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
ZNF433	163059	broad.mit.edu	37	19	12126251	12126251	+	Silent	SNP	C	C	T			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr19:12126251C>T	ENST00000419886.2	-	5	1617	c.1326G>A	c.(1324-1326)ccG>ccA	p.P442P	ZNF433_ENST00000344980.6_Silent_p.P477P|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000495324.1_RNA			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						TACATTCATACGGCTTCTCTT	0.388000													19	41					0	0	1	0	0
IL22RA1	58985	broad.mit.edu	37	1	24465129	24465129	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr1:24465129G>A	ENST00000270800.1	-	2	157	c.119C>T	c.(118-120)aCg>aTg	p.T40M		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	40	Fibronectin type-III 1.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		GCTGTCCCACGTCAGGATGTT	0.582000													14	84					0	0	1	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													3	73					0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113530144	113530144	+	Silent	SNP	C	C	T			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr13:113530144C>T	ENST00000487903.1	+	28	3304	c.3216C>T	c.(3214-3216)agC>agT	p.S1072S	ATP11A_ENST00000375645.3_Silent_p.S1072S|ATP11A_ENST00000375630.2_Silent_p.S1072S|ATP11A_ENST00000283558.8_Silent_p.S1072S			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	1072					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TGCTGTCCAGCGGGCCCGCCT	0.612000													69	23					0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231334791	231334791	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr2:231334791C>A	ENST00000264052.5	+	15	1762	c.1407C>A	c.(1405-1407)agC>agA	p.S469R	SP100_ENST00000427101.2_Missense_Mutation_p.S441R|SP100_ENST00000409897.1_Missense_Mutation_p.S434R|SP100_ENST00000409341.1_Missense_Mutation_p.S469R|SP100_ENST00000340126.4_Missense_Mutation_p.S469R|SP100_ENST00000409824.1_Missense_Mutation_p.S444R|SP100_ENST00000409112.1_Missense_Mutation_p.S469R	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	469					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAACCTGCAGCTCATCCCTAA	0.428000													3	27					1	1	1	1	0
GK5	256356	broad.mit.edu	37	3	141884548	141884548	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr3:141884548C>A	ENST00000392993.2	-	16	1657	c.1506G>T	c.(1504-1506)caG>caT	p.Q502H		NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	502					glycerol metabolic process		ATP binding|glycerol kinase activity			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						GACATTTCTTCTGTGGCTTGA	0.353000													87	209					9.1841e-55	1.11382e-54	1	1	0
PTCHD1	139411	broad.mit.edu	37	X	23411520	23411520	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chrX:23411520G>A	ENST00000379361.4	+	3	2745	c.1885G>A	c.(1885-1887)Gac>Aac	p.D629N		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	629					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TTTTCAAGAGGACATCATCTT	0.398000													37	64					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91727872	91727872	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr1:91727872G>T	ENST00000370425.3	-	38	4262	c.4164C>A	c.(4162-4164)aaC>aaA	p.N1388K	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.N1067K|HFM1_ENST00000294696.5_3'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1388							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AAGAATTTGGGTTTTTTTCAG	0.284000													50	83					4.00472e-15	4.61149e-15	1	1	0
DOCK2	1794	broad.mit.edu	37	5	169508958	169508958	+	Silent	SNP	G	G	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr5:169508958G>A	ENST00000256935.8	+	51	5480	c.5400G>A	c.(5398-5400)cgG>cgA	p.R1800R	DOCK2_ENST00000520908.1_Silent_p.R1292R|DOCK2_ENST00000540750.1_Silent_p.R861R|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1800					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACTCACACGGAAGAAGGTCA	0.527000													31	49					0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs149337771	by1000genomes	TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104																											TTGAAACAGCTGGTGTATTAA	0.373000													5	16					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													5	39					0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50720993	50720993	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr19:50720993C>A	ENST00000440075.2	+	3	574	c.527C>A	c.(526-528)gCa>gAa	p.A176E	MYH14_ENST00000598205.1_Missense_Mutation_p.A176E|MYH14_ENST00000596571.1_Missense_Mutation_p.A176E|MYH14_ENST00000262269.8_Missense_Mutation_p.A176E|MYH14_ENST00000601313.1_Missense_Mutation_p.A176E|MYH14_ENST00000425460.1_Missense_Mutation_p.A176E|MYH14_ENST00000376970.2_Missense_Mutation_p.A176E			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	176	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CACGTGTACGCAGTGACCGAG	0.637000													42	71					2.56175e-15	2.97999e-15	1	1	0
DIP2B	57609	broad.mit.edu	37	12	51072578	51072578	+	Missense_Mutation	SNP	C	C	T	rs145274091		TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr12:51072578C>T	ENST00000301180.5	+	8	1067	c.1033C>T	c.(1033-1035)Cgc>Tgc	p.R345C		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	345						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TGCCCTGCAGCGCTGGGGTAC	0.532000													36	64					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													3	33					0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151804261	151804261	+	Translation_Start_Site	SNP	G	G	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr1:151804261G>A	ENST00000318247.6	-	0	87					NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C						regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCTTGGTGCCGTCCTGGCTGC	0.711000													45	78					0	0	1	0	0
HRASLS	57110	broad.mit.edu	37	3	192980878	192980878	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr3:192980878G>C	ENST00000264735.2	+	3	668	c.574G>C	c.(574-576)Gat>Cat	p.D192H	HRASLS_ENST00000602513.1_Missense_Mutation_p.D87H	NM_020386.4	NP_065119.2	Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	87								p.D87Y(1)		breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		CAATAAATACGATGAAACGTA	0.433000													78	203					0	0	1	0	0
RP11-383M4.6	0	broad.mit.edu	37	9	84549429	84549429	+	RNA	SNP	T	T	C			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr9:84549429T>C	ENST00000585776.1	-	0	1039				SPATA31D4_ENST00000341875.4_RNA																							AGAACCCTTTTCCTTCCCAGT	0.527000													4	18					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			41	85					0	0	1	0	0
ACVRL1	94	broad.mit.edu	37	12	52307464	52307464	+	Silent	SNP	G	G	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr12:52307464G>A	ENST00000550683.1	+	3	578	c.477G>A	c.(475-477)cgG>cgA	p.R159R	ACVRL1_ENST00000388922.4_Silent_p.R145R|ACVRL1_ENST00000419526.2_Intron	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	145					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	ATGTCCGACGGAGGCAGGAGA	0.662000													20	28					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78208916	78208916	+	RNA	SNP	C	C	G	rs56290535	by1000genomes	TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr15:78208916C>G	ENST00000565869.1	+	0	53																											TCCAGATGTTCTCCTCCATCT	0.627000													5	73					0	0	1	0	0
TIMP2	7077	broad.mit.edu	37	17	76851860	76851860	+	Silent	SNP	G	G	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr17:76851860G>A	ENST00000262768.7	-	5	850	c.552C>T	c.(550-552)aaC>aaT	p.N184N	TIMP2_ENST00000536189.2_Silent_p.N107N|TIMP2_ENST00000585421.1_Silent_p.N107N|RP11-323N12.5_ENST00000587434.1_RNA|TIMP2_ENST00000586057.1_Silent_p.N107N	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2	184							metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			CCTGGTGCCCGTTGATGTTCT	0.632000													43	65					0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132736645	132736645	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr5:132736645C>A	ENST00000265342.7	-	4	443	c.194G>T	c.(193-195)tGc>tTc	p.C65F		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	65						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTCTTCCCGCAGGAGGCCAG	0.627000													12	26					3.27435e-08	3.62404e-08	1	1	0
PELI2	57161	broad.mit.edu	37	14	56755238	56755238	+	Silent	SNP	C	C	T			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr14:56755238C>T	ENST00000267460.4	+	4	679	c.393C>T	c.(391-393)atC>atT	p.I131I		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	131					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						AAGCCCAGATCACACAGAGCA	0.502000													16	26					0	0	1	0	0
HS6ST1	9394	broad.mit.edu	37	2	129026403	129026403	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr2:129026403C>G	ENST00000259241.6	-	2	582	c.569G>C	c.(568-570)cGc>cCc	p.R190P		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	190	3'-phosphate binding (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GCTCAGGTAGCGGGACACGGG	0.642000													19	53					0	0	1	0	0
CDSN	1041	broad.mit.edu	37	6	31084322	31084322	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr6:31084322A>G	ENST00000376288.2	-	2	1096	c.1070T>C	c.(1069-1071)aTc>aCc	p.I357T	PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	357	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						CTGGCTGGGGATGATGGGGTT	0.622000													5	28					0	0	1	0	0
HAO1	54363	broad.mit.edu	37	20	7920988	7920988	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr20:7920988T>C	ENST00000378789.3	-	1	133	c.82A>G	c.(82-84)Agg>Ggg	p.R28G		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	28	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCCCCAGACCTGTAATAGTCA	0.313000													3	186					0	0	1	0	0
FAM120A	23196	broad.mit.edu	37	9	96291641	96291641	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr9:96291641G>A	ENST00000277165.6	+	9	1707	c.1513G>A	c.(1513-1515)Ggc>Agc	p.G505S	FAM120A_ENST00000375389.3_Missense_Mutation_p.G505S|FAM120A_ENST00000333936.5_Missense_Mutation_p.G533S|FAM120A_ENST00000340893.4_Missense_Mutation_p.G505S	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	505						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTAGGCAGAAGGCTCGTCCAC	0.537000													33	37					0	0	1	0	0
KIAA1524	57650	broad.mit.edu	37	3	108285471	108285471	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr3:108285471C>A	ENST00000295746.8	-	11	1364	c.1288G>T	c.(1288-1290)Gat>Tat	p.D430Y	KIAA1524_ENST00000491772.1_Missense_Mutation_p.D271Y|KIAA1524_ENST00000487834.1_5'UTR	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	430						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTTAGTGTATCATCTCCACAG	0.303000													4	172					0.00909568	0.00969072	1	1	0
CEACAM3	1084	broad.mit.edu	37	19	42301736	42301736	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr19:42301736G>A	ENST00000357396.3	+	2	521	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM3_ENST00000344550.4_Missense_Mutation_p.A94T|CEACAM3_ENST00000221999.4_Missense_Mutation_p.A94T|CEACAM3_ENST00000595255.1_3'UTR	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	94	Ig-like V-type.					integral to membrane		p.A94T(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						CCCAGGGGCCGCATACAGCGG	0.463000													4	298					0	0	1	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724510	38724510	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr14:38724510C>A	ENST00000342213.2	-	1	1064	c.718G>T	c.(718-720)Ggc>Tgc	p.G240C		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	240						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		AACACATCGCCCGAGAGTTTG	0.622000													21	338					6.44725e-10	7.2771e-10	1	1	0
DNM2	1785	broad.mit.edu	37	19	10887831	10887831	+	Silent	SNP	G	G	C			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr19:10887831G>C	ENST00000314646.5	+	5	791	c.627G>C	c.(625-627)ctG>ctC	p.L209L	DNM2_ENST00000408974.4_Silent_p.L209L|DNM2_ENST00000359692.6_Silent_p.L209L|DNM2_ENST00000355667.6_Silent_p.L209L|DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000389253.4_Silent_p.L209L|DNM2_ENST00000585892.1_Silent_p.L209L			P50570	DYN2_HUMAN	dynamin 2	209					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			AGCTTGACCTGATGGACGAGG	0.597000			"""F, N, Splice, Mis, O"""		ETP ALL								27	60					0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5664846	5664846	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr4:5664846T>G	ENST00000310917.2	-	9	1624	c.893A>C	c.(892-894)cAa>cCa	p.Q298P	EVC2_ENST00000344408.5_Missense_Mutation_p.Q378P|EVC2_ENST00000344938.1_Missense_Mutation_p.Q378P	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	378						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TTCTAAGGCTTGAAGCATGCT	0.433000													37	133					0	0	1	0	0
LDB1	8861	broad.mit.edu	37	10	103867955	103867955	+	Silent	SNP	G	G	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr10:103867955G>A	ENST00000361198.5	-	11	1646	c.1023C>T	c.(1021-1023)agC>agT	p.S341S	LDB1_ENST00000425280.1_Silent_p.S377S	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	377	LIM-binding domain (LID) (By similarity).				histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		AGTTGTTAAAGCTGTCCTCGT	0.622000													71	117					0	0	1	0	0
SLC22A5	6584	broad.mit.edu	37	5	131721136	131721136	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr5:131721136C>T	ENST00000245407.3	+	4	990	c.769C>T	c.(769-771)Cgg>Tgg	p.R257W	SLC22A5_ENST00000435065.2_Missense_Mutation_p.R281W	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	257			R -> W (in CDSP).		positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	CCGAGACTGGCGGATGCTGCT	0.522000											OREG0016766	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	87					0	0	1	0	0
AKT3	10000	broad.mit.edu	37	1	243727052	243727052	+	Silent	SNP	G	G	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr1:243727052G>A	ENST00000366539.1	-	10	1118	c.918C>T	c.(916-918)ttC>ttT	p.F306F	AKT3_ENST00000366540.1_Silent_p.F306F|AKT3_ENST00000336199.5_Silent_p.F306F|AKT3_ENST00000263826.5_Silent_p.F306F			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	306	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			GAGTGCCACAGAATGTCTTCA	0.398000													38	131					0	0	1	0	0
FNIP1	96459	broad.mit.edu	37	5	130987626	130987626	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr5:130987626C>G	ENST00000307968.7	-	15	3090	c.3091G>C	c.(3091-3093)Gtt>Ctt	p.V1031L	FNIP1_ENST00000510461.1_Missense_Mutation_p.V1059L|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Missense_Mutation_p.V1014L	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		GCCACTTGAACAGTCCATTTA	0.383000													30	67					0	0	1	0	0
IL1RAP	3556	broad.mit.edu	37	3	190366168	190366168	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr3:190366168C>T	ENST00000412504.2	+	11	1639	c.1387C>T	c.(1387-1389)Cgc>Tgc	p.R463C	IL1RAP_ENST00000439062.1_Missense_Mutation_p.R463C|IL1RAP_ENST00000317757.3_Intron|IL1RAP_ENST00000443369.2_Intron|IL1RAP_ENST00000447382.1_Missense_Mutation_p.R463C|IL1RAP_ENST00000072516.3_Missense_Mutation_p.R463C			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	463	TIR.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GAAAAGCAGACGCCTCCTGGT	0.502000													120	343					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328310	88328310	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr13:88328310C>G	ENST00000325089.6	+	2	886	c.667C>G	c.(667-669)Cac>Gac	p.H223D	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	223						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCTCTTGCAGCACATGGATAA	0.498000													4	137					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38154082	38154082	+	Silent	SNP	C	C	G			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr22:38154082C>G	ENST00000406386.3	+	16	6405	c.6150C>G	c.(6148-6150)ctC>ctG	p.L2050L	TRIOBP_ENST00000403663.2_Silent_p.L337L|RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000407319.2_Silent_p.L337L	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2050					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CTGCCCTGCTCAACCAAAGCC	0.642000													10	16					0	0	1	0	0
ROCK1	6093	broad.mit.edu	37	18	18547018	18547018	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr18:18547018G>A	ENST00000399799.1	-	27	4152	c.3212C>T	c.(3211-3213)gCa>gTa	p.A1071V		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1071					actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					ATTCCTATGTGCACATTCTTC	0.333000													63	96					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49418485	49418485	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr12:49418485C>T	ENST00000301067.7	-	50	15927	c.15928G>A	c.(15928-15930)Ggg>Agg	p.G5310R		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CTCTCCACCCCGGGCAGCTGT	0.582000													16	20					0	0	1	0	0
TMEM79	84283	broad.mit.edu	37	1	156255560	156255560	+	Silent	SNP	G	G	A	rs140033065	byFrequency	TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr1:156255560G>A	ENST00000405535.2	+	2	714	c.543G>A	c.(541-543)ccG>ccA	p.P181P	TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000357501.2_Intron|TMEM79_ENST00000295694.5_Silent_p.P181P	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	181						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					TGGTGAGGCCGCCTGGCTGTT	0.682000													35	52					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87653773	87653773	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr4:87653773G>A	ENST00000436978.1	+	12	2192	c.1712G>A	c.(1711-1713)cGa>cAa	p.R571Q	PTPN13_ENST00000316707.6_Missense_Mutation_p.R571Q|PTPN13_ENST00000511467.1_Missense_Mutation_p.R571Q|PTPN13_ENST00000427191.2_Missense_Mutation_p.R571Q|PTPN13_ENST00000411767.2_Missense_Mutation_p.R571Q	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	571						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GAGGATAACCGAAGGAAAGTA	0.328000													30	68					0	0	1	0	0
TTC1	7265	broad.mit.edu	37	5	159437650	159437650	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr5:159437650C>A	ENST00000231238.5	+	2	225	c.115C>A	c.(115-117)Cag>Aag	p.Q39K	TTC1_ENST00000522793.1_Missense_Mutation_p.Q39K	NM_003314.1	NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	39					protein folding		unfolded protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		TCCCAAAAATCAGCATTCCCA	0.507000													3	46					1	1	1	1	0
BTAF1	9044	broad.mit.edu	37	10	93719841	93719841	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr10:93719841T>G	ENST00000265990.6	+	11	1501	c.1193T>G	c.(1192-1194)cTt>cGt	p.L398R	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	398					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CTAAAATTACTTACACAAGAA	0.393000													61	111					0	0	1	0	0
OR2A7	401427	broad.mit.edu	37	7	143956023	143956023	+	Silent	SNP	C	C	T			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr7:143956023C>T	ENST00000493325.1	-	1	792	c.699G>A	c.(697-699)caG>caA	p.Q233Q	ARHGEF35_ENST00000543357.1_Intron|RP4-545C24.1_ENST00000460955.1_RNA|RP4-798C17.6_ENST00000478806.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000461843.1_RNA|RP4-798C17.6_ENST00000463561.1_RNA|RP4-798C17.6_ENST00000489488.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					AGGCTTTCCTCTGAACTTCCC	0.483000													47	268					0	0	1	0	0
HIST1H4C	8364	broad.mit.edu	37	6	26104203	26104203	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr6:26104203G>C	ENST00000377803.2	+	1	100	c.28G>C	c.(28-30)Ggc>Cgc	p.G10R		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	10					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						AGGCGGAAAAGGCTTGGGGAA	0.527000													33	67					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44976120	44976120	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr14:44976120C>A	ENST00000340446.4	-	1	362	c.71G>T	c.(70-72)aGc>aTc	p.S24I		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	24						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AGCTTTGGGGCTAGATGATTT	0.423000													145	202					2.99446e-77	3.67062e-77	1	1	0
ENDOV	284131	broad.mit.edu	37	17	78389501	78389501	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr17:78389501G>A	ENST00000518137.1	+	2	136	c.108G>A	c.(106-108)tgG>tgA	p.W36*	ENDOV_ENST00000521847.1_3'UTR|ENDOV_ENST00000522751.1_5'UTR|ENDOV_ENST00000518907.1_Intron|ENDOV_ENST00000520284.1_5'UTR|ENDOV_ENST00000323854.5_Nonsense_Mutation_p.W36*|ENDOV_ENST00000518644.1_5'UTR|ENDOV_ENST00000520367.1_Nonsense_Mutation_p.W36*|ENDOV_ENST00000517295.2_5'UTR|ENDOV_ENST00000523999.1_Nonsense_Mutation_p.W36*|ENDOV_ENST00000518901.1_Intron|ENDOV_ENST00000517795.1_Intron	NM_173627.3	NP_775898.2	Q8N8Q3	ENDOV_HUMAN	endonuclease V	36					DNA repair		endodeoxyribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding			endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						CCGAGGCGTGGCAGCGAGACC	0.642000								Direct reversal of damage					3	20					0	0	1	0	0
REG1B	5968	broad.mit.edu	37	2	79313560	79313560	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr2:79313560G>T	ENST00000305089.3	-	4	334	c.254C>A	c.(253-255)gCc>gAc	p.A85D		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	85	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						AATCAGTGAGGCCACGAAGGC	0.502000													56	66					2.5401e-28	3.04812e-28	1	1	0
MLST8	64223	broad.mit.edu	37	16	2258607	2258607	+	Silent	SNP	C	C	T			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr16:2258607C>T	ENST00000569417.1	+	8	1209	c.855C>T	c.(853-855)atC>atT	p.I285I	MLST8_ENST00000397124.1_Silent_p.I285I|MLST8_ENST00000564088.1_Silent_p.I285I|MLST8_ENST00000565250.1_Silent_p.I285I|MLST8_ENST00000382450.4_Silent_p.I284I|MLST8_ENST00000301724.10_Silent_p.I285I|MLST8_ENST00000301725.7_3'UTR	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	285					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						CCCAGTACATCGTCACTGGTG	0.711000													46	70					0	0	1	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784277	30784277	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr20:30784277C>T	ENST00000246229.4	-	3	1733	c.1469G>A	c.(1468-1470)cGt>cAt	p.R490H		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	490						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TTGATGGAAACGAGGCAGGGT	0.577000													20	142					0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657530	143657530	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr7:143657530C>G	ENST00000392899.1	+	1	504	c.467C>G	c.(466-468)tCt>tGt	p.S156C		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TTCATCAGCTCTCCTGTGCAG	0.522000													38	68					0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62660835	62660835	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr20:62660835C>T	ENST00000535781.1	+	18	2528	c.2417C>T	c.(2416-2418)gCc>gTc	p.A806V	ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	846					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GTGCTCCTGGCCGTGGCCAAG	0.587000													4	187					0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20622730	20622730	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr11:20622730C>T	ENST00000525748.1	+	2	332	c.59C>T	c.(58-60)gCg>gTg	p.A20V		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	20					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)	CCGGAGGCGGCGGCGGCGCAG	0.652000													8	7					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													5	34					0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35800939	35800939	+	Missense_Mutation	SNP	G	G	A	rs147583558		TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr19:35800939G>A	ENST00000361922.4	+	8	1544	c.1394G>A	c.(1393-1395)cGc>cAc	p.R465H	MAG_ENST00000593348.1_3'UTR|MAG_ENST00000392213.3_Missense_Mutation_p.R465H|MAG_ENST00000537831.2_Missense_Mutation_p.R440H	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	465	Ig-like C2-type 4.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TACTCGGAGCGCAGCGGCCTC	0.677000													36	64					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139402754	139402754	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr9:139402754G>C	ENST00000277541.6	-	20	3330	c.3255C>G	c.(3253-3255)tgC>tgG	p.C1085W		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1085	EGF-like 28.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGCCGCTGGGGCACTCGCAGC	0.652000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			36	65					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42005532	42005532	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr7:42005532G>T	ENST00000395925.3	-	15	3223	c.3139C>A	c.(3139-3141)Cag>Aag	p.Q1047K	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1047					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GTGTAATTCTGAAGCACGAGA	0.672000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				16	22					1.15088e-07	1.26154e-07	1	1	0
PARP4	143	broad.mit.edu	37	13	25068806	25068806	+	Missense_Mutation	SNP	C	C	G	rs145170390		TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr13:25068806C>G	ENST00000381989.3	-	7	751	c.646G>C	c.(646-648)Gaa>Caa	p.E216Q		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	216					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		ATGTAATTTTCAAAGTATTCA	0.338000													43	17					0	0	1	0	0
HTR2B	3357	broad.mit.edu	37	2	231973477	231973477	+	Silent	SNP	C	C	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr2:231973477C>A	ENST00000258400.3	-	4	1712	c.1200G>T	c.(1198-1200)cgG>cgT	p.R400R	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000488354.1_3'UTR	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	400					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	ACTTTGTGGCCCGGTAATTGC	0.428000													4	147					0.00909568	0.00969072	1	1	0
RALBP1	10928	broad.mit.edu	37	18	9535827	9535827	+	Silent	SNP	G	G	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr18:9535827G>A	ENST00000019317.4	+	10	2083	c.1860G>A	c.(1858-1860)ccG>ccA	p.P620P	RALBP1_ENST00000383432.3_Silent_p.P620P			Q15311	RBP1_HUMAN	ralA binding protein 1	620					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						CCGTCCAGCCGCCCAGAGACG	0.667000													6	11					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13871017	13871017	+	Silent	SNP	G	G	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr5:13871017G>A	ENST00000265104.4	-	24	3797	c.3693C>T	c.(3691-3693)aaC>aaT	p.N1231N	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1231	Stem (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)					GCATAAAAATGTTTTCCATCT	0.408000									Kartagener syndrome				37	191					0	0	1	0	0
UFL1	23376	broad.mit.edu	37	6	96990812	96990812	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr6:96990812G>A	ENST00000369278.4	+	12	1388	c.1322G>A	c.(1321-1323)aGa>aAa	p.R441K		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	441					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity										GGCAATGCCAGAGAGTACAAA	0.378000													37	53					0	0	1	0	0
YWHAQ	10971	broad.mit.edu	37	2	9770492	9770492	+	Silent	SNP	G	G	C			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr2:9770492G>C	ENST00000381844.4	-	1	253	c.90C>G	c.(88-90)acC>acG	p.T30T	YWHAQ_ENST00000238081.3_Silent_p.T30T			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide	30					negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		CGCCCTGCTCGGTCACTGCCT	0.662000													25	28					0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50216294	50216294	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr19:50216294C>G	ENST00000392518.4	+	19	2571	c.2199C>G	c.(2197-2199)atC>atG	p.I733M	CPT1C_ENST00000354199.5_Missense_Mutation_p.I644M|CPT1C_ENST00000405931.2_Missense_Mutation_p.I722M|CPT1C_ENST00000598293.1_Missense_Mutation_p.I733M|CPT1C_ENST00000323446.5_Missense_Mutation_p.I733M	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	733					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CCTTCCACATCTCCAGCAAAA	0.493000													121	214					0	0	1	0	0
LRRC41	10489	broad.mit.edu	37	1	46745880	46745880	+	Silent	SNP	C	C	T			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr1:46745880C>T	ENST00000343304.6	-	7	2289	c.2004G>A	c.(2002-2004)caG>caA	p.Q668Q	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	668										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GAGTCAGATTCTGTAGCAAAA	0.468000													25	67					0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63852287	63852287	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr10:63852287T>C	ENST00000279873.7	+	10	3475	c.3065T>C	c.(3064-3066)gTg>gCg	p.V1022A	ARID5B_ENST00000309334.5_Missense_Mutation_p.V779A	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1022					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TTGGACCTTGTGATTGCAGGG	0.587000													72	113					0	0	1	0	0
CLDN15	24146	broad.mit.edu	37	7	100877667	100877667	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr7:100877667C>T	ENST00000401528.1	-	3	1399	c.274G>A	c.(274-276)Ggc>Agc	p.G92S	CLDN15_ENST00000308344.5_Missense_Mutation_p.G92S|CLDN15_ENST00000433422.1_5'UTR	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN	claudin 15	92					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					AGCAAGAGGCCGAGGAAGCCC	0.647000													27	71					0	0	1	0	0
MAP3K12	7786	broad.mit.edu	37	12	53876860	53876860	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr12:53876860C>A	ENST00000267079.2	-	12	1853	c.1628G>T	c.(1627-1629)gGc>gTc	p.G543V	MAP3K12_ENST00000547488.1_Missense_Mutation_p.G576V|MAP3K12_ENST00000547035.1_Missense_Mutation_p.G576V	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	543					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						ACGGGTCTTGCCACGGCGACT	0.647000													36	40					1.42033e-22	1.68664e-22	1	1	0
ADAM33	80332	broad.mit.edu	37	20	3652265	3652265	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr20:3652265C>T	ENST00000356518.2	-	16	2109	c.1868G>A	c.(1867-1869)gGc>gAc	p.G623D	ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000350009.2_Missense_Mutation_p.G623D|ADAM33_ENST00000379861.4_Missense_Mutation_p.G623D	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	623	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CTCTACCAGGCCCAGGCCAAG	0.632000													3	29					0	0	1	0	0
GMPPA	29926	broad.mit.edu	37	2	220368880	220368880	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr2:220368880G>A	ENST00000358215.3	+	7	934	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K	GMPPA_ENST00000341142.3_Missense_Mutation_p.E189K|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373908.1_Missense_Mutation_p.E189K|GMPPA_ENST00000373917.3_Missense_Mutation_p.E189K|GMPPA_ENST00000313597.5_Missense_Mutation_p.E189K	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	189					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CTTTTCTCCTGAAGCCTTGAA	0.527000													5	128					0	0	1	0	0
LGMN	5641	broad.mit.edu	37	14	93182496	93182496	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr14:93182496C>T	ENST00000393218.2	-	6	726	c.389G>A	c.(388-390)gGc>gAc	p.G130D	LGMN_ENST00000555699.1_Missense_Mutation_p.G130D|LGMN_ENST00000557434.1_Missense_Mutation_p.G130D|LGMN_ENST00000334869.4_Missense_Mutation_p.G130D	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	130					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		CAGGACTTTGCCGGATCCTAT	0.468000													4	198					0	0	1	0	0
BCL2L1	598	broad.mit.edu	37	20	30310086	30310086	+	Translation_Start_Site	SNP	G	G	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr20:30310086G>A	ENST00000307677.4	-	0	346				BCL2L1_ENST00000420653.1_De_novo_Start_InFrame|BCL2L1_ENST00000376062.2_De_novo_Start_InFrame|BCL2L1_ENST00000376055.4_De_novo_Start_InFrame	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1						induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			ACTGAGTCTCGTCTCTGGTTA	0.418000													18	68					0	0	1	0	0
CDC25B	994	broad.mit.edu	37	20	3781917	3781917	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr20:3781917G>A	ENST00000245960.5	+	8	1419	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	CDC25B_ENST00000340833.4_Missense_Mutation_p.R200Q|CDC25B_ENST00000379598.5_Missense_Mutation_p.R177Q|CDC25B_ENST00000344256.6_Missense_Mutation_p.R177Q|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000439880.2_Missense_Mutation_p.R227Q	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	241					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						AGTCCTGACCGGAAGATGGAA	0.562000													5	238					0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177142616	177142616	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr4:177142616C>T	ENST00000296525.3	-	4	633	c.520G>A	c.(520-522)Gag>Aag	p.E174K	ASB5_ENST00000512254.1_Missense_Mutation_p.E121K	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)		CTGGCGGCCTCATGCGTTGGG	0.488000													68	106					0	0	1	0	0
ACTR1B	10120	broad.mit.edu	37	2	98274472	98274472	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr2:98274472C>T	ENST00000289228.5	-	8	1075	c.859G>A	c.(859-861)Gac>Aac	p.D287N		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	287						centrosome|dynactin complex	ATP binding|protein binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						AGGTCCATGTCGGACTTGTGT	0.607000													5	128					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856710	53856710	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr19:53856710T>G	ENST00000458035.1	+	4	2899	c.2782T>G	c.(2782-2784)Tca>Gca	p.S928A	ZNF845_ENST00000595091.1_Missense_Mutation_p.S928A	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	928					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						CCGTCACAATTCAGTCCTTGT	0.373000													14	21					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373000													5	610					0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7751611	7751611	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr17:7751611C>T	ENST00000254846.5	+	11	2394	c.2005C>T	c.(2005-2007)Cga>Tga	p.R669*	KDM6B_ENST00000448097.2_Nonsense_Mutation_p.R669*	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	669	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCGAGGCCCTCGACTCTTTGA	0.647000													61	79					0	0	1	0	0
PKD2	5311	broad.mit.edu	37	4	88973183	88973183	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr4:88973183C>G	ENST00000237596.2	+	7	1655	c.1589C>G	c.(1588-1590)tCa>tGa	p.S530*	PKD2_ENST00000508588.1_5'UTR	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	530						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TACAGAACATCAAATGTGGAG	0.333000													18	80					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14960293	14960293	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr3:14960293C>A	ENST00000285046.5	+	13	3632	c.3522C>A	c.(3520-3522)taC>taA	p.Y1174*	FGD5_ENST00000543601.1_Nonsense_Mutation_p.Y933*|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1174	PH 1.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AAGTGCCCTACGCTCTAAAGA	0.602000													19	9					3.5997e-14	4.10366e-14	1	1	0
ZNF90	7643	broad.mit.edu	37	19	20228642	20228642	+	Silent	SNP	T	T	C			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr19:20228642T>C	ENST00000418063.2	+	4	391	c.279T>C	c.(277-279)gaT>gaC	p.D93D	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	93						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						GCCTAAAAGATTCCTTCCAAA	0.343000													5	24					0	0	1	0	0
EIF2B5	8893	broad.mit.edu	37	3	183855991	183855991	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr3:183855991G>A	ENST00000273783.3	+	5	844	c.722G>A	c.(721-723)cGa>cAa	p.R241Q	EIF2B5_ENST00000444495.1_Missense_Mutation_p.R241Q	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	241					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GTGGAGGTTCGATATGATTTA	0.483000													46	117					0	0	1	0	0
PSMD3	5709	broad.mit.edu	37	17	38142868	38142868	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr17:38142868C>A	ENST00000264639.4	+	3	626	c.452C>A	c.(451-453)aCg>aAg	p.T151K	PSMD3_ENST00000541736.1_Missense_Mutation_p.T13K	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	151					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 ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					CGTCCCCGCACGGGAAAAGCT	0.502000													4	314					0.150653	0.154725	1	1	0
GRN	2896	broad.mit.edu	37	17	42427094	42427094	+	Silent	SNP	C	C	T			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr17:42427094C>T	ENST00000053867.3	+	4	386	c.324C>T	c.(322-324)gaC>gaT	p.D108D	GRN_ENST00000589265.1_Silent_p.D108D	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	108					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCAGTGCAGACGGGCGATCCT	0.637000													18	36					0	0	1	0	0
SLC29A4	222962	broad.mit.edu	37	7	5338650	5338650	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr7:5338650A>G	ENST00000396872.2	+	8	1075	c.914A>G	c.(913-915)gAg>gGg	p.E305G	SLC29A4_ENST00000297195.4_Missense_Mutation_p.E305G|SLC29A4_ENST00000406453.3_Missense_Mutation_p.E291G	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	305					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GCCCCCAACGAGTCCCCAAAG	0.692000													4	45					0	0	1	0	0
JADE1	79960	broad.mit.edu	37	4	129792809	129792809	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr4:129792809C>T	ENST00000226319.6	+	11	2201	c.1921C>T	c.(1921-1923)Cgt>Tgt	p.R641C	PHF17_ENST00000512960.1_Missense_Mutation_p.R641C|PHF17_ENST00000452328.2_Missense_Mutation_p.R629C	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN		641					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TGCAGAAGCACGTCTCATATC	0.458000													42	70					0	0	1	0	0
NCAPH2	29781	broad.mit.edu	37	22	50961570	50961570	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr22:50961570G>C	ENST00000395701.3	+	19	1746	c.1652G>C	c.(1651-1653)cGt>cCt	p.R551P	NCAPH2_ENST00000299821.11_Missense_Mutation_p.R552P|NCAPH2_ENST00000420993.2_Missense_Mutation_p.R551P			Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	551					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		GAGGTGTGTCGTTCCATGCTG	0.647000													10	14					0	0	1	0	0
CD38	952	broad.mit.edu	37	4	15818249	15818249	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr4:15818249G>A	ENST00000226279.2	+	2	486	c.349G>A	c.(349-351)Gta>Ata	p.V117I		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	117					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity	p.V117I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						AACTCAGACCGTACCTTGCAA	0.378000													4	152					0	0	1	0	0
HNF1B	6928	broad.mit.edu	37	17	36091723	36091723	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr17:36091723C>T	ENST00000225893.4	-	4	1269	c.908G>A	c.(907-909)cGc>cAc	p.R303H	HNF1B_ENST00000427275.2_Missense_Mutation_p.R277H|HNF1B_ENST00000560016.1_Missense_Mutation_p.R303H|HNF1B_ENST00000561193.1_Missense_Mutation_p.R277H	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	303					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			CTCCTTCCTGCGGTTTGCAAA	0.607000													59	100					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7639365	7639365	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr12:7639365C>A	ENST00000359156.4	-	10	2390	c.2188G>T	c.(2188-2190)Ggg>Tgg	p.G730W	CD163_ENST00000396620.3_Missense_Mutation_p.G763W|CD163_ENST00000541972.1_Missense_Mutation_p.G718W|CD163_ENST00000432237.2_Missense_Mutation_p.G730W	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	730	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TCTACTCTCCCAGCACAGCGA	0.483000													9	205					0.00448238	0.00486659	1	1	0
AGO3	192669	broad.mit.edu	37	1	36474311	36474311	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr1:36474311C>G	ENST00000373191.4	+	7	1163	c.814C>G	c.(814-816)Cat>Gat	p.H272D	RP4-665N4.8_ENST00000466576.2_RNA|AGO3_ENST00000246314.6_Missense_Mutation_p.H38D	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3																		TGAAGTGACTCATTGTGGAAC	0.393000													39	100					0	0	1	0	0
SCAF8	22828	broad.mit.edu	37	6	155145427	155145427	+	Silent	SNP	G	G	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr6:155145427G>A	ENST00000367178.3	+	17	2562	c.1986G>A	c.(1984-1986)tcG>tcA	p.S662S	SCAF8_ENST00000367186.4_Silent_p.S728S|SCAF8_ENST00000417268.1_Silent_p.S662S	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	662	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TTCCTGTGTCGATGCCGGTTC	0.458000													89	202					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48746781	48746781	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr17:48746781C>A	ENST00000285238.8	+	17	2213	c.2133C>A	c.(2131-2133)ttC>ttA	p.F711L		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	711	ABC transporter 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	ACGTGCTTTTCGGCAAAGCCC	0.582000													4	137					1	1	1	1	0
ARID1A	8289	broad.mit.edu	37	1	27100182	27100184	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr1:27100182_27100184delGCA	ENST00000324856.7	+	16	4349_4351	c.3978_3980delGCA	c.(3976-3981)ccg>cc	p.PQ1326del	ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_In_Frame_Del_p.PQ1326del|ARID1A_ENST00000374152.2_In_Frame_Del_p.PQ943del	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1326					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Q1327*(1)|p.Q1334delQ(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCTACCCCCCgcagcagcagcag	0.591			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								9	189	---	---	---	---					
BEND5	79656	broad.mit.edu	37	1	49201966	49201967	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr1:49201966_49201967insT	ENST00000371833.3	-	5	1138_1139	c.1052_1053insA	c.(1051-1053)aaafs	p.K351fs	AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_Intron|AGBL4_ENST00000371838.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	351	BEN.									large_intestine(5)|lung(2)|skin(1)	8						CTGCATCTTTCTTTTTTTTTGT	0.460													7	303	---	---	---	---					
COL3A1	1281	broad.mit.edu	37	2	189859015	189859016	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr2:189859015_189859016insC	ENST00000304636.3	+	18	1420_1421	c.1250_1251insC	c.(1249-1251)gccfs	p.A417fs	COL3A1_ENST00000317840.5_Frame_Shift_Ins_p.A417fs	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	417	Triple-helical region.		G -> R (in EDS4).		axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGTCCTCCAGGACCAGCCGGTG	0.500													13	221	---	---	---	---					
PTGER4	5734	broad.mit.edu	37	5	40681358	40681359	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr5:40681358_40681359insC	ENST00000302472.3	+	2	1287_1288	c.263_264insC	c.(262-264)gcafs	p.A88fs	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	88					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						TGGCCCGGGGGCCAGCCGCTGT	0.609											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	47	568	---	---	---	---					
ANK1	286	broad.mit.edu	37	8	41518989	41518990	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr8:41518989_41518990insT	ENST00000396942.1	-	42	5795_5796	c.5712_5713insA	c.(5710-5715)aaagtgfs	p.V1905fs	RP11-930P14.1_ENST00000585088.1_RNA|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000522231.1_Intron|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000457297.1_Intron|ANK1_ENST00000352337.4_Frame_Shift_Ins_p.V1858fs|ANK1_ENST00000314214.8_Frame_Shift_Ins_p.V155fs|ANK1_ENST00000347528.4_Intron|ANK1_ENST00000265709.8_Intron|ANK1_ENST00000289734.7_Frame_Shift_Ins_p.V1880fs|ANK1_ENST00000522543.1_Intron			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	0					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CGGGGTCACTGTTTCCCCCTTT	0.629													7	89	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651191	1651199	+	In_Frame_Del	DEL	GGCTGTGGA	GGCTGTGGA	-	rs71025763		TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr11:1651191_1651199delGGCTGTGGA	ENST00000399676.2	+	1	159_167	c.121_129delGGCTGTGGA	c.(121-129)del	p.GCG47del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	47						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ctgtggctccggctgtggaggctgtgggg	0.713													10	14	---	---	---	---					
B2M	567	broad.mit.edu	37	15	45003781	45003782	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr15:45003781_45003782delCT	ENST00000558401.1	+	1	107_108	c.37_38delCT	c.(37-39)cfs	p.L13fs	B2M_ENST00000544417.1_Frame_Shift_Del_p.L13fs|B2M_ENST00000559916.1_Frame_Shift_Del_p.L13fs	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	13					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	p.L15fs*41(4)|p.A11fs*42(1)|p.L13F(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GCTCGCGCTACTCTCTCTTTCT	0.614													31	26	---	---	---	---					
PLCG2	5336	broad.mit.edu	37	16	81944307	81944308	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr16:81944307_81944308insC	ENST00000359376.3	+	18	2130_2131	c.1916_1917insC	c.(1915-1917)accfs	p.T639fs		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	639					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CCCAACCCCAACCCCCACGAGT	0.653													7	152	---	---	---	---					
NOS2P1	645740	broad.mit.edu	37	17	25988693	25988702	+	RNA	DEL	CACAGGTGGC	CACAGGTGGC	-	rs3217511		TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr17:25988693_25988702delCACAGGTGGC	ENST00000583179.1	-	0	1982_1991																											GATGTAAAAGCACAGGTGGCCACAGGTTAC	0.500													4	2	---	---	---	---					
SF3A2	8175	broad.mit.edu	37	19	2248165	2248185	+	In_Frame_Del	DEL	CCAGCCCCCGGGGTTCACCCA	CCAGCCCCCGGGGTTCACCCA	-	rs144349304		TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr19:2248165_2248185delCCAGCCCCCGGGGTTCACCCA	ENST00000221494.4	+	9	1433_1453	c.1015_1035delCCAGCCCCCGGGGTTCACCCA	c.(1015-1035)del	p.PAPGVHP360del		NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	360	Pro-rich.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		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)		AGTCCACCCTCCAGCCCCCGGGGTTCACCCACCAGCCCCCG	0.742													3	6	---	---	---	---					
ZNF221	7638	broad.mit.edu	37	19	44470025	44470025	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr19:44470025delA	ENST00000251269.5	+	6	699	c.371delA	c.(370-372)cafs	p.Q124fs	ZNF221_ENST00000587682.1_Frame_Shift_Del_p.Q124fs|ZNF221_ENST00000592350.1_Frame_Shift_Del_p.Q124fs	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				TCCTGTCAGCAAATATGGGAA	0.443													47	112	---	---	---	---					
ZNF761	388561	broad.mit.edu	37	19	53946133	53946133	+	RNA	DEL	A	A	-	rs35108555		TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr19:53946133delA	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TCATGTTGTGAAAAAAAAAAT	0.348													8	3	---	---	---	---					
TMC4	147798	broad.mit.edu	37	19	54676754	54676755	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CR-5243-01A-01D-1512-08	TCGA-CR-5243-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	297e8b35-5b8b-4d5b-b812-86165f949a20	20992f4c-7762-48d2-8fb2-8f6eb1763134	g.chr19:54676754_54676755insC	ENST00000376591.4	-	1	189_190	c.58_59insG	c.(58-60)cccfs	p.P20fs	TMC4_ENST00000301187.4_Frame_Shift_Ins_p.P20fs	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	20						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTCCCGGGGGGCCAGCCACCCC	0.634													17	368	---	---	---	---