Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CFAP61_chr20_20047532_20365698	20294937	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02723.hp1 HG02809.hp2 others(3): Show HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG03098.hp1	a0002 a0010 a0002 a0010	a0002c0009 a0002c0022 a0010c0020 a0002c0009 a0002c0022 a0010c0020	a0002c0009t0001 a0002c0009t0002 a0002c0009t0003 others(2): Show a0002c0009t0001 a0002c0009t0002 a0002c0009t0003 a0002c0022t0002 a0010c0020t0002	a0002c0009t0001g0105 a0002c0009t0002g0104 a0002c0009t0002g0106 others(3): Show a0002c0009t0001g0105 a0002c0009t0002g0104 a0002c0009t0002g0106 a0002c0009t0003g0107 a0002c0022t0002g0049 a0010c0020t0002g0123	6	99	0.0606	-21	c.321 others(40): Show c.3217-3224_3217-3204delATAATAATAATAATAATAATA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	24/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357322	GGTGGTCA others(14): Show GGTGGTCATACTGTGAGGGGAA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02970.hp2 HG02145.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0022 a0002c0002t0001g0023	2	234	0.0085	-21	c.351 others(40): Show c.3514-2880_3514-2860delTACTGTGAGGGGAAGTGGTCA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357353	CTGAGGGG others(14): Show CTGAGGGGAGGTGGTCATAGTG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA19030.hp1 HG01109.hp1 NA19030.hp1	a0006 a0010 a0006 a0010	a0006c0011 a0010c0017 a0006c0011 a0010c0017	a0006c0011t0002 a0010c0017t0002 a0006c0011t0002 a0010c0017t0002	a0006c0011t0002g0117 a0010c0017t0002g0121 a0006c0011t0002g0117 a0010c0017t0002g0121	2	234	0.0085	-21	c.351 others(40): Show c.3514-2840_3514-2820delTAGTGTGAGGGGAGGTGGTCA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357789	CAGTGTGC others(14): Show CAGTGTGCGGGGAGGTGGTCAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02970.hp2 HG02145.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0022 a0002c0002t0001g0023	2	115	0.0174	-21	c.351 others(40): Show c.3514-2419_3514-2399delGTGTGCGGGGAGGTGGTCATA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP69_chr7_90240174_90316063	90264105	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG03453.hp2 HG02896.hp2 HG02897.hp2 HG03453.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0017 a0006c0008t0002g0242 a0006c0008t0002g0017 a0006c0008t0002g0242	3	220	0.0136	-21	c.357 others(38): Show c.357-1195_357-1175delTATATATATATATATATATAT	CFAP69	ENSG00000105792.19	transcript	ENST00000389297.8	protein_coding	4/22			chr7	TogoVar
CFAP73_chr12_113144724_113164276	113148794	AGGGTACT others(14): Show AGGGTACTTTTTATATTACTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	-21	c.-10 others(32): Show c.-1063_-1043delGGGTACTTTTTATATTACTCT	CFAP73	ENSG00000186710.12	transcript	ENST00000335621.11	protein_coding		929		chr12	TogoVar
CFAP91_chr3_119698022_119772102	119738332	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02559.hp2 NA19030.hp1 others(2): Show HG02055.hp1 HG02559.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0004 a0002c0004t0004 a0001c0001t0004 a0002c0004t0004	a0001c0001t0004g0014 a0001c0001t0004g0160 a0002c0004t0004g0028 a0001c0001t0004g0014 a0001c0001t0004g0160 a0002c0004t0004g0028	5	17	0.2941	-21	c.146 others(38): Show c.1461+864_1461+884delTTTTTTTTTTTTTTTTTTTTT	CFAP91	ENSG00000183833.16	transcript	ENST00000273390.9	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
CFAP95_chr9_69815817_69911227	69843542	CCTCCTCC others(14): Show CCTCCTCCTCCTCCTCCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 NA19083.hp2 HG00733.hp1 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0354 a0002c0003t0001g0245 a0001c0001t0001g0354 a0002c0003t0001g0245	2	372	0.0054	-21	c.153 others(36): Show c.153-972_153-952delCCTCCTCCTCCTCCTTCTTCT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69843545	CCTCCTCC others(14): Show CCTCCTCCTCCTCCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02056.hp2 HG02486.hp2 others(2): Show HG01261.hp1 HG02056.hp2 HG02486.hp2 NA18969.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0164 a0001c0001t0001g0189 a0001c0001t0001g0216 others(2): Show a0001c0001t0001g0164 a0001c0001t0001g0189 a0001c0001t0001g0216 a0001c0002t0001g0247 a0001c0002t0001g0254	5	371	0.0135	-21	c.153 others(36): Show c.153-969_153-949delCCTCCTCCTCCTTCTTCTTCT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69843548	CCTCCTCC others(14): Show CCTCCTCCTCCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0257 a0001c0002t0001g0257	1	365	0.0027	-21	c.153 others(36): Show c.153-966_153-946delCCTCCTCCTTCTTCTTCTTCT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69843554	CCTCCTTC others(14): Show CCTCCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	320	0.0031	-21	c.153 others(36): Show c.153-960_153-940delCCTTCTTCTTCTTCTTCTTCT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFDP1_chr16_75288710_75438503	75393737	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG01109.hp2 others(34): Show HG00280.hp1 HG00423.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01884.hp2 HG02055.hp2 HG02083.hp1 HG02109.hp1 HG02451.hp1 HG02572.hp1 HG02602.hp1 HG02647.hp2 HG02683.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03710.hp1 HG03831.hp2 HG04115.hp2 HG04204.hp2 NA18522.hp1 NA18943.hp1 NA18956.hp2 NA18981.hp2 NA18998.hp1 NA19058.hp2 NA19062.hp1 NA19090.hp2 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0002g0147 others(34): Show a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0002g0147 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0004g0148	37	41	0.9024	-21	c.650 others(38): Show c.650+1332_650+1352delTTTTTTTTTTTTTTTTTTTTT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFD_chr19_854664_868641	867607	GGCAGAGA others(14): Show GGCAGAGACACAGAAACAGCAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01192.hp1 HG00735.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0035 a0001c0001t0001g0014 a0001c0001t0001g0035	2	286	0.0070	-21	c.43 others(32): Show c.4370_*4390delGCAGAGACACAGAAACAGCAT	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3967		chr19	TogoVar
CFLAR_chr2_201111164_201181687	201114026	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0058 a0001c0002t0058	a0001c0002t0058g0090 a0001c0002t0058g0090	1	221	0.0045	-21	c.-25 others(32): Show c.-2592_-2572delTATATATATATATATATATAT	CFLAR	ENSG00000003402.21	transcript	ENST00000309955.8	protein_coding		2137		chr2	TogoVar
CFLAR_chr2_201111164_201181687	201165241	CTTATTAT others(14): Show CTTATTATTATTATTATTATTA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0110	a0001c0001t0110g0111 a0001c0001t0110g0111	1	20	0.0500	-21	c.12 others(32): Show c.1295_*1315delATTATTATTATTATTATTATT	CFLAR	ENSG00000003402.21	transcript	ENST00000309955.8	protein_coding	10/10	1295	INFO_REALIGN_3_PRIME	chr2	TogoVar
CGB2_chr19_49026890_49038238	49027087	AATTAGCT others(14): Show AATTAGCTGGGTATGGTGGTGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	374	0.0027	-21	c.-50 others(32): Show c.-5008_-4988delATTAGCTGGGTATGGTGGTGC	CGB2	ENSG00000104818.15	transcript	ENST00000359342.7	protein_coding		4802		chr19	TogoVar
CGB7_chr19_49049274_49062749	49062310	AAACCTCA others(14): Show AAACCTCATCTCTACCAAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	420	0.0024	-21	c.-62 others(32): Show c.-6218_-6198delATTTTTGGTAGAGATGAGGTT	CGB7	ENSG00000196337.14	transcript	ENST00000684222.1	protein_coding		4562		chr19	TogoVar
CGNL1_chr15_57371505_57555717	57405822	CTTTCTTT others(14): Show CTTTCTTTTTCTTTCTTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01496.hp1 HG01496.hp2 others(19): Show HG00423.hp2 HG01496.hp1 HG01496.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02293.hp2 HG02717.hp2 HG02965.hp2 HG02976.hp1 HG03139.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03579.hp1 HG03927.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0009	a0001c0001 a0001c0039 a0002c0002 others(2): Show a0001c0001 a0001c0039 a0002c0002 a0006c0007 a0009c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0039t0010 a0002c0002t0003 a0002c0002t0007 a0002c0002t0008 a0002c0002t0012 a0002c0002t0013 a0006c0007t0005 a0009c0037t0006	a0001c0001t0001g0185 a0001c0001t0002g0217 a0001c0001t0002g0225 others(19): Show a0001c0001t0001g0185 a0001c0001t0002g0217 a0001c0001t0002g0225 a0001c0001t0002g0234 a0001c0001t0004g0028 a0001c0001t0004g0146 a0001c0039t0010g0046 a0002c0002t0003g0031 a0002c0002t0003g0183 a0002c0002t0003g0193 a0002c0002t0003g0194 a0002c0002t0003g0224 a0002c0002t0003g0241 a0002c0002t0007g0055 a0002c0002t0007g0058 a0002c0002t0007g0099 a0002c0002t0008g0023 a0002c0002t0008g0030 a0002c0002t0012g0263 a0002c0002t0013g0268 a0006c0007t0005g0056 a0009c0037t0006g0026	22	263	0.0837	-21	c.-16 others(40): Show c.-16+29263_-16+29283delTTCTTTCTTTTCTTTTTCTTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57554364	CACCCTGT others(14): Show CACCCTGTACATTCTCACCCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	292	0.0034	-21	c.68 others(32): Show c.6875_*6895delACCCTGTACATTCTCACCCTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding		3648		chr15	TogoVar
CHAT_chr10_49609037_49672942	49647738	GCTTTCCT others(14): Show GCTTTCCTTCCTTCCTTCCTTC	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0301 a0001c0005t0005g0301	1	416	0.0024	-21	c.128 others(38): Show c.1282-765_1282-745delTCCTTCCTTCCTTCCTTCCTT	CHAT	ENSG00000070748.19	transcript	ENST00000337653.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
CHCHD6_chr3_126699240_126965420	126857943	CATGTGCC others(14): Show CATGTGCCCCCAGGTTCACCAG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02602.hp1 HG03654.hp2 HG00735.hp2 HG02602.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0136 a0001c0001t0001g0165 a0001c0001t0001g0166	3	214	0.0140	-21	c.495 others(38): Show c.495+5236_495+5256delTGTGCCCCCAGGTTCACCAGA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126862353	TATCACCA others(14): Show TATCACCACCTCCTCCACCACC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02615.hp2 HG02965.hp1 others(1): Show HG02280.hp2 HG02615.hp2 HG02965.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0112 a0001c0001t0001g0113 others(1): Show a0001c0001t0001g0088 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114	4	201	0.0199	-21	c.495 others(38): Show c.495+9639_495+9659delACCACCATCACCACCTCCTCC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126862429	TCCTCCTC others(14): Show TCCTCCTCCTCCACCATCACCA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01255.hp1 HG02004.hp1 others(22): Show HG00408.hp2 HG01255.hp1 HG02004.hp1 HG02080.hp1 HG02132.hp1 HG02135.hp1 HG02257.hp1 HG02683.hp1 HG02809.hp1 HG03704.hp1 NA18943.hp1 NA18945.hp1 NA18954.hp1 NA18960.hp2 NA18962.hp2 NA18971.hp1 NA18983.hp2 NA18995.hp2 NA19000.hp2 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19068.hp2 NA19070.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0141 a0001c0001t0001g0161 a0002c0002t0001g0002 others(22): Show a0001c0001t0001g0141 a0001c0001t0001g0161 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0074 a0002c0002t0002g0094	25	211	0.1185	-21	c.495 others(38): Show c.495+9731_495+9751delCACCATCACCACCTCCTCCTC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126863443	TCCTCCTC others(14): Show TCCTCCTCCCCCACTGTCACCA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	214	0.0047	-21	c.495 others(40): Show c.495+10722_495+10742delCCCACTGTCACCACCTCCTCC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126863807	TCATCACC others(14): Show TCATCACCACCTCCTCCTCTAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02132.hp1 NA18954.hp1 others(2): Show HG00408.hp2 HG02132.hp1 NA18954.hp1 NA18962.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 others(2): Show a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0025 a0002c0002t0001g0026	5	214	0.0234	-21	c.495 others(40): Show c.495+11096_495+11116delTACCATCACCACCTCCTCCTC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCT1_chr17_60417489_60436426	60419817	AATTATTA others(14): Show AATTATTATTATTATTATTATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0047 a0001c0004t0001g0047	1	64	0.0156	-21	c.-27 others(32): Show c.-2775_-2755delATTATTATTATTATTATTATT	CHCT1	ENSG00000141371.13	transcript	ENST00000269127.5	protein_coding		2671		chr17	TogoVar
CHD4_chr12_6565082_6612379	6607667	CCCCAACA others(14): Show CCCCAACACACACACACACACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0069 a0001c0004t0002g0069	1	330	0.0030	-21	c.-46 others(30): Show c.-467_-447delTGTGTGTGTGTGTGTGTTGGG	CHD4	ENSG00000111642.16	transcript	ENST00000544040.7	protein_coding		289		chr12	TogoVar
CHD4_chr12_6565082_6612379	6607669	CCAACACA others(14): Show CCAACACACACACACACACACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01257.hp2 HG01258.hp1 others(20): Show HG00673.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01496.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01993.hp1 HG02027.hp1 HG02615.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp2 NA18940.hp1 NA18954.hp1 NA18971.hp2 NA19000.hp2 NA19012.hp1 NA19054.hp1 NA19077.hp2 NA19081.hp2 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0017 a0001c0002 a0001c0003 a0001c0017	a0001c0002t0001 a0001c0002t0004 a0001c0003t0003 others(1): Show a0001c0002t0001 a0001c0002t0004 a0001c0003t0003 a0001c0017t0003	a0001c0002t0001g0034 a0001c0002t0004g0051 a0001c0003t0003g0002 others(12): Show a0001c0002t0001g0034 a0001c0002t0004g0051 a0001c0003t0003g0002 a0001c0003t0003g0005 a0001c0003t0003g0020 a0001c0003t0003g0094 a0001c0003t0003g0105 a0001c0003t0003g0112 a0001c0003t0003g0116 a0001c0003t0003g0119 a0001c0003t0003g0120 a0001c0003t0003g0122 a0001c0003t0003g0123 a0001c0003t0003g0284 a0001c0017t0003g0296	23	287	0.0801	-21	c.-46 others(30): Show c.-469_-449delTGTGTGTGTGTGTGTGTGTTG	CHD4	ENSG00000111642.16	transcript	ENST00000544040.7	protein_coding		291		chr12	TogoVar
CHD5_chr1_6096787_6185321	6161132	GAGAAGGA others(14): Show GAGAAGGAAAGGAAAGGGTGGC	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0033 a0001c0031t0033	a0001c0031t0033g0005 a0001c0031t0033g0005	1	318	0.0031	-21	c.208 others(38): Show c.208-1638_208-1618delGCCACCCTTTCCTTTCCTTCT	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	2/41			chr1	TogoVar
CHDH_chr3_53807335_53851419	53821293	TCCTGTGG others(14): Show TCCTGTGGATGGAAGGACGAGG	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02132.hp1 HG02145.hp1 others(1): Show HG02027.hp2 HG02132.hp1 HG02145.hp1 HG02615.hp2	a0002 a0002	a0002c0011 a0002c0012 a0002c0011 a0002c0012	a0002c0011t0039 a0002c0012t0101 a0002c0012t0102 a0002c0011t0039 a0002c0012t0101 a0002c0012t0102	a0002c0011t0039g0232 a0002c0011t0039g0233 a0002c0012t0101g0244 others(1): Show a0002c0011t0039g0232 a0002c0011t0039g0233 a0002c0012t0101g0244 a0002c0012t0102g0245	4	390	0.0103	-21	c.985 others(36): Show c.985+333_985+353delCCTCGTCCTTCCATCCACAGG	CHDH	ENSG00000016391.11	transcript	ENST00000315251.11	protein_coding	5/8			chr3	TogoVar
CHEK2_chr22_28682743_28746820	28706505	GTGATCAT others(14): Show GTGATCATGGCTCACTGCAGTC	G G	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	382	0.0026	-21	c.847 others(38): Show c.847-2960_847-2940delGACTGCAGTGAGCCATGATCA	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	7/14			chr22	TogoVar
CHGB_chr20_5906510_5930353	5926069	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG04184.hp2 NA18957.hp1 HG02258.hp2 HG04184.hp2 NA18957.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0003 a0006c0006 a0001c0001 a0003c0003 a0006c0006	a0001c0001t0001 a0003c0003t0002 a0006c0006t0002 a0001c0001t0001 a0003c0003t0002 a0006c0006t0002	a0001c0001t0001g0001 a0003c0003t0002g0084 a0006c0006t0002g0013 a0001c0001t0001g0001 a0003c0003t0002g0084 a0006c0006t0002g0013	3	311	0.0096	-21	c.10 others(32): Show c.1021_*1041delTATATATATATATATATATAT	CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding		717		chr20	TogoVar
CHID1_chr11_862859_915810	872059	GGAGGCTG others(14): Show GGAGGCTGCTCTGCAGACATCA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0303 a0002c0002t0001g0303	1	384	0.0026	-21	c.960 others(38): Show c.960-1581_960-1561delTGATGTCTGCAGAGCAGCCTC	CHID1	ENSG00000177830.18	transcript	ENST00000323578.13	protein_coding	10/12			chr11	TogoVar
CHM_chrX_85856180_86052558	86026102	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03453.hp2 NA18967.hp1 others(1): Show HG02970.hp1 HG03453.hp2 NA18967.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0014 a0001c0002t0002	a0001c0001t0001g0137 a0001c0001t0005g0206 a0001c0001t0014g0207 others(1): Show a0001c0001t0001g0137 a0001c0001t0005g0206 a0001c0001t0014g0207 a0001c0002t0002g0065	4	17	0.2353	-21	c.116 others(38): Show c.116+1368_116+1388delAAAAAAAAAAAAAAAAAAAAA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	2/14			chrX	TogoVar
CHN1_chr2_174793809_175010381	174955198	ATAATTGA others(14): Show ATAATTGATATATATATATATC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp2 HG02723.hp2 others(4): Show HG02451.hp2 HG02572.hp2 HG02723.hp2 HG02896.hp1 HG03195.hp2 HG03471.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 others(4): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0172	7	274	0.0255	-21	c.20- others(36): Show c.20-3017_20-2997delGATATATATATATATCAATTA	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	1/12			chr2	TogoVar
CHN2_chr7_29189775_29519328	29482797	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01517.hp2 HG01943.hp1 others(26): Show HG00639.hp2 HG01517.hp2 HG01943.hp1 HG01978.hp2 HG02040.hp1 HG02071.hp1 HG02080.hp1 HG02145.hp2 HG02258.hp2 HG02451.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp2 HG03017.hp2 HG03139.hp2 HG03195.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG04184.hp2 NA18957.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA19005.hp2 NA19063.hp2 NA19079.hp1 NA19082.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(12): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0024 a0001c0001t0028 a0001c0002t0001 a0001c0002t0002 a0001c0002t0025 a0001c0005t0005 a0001c0008t0011	a0001c0001t0001g0172 a0001c0001t0005g0030 a0001c0001t0005g0098 others(26): Show a0001c0001t0001g0172 a0001c0001t0005g0030 a0001c0001t0005g0098 a0001c0001t0005g0133 a0001c0001t0005g0160 a0001c0001t0005g0192 a0001c0001t0005g0207 a0001c0001t0006g0198 a0001c0001t0008g0063 a0001c0001t0009g0026 a0001c0001t0009g0190 a0001c0001t0010g0089 a0001c0001t0011g0127 a0001c0001t0011g0173 a0001c0001t0015g0157 a0001c0001t0024g0079 a0001c0001t0028g0057 a0001c0002t0001g0084 a0001c0002t0002g0082 a0001c0002t0002g0085 a0001c0002t0002g0103 a0001c0002t0002g0131 a0001c0002t0002g0164 a0001c0002t0002g0191 a0001c0002t0002g0202 a0001c0002t0002g0229 a0001c0002t0025g0016 a0001c0005t0005g0120 a0001c0008t0011g0220	29	35	0.8286	-21	c.654 others(38): Show c.654+2463_654+2483delTTTTTTTTTTTTTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHP2_chr16_23750026_23763935	23750917	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	390	0.0026	-21	c.-41 others(32): Show c.-4132_-4112delTTTCTTTCTTTCTTTCTTTCT	CHP2	ENSG00000166869.3	transcript	ENST00000300113.3	protein_coding		4108		chr16	TogoVar
CHPF2_chr7_151227483_151243822	151242043	AGGGTGGT others(14): Show AGGGTGGTCCCTGACCCAAATC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	380	0.0026	-21	c.33 others(32): Show c.3363_*3383delGGGTGGTCCCTGACCCAAATC	CHPF2	ENSG00000033100.17	transcript	ENST00000035307.7	protein_coding		3222		chr7	TogoVar
CHRFAM7A_chr15_30355566_30398540	30365801	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01515.hp1 HG00140.hp1 HG01515.hp1	a0003 a0003	a0003c0003 a0003c0019 a0003c0003 a0003c0019	a0003c0003t0002 a0003c0019t0002 a0003c0003t0002 a0003c0019t0002	a0003c0003t0002g0015 a0003c0019t0002g0012 a0003c0003t0002g0015 a0003c0019t0002g0012	2	4	0.5000	-21	c.720 others(38): Show c.720+1596_720+1616delAAAAAAAAAAAAAAAAAAAAA	CHRFAM7A	ENSG00000166664.15	transcript	ENST00000299847.7	protein_coding	9/9			chr15	TogoVar
CHRM2_chr7_136863652_137025213	136938915	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02896.hp1 HG01884.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0053 a0001c0001t0015 a0001c0001t0053	a0001c0001t0015g0263 a0001c0001t0053g0264 a0001c0001t0015g0263 a0001c0001t0053g0264	2	17	0.1176	-21	c.-12 others(42): Show c.-124-53244_-124-53224delAAAAAAAAAAAAAAAAAAAAA	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRNA3_chr15_78590309_78625996	78615439	ATGGCTGA others(14): Show ATGGCTGAGACCACCCCAGACC	A A	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0089 a0002c0002t0002g0089	1	408	0.0025	-21	c.377 others(38): Show c.377+1564_377+1584delGGTCTGGGGTGGTCTCAGCCA	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	4/5			chr15	TogoVar
CHST12_chr7_2398611_2453484	2434579	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0195 a0002c0002t0195	a0002c0002t0195g0282 a0002c0002t0195g0282	1	15	0.0667	-21	c.71 others(30): Show c.712_*732delAAAAAAAAAAAAAAAAAAAAA	CHST12	ENSG00000136213.10	transcript	ENST00000618655.2	protein_coding	2/2	712	INFO_REALIGN_3_PRIME	chr7	TogoVar
CHST6_chr16_75467052_75500441	75491173	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG01978.hp1 others(5): Show HG00140.hp1 HG00280.hp2 HG01978.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02523.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0094	a0001c0001t0001g0007 a0001c0001t0001g0048 a0001c0001t0003g0192 others(4): Show a0001c0001t0001g0007 a0001c0001t0001g0048 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0005g0046 a0001c0001t0006g0047 a0001c0001t0094g0051	8	370	0.0216	-21	c.-92 others(38): Show c.-92+3746_-92+3766delATATTTTTTTTTTTTTTTTTT	CHST6	ENSG00000183196.10	transcript	ENST00000332272.9	protein_coding	1/2			chr16	TogoVar
CHST6_chr16_75467052_75500441	75491175	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	370	0.0027	-21	c.-92 others(38): Show c.-92+3744_-92+3764delATATATTTTTTTTTTTTTTTT	CHST6	ENSG00000183196.10	transcript	ENST00000332272.9	protein_coding	1/2			chr16	TogoVar
CHST8_chr19_33616953_33778506	33618400	TTCTTCTT others(14): Show TTCTTCTTCTTCTTCTTCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02922.hp1 HG02451.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0037 a0001c0001t0001g0040	2	242	0.0083	-21	c.-40 others(32): Show c.-4059_-4039delTCTTCTTCTTCTTCTTCTTCC	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding		3552		chr19	TogoVar
CHST8_chr19_33616953_33778506	33618403	TTCTTCTT others(14): Show TTCTTCTTCTTCTTCTTCCTCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG02647.hp1 HG00597.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0145 a0001c0001t0002g0050 a0001c0001t0001g0145 a0001c0001t0002g0050	2	252	0.0079	-21	c.-40 others(32): Show c.-4056_-4036delTCTTCTTCTTCTTCTTCCTCG	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding		3549		chr19	TogoVar
CHST8_chr19_33616953_33778506	33618424	GTCTTCTT others(14): Show GTCTTCTTCTTCTTCTTCTTCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	116	0.0086	-21	c.-40 others(32): Show c.-4035_-4015delTCTTCTTCTTCTTCTTCTTCT	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding		3528		chr19	TogoVar
CHST9_chr18_26901481_27190308	27053259	AAGGAGAA others(14): Show AAGGAGAAGGAGAAGGAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03710.hp2 HG03225.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0085 a0001c0001t0003 a0001c0005t0085	a0001c0001t0003g0174 a0001c0005t0085g0017 a0001c0001t0003g0174 a0001c0005t0085g0017	2	229	0.0087	-21	c.122 others(38): Show c.122-4777_122-4757delCCTTCTCCTTCTCCTTCTCCT	CHST9	ENSG00000154080.14	transcript	ENST00000618847.5	protein_coding	2/5			chr18	TogoVar
CHSY3_chr5_129899465_130191634	130020447	ATATATAT others(14): Show ATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	239	0.0042	-21	c.108 others(44): Show c.1086+112089_1086+112109delATATATATATATATTTTTTTT	CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CIB4_chr2_26576205_26646366	26589039	TTCTTCTT others(14): Show TTCTTCTTCTTCTTCTTCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01243.hp1 HG02155.hp1 others(2): Show HG01169.hp2 HG01243.hp1 HG02155.hp1 HG03239.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0002c0002t0004 a0001c0001t0002 a0002c0002t0002 a0002c0002t0004	a0001c0001t0002g0229 a0002c0002t0002g0273 a0002c0002t0002g0281 others(2): Show a0001c0001t0002g0229 a0002c0002t0002g0273 a0002c0002t0002g0281 a0002c0002t0002g0298 a0002c0002t0004g0277	5	340	0.0147	-21	c.329 others(38): Show c.329-5162_329-5142delGGAAGAAGAAGAAGAAGAAGA	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	4/6			chr2	TogoVar

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