Joint Open Genome and Omics Platform (JoGo)

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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
MCUB_chr4_109555246_109693719	109619030	GCCTACCT others(13): Show GCCTACCTACCTACCTACCTA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0018 a0001c0001t0004g0018	1	336	0.0030	-20	c.100 others(39): Show c.100-39952_100-39933delCCTACCTACCTACCTACCTA	MCUB	ENSG00000005059.16	transcript	ENST00000394650.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
MCU_chr10_72687143_72892694	72804017	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	210	0.0048	-20	c.151 others(39): Show c.151-30304_151-30285delTATATATATATATATATATA	MCU	ENSG00000156026.15	transcript	ENST00000373053.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
MDFIC2_chr3_70189479_70317638	70245671	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG04115.hp1 HG03831.hp2 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0022 a0002c0002t0004g0295 a0002c0002t0004g0022 a0002c0002t0004g0295	2	370	0.0054	-20	c.89- others(37): Show c.89-38901_89-38882delTATATATATATATATATATA	MDFIC2	ENSG00000242120.4	transcript	ENST00000567252.2	protein_coding	2/3			chr3	TogoVar
MDGA1_chr6_37625679_37702883	37626617	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG02257.hp2 HG02486.hp1 others(1): Show HG01361.hp1 HG02257.hp2 HG02486.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0010 a0001c0001t0089 a0001c0006t0037 a0001c0001t0010 a0001c0001t0089 a0001c0006t0037	a0001c0001t0010g0386 a0001c0001t0010g0387 a0001c0001t0089g0216 others(1): Show a0001c0001t0010g0386 a0001c0001t0010g0387 a0001c0001t0089g0216 a0001c0006t0037g0067	4	402	0.0100	-20	c.10 others(33): Show c.10731_*10750delAAAAAAAAAAAAAAAAAAAA	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		4061		chr6	TogoVar
MDGA1_chr6_37625679_37702883	37644107	ACCCCACG others(13): Show ACCCCACGCATCCTGCCTCAC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03130.hp2 HG02055.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0082 a0001c0005t0048 a0001c0003t0082 a0001c0005t0048	a0001c0003t0082g0306 a0001c0005t0048g0020 a0001c0003t0082g0306 a0001c0005t0048g0020	2	402	0.0050	-20	c.240 others(37): Show c.2402-184_2402-165delGTGAGGCAGGATGCGTGGGG	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding	13/16			chr6	TogoVar
MDGA1_chr6_37625679_37702883	37664842	GACACACA others(13): Show GACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0126 a0001c0003t0002g0126	1	402	0.0025	-20	c.68- others(33): Show c.68-756_68-737delGTGTGTGTGTGTGTGTGTGT	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding	1/16			chr6	TogoVar
MDGA1_chr6_37625679_37702883	37698160	CTTTCTCT others(13): Show CTTTCTCTTTCTCTTTCTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00408.hp2 others(41): Show HG00140.hp1 HG00408.hp1 HG00408.hp2 HG01109.hp2 HG01255.hp2 HG01258.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01928.hp2 HG01934.hp1 HG01978.hp1 HG02080.hp2 HG02129.hp2 HG02148.hp2 HG02165.hp2 HG02300.hp1 HG02630.hp1 HG02647.hp2 HG02735.hp1 HG03017.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03834.hp1 HG04204.hp1 NA18942.hp1 NA18945.hp1 NA18956.hp1 NA18962.hp1 NA18966.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA19007.hp1 NA19009.hp2 NA19054.hp2 NA19068.hp2 NA19080.hp2 NA19083.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(5): Show a0001c0001 a0001c0002 a0001c0007 a0001c0012 a0001c0013 a0001c0018 a0001c0028 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0051 a0001c0001t0091 a0001c0001t0105 a0001c0001t0106 a0001c0002t0003 a0001c0002t0029 a0001c0007t0004 a0001c0007t0011 a0001c0012t0002 a0001c0013t0007 a0001c0018t0003 a0001c0028t0117 a0002c0004t0002 a0002c0004t0003 a0002c0004t0005 a0002c0004t0098 a0002c0004t0107	a0001c0001t0001g0259 a0001c0001t0001g0270 a0001c0001t0001g0276 others(40): Show a0001c0001t0001g0259 a0001c0001t0001g0270 a0001c0001t0001g0276 a0001c0001t0001g0282 a0001c0001t0001g0289 a0001c0001t0001g0299 a0001c0001t0001g0327 a0001c0001t0001g0345 a0001c0001t0001g0350 a0001c0001t0002g0008 a0001c0001t0002g0260 a0001c0001t0002g0275 a0001c0001t0002g0278 a0001c0001t0002g0357 a0001c0001t0002g0359 a0001c0001t0003g0236 a0001c0001t0003g0274 a0001c0001t0004g0258 a0001c0001t0004g0300 a0001c0001t0005g0351 a0001c0001t0005g0352 a0001c0001t0005g0353 a0001c0001t0005g0354 a0001c0001t0051g0031 a0001c0001t0091g0355 a0001c0001t0105g0361 a0001c0001t0106g0254 a0001c0002t0003g0348 a0001c0002t0003g0362 a0001c0002t0029g0370 a0001c0007t0004g0347 a0001c0007t0011g0068 a0001c0012t0002g0324 a0001c0013t0007g0012 a0001c0018t0003g0346 a0001c0028t0117g0375 a0002c0004t0002g0326 a0002c0004t0002g0342 a0002c0004t0002g0358 a0002c0004t0003g0363 a0002c0004t0005g0349 a0002c0004t0098g0340 a0002c0004t0107g0360	44	402	0.1095	-20	c.-13 others(31): Show c.-1369_-1350delAAGAGAAAGAGAAAGAGAAA	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		278		chr6	TogoVar
MDGA1_chr6_37625679_37702883	37698235	TCTCTCTC others(13): Show TCTCTCTCTCCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0040 a0001c0003t0040	a0001c0003t0040g0173 a0001c0003t0040g0173	1	402	0.0025	-20	c.-14 others(31): Show c.-1444_-1425delGAGAGAGAGAGGAGAGAGAG	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		353		chr6	TogoVar
MDGA2_chr14_46835092_47680605	46929593	GTGTGTGT others(13): Show GTGTGTGTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01978.hp2 HG01891.hp1 HG01978.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0005 a0001c0001t0006 a0002c0002t0005	a0001c0001t0006g0041 a0002c0002t0005g0073 a0001c0001t0006g0041 a0002c0002t0005g0073	2	120	0.0167	-20	c.209 others(39): Show c.2090-9453_2090-9434delTATATATATATACACACACA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	9/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	46959251	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0025 a0002c0002t0019g0025	1	120	0.0083	-20	c.182 others(39): Show c.1820-1628_1820-1609delCACACACACACACACACACA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	8/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	46969930	TTCCATAT others(13): Show TTCCATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01884.hp2 others(4): Show HG01069.hp1 HG01071.hp2 HG01884.hp2 HG01978.hp2 HG02717.hp2 HG02818.hp2 HG03516.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 others(3): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0002c0002t0009 a0002c0002t0011 a0004c0004t0004	a0001c0001t0004g0015 a0001c0001t0006g0041 a0001c0001t0014g0095 others(4): Show a0001c0001t0004g0015 a0001c0001t0006g0041 a0001c0001t0014g0095 a0001c0001t0014g0096 a0002c0002t0009g0104 a0002c0002t0011g0020 a0004c0004t0004g0003	7	120	0.0583	-20	c.182 others(41): Show c.1820-12307_1820-12288delTATATATATATATATATGGA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	8/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47053601	GTATATAT others(13): Show GTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0015	1	120	0.0083	-20	c.152 others(39): Show c.1525+7628_1525+7647delTATATATATATATATATATA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	7/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47053636	TATATATA others(13): Show TATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02922.hp2 HG02615.hp1 HG02922.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0012 a0002c0002t0019 a0001c0001t0012 a0002c0002t0019	a0001c0001t0012g0017 a0002c0002t0019g0025 a0001c0001t0012g0017 a0002c0002t0019g0025	2	120	0.0167	-20	c.152 others(39): Show c.1525+7593_1525+7612delGTATATATATATATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	7/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47053638	TATATATA others(13): Show TATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0011 a0001c0001t0017g0011	1	120	0.0083	-20	c.152 others(39): Show c.1525+7591_1525+7610delGTGTATATATATATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	7/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47057616	TCCCTCCT others(13): Show TCCCTCCTCTCCCCTCCCCTC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG00741.hp2 others(30): Show HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01169.hp1 HG01192.hp1 HG01496.hp1 HG01891.hp2 HG01981.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp2 HG02572.hp1 HG02572.hp2 HG02698.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp2 HG03017.hp1 HG03195.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG04199.hp2 NA18522.hp1 NA18993.hp1 NA18994.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0028 a0001c0001t0029 a0002c0002t0001 a0002c0002t0005 a0004c0004t0024	a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0067 others(30): Show a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0085 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0002g0051 a0001c0001t0002g0056 a0001c0001t0002g0075 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0110 a0001c0001t0003g0058 a0001c0001t0003g0092 a0001c0001t0006g0098 a0001c0001t0006g0099 a0001c0001t0008g0010 a0001c0001t0008g0018 a0001c0001t0010g0027 a0001c0001t0010g0028 a0001c0001t0013g0116 a0001c0001t0014g0095 a0001c0001t0014g0096 a0001c0001t0015g0115 a0001c0001t0018g0022 a0001c0001t0028g0102 a0001c0001t0029g0120 a0002c0002t0001g0081 a0002c0002t0005g0107 a0004c0004t0024g0032	33	120	0.2750	-20	c.152 others(39): Show c.1525+3613_1525+3632delGAGGGGAGGGGAGAGGAGGG	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	7/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47057624	CTCCCCTC others(13): Show CTCCCCTCCCCTCCCCTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00741.hp1 others(75): Show HG00323.hp1 HG00323.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02055.hp1 HG02055.hp2 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18966.hp1 NA18966.hp2 NA18993.hp2 NA18994.hp1 NA19043.hp1 NA19043.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0005 a0001c0008 others(7): Show a0001c0001 a0001c0005 a0001c0008 a0002c0002 a0002c0006 a0002c0010 a0003c0003 a0004c0004 a0005c0009 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0005t0001 a0001c0005t0007 a0001c0008t0005 a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0009 a0002c0002t0011 a0002c0002t0013 a0002c0002t0019 a0002c0006t0003 a0002c0010t0005 a0003c0003t0002 a0003c0003t0003 a0004c0004t0001 a0004c0004t0004 a0005c0009t0004 a0006c0007t0004	a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0044 others(75): Show a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0088 a0001c0001t0002g0106 a0001c0001t0003g0038 a0001c0001t0003g0049 a0001c0001t0003g0057 a0001c0001t0003g0070 a0001c0001t0003g0076 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0118 a0001c0001t0004g0001 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0006g0041 a0001c0001t0006g0048 a0001c0001t0006g0061 a0001c0001t0007g0004 a0001c0001t0007g0005 a0001c0001t0007g0021 a0001c0001t0007g0023 a0001c0001t0008g0012 a0001c0001t0010g0026 a0001c0001t0012g0017 a0001c0001t0012g0019 a0001c0001t0015g0046 a0001c0001t0016g0002 a0001c0001t0017g0011 a0001c0001t0021g0030 a0001c0001t0022g0031 a0001c0001t0025g0087 a0001c0001t0026g0117 a0001c0001t0027g0054 a0001c0005t0001g0064 a0001c0005t0007g0024 a0001c0008t0005g0103 a0002c0002t0001g0053 a0002c0002t0001g0114 a0002c0002t0004g0007 a0002c0002t0004g0008 a0002c0002t0005g0073 a0002c0002t0005g0074 a0002c0002t0005g0105 a0002c0002t0009g0039 a0002c0002t0009g0104 a0002c0002t0009g0113 a0002c0002t0011g0014 a0002c0002t0011g0020 a0002c0002t0013g0084 a0002c0002t0019g0025 a0002c0006t0003g0059 a0002c0010t0005g0119 a0003c0003t0002g0036 a0003c0003t0003g0034 a0003c0003t0003g0035 a0004c0004t0001g0100 a0004c0004t0004g0003 a0005c0009t0004g0006 a0006c0007t0004g0009	78	120	0.6500	-20	c.152 others(39): Show c.1525+3605_1525+3624delAAGGAGGGGAGGGGAGGGGA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	7/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47139124	TATTGAAA others(13): Show TATTGAAAACATATCTTCAAA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0026 a0001c0001t0010g0026	1	120	0.0083	-20	c.792 others(37): Show c.792+4934_792+4953delTTTGAAGATATGTTTTCAAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	4/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47155885	CTTCTTTT others(13): Show CTTCTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0026 a0001c0001t0010g0026	1	120	0.0083	-20	c.596 others(39): Show c.596-11631_596-11612delAAAAAAAAAAAAAAAAAGAA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	3/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47155888	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19043.hp2 HG02965.hp2 NA19043.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0027 a0004c0004t0024 a0001c0001t0027 a0004c0004t0024	a0001c0001t0027g0054 a0004c0004t0024g0032 a0001c0001t0027g0054 a0004c0004t0024g0032	2	120	0.0167	-20	c.596 others(39): Show c.596-11634_596-11615delAAAAAAAAAAAAAAAAAAAA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	3/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47389589	AACACACA others(13): Show AACACACACACACACACCCAC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01081.hp2 HG01175.hp1 others(2): Show HG01074.hp1 HG01081.hp2 HG01175.hp1 HG01358.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0016 a0001c0001t0021 a0001c0001t0022 others(2): Show a0001c0001t0016 a0001c0001t0021 a0001c0001t0022 a0001c0005t0001 a0001c0005t0007	a0001c0001t0016g0002 a0001c0001t0021g0030 a0001c0001t0022g0031 others(2): Show a0001c0001t0016g0002 a0001c0001t0021g0030 a0001c0001t0022g0031 a0001c0005t0001g0064 a0001c0005t0007g0024	5	120	0.0417	-20	c.281 others(39): Show c.281-88059_281-88040delGTGGGTGTGTGTGTGTGTGT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47537574	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02896.hp2 HG02257.hp2 HG02896.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0004	a0001c0001t0001g0111 a0002c0002t0004g0007 a0001c0001t0001g0111 a0002c0002t0004g0007	2	120	0.0167	-20	c.280 others(41): Show c.280+136923_280+136942delTTTTTTTTTTTTTTTTTTTT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDH1_chr2_63583963_63612197	63602934	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	354	0.0028	-20	c.499 others(37): Show c.499-1738_499-1719delTTTTTTTTTTTTTTTTTTTT	MDH1	ENSG00000014641.21	transcript	ENST00000233114.13	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
MDH2_chr7_76043106_76072508	76046274	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG02055.hp2 HG02080.hp2 others(13): Show HG00741.hp2 HG02055.hp2 HG02080.hp2 HG02723.hp1 HG03098.hp1 HG03579.hp2 HG03654.hp2 NA18946.hp2 NA18971.hp2 NA18981.hp2 NA18991.hp2 NA19010.hp1 NA19054.hp2 NA19063.hp2 NA19078.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0005 a0001c0001t0003g0012 a0001c0001t0003g0045 others(12): Show a0001c0001t0003g0005 a0001c0001t0003g0012 a0001c0001t0003g0045 a0001c0001t0003g0074 a0001c0001t0003g0085 a0001c0001t0003g0087 a0001c0001t0003g0110 a0002c0002t0002g0001 a0002c0002t0002g0003 a0002c0002t0002g0006 a0002c0002t0002g0020 a0002c0002t0002g0043 a0002c0002t0002g0063 a0002c0002t0002g0132 a0002c0002t0002g0133	16	398	0.0402	-20	c.-18 others(31): Show c.-1886_-1867delTGTGTGTGTGTGTGTGTGTG	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1831		chr7	TogoVar
MDH2_chr7_76043106_76072508	76046321	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGTGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG03688.hp2 NA18747.hp1 others(1): Show HG02717.hp1 HG03688.hp2 NA18747.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0032 a0001c0001t0003g0071 a0002c0002t0002g0044 others(1): Show a0001c0001t0003g0032 a0001c0001t0003g0071 a0002c0002t0002g0044 a0002c0002t0002g0060	4	398	0.0101	-20	c.-18 others(31): Show c.-1839_-1820delGTGTGTGTGTGTGTGTGTGC	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1784		chr7	TogoVar
MDH2_chr7_76043106_76072508	76046323	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02015.hp1 HG00639.hp2 HG02015.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0005 a0002c0002t0002g0004 a0001c0001t0003g0005 a0002c0002t0002g0004	2	398	0.0050	-20	c.-18 others(31): Show c.-1837_-1818delGTGTGTGTGTGTGTGTGCGC	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1782		chr7	TogoVar
MDH2_chr7_76043106_76072508	76046325	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGCGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 NA19043.hp2 HG03098.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0166 a0002c0002t0002g0029 a0001c0001t0003g0166 a0002c0002t0002g0029	2	398	0.0050	-20	c.-18 others(31): Show c.-1835_-1816delGTGTGTGTGTGTGTGCGCGC	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1780		chr7	TogoVar
MDH2_chr7_76043106_76072508	76046329	TGTGTGTG others(13): Show TGTGTGTGTGTGCGCGCGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00609.hp1 HG01934.hp1 others(6): Show HG00280.hp1 HG00609.hp1 HG01934.hp1 NA18952.hp2 NA19030.hp1 NA19058.hp2 NA19077.hp1 NA19081.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0024 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0105 a0001c0001t0001g0214 a0001c0001t0001g0229 a0001c0001t0007g0174	9	398	0.0226	-20	c.-18 others(31): Show c.-1831_-1812delGTGTGTGTGTGCGCGCGCGC	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1776		chr7	TogoVar
MDN1_chr6_89637498_89824794	89673701	CTAAATTT others(13): Show CTAAATTTATTCCATTAATGA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02809.hp2 NA18522.hp1 others(1): Show HG01884.hp2 HG02809.hp2 NA18522.hp1 NA19043.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0081 a0004c0009t0001g0132 a0004c0009t0001g0133 others(1): Show a0004c0009t0001g0081 a0004c0009t0001g0132 a0004c0009t0001g0133 a0004c0009t0001g0219	4	290	0.0138	-20	c.132 others(39): Show c.13248-259_13248-240delTCATTAATGGAATAAATTTA	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	79/101			chr6	TogoVar
MDN1_chr6_89637498_89824794	89809784	TAAATAAA others(13): Show TAAATAAAATAAAATAAAATA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03041.hp1 HG03139.hp1 others(1): Show HG02717.hp1 HG03041.hp1 HG03139.hp1 NA19240.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0082 a0004c0009t0001g0224 a0004c0009t0001g0225 others(1): Show a0004c0009t0001g0082 a0004c0009t0001g0224 a0004c0009t0001g0225 a0004c0009t0001g0226	4	290	0.0138	-20	c.103 others(37): Show c.103-6250_103-6231delTATTTTATTTTATTTTATTT	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	1/101			chr6	TogoVar
ME1_chr6_83205402_83436051	83263745	CAACATAA others(13): Show CAACATAACATAACATAACAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00639.hp1 others(37): Show HG00280.hp1 HG00408.hp1 HG00639.hp1 HG00642.hp2 HG01255.hp1 HG01256.hp2 HG01928.hp2 HG01978.hp2 HG02040.hp2 HG02083.hp1 HG02132.hp1 HG02559.hp2 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG03225.hp2 HG03492.hp2 HG03516.hp2 HG03688.hp1 HG03834.hp1 HG04199.hp2 HG04204.hp1 NA18941.hp1 NA18944.hp2 NA18948.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18965.hp2 NA18972.hp2 NA18973.hp2 NA18980.hp2 NA19000.hp2 NA19056.hp1 NA19063.hp2 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0002t0001 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0005t0002	a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0066 others(37): Show a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0119 a0001c0001t0001g0149 a0001c0001t0001g0212 a0001c0001t0002g0030 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0191 a0001c0001t0003g0240 a0001c0001t0010g0228 a0001c0002t0001g0089 a0001c0002t0001g0109 a0001c0002t0001g0125 a0001c0002t0001g0134 a0001c0002t0001g0140 a0001c0002t0001g0143 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0157 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0164 a0001c0002t0001g0166 a0001c0002t0001g0168 a0001c0002t0001g0179 a0001c0002t0001g0181 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0006g0232 a0001c0002t0006g0233 a0001c0002t0006g0235 a0001c0002t0007g0098 a0001c0002t0009g0001 a0001c0005t0002g0027	40	272	0.1471	-20	c.705 others(39): Show c.705-10027_705-10008delATGTTATGTTATGTTATGTT	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	6/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83369653	GAGGAAGG others(13): Show GAGGAAGGAAGGAAGGAACGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp1 HG01256.hp1 others(7): Show HG00408.hp2 HG00621.hp1 HG01256.hp1 HG01258.hp2 HG02074.hp2 HG02135.hp1 NA18967.hp2 NA18970.hp2 NA18972.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 others(7): Show a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0002g0035 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0203	10	272	0.0368	-20	c.363 others(39): Show c.363-17534_363-17515delTCGTTCCTTCCTTCCTTCCT	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83369671	CGAAGGAA others(13): Show CGAAGGAAGGAAGGAAGGAAG	C C	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18946.hp1 NA18939.hp1 NA18946.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0137 a0001c0002t0001g0138	2	272	0.0074	-20	c.363 others(39): Show c.363-17552_363-17533delCTTCCTTCCTTCCTTCCTTC	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME3_chr11_86436108_86677616	86521398	AACAAACA others(13): Show AACAAACAAACAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01256.hp2 HG01258.hp1 others(13): Show HG00099.hp2 HG01256.hp2 HG01258.hp1 HG01361.hp2 HG02622.hp2 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03704.hp2 NA18951.hp1 NA18959.hp2 NA18960.hp1 NA18970.hp1 NA19009.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0007 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0002c0007t0001 a0003c0011t0001	a0001c0001t0001g0147 a0001c0001t0002g0286 a0001c0001t0002g0289 others(13): Show a0001c0001t0001g0147 a0001c0001t0002g0286 a0001c0001t0002g0289 a0001c0001t0002g0298 a0001c0002t0001g0130 a0001c0002t0001g0139 a0001c0002t0001g0144 a0001c0002t0001g0167 a0001c0002t0002g0268 a0001c0006t0001g0093 a0001c0006t0001g0108 a0001c0006t0001g0109 a0001c0006t0001g0110 a0002c0007t0001g0148 a0003c0011t0001g0197 a0003c0011t0001g0198	16	320	0.0500	-20	c.468 others(39): Show c.468-12551_468-12532delGTTTTGTTTTGTTTGTTTGT	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	4/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86661831	AGTATTGT others(13): Show AGTATTGTATTGTATTGTATT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01361.hp2 HG02071.hp1 others(6): Show HG01109.hp1 HG01361.hp2 HG02071.hp1 HG02647.hp1 HG02723.hp2 HG03654.hp1 NA19043.hp2 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 others(2): Show a0001c0001 a0001c0002 a0002c0005 a0002c0007 a0002c0008	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0002c0005t0002 a0002c0007t0001 a0002c0008t0002 a0002c0008t0003	a0001c0001t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0166 others(6): Show a0001c0001t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0166 a0001c0002t0002g0268 a0001c0002t0002g0269 a0002c0005t0002g0270 a0002c0007t0001g0176 a0002c0008t0002g0267 a0002c0008t0003g0007	9	320	0.0281	-20	c.183 others(37): Show c.183+9911_183+9930delAATACAATACAATACAATAC	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
MECOM_chr3_169078507_169668712	169183757	TACATACA others(13): Show TACATACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18963.hp2 NA18965.hp2 NA18962.hp1 NA18963.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0021 a0001c0001t0005 a0001c0001t0007 a0001c0001t0021	a0001c0001t0005g0096 a0001c0001t0007g0127 a0001c0001t0021g0150 a0001c0001t0005g0096 a0001c0001t0007g0127 a0001c0001t0021g0150	3	160	0.0188	-20	c.376 others(39): Show c.376-39945_376-39926delGTGTGTGTGTGTGTGTATGT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169183803	CACACACA others(13): Show CACACACACACACACACATAT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA18522.hp1 HG01255.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0036 a0001c0001t0003 a0001c0001t0036	a0001c0001t0003g0031 a0001c0001t0036g0025 a0001c0001t0003g0031 a0001c0001t0036g0025	2	160	0.0125	-20	c.376 others(39): Show c.376-39991_376-39972delATATGTGTGTGTGTGTGTGT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169186378	AAGGGAGG others(13): Show AAGGGAGGGAGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG04228.hp2 HG00741.hp2 HG04228.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0015 a0001c0001 a0006c0015	a0001c0001t0013 a0006c0015t0022 a0001c0001t0013 a0006c0015t0022	a0001c0001t0013g0045 a0006c0015t0022g0001 a0001c0001t0013g0045 a0006c0015t0022g0001	2	160	0.0125	-20	c.376 others(39): Show c.376-42566_376-42547delCCCTCCCTCCCTCCCTCCCT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169212633	AATGTATA others(13): Show AATGTATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp2 HG02572.hp2 others(6): Show HG02109.hp2 HG02559.hp2 HG02572.hp2 HG02723.hp2 HG03471.hp1 HG03540.hp2 NA19011.hp2 NA19043.hp1 NA19043.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0013 a0001c0001 a0002c0002 a0004c0013	a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 others(6): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0002c0002t0002 a0002c0002t0003 a0002c0002t0047 a0004c0013t0002	a0001c0001t0004g0070 a0001c0001t0006g0115 a0001c0001t0009g0141 others(6): Show a0001c0001t0004g0070 a0001c0001t0006g0115 a0001c0001t0009g0141 a0001c0001t0013g0050 a0001c0001t0014g0146 a0002c0002t0002g0087 a0002c0002t0003g0033 a0002c0002t0047g0153 a0004c0013t0002g0074	9	160	0.0563	-20	c.376 others(39): Show c.376-68821_376-68802delATATATATATATATATACAT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169263077	CTATATAT others(13): Show CTATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03540.hp1 HG02258.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0002 a0001c0001t0005 a0001c0003t0002	a0001c0001t0005g0094 a0001c0003t0002g0075 a0001c0001t0005g0094 a0001c0003t0002g0075	2	160	0.0125	-20	c.375 others(41): Show c.375+118090_375+118109delTATATATATATATATATATA	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169378442	AAAGAAAG others(13): Show AAAGAAAGAAGGAAAGCAAGC	A A	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0044 a0001c0001t0013g0044	1	160	0.0063	-20	c.375 others(37): Show c.375+2725_375+2744delGCTTGCTTTCCTTCTTTCTT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169378446	AAAGAAGG others(13): Show AAAGAAGGAAAGCAAGCAAGC	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0050 a0001c0006t0050	a0001c0006t0050g0157 a0001c0006t0050g0157	1	160	0.0063	-20	c.375 others(37): Show c.375+2721_375+2740delGCTTGCTTGCTTTCCTTCTT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169378450	AAGGAAAG others(13): Show AAGGAAAGCAAGCAAGCAAGC	A A	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19030.hp2 NA19002.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0003 a0001c0001t0019	a0001c0001t0003g0037 a0001c0001t0019g0013 a0001c0001t0003g0037 a0001c0001t0019g0013	2	160	0.0125	-20	c.375 others(37): Show c.375+2717_375+2736delGCTTGCTTGCTTGCTTTCCT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169378458	CAAGCAAG others(13): Show CAAGCAAGCAAGCAAGCAAGA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02717.hp2 HG03471.hp2 HG02486.hp2 HG02717.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0009 a0001c0001 a0001c0004 a0001c0009	a0001c0001t0006 a0001c0004t0001 a0001c0009t0007 a0001c0001t0006 a0001c0004t0001 a0001c0009t0007	a0001c0001t0006g0124 a0001c0004t0001g0059 a0001c0009t0007g0132 a0001c0001t0006g0124 a0001c0004t0001g0059 a0001c0009t0007g0132	3	160	0.0188	-20	c.375 others(37): Show c.375+2709_375+2728delTCTTGCTTGCTTGCTTGCTT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169378462	CAAGCAAG others(13): Show CAAGCAAGCAAGCAAGAAAGA	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA18975.hp1 NA19060.hp1 HG02896.hp1 NA18975.hp1 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0037 a0002c0002t0004 a0001c0001t0001 a0001c0001t0037 a0002c0002t0004	a0001c0001t0001g0048 a0001c0001t0037g0034 a0002c0002t0004g0065 a0001c0001t0001g0048 a0001c0001t0037g0034 a0002c0002t0004g0065	3	160	0.0188	-20	c.375 others(37): Show c.375+2705_375+2724delTCTTTCTTGCTTGCTTGCTT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169433639	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp2 HG02080.hp2 others(3): Show HG00738.hp1 HG01081.hp2 HG02080.hp2 NA18941.hp1 NA19002.hp2 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0019 a0002c0002t0002 a0002c0002t0043	a0001c0001t0002g0084 a0001c0001t0004g0067 a0001c0001t0007g0130 others(3): Show a0001c0001t0002g0084 a0001c0001t0004g0067 a0001c0001t0007g0130 a0001c0001t0019g0013 a0002c0002t0002g0086 a0002c0002t0043g0126	6	160	0.0375	-20	c.38- others(37): Show c.38-52135_38-52116delTTCTTTCTTTCTTTCTTTCT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169472464	GAAGGAAA others(13): Show GAAGGAAAGGAAAGGAAAGGA	G G	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	160	0.0063	-20	c.38- others(37): Show c.38-90960_38-90941delTCCTTTCCTTTCCTTTCCTT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169477093	GTGTGTGT others(13): Show GTGTGTGTGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18965.hp2 HG02015.hp2 NA18965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0002c0002t0042 a0001c0001t0007 a0002c0002t0042	a0001c0001t0007g0127 a0002c0002t0042g0117 a0001c0001t0007g0127 a0002c0002t0042g0117	2	160	0.0125	-20	c.38- others(37): Show c.38-95589_38-95570delTATATATACACACACACACA	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169576796	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03471.hp2 HG02615.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0104 a0001c0001t0006g0124 a0001c0001t0005g0104 a0001c0001t0006g0124	2	160	0.0125	-20	c.37+ others(37): Show c.37+86520_37+86539delGTGTGTGTGTGTGTGTGTGT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MECP2_chrX_154016573_154102717	154037143	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp1 others(79): Show HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00621.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01192.hp1 HG01255.hp1 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01943.hp1 HG02027.hp1 HG02071.hp1 HG02080.hp1 HG02129.hp1 HG02257.hp1 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03139.hp1 HG03486.hp2 HG03492.hp1 HG03688.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18943.hp1 NA18945.hp1 NA18946.hp2 NA18964.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18984.hp1 NA18988.hp1 NA19000.hp1 NA19006.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19056.hp1 NA19062.hp1 NA19064.hp2 NA19072.hp1 NA19074.hp2 NA19075.hp1 NA19079.hp1 NA19083.hp1 NA19084.hp2 NA19090.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0006 a0001c0008 others(4): Show a0001c0001 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0004c0005 a0005c0007	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(29): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0052 a0001c0001t0053 a0001c0001t0055 a0001c0001t0057 a0001c0001t0062 a0001c0006t0002 a0001c0008t0001 a0001c0009t0051 a0001c0010t0001 a0004c0005t0002 a0005c0007t0002	a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0014 others(78): Show a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0001t0002g0095 a0001c0001t0002g0111 a0001c0001t0002g0114 a0001c0001t0002g0147 a0001c0001t0002g0167 a0001c0001t0002g0186 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0222 a0001c0001t0004g0054 a0001c0001t0008g0011 a0001c0001t0008g0090 a0001c0001t0008g0092 a0001c0001t0013g0039 a0001c0001t0013g0046 a0001c0001t0013g0077 a0001c0001t0017g0010 a0001c0001t0017g0064 a0001c0001t0019g0063 a0001c0001t0019g0108 a0001c0001t0021g0055 a0001c0001t0021g0109 a0001c0001t0023g0004 a0001c0001t0024g0005 a0001c0001t0027g0049 a0001c0001t0030g0093 a0001c0001t0031g0116 a0001c0001t0032g0185 a0001c0001t0035g0018 a0001c0001t0036g0023 a0001c0001t0037g0043 a0001c0001t0039g0060 a0001c0001t0043g0225 a0001c0001t0044g0081 a0001c0001t0045g0096 a0001c0001t0046g0022 a0001c0001t0052g0044 a0001c0001t0053g0027 a0001c0001t0055g0115 a0001c0001t0057g0026 a0001c0001t0062g0031 a0001c0006t0002g0020 a0001c0008t0001g0123 a0001c0009t0051g0220 a0001c0010t0001g0069 a0004c0005t0002g0112 a0005c0007t0002g0110	82	230	0.3565	-20	c.27- others(35): Show c.27-4606_27-4587delATATATATATATATATATAT	MECP2	ENSG00000169057.25	transcript	ENST00000303391.11	protein_coding	2/3			chrX	TogoVar
MECP2_chrX_154016573_154102717	154037167	TATATATA others(13): Show TATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	230	0.0044	-20	c.27- others(35): Show c.27-4630_27-4611delGTATATATATATATATATAT	MECP2	ENSG00000169057.25	transcript	ENST00000303391.11	protein_coding	2/3			chrX	TogoVar

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