769.4_Missense_Mutation_p.R1085W|DST_ENST00000518935.1_Missense_Mutation_p.R759W|DST_ENST00000421834.2_Missense_Mutation_p.R1085W|DST_ENST00000244364.6_Missense_Mutation_p.R759W|DST_ENST00000361203.3_Missense_Mutation_p.R1085W|DST_ENST00000446842.2_Missense_Mutation_p.R759W|DST_ENST00000370765.6_Missense_Mutation_p.R759W			Q03001	DYST_HUMAN	dystonin	1085					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTAATCAGCCGATCTTCACAG	0.388000													35	103					0	0	1	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140768224	140768224	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140768224G>T	ENST00000519479.1	+	1	773	c.773G>T	c.(772-774)gGg>gTg	p.G258V	PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTACCCGGGGACCACGGTG	0.498000													44	150					1.30475e-32	1.91253e-32	1	1	0
SLITRK4	139065	broad.mit.edu	37	X	142717166	142717166	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:142717166G>T	ENST00000381779.4	-	2	1984	c.1759C>A	c.(1759-1761)Ccg>Acg	p.P587T	SLITRK4_ENST00000338017.4_Missense_Mutation_p.P587T|SLITRK4_ENST00000356928.1_Missense_Mutation_p.P587T	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	587						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGCAGACGGCTTATTTAAA	0.453000													37	47					2.09667e-21	2.86314e-21	1	1	0
REG1A	5967	broad.mit.edu	37	2	79349177	79349177	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:79349177T>A	ENST00000233735.1	+	4	350	c.247T>A	c.(247-249)Ttt>Att	p.F83I		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	83	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CGAGGGTGCCTTTGTGGCCTC	0.522000													29	111					0	0	1	0	0
FBXO7	25793	broad.mit.edu	37	22	32889195	32889195	+	Silent	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr22:32889195G>C	ENST00000266087.7	+	7	1398	c.1071G>C	c.(1069-1071)gcG>gcC	p.A357A	FBXO7_ENST00000397426.1_Silent_p.A243A|FBXO7_ENST00000382058.3_Silent_p.A278A	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	357	F-box.				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTTGTCTGCGGTTTGTCGTG	0.448000													89	187					0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	404053	404053	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:404053G>A	ENST00000331563.2	+	11	2264	c.2188G>A	c.(2188-2190)Gtg>Atg	p.V730M		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	730				V -> G (in Ref. 3; BAD97231).	cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAACCTGGTGGTGGCCAGCCC	0.612000													35	128					0	0	1	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140723908	140723908	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140723908T>A	ENST00000253812.6	+	1	308	c.308T>A	c.(307-309)cTg>cAg	p.L103Q	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCTGTGTCTGGTAAAAATT	0.433000													19	49					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577046	7577046	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:7577046C>A	ENST00000420246.2	-	8	1024	c.892G>T	c.(892-894)Gag>Tag	p.E298*	TP53_ENST00000269305.4_Nonsense_Mutation_p.E298*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	298	Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> 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.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(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)		GGGGGCAGCTCGTGGTGAGGC	0.567000		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)			97	62					2.28585e-32	3.34219e-32	1	1	0
NUPL1	9818	broad.mit.edu	37	13	25901160	25901160	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:25901160A>G	ENST00000463407.1	+	11	1281	c.1138A>G	c.(1138-1140)Ata>Gta	p.I380V	NUPL1_ENST00000381736.3_Missense_Mutation_p.I380V|NUPL1_ENST00000381718.3_Missense_Mutation_p.I368V|NUPL1_ENST00000466694.1_3'UTR			Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	380	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		TAATTCACATATAACCCCTCA	0.363000													35	126					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496746	20496746	+	RNA	SNP	T	T	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:20496746T>G	ENST00000555186.1	+	0	799					NR_038836.1																						CTTTCTTTTCTTTGAGTCTGT	0.378000													5	32					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47870817	47870817	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:47870817G>C	ENST00000289672.2	-	42	6521	c.6471C>G	c.(6469-6471)taC>taG	p.Y2157*		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2157					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CAGCTCACCTGTAGGCTAGAA	0.507000													58	84					0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172357712	172357712	+	Splice_Site	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:172357712G>T	ENST00000358155.4	+	20	2461		c.e20-1		DNM3_ENST00000355305.5_Splice_Site|DNM3_ENST00000367731.1_Splice_Site	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3						endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TTTTTCCTCAGGTCACCTCCT	0.458000													20	52					1.56452e-12	1.93147e-12	1	1	0
SLC24A4	123041	broad.mit.edu	37	14	92958081	92958081	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:92958081C>A	ENST00000532405.1	+	15	1836	c.1610C>A	c.(1609-1611)cCg>cAg	p.P537Q	SLC24A4_ENST00000393265.2_Missense_Mutation_p.P473Q|SLC24A4_ENST00000531433.1_Missense_Mutation_p.P518Q|SLC24A4_ENST00000351924.5_Missense_Mutation_p.P501Q|SLC24A4_ENST00000298877.1_Missense_Mutation_p.P520Q			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	537						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CTTGGTGTACCGTGGGGCCTG	0.483000													34	93					6.70999e-13	8.33708e-13	1	1	0
USP29	57663	broad.mit.edu	37	19	57642105	57642105	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:57642105C>A	ENST00000254181.4	+	4	2516	c.2062C>A	c.(2062-2064)Cat>Aat	p.H688N	USP29_ENST00000598197.1_Missense_Mutation_p.H688N	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	688					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGTGCCTCAACATCCAGAACT	0.433000													15	58					7.93312e-07	8.7159e-07	1	1	0
TAP2	6891	broad.mit.edu	37	6	32805816	32805816	+	Silent	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:32805816C>G	ENST00000374897.2	-	2	326	c.195G>C	c.(193-195)ctG>ctC	p.L65L	TAP2_ENST00000374899.4_Silent_p.L65L|TAP2_ENST00000452392.2_Silent_p.L65L	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	65					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										GCGGGAGCAGCAGTGTCCCCA	0.672000													24	98					0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155236610	155236610	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:155236610T>A	ENST00000368361.4	-	7	1063	c.748A>T	c.(748-750)Acc>Tcc	p.T250S	CLK2_ENST00000361168.5_Missense_Mutation_p.T249S|CLK2_ENST00000355560.4_Missense_Mutation_p.T248S|CLK2_ENST00000536801.1_Missense_Mutation_p.T250S|CLK2_ENST00000497188.1_5'UTR			P49760	CLK2_HUMAN	CDC-like kinase 2	250	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AAATCGAAGGTGCTAAGGCCC	0.542000								Other conserved DNA damage response genes					37	70					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113599296	113599296	+	Splice_Site	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:113599296T>A	ENST00000297405.5	-	23	4128	c.3885_splice	c.e23+1	p.K1295_splice	CSMD3_ENST00000352409.3_Splice_Site_p.K1295_splice|CSMD3_ENST00000343508.3_Splice_Site_p.K1255_splice|CSMD3_ENST00000455883.2_Splice_Site_p.K1191_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1295	CUB 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCACCTACCTTAAGAACATC	0.289000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			67	57					0	0	1	0	0
KLF8	11279	broad.mit.edu	37	X	56296753	56296753	+	Splice_Site	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:56296753A>T	ENST00000468660.1	+	5	1185	c.898_splice	c.e5+1	p.T299_splice	KLF8_ENST00000374928.3_Intron	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						GAATCCATACAGGTCTGCCCA	0.512000													9	6					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20597443	20597443	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:20597443C>T	ENST00000504154.1	+	31	3558	c.3306C>T	c.(3304-3306)tgC>tgT	p.C1102C	SLIT2_ENST00000503823.1_Silent_p.C1094C|SLIT2_ENST00000273739.5_Silent_p.C1115C|SLIT2_ENST00000503837.1_Silent_p.C1098C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1102	EGF-like 5; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CGTGCATATGCCCCGAAGGTT	0.438000													4	154					0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95609023	95609023	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:95609023A>T	ENST00000395505.2	-	3	2030	c.1938T>A	c.(1936-1938)caT>caA	p.H646Q	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.H646Q|ZNF484_ENST00000375495.3_Missense_Mutation_p.H682Q|ZNF484_ENST00000395506.3_Missense_Mutation_p.H684Q	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	682					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GGGATTGCTGATGTATATGGA	0.398000													155	101					0	0	1	0	0
USPL1	10208	broad.mit.edu	37	13	31233367	31233367	+	Silent	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:31233367A>G	ENST00000255304.4	+	9	3495	c.3153A>G	c.(3151-3153)ttA>ttG	p.L1051L		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	1051					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TTAGAACATTAAACTTGGAGA	0.398000													29	120					0	0	1	0	0
GALNT12	79695	broad.mit.edu	37	9	101608273	101608273	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:101608273G>A	ENST00000375011.3	+	9	1473	c.1473G>A	c.(1471-1473)acG>acA	p.T491T		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	491	Ricin B-type lectin.		T -> M (in CRCS1; germline mutation; loss of activity).			Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				TCGAGTACACGTCCCAGAAAG	0.473000													18	54					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155256095	155256095	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:155256095T>A	ENST00000357232.3	-	8	1140	c.1141A>T	c.(1141-1143)Aag>Tag	p.K381*	DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Nonsense_Mutation_p.K880*	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	381	Cadherin 2.|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAAGTGTACTTAGGCCTTTCA	0.448000													60	115					0	0	1	0	0
NUDT11	55190	broad.mit.edu	37	X	51239212	51239212	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:51239212G>T	ENST00000375992.3	-	1	236	c.85C>A	c.(85-87)Cgc>Agc	p.R29S		NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11	29	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TCGTCCTCGCGTTCGCTCCGG	0.692000										HNSCC(48;0.14)			5	3					0.184627	0.186561	1	1	0
SASH1	23328	broad.mit.edu	37	6	148864928	148864928	+	Silent	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:148864928A>G	ENST00000367467.3	+	18	2797	c.2322A>G	c.(2320-2322)tcA>tcG	p.S774S		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	774							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TAATGAAATCAGGGGATGCAC	0.542000													4	196					0	0	1	0	0
PURB	5814	broad.mit.edu	37	7	44924479	44924479	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:44924479A>T	ENST00000395699.2	-	1	481	c.469T>A	c.(469-471)Ttc>Atc	p.F157I		NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	157	Gly-rich.				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						cccgcgccgAAGCCGCCACCG	0.701000													3	6					0	0	1	0	0
LRRC23	10233	broad.mit.edu	37	12	7016479	7016479	+	Splice_Site	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:7016479G>A	ENST00000007969.8	+	5	711	c.490_splice	c.e5-1	p.G164_splice	LRRC23_ENST00000429740.1_Intron|LRRC23_ENST00000323702.5_Splice_Site_p.G164_splice|LRRC23_ENST00000436789.1_Splice_Site_p.G164_splice|LRRC23_ENST00000443597.2_Splice_Site_p.G164_splice|LRRC23_ENST00000433346.1_Splice_Site_p.G164_splice	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	164										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						TCCTCCCCAGGGAACAGCATC	0.547000													118	187					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164741477	164741477	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:164741477C>T	ENST00000264382.3	-	26	3042	c.2980G>A	c.(2980-2982)Ggt>Agt	p.G994S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	994	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.G994C(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GCTGTTATACCCATGGATGAA	0.403000										HNSCC(35;0.089)			46	142					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65147297	65147297	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:65147297C>T	ENST00000358691.5	-	18	2387	c.2221G>A	c.(2221-2223)Gtg>Atg	p.V741M	HELZ_ENST00000580168.1_Missense_Mutation_p.V742M	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TACTGATGCACAACTGGGTGG	0.378000													31	153					0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183177137	183177137	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:183177137G>A	ENST00000264144.4	+	2	266	c.201G>A	c.(199-201)aaG>aaA	p.K67K	LAMC2_ENST00000493293.1_Silent_p.K67K	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	67	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						ACTGCGAGAAGTGCAAGAATG	0.498000													207	366					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6686812	6686812	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:6686812G>A	ENST00000245907.6	-	28	3683	c.3591C>T	c.(3589-3591)gcC>gcT	p.A1197A		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1197					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TGCCCATCTGGGCCAGAGCAT	0.542000													132	196					0	0	1	0	0
OR7A5	26659	broad.mit.edu	37	19	14938984	14938984	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:14938984G>T	ENST00000322301.3	-	2	157	c.70C>A	c.(70-72)Caa>Aaa	p.Q24K	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.Q24K			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						AGGAAGGGTTGCAGTCCAGGT	0.473000													43	69					7.63091e-17	1.00188e-16	1	1	0
PRSS3P2	154754	broad.mit.edu	37	7	142481789	142481789	+	RNA	SNP	T	T	C	rs140267598	by1000genomes	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:142481789T>C	ENST00000603901.1	+	0	468					NR_001296.3																						ACTACCCAGATGAGCTGCAGT	0.488000													4	130					0	0	1	0	0
HBE1	3046	broad.mit.edu	37	11	5291131	5291131	+	Translation_Start_Site	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:5291131C>A	ENST00000380237.1	-	0	334				HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_De_novo_Start_InFrame			P02100	HBE_HUMAN	hemoglobin, epsilon 1						blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATGCCAGGCCTGAGAGCTTG	0.542000													10	28					7.48243e-07	8.2678e-07	1	1	0
MYT1L	23040	broad.mit.edu	37	2	1906998	1906998	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:1906998G>C	ENST00000399161.2	-	14	2633	c.1886C>G	c.(1885-1887)aCg>aGg	p.T629R	MYT1L_ENST00000428368.2_Missense_Mutation_p.T627R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	629					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGAACGCGGCGTAGTTGTGGG	0.463000													15	43					0	0	1	0	0
RTKN2	219790	broad.mit.edu	37	10	63964747	63964747	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:63964747T>C	ENST00000373789.3	-	10	1151	c.1055A>G	c.(1054-1056)aAg>aGg	p.K352R	RTKN2_ENST00000315289.2_Missense_Mutation_p.K154R|RTKN2_ENST00000395265.1_Missense_Mutation_p.K373R	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	352	PH.				signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GATTCTTTTCTTGGCATCCTT	0.348000													30	77					0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	86114784	86114784	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:86114784C>G	ENST00000383699.3	+	9	1627	c.1000C>G	c.(1000-1002)Cct>Gct	p.P334A	CADM2_ENST00000405615.2_Missense_Mutation_p.P367A|CADM2_ENST00000407528.2_Missense_Mutation_p.P365A	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	365	Thr-rich.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		p.P334T(1)|p.P367T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CCAGAATGGCCCTGACCATGC	0.403000													37	37					0	0	1	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62855907	62855907	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:62855907C>A	ENST00000584306.1	-	11	4887	c.4357G>T	c.(4357-4359)Gac>Tac	p.D1453Y	LRRC37A3_ENST00000319651.5_Missense_Mutation_p.D1453Y|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.D491Y|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.D430Y|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.D571Y	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1453						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GGGGACAGGTCAGTGCCCACG	0.502000													26	125					1.13719e-10	1.3548e-10	1	1	0
NFKBIZ	64332	broad.mit.edu	37	3	101572505	101572505	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:101572505A>T	ENST00000326172.5	+	5	1250	c.1135A>T	c.(1135-1137)Agc>Tgc	p.S379C	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.S279C|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.S257C	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	379	Required for transcriptional activity (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CATGATGCCCAGCAGCGCCTG	0.493000													64	139					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121195496	121195496	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:121195496C>A	ENST00000264233.5	-	20	6424	c.6296G>T	c.(6295-6297)tGt>tTt	p.C2099F		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2099					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTGACTTTCACATTCTGCAGT	0.428000								DNA polymerases (catalytic subunits)					32	81					1.74807e-11	2.11301e-11	1	1	0
GYPA	2993	broad.mit.edu	37	4	145039886	145039886	+	Silent	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:145039886G>T	ENST00000360771.4	-	4	367	c.252C>A	c.(250-252)gcC>gcA	p.A84A	GYPA_ENST00000535709.1_Silent_p.A58A|GYPA_ENST00000503627.1_Intron|GYPA_ENST00000512064.1_Intron|GYPA_ENST00000504786.1_Silent_p.A52A|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000324022.10_Silent_p.A51A|GYPA_ENST00000512789.1_Silent_p.A19A|GYPB_ENST00000283126.7_Intron	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	84			A -> P (in ENEP/HAG antigen).		interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					AGAAATGATGGGCAAGTTGTA	0.313000													44	129					8.30282e-39	1.25846e-38	1	1	0
LIMS2	55679	broad.mit.edu	37	2	128414981	128414981	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:128414981T>G	ENST00000409455.1	-	2	787	c.152A>C	c.(151-153)tAt>tCt	p.Y51S	LIMS2_ENST00000324938.5_Missense_Mutation_p.Y80S|LIMS2_ENST00000545738.2_Missense_Mutation_p.Y78S|LIMS2_ENST00000355119.4_Missense_Mutation_p.Y56S|LIMS2_ENST00000409808.2_Missense_Mutation_p.Y51S|LIMS2_ENST00000410011.1_Missense_Mutation_p.Y51S			Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	56	LIM zinc-binding 1.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		CCTCACCTCATAGAAGAGCCC	0.627000													55	105					0	0	1	0	0
RPSAP52	204010	broad.mit.edu	37	12	66152423	66152423	+	RNA	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:66152423C>T	ENST00000489520.2	-	0	520					NR_026825.2																						CACAAGAAGCCGTGGCTCCCA	0.537000													19	33					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92498219	92498219	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:92498219C>A	ENST00000298047.6	+	5	4176	c.4159C>A	c.(4159-4161)Cag>Aag	p.Q1387K	FAT3_ENST00000409404.2_Missense_Mutation_p.Q1387K|RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000525166.1_Missense_Mutation_p.Q1237K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1387	Cadherin 13.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			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)				GGTGTCTGTGCAGCCAGCTAA	0.433000										TCGA Ovarian(4;0.039)			8	27					0.00307968	0.00323032	1	1	0
LIFR	3977	broad.mit.edu	37	5	38486048	38486048	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:38486048G>A	ENST00000263409.4	-	17	2532	c.2370C>T	c.(2368-2370)gaC>gaT	p.D790D	LIFR_ENST00000453190.2_Silent_p.D790D	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	790	Fibronectin type-III 6.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TCTGGGATATGTCAGTAATAT	0.408000			T	PLAG1	salivary adenoma								14	74					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154519576	154519576	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:154519576C>T	ENST00000404039.1	+	8	1257	c.670C>T	c.(670-672)Ctc>Ttc	p.L224F	DPP6_ENST00000377770.3_Missense_Mutation_p.L288F|DPP6_ENST00000332007.3_Missense_Mutation_p.L226F|DPP6_ENST00000427557.1_Missense_Mutation_p.L181F	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	288					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TTACAATGGCCTCAGTGACTG	0.428000													26	61					0	0	1	0	0
MSH3	4437	broad.mit.edu	37	5	80168934	80168934	+	Splice_Site	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:80168934G>T	ENST00000265081.6	+	23	3210		c.e23-1			NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3						maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TTATTTCACAGGCGCAGCAGA	0.363000								Mismatch excision repair (MMR)					38	120					4.17593e-13	5.22217e-13	1	1	0
PCDH17	27253	broad.mit.edu	37	13	58208417	58208417	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:58208417C>T	ENST00000377918.3	+	1	1763	c.1737C>T	c.(1735-1737)aaC>aaT	p.N579N		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	579	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGAATGACAACGCGCCAGTGA	0.642000													11	69					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83128538	83128538	+	Silent	SNP	G	G	A	rs148140928		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:83128538G>A	ENST00000329312.4	+	4	859	c.822G>A	c.(820-822)aaG>aaA	p.K274K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	274					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ATAATTCAAAGAATTATTCTT	0.318000													6	17					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74332976	74332976	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:74332976C>A	ENST00000377044.4	-	13	2826	c.2287G>T	c.(2287-2289)Gca>Tca	p.A763S	TMEM2_ENST00000377066.5_Missense_Mutation_p.A700S	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	763						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TCGGGGTTTGCATCCTGATGA	0.348000													100	94					1.07277e-64	1.67873e-64	1	1	0
KRT19P2	160313	broad.mit.edu	37	12	95228715	95228715	+	RNA	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:95228715C>A	ENST00000405395.2	+	0	486					NR_036685.1																						CCTTAGAAGGCACACTGGCAG	0.567000													3	20					0.115264	0.117911	1	1	0
THSD7B	80731	broad.mit.edu	37	2	138376011	138376011	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:138376011C>T	ENST00000409968.1	+	19	3793	c.3615C>T	c.(3613-3615)gtC>gtT	p.V1205V	THSD7B_ENST00000413152.2_Silent_p.V1177V|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.V1208V					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTCAAGGCGTCAGGACCCGCC	0.507000													6	42					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123217393	123217393	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:123217393G>A	ENST00000371160.1	+	29	3337	c.3047G>A	c.(3046-3048)aGa>aAa	p.R1016K	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Missense_Mutation_p.R947K|STAG2_ENST00000371157.3_Missense_Mutation_p.R1016K|STAG2_ENST00000371144.3_Missense_Mutation_p.R1016K|STAG2_ENST00000218089.9_Missense_Mutation_p.R1016K|STAG2_ENST00000371145.3_Missense_Mutation_p.R1016K			Q8N3U4	STAG2_HUMAN	stromal antigen 2	1016					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CAAGACAAAAGAACAGTGTAT	0.358000													25	30					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155578189	155578189	+	Silent	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:155578189C>G	ENST00000461783.3	+	29	6313	c.5040C>G	c.(5038-5040)gtC>gtG	p.V1680V	TIAM2_ENST00000360366.4_Silent_p.V1704V|TIAM2_ENST00000529824.2_Silent_p.V1709V|TIAM2_ENST00000318981.5_Silent_p.V1680V|TIAM2_ENST00000528391.2_Silent_p.V1024V|TIAM2_ENST00000456144.1_Silent_p.V1709V|TIAM2_ENST00000456877.2_Silent_p.V992V|TIAM2_ENST00000275246.7_Silent_p.V605V|TIAM2_ENST00000367174.2_Silent_p.V1056V			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1680					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AATTCAGTGTCCAGAGTTTAA	0.428000													15	75					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48696506	48696506	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:48696506G>T	ENST00000544264.1	-	1	3842	c.3562C>A	c.(3562-3564)Ccg>Acg	p.P1188T	CELSR3_ENST00000164024.4_Missense_Mutation_p.P1188T			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1188	Cadherin 9.				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)		ATGCCCGACGGGAAGGTGTCT	0.537000													61	52					2.91325e-39	4.42723e-39	1	1	0
PDYN	5173	broad.mit.edu	37	20	1961152	1961152	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr20:1961152G>A	ENST00000217305.2	-	4	807	c.582C>T	c.(580-582)gaC>gaT	p.D194D	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Silent_p.D194D|PDYN_ENST00000539905.1_Silent_p.D194D	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	194					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	p.D194E(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGCTATCCCCGTCCCCCTCCC	0.592000													93	158					0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45800531	45800531	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:45800531G>T	ENST00000358525.4	-	11	1833	c.1718C>A	c.(1717-1719)gCg>gAg	p.A573E	SLC6A20_ENST00000353278.4_Missense_Mutation_p.A536E|SLC6A20_ENST00000456124.2_Intron	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	573					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CCCCAGGGCCGCCAGGGGGAT	0.612000													42	39					2.54651e-27	3.64957e-27	1	1	0
TTN	7273	broad.mit.edu	37	2	179529453	179529453	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:179529453G>T	ENST00000589042.1	-	167	36354	c.36130C>A	c.(36130-36132)Ctc>Atc	p.L12044I	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10192	Ig-like 80.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTCTTGGAGAGCTTCAGGC	0.383000													41	26					3.54909e-21	4.83511e-21	1	1	0
HERC2P3	283755	broad.mit.edu	37	15	20657758	20657758	+	RNA	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:20657758C>A	ENST00000428453.1	-	0	2200																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GGTCCCCAAGCTCGGTCCCGA	0.557000													15	33					7.93312e-07	8.7159e-07	1	1	0
WDR6	11180	broad.mit.edu	37	3	49050668	49050668	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:49050668C>G	ENST00000395474.3	+	2	2071	c.1791C>G	c.(1789-1791)caC>caG	p.H597Q	WDR6_ENST00000448293.1_Missense_Mutation_p.H516Q|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_Intron	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	567					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CCTCTCTGCACGGGAAGCAGG	0.597000													4	55					0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7400084	7400084	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:7400084T>G	ENST00000399429.3	-	34	3282	c.3142A>C	c.(3142-3144)Acc>Ccc	p.T1048P		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	1048					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCAGATGAGGTAGTGGCAGGC	0.517000													50	79					0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165749685	165749685	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:165749685C>G	ENST00000366882.1	-	22	2318	c.2164G>C	c.(2164-2166)Gcc>Ccc	p.A722P	PDE10A_ENST00000539869.2_Missense_Mutation_p.A732P|PDE10A_ENST00000354448.4_Missense_Mutation_p.A722P			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	722					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	ATGGCCACGGCATTGTAGAAC	0.453000													9	57					0	0	1	0	0
DRD3	1814	broad.mit.edu	37	3	113858352	113858352	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:113858352G>T	ENST00000383673.2	-	5	1148	c.718C>A	c.(718-720)Cag>Aag	p.Q240K	DRD3_ENST00000295881.7_Missense_Mutation_p.Q240K|DRD3_ENST00000467632.1_Missense_Mutation_p.Q240K|DRD3_ENST00000460779.1_Missense_Mutation_p.Q240K	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	240					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	CTTACTTGCTGGGGGAAGCCA	0.512000													75	212					1.43161e-34	2.12539e-34	1	1	0
SF3B3	23450	broad.mit.edu	37	16	70575702	70575702	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:70575702G>A	ENST00000302516.5	+	9	1409	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	400					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GCTGGTTGATGAGTTGGACAG	0.448000													6	297					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170063612	170063612	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:170063612C>A	ENST00000263816.3	-	39	6903	c.6618G>T	c.(6616-6618)tgG>tgT	p.W2206C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2206					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CATAGTCAGCCCAGAAGAGGT	0.483000													114	249					5.16181e-52	7.96983e-52	1	1	0
FHL5	9457	broad.mit.edu	37	6	97053872	97053872	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:97053872C>A	ENST00000326771.2	+	5	809	c.429C>A	c.(427-429)atC>atA	p.I143I	FHL5_ENST00000541107.1_Silent_p.I143I	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	143	LIM zinc-binding 2.					nucleus	zinc ion binding	p.I143I(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		AGCCTTTGATCTCCAAAGAGA	0.413000													34	72					3.11337e-16	4.03276e-16	1	1	0
OR4N4	283694	broad.mit.edu	37	15	22382673	22382673	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:22382673C>A	ENST00000328795.4	+	1	292	c.201C>A	c.(199-201)gcC>gcA	p.A67A	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GCAACTTGGCCTTCCTGGATG	0.483000													26	552					1.46156e-29	2.11033e-29	1	1	0
SLC22A4	6583	broad.mit.edu	37	5	131630517	131630517	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:131630517C>A	ENST00000200652.3	+	1	382	c.208C>A	c.(208-210)Cgg>Agg	p.R70R	P4HA2_ENST00000471826.1_Intron	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	70					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TGTCCCGCTGCGGCTGCGGGA	0.721000													6	23					2.0095e-06	2.2036e-06	1	1	0
XKR4	114786	broad.mit.edu	37	8	56015496	56015496	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:56015496T>C	ENST00000327381.5	+	1	548	c.448T>C	c.(448-450)Ttc>Ctc	p.F150L		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	150						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GCTCACGCTCTTCTTCGTGGT	0.662000													13	59					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													3	65					0.004672	0.00486527	1	1	0
FCGBP	8857	broad.mit.edu	37	19	40362807	40362807	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:40362807G>T	ENST00000221347.6	-	32	15270	c.15263C>A	c.(15262-15264)gCc>gAc	p.A5088D		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5088						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCACAGGAAGGCTTTGTCACC	0.652000													79	117					2.67039e-37	4.01599e-37	1	1	0
IGHV3-15	28448	broad.mit.edu	37	14	106610441	106610441	+	RNA	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:106610441C>T	ENST00000390603.2	-	0	308																											TCTGTTGTCCCACCATCAGTT	0.507000													30	230					0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43268276	43268276	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:43268276G>T	ENST00000404209.4	-	2	318	c.222C>A	c.(220-222)gaC>gaA	p.D74E	PSG8_ENST00000406636.3_Intron|PSG8_ENST00000306511.4_Missense_Mutation_p.D74E|PSG8_ENST00000401467.2_Missense_Mutation_p.D74E	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	74	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				AATGGTAGAGGTCCCTGATTT	0.423000													201	607					8.44433e-94	1.32861e-93	1	1	0
HNRNPU	3192	broad.mit.edu	37	1	245019776	245019776	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:245019776G>A	ENST00000444376.2	-	10	2072	c.1838C>T	c.(1837-1839)gCg>gTg	p.A613V	HNRNPU_ENST00000283179.9_Missense_Mutation_p.A632V	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	632					CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TTTGAGGACCGCATGTTCTGG	0.368000													5	355					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140389511	140389511	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140389511A>T	ENST00000532602.1	+	4	3875	c.2842A>T	c.(2842-2844)Agt>Tgt	p.S948C	PCDHA1_ENST00000504120.2_Missense_Mutation_p.S948C|PCDHA6_ENST00000527624.1_Missense_Mutation_p.S684C|PCDHA10_ENST00000307360.5_Missense_Mutation_p.S946C|PCDHA6_ENST00000529310.1_Missense_Mutation_p.S948C|PCDHAC1_ENST00000253807.2_Missense_Mutation_p.S961C|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Missense_Mutation_p.S945C|PCDHA8_ENST00000531613.1_Missense_Mutation_p.S948C|PCDHA13_ENST00000289272.2_Missense_Mutation_p.S948C|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Missense_Mutation_p.S934C|PCDHA11_ENST00000398640.2_Missense_Mutation_p.S947C|PCDHA13_ENST00000409494.1_Intron|PCDHA7_ENST00000525929.1_Missense_Mutation_p.S935C|PCDHAC2_ENST00000289269.5_Missense_Mutation_p.S1005C|PCDHA3_ENST00000522353.2_Missense_Mutation_p.S948C|PCDHA10_ENST00000506939.2_Missense_Mutation_p.S683C|PCDHA12_ENST00000398631.2_Missense_Mutation_p.S939C|PCDHA2_ENST00000526136.1_Missense_Mutation_p.S946C|PCDHA1_ENST00000394633.3_Missense_Mutation_p.S684C	NM_031857.1	NP_114063.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTGACAACAGTGACCAGTG	0.428000													32	81					0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44184836	44184836	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:44184836T>A	ENST00000403799.3	-	10	1766	c.1297A>T	c.(1297-1299)Agc>Tgc	p.S433C	GCK_ENST00000395796.3_Missense_Mutation_p.S432C|GCK_ENST00000345378.2_Missense_Mutation_p.S434C|GCK_ENST00000437084.1_Missense_Mutation_p.S416C	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	433					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						ATCTCGCAGCTGGGCGTCAGC	0.657000													15	25					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466176	56466176	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:56466176C>T	ENST00000291971.3	+	3	823	c.752C>T	c.(751-753)aCg>aTg	p.T251M	NLRP8_ENST00000590542.1_Missense_Mutation_p.T251M	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	251	NACHT.					cytoplasm	ATP binding	p.T251M(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTGAACCAGACGACAGACCAG	0.512000													49	210					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101597728	101597728	+	Silent	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:101597728G>T	ENST00000310954.6	-	5	1195	c.909C>A	c.(907-909)gtC>gtA	p.V303V		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	303					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CATCCTCAGTGACATCAGTGC	0.358000													13	52					1.5842e-08	1.81634e-08	1	1	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74833001	74833001	+	Silent	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:74833001T>C	ENST00000370895.1	+	14	1577	c.1542T>C	c.(1540-1542)tgT>tgC	p.C514C	TNNI3K_ENST00000326637.3_Silent_p.C413C|TNNI3K_ENST00000370891.2_Silent_p.C514C|FPGT-TNNI3K_ENST00000370899.3_Silent_p.C514C|RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000557284.1_Silent_p.C514C			Q59H18	TNI3K_HUMAN		413	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										AATTGCCCTGTAATGAATATT	0.358000													60	139					0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106844468	106844468	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:106844468C>T	ENST00000276185.4	+	16	3298	c.3298C>T	c.(3298-3300)Cga>Tga	p.R1100*				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1100						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						CTATCTTTTGCGAACAAGCCG	0.597000													18	21					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7773950	7773950	+	Silent	SNP	G	G	A	rs150260189		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:7773950G>A	ENST00000358415.4	+	13	1804	c.1638G>A	c.(1636-1638)acG>acA	p.T546T	ITIH2_ENST00000379587.4_Silent_p.T535T	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	546					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GCGTTATCACGGCGACTTCGG	0.438000													14	148					0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53045402	53045402	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:53045402C>T	ENST00000309680.3	-	1	546	c.525G>A	c.(523-525)aaG>aaA	p.K175K		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	175	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		GCTCTTGGGCCTTCACATTCT	0.532000													62	156					0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127797032	127797032	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:127797032G>T	ENST00000556132.1	-	6	3003	c.2139C>A	c.(2137-2139)aaC>aaA	p.N713K	SOGA3_ENST00000525778.1_Missense_Mutation_p.N713K|SOGA3_ENST00000368268.2_Missense_Mutation_p.N713K|SOGA3_ENST00000481848.2_Missense_Mutation_p.N713K|SOGA3_ENST00000465909.2_Missense_Mutation_p.N713K	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	713						integral to membrane											CGCTGAGCTCGTTGATCTGCA	0.652000													31	139					1.06801e-11	1.29639e-11	1	1	0
HP	3240	broad.mit.edu	37	16	72094424	72094424	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:72094424C>A	ENST00000355906.5	+	7	914	c.856C>A	c.(856-858)Cga>Aga	p.R286R	HPR_ENST00000356967.5_Intron|HP_ENST00000398131.2_Silent_p.R227R|HP_ENST00000565574.1_Silent_p.R227R|HP_ENST00000562526.1_Intron|HP_ENST00000570083.1_Silent_p.R227R	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	286	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		TGGCTGGGGGCGAAATGCCAA	0.468000													39	33					6.29468e-14	7.92309e-14	1	1	0
IFI44L	10964	broad.mit.edu	37	1	79093997	79093997	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:79093997G>T	ENST00000370751.4	+	2	576	c.397G>T	c.(397-399)Gat>Tat	p.D133Y	IFI44L_ENST00000476521.1_Intron|IFI44L_ENST00000342282.3_Intron	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	133						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AATTTATCTAGATAAAATGAT	0.299000													15	42					2.31682e-05	2.50736e-05	1	1	0
SORCS3	22986	broad.mit.edu	37	10	106675638	106675638	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:106675638G>A	ENST00000369701.3	+	3	970	c.743G>A	c.(742-744)gGt>gAt	p.G248D		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	248						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GACAAAGTGGGTTTGAAGACT	0.468000													26	73					0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24801674	24801674	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:24801674G>A	ENST00000395799.3	+	6	1840	c.1711G>A	c.(1711-1713)Ggt>Agt	p.G571S	TNRC6A_ENST00000315183.7_Missense_Mutation_p.G571S	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	571	Sufficient for interaction with EIF2C1 and EIF2C4.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		AAACAAAGGAGGTGGTGTGTG	0.488000													27	96					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139833581	139833581	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:139833581C>A	ENST00000303045.6	-	7	1489	c.1043G>T	c.(1042-1044)aGg>aTg	p.R348M	COL22A1_ENST00000435777.1_Missense_Mutation_p.R348M	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	348	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GAAGACCACCCTGACAGCATC	0.572000										HNSCC(7;0.00092)			44	240					1.97e-11	2.37631e-11	1	1	0
ATRNL1	26033	broad.mit.edu	37	10	117486770	117486770	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:117486770G>T	ENST00000355044.3	+	27	3934	c.3808G>T	c.(3808-3810)Gaa>Taa	p.E1270*	ATRNL1_ENST00000423111.2_Nonsense_Mutation_p.E321*|ATRNL1_ENST00000303745.7_Nonsense_Mutation_p.E63*	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1270						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACTGCTTCGAGAACGACAGCA	0.438000													25	42					2.12542e-12	2.61833e-12	1	1	0
CNTN3	5067	broad.mit.edu	37	3	74334568	74334568	+	Silent	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:74334568G>C	ENST00000263665.6	-	19	2619	c.2592C>G	c.(2590-2592)gcC>gcG	p.A864A		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	864	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CCCGTAGTCTGGCTGATGTCT	0.547000													44	163					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71742778	71742778	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:71742778G>A	ENST00000258104.3	+	7	966	c.689G>A	c.(688-690)cGc>cAc	p.R230H	DYSF_ENST00000429174.2_Missense_Mutation_p.R230H|DYSF_ENST00000409651.1_Missense_Mutation_p.R262H|DYSF_ENST00000409762.1_Missense_Mutation_p.R261H|DYSF_ENST00000410020.3_Missense_Mutation_p.R262H|DYSF_ENST00000413539.2_Missense_Mutation_p.R261H|DYSF_ENST00000409744.1_Missense_Mutation_p.R231H|DYSF_ENST00000409582.3_Missense_Mutation_p.R261H|DYSF_ENST00000409366.1_Missense_Mutation_p.R231H|DYSF_ENST00000394120.2_Missense_Mutation_p.R231H|DYSF_ENST00000410041.1_Missense_Mutation_p.R262H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	230	C2 2.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ATCGAGGGGCGCCAGCTGCCG	0.592000													56	160					0	0	1	0	0
BET1	10282	broad.mit.edu	37	7	93628607	93628607	+	Splice_Site	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:93628607C>A	ENST00000222547.3	-	2	178		c.e2-1		AC006378.2_ENST00000426193.2_RNA|BET1_ENST00000433727.1_Splice_Site|BET1_ENST00000425626.1_Splice_Site|AC006378.2_ENST00000426634.1_RNA	NM_005868.4	NP_005859.1	O15155	BET1_HUMAN	Bet1 golgi vesicular membrane trafficking protein						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein binding			large_intestine(2)|lung(1)|prostate(1)|skin(1)	5	all_cancers(62;2.22e-10)|all_epithelial(64;1.38e-09)|Lung NSC(181;0.218)	Breast(660;0.000162)|Ovarian(593;0.000626)	STAD - Stomach adenocarcinoma(171;0.000967)			ACTCCTTCACCTGCAAGGATC	0.458000													33	66					5.8336e-16	7.5059e-16	1	1	0
ATP10A	57194	broad.mit.edu	37	15	25959218	25959218	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:25959218G>A	ENST00000356865.6	-	10	2058	c.1947C>T	c.(1945-1947)ggC>ggT	p.G649G		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	649					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGAGAAGCATGCCGTCGCTGG	0.677000													22	43					0	0	1	0	0
RP11-383M4.6	0	broad.mit.edu	37	9	84564234	84564234	+	RNA	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:84564234C>A	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							AAATCTTCCCCAACCTTGAAA	0.458000													4	4					0.014758	0.0152315	1	1	0
SCN11A	11280	broad.mit.edu	37	3	38888746	38888746	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:38888746C>A	ENST00000450244.1	-	26	5013	c.4815G>T	c.(4813-4815)gaG>gaT	p.E1605D	SCN11A_ENST00000456224.3_Missense_Mutation_p.E1567D|SCN11A_ENST00000302328.3_Missense_Mutation_p.E1605D			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1605					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TATTGAAGTTCTCTAAAATCA	0.408000													5	199					0.014758	0.0152315	1	1	0
MCRS1	10445	broad.mit.edu	37	12	49952509	49952509	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:49952509C>T	ENST00000550165.1	-	16	1572	c.1306G>A	c.(1306-1308)Gcc>Acc	p.A436T	MCRS1_ENST00000547182.1_5'UTR|MCRS1_ENST00000546244.1_Missense_Mutation_p.A245T|MCRS1_ENST00000357123.4_Missense_Mutation_p.A449T|MCRS1_ENST00000343810.4_Missense_Mutation_p.A436T			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	436					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						CGCAGGCTGGCGATCTGGGTG	0.577000													41	79					0	0	1	0	0
OR6N1	128372	broad.mit.edu	37	1	158735613	158735613	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:158735613G>T	ENST00000335094.2	-	1	879	c.860C>A	c.(859-861)cCc>cAc	p.P287H		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GTAGATGAAGGGGTTGAGGAA	0.522000													45	239					5.34276e-22	7.36537e-22	1	1	0
NPFFR2	10886	broad.mit.edu	37	4	73012843	73012843	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:73012843A>G	ENST00000308744.6	+	4	981	c.883A>G	c.(883-885)Aga>Gga	p.R295G	NPFFR2_ENST00000395999.1_Missense_Mutation_p.R196G|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.R193G|NPFFR2_ENST00000506359.1_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	295					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TTACCGAGTGAGACTCAACTC	0.438000													87	212					0	0	1	0	0
CEL	1056	broad.mit.edu	37	9	135947074	135947074	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:135947074G>T	ENST00000372080.4	+	11	2210	c.2194G>T	c.(2194-2196)Ggt>Tgt	p.G732C	CEL_ENST00000351304.7_Missense_Mutation_p.G663C	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	729	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GCCCCCCACGGGTGACTCTGA	0.682000													15	82					2.32078e-09	2.71461e-09	1	1	0
DLG2	1740	broad.mit.edu	37	11	84996411	84996411	+	Splice_Site	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:84996411T>A	ENST00000376104.2	-	4	352		c.e4-2		DLG2_ENST00000543673.1_Splice_Site	NM_001142699.1	NP_001136171.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)							cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CTTGGATATCTGTAAAGAAAA	0.313000													25	77					0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90317991	90317991	+	Silent	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:90317991G>T	ENST00000469640.2	+	26	3369	c.2994G>T	c.(2992-2994)ctG>ctT	p.L998L	DAPK1_ENST00000358077.5_Silent_p.L973L|DAPK1_ENST00000472284.1_Silent_p.L973L|DAPK1_ENST00000491893.1_Silent_p.L907L|DAPK1_ENST00000408954.3_Silent_p.L973L			P53355	DAPK1_HUMAN	death-associated protein kinase 1	973					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TCTCCACGCTGCCTTCCTGGA	0.597000									Chronic Lymphocytic Leukemia, Familial Clustering of				33	127					1.22384e-17	1.61412e-17	1	1	0
CPLX1	10815	broad.mit.edu	37	4	786337	786337	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:786337C>A	ENST00000304062.6	-	3	322	c.91G>T	c.(91-93)Gcc>Tcc	p.A31S	CPLX1_ENST00000505203.1_Missense_Mutation_p.A31S	NM_006651.3	NP_006642.1	O14810	CPLX1_HUMAN	complexin 1	31					glutamate secretion	cytosol				kidney(1)|lung(2)	3				Colorectal(103;0.187)		TCCTTCTTGGCGGCGTCTGGG	0.657000													31	113					4.31634e-10	5.10032e-10	1	1	0
ATP12A	479	broad.mit.edu	37	13	25262596	25262596	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:25262596C>T	ENST00000218548.6	+	4	701	c.368C>T	c.(367-369)gCc>gTc	p.A123V	ATP12A_ENST00000381946.3_Missense_Mutation_p.A123V	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	123					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TGGGTGGGCGCCTTTCTCTGT	0.572000													241	406					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221424	55221424	+	RNA	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:55221424T>A	ENST00000413439.1	+	0	1204																											GTGGCTCTGATGTCGGCTATG	0.627000													13	71					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59221456	59221456	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr18:59221456A>C	ENST00000262717.4	+	12	2332	c.1934A>C	c.(1933-1935)cAc>cCc	p.H645P	CDH20_ENST00000538374.1_Missense_Mutation_p.H645P|CDH20_ENST00000536675.2_Missense_Mutation_p.H645P			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	645					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ATGAGGCGGCACCGGAAACAA	0.557000													52	53					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158582745	158582745	+	Silent	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:158582745G>T	ENST00000368148.3	-	51	7176	c.6996C>A	c.(6994-6996)ggC>ggA	p.G2332G	SPTA1_ENST00000368147.3_Silent_p.G2329G	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2332	EF-hand 2.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTGAGACATAGCCCTTCCTGT	0.473000													33	71					9.78306e-22	1.34227e-21	1	1	0
PRKD1	5587	broad.mit.edu	37	14	30066838	30066838	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:30066838C>T	ENST00000331968.5	-	16	2522	c.2293G>A	c.(2293-2295)Gac>Aac	p.D765N	PRKD1_ENST00000415220.2_Missense_Mutation_p.D773N	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	765	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GACCACATGTCTAGAGAGCGA	0.493000													34	157					0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22729204	22729204	+	RNA	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:22729204A>T	ENST00000508166.1	+	0	160				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCAATAGTAGAGGGGTCATCT	0.458000													88	352					0	0	1	0	0
FAM83H	286077	broad.mit.edu	37	8	144810245	144810245	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:144810245C>T	ENST00000388913.3	-	5	1511	c.1386G>A	c.(1384-1386)ccG>ccA	p.P462P		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	462					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCGTGAGCTGCGGGTCCCACT	0.701000													7	66					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790286	133790286	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:133790286G>A	ENST00000321016.8	-	18	3564	c.3334C>T	c.(3334-3336)Cct>Tct	p.P1112S	IGSF9B_ENST00000533871.2_Missense_Mutation_p.P1112S			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1112	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCTGGGACAGGGCCCCTGCCG	0.682000													5	59					0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95080961	95080961	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:95080961C>A	ENST00000553947.1	+	5	1146	c.258C>A	c.(256-258)taC>taA	p.Y86*	SERPINA3_ENST00000467132.1_Nonsense_Mutation_p.Y61*|SERPINA3_ENST00000393078.3_Nonsense_Mutation_p.Y61*|SERPINA3_ENST00000393080.4_Nonsense_Mutation_p.Y61*|SERPINA3_ENST00000556388.1_Intron			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	61					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TCAGCCTGTACAAGCAGTTAG	0.557000													80	127					1.43161e-34	2.12539e-34	1	1	0
CHD4	1108	broad.mit.edu	37	12	6690915	6690915	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:6690915G>C	ENST00000309577.6	-	30	4828	c.4665C>G	c.(4663-4665)aaC>aaG	p.N1555K	CHD4_ENST00000544484.1_Missense_Mutation_p.N1552K|CHD4_ENST00000544040.1_Missense_Mutation_p.N1520K|CHD4_ENST00000357008.2_Missense_Mutation_p.N1527K|RP5-940J5.6_ENST00000501075.2_RNA			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1527					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ACATCTTCTTGTTTTCCTCCA	0.547000													54	193					0	0	1	0	0
CAMK2B	816	broad.mit.edu	37	7	44259804	44259804	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:44259804T>A	ENST00000395749.2	-	23	1934	c.1858A>T	c.(1858-1860)Atc>Ttc	p.I620F	CAMK2B_ENST00000440254.2_Missense_Mutation_p.I496F|CAMK2B_ENST00000346990.4_Missense_Mutation_p.I403F|CAMK2B_ENST00000395747.2_Missense_Mutation_p.I472F|CAMK2B_ENST00000457475.1_Missense_Mutation_p.I472F|CAMK2B_ENST00000353625.4_Missense_Mutation_p.I433F|CAMK2B_ENST00000350811.3_Missense_Mutation_p.I496F|CAMK2B_ENST00000502837.2_3'UTR|CAMK2B_ENST00000358707.3_Missense_Mutation_p.I457F|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000258682.6_Missense_Mutation_p.I471F|CAMK2B_ENST00000347193.4_Missense_Mutation_p.I446F	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	620					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						GTGAGCCGGATGTAAGCGATG	0.642000													9	40					0	0	1	0	0
SYT11	23208	broad.mit.edu	37	1	155851056	155851056	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:155851056G>A	ENST00000368324.4	+	4	1306	c.1053G>A	c.(1051-1053)aaG>aaA	p.K351K	SYT11_ENST00000539162.1_Silent_p.K44K	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	351	C2 2.					cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CCCATGTGAAGAAGTGCACTT	0.473000													95	646					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152702445	152702445	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:152702445G>C	ENST00000367255.5	-	56	9306	c.8705C>G	c.(8704-8706)tCg>tGg	p.S2902W	SYNE1-AS1_ENST00000412161.1_RNA|SYNE1_ENST00000341594.5_Missense_Mutation_p.S2941W|SYNE1_ENST00000265368.4_Missense_Mutation_p.S2902W|SYNE1_ENST00000448038.1_Missense_Mutation_p.S2909W|SYNE1_ENST00000423061.1_Missense_Mutation_p.S2909W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2902					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGGAGCCAGCGACTCCACTCT	0.542000										HNSCC(10;0.0054)			40	245					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101658519	101658519	+	Splice_Site	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:101658519T>C	ENST00000342239.3	-	8	2794		c.e8-2		DNMBP_ENST00000543621.1_Splice_Site|DNMBP_ENST00000324109.4_Splice_Site			Q6XZF7	DNMBP_HUMAN	dynamin binding protein						intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TATAGGCTCCTGCAAGGCAGT	0.368000													42	120					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11741112	11741112	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:11741112C>T	ENST00000381486.2	+	16	2820	c.2520C>T	c.(2518-2520)tcC>tcT	p.S840S	GREB1_ENST00000234142.5_Silent_p.S840S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	840						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGCCTGCCTCCTGCAGTAATG	0.532000													20	86					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175845	140175845	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140175845G>A	ENST00000526136.1	+	1	1296	c.1296G>A	c.(1294-1296)tcG>tcA	p.S432S	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.S432S|PCDHA2_ENST00000378132.1_Silent_p.S432S|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGGGGCTCGCCTTCACTGT	0.627000													28	78					0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	49713340	49713340	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:49713340A>G	ENST00000451037.2	-	7	1605	c.665T>C	c.(664-666)aTa>aCa	p.I222T	CA10_ENST00000570565.1_Missense_Mutation_p.I147T|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000285273.4_Missense_Mutation_p.I222T|CA10_ENST00000442502.2_Missense_Mutation_p.I222T|CA10_ENST00000340813.6_Missense_Mutation_p.I228T	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	222					brain development			p.I222T(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TAGTTCCTCTATATTAAGCCC	0.383000													33	109					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67799496	67799496	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:67799496T>G	ENST00000377861.3	-	2	3763	c.3077A>C	c.(3076-3078)aAg>aCg	p.K1026T	PCDH9_ENST00000544246.1_Intron|PCDH9_ENST00000328454.5_Intron|PCDH9_ENST00000456367.1_Intron|PCDH9_ENST00000377865.2_Intron			Q9HC56	PCDH9_HUMAN	protocadherin 9	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GACTGGGCACTTGTATGCAGT	0.428000													23	98					0	0	1	0	0
TDRD9	122402	broad.mit.edu	37	14	104474748	104474748	+	Splice_Site	SNP	A	A	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:104474748A>C	ENST00000409874.4	+	20	2100		c.e20-1		TDRD9_ENST00000339063.5_Splice_Site	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9						cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				ATATATTTAAAGGATGAACTT	0.264000													32	57					0	0	1	0	0
ATP6V1H	51606	broad.mit.edu	37	8	54669197	54669197	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:54669197C>A	ENST00000355221.3	-	11	1700	c.1141G>T	c.(1141-1143)Gaa>Taa	p.E381*	ATP6V1H_ENST00000359530.2_Nonsense_Mutation_p.E399*|ATP6V1H_ENST00000396774.2_Nonsense_Mutation_p.E399*|ATP6V1H_ENST00000523899.1_Intron|ATP6V1H_ENST00000520188.1_Nonsense_Mutation_p.E359*	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	399					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			TCTGACACTTCCAAAAGTTTT	0.378000													9	53					0.000274275	0.000291386	1	1	0
OR4M1	441670	broad.mit.edu	37	14	20248711	20248711	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:20248711C>A	ENST00000315957.4	+	1	311	c.230C>A	c.(229-231)aCa>aAa	p.T77K		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTTCCATTACAGCCCCTAAA	0.438000													212	610					2.46165e-77	3.86259e-77	1	1	0
ANKRD27	84079	broad.mit.edu	37	19	33117730	33117730	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:33117730T>G	ENST00000306065.4	-	16	1582	c.1424A>C	c.(1423-1425)cAg>cCg	p.Q475P		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	475					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GAGGGATGCCTGCCCTGCAGA	0.567000													9	14					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9561465	9561465	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr20:9561465G>A	ENST00000378429.3	-	5	863	c.317C>T	c.(316-318)cCc>cTc	p.P106L	PAK7_ENST00000378423.1_Missense_Mutation_p.P106L|PAK7_ENST00000353224.5_Missense_Mutation_p.P106L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	106	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATCTGGGGTGGGTGGGCTTTC	0.542000													127	185					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77629206	77629206	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:77629206G>A	ENST00000461745.1	+	16	3337	c.2437G>A	c.(2437-2439)Gag>Aag	p.E813K	ROBO2_ENST00000332191.8_Missense_Mutation_p.E813K|ROBO2_ENST00000487694.3_Missense_Mutation_p.E829K	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	813	Fibronectin type-III 3.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATACCGGGTAGAGGTTGCAGC	0.438000													47	58					0	0	1	0	0
ZNF778	197320	broad.mit.edu	37	16	89294059	89294059	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:89294059G>T	ENST00000433976.2	+	6	1611	c.1279G>T	c.(1279-1281)Ggg>Tgg	p.G427W	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.G385W	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		TAAGGACTGCGGGAAAGCCTT	0.502000													21	109					1.10923e-09	1.30273e-09	1	1	0
PITRM1	10531	broad.mit.edu	37	10	3190187	3190187	+	Silent	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:3190187T>A	ENST00000380989.2	-	18	2102	c.2064A>T	c.(2062-2064)atA>atT	p.I688I	PITRM1_ENST00000224949.4_Silent_p.I687I|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000380994.1_Silent_p.I245I|PITRM1_ENST00000451104.2_Intron|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	589					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						ACTTGTTAAATATTTCACTCC	0.398000													44	52					0	0	1	0	0
CSF3R	1441	broad.mit.edu	37	1	36933736	36933736	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:36933736C>G	ENST00000373103.1	-	13	2210	c.1663G>C	c.(1663-1665)Ggg>Cgg	p.G555R	CSF3R_ENST00000361632.4_Missense_Mutation_p.G555R|CSF3R_ENST00000440588.2_Missense_Mutation_p.G555R|CSF3R_ENST00000418048.2_Missense_Mutation_p.G555R|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000338937.5_Missense_Mutation_p.G555R|CSF3R_ENST00000331941.5_Missense_Mutation_p.G555R|CSF3R_ENST00000373104.1_Missense_Mutation_p.G555R|CSF3R_ENST00000373106.1_Missense_Mutation_p.G555R	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	555	Fibronectin type-III 5.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GGGCTCTTCCCCAGCTCAGGG	0.592000													42	82					0	0	1	0	0
KATNAL1	84056	broad.mit.edu	37	13	30784522	30784522	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:30784522T>A	ENST00000380615.3	-	10	1372	c.1205A>T	c.(1204-1206)gAt>gTt	p.D402V	KATNAL1_ENST00000380617.3_Missense_Mutation_p.D402V	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	402						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		CAGTTGAATATCAGGATCTAA	0.378000													22	113					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176638275	176638275	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:176638275G>T	ENST00000439151.2	+	5	2920	c.2875G>T	c.(2875-2877)Gga>Tga	p.G959*	NSD1_ENST00000347982.4_Nonsense_Mutation_p.G690*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.G690*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.G856*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	959					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTTGGTTTCAGGAGGCTCCAC	0.512000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			12	39					6.40141e-05	6.87647e-05	1	1	0
DDX60L	91351	broad.mit.edu	37	4	169348297	169348297	+	Silent	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:169348297A>G	ENST00000511577.1	-	14	2101	c.1854T>C	c.(1852-1854)aaT>aaC	p.N618N	DDX60L_ENST00000505890.1_Silent_p.N618N|DDX60L_ENST00000260184.7_Silent_p.N618N			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	618							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ATTTCACTGAATTACTTGCAC	0.353000													14	26					0	0	1	0	0
TRBV6-1	28606	broad.mit.edu	37	7	142028219	142028219	+	RNA	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:142028219G>A	ENST00000390353.2	+	0	99																											TTTCTCTCCTGTGGGCAAGTA	0.572000													24	135					0	0	1	0	0
ASB13	79754	broad.mit.edu	37	10	5693182	5693182	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:5693182T>G	ENST00000357700.6	-	3	402	c.376A>C	c.(376-378)Atg>Ctg	p.M126L	ASB13_ENST00000479033.1_Intron	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	126					intracellular signal transduction		protein binding			NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		TCACCGCTCATGCAGGCCTCG	0.612000													31	211					0	0	1	0	0
EDNRB	1910	broad.mit.edu	37	13	78474768	78474768	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:78474768C>T	ENST00000377211.4	-	6	1395	c.1243G>A	c.(1243-1245)Gtc>Atc	p.V415I	EDNRB_ENST00000446573.1_Missense_Mutation_p.V325I|EDNRB_ENST00000334286.5_Missense_Mutation_p.V325I	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	325					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	p.V415I(1)|p.V325I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	AGGCAAAAGACGGTTTTGGCC	0.418000													16	81					0	0	1	0	0
PHC2	1912	broad.mit.edu	37	1	33832992	33832992	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:33832992G>A	ENST00000257118.5	-	6	754	c.701C>T	c.(700-702)gCg>gTg	p.A234V	PHC2_ENST00000419414.2_Missense_Mutation_p.A234V|PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000431992.1_Missense_Mutation_p.A205V	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	234					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGCTGCTGCCGCTGGTGTCTG	0.622000											OREG0013344	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	74	153					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240964755	240964755	+	Splice_Site	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:240964755C>G	ENST00000366565.1	-	17	1794	c.1413_splice	c.e17+1	p.V471_splice	RGS7_ENST00000331110.7_Intron|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000407727.1_Splice_Site_p.V471_splice|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000446183.2_Intron|RGS7_ENST00000366564.1_Intron|RGS7_ENST00000366562.4_Intron|RGS7_ENST00000366563.1_Intron	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	471					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTAAACTTACCACATTCTGTG	0.353000													3	40					0	0	1	0	0
YTHDF2	51441	broad.mit.edu	37	1	29095450	29095450	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:29095450G>A	ENST00000373812.3	+	5	2088	c.1726G>A	c.(1726-1728)Ggt>Agt	p.G576S	YTHDF2_ENST00000541996.1_Missense_Mutation_p.G526S|YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000542507.1_Missense_Mutation_p.G576S	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	576					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GGAACGTCAAGGTCGTGGGAA	0.343000													8	63					0	0	1	0	0
AHI1	54806	broad.mit.edu	37	6	135788738	135788738	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:135788738T>C	ENST00000367800.4	-	4	386	c.170A>G	c.(169-171)aAa>aGa	p.K57R	AHI1_ENST00000327035.6_Missense_Mutation_p.K57R|AHI1_ENST00000457866.2_Missense_Mutation_p.K57R	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	57						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TGTAGTTTCTTTCATATAGTG	0.343000													11	39					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	394634	394634	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:394634G>A	ENST00000280886.6	-	26	3265	c.3178C>T	c.(3178-3180)Ccg>Tcg	p.P1060S		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1060						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGTGGGTGCGGGGGACGGACG	0.542000													152	165					0	0	1	0	0
GSPT2	23708	broad.mit.edu	37	X	51488354	51488354	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:51488354C>A	ENST00000340438.4	+	1	1874	c.1632C>A	c.(1630-1632)caC>caA	p.H544Q		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	544					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					CGGTGCTGCACATTCATACTT	0.423000													47	47					2.01872e-29	2.90755e-29	1	1	0
MDN1	23195	broad.mit.edu	37	6	90472244	90472244	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:90472244T>G	ENST00000369393.3	-	16	2265	c.2150A>C	c.(2149-2151)aAa>aCa	p.K717T	MDN1_ENST00000428876.1_Missense_Mutation_p.K717T			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	717					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTCCACCGGTTTATAACTGAA	0.408000													17	72					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23527713	23527713	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:23527713G>A	ENST00000296682.3	+	11	2698	c.2516G>A	c.(2515-2517)cGg>cAg	p.R839Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	839					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						GAGTGTGGGCGGGGCTTTCGC	0.592000										HNSCC(3;0.000094)			70	188					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129901414	129901414	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:129901414T>A	ENST00000368654.3	-	13	9065	c.8690A>T	c.(8689-8691)gAt>gTt	p.D2897V	MKI67_ENST00000368653.3_Missense_Mutation_p.D2537V	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2897	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCCAATTACATCTTCTGCGTC	0.557000													67	264					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91763774	91763774	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:91763774C>T	ENST00000389857.6	-	22	3927	c.3841G>A	c.(3841-3843)Gag>Aag	p.E1281K		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1281					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GTTTTCAGCTCCTTGGTGTGG	0.597000													5	6					0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28338240	28338240	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr21:28338240C>A	ENST00000284987.5	-	1	592	c.471G>T	c.(469-471)gcG>gcT	p.A157A		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	157					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CGTGCTTGACCGCGAAGAAGC	0.662000													9	44					0.00448238	0.00469313	1	1	0
SCAND3	114821	broad.mit.edu	37	6	28547174	28547174	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:28547174T>G	ENST00000452236.2	-	2	1060	c.443A>C	c.(442-444)cAg>cCg	p.Q148P	SCAND3_ENST00000530247.1_5'UTR	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	148					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						AGAAACTTCCTGCCCATATGT	0.408000													20	136					0	0	1	0	0
PCMTD1	115294	broad.mit.edu	37	8	52733170	52733170	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:52733170G>C	ENST00000360540.5	-	7	1221	c.815C>G	c.(814-816)gCt>gGt	p.A272G	PCMTD1_ENST00000544451.1_Missense_Mutation_p.A196G|PCMTD1_ENST00000522514.1_Missense_Mutation_p.A272G|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	272						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TTTGGGTGGAGCCCTTTGAGG	0.423000													37	320					0	0	1	0	0
FHL5	9457	broad.mit.edu	37	6	97051592	97051592	+	Missense_Mutation	SNP	C	C	A	rs138154376		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:97051592C>A	ENST00000326771.2	+	3	483	c.103C>A	c.(103-105)Cgt>Agt	p.R35S	FHL5_ENST00000541107.1_Missense_Mutation_p.R35S	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	35			R -> H (in dbSNP:rs35157931).			nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		ATGTTATGATCGTGTATTTTC	0.368000													47	100					3.05275e-18	4.10102e-18	1	1	0
MAB21L1	4081	broad.mit.edu	37	13	36049804	36049804	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:36049804C>T	ENST00000379919.4	-	1	1028	c.472G>A	c.(472-474)Gtg>Atg	p.V158M	NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000400445.3_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	158					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CTCAGTTTCACTTCGCTGGTG	0.572000													35	56					0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52526337	52526337	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:52526337G>A	ENST00000345716.4	+	21	4488	c.4354G>A	c.(4354-4356)Ggg>Agg	p.G1452R	NISCH_ENST00000479054.1_Missense_Mutation_p.G1452R	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	1452					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		GGACCACTTTGGGGAGGTGCC	0.617000													166	160					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118198938	118198938	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:118198938C>T	ENST00000425217.1	-	4	831	c.777G>A	c.(775-777)ccG>ccA	p.P259P	KSR2_ENST00000339824.5_Silent_p.P288P	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	288	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGGGGTCCCCGGGGGCTTCA	0.682000													70	425					0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81650821	81650821	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:81650821A>T	ENST00000558726.1	-	6	657	c.522T>A	c.(520-522)ttT>ttA	p.F174L	RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.F174L|RP11-761I4.3_ENST00000559781.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	174						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CTGTGCTTCCAAAGGGCTGGC	0.567000													8	30					0	0	1	0	0
TBPL1	9519	broad.mit.edu	37	6	134305618	134305618	+	Splice_Site	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:134305618G>A	ENST00000237264.4	+	5	661		c.e5+1		TBPL1_ENST00000477527.1_Splice_Site|TBPL1_ENST00000367871.1_Splice_Site	NM_001253676.1|NM_004865.3	NP_001240605.1|NP_004856.1	P62380	TBPL1_HUMAN	TBP-like 1						regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	cytoplasm	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	6	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848)		CTCATGCCAGGTAAGTCTTTG	0.318000													19	58					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65181244	65181244	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr18:65181244C>G	ENST00000310045.7	-	2	2105	c.632G>C	c.(631-633)tGg>tCg	p.W211S	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	201						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)				AGTAATAACCCATATTTTTTC	0.383000													41	38					0	0	1	0	0
C2orf44	80304	broad.mit.edu	37	2	24255744	24255744	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:24255744T>C	ENST00000295148.4	-	3	1948	c.1891A>G	c.(1891-1893)Aca>Gca	p.T631A	C2orf44_ENST00000406895.3_Intron	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	631							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGAACTGTACTGAGCCTT	0.408000			T	ALK	NSCLC								39	177					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83351277	83351277	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:83351277C>T	ENST00000262752.2	-	20	1903	c.1896G>A	c.(1894-1896)gaG>gaA	p.E632E	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Silent_p.E632E	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	632	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GCAGCAGTATCTCTTCAGGAG	0.358000													21	20					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7038870	7038870	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr18:7038870G>C	ENST00000389658.3	-	11	1595	c.1502C>G	c.(1501-1503)tCc>tGc	p.S501C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	501	Laminin EGF-like 4.				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)	GAAGCACTCGGAGCAGCCCCG	0.537000													105	365					0	0	1	0	0
ZNF720	124411	broad.mit.edu	37	16	31733987	31733987	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:31733987G>T	ENST00000316491.9	+	2	243	c.44G>T	c.(43-45)cGg>cTg	p.R15L	ZNF720_ENST00000531864.2_Intron|ZNF720_ENST00000539915.1_Intron|ZNF720_ENST00000534369.1_Intron|ZNF720_ENST00000398696.3_Intron|ZNF720_ENST00000399681.3_5'UTR	NM_001130913.1	NP_001124385.1	Q7Z2F6	ZN720_HUMAN	zinc finger protein 720	15	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding			endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						GAATTCTCTCGGGAGGAGTGG	0.458000													31	123					9.85913e-13	1.22236e-12	1	1	0
NPHS1	4868	broad.mit.edu	37	19	36321757	36321757	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:36321757C>T	ENST00000378910.5	-	28	3582	c.3583G>A	c.(3583-3585)Gaa>Aaa	p.E1195K	NPHS1_ENST00000353632.6_Missense_Mutation_p.E1155K	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1195	Binds to NPHS2.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATCTGCACTTCATCGTAGAGG	0.527000													51	187					0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30883198	30883198	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:30883198G>A	ENST00000251071.5	-	7	1829	c.1079C>T	c.(1078-1080)gCc>gTc	p.A360V	CAPRIN2_ENST00000308433.5_Missense_Mutation_p.A27V|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.A360V|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.A360V|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.A360V	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	360					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTCTGGCTGGGCAAATTCCAT	0.363000													6	544					0	0	1	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150129588	150129588	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:150129588G>C	ENST00000369124.4	+	5	711	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	PLEKHO1_ENST00000369126.1_Intron|PLEKHO1_ENST00000025469.6_Intron|PLEKHO1_ENST00000479194.1_3'UTR	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	145	Interaction with ATM, CKIP, IFP35 and NMI.|Interaction with capping proteins (CPs).					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGTCACCGTTGAGGAGGACAG	0.557000													20	88					0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4442815	4442815	+	Silent	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:4442815C>G	ENST00000254718.4	-	26	4188	c.3882G>C	c.(3880-3882)gcG>gcC	p.A1294A	MYBBP1A_ENST00000381556.2_Silent_p.A1294A			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1294	Required for nuclear and nucleolar localization (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TCCGTGCCAGCGCGGACAGTG	0.582000													92	398					0	0	1	0	0
CXorf57	55086	broad.mit.edu	37	X	105855463	105855463	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:105855463G>A	ENST00000372548.4	+	1	262	c.153G>A	c.(151-153)gaG>gaA	p.E51E	CXorf57_ENST00000372544.2_Silent_p.E51E	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	51										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						AGGTTCTTGAGCAGATTATGG	0.607000													48	43					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166987197	166987197	+	Splice_Site	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:166987197G>T	ENST00000367872.4	+	10	1285		c.e10+1		MAEL_ENST00000491055.1_Splice_Site|MAEL_ENST00000367870.2_Splice_Site	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer						cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GCGTTACCAGGTAAGGAACTG	0.443000													44	100					5.2432e-18	7.01112e-18	1	1	0
ZNF410	57862	broad.mit.edu	37	14	74371737	74371737	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:74371737G>A	ENST00000555044.1	+	7	1058	c.864G>A	c.(862-864)aaG>aaA	p.K288K	ZNF410_ENST00000324593.6_Silent_p.K288K|ZNF410_ENST00000412490.3_3'UTR|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000540593.1_Silent_p.K215K|ZNF410_ENST00000442160.3_Silent_p.K305K|ZNF410_ENST00000334521.4_Silent_p.K235K	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		GCTGTGGTAAGCAGTTTACTA	0.527000													24	97					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137206698	137206698	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:137206698G>C	ENST00000453654.1	-	21	1801	c.1262C>G	c.(1261-1263)cCa>cGa	p.P421R	DGKI_ENST00000288490.5_Missense_Mutation_p.P721R|DGKI_ENST00000446122.1_Missense_Mutation_p.P721R|DGKI_ENST00000424189.2_Missense_Mutation_p.P742R			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	721	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CAGACGATCTGGGACAGACTG	0.458000													15	46					0	0	1	0	0
TMEM165	55858	broad.mit.edu	37	4	56283406	56283406	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:56283406G>C	ENST00000381334.5	+	3	834	c.601G>C	c.(601-603)Gat>Cat	p.D201H	TMEM165_ENST00000542052.1_Missense_Mutation_p.D138H|TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000506198.1_Intron	NM_018475.3	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	201						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			AAAGAAGAAAGATGAAGAAGT	0.438000													26	118					0	0	1	0	0
ZNF18	7566	broad.mit.edu	37	17	11895761	11895761	+	Splice_Site	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:11895761C>T	ENST00000322748.3	-	4	990	c.387_splice	c.e4+1	p.W129_splice	ZNF18_ENST00000580613.1_Splice_Site_p.W78_splice|ZNF18_ENST00000454073.3_Splice_Site_p.W129_splice|ZNF18_ENST00000580306.1_Splice_Site_p.W129_splice	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	129					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		TCTGCTTACCCATTGCCACAG	0.507000													44	79					0	0	1	0	0
FAM227B	196951	broad.mit.edu	37	15	49869035	49869035	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:49869035C>A	ENST00000299338.6	-	7	752	c.449G>T	c.(448-450)aGc>aTc	p.S150I	FAM227B_ENST00000558594.1_3'UTR|FAM227B_ENST00000561064.1_Missense_Mutation_p.S150I|FAM227B_ENST00000560246.1_3'UTR	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		TCCTGTGAAGCTGCAACCCTA	0.328000													18	27					3.52763e-06	3.84651e-06	1	1	0
CPED1	79974	broad.mit.edu	37	7	120764512	120764512	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:120764512C>A	ENST00000310396.5	+	8	1513	c.1046C>A	c.(1045-1047)cCa>cAa	p.P349Q	CPED1_ENST00000450913.2_Missense_Mutation_p.P349Q|CPED1_ENST00000423795.1_Missense_Mutation_p.P129Q	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		ACTCTGGGACCAAAGACCTTC	0.343000													23	79					6.32553e-13	7.87631e-13	1	1	0
ZFAT	57623	broad.mit.edu	37	8	135521873	135521873	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:135521873C>A	ENST00000520727.1	-	16	3744	c.3445G>T	c.(3445-3447)Gtg>Ttg	p.V1149L	ZFAT_ENST00000523399.1_Missense_Mutation_p.V1099L|ZFAT_ENST00000520214.1_Missense_Mutation_p.V1149L|ZFAT_ENST00000377838.3_Missense_Mutation_p.V1161L|ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000429442.2_Intron	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGCTTAACCACAGTCACCGTC	0.542000													4	212					1	1	1	1	0
PPIP5K2	23262	broad.mit.edu	37	5	102491630	102491630	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:102491630G>A	ENST00000321521.9	+	14	1994	c.1421G>A	c.(1420-1422)gGa>gAa	p.G474E	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.G474E|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.G474E|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	474					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CATTTTTCTGGAATAAATCGT	0.333000													18	34					0	0	1	0	0
MEF2C	4208	broad.mit.edu	37	5	88027668	88027668	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:88027668C>T	ENST00000504921.2	-	7	1360	c.688G>A	c.(688-690)Ggt>Agt	p.G230S	MEF2C_ENST00000514028.1_Missense_Mutation_p.G230S|MEF2C_ENST00000437473.2_Missense_Mutation_p.G230S|MEF2C_ENST00000510942.1_Missense_Mutation_p.G230S|MEF2C_ENST00000508569.1_Missense_Mutation_p.G230S|MEF2C_ENST00000424173.2_Missense_Mutation_p.G228S|MEF2C_ENST00000340208.5_Missense_Mutation_p.G248S|MEF2C_ENST00000539796.1_Missense_Mutation_p.G182S|MEF2C_ENST00000506554.1_Missense_Mutation_p.G230S|MEF2C_ENST00000514015.1_Missense_Mutation_p.G230S			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	230					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TTCAAGTTACCAGGTGAGACC	0.423000										HNSCC(66;0.2)			10	36					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106987308	106987308	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:106987308G>A	ENST00000369066.3	+	7	4012	c.3525G>A	c.(3523-3525)caG>caA	p.Q1175Q		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1175	Beta/gamma crystallin 'Greek key' 4.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CTGGATTTCAGGGTGTTCCTT	0.453000													41	188					0	0	1	0	0
HIST2H2BB	338391	broad.mit.edu	37	1	149376722	149376722	+	RNA	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:149376722T>A	ENST00000415338.1	-	0	1061																											TCCCCACTCCTGGGGGGAATC	0.522000													34	61					0	0	1	0	0
DDX53	168400	broad.mit.edu	37	X	23019337	23019337	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:23019337C>T	ENST00000327968.5	+	1	1251	c.1163C>T	c.(1162-1164)cCc>cTc	p.P388L	RP11-40F8.2_ENST00000455399.1_RNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	388	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GAATTTGAACCCCAGATAAGG	0.403000													44	84					0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25935022	25935022	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:25935022C>A	ENST00000398988.3	+	17	2177	c.1732C>A	c.(1732-1734)Cag>Aag	p.Q578K	KSR1_ENST00000509603.2_Missense_Mutation_p.Q693K|KSR1_ENST00000319524.6_Missense_Mutation_p.Q715K|KSR1_ENST00000268763.6_Missense_Mutation_p.Q578K	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	713					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GCAAATCGCTCAGGAGATCAT	0.607000													5	6					0.184627	0.186561	1	1	0
ACADS	35	broad.mit.edu	37	12	121175737	121175737	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:121175737G>C	ENST00000242592.4	+	5	721	c.570G>C	c.(568-570)tgG>tgC	p.W190C	ACADS_ENST00000411593.2_Intron	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	190						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	CCAATGCCTGGGAGGCTTCGG	0.642000													29	82					0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71942179	71942179	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:71942179G>A	ENST00000541756.1	+	12	1647	c.717G>A	c.(715-717)tgG>tgA	p.W239*	INPPL1_ENST00000538751.1_Nonsense_Mutation_p.W239*|INPPL1_ENST00000298229.2_Nonsense_Mutation_p.W481*			O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	481					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ACCGCGAGTGGCTGGACCTAC	0.617000													158	263					0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	58917324	58917324	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:58917324G>A	ENST00000423743.3	+	9	1115	c.857G>A	c.(856-858)aGt>aAt	p.S286N	KIAA0586_ENST00000261244.5_Missense_Mutation_p.S330N|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000556134.1_Missense_Mutation_p.S315N|KIAA0586_ENST00000354386.6_Missense_Mutation_p.S383N	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	330										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAAGATACGAGTTTTGATAAA	0.328000													16	33					0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29408401	29408401	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:29408401C>A	ENST00000444197.2	+	1	1319	c.609C>A	c.(607-609)gcC>gcA	p.A203A	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGGCAACAGCCCTCCTCATCC	0.577000													121	238					2.75219e-45	4.23808e-45	1	1	0
VAMP1	6843	broad.mit.edu	37	12	6575058	6575058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:6575058C>A	ENST00000361716.3	-	3	693	c.238G>T	c.(238-240)Gag>Tag	p.E80*	VAMP1_ENST00000400911.3_Nonsense_Mutation_p.E80*|VAMP1_ENST00000396308.3_Nonsense_Mutation_p.E80*|VAMP1_ENST00000535180.1_Nonsense_Mutation_p.E80*|TAPBPL_ENST00000545700.1_3'UTR|VAMP1_ENST00000544432.1_5'UTR			P23763	VAMP1_HUMAN	vesicle-associated membrane protein 1 (synaptobrevin 1)	80	v-SNARE coiled-coil homology.				neurotransmitter secretion|vesicle-mediated transport	cell junction|endocytic vesicle membrane|integral to plasma membrane|mitochondrial outer membrane|synaptic vesicle membrane|synaptosome	protein binding	p.E80*(1)		endometrium(1)|large_intestine(1)|prostate(1)	3					Botulinum Toxin Type B(DB00042)	GCACTGCTCTCAAATTGTGAT	0.512000											OREG0021627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	106					1	1	1	1	0
DMAP1	55929	broad.mit.edu	37	1	44685699	44685699	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:44685699G>A	ENST00000372289.2	+	9	1325	c.1062G>A	c.(1060-1062)ccG>ccA	p.P354P	DMAP1_ENST00000315913.5_Silent_p.P354P|DMAP1_ENST00000488433.1_3'UTR|DMAP1_ENST00000361745.6_Silent_p.P354P	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	354					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					AGCTGAGCCCGACACCTACGG	0.622000													7	42					0	0	1	0	0
ACTC1	70	broad.mit.edu	37	15	35085611	35085611	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:35085611G>C	ENST00000290378.4	-	3	944	c.289C>G	c.(289-291)Cgt>Ggt	p.R97G	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	97			R -> C (in CMH11).		apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GGAGCCACACGGAGCTCATTG	0.562000													72	119					0	0	1	0	0
TMEM165	55858	broad.mit.edu	37	4	56283323	56283323	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:56283323G>C	ENST00000381334.5	+	3	751	c.518G>C	c.(517-519)aGa>aCa	p.R173T	TMEM165_ENST00000542052.1_Missense_Mutation_p.R110T|TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000506198.1_Intron	NM_018475.3	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	173						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			TTTGGCATTAGAATGCTTCGG	0.398000													37	178					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711622	140711622	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140711622C>A	ENST00000517417.1	+	1	1371	c.1371C>A	c.(1369-1371)taC>taA	p.Y457*	PCDHGA1_ENST00000378105.3_Nonsense_Mutation_p.Y457*	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGACTCCTACTCTGCCTACA	0.478000													38	103					1.04352e-10	1.24576e-10	1	1	0
TRPV5	56302	broad.mit.edu	37	7	142605970	142605970	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:142605970C>T	ENST00000265310.1	-	15	2248	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	634					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TTGTGGTTCTCAACCCTGATA	0.502000													33	82					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81620521	81620521	+	Silent	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:81620521A>T	ENST00000356860.3	-	21	2114	c.1776T>A	c.(1774-1776)ccT>ccA	p.P592P	CACNA2D1_ENST00000356253.5_Silent_p.P611P	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	611						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TGCCATTGACAGGTGTCCATG	0.303000													16	105					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147844745	147844745	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:147844745G>C	ENST00000361727.3	+	17	3233	c.2717G>C	c.(2716-2718)cGc>cCc	p.R906P	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	906	Laminin G-like 3.		R -> H.		behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGCAGATCCGCAAGGCCCCA	0.557000										HNSCC(39;0.1)			35	79					0	0	1	0	0
ETFA	2108	broad.mit.edu	37	15	76588079	76588079	+	Splice_Site	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:76588079C>A	ENST00000557943.1	-	2	120		c.e2-1		ETFA_ENST00000433983.2_Intron|ETFA_ENST00000559602.1_Intron|ETFA_ENST00000560726.1_Intron	NM_000126.3	NP_000117.1	P13804	ETFA_HUMAN	electron-transfer-flavoprotein, alpha polypeptide						respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						GCAATGAGGCCTAAAAAGAGC	0.353000													16	49					6.94344e-10	8.18789e-10	1	1	0
PROSER1	80209	broad.mit.edu	37	13	39597214	39597214	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:39597214G>A	ENST00000352251.3	-	8	1451	c.618C>T	c.(616-618)tgC>tgT	p.C206C	PROSER1_ENST00000484434.2_Intron|PROSER1_ENST00000350125.3_Silent_p.C184C	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	206	Pro-rich.																CATGTGGTCGGCATGGAGGTA	0.358000													4	134					0	0	1	0	0
RUNX3	864	broad.mit.edu	37	1	25254161	25254161	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:25254161C>A	ENST00000399916.1	-	3	823	c.385G>T	c.(385-387)Gag>Tag	p.E129*	RUNX3_ENST00000338888.3_Nonsense_Mutation_p.E129*|RUNX3_ENST00000308873.6_Nonsense_Mutation_p.E115*|RUNX3_ENST00000540420.1_Nonsense_Mutation_p.E22*|RUNX3_ENST00000496967.1_5'UTR	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	115	Runt.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GAGTAGTTCTCGTCATTGCCT	0.627000													78	203					1.40941e-23	1.98069e-23	1	1	0
BCLAF1	9774	broad.mit.edu	37	6	136596736	136596736	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:136596736G>T	ENST00000531224.1	-	6	2038	c.1786C>A	c.(1786-1788)Cag>Aag	p.Q596K	BCLAF1_ENST00000392348.2_Missense_Mutation_p.Q594K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.Q594K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.Q423K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.Q596K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.Q594K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	596					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)		TTGCTGGCCTGTGGCAACTTA	0.398000													19	289					7.41877e-09	8.55671e-09	1	1	0
HSPA13	6782	broad.mit.edu	37	21	15748099	15748099	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr21:15748099C>A	ENST00000285667.3	-	4	689	c.622G>T	c.(622-624)Gct>Tct	p.A208S	HSPA13_ENST00000544452.1_5'UTR	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	208						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TAGGCCATAGCTGCTGCTGTG	0.443000													50	94					1.63038e-21	2.23165e-21	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1271606	1271606	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:1271606C>A	ENST00000447027.1	+	31	13563	c.13505C>A	c.(13504-13506)tCc>tAc	p.S4502Y	MUC5B_ENST00000529681.1_Missense_Mutation_p.S4499Y			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4499	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTCCCTCCTCCAGTCCAGGG	0.642000													77	119					3.71121e-27	5.30565e-27	1	1	0
SERPINB2	5055	broad.mit.edu	37	18	61569789	61569789	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr18:61569789C>A	ENST00000457692.1	+	8	1163	c.830C>A	c.(829-831)aCt>aAt	p.T277N	SERPINB2_ENST00000299502.4_Missense_Mutation_p.T277N	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	277					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GATGTGTCCACTGGCTTGGAG	0.418000													83	96					7.49063e-41	1.14435e-40	1	1	0
SLC6A5	9152	broad.mit.edu	37	11	20673942	20673942	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:20673942C>T	ENST00000525748.1	+	15	2451	c.2178C>T	c.(2176-2178)gtC>gtT	p.V726V	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	726					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CCTGTTCCGTCATCTGGATCC	0.473000													49	267					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22387106	22387106	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:22387106G>T	ENST00000263160.3	+	7	1199	c.762G>T	c.(760-762)atG>atT	p.M254I		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	254					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GCTTTGGAATGGTCTGGTACA	0.398000													40	130					4.92203e-23	6.85061e-23	1	1	0
PCDHB12	56124	broad.mit.edu	37	5	140589727	140589727	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140589727G>A	ENST00000239450.2	+	1	1437	c.1248G>A	c.(1246-1248)gaG>gaA	p.E416E	PCDHB12_ENST00000541609.1_Silent_p.E79E	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		416	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGAGCCGAGTACAACATCA	0.522000													18	60					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48356867	48356867	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:48356867C>T	ENST00000435803.1	+	27	9997	c.9973C>T	c.(9973-9975)Cca>Tca	p.P3325S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3325					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACCAAACACTCCAGAAATTAA	0.333000													8	50					0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39135036	39135036	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:39135036C>T	ENST00000351578.6	-	8	1786	c.1596G>A	c.(1594-1596)aaG>aaA	p.K532K	FYB_ENST00000540520.1_Silent_p.K542K|FYB_ENST00000512982.1_Silent_p.K532K|FYB_ENST00000515010.1_Silent_p.K532K|FYB_ENST00000505428.1_Silent_p.K532K	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	532	SH3.				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GCTCTCCTTGCTTGAAGCTCA	0.423000													60	85					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81610681	81610681	+	Splice_Site	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:81610681G>T	ENST00000548058.1	+	10	2266	c.1354_splice	c.e10-1	p.E452_splice	ACSS3_ENST00000548324.1_Splice_Site_p.E134_splice|ACSS3_ENST00000261206.3_Splice_Site_p.E451_splice			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	452						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TTTTTCCAGAGACTGGATCTC	0.408000													20	92					8.04996e-18	1.07395e-17	1	1	0
PCDHB6	56130	broad.mit.edu	37	5	140531310	140531310	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140531310C>A	ENST00000231136.1	+	1	1472	c.1472C>A	c.(1471-1473)cCc>cAc	p.P491H	PCDHB6_ENST00000543635.1_Missense_Mutation_p.P355H	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		491	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGCTGCCGCCCCAGGACCCG	0.657000													17	118					4.35082e-09	5.07888e-09	1	1	0
TMEM105	284186	broad.mit.edu	37	17	79287662	79287662	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:79287662G>A	ENST00000332900.1	-	3	728	c.179C>T	c.(178-180)cCa>cTa	p.P60L		NM_178520.3	NP_848615.1	Q8N8V8	TM105_HUMAN	transmembrane protein 105	60						integral to membrane				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			AGACCGAGGTGGGGACCCCTG	0.632000													28	131					0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	72897871	72897871	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:72897871G>A	ENST00000308744.6	+	1	351	c.253G>A	c.(253-255)Gct>Act	p.A85T	NPFFR2_ENST00000344413.5_Missense_Mutation_p.A85T	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	85					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CTGCAGACGGGCTTGGTGGAT	0.672000													14	29					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1337387	1337387	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:1337387T>A	ENST00000446702.2	+	6	1184	c.557T>A	c.(556-558)gTg>gAg	p.V186E	CNTN6_ENST00000350110.2_Missense_Mutation_p.V186E|CNTN6_ENST00000539053.1_Missense_Mutation_p.V114E			Q9UQ52	CNTN6_HUMAN	contactin 6	186	Ig-like C2-type 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ATTGCCAAAGTGGAACCATCA	0.443000													21	70					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120462937	120462937	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:120462937G>C	ENST00000256646.2	-	30	5613	c.5394C>G	c.(5392-5394)gaC>gaG	p.D1798E		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1798					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTACGGATGTCTGCAGCTT	0.557000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				50	86					0	0	1	0	0
OR52W1	120787	broad.mit.edu	37	11	6220867	6220867	+	Silent	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:6220867T>A	ENST00000311352.2	+	1	492	c.414T>A	c.(412-414)ccT>ccA	p.P138P		NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCACTACCCTGTCCTGGTCA	0.537000													13	75					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69646438	69646438	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:69646438A>C	ENST00000370598.1	+	5	1717	c.896A>C	c.(895-897)cAg>cCg	p.Q299P		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	299	TSP type-1 1.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAGTGGTCCCAGTGGAGCACA	0.458000													19	26					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6661920	6661920	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:6661920C>G	ENST00000299441.3	-	2	1336	c.925G>C	c.(925-927)Gca>Cca	p.A309P		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	309	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCGTGTGTGCGTCGATGGAG	0.607000													38	81					0	0	1	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157130	26157130	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:26157130C>A	ENST00000325250.1	+	2	215	c.28C>A	c.(28-30)Cgt>Agt	p.R10S		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	10							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						GAGTAAGCTCCGTGCCCGTGA	0.542000													8	8					5.4927e-09	6.36055e-09	1	1	0
PROX1	5629	broad.mit.edu	37	1	214171345	214171345	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:214171345G>A	ENST00000366958.4	+	2	2075	c.1467G>A	c.(1465-1467)atG>atA	p.M489I	PROX1_ENST00000261454.4_Missense_Mutation_p.M489I|PROX1_ENST00000498508.2_Missense_Mutation_p.M489I|PROX1_ENST00000435016.1_Missense_Mutation_p.M489I	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	489					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TTCCCTTGATGGCCTATCCAT	0.602000													64	170					0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106209175	106209175	+	RNA	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:106209175G>T	ENST00000390548.2	-	0	233																											TGTAGGTCTGGGTGCCCAAGC	0.607000													41	61					7.77092e-38	1.17477e-37	1	1	0
CCDC171	203238	broad.mit.edu	37	9	15695323	15695323	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:15695323C>A	ENST00000380701.3	+	11	1634	c.1306C>A	c.(1306-1308)Cag>Aag	p.Q436K	CCDC171_ENST00000297641.3_Missense_Mutation_p.Q436K	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	436																	TGTGTCGGGCCAGTGGACATC	0.413000													58	47					6.26901e-30	9.07439e-30	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13792157	13792157	+	Silent	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:13792157A>G	ENST00000265104.4	-	50	8498	c.8394T>C	c.(8392-8394)tcT>tcC	p.S2798S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2798	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCCAGACCCGAGAAAGATCTC	0.413000									Kartagener syndrome				13	80					0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32933213	32933213	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:32933213G>A	ENST00000383763.4	+	4	2580	c.2517G>A	c.(2515-2517)ggG>ggA	p.G839G		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	839					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCGGCTTTGGGCAGATGGACC	0.547000													46	220					0	0	1	0	0
ZNF460	10794	broad.mit.edu	37	19	57803285	57803285	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:57803285G>T	ENST00000360338.3	+	3	1698	c.1376G>T	c.(1375-1377)cGg>cTg	p.R459L	ZNF460_ENST00000537645.1_Missense_Mutation_p.R418L	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCCTTTTGTCGGACCACAAAC	0.527000													21	98					3.8784e-16	5.00133e-16	1	1	0
ZMYND15	84225	broad.mit.edu	37	17	4646665	4646665	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:4646665G>C	ENST00000433935.1	+	6	1269	c.1212G>C	c.(1210-1212)tgG>tgC	p.W404C	ZMYND15_ENST00000573751.2_Missense_Mutation_p.W404C|ZMYND15_ENST00000592813.1_Missense_Mutation_p.W404C|ZMYND15_ENST00000269289.6_Missense_Mutation_p.W404C	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	404							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GTGGCTATTGGACCCAGCTCA	0.612000													139	270					0	0	1	0	0
ART1	417	broad.mit.edu	37	11	3681086	3681086	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:3681086G>A	ENST00000250693.1	+	3	438	c.337G>A	c.(337-339)Gag>Aag	p.E113K		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	113					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	CTTCCGCGATGAGCATGGGGT	0.682000													14	40					0	0	1	0	0
KHDC3L	154288	broad.mit.edu	37	6	74073333	74073333	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:74073333G>A	ENST00000370367.3	+	3	457	c.404G>A	c.(403-405)cGg>cAg	p.R135Q		NM_001017361.2	NP_001017361.1			KH domain containing 3-like, subcortical maternal complex member									p.R135Q(1)									GAGACCCAGCGGTCTTCAATA	0.637000													21	85					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88036203	88036203	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:88036203G>A	ENST00000307808.6	+	11	2617	c.2197G>A	c.(2197-2199)Gac>Aac	p.D733N	AFF1_ENST00000544085.1_Missense_Mutation_p.D371N|AFF1_ENST00000395146.4_Missense_Mutation_p.D740N	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	733						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GGTCCAGGAGGACAGCCGCAA	0.607000													16	30					0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177142615	177142615	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:177142615T>C	ENST00000296525.3	-	4	634	c.521A>G	c.(520-522)gAg>gGg	p.E174G	ASB5_ENST00000512254.1_Missense_Mutation_p.E121G	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	174					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ACTGGCGGCCTCATGCGTTGG	0.493000													42	219					0	0	1	0	0
ELK1	2002	broad.mit.edu	37	X	47497248	47497248	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:47497248C>A	ENST00000247161.3	-	4	1087	c.988G>T	c.(988-990)Ggg>Tgg	p.G330W	ELK1_ENST00000376983.3_Missense_Mutation_p.G330W|ELK1_ENST00000343894.4_Intron|ELK1_ENST00000592066.1_Missense_Mutation_p.G276W	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	330					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						GGTCCCGGCCCACCTAGCAGG	0.701000													3	2					0.004672	0.00486527	1	1	0
UNC13C	440279	broad.mit.edu	37	15	54307972	54307972	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:54307972C>T	ENST00000545554.1	+	1	2872	c.2872C>T	c.(2872-2874)Cag>Tag	p.Q958*	UNC13C_ENST00000260323.11_Nonsense_Mutation_p.Q958*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.Q958*			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	958					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CATTCCTGAACAGCCAGTGGA	0.403000													4	21					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83333627	83333627	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:83333627G>T	ENST00000261722.3	-	17	2247	c.2040C>A	c.(2038-2040)gaC>gaA	p.D680E	AP3B2_ENST00000535359.1_Missense_Mutation_p.D699E|AP3B2_ENST00000535348.1_Missense_Mutation_p.D648E|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	680	Glu/Ser-rich.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCCCCTCAGAGTCCGAGTAGA	0.567000													3	21					0.004672	0.00486527	1	1	0
MCTP1	79772	broad.mit.edu	37	5	94619883	94619883	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:94619883C>A	ENST00000515393.1	-	1	396	c.397G>T	c.(397-399)Gta>Tta	p.V133L		NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	133					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)		GGCCCCTTTACGGCGGGGAGC	0.746000													4	5					1.23904e-05	1.34597e-05	1	1	0
DAB1	1600	broad.mit.edu	37	1	57528566	57528566	+	Missense_Mutation	SNP	T	T	A	rs148730065	by1000genomes	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:57528566T>A	ENST00000371236.2	-	9	977	c.714A>T	c.(712-714)caA>caT	p.Q238H	DAB1_ENST00000414851.2_Missense_Mutation_p.Q203H|DAB1_ENST00000371231.1_Missense_Mutation_p.Q238H|DAB1_ENST00000420954.2_Missense_Mutation_p.Q203H|DAB1_ENST00000439789.2_Missense_Mutation_p.Q119H|DAB1_ENST00000371234.4_Missense_Mutation_p.Q238H|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	238					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CACTTACAGGTTGACTTTTTG	0.463000													24	90					0	0	1	0	0
CNST	163882	broad.mit.edu	37	1	246805333	246805333	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:246805333G>A	ENST00000366513.4	+	8	1200	c.931G>A	c.(931-933)Gag>Aag	p.E311K	CNST_ENST00000366512.3_Missense_Mutation_p.E311K|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	311					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TACCACCAAAGAGTCAGGTAT	0.418000													8	32					0	0	1	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789752	6789752	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:6789752G>T	ENST00000338569.2	-	1	534	c.437C>A	c.(436-438)gCc>gAc	p.A146D		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCAGGATGTGGCCACCATGAT	0.507000													42	58					6.07928e-31	8.84397e-31	1	1	0
OR4K2	390431	broad.mit.edu	37	14	20344521	20344521	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:20344521C>T	ENST00000298642.2	+	1	131	c.95C>T	c.(94-96)tCa>tTa	p.S32L		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGGTGTTTTCATTGCTTTAT	0.413000													188	525					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100625372	100625372	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:100625372C>T	ENST00000317233.4	-	4	311	c.76G>A	c.(76-78)Gca>Aca	p.A26T	AFF3_ENST00000409579.1_Missense_Mutation_p.A51T|AFF3_ENST00000356421.2_Missense_Mutation_p.A51T|AFF3_ENST00000409236.1_Missense_Mutation_p.A26T	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	26					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CTCCGTAATGCATTTCTATCT	0.398000													8	29					0	0	1	0	0
TTC39A	22996	broad.mit.edu	37	1	51768088	51768088	+	Splice_Site	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:51768088C>A	ENST00000262676.5	-	11	1088	c.927_splice	c.e11-1	p.G310_splice	TTC39A_ENST00000451380.1_Splice_Site_p.G278_splice|TTC39A_ENST00000413473.2_Splice_Site_p.G282_splice|TTC39A_ENST00000447632.2_Splice_Site_p.G314_splice|TTC39A_ENST00000371750.5_Splice_Site_p.G279_splice|TTC39A_ENST00000262675.7_Splice_Site_p.G251_splice|TTC39A_ENST00000371747.3_Splice_Site_p.G313_splice			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	314							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						AAGATGGCACCCTGCAATGAC	0.592000													3	23					2.56e-06	2.80197e-06	1	1	0
SLC39A12	221074	broad.mit.edu	37	10	18250541	18250541	+	Missense_Mutation	SNP	C	C	A	rs150700069		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:18250541C>A	ENST00000377369.2	+	3	566	c.293C>A	c.(292-294)gCt>gAt	p.A98D	SLC39A12_ENST00000539911.1_5'UTR|SLC39A12_ENST00000377371.3_Missense_Mutation_p.A98D|SLC39A12_ENST00000377374.4_Missense_Mutation_p.A98D	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	98					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TTACTAATAGCTGGAGGAAAT	0.358000													89	84					6.31949e-53	9.8096e-53	1	1	0
ZFYVE28	57732	broad.mit.edu	37	4	2306406	2306406	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:2306406G>T	ENST00000290974.2	-	8	2000	c.1661C>A	c.(1660-1662)aCt>aAt	p.T554N	ZFYVE28_ENST00000515312.1_Missense_Mutation_p.T484N|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.T524N|RP11-478C1.7_ENST00000510632.1_RNA	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	554					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GGTGGCCCCAGTGCTAAGCTT	0.687000													7	51					7.48243e-07	8.2678e-07	1	1	0
PEG3	5178	broad.mit.edu	37	19	57327145	57327145	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:57327145G>T	ENST00000326441.9	-	10	3028	c.2665C>A	c.(2665-2667)Cgc>Agc	p.R889S	PEG3_ENST00000423103.2_Missense_Mutation_p.R889S|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R765S|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R763S|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	889					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCATAGTTGCGATTCTTACTG	0.443000													26	128					3.7963e-18	5.0881e-18	1	1	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:45128812C>T	ENST00000575173.1	-	0	418																											AGTCCTGTTTCTGTGTGGATT	0.373000													3	43					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11144002	11144002	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:11144002C>A	ENST00000358026.2	+	26	3867	c.3583C>A	c.(3583-3585)Cag>Aag	p.Q1195K	SMARCA4_ENST00000541122.2_Missense_Mutation_p.Q1195K|SMARCA4_ENST00000429416.3_Missense_Mutation_p.Q1195K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.Q1195K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.Q1195K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.Q1195K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.Q1195K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.Q1195K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.Q1195K	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1195	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGCATCGGGCAGCAGAACGA	0.612000			"""F, N, Mis"""		NSCLC								27	107					6.32553e-13	7.87631e-13	1	1	0
SLC22A6	9356	broad.mit.edu	37	11	62751493	62751493	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:62751493G>A	ENST00000377871.3	-	2	662	c.396C>T	c.(394-396)gcC>gcT	p.A132A	SLC22A6_ENST00000360421.4_Silent_p.A132A|SLC22A6_ENST00000421062.2_Silent_p.A132A|SLC22A6_ENST00000458333.2_Silent_p.A132A	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	132					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCTGGCGTAGGGCCCTGTGAG	0.617000													19	18					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325172	79325172	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:79325172G>T	ENST00000428286.1	-	8	2141	c.941C>A	c.(940-942)tCc>tAc	p.S314Y	PRUNE2_ENST00000376718.3_Missense_Mutation_p.S673Y			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	673					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTGTTCACTGGAACTCCACGC	0.493000													72	57					2.84776e-26	4.05123e-26	1	1	0
DPP10	57628	broad.mit.edu	37	2	115200370	115200370	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:115200370C>A	ENST00000410059.1	+	1	495	c.15C>A	c.(13-15)gcC>gcA	p.A5A		NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	5	Mediates effects on KCND2.				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ACCAAACTGCCAGCGTGTCCC	0.468000													15	47					3.32936e-07	3.72143e-07	1	1	0
TPTE	7179	broad.mit.edu	37	21	10944708	10944708	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr21:10944708A>G	ENST00000298232.7	-	10	839	c.472T>C	c.(472-474)Tac>Cac	p.Y158H	TPTE_ENST00000361285.4_Missense_Mutation_p.Y176H|TPTE_ENST00000342420.5_Missense_Mutation_p.Y138H|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	176					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)		AAAAAAATGTAAACGACATCA	0.294000													27	309					0	0	1	0	0
TCP10L2	401285	broad.mit.edu	37	6	167585706	167585706	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:167585706G>T	ENST00000366832.2	+	2	205	c.74G>T	c.(73-75)gGg>gTg	p.G25V		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	25										endometrium(1)|kidney(2)|lung(3)	6						CCGGGAGCTGGGGCTGCCATG	0.652000													13	24					1.02788e-11	1.2503e-11	1	1	0
EIF2AK1	27102	broad.mit.edu	37	7	6066485	6066485	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:6066485C>A	ENST00000199389.6	-	14	1784	c.1638G>T	c.(1636-1638)ccG>ccT	p.P546P	EIF2AK1_ENST00000536084.1_Silent_p.P422P	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	546	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		GGAGGGATTCCGGCAACTGAC	0.498000													66	122					2.19297e-23	3.0744e-23	1	1	0
SAMSN1	64092	broad.mit.edu	37	21	15870888	15870888	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr21:15870888T>C	ENST00000285670.2	-	8	1172	c.998A>G	c.(997-999)aAt>aGt	p.N333S	SAMSN1_ENST00000400564.1_Missense_Mutation_p.N97S|SAMSN1_ENST00000400566.1_Missense_Mutation_p.N265S|SAMSN1_ENST00000463807.1_5'UTR	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	265					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		CTCATAACCATTGAGCAAAAG	0.284000													35	101					0	0	1	0	0
PTER	9317	broad.mit.edu	37	10	16526679	16526679	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:16526679C>A	ENST00000378000.1	+	3	542	c.296C>A	c.(295-297)aCa>aAa	p.T99K	PTER_ENST00000535784.2_Missense_Mutation_p.T99K|PTER_ENST00000423462.2_Missense_Mutation_p.T99K|PTER_ENST00000298942.3_Missense_Mutation_p.T99K	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	99					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						GTGGAAAACACAACCACTGGG	0.443000													15	104					1.15088e-07	1.30148e-07	1	1	0
OR10Q1	219960	broad.mit.edu	37	11	57995542	57995542	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:57995542G>T	ENST00000316770.2	-	1	848	c.806C>A	c.(805-807)tCc>tAc	p.S269Y		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TGAGGTGCTGGACCGAGGACG	0.602000													26	31					4.72057e-08	5.38034e-08	1	1	0
SLC5A10	125206	broad.mit.edu	37	17	18862478	18862478	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:18862478G>T	ENST00000317977.6	+	3	617	c.46G>T	c.(46-48)Ggc>Tgc	p.G16C	SLC5A10_ENST00000417251.2_Missense_Mutation_p.G72C|SLC5A10_ENST00000395642.1_Missense_Mutation_p.G16C|SLC5A10_ENST00000395645.3_Missense_Mutation_p.G72C|SLC5A10_ENST00000395643.2_Missense_Mutation_p.G72C|SLC5A10_ENST00000395647.2_Missense_Mutation_p.G72C			A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	72					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CAGCAGCGAGGGCTCTGGCCT	0.652000													13	58					7.88262e-20	1.06388e-19	1	1	0
CACNA2D4	93589	broad.mit.edu	37	12	1995443	1995443	+	Silent	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:1995443G>T	ENST00000382722.5	-	8	1301	c.939C>A	c.(937-939)acC>acA	p.T313T	CACNA2D4_ENST00000586184.1_Silent_p.T313T|CACNA2D4_ENST00000585708.1_Silent_p.T249T|CACNA2D4_ENST00000588077.1_Silent_p.T249T|CACNA2D4_ENST00000587995.1_Silent_p.T313T|CACNA2D4_ENST00000585732.1_Intron	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	313	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TGGTGGTGATGGTGTGCTTGG	0.473000													11	79					7.03913e-09	8.13504e-09	1	1	0
APC2	10297	broad.mit.edu	37	19	1455209	1455209	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:1455209C>G	ENST00000535453.1	+	4	2188	c.475C>G	c.(475-477)Ctg>Gtg	p.L159V	APC2_ENST00000233607.2_Missense_Mutation_p.L159V|APC2_ENST00000238483.4_Missense_Mutation_p.L159V			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	159					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		CTACTCTCAGCTGCAGGGCCT	0.682000													8	14					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35065550	35065550	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:35065550C>A	ENST00000382002.5	-	10	1936	c.1510G>T	c.(1510-1512)Gct>Tct	p.A504S	PRLR_ENST00000513753.1_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.A403S|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.A403S	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	504					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAGGGTTTAGCGGAGCCAAAG	0.522000													72	160					4.14589e-37	6.21884e-37	1	1	0
PLEC	5339	broad.mit.edu	37	8	144994359	144994359	+	Silent	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:144994359C>G	ENST00000322810.4	-	32	10210	c.10041G>C	c.(10039-10041)ctG>ctC	p.L3347L	PLEC_ENST00000398774.2_Silent_p.L3178L|PLEC_ENST00000436759.2_Silent_p.L3237L|PLEC_ENST00000527096.1_Silent_p.L3233L|PLEC_ENST00000345136.3_Silent_p.L3210L|PLEC_ENST00000357649.2_Silent_p.L3214L|PLEC_ENST00000356346.3_Silent_p.L3196L|PLEC_ENST00000354958.2_Silent_p.L3188L|PLEC_ENST00000354589.3_Silent_p.L3210L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3347	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGAGAGCGGCAGCAGGCTCA	0.682000													5	45					0	0	1	0	0
RAB32	10981	broad.mit.edu	37	6	146865142	146865142	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:146865142C>G	ENST00000367495.3	+	1	314	c.135C>G	c.(133-135)taC>taG	p.Y45*		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	45					protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		TCAAGCGCTACGTCCACCAGC	0.672000													17	75					0	0	1	0	0
GEN1	348654	broad.mit.edu	37	2	17962415	17962415	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:17962415G>T	ENST00000381254.2	+	14	2150	c.1936G>T	c.(1936-1938)Gtg>Ttg	p.V646L	GEN1_ENST00000317402.7_Missense_Mutation_p.V646L|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	646					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CATAAAGAAAGTGTTGGATGA	0.393000								Homologous recombination					3	70					1	1	1	1	0
GAB4	128954	broad.mit.edu	37	22	17451084	17451084	+	Splice_Site	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr22:17451084C>G	ENST00000400588.1	-	4	794		c.e4-1		GAB4_ENST00000523144.1_Intron	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4											breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GCTGGCACTCCTAAGAGAGAG	0.557000													24	82					0	0	1	0	0
VIM	7431	broad.mit.edu	37	10	17275622	17275622	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:17275622G>C	ENST00000544301.1	+	4	1074	c.661G>C	c.(661-663)Gaa>Caa	p.E221Q	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000224237.5_Missense_Mutation_p.E221Q	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	221	Coil 1B.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCTTGACCTTGAACGCAAAGT	0.423000													60	81					0	0	1	0	0
PSMC5	5705	broad.mit.edu	37	17	61905529	61905529	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:61905529G>T	ENST00000310144.6	+	2	364	c.56G>T	c.(55-57)gGa>gTa	p.G19V	PSMC5_ENST00000375812.4_Missense_Mutation_p.G11V|PSMC5_ENST00000580864.1_Missense_Mutation_p.G11V|FTSJ3_ENST00000580295.1_Intron|PSMC5_ENST00000581882.1_Missense_Mutation_p.G11V	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	19					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						GCAGGCAGCGGACTCCGCCAA	0.542000													29	65					8.16721e-17	1.06987e-16	1	1	0
AMPH	273	broad.mit.edu	37	7	38431464	38431464	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:38431464T>A	ENST00000356264.2	-	19	1978	c.1763A>T	c.(1762-1764)cAg>cTg	p.Q588L	AMPH_ENST00000325590.5_Missense_Mutation_p.Q546L|AMPH_ENST00000428293.2_Missense_Mutation_p.Q546L	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	588					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GATAGGCTTCTGCTCCGTAGC	0.622000													24	30					0	0	1	0	0
CCT5	22948	broad.mit.edu	37	5	10262656	10262656	+	Missense_Mutation	SNP	G	G	A	rs11557654		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:10262656G>A	ENST00000280326.4	+	9	1663	c.1243G>A	c.(1243-1245)Gat>Aat	p.D415N	CCT5_ENST00000515676.1_Missense_Mutation_p.D377N|CCT5_ENST00000515390.1_Missense_Mutation_p.D360N|CCT5_ENST00000506600.1_Missense_Mutation_p.D322N|CCT5_ENST00000503026.1_Missense_Mutation_p.D394N	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	415					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						CCTCATCCGCGATAATCGTGT	0.493000													30	135					0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248636987	248636987	+	Silent	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:248636987G>T	ENST00000359594.2	+	1	361	c.336G>T	c.(334-336)ctG>ctT	p.L112L		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCTGACCCTGGCTGGAGCTG	0.547000													55	96					3.74213e-36	5.59869e-36	1	1	0
TAS1R3	83756	broad.mit.edu	37	1	1267466	1267466	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:1267466C>A	ENST00000339381.5	+	3	587	c.555C>A	c.(553-555)cgC>cgA	p.R185R		NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	185					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.R185R(1)		kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	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;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	CCTTCTTCCGCACCGTGCCCA	0.682000													35	70					7.04047e-22	9.68274e-22	1	1	0
MAFB	9935	broad.mit.edu	37	20	39317053	39317053	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr20:39317053C>A	ENST00000373313.2	-	1	827	c.438G>T	c.(436-438)ccG>ccT	p.P146P	MAFB_ENST00000396967.1_Silent_p.P146P	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	146					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				CGCCGGCGCCCGGGTACGCgt	0.716000			T	IGH@	MM								13	14					2.62699e-14	3.32102e-14	1	1	0
FPGT	8790	broad.mit.edu	37	1	74670366	74670366	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:74670366A>G	ENST00000370898.2	+	4	672	c.635A>G	c.(634-636)gAt>gGt	p.D212G	FPGT_ENST00000524915.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000534056.1_Intron|TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000370894.4_Intron|FPGT-TNNI3K_ENST00000557284.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron	NM_001199328.1|NM_003838.3	NP_001186257.1|NP_003829.2			fucose-1-phosphate guanylyltransferase											breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						GATCCTTTTGATGATTTAAAA	0.383000													3	198					0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	107862932	107862932	+	Splice_Site	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:107862932C>T	ENST00000375915.2	-	2	1225	c.1087_splice	c.e2+1	p.G363_splice		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	363						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGCACTGTACCTGTACAGATG	0.458000													29	51					0	0	1	0	0
FAM181A	90050	broad.mit.edu	37	14	94391523	94391523	+	Translation_Start_Site	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:94391523A>T	ENST00000267594.5	+	0	213				FAM181A_ENST00000557719.1_Intron|FAM181A-AS1_ENST00000554742.1_RNA	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A											cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						AGACAGCTTCATGAGCGGGCA	0.567000													3	3					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60905980	60905980	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr20:60905980C>G	ENST00000252999.3	-	30	3737	c.3671G>C	c.(3670-3672)cGc>cCc	p.R1224P		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1224	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTTGGGAAGCGCGAGGGCAG	0.721000													2	5					0	0	1	0	0
TNFRSF19	55504	broad.mit.edu	37	13	24233278	24233278	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:24233278G>A	ENST00000382263.3	+	6	719	c.535G>A	c.(535-537)Gcc>Acc	p.A179T	TNFRSF19_ENST00000403372.2_Missense_Mutation_p.A47T|TNFRSF19_ENST00000382258.4_Missense_Mutation_p.A179T|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.A179T	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	179					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		CAGCGCTCTGGCCACCGTCCT	0.552000													28	45					0	0	1	0	0
ZKSCAN8	7745	broad.mit.edu	37	6	28120855	28120855	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:28120855A>G	ENST00000330236.6	+	6	981	c.797A>G	c.(796-798)aAc>aGc	p.N266S	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.N266S	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2			zinc finger with KRAB and SCAN domains 8																		AGGAGTGAGAACAGGGAATTA	0.418000													17	112					0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46800982	46800982	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:46800982G>A	ENST00000230588.4	+	11	1325	c.1316G>A	c.(1315-1317)cGg>cAg	p.R439Q		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	439	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.R439Q(1)|p.R439L(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TGGACAGTCCGGAATTTCTCC	0.512000													32	103					0	0	1	0	0
TICAM1	148022	broad.mit.edu	37	19	4818041	4818041	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:4818041C>T	ENST00000248244.5	-	2	578	c.349G>A	c.(349-351)Gcc>Acc	p.A117T		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	117					apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TCCTGGTAGGCCACGTCCCGC	0.677000													17	80					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51732776	51732776	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:51732776G>C	ENST00000371117.3	-	48	7893	c.7618C>G	c.(7618-7620)Ctt>Gtt	p.L2540V	PKHD1_ENST00000340994.4_Missense_Mutation_p.L2540V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2540					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATAGAAGCAAGAATGTGACTT	0.438000													12	78					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150911327	150911327	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:150911327G>T	ENST00000474524.1	+	14	2057	c.2019G>T	c.(2017-2019)ttG>ttT	p.L673F	MED12L_ENST00000422248.2_Missense_Mutation_p.L673F|MED12L_ENST00000273432.4_Missense_Mutation_p.L533F|MED12L_ENST00000309237.4_Missense_Mutation_p.L708F	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	673					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACACTTCGTTGGGCAGAAGAA	0.388000													97	97					2.15199e-58	3.3585e-58	1	1	0
PDS5B	23047	broad.mit.edu	37	13	33344509	33344509	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:33344509G>T	ENST00000315596.10	+	32	4061	c.3875G>T	c.(3874-3876)cGa>cTa	p.R1292L		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1292					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AAAAGAGGCCGACCACCAAAA	0.418000													9	41					7.48243e-07	8.2678e-07	1	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110535590	110535590	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:110535590C>T	ENST00000378402.5	+	76	12563	c.12459C>T	c.(12457-12459)taC>taT	p.Y4153Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4153					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGGCCAACTACACAGACCTTA	0.393000										HNSCC(38;0.096)			58	75					0	0	1	0	0
OR2T34	127068	broad.mit.edu	37	1	248737450	248737450	+	Silent	SNP	G	G	T	rs148163660	byFrequency	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:248737450G>T	ENST00000328782.2	-	1	630	c.609C>A	c.(607-609)ctC>ctA	p.L203L		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACAGGTACGTGAGCATCTTAT	0.517000													68	324					6.09464e-36	9.09483e-36	1	1	0
ITGA6	3655	broad.mit.edu	37	2	173333907	173333907	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:173333907C>G	ENST00000375221.2	+	4	645	c.442C>G	c.(442-444)Cga>Gga	p.R148G	ITGA6_ENST00000264106.6_Missense_Mutation_p.R148G|ITGA6_ENST00000409532.1_Missense_Mutation_p.R34G|ITGA6_ENST00000409080.1_Missense_Mutation_p.R148G|ITGA6_ENST00000264107.7_Missense_Mutation_p.R148G|ITGA6_ENST00000343713.4_Missense_Mutation_p.R148G			P23229	ITA6_HUMAN	integrin, alpha 6	148					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GCAGGAATCCCGAGACATCTT	0.458000													56	374					0	0	1	0	0
FSTL1	11167	broad.mit.edu	37	3	120121736	120121736	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:120121736C>T	ENST00000295633.3	-	9	1080	c.724G>A	c.(724-726)Gat>Aat	p.D242N	FSTL1_ENST00000424703.2_Missense_Mutation_p.D207N	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	242	VWFC.				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		TCAGCTCCATCTGCATACGTT	0.537000													52	130					0	0	1	0	0
PNMA3	29944	broad.mit.edu	37	X	152225666	152225666	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:152225666A>G	ENST00000447306.1	+	2	590	c.254A>G	c.(253-255)aAg>aGg	p.K85R	PNMA3_ENST00000370265.4_Missense_Mutation_p.K85R|PNMA3_ENST00000370264.4_Missense_Mutation_p.K85R	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	85					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					ataccaggaaagggggggccc	0.527000													13	23					0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20198323	20198323	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:20198323C>A	ENST00000400331.5	-	5	1969	c.1661G>T	c.(1660-1662)gGg>gTg	p.G554V	MACC1_ENST00000589011.1_Missense_Mutation_p.G554V|MACC1_ENST00000332878.4_Missense_Mutation_p.G554V	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	554	SH3.				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CAGGGTTACCCCATAGTTGCT	0.378000													38	248					6.33695e-27	9.03718e-27	1	1	0
DCLK1	9201	broad.mit.edu	37	13	36700076	36700076	+	Silent	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr13:36700076G>T	ENST00000255448.4	-	2	410	c.199C>A	c.(199-201)Cga>Aga	p.R67R	DCLK1_ENST00000379892.4_Silent_p.R67R|DCLK1_ENST00000360631.3_Silent_p.R67R	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	67	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TTGAAGTATCGATCTCCGTTT	0.547000													29	124					8.58068e-18	1.1395e-17	1	1	0
SVILP1	645954	broad.mit.edu	37	10	30986357	30986357	+	RNA	SNP	T	T	C	rs117915096	by1000genomes	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:30986357T>C	ENST00000435645.1	+	0	347																											CGGCGCTCAATAGTGGGGACT	0.552000													3	54					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17040011	17040011	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:17040011T>C	ENST00000443236.1	-	24	3057	c.3026A>G	c.(3025-3027)cAg>cGg	p.Q1009R		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	962						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CTGCACATACTGGAACTCATA	0.587000													18	60					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214170736	214170736	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:214170736C>T	ENST00000366958.4	+	2	1466	c.858C>T	c.(856-858)gcC>gcT	p.A286A	PROX1_ENST00000261454.4_Silent_p.A286A|PROX1_ENST00000498508.2_Silent_p.A286A|PROX1_ENST00000435016.1_Silent_p.A286A	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	286					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TCCTGGATGCCAGGGCCCAGG	0.502000													39	94					0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34269338	34269338	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:34269338G>T	ENST00000346562.2	+	11	1803	c.1729G>T	c.(1729-1731)Ggc>Tgc	p.G577C	NPAS3_ENST00000548645.1_Missense_Mutation_p.G579C|NPAS3_ENST00000357798.5_Missense_Mutation_p.G596C|NPAS3_ENST00000551492.1_Missense_Mutation_p.G614C|NPAS3_ENST00000356141.4_Missense_Mutation_p.G609C	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	609					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		ACGGCAAAAGGGCGGCAGCGC	0.731000													4	14					0.150653	0.153571	1	1	0
SLC24A4	123041	broad.mit.edu	37	14	92958015	92958015	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:92958015G>T	ENST00000532405.1	+	15	1770	c.1544G>T	c.(1543-1545)gGg>gTg	p.G515V	SLC24A4_ENST00000393265.2_Missense_Mutation_p.G451V|SLC24A4_ENST00000531433.1_Missense_Mutation_p.G496V|SLC24A4_ENST00000351924.5_Missense_Mutation_p.G479V|SLC24A4_ENST00000298877.1_Missense_Mutation_p.G498V			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	515						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GCAGGCCTTGGGGACATGGCA	0.478000													28	67					8.58068e-18	1.1395e-17	1	1	0
NOX3	50508	broad.mit.edu	37	6	155743931	155743931	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:155743931C>T	ENST00000159060.2	-	10	1307	c.1205G>A	c.(1204-1206)tGt>tAt	p.C402Y		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	402							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AACGCACACACACACTGGGTA	0.532000													33	196					0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99514875	99514875	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:99514875C>A	ENST00000261037.3	+	5	2510	c.2130C>A	c.(2128-2130)ccC>ccA	p.P710P	COL8A1_ENST00000273342.4_Silent_p.P710P	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	710	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						TGCTCAGGCCCGGAGACCGGG	0.542000													27	76					1.17739e-12	1.45665e-12	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139158221	139158221	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:139158221A>G	ENST00000395297.1	-	15	3691	c.3521T>C	c.(3520-3522)cTa>cCa	p.L1174P		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1174										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTCAGACATTAGGAAGTCCAG	0.433000										HNSCC(54;0.14)			42	132					0	0	1	0	0
C11orf48	79081	broad.mit.edu	37	11	62437249	62437249	+	Silent	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:62437249C>G	ENST00000431002.2	-	1	1988	c.255G>C	c.(253-255)ccG>ccC	p.P85P	C11orf48_ENST00000354588.3_Silent_p.P59P|C11orf48_ENST00000532208.1_Silent_p.P59P			Q9BQE6	CK048_HUMAN	chromosome 11 open reading frame 48	85										endometrium(1)|lung(5)|urinary_tract(1)	7						CCACAATAGACGGCAGATGGG	0.537000													41	161					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803442	185803442	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:185803442G>T	ENST00000302277.6	+	4	3913	c.3319G>T	c.(3319-3321)Gct>Tct	p.A1107S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1107						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						gcagcagcacgctgcagctgc	0.547000													22	22					1.26612e-14	1.61117e-14	1	1	0
HIP1	3092	broad.mit.edu	37	7	75174442	75174442	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:75174442C>T	ENST00000336926.6	-	26	2630	c.2604G>A	c.(2602-2604)tgG>tgA	p.W868*	HIP1_ENST00000434438.2_Nonsense_Mutation_p.W817*	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	868	I/LWEQ.|Important for actin binding (By similarity).				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GTCCTTCTGTCCATCGAGAGT	0.463000			T	PDGFRB	CMML								72	215					0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29275361	29275361	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:29275361C>A	ENST00000377160.2	+	1	959	c.895C>A	c.(895-897)Ctg>Atg	p.L299M		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						GAAGGCAGCACTGAGGAAGAT	0.398000													83	97					4.00405e-42	6.13319e-42	1	1	0
GREB1	9687	broad.mit.edu	37	2	11758774	11758774	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:11758774T>C	ENST00000381486.2	+	22	4073	c.3773T>C	c.(3772-3774)aTt>aCt	p.I1258T	GREB1_ENST00000396123.1_Missense_Mutation_p.I256T|GREB1_ENST00000234142.5_Missense_Mutation_p.I1258T	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1258						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CAGCCACCCATTGTCTTCTTG	0.667000													18	26					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169201720	169201720	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:169201720C>A	ENST00000393743.3	-	14	2035	c.1744G>T	c.(1744-1746)Gct>Tct	p.A582S		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	582							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTCTCTCTAGCAATTATTTCA	0.348000													20	57					0.000229342	0.000245451	1	1	0
TNIK	23043	broad.mit.edu	37	3	170912383	170912383	+	Silent	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:170912383C>G	ENST00000436636.2	-	5	692	c.348G>C	c.(346-348)ctG>ctC	p.L116L	TNIK_ENST00000369326.5_Silent_p.L116L|TNIK_ENST00000357327.5_Silent_p.L116L|TNIK_ENST00000341852.6_Silent_p.L116L|TNIK_ENST00000284483.8_Silent_p.L116L|TNIK_ENST00000538048.1_Silent_p.L116L|TNIK_ENST00000488470.1_Silent_p.L116L|TNIK_ENST00000475336.1_Silent_p.L116L|TNIK_ENST00000470834.1_Silent_p.L116L|TNIK_ENST00000460047.1_Silent_p.L116L	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	116	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TGTTCTTGATCAGGTCGGTGA	0.468000													173	197					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1552462	1552462	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr20:1552462C>T	ENST00000381605.4	-	3	719	c.655G>A	c.(655-657)Ggg>Agg	p.G219R	SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	219	Ig-like C1-type 1.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TGAACGTCCCCACGGGTCAGC	0.582000													63	131					0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14268735	14268735	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:14268735G>A	ENST00000340736.6	-	14	2806	c.2509C>T	c.(2509-2511)Cac>Tac	p.H837Y	LPHN1_ENST00000361434.3_Missense_Mutation_p.H832Y|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	837	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTGGTGAGGTGGCTGCAGGCA	0.607000													29	72					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975838	76975838	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:76975838C>G	ENST00000409911.1	-	3	1982	c.1759G>C	c.(1759-1761)Gag>Cag	p.E587Q	LRRTM4_ENST00000409884.1_Missense_Mutation_p.E586Q|LRRTM4_ENST00000409093.1_Missense_Mutation_p.E586Q	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	586						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GCAATTCTCTCTAGGTAGATG	0.597000													45	124					0	0	1	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48176835	48176835	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:48176835G>A	ENST00000396720.3	+	3	198	c.4G>A	c.(4-6)Gat>Aat	p.D2N	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	2							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		AGTGGCGATGGATGATGAGGA	0.622000													32	124					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21755861	21755861	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:21755861C>G	ENST00000382254.1	-	14	2810	c.1724G>C	c.(1723-1725)aGc>aCc	p.S575T	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.S535T|CDH12_ENST00000504376.2_Missense_Mutation_p.S575T	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	575	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GACAGGGTAGCTGCTGTCTTC	0.453000										HNSCC(59;0.17)			31	139					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78444924	78444924	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:78444924G>C	ENST00000397909.2	+	11	2686	c.2513G>C	c.(2512-2514)aGt>aCt	p.S838T	NAV3_ENST00000266692.7_Missense_Mutation_p.S838T|NAV3_ENST00000536525.2_Missense_Mutation_p.S838T|NAV3_ENST00000228327.6_Missense_Mutation_p.S838T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	838						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GACATCAACAGTGGGTAAGTA	0.453000										HNSCC(70;0.22)			32	66					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80632731	80632731	+	Silent	SNP	G	G	C	rs138795425	by1000genomes	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:80632731G>C	ENST00000458043.2	+	9	897	c.891G>C	c.(889-891)ccG>ccC	p.P297P	OTOGL_ENST00000547103.1_Silent_p.P297P	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTCCAAATCCGTGCTCCAGTG	0.398000													11	27					0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272482	52272482	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:52272482C>A	ENST00000598776.1	+	2	1343	c.571C>A	c.(571-573)Ctg>Atg	p.L191M	FPR2_ENST00000340023.6_Missense_Mutation_p.L191M|FPR2_ENST00000598953.1_Missense_Mutation_p.L191M	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	191					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TGAGGAGAGGCTGAAGGTGGC	0.488000													20	137					1.15919e-05	1.2616e-05	1	1	0
HDAC9	9734	broad.mit.edu	37	7	18975437	18975437	+	Missense_Mutation	SNP	G	G	T	rs78483718		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:18975437G>T	ENST00000406451.3	+	23	2950	c.2800G>T	c.(2800-2802)Ggt>Tgt	p.G934C	HDAC9_ENST00000432645.2_Missense_Mutation_p.G934C|HDAC9_ENST00000401921.1_Missense_Mutation_p.G893C|HDAC9_ENST00000441542.2_Missense_Mutation_p.G937C	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	934	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GGTAGGTTTTGGTCATTTGAC	0.383000													86	155					3.01496e-42	4.6304e-42	1	1	0
IL9R	3581	broad.mit.edu	37	X	155233355	155233355	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:155233355G>A	ENST00000424344.3	+	5	572	c.205G>A	c.(205-207)Ggc>Agc	p.G69S	IL9R_ENST00000369423.2_Silent_p.L134L|IL9R_ENST00000244174.5_Missense_Mutation_p.G90S|IL9R_ENST00000540897.1_Silent_p.L124L			Q01113	IL9R_HUMAN	interleukin 9 receptor	90					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAGGCTCCTGGCGGCACACA	0.577000													7	18					0	0	1	0	0
MRPL42	28977	broad.mit.edu	37	12	93873224	93873224	+	Silent	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:93873224G>C	ENST00000549982.1	+	4	356	c.195G>C	c.(193-195)gtG>gtC	p.V65V	MRPL42_ENST00000361630.2_Silent_p.V65V|MRPL42_ENST00000547098.1_Silent_p.V65V|MRPL42_ENST00000552217.1_Silent_p.V65V|MRPL42_ENST00000548545.1_Silent_p.V65V|MRPL42_ENST00000393128.4_Silent_p.V65V	NM_014050.3|NM_172177.3	NP_054769.1|NP_751917.1	Q9Y6G3	RM42_HUMAN	mitochondrial ribosomal protein L42	65					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)	7						ACCCTTCTGTGGACATTCCAT	0.328000													33	68					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49669635	49669635	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:49669635T>A	ENST00000561648.1	-	4	3481	c.3428A>T	c.(3427-3429)cAc>cTc	p.H1143L	ZNF423_ENST00000563137.2_Missense_Mutation_p.H1083L|ZNF423_ENST00000262383.2_Missense_Mutation_p.H1143L|ZNF423_ENST00000535559.1_Missense_Mutation_p.H1026L|ZNF423_ENST00000562871.1_Missense_Mutation_p.H1083L|ZNF423_ENST00000562520.1_Missense_Mutation_p.H1083L|ZNF423_ENST00000567169.1_Missense_Mutation_p.H1026L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1143					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GAGGTCACGGTGGTCCACCTG	0.672000													35	181					0	0	1	0	0
LONP2	83752	broad.mit.edu	37	16	48278415	48278415	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:48278415T>A	ENST00000285737.4	+	1	209	c.116T>A	c.(115-117)cTg>cAg	p.L39Q	ABCC11_ENST00000356608.2_Intron|ABCC11_ENST00000537808.1_Intron|LONP2_ENST00000535754.1_Missense_Mutation_p.L39Q	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	39	Lon.				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCCCGCAACCTGCAGCTGGTG	0.701000													6	5					0	0	1	0	0
SNTB1	6641	broad.mit.edu	37	8	121823957	121823957	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:121823957C>A	ENST00000395601.3	-	2	541	c.127G>T	c.(127-129)Gag>Tag	p.E43*	SNTB1_ENST00000517992.1_Nonsense_Mutation_p.E43*	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	43	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			AGGGCGTCCTCGCTCAAGTTC	0.706000													3	60					0.00024832	0.000264783	1	1	0
ADAM29	11086	broad.mit.edu	37	4	175896751	175896751	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:175896751C>T	ENST00000359240.3	+	5	745	c.75C>T	c.(73-75)ccC>ccT	p.P25P	ADAM29_ENST00000445694.1_Silent_p.P25P|ADAM29_ENST00000514159.1_Silent_p.P25P|ADAM29_ENST00000404450.4_Silent_p.P25P	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	25					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			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)		ATGAGCACCCCCAATATCACA	0.517000													51	114					0	0	1	0	0
PTH	5741	broad.mit.edu	37	11	13513984	13513984	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:13513984C>T	ENST00000282091.1	-	3	430	c.316G>A	c.(316-318)Gtg>Atg	p.V106M	PTH_ENST00000529816.1_Missense_Mutation_p.V106M	NM_000315.2	NP_000306.1	P01270	PTHY_HUMAN	parathyroid hormone	106					bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development		hormone activity|peptide hormone receptor binding			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)		AATACATTCACATCAGCTTTG	0.428000													14	81					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33525538	33525538	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:33525538G>T	ENST00000404816.2	+	21	3609	c.3256G>T	c.(3256-3258)Ggg>Tgg	p.G1086W	LTBP1_ENST00000272273.5_Missense_Mutation_p.G26W|LTBP1_ENST00000418533.2_Missense_Mutation_p.G760W|LTBP1_ENST00000407925.1_Missense_Mutation_p.G760W|LTBP1_ENST00000404525.1_Missense_Mutation_p.G707W|LTBP1_ENST00000354476.3_Missense_Mutation_p.G1087W|LTBP1_ENST00000390003.4_Missense_Mutation_p.G761W|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000402934.1_Missense_Mutation_p.G707W			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1086	EGF-like 9; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ATGTCAGCAAGGGAATCTATG	0.488000													15	90					4.7546e-09	5.53907e-09	1	1	0
NCF4	4689	broad.mit.edu	37	22	37266473	37266473	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr22:37266473C>G	ENST00000397147.4	+	5	543	c.359C>G	c.(358-360)cCg>cGg	p.P120R	CTA-833B7.2_ENST00000330602.2_RNA|NCF4_ENST00000248899.6_Missense_Mutation_p.P120R	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	120	PX.				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CTCAGCCTGCCGGTCTGGGTG	0.642000													30	89					0	0	1	0	0
C14orf119	55017	broad.mit.edu	37	14	23567116	23567116	+	Silent	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:23567116T>C	ENST00000319074.4	+	2	1105	c.249T>C	c.(247-249)tcT>tcC	p.S83S	C14orf119_ENST00000554203.1_Silent_p.S83S	NM_017924.3	NP_060394.1	Q9NWQ9	CN119_HUMAN	chromosome 14 open reading frame 119	83										central_nervous_system(1)|endometrium(1)|lung(1)	3	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00649)		TTAGTGTGTCTGGGGCAGACC	0.527000													41	167					0	0	1	0	0
NEIL3	55247	broad.mit.edu	37	4	178283595	178283595	+	Silent	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:178283595G>T	ENST00000264596.3	+	10	1906	c.1788G>T	c.(1786-1788)ggG>ggT	p.G596G		NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	596					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CAGAAAATGGGCCAGGAATAA	0.363000								Base excision repair (BER), DNA glycosylases					51	123					1.0442e-30	1.51526e-30	1	1	0
PCDHA7	56141	broad.mit.edu	37	5	140215375	140215375	+	Silent	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:140215375G>T	ENST00000525929.1	+	1	1407	c.1407G>T	c.(1405-1407)ccG>ccT	p.P469P	PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.P469P|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018910.2	NP_061733.1												p.P469P(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACAACCCGCCGGGCTGCC	0.682000													17	47					9.57634e-11	1.1456e-10	1	1	0
MOV10L1	54456	broad.mit.edu	37	22	50552123	50552123	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr22:50552123T>G	ENST00000262794.5	+	6	873	c.790T>G	c.(790-792)Ttg>Gtg	p.L264V	MOV10L1_ENST00000545383.1_Missense_Mutation_p.L264V|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000540615.1_Missense_Mutation_p.L244V|MOV10L1_ENST00000395858.3_Missense_Mutation_p.L264V	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	264					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGGAACGATTTTGCTGAAGAA	0.473000													47	115					0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203018892	203018892	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:203018892C>A	ENST00000367240.2	+	12	1972	c.1445C>A	c.(1444-1446)tCc>tAc	p.S482Y	PPFIA4_ENST00000295706.4_5'UTR|PPFIA4_ENST00000447715.2_Missense_Mutation_p.S507Y|PPFIA4_ENST00000414050.2_Missense_Mutation_p.S210Y			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	0	SAM 2.				cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GGCGTCCACTCCAGGTACTGC	0.627000													6	9					0.00116845	0.00123229	1	1	0
SLITRK2	84631	broad.mit.edu	37	X	144905021	144905021	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:144905021C>G	ENST00000370490.1	+	1	5333	c.1078C>G	c.(1078-1080)Caa>Gaa	p.Q360E	SLITRK2_ENST00000447897.2_Missense_Mutation_p.Q360E|SLITRK2_ENST00000434188.2_Missense_Mutation_p.Q360E|SLITRK2_ENST00000428560.2_Missense_Mutation_p.Q360E|SLITRK2_ENST00000413937.2_Missense_Mutation_p.Q360E			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	360	LRRNT.					integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TGTAAACTGCCAAGAAAGGAA	0.473000													31	22					0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146244822	146244822	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:146244822T>A	ENST00000367503.3	-	18	3927	c.3529A>T	c.(3529-3531)Agc>Tgc	p.S1177C	SHPRH_ENST00000275233.7_Missense_Mutation_p.S1168C|SHPRH_ENST00000438092.2_Missense_Mutation_p.S1177C|SHPRH_ENST00000367505.2_Missense_Mutation_p.S1168C	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1168					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTGTAGTTGCTGGTTATTTCA	0.358000													65	114					0	0	1	0	0
TBC1D16	125058	broad.mit.edu	37	17	77914883	77914883	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:77914883G>A	ENST00000310924.2	-	12	2194	c.2079C>T	c.(2077-2079)ttC>ttT	p.F693F	TBC1D16_ENST00000576768.1_Silent_p.F318F|TBC1D16_ENST00000340848.7_Silent_p.F331F	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	693						intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GCAGGAGGCGGAACTGGTACA	0.677000													3	18					0	0	1	0	0
ABCB6	10058	broad.mit.edu	37	2	220083227	220083227	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:220083227C>A	ENST00000265316.3	-	1	485	c.169G>T	c.(169-171)Gct>Tct	p.A57S	ABCB6_ENST00000439002.2_Missense_Mutation_p.A57S	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	57					cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAGCACCAGCGGGCCGCTCC	0.687000													8	11					3.09899e-07	3.47062e-07	1	1	0
DCAF5	8816	broad.mit.edu	37	14	69529205	69529205	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:69529205C>G	ENST00000341516.5	-	8	1117	c.970G>C	c.(970-972)Gga>Cga	p.G324R	DCAF5_ENST00000557386.1_Missense_Mutation_p.G323R|DCAF5_ENST00000554215.1_Missense_Mutation_p.G242R|DCAF5_ENST00000556847.1_Missense_Mutation_p.G242R|DCAF5_ENST00000553293.1_Intron	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	324						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						ATGAAGGCTCCGTTGACCACC	0.413000													12	93					0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	70987072	70987072	+	Missense_Mutation	SNP	C	C	T	rs142379141		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:70987072C>T	ENST00000354624.5	+	2	306	c.173C>T	c.(172-174)aCg>aTg	p.T58M	RP11-227H15.4_ENST00000450995.1_RNA|HKDC1_ENST00000395086.2_Missense_Mutation_p.T58M	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	58					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						ACCAACCCCACGGCTGCAGTG	0.597000													23	62					0	0	1	0	0
VRK2	7444	broad.mit.edu	37	2	58276056	58276056	+	Silent	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:58276056A>T	ENST00000435505.2	+	5	835	c.90A>T	c.(88-90)gtA>gtT	p.V30V	VRK2_ENST00000412104.2_Silent_p.V30V|VRK2_ENST00000440705.2_Silent_p.V7V|VRK2_ENST00000417641.2_Silent_p.V30V|VRK2_ENST00000340157.4_Silent_p.V30V			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	30	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						ATCAGTGGGTACTGGGCAAGA	0.368000													20	91					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69646437	69646437	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:69646437C>T	ENST00000370598.1	+	5	1716	c.895C>T	c.(895-897)Cag>Tag	p.Q299*		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	299	TSP type-1 1.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGAGTGGTCCCAGTGGAGCAC	0.463000													19	26					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	122004402	122004402	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:122004402C>T	ENST00000265922.3	-	4	963	c.502G>A	c.(502-504)Gca>Aca	p.A168T	DBC1_ENST00000373964.2_Missense_Mutation_p.A168T	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		168	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TAGGATGATGCGAGCTGGTGC	0.512000													28	189					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16955852	16955852	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:16955852C>A	ENST00000377833.4	-	48	7556	c.7491G>T	c.(7489-7491)ctG>ctT	p.L2497L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2497	CUB 18.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGCCAGCCTCAGGTTGTTAA	0.517000													43	261					2.00842e-17	2.6429e-17	1	1	0
NGFR	4804	broad.mit.edu	37	17	47589374	47589374	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:47589374G>A	ENST00000172229.3	+	5	1067	c.942G>A	c.(940-942)ctG>ctA	p.L314L	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Silent_p.L220L	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	314					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GCCAGAGCCTGCATGACCAGC	0.637000													20	27					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31327905	31327905	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:31327905C>A	ENST00000597505.1	-	3	464	c.465G>T	c.(463-465)caG>caT	p.Q155H	RP1-296L11.1_ENST00000528872.1_RNA|DCDC1_ENST00000452803.1_Missense_Mutation_p.Q155H			P59894	DCDC1_HUMAN	doublecortin domain containing 1	155					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TCCGGGCTGACTGAAATTTTA	0.333000													14	46					1.49906e-05	1.62538e-05	1	1	0
CUBN	8029	broad.mit.edu	37	10	17032445	17032445	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:17032445G>T	ENST00000377833.4	-	29	4303	c.4238C>A	c.(4237-4239)cCa>cAa	p.P1413Q		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1413	CUB 9.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCCTTGTTTGGTGGATACCT	0.512000													24	143					3.6726e-16	4.74651e-16	1	1	0
ANK2	287	broad.mit.edu	37	4	114238951	114238951	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:114238951A>G	ENST00000357077.4	+	25	2835	c.2782A>G	c.(2782-2784)Att>Gtt	p.I928V	ANK2_ENST00000506722.1_Missense_Mutation_p.I907V|ANK2_ENST00000394537.3_Missense_Mutation_p.I928V|ANK2_ENST00000509550.1_Missense_Mutation_p.I137V|ANK2_ENST00000264366.6_Missense_Mutation_p.I928V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	928					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)		CTCAGTTGTGATTCCCAGTCA	0.473000													37	69					0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81259118	81259118	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr14:81259118C>T	ENST00000555265.1	-	14	1921	c.1546G>A	c.(1546-1548)Ggc>Agc	p.G516S	CEP128_ENST00000281129.3_Missense_Mutation_p.G516S			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	516						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TTATTCTTGCCTGTCAGTTCA	0.383000													39	212					0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85984691	85984691	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:85984691C>G	ENST00000372113.4	-	2	295	c.290G>C	c.(289-291)gGa>gCa	p.G97A	LRIT2_ENST00000538192.1_Missense_Mutation_p.G97A	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	97						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TTCCAGGGCTCCTAGGTGGAT	0.517000													58	168					0	0	1	0	0
SLC41A2	84102	broad.mit.edu	37	12	105260337	105260337	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:105260337G>T	ENST00000258538.3	-	6	1175	c.1048C>A	c.(1048-1050)Cca>Aca	p.P350T		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	350						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						CCAACTAATGGAGAAATGTAG	0.343000													40	71					4.92203e-23	6.85061e-23	1	1	0
SLCO1B1	10599	broad.mit.edu	37	12	21375295	21375295	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:21375295C>T	ENST00000256958.2	+	13	1840	c.1744C>T	c.(1744-1746)Cta>Tta	p.L582L		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	582					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TATACGAGCACTAGGTATGAT	0.234000													22	69					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33411996	33411996	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:33411996C>A	ENST00000404816.2	+	6	1628	c.1275C>A	c.(1273-1275)ttC>ttA	p.F425L	LTBP1_ENST00000418533.2_Missense_Mutation_p.F99L|LTBP1_ENST00000407925.1_Missense_Mutation_p.F99L|LTBP1_ENST00000404525.1_Missense_Mutation_p.F99L|LTBP1_ENST00000354476.3_Missense_Mutation_p.F425L|LTBP1_ENST00000390003.4_Missense_Mutation_p.F99L|LTBP1_ENST00000402934.1_Missense_Mutation_p.F99L			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	425	EGF-like 2.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTCCAAATTTCACAGGAAAAC	0.483000													39	68					8.73648e-17	1.13928e-16	1	1	0
SPATA8	145946	broad.mit.edu	37	15	97327404	97327404	+	Silent	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:97327404A>G	ENST00000328504.3	+	2	378	c.111A>G	c.(109-111)tcA>tcG	p.S37S	SPATA8_ENST00000558553.1_5'UTR	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	37										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			GACATTTCTCAGAAGCCATGA	0.582000													34	86					0	0	1	0	0
H2AFV	94239	broad.mit.edu	37	7	44880522	44880522	+	Silent	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:44880522C>A	ENST00000222690.6	-	3	276	c.171G>T	c.(169-171)gcG>gcT	p.A57A	H2AFV_ENST00000381124.5_Silent_p.A57A|H2AFV_ENST00000350771.3_Silent_p.A31A|H2AFV_ENST00000437072.1_Intron|H2AFV_ENST00000446531.1_Silent_p.A57A|H2AFV_ENST00000308153.4_Silent_p.A57A|H2AFV_ENST00000349299.3_Intron|H2AFV_ENST00000521529.1_Silent_p.A31A	NM_138635.3	NP_619541.1	Q71UI9	H2AV_HUMAN	H2A histone family, member V	57					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	9						ACTCCAGAATCGCAGCACTGT	0.512000													9	47					7.48243e-07	8.2678e-07	1	1	0
OR5M3	219482	broad.mit.edu	37	11	56237387	56237387	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:56237387G>A	ENST00000312240.2	-	1	627	c.587C>T	c.(586-588)aCa>aTa	p.T196I		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TATGATCATTGTATATTCTTT	0.408000													91	84					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15299972	15299972	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:15299972G>A	ENST00000263388.2	-	8	1281	c.1206C>T	c.(1204-1206)tgC>tgT	p.C402C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	402	EGF-like 10; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCAAGTGCTCGCAGGGGTTGG	0.652000													19	65					0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212769	62212769	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:62212769G>C	ENST00000519846.1	+	3	855	c.383G>C	c.(382-384)gGg>gCg	p.G128A	RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Missense_Mutation_p.G128A			Q8IUQ0	CLVS1_HUMAN	clavesin 1	128	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GGGTTCCCCGGGGTGCTGGAA	0.478000													33	56					0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703542	55703542	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:55703542G>T	ENST00000301532.3	-	1	334	c.335C>A	c.(334-336)aCa>aAa	p.T112K		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GAAGGATTCTGTATCTGCAAA	0.438000													33	26					3.90053e-15	4.97446e-15	1	1	0
NID1	4811	broad.mit.edu	37	1	236154329	236154329	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:236154329G>T	ENST00000264187.6	-	14	2867	c.2785C>A	c.(2785-2787)Caa>Aaa	p.Q929K	NID1_ENST00000366595.3_Missense_Mutation_p.Q796K	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	929					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GCAGGTCCTTGGTGAATCGGG	0.612000													22	29					9.86323e-18	1.30384e-17	1	1	0
NRSN2	80023	broad.mit.edu	37	20	330327	330327	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr20:330327G>T	ENST00000382291.3	+	3	280	c.40G>T	c.(40-42)Ggc>Tgc	p.G14C	NRSN2_ENST00000382285.2_Missense_Mutation_p.G14C|NRSN2_ENST00000492242.1_Intron	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	14						integral to membrane|plasma membrane|transport vesicle				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				CTGCAGCCGCGGCCCCAGCGT	0.632000													27	48					3.93418e-24	5.55583e-24	1	1	0
TMEM132B	114795	broad.mit.edu	37	12	126138491	126138491	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:126138491G>A	ENST00000299308.3	+	9	2480	c.2472G>A	c.(2470-2472)caG>caA	p.Q824Q	TMEM132B_ENST00000535886.1_Silent_p.Q336Q	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	824						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AAGGAAACCAGGAGAGAGCAG	0.502000													32	111					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	979269	979269	+	Missense_Mutation	SNP	G	G	T	rs140789461		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:979269G>T	ENST00000379370.2	+	10	1915	c.1865G>T	c.(1864-1866)cGg>cTg	p.R622L		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	622	Kazal-like 7.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GTGTGTCCCCGGTGTGAGCAC	0.682000													6	51					3.59834e-05	3.88701e-05	1	1	0
NPAP1	23742	broad.mit.edu	37	15	24921726	24921726	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:24921726G>C	ENST00000329468.2	+	1	1186	c.712G>C	c.(712-714)Gcc>Ccc	p.A238P		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GGAAGGCCCTGCCATGCCCAG	0.622000													24	40					0	0	1	0	0
ALDOC	230	broad.mit.edu	37	17	26902143	26902143	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:26902143T>C	ENST00000226253.4	-	3	797	c.322A>G	c.(322-324)Aag>Gag	p.K108E	ALDOC_ENST00000395321.2_Missense_Mutation_p.K108E|ALDOC_ENST00000395319.3_Missense_Mutation_p.K108E	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	108					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					GGCTGCACCTTGATGCCCACG	0.527000											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	101					0	0	1	0	0
AVPR1A	552	broad.mit.edu	37	12	63544528	63544528	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:63544528C>G	ENST00000299178.2	-	1	194	c.89G>C	c.(88-90)cGg>cCg	p.R30P		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	30					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	TTCGGCCTCCCGGCTTGTGTT	0.706000													23	91					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532842	84532842	+	RNA	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr9:84532842C>A	ENST00000527857.1	+	0	2864					NR_026851.1																						TTCCTTTTCCCATTTCTACCT	0.433000													26	20					8.88839e-20	1.19683e-19	1	1	0
MKX	283078	broad.mit.edu	37	10	28030397	28030397	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:28030397C>T	ENST00000375790.5	-	3	657	c.225G>A	c.(223-225)cgG>cgA	p.R75R	MKX_ENST00000419761.1_Silent_p.R75R			Q8IYA7	MKX_HUMAN	mohawk homeobox	75					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GCAGGGCCTGCCGCTTGTGCC	0.662000													4	58					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29938141	29938141	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:29938141G>T	ENST00000378993.1	+	8	1660	c.987G>T	c.(985-987)ttG>ttT	p.L329F	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.L329F	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	329	Ig-like C2-type 3.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AAGGTGACTTGGGAAATTACT	0.418000													48	38					1.61863e-15	2.07342e-15	1	1	0
GTF2F1	2962	broad.mit.edu	37	19	6389458	6389458	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:6389458C>A	ENST00000394456.5	-	4	787	c.323G>T	c.(322-324)aGg>aTg	p.R108M	CTB-180A7.6_ENST00000599584.1_RNA|GTF2F1_ENST00000429701.2_Missense_Mutation_p.R80M	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	108					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						CACTTACTTCCTGCCTGATTT	0.612000													85	119					4.869e-31	7.10114e-31	1	1	0
NCAPG2	54892	broad.mit.edu	37	7	158445168	158445168	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:158445168C>T	ENST00000409339.3	-	23	2864	c.2751G>A	c.(2749-2751)aaG>aaA	p.K917K	NCAPG2_ENST00000449727.2_Silent_p.K917K|NCAPG2_ENST00000356309.3_Silent_p.K917K|NCAPG2_ENST00000409423.1_Silent_p.K917K|NCAPG2_ENST00000541468.1_Silent_p.K418K|NCAPG2_ENST00000275830.10_Silent_p.K709K			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	917					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AAAAAAATCCCTTCACTAGAA	0.303000													18	53					0	0	1	0	0
RGR	5995	broad.mit.edu	37	10	86014184	86014184	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr10:86014184G>T	ENST00000359452.4	+	5	665	c.627G>T	c.(625-627)aaG>aaT	p.K209N	RGR_ENST00000358110.5_Missense_Mutation_p.K205N	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	205					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						AACTGGGGAAGAGTGGCCATC	0.527000													18	77					2.35188e-11	2.83106e-11	1	1	0
TRIB2	28951	broad.mit.edu	37	2	12880596	12880596	+	Silent	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:12880596C>T	ENST00000155926.4	+	3	2127	c.708C>T	c.(706-708)gaC>gaT	p.D236D	TRIB2_ENST00000381465.2_Silent_p.D100D	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	236	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	p.D236D(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AAGCAGCCGACGTGTGGAGCC	0.592000													11	85					0	0	1	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82380494	82380494	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:82380494A>T	ENST00000436139.2	-	2	295	c.169T>A	c.(169-171)Tat>Aat	p.Y57N	RASGEF1B_ENST00000264400.2_Missense_Mutation_p.Y57N|RASGEF1B_ENST00000509081.1_Missense_Mutation_p.Y57N|RASGEF1B_ENST00000335927.7_Missense_Mutation_p.Y57N			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	57	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						ACATCTGGATAGTAATCCACA	0.428000													89	173					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160511018	160511018	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:160511018A>G	ENST00000356956.1	+	44	6686	c.6538A>G	c.(6538-6540)Atc>Gtc	p.I2180V		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2180					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		ACTTTCCTCCATCACAAGCTC	0.512000													61	92					0	0	1	0	0
C6orf120	387263	broad.mit.edu	37	6	170102735	170102735	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:170102735C>A	ENST00000332290.2	+	1	479	c.180C>A	c.(178-180)aaC>aaA	p.N60K	C6orf120_ENST00000439249.1_Missense_Mutation_p.N79K	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN	chromosome 6 open reading frame 120	60						extracellular region				endometrium(1)|lung(2)	3		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		TGCGGCTGAACCACGAGGGCA	0.647000													36	60					8.73648e-17	1.13928e-16	1	1	0
GOLGA3	2802	broad.mit.edu	37	12	133373162	133373162	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:133373162G>A	ENST00000204726.3	-	10	2621	c.2063C>T	c.(2062-2064)gCg>gTg	p.A688V	GOLGA3_ENST00000545875.1_Missense_Mutation_p.A688V|GOLGA3_ENST00000537452.1_Missense_Mutation_p.A688V|GOLGA3_ENST00000450791.2_Missense_Mutation_p.A688V|GOLGA3_ENST00000456883.2_Missense_Mutation_p.A688V	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	688	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CGCCGAGTCCGCCATCCTCTG	0.627000													4	218					0	0	1	0	0
ASIC3	9311	broad.mit.edu	37	7	150746300	150746300	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:150746300G>A	ENST00000357922.4	+	1	922	c.328G>A	c.(328-330)Gct>Act	p.A110T	ASIC3_ENST00000297512.8_Missense_Mutation_p.A110T|ASIC3_ENST00000349064.5_Missense_Mutation_p.A110T	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	110					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										CCTGCACTGGGCTGGGTCTGC	0.701000													4	133					0	0	1	0	0
NOP14	8602	broad.mit.edu	37	4	2940652	2940652	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:2940652G>A	ENST00000416614.2	-	18	2545	c.2480C>T	c.(2479-2481)gCg>gTg	p.A827V	NOP14-AS1_ENST00000503709.1_RNA|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000398071.4_Intron|NOP14-AS1_ENST00000512712.2_RNA|NOP14-AS1_ENST00000512802.1_RNA|NOP14_ENST00000314262.6_Missense_Mutation_p.A827V|NOP14-AS1_ENST00000507999.1_RNA|NOP14-AS1_ENST00000507702.1_RNA|NOP14_ENST00000507120.1_Intron|NOP14-AS1_ENST00000505731.1_RNA|NOP14_ENST00000502735.1_Intron			P78316	NOP14_HUMAN	NOP14 nucleolar protein	827					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CTTTCTTTCCGCATCCCTAAA	0.428000													4	134					0	0	1	0	0
CEMP1	752014	broad.mit.edu	37	16	2580803	2580803	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:2580803C>T	ENST00000382350.1	-	1	617	c.272G>A	c.(271-273)tGt>tAt	p.C91Y	AMDHD2_ENST00000302956.4_3'UTR|AMDHD2_ENST00000413459.3_3'UTR|CEMP1_ENST00000565480.1_Intron|AMDHD2_ENST00000565570.1_3'UTR|CEMP1_ENST00000567119.1_Missense_Mutation_p.C91Y			Q6PRD7	CEMP1_HUMAN	cementum protein 1	91						cytoplasm				lung(1)|skin(1)	2						TCTCAGCCCACAAGCCCCAGG	0.657000													29	47					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168115442	168115442	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:168115442G>T	ENST00000409728.1	+	11	2574	c.2485G>T	c.(2485-2487)Gct>Tct	p.A829S	XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.A796S|XIRP2_ENST00000409605.1_Missense_Mutation_p.A574S|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.A796S|XIRP2_ENST00000420519.1_Missense_Mutation_p.A829S	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGTGCAGCCTGCTCCAAAACC	0.438000													16	37					2.32078e-09	2.71461e-09	1	1	0
NR0B1	190	broad.mit.edu	37	X	30326412	30326412	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:30326412G>T	ENST00000378970.4	-	1	1303	c.1069C>A	c.(1069-1071)Cag>Aag	p.Q357K	NR0B1_ENST00000453287.1_Missense_Mutation_p.Q357K|NR0B1_ENST00000378963.1_Missense_Mutation_p.Q62K	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	357	Ligand-binding (By similarity).				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GCTTGGACCTGGGAGGCGGAG	0.637000											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	26					2.70639e-06	2.95661e-06	1	1	0
KIF5A	3798	broad.mit.edu	37	12	57974825	57974825	+	Silent	SNP	G	G	A			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:57974825G>A	ENST00000455537.2	+	24	2899	c.2625G>A	c.(2623-2625)ctG>ctA	p.L875L	KIF5A_ENST00000286452.5_Silent_p.L786L	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	875					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						TTAAGGCCCTGGAGGGTGCAC	0.572000													19	49					0	0	1	0	0
STARD4	134429	broad.mit.edu	37	5	110835766	110835766	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr5:110835766C>T	ENST00000296632.3	-	6	570	c.436G>A	c.(436-438)Gtt>Att	p.V146I	STARD4_ENST00000512160.1_3'UTR	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	146	START.				lipid transport		lipid binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		TATCCTCGAACAAATTCTGGT	0.363000													23	72					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41009736	41009736	+	Splice_Site	SNP	G	G	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:41009736G>T	ENST00000352632.3	+	12	1448		c.e12-1		SPTBN4_ENST00000598249.1_Splice_Site|SPTBN4_ENST00000344104.3_Splice_Site|SPTBN4_ENST00000338932.3_Splice_Site|SPTBN4_ENST00000595535.1_Splice_Site			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4						actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CACTGCCCCAGGACAACTTTG	0.602000													8	18					0.00307968	0.00323032	1	1	0
EFCAB14	9813	broad.mit.edu	37	1	47154099	47154100	+	Frame_Shift_Ins	INS	-	-	CTGGGTAAGATTA			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:47154099_47154100insCTGGGTAAGATTA	ENST00000371933.3	-	7	1888_1889	c.912_913insTAATCTTACCCAG	c.(910-915)cagagtfs	p.QS304fs	EFCAB14-AS1_ENST00000418985.1_RNA|EFCAB14_ENST00000544071.1_Intron|EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14_ENST00000484461.1_5'UTR	NM_014774.2	NP_055589.1			EF-hand calcium binding domain 14																		AGGTTGACTCTCTGGGTAAGAT	0.441													19	327	---	---	---	---					
DBT	1629	broad.mit.edu	37	1	100672035	100672035	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:100672035delG	ENST00000370132.3	-	9	1188	c.1175delC	c.(1174-1176)aafs	p.T392fs		NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	392					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TGTTCCTCCTGTAAGATCAGT	0.378													77	398	---	---	---	---					
COL11A1	1301	broad.mit.edu	37	1	103480115	103480115	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:103480115delG	ENST00000358392.2	-	13	1877	c.1560delC	c.(1558-1560)acfs	p.T520fs	COL11A1_ENST00000370096.3_Frame_Shift_Del_p.T508fs|COL11A1_ENST00000512756.1_Frame_Shift_Del_p.T392fs|COL11A1_ENST00000353414.4_Frame_Shift_Del_p.T469fs	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	508	Telopeptide.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GAGCAGAGATGGTTGGTCCTT	0.418													60	105	---	---	---	---					
CCDC181	57821	broad.mit.edu	37	1	169394069	169394069	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:169394069delT	ENST00000545005.1	-	3	604	c.97delA	c.(97-99)gtfs	p.S33fs	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Frame_Shift_Del_p.S33fs|CCDC181_ENST00000367805.3_Frame_Shift_Del_p.S33fs					coiled-coil domain containing 181																		CTGGCATCACTTTTTTCATTT	0.289													53	125	---	---	---	---					
RGS1	5996	broad.mit.edu	37	1	192547358	192547358	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:192547358delA	ENST00000367459.3	+	4	353	c.287delA	c.(286-288)cafs	p.Q96fs	RGS1_ENST00000469578.2_Frame_Shift_Del_p.Q96fs	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	96	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				TTAGCTGGTCAAAATGTCTTT	0.338													123	254	---	---	---	---					
CHRM3	1131	broad.mit.edu	37	1	240070839	240070839	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr1:240070839delC	ENST00000255380.4	+	5	867	c.88delC	c.(88-90)ccfs	p.P31fs		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	31					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TGCAGGGCTGCCCCCGGGAAC	0.542													66	190	---	---	---	---					
PEX13	5194	broad.mit.edu	37	2	61275876	61275876	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:61275876delG	ENST00000295030.4	+	4	1221	c.1183delG	c.(1183-1185)ggfs	p.G395fs		NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	395					cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding			endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			TGATTCCATTGGGAAAGATGG	0.358													33	121	---	---	---	---					
GAD1	2571	broad.mit.edu	37	2	171702239	171702240	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr2:171702239_171702240insG	ENST00000358196.3	+	9	1441_1442	c.891_892insG	c.(889-894)gcgggcfs	p.AG297fs		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	297					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TAAAGAAAGCTGGGGCTGCACT	0.426													57	131	---	---	---	---					
RFC4	5984	broad.mit.edu	37	3	186512478	186512478	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr3:186512478delC	ENST00000392481.2	-	5	660	c.379delG	c.(379-381)ctfs	p.A127fs	RFC4_ENST00000433496.1_Frame_Shift_Del_p.A127fs|RFC4_ENST00000296273.2_Frame_Shift_Del_p.A127fs	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	127					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		GTTAATTGAGCAAAATTTTTC	0.373													19	155	---	---	---	---					
CRIPAK	285464	broad.mit.edu	37	4	1388622	1388623	+	Frame_Shift_Ins	INS	-	-	CA	rs79704405	byFrequency	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:1388622_1388623insCA	ENST00000324803.4	+	1	3283_3284	c.323_324insCA	c.(322-324)cacfs	p.H108fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	108					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	p.L108H(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCCGCCTGCTCACGTGCCCAT	0.668													9	543	---	---	---	---					
CRIPAK	285464	broad.mit.edu	37	4	1389361	1389362	+	Frame_Shift_Del	DEL	CA	CA	-	rs71299249		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:1389361_1389362delCA	ENST00000324803.4	+	1	4022_4023	c.1062_1063delCA	c.(1060-1065)ctcafs	p.LT354fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	354					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCCGCCTGCTCACACGTGCCCA	0.653													8	494	---	---	---	---					
GABRG1	2565	broad.mit.edu	37	4	46060593	46060593	+	Frame_Shift_Del	DEL	G	G	-	rs139684526	byFrequency	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:46060593delG	ENST00000295452.4	-	6	839	c.672delC	c.(670-672)tcfs	p.S224fs		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	224					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CCACTTCTACGGAGGGCTTTT	0.353													30	62	---	---	---	---					
OTUD4	54726	broad.mit.edu	37	4	146071685	146071685	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr4:146071685delC	ENST00000454497.2	-	13	1181	c.1044delG	c.(1042-1044)cgfs	p.R348fs	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_Frame_Shift_Del_p.R413fs	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	412							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GTGAAGGTGTCCGGCTAAGAT	0.398													20	241	---	---	---	---					
PARK2	5071	broad.mit.edu	37	6	162683695	162683695	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr6:162683695delC	ENST00000366898.1	-	3	376	c.274delG	c.(274-276)cgfs	p.A92fs	PARK2_ENST00000366892.1_Frame_Shift_Del_p.A92fs|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366894.1_Intron|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366897.1_Frame_Shift_Del_p.A92fs	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	92			A -> V (in PARK2).		aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CAGCCTCCCGCCGCGTTTCTG	0.582													29	139	---	---	---	---					
PRSS3P2	154754	broad.mit.edu	37	7	142481743	142481745	+	RNA	DEL	CTA	CTA	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr7:142481743_142481745delCTA	ENST00000603901.1	+	0	454					NR_001296.3																						ACCCACATTTCTACTTTCTTTAT	0.517													9	123	---	---	---	---					
WRN	7486	broad.mit.edu	37	8	30958449	30958449	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:30958449delC	ENST00000298139.5	+	18	2315	c.2066delC	c.(2065-2067)tcfs	p.S689fs		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	689	Helicase ATP-binding.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AAGTTGGGCTCCCTAAAGACA	0.433			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				23	23	---	---	---	---					
PREX2	80243	broad.mit.edu	37	8	69129909	69129909	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr8:69129909delC	ENST00000288368.4	+	38	4940	c.4663delC	c.(4663-4665)cafs	p.P1556fs		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1556					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CCACGGACTGCCACCTCGTTA	0.552													19	82	---	---	---	---					
LOC101927708	101927708	broad.mit.edu	37	11	3552650	3552651	+	RNA	INS	-	-	G	rs34642454		TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr11:3552650_3552651insG	ENST00000527970.1	-	0	285																											CAGCACCCCATGGGGGGGCCCT	0.500													3	6	---	---	---	---					
RP11-1038A11.3	0	broad.mit.edu	37	12	5462896	5462897	+	RNA	INS	-	-	AGGA			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:5462896_5462897insAGGA	ENST00000537192.1	+	0	219																											agaaagaaaagaggaaggaagg	0.406													2	4	---	---	---	---					
PPFIA2	8499	broad.mit.edu	37	12	81839439	81839439	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr12:81839439delC	ENST00000550584.2	-	5	761	c.466delG	c.(466-468)tgfs	p.V157fs	PPFIA2_ENST00000552948.1_Frame_Shift_Del_p.V157fs|PPFIA2_ENST00000549396.1_Frame_Shift_Del_p.V157fs|RP11-315E17.1_ENST00000550272.1_RNA|PPFIA2_ENST00000548586.1_Frame_Shift_Del_p.V157fs|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000333447.7_Frame_Shift_Del_p.V139fs|PPFIA2_ENST00000443686.3_Frame_Shift_Del_p.V83fs|PPFIA2_ENST00000550359.2_Frame_Shift_Del_p.V4fs|PPFIA2_ENST00000549325.1_Frame_Shift_Del_p.V139fs|PPFIA2_ENST00000407050.4_Frame_Shift_Del_p.V83fs	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	83										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CGTTTTACCACCGTCATTCTT	0.428													27	45	---	---	---	---					
RASGRF1	5923	broad.mit.edu	37	15	79292140	79292140	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr15:79292140delG	ENST00000419573.3	-	18	3013	c.2739delC	c.(2737-2739)gcfs	p.A913fs	RASGRF1_ENST00000558480.2_Frame_Shift_Del_p.A897fs|RASGRF1_ENST00000394745.3_Frame_Shift_Del_p.A129fs|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	915					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGCCCTCGTTGGCCCCGGCGG	0.582													30	187	---	---	---	---					
RP11-863P13.2	0	broad.mit.edu	37	16	88226611	88226611	+	RNA	DEL	G	G	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr16:88226611delG	ENST00000568587.1	-	0	91																											tggtggtgatggtggtgatgg	0.522													3	6	---	---	---	---					
MPP2	4355	broad.mit.edu	37	17	41959835	41959836	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr17:41959835_41959836delGC	ENST00000269095.4	-	6	801_802	c.497_498delGC	c.(496-498)cfs	p.R166fs	MPP2_ENST00000520305.1_Frame_Shift_Del_p.R27fs|MPP2_ENST00000518766.1_Frame_Shift_Del_p.R211fs|MPP2_ENST00000461854.1_Frame_Shift_Del_p.R190fs|MPP2_ENST00000377184.3_Frame_Shift_Del_p.R183fs|MPP2_ENST00000523501.1_Frame_Shift_Del_p.R155fs|MPP2_ENST00000536246.1_Frame_Shift_Del_p.R155fs|MPP2_ENST00000473246.1_5'UTR	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	190					signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CATGCAGAATGCGCGCGATCAC	0.609													44	77	---	---	---	---					
ZNF224	7767	broad.mit.edu	37	19	44610618	44610618	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr19:44610618delA	ENST00000336976.6	+	6	559	c.305delA	c.(304-306)cafs	p.Q102fs	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	102					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				TCCTTCCAGCAAATCTGGGAA	0.418													44	75	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085949	11085960	+	RNA	DEL	CACCACCATCAA	CACCACCATCAA	-	rs28492045	by1000genomes	TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr21:11085949_11085960delCACCACCATCAA	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															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)		tcaccaccaccaccaccatcaacaccacACTG	0.500													2	4	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41516604	41516604	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chr21:41516604delG	ENST00000400454.1	-	17	3550	c.3073delC	c.(3073-3075)gafs	p.R1025fs		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1025	Fibronectin type-III 2.				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)				CTGTACTCTCGGTAACCTATT	0.453													39	82	---	---	---	---					
UPF3B	65109	broad.mit.edu	37	X	118979179	118979180	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4727-01A-01D-1434-08	TCGA-CN-4727-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b24fc60a-fe83-4743-a6d3-d90b807412e1	53489efb-ec71-4932-9980-aaacd8347b17	g.chrX:118979179_118979180insT	ENST00000276201.2	-	4	519_520	c.450_451insA	c.(448-453)aatcggfs	p.NR150fs	UPF3B_ENST00000345865.2_Frame_Shift_Ins_p.NR150fs|UPF3B_ENST00000478840.1_5'UTR	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	150	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						ATAGTCCCGACTTTGGTATCTC	0.342													37	66	---	---	---	---