Joint Open Genome and Omics Platform (JoGo)

Search Results

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MAMDC2_chr9_70038848_70231972	70118297	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp1 HG02615.hp1 others(5): Show HG02280.hp1 HG02559.hp1 HG02615.hp1 HG02717.hp2 HG02922.hp2 HG04204.hp2 NA18966.hp2 NA18969.hp2	a0001 a0003 a0016 a0001 a0003 a0016	a0001c0001 a0003c0004 a0003c0011 others(1): Show a0001c0001 a0003c0004 a0003c0011 a0016c0022	a0001c0001t0001 a0001c0001t0005 a0003c0004t0003 others(2): Show a0001c0001t0001 a0001c0001t0005 a0003c0004t0003 a0003c0011t0001 a0016c0022t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0079 others(5): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0005g0051 a0003c0004t0003g0159 a0003c0011t0001g0175 a0016c0022t0001g0077	8	340	0.0235	20	c.643 others(37): Show c.643+5197_643+5216dupCACACACACACACACACACA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(13): Show TATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18967.hp1 NA18612.hp1 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0110 a0002c0002t0002g0141 a0002c0002t0002g0110 a0002c0002t0002g0141	2	340	0.0059	20	c.191 others(39): Show c.1911+2785_1911+2786insTATATAGAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(13): Show TATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0138 a0002c0002t0002g0138	1	340	0.0029	20	c.191 others(39): Show c.1911+2785_1911+2786insTATATATAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(13): Show TATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0101 a0002c0002t0002g0101	1	340	0.0029	20	c.191 others(39): Show c.1911+2785_1911+2786insTATATATATAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(13): Show TATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	340	0.0029	20	c.191 others(39): Show c.1911+2785_1911+2786insTATATATATATATAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(13): Show TATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0121 a0002c0002t0002g0121	1	340	0.0029	20	c.191 others(39): Show c.1911+2785_1911+2786insTATATATATATATATATAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAML2_chr11_95971598_96348195	95998122	A A	ATCTGTCT others(13): Show ATCTGTCTGTCTGTCAGTCTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0097	1	230	0.0044	20	c.214 others(39): Show c.2140-6400_2140-6399insCAGACTGACAGACAGACAGA	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	95998141	A A	AGTCTGTC others(13): Show AGTCTGTCTGTCTGTCTGTCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03486.hp1 HG00323.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0007 a0002c0003t0012 a0001c0002t0007 a0002c0003t0012	a0001c0002t0007g0038 a0002c0003t0012g0189 a0001c0002t0007g0038 a0002c0003t0012g0189	2	230	0.0087	20	c.214 others(39): Show c.2140-6438_2140-6419dupAGACAGACAGACAGACAGAC	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	95998174	G G	GTCTGTCT others(13): Show GTCTGTCTGTCTGTCTATCTA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG00673.hp2 others(12): Show HG00597.hp2 HG00621.hp1 HG00673.hp2 HG01167.hp1 HG01169.hp1 HG02148.hp2 HG02258.hp1 HG03017.hp1 HG03225.hp1 HG03579.hp2 HG03831.hp2 HG03942.hp1 HG04228.hp2 NA18955.hp2 NA19062.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0026 others(3): Show a0001c0001 a0001c0002 a0001c0026 a0002c0003 a0003c0006 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0031 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0031 a0001c0002t0002 a0001c0002t0003 a0001c0002t0021 a0001c0026t0001 a0002c0003t0008 a0003c0006t0010 a0004c0005t0007	a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0131 others(12): Show a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0131 a0001c0001t0001g0190 a0001c0001t0002g0020 a0001c0001t0031g0086 a0001c0002t0002g0037 a0001c0002t0002g0061 a0001c0002t0003g0138 a0001c0002t0003g0199 a0001c0002t0021g0229 a0001c0026t0001g0109 a0002c0003t0008g0094 a0003c0006t0010g0018 a0004c0005t0007g0043	15	230	0.0652	20	c.214 others(39): Show c.2140-6452_2140-6451insTAGATAGACAGACAGACAGA	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	95998174	G G	GTCTGTCT others(13): Show GTCTGTCTGTCTGTCTGTCTA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03225.hp2 NA18971.hp2 HG01109.hp2 HG03225.hp2 NA18971.hp2	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0002 a0006c0009 a0008c0016 a0001c0002 a0006c0009 a0008c0016	a0001c0002t0002 a0006c0009t0023 a0008c0016t0009 a0001c0002t0002 a0006c0009t0023 a0008c0016t0009	a0001c0002t0002g0053 a0006c0009t0023g0048 a0008c0016t0009g0070 a0001c0002t0002g0053 a0006c0009t0023g0048 a0008c0016t0009g0070	3	230	0.0130	20	c.214 others(39): Show c.2140-6452_2140-6451insTAGACAGACAGACAGACAGA	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96034432	T T	TGTGTGTG others(13): Show TGTGTGTGTGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0078 a0001c0001t0009g0078	1	230	0.0044	20	c.214 others(41): Show c.2140-42710_2140-42709insTCTCTCTCTCTCACACACAC	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96068438	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02055.hp2 HG02080.hp1 others(1): Show HG01081.hp1 HG02055.hp2 HG02080.hp1 NA18612.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0003 a0003c0006 a0001c0002 a0002c0003 a0003c0006	a0001c0002t0003 a0001c0002t0027 a0002c0003t0004 others(1): Show a0001c0002t0003 a0001c0002t0027 a0002c0003t0004 a0003c0006t0006	a0001c0002t0003g0211 a0001c0002t0027g0002 a0002c0003t0004g0196 others(1): Show a0001c0002t0003g0211 a0001c0002t0027g0002 a0002c0003t0004g0196 a0003c0006t0006g0106	4	230	0.0174	20	c.213 others(41): Show c.2139+23434_2139+23453dupTGTGTGTGTGTGTGTGTGTG	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96121780	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03710.hp1 NA18991.hp1 others(1): Show HG03491.hp2 HG03710.hp1 NA18991.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0003 a0003c0004 a0001c0002 a0002c0003 a0003c0004	a0001c0002t0001 a0002c0003t0008 a0002c0003t0009 others(1): Show a0001c0002t0001 a0002c0003t0008 a0002c0003t0009 a0003c0004t0010	a0001c0002t0001g0110 a0002c0003t0008g0100 a0002c0003t0009g0081 others(1): Show a0001c0002t0001g0110 a0002c0003t0008g0100 a0002c0003t0009g0081 a0003c0004t0010g0023	4	230	0.0174	20	c.514 others(39): Show c.514-28283_514-28264dupAAAAAAAAAAAAAAAAAAAA	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96155509	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01884.hp2 HG02630.hp1 others(4): Show HG00642.hp1 HG01884.hp2 HG02630.hp1 HG02818.hp2 HG03927.hp2 NA18991.hp1 NA19074.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0004c0008	a0001c0001t0008 a0001c0002t0001 a0002c0003t0001 others(3): Show a0001c0001t0008 a0001c0002t0001 a0002c0003t0001 a0002c0003t0008 a0003c0004t0006 a0004c0008t0001	a0001c0001t0008g0163 a0001c0002t0001g0110 a0001c0002t0001g0111 others(4): Show a0001c0001t0008g0163 a0001c0002t0001g0110 a0001c0002t0001g0111 a0002c0003t0001g0186 a0002c0003t0008g0095 a0003c0004t0006g0113 a0004c0008t0001g0165	7	230	0.0304	20	c.514 others(39): Show c.514-62012_514-61993dupATATATATATATATATATAT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96159404	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	230	0.0044	20	c.514 others(39): Show c.514-65888_514-65887insAAAAAAAAAAAAAAAAAAAA	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96240557	C C	CAACAAAA others(13): Show CAACAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01256.hp1 HG01258.hp1 others(6): Show HG00438.hp2 HG01256.hp1 HG01258.hp1 HG02004.hp2 HG02080.hp1 HG02280.hp1 HG02630.hp1 NA18949.hp1 NA18971.hp1	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0001 a0001c0002 a0003c0004 others(1): Show a0001c0001 a0001c0002 a0003c0004 a0011c0015	a0001c0001t0002 a0001c0001t0008 a0001c0001t0022 others(6): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0022 a0001c0001t0028 a0001c0002t0001 a0001c0002t0021 a0001c0002t0027 a0003c0004t0036 a0011c0015t0002	a0001c0001t0002g0019 a0001c0001t0008g0163 a0001c0001t0022g0001 others(6): Show a0001c0001t0002g0019 a0001c0001t0008g0163 a0001c0001t0022g0001 a0001c0001t0028g0083 a0001c0002t0001g0121 a0001c0002t0021g0226 a0001c0002t0027g0002 a0003c0004t0036g0114 a0011c0015t0002g0046	9	230	0.0391	20	c.513 others(41): Show c.513+100825_513+100826insTTTTTTTTTTTTTTTTTGTT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96299058	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02683.hp1 HG02738.hp2 others(1): Show HG01257.hp2 HG02683.hp1 HG02738.hp2 HG03834.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0008 a0001c0001 a0001c0002 a0004c0008	a0001c0001t0001 a0001c0002t0001 a0001c0002t0032 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0032 a0004c0008t0001	a0001c0001t0001g0220 a0001c0002t0001g0201 a0001c0002t0032g0087 others(1): Show a0001c0001t0001g0220 a0001c0002t0001g0201 a0001c0002t0032g0087 a0004c0008t0001g0208	4	230	0.0174	20	c.513 others(39): Show c.513+42324_513+42325insATATATATATATATATATAT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96299060	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02132.hp1 HG03017.hp1 others(2): Show HG01175.hp2 HG02132.hp1 HG03017.hp1 HG03195.hp2 NA18979.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0006 others(1): Show a0001c0001 a0001c0002 a0003c0006 a0004c0005	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0003c0006t0010 a0004c0005t0004	a0001c0001t0001g0167 a0001c0002t0001g0200 a0001c0002t0002g0061 others(2): Show a0001c0001t0001g0167 a0001c0002t0001g0200 a0001c0002t0002g0061 a0003c0006t0010g0008 a0004c0005t0004g0177	5	230	0.0217	20	c.513 others(39): Show c.513+42303_513+42322dupATATATATATATATATATAT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML3_chr4_139711753_140159184	139776760	T T	TTCCATGG others(13): Show TTCCATGGGAAAAGGACATGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG00741.hp1 others(55): Show HG00642.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp2 HG01106.hp2 HG01257.hp2 HG01361.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01981.hp1 HG01981.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02523.hp1 HG02630.hp1 HG02723.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03942.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18963.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18991.hp2 NA19043.hp1 NA19065.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0012 a0016	a0001c0001 a0001c0002 a0001c0004 others(14): Show a0001c0001 a0001c0002 a0001c0004 a0001c0011 a0001c0015 a0002c0003 a0003c0005 a0004c0006 a0004c0012 a0004c0020 a0005c0007 a0005c0014 a0006c0008 a0008c0013 a0010c0024 a0012c0026 a0016c0028	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(40): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0020 a0001c0001t0039 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 a0001c0002t0014 a0001c0002t0016 a0001c0002t0026 a0001c0004t0001 a0001c0004t0002 a0001c0011t0001 a0001c0015t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0015 a0002c0003t0046 a0003c0005t0001 a0003c0005t0002 a0003c0005t0003 a0003c0005t0010 a0003c0005t0015 a0003c0005t0027 a0004c0006t0004 a0004c0006t0008 a0004c0006t0043 a0004c0012t0004 a0004c0020t0035 a0005c0007t0006 a0005c0007t0047 a0005c0014t0013 a0006c0008t0001 a0006c0008t0009 a0006c0008t0025 a0008c0013t0037 a0010c0024t0038 a0012c0026t0041 a0016c0028t0001	a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0034 others(55): Show a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0052 a0001c0001t0007g0072 a0001c0001t0009g0132 a0001c0001t0020g0126 a0001c0001t0039g0116 a0001c0002t0001g0020 a0001c0002t0001g0082 a0001c0002t0001g0098 a0001c0002t0002g0093 a0001c0002t0003g0039 a0001c0002t0005g0099 a0001c0002t0010g0097 a0001c0002t0014g0148 a0001c0002t0016g0006 a0001c0002t0016g0007 a0001c0002t0026g0002 a0001c0004t0001g0016 a0001c0004t0001g0017 a0001c0004t0001g0040 a0001c0004t0001g0108 a0001c0004t0002g0024 a0001c0004t0002g0038 a0001c0004t0002g0060 a0001c0004t0002g0080 a0001c0011t0001g0103 a0001c0015t0001g0051 a0002c0003t0001g0086 a0002c0003t0002g0012 a0002c0003t0002g0014 a0002c0003t0003g0010 a0002c0003t0003g0046 a0002c0003t0015g0005 a0002c0003t0046g0149 a0003c0005t0001g0053 a0003c0005t0001g0066 a0003c0005t0002g0100 a0003c0005t0003g0073 a0003c0005t0010g0068 a0003c0005t0015g0008 a0003c0005t0027g0004 a0004c0006t0004g0025 a0004c0006t0008g0127 a0004c0006t0043g0151 a0004c0012t0004g0030 a0004c0020t0035g0047 a0005c0007t0006g0122 a0005c0007t0047g0152 a0005c0014t0013g0138 a0006c0008t0001g0049 a0006c0008t0009g0128 a0006c0008t0025g0003 a0008c0013t0037g0117 a0010c0024t0038g0113 a0012c0026t0041g0125 a0016c0028t0001g0059	58	152	0.3816	20	c.208 others(41): Show c.2080-46094_2080-46093insTCATGTCCTTTTCCCATGGA	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	139781508	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0060 a0001c0004t0002g0060	1	152	0.0066	20	c.208 others(41): Show c.2080-50861_2080-50842dupATATATATATATATATATAT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	139790216	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0013 a0005c0007t0013	a0005c0007t0013g0146 a0005c0007t0013g0146	1	152	0.0066	20	c.208 others(41): Show c.2080-59569_2080-59550dupATATATATATATATATATAT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	139852403	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTGTTGTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03041.hp2 HG02145.hp1 HG03041.hp2	a0003 a0006 a0003 a0006	a0003c0005 a0006c0008 a0003c0005 a0006c0008	a0003c0005t0040 a0006c0008t0025 a0003c0005t0040 a0006c0008t0025	a0003c0005t0040g0118 a0006c0008t0025g0003 a0003c0005t0040g0118 a0006c0008t0025g0003	2	152	0.0132	20	c.207 others(41): Show c.2079+36953_2079+36954insAACAACAAAAAAAAAAAAAA	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	139852403	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTGTTGT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0002 a0009c0016t0002	a0009c0016t0002g0009 a0009c0016t0002g0009	1	152	0.0066	20	c.207 others(41): Show c.2079+36953_2079+36954insACAACAAAAAAAAAAAAAAA	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	139861477	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0047 a0005c0007t0047	a0005c0007t0047g0152 a0005c0007t0047g0152	1	152	0.0066	20	c.207 others(41): Show c.2079+27860_2079+27879dupCACACACACACACACACACA	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	139896607	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02055.hp2 HG02145.hp1 others(4): Show HG00735.hp2 HG02055.hp2 HG02145.hp1 HG02148.hp1 HG02809.hp2 HG03017.hp1 HG03041.hp2	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0006 a0007 a0008	a0001c0027 a0003c0005 a0005c0014 others(3): Show a0001c0027 a0003c0005 a0005c0014 a0006c0008 a0007c0009 a0008c0013	a0001c0027t0001 a0003c0005t0007 a0003c0005t0040 others(4): Show a0001c0027t0001 a0003c0005t0007 a0003c0005t0040 a0005c0014t0001 a0006c0008t0025 a0007c0009t0014 a0008c0013t0037	a0001c0027t0001g0065 a0003c0005t0007g0045 a0003c0005t0040g0118 others(4): Show a0001c0027t0001g0065 a0003c0005t0007g0045 a0003c0005t0040g0118 a0005c0014t0001g0031 a0006c0008t0025g0003 a0007c0009t0014g0143 a0008c0013t0037g0117	7	152	0.0461	20	c.469 others(37): Show c.469-5660_469-5641dupACACACACACACACACACAC	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	139942171	A A	AAGGCAGG others(13): Show AAGGCAGGCAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0016 a0016	a0016c0028 a0016c0028	a0016c0028t0001 a0016c0028t0001	a0016c0028t0001g0059 a0016c0028t0001g0059	1	152	0.0066	20	c.469 others(39): Show c.469-51224_469-51205dupGCCTGCCTGCCTGCCTGCCT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	140011233	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01192.hp2 HG01257.hp1 others(2): Show HG00642.hp2 HG01192.hp2 HG01257.hp1 HG01361.hp2 HG02523.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0023 a0002c0003 others(1): Show a0001c0001 a0001c0023 a0002c0003 a0006c0008	a0001c0001t0018 a0001c0001t0019 a0001c0023t0002 others(2): Show a0001c0001t0018 a0001c0001t0019 a0001c0023t0002 a0002c0003t0003 a0006c0008t0001	a0001c0001t0018g0114 a0001c0001t0019g0115 a0001c0023t0002g0075 others(2): Show a0001c0001t0018g0114 a0001c0001t0019g0115 a0001c0023t0002g0075 a0002c0003t0003g0089 a0006c0008t0001g0049	5	152	0.0329	20	c.469 others(41): Show c.469-120286_469-120267dupATATATATATATATATATAT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	140060365	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02258.hp2 HG02698.hp1 others(2): Show HG00140.hp1 HG02258.hp2 HG02698.hp1 HG02723.hp1 NA19043.hp1	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0003 a0004c0006 a0006c0008 a0002c0003 a0004c0006 a0006c0008	a0002c0003t0002 a0002c0003t0003 a0004c0006t0008 others(1): Show a0002c0003t0002 a0002c0003t0003 a0004c0006t0008 a0006c0008t0029	a0002c0003t0002g0014 a0002c0003t0002g0107 a0002c0003t0003g0010 others(2): Show a0002c0003t0002g0014 a0002c0003t0002g0107 a0002c0003t0003g0010 a0004c0006t0008g0131 a0006c0008t0029g0094	5	152	0.0329	20	c.468 others(39): Show c.468+92475_468+92494dupTTTTTTTTTTTTTTTTTTTT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	140092076	G G	GTATATAT others(13): Show GTATATATATACGTATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0012 a0011c0021t0012	a0011c0021t0012g0071 a0011c0021t0012g0071	1	152	0.0066	20	c.468 others(39): Show c.468+60764_468+60783dupTATATATACGTATATATATA	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAMLD1_chrX_150358317_150519173	150394129	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02155.hp1 NA20300.hp2 HG00741.hp2 HG02155.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0001c0001t0001 a0001c0001t0002 a0002c0002t0002	a0001c0001t0001g0065 a0001c0001t0002g0111 a0002c0002t0002g0022 a0001c0001t0001g0065 a0001c0001t0002g0111 a0002c0002t0002g0022	3	226	0.0133	20	c.-64 others(39): Show c.-64+30605_-64+30624dupTTTTTTTTTTTTTTTTTTTT	MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAMLD1_chrX_150358317_150519173	150403940	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0136 a0007c0010t0001g0136	1	226	0.0044	20	c.-64 others(39): Show c.-64+40449_-64+40468dupAGAAAGAAAGAAAGAAAGAA	MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAMLD1_chrX_150358317_150519173	150481964	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0040 a0004c0004t0003g0040	1	226	0.0044	20	c.204 others(39): Show c.2040+8213_2040+8232dupAGAAAGAAAGAAAGAAAGAA	MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAMSTR_chr19_48707725_48724725	48707838	G G	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 NA18942.hp2 NA18980.hp2 others(1): Show HG02040.hp2 NA18942.hp2 NA18980.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0032 a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0032	4	386	0.0104	20	c.54 others(31): Show c.5428_*5429insTTTCTTTCTTTCTTTCTTTC	MAMSTR	ENSG00000176909.12	transcript	ENST00000318083.11	protein_coding		4886		chr19	TogoVar
MAMSTR_chr19_48707725_48724725	48707888	A A	AAAGAAAG others(13): Show AAAGAAAGAAAGAAAGAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02818.hp1 HG02886.hp1 others(4): Show HG02109.hp1 HG02818.hp1 HG02886.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0031 a0001c0001t0002g0093 a0001c0001t0002g0008 a0001c0001t0002g0031 a0001c0001t0002g0093	7	386	0.0181	20	c.53 others(31): Show c.5378_*5379insCTTTTCTTTCTTTCTTTCTT	MAMSTR	ENSG00000176909.12	transcript	ENST00000318083.11	protein_coding		4836		chr19	TogoVar
MAN1A1_chr6_119172205_119354761	119242134	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp1 HG02615.hp2 others(8): Show HG01884.hp1 HG02451.hp1 HG02615.hp2 HG02717.hp1 HG02897.hp2 HG02965.hp2 HG03041.hp1 HG03471.hp2 HG03540.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 a0001c0002t0001	a0001c0001t0001g0157 a0001c0001t0002g0309 a0001c0001t0002g0311 others(8): Show a0001c0001t0001g0157 a0001c0001t0002g0309 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0004g0025 a0001c0001t0004g0030 a0001c0001t0016g0109 a0001c0001t0016g0277 a0001c0002t0001g0278	11	350	0.0314	20	c.992 others(37): Show c.992+6125_992+6126insGTGTGTGTGTGTGTGTGTGT	MAN1A1	ENSG00000111885.7	transcript	ENST00000368468.4	protein_coding	6/12			chr6	TogoVar
MAN1A1_chr6_119172205_119354761	119331570	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0315 a0001c0002t0002g0316	2	350	0.0057	20	c.603 others(39): Show c.603+16873_603+16892dupATATATATATATATATATAT	MAN1A1	ENSG00000111885.7	transcript	ENST00000368468.4	protein_coding	2/12			chr6	TogoVar
MAN1A2_chr1_117362449_117533872	117417534	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00735.hp1 HG01346.hp1 others(11): Show HG00673.hp1 HG00735.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01884.hp2 HG01952.hp2 HG02451.hp1 HG02559.hp2 HG02622.hp1 HG02647.hp2 HG04204.hp2 NA18990.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0058 a0001c0001t0074 a0001c0001t0087 a0001c0001t0095 a0001c0001t0112 a0001c0001t0120 a0001c0001t0160 a0001c0002t0109	a0001c0001t0001g0145 a0001c0001t0001g0182 a0001c0001t0001g0202 others(11): Show a0001c0001t0001g0145 a0001c0001t0001g0182 a0001c0001t0001g0202 a0001c0001t0002g0195 a0001c0001t0016g0022 a0001c0001t0058g0226 a0001c0001t0058g0227 a0001c0001t0074g0086 a0001c0001t0087g0211 a0001c0001t0095g0159 a0001c0001t0112g0073 a0001c0001t0120g0069 a0001c0001t0160g0257 a0001c0002t0109g0041	14	370	0.0378	20	c.774 others(37): Show c.774+2708_774+2727dupATATATATATATATATATAT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117445866	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0181 a0001c0001t0041g0181	1	370	0.0027	20	c.950 others(37): Show c.950+3542_950+3543insATATATATATATATATATAT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117512750	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03486.hp2 NA19087.hp2 HG03209.hp1 HG03486.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0165 a0001c0001t0172 a0001c0001t0017 a0001c0001t0165 a0001c0001t0172	a0001c0001t0017g0249 a0001c0001t0165g0245 a0001c0001t0172g0230 a0001c0001t0017g0249 a0001c0001t0165g0245 a0001c0001t0172g0230	3	370	0.0081	20	c.179 others(39): Show c.1793+9795_1793+9814dupACACACACACACACACACAC	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117526876	C C	CTATATAT others(13): Show CTATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0156 a0001c0001t0156	a0001c0001t0156g0260 a0001c0001t0156g0260	1	370	0.0027	20	c.39 others(31): Show c.3920_*3921insATATATATATATATATATAT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	13/13	3921	INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117526878	C C	CTATATAT others(13): Show CTATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0158 a0001c0001t0158	a0001c0001t0158g0244 a0001c0001t0158g0244	1	370	0.0027	20	c.39 others(31): Show c.3922_*3923insATATATATATATATATATAT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	13/13	3923	INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117526880	C C	CTATATAT others(13): Show CTATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0162 a0001c0001t0162	a0001c0001t0162g0256 a0001c0001t0162g0256	1	370	0.0027	20	c.39 others(31): Show c.3933_*3952dupATATATATATATATATATAT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	13/13	3953	INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117526880	C C	CTCTATAT others(13): Show CTCTATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0102	a0001c0001t0102g0025 a0001c0001t0102g0025	1	370	0.0027	20	c.39 others(31): Show c.3924_*3925insCTATATATATATATATATAT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	13/13	3925	INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117526880	C C	CTCTCTAT others(13): Show CTCTCTATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0165 a0001c0001t0165	a0001c0001t0165g0245 a0001c0001t0165g0245	1	370	0.0027	20	c.39 others(31): Show c.3924_*3925insCTCTATATATATATATATAT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	13/13	3925	INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117526880	C C	CTCTCTCT others(13): Show CTCTCTCTATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19082.hp2 NA20300.hp2 NA19082.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0169 a0001c0007t0106 a0001c0001t0169 a0001c0007t0106	a0001c0001t0169g0248 a0001c0007t0106g0024 a0001c0001t0169g0248 a0001c0007t0106g0024	2	370	0.0054	20	c.39 others(31): Show c.3924_*3925insCTCTCTATATATATATATAT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	13/13	3925	INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117526880	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0174 a0001c0001t0174	a0001c0001t0174g0239 a0001c0001t0174g0239	1	370	0.0027	20	c.39 others(31): Show c.3924_*3925insCTCTCTCTCTATATATATAT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	13/13	3925	INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117526880	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0153 a0001c0001t0153	a0001c0001t0153g0266 a0001c0001t0153g0266	1	370	0.0027	20	c.39 others(31): Show c.3924_*3925insCTCTCTCTCTCTCTCTATAT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	13/13	3925	INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN2A1_chr5_109684927_109874625	109708509	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp2 HG00639.hp2 others(9): Show HG00140.hp1 HG00597.hp2 HG00639.hp2 HG01071.hp1 HG02300.hp2 HG02451.hp2 HG04115.hp2 NA18945.hp1 NA18947.hp2 NA18998.hp1 NA19080.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0005t0008 a0001c0006t0002 others(3): Show a0001c0001t0001 a0001c0005t0008 a0001c0006t0002 a0002c0002t0002 a0002c0002t0011 a0002c0002t0024	a0001c0001t0001g0057 a0001c0005t0008g0010 a0001c0005t0008g0012 others(8): Show a0001c0001t0001g0057 a0001c0005t0008g0010 a0001c0005t0008g0012 a0001c0005t0008g0016 a0001c0006t0002g0278 a0002c0002t0002g0006 a0002c0002t0002g0221 a0002c0002t0002g0255 a0002c0002t0002g0265 a0002c0002t0011g0181 a0002c0002t0024g0233	12	296	0.0405	20	c.136 others(37): Show c.136-4993_136-4974dupCACACACACACACACACACA	MAN2A1	ENSG00000112893.10	transcript	ENST00000261483.5	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAN2A1_chr5_109684927_109874625	109842806	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0286 a0001c0006t0006g0286	1	296	0.0034	20	c.270 others(37): Show c.2700+362_2700+363insTTTTTTTTTTTTTTTTTTTT	MAN2A1	ENSG00000112893.10	transcript	ENST00000261483.5	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAN2C1_chr15_75350792_75373607	75353224	T T	TACACACA others(13): Show TACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	382	0.0026	20	c.26 others(31): Show c.2662_*2681dupGTGTGTGTGTGTGTGTGTGT	MAN2C1	ENSG00000140400.18	transcript	ENST00000267978.10	protein_coding		2567		chr15	TogoVar