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
DMXL2	23312	broad.mit.edu	37	15	51855614	51855614	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr15:51855614C>T	uc010ufy.2	-	5	756	c.531G>A	c.(529-531)tgG>tgA	p.W177*	DMXL2_uc002abf.3_Nonsense_Mutation_p.W177*|DMXL2_uc010bfa.3_Nonsense_Mutation_p.W177*	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	177						cell junction|synaptic vesicle membrane	Rab GTPase binding	p.W177*(2)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CATCAGGAGACCATTCCATCA	0.308000													3	72					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8604860	8604860	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr19:8604860G>A	uc002mkg.3	-	15	1801	c.1663C>T	c.(1663-1665)Cgc>Tgc	p.R555C		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	555	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.R555C(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GTGCTGGGGCGCCCCTTCTTG	0.637000													20	46					0	0	1	0	0
NAA25	80018	broad.mit.edu	37	12	112516059	112516059	+	Silent	SNP	A	A	G			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr12:112516059A>G	uc001ttm.3	-	6	655	c.597T>C	c.(595-597)taT>taC	p.Y199Y	NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_Silent_p.Y171Y|NAA25_uc009zwa.2_Silent_p.Y199Y	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA.	199						cytoplasm	protein binding	p.Y199Y(2)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GGATCATATAATAAAGTTCAA	0.299000													7	163					0	0	1	0	0
MAS1L	116511	broad.mit.edu	37	6	29454710	29454710	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr6:29454710T>C	uc011dlq.2	-	0	970	c.970A>G	c.(970-972)Agg>Ggg	p.R324G		NM_052967	NP_443199	P35410	MAS1L_HUMAN	Homo sapiens MAS1 oncogene-like (MAS1L), mRNA.	324						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	p.R324G(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TCCTTCAGCCTTTTCTTTCTG	0.463000													5	220					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124358388	124358388	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr10:124358388G>A	uc001lgk.1	+	25	3161	c.3055G>A	c.(3055-3057)Gat>Aat	p.D1019N	DMBT1_uc001lgl.1_Missense_Mutation_p.D1009N|DMBT1_uc001lgm.1_Missense_Mutation_p.D520N|DMBT1_uc021qaf.1_Missense_Mutation_p.D1019N|DMBT1_uc021qag.1_Missense_Mutation_p.D1009N|DMBT1_uc021qah.1_Missense_Mutation_p.D520N|DMBT1_uc009xzz.1_Missense_Mutation_p.D1019N|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1019	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.D1019N(4)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CACCGTGTGCGATGACAGCTG	0.602000													219	349					0	0	1	0	0
NKAPL	222698	broad.mit.edu	37	6	28227527	28227527	+	Silent	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr6:28227527G>A	uc003nkt.3	+	0	430	c.378G>A	c.(376-378)gaG>gaA	p.E126E	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	126								p.E126E(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AGGAGAGAGAGAGGATTGGGG	0.542000													38	73					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123954657	123954657	+	Silent	SNP	C	C	T	rs138045107	byFrequency	TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr10:123954657C>T	uc001lfv.3	+	7	6297	c.5937C>T	c.(5935-5937)ccC>ccT	p.P1979P	TACC2_uc001lfw.3_Silent_p.P125P|TACC2_uc009xzx.3_Silent_p.P1934P|TACC2_uc010qtv.2_Silent_p.P1983P|TACC2_uc001lfx.3_5'UTR|TACC2_uc001lfy.3_5'UTR|TACC2_uc001lfz.3_Silent_p.P57P|TACC2_uc001lga.3_Silent_p.P57P|TACC2_uc009xzy.3_Silent_p.P57P|TACC2_uc010qtw.1_Silent_p.P74P	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1979	Pro-rich.					microtubule organizing center|nucleus	nuclear hormone receptor binding	p.P1979P(3)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCCCAGAACCCGAGGTCAGCA	0.622000													26	53					0	0	1	0	0
STS	412	broad.mit.edu	37	X	7223203	7223203	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chrX:7223203G>A	uc004cry.4	+	6	1320	c.1075G>A	c.(1075-1077)Gga>Aga	p.G359R		NM_000351	NP_000342	P08842	STS_HUMAN	Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA.	359					female pregnancy|steroid catabolic process	Golgi apparatus|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity	p.G359R(2)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	AATTCATGGCGGAAGTAATGG	0.458000									Ichthyosis				3	70					0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141955370	141955370	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr7:141955370G>A	uc003vxb.3	-	1	484	c.164C>T	c.(163-165)gCa>gTa	p.A55V	PRSS58_uc003vxc.4_Missense_Mutation_p.A55V	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	55	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.A55V(3)		kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						ATTGCAGTGTGCAGCTGTGAT	0.522000													33	78					0	0	1	0	0
SLC26A2	1836	broad.mit.edu	37	5	149360521	149360521	+	Silent	SNP	T	T	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr5:149360521T>A	uc003lrh.3	+	2	1633	c.1365T>A	c.(1363-1365)ctT>ctA	p.L455L		NM_000112	NP_000103	P50443	S26A2_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 2 (SLC26A2), mRNA.	455						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	p.L455L(2)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ATACTCAGCTTTCTGGTGTGG	0.418000													39	92					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371601	240371601	+	Silent	SNP	C	C	T			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:240371601C>T	uc010pye.2	+	5	3726	c.3501C>T	c.(3499-3501)ccC>ccT	p.P1167P	FMN2_uc010pyd.2_Silent_p.P1163P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1163	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.P1306P(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGGGCATACCCCCACCTCCCC	0.692000													2	1					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112486397	112486397	+	Missense_Mutation	SNP	G	G	A	rs138153075	byFrequency	TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr6:112486397G>A	uc003pvu.2	-	12	1942	c.1633C>T	c.(1633-1635)Cgt>Tgt	p.R545C	LAMA4_uc003pvv.2_Missense_Mutation_p.R538C|LAMA4_uc003pvt.2_Missense_Mutation_p.R538C	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	545	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	p.R538C(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AGAGTTAGACGAGGTGTTGTC	0.448000													35	83					0	0	1	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149212486	149212486	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr5:149212486A>T	uc003lrc.3	+	4	941	c.850A>T	c.(850-852)Atg>Ttg	p.M284L	PPARGC1B_uc003lrb.2_Missense_Mutation_p.M284L|PPARGC1B_uc003lrd.3_Missense_Mutation_p.M245L|PPARGC1B_uc021yfr.1_Missense_Mutation_p.M220L|PPARGC1B_uc003lre.1_Missense_Mutation_p.M263L|PPARGC1B_uc003lrf.3_Missense_Mutation_p.M263L	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	284					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity	p.M284L(3)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCAGGAAGACATGCAGGCGAT	0.672000													31	87					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48736776	48736776	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr15:48736776C>A	uc001zwx.2	-	48	6394	c.5999G>T	c.(5998-6000)tGc>tTc	p.C2000F	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2000	EGF-like 34; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.C2000F(2)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCCAGGTGGGCAAATGCATCT	0.433000													58	118					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158626393	158626393	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:158626393G>C	uc001fst.1	-	19	3058	c.2859C>G	c.(2857-2859)gaC>gaG	p.D953E		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	953					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.D953E(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTTCATACTGTCTCCAAATG	0.413000													71	181					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974537	49974537	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr11:49974537C>T	uc010rhz.2	+	0	595	c.563C>T	c.(562-564)aCt>aTt	p.T188I		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T188I(2)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CTTGCCTGCACTAATACCCAC	0.438000													73	202					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76868351	76868351	+	Silent	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr11:76868351G>A	uc001oyb.2	+	7	1034	c.762G>A	c.(760-762)gtG>gtA	p.V254V	MYO7A_uc010rsl.2_Silent_p.V254V|MYO7A_uc010rsm.1_Silent_p.V243V|MYO7A_uc001oyc.2_Silent_p.V254V	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	254	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.V254V(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACTACCACGTGTTCTACTGCA	0.582000													11	14					0	0	1	0	0
ST6GALNAC2	10610	broad.mit.edu	37	17	74562331	74562331	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr17:74562331G>A	uc002jsg.4	-	8	1235	c.980C>T	c.(979-981)aCa>aTa	p.T327I		NM_006456	NP_006447	Q9UJ37	SIA7B_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 (ST6GALNAC2), mRNA.	327					protein glycosylation	integral to Golgi membrane	sialyltransferase activity	p.T327I(2)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						GTAGTTGCTTGTGATGAATCC	0.448000													78	155					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27457443	27457443	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr2:27457443G>A	uc002rji.3	+	22	3838	c.3676G>A	c.(3676-3678)Gtt>Att	p.V1226I	CAD_uc010eyw.3_Missense_Mutation_p.V1163I	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	1226	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	p.V1226I(3)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CTTCCCCTTCGTTTCCAAGAC	0.552000													48	99					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177001717	177001717	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:177001717G>C	uc001glc.3	-	2	952	c.740C>G	c.(739-741)aCt>aGt	p.T247S	ASTN1_uc001glb.1_Missense_Mutation_p.T247S|ASTN1_uc001gld.1_Missense_Mutation_p.T247S|ASTN1_uc009wwx.1_Missense_Mutation_p.T247S|ASTN1_uc001gle.4_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	247					cell migration|neuron cell-cell adhesion	integral to membrane		p.T247S(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCGCAGATCAGTGATGTCATA	0.622000													18	106					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216371806	216371806	+	Missense_Mutation	SNP	G	G	A	rs79279902		TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:216371806G>A	uc001hku.1	-	17	4319	c.3932C>T	c.(3931-3933)tCg>tTg	p.S1311L	USH2A_uc001hkv.3_Missense_Mutation_p.S1311L	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1311	Fibronectin type-III 3.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.S1311L(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCATTGGCCGATTCTACAAA	0.413000										HNSCC(13;0.011)			53	121					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6172165	6172165	+	Silent	SNP	C	C	T			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr12:6172165C>T	uc001qnn.1	-	12	1738	c.1488G>A	c.(1486-1488)gaG>gaA	p.E496E	VWF_uc010set.1_Silent_p.E496E	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	496	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity	p.E496E(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCTGCAGGTCCTCCCCGTAGC	0.657000											OREG0021618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	21					0	0	1	0	0
WNT2	7472	broad.mit.edu	37	7	116937778	116937778	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr7:116937778G>C	uc003viz.3	-	3	1041	c.741C>G	c.(739-741)aaC>aaG	p.N247K	WNT2_uc003vja.3_Missense_Mutation_p.N151K	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	247					Wnt receptor signaling pathway, calcium modulating pathway|atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	p.N247K(2)		breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TGCCATCCTGGTTCATGACCA	0.498000													61	120					0	0	1	0	0
GZMA	3001	broad.mit.edu	37	5	54405924	54405924	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr5:54405924G>A	uc003jpm.3	+	4	740	c.703G>A	c.(703-705)Gga>Aga	p.G235R		NM_006144	NP_006135	P12544	GRAA_HUMAN	Homo sapiens granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) (GZMA), mRNA.	235	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity	p.G235R(2)|p.C234C(1)|p.G235A(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				AAATAAATGCGGAGACCCTCG	0.468000													35	106					0	0	1	0	0
LOC728989	728989	broad.mit.edu	37	1	146494538	146494538	+	Missense_Mutation	SNP	G	G	A	rs141949470	by1000genomes	TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:146494538G>A	uc001epd.2	-	3	535	c.461C>T	c.(460-462)gCg>gTg	p.A154V						Homo sapiens phosphodiesterase 4D interacting protein pseudogene (LOC728989), non-coding RNA.																		TGGCAGGGCCGCTCTCCAGAA	0.572000													5	38					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600584	29600584	+	Silent	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr13:29600584G>A	uc001usl.4	+	0	1837	c.1779G>A	c.(1777-1779)acG>acA	p.T593T		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	583						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.T593T(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGTTGAACACGTCCCCCAAAG	0.552000													22	68					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1988135	1988135	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr12:1988135G>A	uc021qsx.1	-	14	1862	c.1631C>T	c.(1630-1632)gCg>gTg	p.A544V	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.A432V	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	544	Cache.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.A544V(3)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTACCGGGGCGCCAGCTTCAT	0.622000													8	24					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531524	50531524	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr10:50531524C>A	uc021pqb.1	+	0	934	c.934C>A	c.(934-936)Cta>Ata	p.L312I	C10orf71_uc021pqa.1_Missense_Mutation_p.L311I|C10orf71_uc021pqc.1_Missense_Mutation_p.L312I	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	312								p.L312I(2)		endometrium(1)	1						CACGACCTTGCTAAGAGAACC	0.577000													3	65					0	0	1	0	0
USP22	23326	broad.mit.edu	37	17	20910262	20910262	+	Silent	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr17:20910262G>A	uc002gym.4	-	9	1473	c.1269C>T	c.(1267-1269)acC>acT	p.T423T	USP22_uc002gyn.4_Silent_p.T411T|USP22_uc002gyl.4_Silent_p.T318T	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN	Homo sapiens ubiquitin specific peptidase 22 (USP22), mRNA.	423					cell cycle|embryo development|histone H4 acetylation|histone deubiquitination|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.T645T(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						ACACATACGTGGTGATCTTCC	0.547000													4	25					0	0	1	0	0
UQCRC1	7384	broad.mit.edu	37	3	48638151	48638151	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr3:48638151C>T	uc003cub.1	-	8	1134	c.1089G>A	c.(1087-1089)atG>atA	p.M363I		NM_003365	NP_003356	P31930	QCR1_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase core protein I (UQCRC1), mRNA.	363					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding	p.M363I(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	CATCGATTTTCATTCGGTCAC	0.542000													14	92					0	0	1	0	0
PUM1	9698	broad.mit.edu	37	1	31406163	31406163	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:31406163delA	uc001bsi.1	-	21	3569	c.3456delT	c.(3454-3456)cgtfs	p.R1152fs	PUM1_uc001bsf.1_Frame_Shift_Del_p.R820fs|PUM1_uc001bsh.1_Frame_Shift_Del_p.R1154fs|PUM1_uc001bsj.1_Frame_Shift_Del_p.R1128fs|PUM1_uc010oga.1_Frame_Shift_Del_p.R1010fs|PUM1_uc001bsk.1_Frame_Shift_Del_p.R1190fs|PUM1_uc010ogb.1_Frame_Shift_Del_p.R1093fs	NM_014676	NP_055491	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.	1152	PUM-HD.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		AGGTGTACTTACGAAGAGTTG	0.532													68	165	---	---	---	---					
FLG2	388698	broad.mit.edu	37	1	152329411	152329415	+	Frame_Shift_Del	DEL	TTGCT	-	-			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:152329411_152329415delTTGCT	uc001ezw.4	-	2	920_924	c.847_851delAGCAA	c.(847-852)agcaatfs	p.S283fs	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	283	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCACTTGAATTGCTATAACCACAT	0.429													78	272	---	---	---	---					
CCDC144A	9720	broad.mit.edu	37	17	16612678	16612678	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr17:16612678delT	uc002gqk.1	+	4	1383	c.1307delT	c.(1306-1308)gttfs	p.V436fs	CCDC144A_uc002gql.1_Intron|CCDC144A_uc010cpj.1_5'Flank	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.	436																	CCAGAAGTGGTTATGGTTGAA	0.353													27	47	---	---	---	---					
