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
UMODL1_chr21_42066317_42147996	42078185	TAGAAACC others(93): Show TAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA TAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA C	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG00735.hp1 others(9): Show HG00642.hp1 HG00733.hp2 HG00735.hp1 HG01109.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG02145.hp2 HG02896.hp1 HG03139.hp2 HG03490.hp1 HG03834.hp1	a0001 a0003 a0013 others(5): Show a0001 a0003 a0013 a0014 a0023 a0027 a0039 a0069	a0001c0001 a0003c0045 a0013c0029 others(5): Show a0001c0001 a0003c0045 a0013c0029 a0014c0009 a0023c0044 a0027c0039 a0039c0142 a0069c0190	a0001c0001t0004 a0003c0045t0001 a0013c0029t0001 others(5): Show a0001c0001t0004 a0003c0045t0001 a0013c0029t0001 a0014c0009t0008 a0023c0044t0011 a0027c0039t0018 a0039c0142t0011 a0069c0190t0006	a0001c0001t0004g0115 a0003c0045t0001g0117 a0013c0029t0001g0380 others(8): Show a0001c0001t0004g0115 a0003c0045t0001g0117 a0013c0029t0001g0380 a0013c0029t0001g0381 a0013c0029t0001g0382 a0014c0009t0008g0004 a0014c0009t0008g0118 a0023c0044t0011g0119 a0027c0039t0018g0122 a0039c0142t0011g0116 a0069c0190t0006g0058	12	386	0.0311	-100	c.319 others(117): Show c.319+1988_319+2087delTAGAAACCAGGCGGGGCCAGCTGACCCC AGAGCAACACCTCCATCACCAACAGAAACCAGGCGGGGCCAGCTGACCCC AGAGCAACACCTCCATCACCAA	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078247	GGGGCCAG others(93): Show GGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGGC GGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGGC C	G G	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18983.hp2 NA19056.hp1 others(1): Show NA18966.hp1 NA18983.hp2 NA19056.hp1 NA19074.hp2	a0001 a0052 a0001 a0052	a0001c0001 a0052c0038 a0001c0001 a0052c0038	a0001c0001t0003 a0052c0038t0014 a0001c0001t0003 a0052c0038t0014	a0001c0001t0003g0009 a0001c0001t0003g0294 a0052c0038t0014g0297 a0001c0001t0003g0009 a0001c0001t0003g0294 a0052c0038t0014g0297	4	397	0.0101	-100	c.319 others(117): Show c.319+2100_319+2199delCGGGCCAGCTGACCCCAGAGCAACACCT CCATCACCAACAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCT CCATCACCAACAGAAACCAGGC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078485	CAGAAGCC others(93): Show CAGAAGCCAGGTGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA CAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA T	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG00735.hp1 others(14): Show HG00642.hp1 HG00733.hp2 HG00735.hp1 HG01109.hp2 HG01261.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG02145.hp2 HG02896.hp1 HG03017.hp1 HG03139.hp2 HG03490.hp1 HG03834.hp1 HG04115.hp1 NA19057.hp2 NA20752.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0013 a0014 a0023 a0027 a0039 a0065	a0001c0001 a0002c0002 a0003c0045 others(7): Show a0001c0001 a0002c0002 a0003c0045 a0005c0013 a0013c0029 a0014c0009 a0023c0044 a0027c0039 a0039c0142 a0065c0172	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0004 a0003c0045t0001 a0005c0013t0001 a0013c0029t0001 a0014c0009t0008 a0023c0044t0011 a0027c0039t0018 a0039c0142t0011 a0065c0172t0004	a0001c0001t0001g0299 a0001c0001t0004g0113 a0001c0001t0004g0115 others(13): Show a0001c0001t0001g0299 a0001c0001t0004g0113 a0001c0001t0004g0115 a0002c0002t0001g0330 a0002c0002t0004g0329 a0003c0045t0001g0117 a0005c0013t0001g0227 a0013c0029t0001g0380 a0013c0029t0001g0381 a0013c0029t0001g0382 a0014c0009t0008g0004 a0014c0009t0008g0118 a0023c0044t0011g0119 a0027c0039t0018g0122 a0039c0142t0011g0116 a0065c0172t0004g0305	17	394	0.0431	-100	c.319 others(117): Show c.319+2243_319+2342delGCCAGGTGGGGCCAGCTGACCCCAGAGC AACACCTCCATCACCAACAGAAACCAGGCGGGGCCAGCTGACCCCAGAGC AACACCTCCATCACCAATAGAA	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078496	TGGGGCCA others(93): Show TGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGG CGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAATAGAAACCAGG C	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03579.hp1 NA19043.hp2 HG01167.hp1 HG03579.hp1 NA19043.hp2	a0011 a0023 a0064 a0011 a0023 a0064	a0011c0010 a0023c0099 a0064c0191 a0011c0010 a0023c0099 a0064c0191	a0011c0010t0001 a0023c0099t0001 a0064c0191t0001 a0011c0010t0001 a0023c0099t0001 a0064c0191t0001	a0011c0010t0001g0075 a0023c0099t0001g0221 a0064c0191t0001g0077 a0011c0010t0001g0075 a0023c0099t0001g0221 a0064c0191t0001g0077	3	323	0.0093	-100	c.319 others(117): Show c.319+2338_319+2437delTAGAAACCAGGCGGGGCCAGCTGACCCC AGAGCAACACCTCCATCACCAACAGAAACCAGGCGGGGCCAGCTGACCCC AGAGCAACACCTCCATCACCAA	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078585	TAGAAACC others(93): Show TAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA CAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA C	T T	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0033 a0033	a0033c0061 a0033c0061	a0033c0061t0002 a0033c0061t0002	a0033c0061t0002g0344 a0033c0061t0002g0344	1	345	0.0029	-100	c.319 others(117): Show c.319+2400_319+2499delGGGGCCAGCTGACCCCAGAGCAACACCT CCATCACCAACAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCT CCATCACCAACAGAAACCAGGC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UNC13B_chr9_35157009_35410335	35228468	TAATGCTA others(93): Show TAATGCTATCCCTCCCCCCGTCCCCCACCCCACGACAGGCCCCAGTGTGT AGTGGATAAATATTGAAATATCAGTGTATCATGTCTTGCAGTTCATGAAC C	T T	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0141 a0001c0001t0001g0066 a0001c0001t0001g0141	2	222	0.0090	-100	c.52+ others(113): Show c.52+425_52+524delAATGCTATCCCTCCCCCCGTCCCCCACCCCAC GACAGGCCCCAGTGTGTAGTGGATAAATATTGAAATATCAGTGTATCATG TCTTGCAGTTCATGAACC	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	2/39			chr9	TogoVar
UNC5A_chr5_176805559_176885898	176871702	CAACACCA others(93): Show CAACACCACAGCTTCACATCTGCCCACACCTGCCCCAACACCACAGCTTC CCATCTGCCCACACTCGCCCAACACCACAGCTTCACATCTGCCCACACTC A	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00558.hp2 others(143): Show HG00099.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02896.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp2 NA18943.hp1 NA18944.hp2 NA18954.hp1 NA18954.hp2 NA18963.hp2 NA18971.hp2 NA18977.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19074.hp2 NA19085.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0001c0009 others(1): Show a0001c0001 a0001c0007 a0001c0009 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0007t0001 a0001c0009t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(140): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0236 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0002g0200 a0001c0001t0002g0257 a0001c0001t0003g0009 a0001c0001t0003g0011 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0065 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0111 a0001c0001t0003g0244 a0001c0001t0003g0261 a0001c0001t0008g0046 a0001c0001t0009g0043 a0001c0001t0014g0061 a0001c0001t0015g0041 a0001c0001t0016g0161 a0001c0001t0017g0007 a0001c0007t0001g0138 a0001c0009t0001g0177 a0003c0003t0001g0082 a0003c0003t0001g0084	146	266	0.5489	-100	c.886 others(117): Show c.886+1169_886+1268delAACACCACAGCTTCACATCTGCCCACAC CTGCCCCAACACCACAGCTTCCCATCTGCCCACACTCGCCCAACACCACA GCTTCACATCTGCCCACACTCA	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14			chr5	TogoVar
UNC5B_chr10_71207570_71307864	71296739	AGAGGTGA others(93): Show AGAGGTGAGGGAAGTCGGGGCCACATATTCCAGCTGCACACCACACTGGC GGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCACGCTGGC G	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0004 a0001c0016t0004	a0001c0016t0004g0207 a0001c0016t0004g0207	1	359	0.0028	-100	c.249 others(116): Show c.2490+11_2490+110delTCGGGGCCACATATTCCAGCTGCACACCA CACTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCA CGCTGGCGGAGGTGAGGGAAG	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296762	CATATTCC others(93): Show CATATTCCAGCTGCACACCACACTGGCGGAGGTGAGGGAAGGGTGGGGCA GATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGTGGGGCA G	C C	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02647.hp2 HG02976.hp1 others(4): Show HG02523.hp2 HG02647.hp2 HG02976.hp1 HG03098.hp1 HG03516.hp1 NA19009.hp2 NA19074.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0003c0007 a0008c0035	a0001c0001t0016 a0001c0002t0002 a0001c0003t0037 others(3): Show a0001c0001t0016 a0001c0002t0002 a0001c0003t0037 a0003c0007t0010 a0003c0007t0012 a0008c0035t0012	a0001c0001t0016g0218 a0001c0002t0002g0248 a0001c0003t0037g0092 others(4): Show a0001c0001t0016g0218 a0001c0002t0002g0248 a0001c0003t0037g0092 a0003c0007t0010g0023 a0003c0007t0012g0066 a0003c0007t0012g0116 a0008c0035t0012g0196	7	347	0.0202	-100	c.249 others(116): Show c.2490+41_2490+140delACTGGCGGAGGTGAGGGAAGGGTGGGGCA GATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGTGGGGCA GATATTCCAGCTGCACACCAC	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296783	ACTGGCGG others(93): Show ACTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC GCTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC G	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02451.hp2 HG02630.hp1 others(9): Show HG00438.hp2 HG02451.hp2 HG02630.hp1 HG02895.hp1 HG02897.hp2 NA18952.hp2 NA18954.hp2 NA18966.hp1 NA18986.hp2 NA18999.hp2 NA19000.hp2 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005 a0002c0009	a0001c0001t0004 a0001c0001t0019 a0001c0002t0001 others(6): Show a0001c0001t0004 a0001c0001t0019 a0001c0002t0001 a0001c0002t0032 a0001c0002t0038 a0001c0003t0008 a0002c0005t0013 a0002c0005t0023 a0002c0009t0003	a0001c0001t0004g0155 a0001c0001t0019g0351 a0001c0002t0001g0204 others(8): Show a0001c0001t0004g0155 a0001c0001t0019g0351 a0001c0002t0001g0204 a0001c0002t0032g0004 a0001c0002t0038g0195 a0001c0003t0008g0048 a0001c0003t0008g0147 a0001c0003t0008g0154 a0002c0005t0013g0057 a0002c0005t0023g0348 a0002c0009t0003g0075	12	248	0.0484	-100	c.249 others(117): Show c.2490+113_2490+212delTGGGGCAGATATTCCAGCTGCACACCAC GCTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC GCTGGCGGAGGTGAGGGAAGGG	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
VAV1_chr19_6767708_6862361	6769640	GGGGAGGC others(93): Show GGGGAGGCTGAGGAAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCT GTGAGCAGATTAGCTGTGTGTGGTGGCATGCACCTGTAATCCCGGCTACT A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	304	0.0033	-100	c.-31 others(111): Show c.-3167_-3068delGGGAGGCTGAGGAAGGAGAATCACTTGAACCTGG GAGGCGGAGGTTGCTGTGAGCAGATTAGCTGTGTGTGGTGGCATGCACCT GTAATCCCGGCTACTA	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding		3067		chr19	TogoVar
VAX2_chr2_70895576_70938446	70937030	TGCTCACT others(93): Show TGCTCACTGGAGTAAACCAGCATGGCCCGCCACAGCTATGCAAAGCCAGA GGCTCACTGGAGTAAACCAGCATGGCCCGCCACAGCTATGCAGAGCCAGA G	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02572.hp1 HG02738.hp1 others(7): Show HG02071.hp1 HG02572.hp1 HG02738.hp1 NA18956.hp1 NA18963.hp1 NA18967.hp1 NA18977.hp1 NA18991.hp2 NA19007.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0202 a0001c0001t0001g0230 a0001c0001t0002g0093 others(7): Show a0001c0001t0001g0202 a0001c0001t0001g0230 a0001c0001t0002g0093 a0001c0001t0002g0105 a0001c0001t0002g0133 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0212	10	421	0.0238	-100	c.38 others(111): Show c.3827_*3926delGCTCACTGGAGTAAACCAGCATGGCCCGCCACAG CTATGCAAAGCCAGAGGCTCACTGGAGTAAACCAGCATGGCCCGCCACAG CTATGCAGAGCCAGAG	VAX2	ENSG00000116035.4	transcript	ENST00000234392.3	protein_coding		3585		chr2	TogoVar
WDR90_chr16_644365_672830	665214	ACCTCAGT others(93): Show ACCTCAGTCTGCAGCCTGCTAGGGACGCACGGCCACACTCCTGTCTTTCA GCCTCAGTCTGCAGCCTGCTAGGGACGCACGGCCACACTCCTGTCTTTCA G	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02055.hp2 HG02145.hp2 others(8): Show HG00639.hp1 HG02055.hp2 HG02145.hp2 HG02257.hp2 HG02818.hp2 HG02886.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG06807.hp1 NA19030.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0005 a0002c0005t0001 a0002c0005t0005	a0002c0005t0001g0255 a0002c0005t0001g0256 a0002c0005t0001g0257 others(8): Show a0002c0005t0001g0255 a0002c0005t0001g0256 a0002c0005t0001g0257 a0002c0005t0001g0258 a0002c0005t0001g0259 a0002c0005t0001g0260 a0002c0005t0001g0261 a0002c0005t0001g0262 a0002c0005t0001g0263 a0002c0005t0001g0264 a0002c0005t0005g0265	11	75	0.1467	-100	c.431 others(117): Show c.4312-404_4312-305delCAGCCTGCTAGGGACGCACGGCCACACT CCTGTCTTTCAGCCTCAGTCTGCAGCCTGCTAGGGACGCACGGCCACACT CCTGTCTTTCAGCCTCAGTCTG	WDR90	ENSG00000161996.19	transcript	ENST00000293879.9	protein_coding	34/40		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZFAND2A_chr7_1147907_1165196	1159716	AGCCGGAC others(93): Show AGCCGGACCCCCAACAGCCAGACCCCGGCAGGCCCGGTCCCCAGCAGACA GGCCGGACCCCCAGCAGCCAGACCCCGGCAGGCCCGGTCCCCAGCAGACA G	A A	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18985.hp2 NA18995.hp1 NA18955.hp2 NA18985.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	3	430	0.0070	-100	c.-46 others(115): Show c.-46+148_-46+247delCTGTCTGCTGGGGACCGGGCCTGCCGGGGT CTGGCTGCTGGGGGTCCGGCCTGTCTGCTGGGGACCGGGCCTGCCGGGGT CTGGCTGTTGGGGGTCCGGC	ZFAND2A	ENSG00000178381.12	transcript	ENST00000316495.8	protein_coding	1/4			chr7	TogoVar
ZFYVE28_chr4_2264597_2423645	2396128	GGGGTGTC others(93): Show GGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGACACAAGGT GGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCACAAGG C	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0073 a0001c0004t0002g0073	1	288	0.0035	-100	c.39+ others(117): Show c.39+22057_39+22156delGCCTTGTGGCCCCTCTGCAGGATGGCTG GTCCCATCAGCTCAGACACCCCCACCTTGTGTCCCCTCTGCAGGATGGCT GGTCCCATCAGCTCAGACACCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	1/12			chr4	TogoVar
ZMYND11_chr10_130455_259637	174509	CACTACAG others(93): Show CACTACAGTGGCACGTGCTTGTCATTCATACATTAGTCAAAACCCATGGG CATTACAGTGGCACATGCTTGTCATTCATACATTGGTCAAAACCCATGAG T	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	340	0.0029	-100	c.-19 others(117): Show c.-19-5421_-19-5322delATGCTTGTCATTCATACATTGGTCAAAA CCCATGAGTACTACAGTGGCACGTGCTTGTCATTCATACATTAGTCAAAA CCCATGGGCATTACAGTGGCAC	ZMYND11	ENSG00000015171.21	transcript	ENST00000381604.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
ZNF511_chr10_133303914_133318161	133317977	ACACCTCC others(93): Show ACACCTCCCCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCCCCAG ACACAGAGATGGAAAGACCACACCCCCCCCCAGACACAGAGATGGAAAGA C	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 NA19004.hp1 HG02071.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0004g0001 a0001c0001t0001g0001 a0001c0001t0004g0001	2	279	0.0072	-100	c.51 others(111): Show c.5112_*5211delCACCTCCCCCCCAGACACAGAGATGGAAAGACCA CACCCCCCCCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCCAGAC ACAGAGATGGAAAGAC	ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding		4817		chr10	TogoVar
ZNF605_chr12_132913306_132961306	132939804	TGAGCTGT others(93): Show TGAGCTGTAACACTCACCGCGAAGATCTGCAGCTTCACTCCTGAGCCAGC GAGACCACGAGCCCACCGGGAGGAACGAACACTCCAGACGCACTACCTTA A	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0021 a0001c0001t0031g0021	1	124	0.0081	-100	c.15+ others(115): Show c.15+5717_15+5816delTTAAGGTAGTGCGTCTGGAGTGTTCGTTCC TCCCGGTGGGCTCGTGGTCTCGCTGGCTCAGGAGTGAAGCTGCAGATCTT CGCGGTGAGTGTTACAGCTC	ZNF605	ENSG00000196458.11	transcript	ENST00000360187.9	protein_coding	3/4			chr12	TogoVar
ZNF609_chr15_64455578_64691068	64577358	CATATATG others(93): Show CATATATGTATATATATACACATATAAATATATACACATATATGTATATA TATACACATATAAATATATACACATATATGTATATATATACACATATAAA T	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0025 a0001c0003t0001g0025	1	142	0.0070	-100	c.748 others(119): Show c.748-45463_748-45364delTGTATATATATACACATATAAATATA TACACATATATGTATATATATACACATATAAATATATACACATATATGTA TATATATACACATATAAATATATA	ZNF609	ENSG00000180357.10	transcript	ENST00000326648.5	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
ZXDC_chr3_126432601_126480891	126476105	AGGGCGGG others(93): Show AGGGCGGGGCGCGGGGTCGGGGGGCGGGGCGCGGGGTCGGGGGGCGGGGC GCGGGGTCGGGGGGCGGGGCGCGGGGTCGGGGGGCGGGGCGCGGGGTCGG G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00741.hp2 others(6): Show HG00099.hp2 HG00639.hp1 HG00741.hp2 HG01099.hp1 HG01243.hp2 HG01361.hp2 HG02738.hp1 HG03688.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0050 a0001c0001t0001g0146 a0001c0001t0001g0148 others(4): Show a0001c0001t0001g0050 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0002g0051	9	46	0.1957	-100	c.-34 others(109): Show c.-340_-241delCCCGACCCCGCGCCCCGCCCCCCGACCCCGCGCCCC GCCCCCCGACCCCGCGCCCCGCCCCCCGACCCCGCGCCCCGCCCCCCGAC CCCGCGCCCCGCCC	ZXDC	ENSG00000070476.15	transcript	ENST00000389709.8	protein_coding		215		chr3	TogoVar

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