Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
UIMC1_chr5_176900006_177011779	176994725	G G	GCGGTGGG others(7): Show GCGGTGGGAATGTGA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG04228.hp2 HG02698.hp1 HG04228.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0327 a0003c0004t0004g0328 a0003c0004t0004g0327 a0003c0004t0004g0328	2	328	0.0061	14	c.-9+ others(31): Show c.-9+11911_-9+11924dupTCACATTCCCACCG	UIMC1	ENSG00000087206.17	transcript	ENST00000511320.6	protein_coding	1/14			chr5	TogoVar
ULK1_chr12_131889622_131928150	131917298	G G	GGGCTCGG others(7): Show GGGCTCGGAGGCTGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp2 HG02486.hp1 others(1): Show HG02145.hp1 HG02451.hp2 HG02486.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0059 a0001c0002t0001g0002 a0001c0002t0001g0059	4	342	0.0117	14	c.218 others(31): Show c.2183-111_2183-110insCTCGGAGGCTGTGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK2_chr17_19765830_19872936	19770605	C C	CGCAGCCT others(7): Show CGCAGCCTCAGCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(227): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01192.hp1 HG01192.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18991.hp1 NA18999.hp2 NA19002.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008	a0001c0001 a0001c0003 a0001c0004 others(11): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0011 a0001c0016 a0002c0002 a0002c0009 a0003c0007 a0005c0010 a0006c0013 a0007c0012 a0008c0015	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(43): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0049 a0001c0003t0003 a0001c0003t0008 a0001c0003t0028 a0001c0003t0030 a0001c0003t0046 a0001c0003t0050 a0001c0004t0004 a0001c0004t0011 a0001c0005t0006 a0001c0005t0019 a0001c0006t0005 a0001c0011t0045 a0001c0016t0001 a0002c0002t0020 a0002c0009t0047 a0002c0009t0051 a0003c0007t0010 a0005c0010t0001 a0006c0013t0001 a0007c0012t0048 a0008c0015t0001	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0081 others(227): Show a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0007g0153 a0001c0001t0007g0155 a0001c0001t0007g0156 a0001c0001t0007g0157 a0001c0001t0007g0184 a0001c0001t0009g0083 a0001c0001t0009g0084 a0001c0001t0009g0096 a0001c0001t0009g0120 a0001c0001t0013g0002 a0001c0001t0013g0003 a0001c0001t0014g0138 a0001c0001t0014g0209 a0001c0001t0015g0064 a0001c0001t0015g0226 a0001c0001t0016g0061 a0001c0001t0016g0062 a0001c0001t0017g0086 a0001c0001t0017g0125 a0001c0001t0018g0122 a0001c0001t0018g0205 a0001c0001t0022g0004 a0001c0001t0023g0017 a0001c0001t0024g0018 a0001c0001t0032g0177 a0001c0001t0033g0097 a0001c0001t0034g0087 a0001c0001t0035g0233 a0001c0001t0036g0128 a0001c0001t0038g0151 a0001c0001t0039g0195 a0001c0001t0040g0152 a0001c0001t0041g0140 a0001c0001t0042g0144 a0001c0001t0043g0111 a0001c0001t0044g0123 a0001c0001t0049g0080 a0001c0003t0003g0019 a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0022 a0001c0003t0003g0024 a0001c0003t0003g0025 a0001c0003t0003g0026 a0001c0003t0003g0027 a0001c0003t0003g0028 a0001c0003t0003g0029 a0001c0003t0003g0030 a0001c0003t0003g0031 a0001c0003t0003g0032 a0001c0003t0003g0033 a0001c0003t0003g0034 a0001c0003t0003g0035 a0001c0003t0003g0036 a0001c0003t0003g0037 a0001c0003t0003g0038 a0001c0003t0003g0039 a0001c0003t0003g0040 a0001c0003t0008g0043 a0001c0003t0008g0044 a0001c0003t0008g0045 a0001c0003t0008g0046 a0001c0003t0028g0023 a0001c0003t0030g0049 a0001c0003t0046g0065 a0001c0003t0050g0063 a0001c0004t0004g0005 a0001c0004t0004g0006 a0001c0004t0004g0007 a0001c0004t0004g0008 a0001c0004t0004g0009 a0001c0004t0004g0010 a0001c0004t0004g0011 a0001c0004t0004g0012 a0001c0004t0004g0013 a0001c0004t0011g0014 a0001c0004t0011g0015 a0001c0004t0011g0016 a0001c0005t0006g0072 a0001c0005t0006g0073 a0001c0005t0006g0074 a0001c0005t0006g0075 a0001c0005t0006g0076 a0001c0005t0006g0077 a0001c0005t0006g0078 a0001c0005t0019g0079 a0001c0005t0019g0234 a0001c0006t0005g0054 a0001c0006t0005g0055 a0001c0006t0005g0056 a0001c0006t0005g0057 a0001c0006t0005g0058 a0001c0006t0005g0059 a0001c0006t0005g0060 a0001c0011t0045g0052 a0001c0016t0001g0208 a0002c0002t0020g0237 a0002c0002t0020g0238 a0002c0009t0047g0051 a0002c0009t0051g0050 a0003c0007t0010g0068 a0003c0007t0010g0069 a0003c0007t0010g0070 a0003c0007t0010g0071 a0005c0010t0001g0085 a0005c0010t0001g0203 a0006c0013t0001g0192 a0007c0012t0048g0053 a0008c0015t0001g0221	230	286	0.8042	14	c.57 others(25): Show c.5743_*5744insCCTGCTGAGGCTGC	ULK2	ENSG00000083290.20	transcript	ENST00000395544.9	protein_coding		224		chr17	TogoVar
ULK2_chr17_19765830_19872936	19814452	T T	TGTTGTTG others(7): Show TGTTGTTGTTGTTTG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0080 a0001c0001t0049g0080	1	226	0.0044	14	c.109 others(33): Show c.1096+2296_1096+2297insCAAACAACAACAAC	ULK2	ENSG00000083290.20	transcript	ENST00000395544.9	protein_coding	13/26			chr17	TogoVar
ULK2_chr17_19765830_19872936	19814456	T T	TTGTTTGT others(7): Show TTGTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA19055.hp1 HG02717.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0035 a0001c0001t0007 a0001c0001t0035	a0001c0001t0007g0157 a0001c0001t0035g0233 a0001c0001t0007g0157 a0001c0001t0035g0233	2	110	0.0182	14	c.109 others(33): Show c.1096+2292_1096+2293insCAAACAAACAAACA	ULK2	ENSG00000083290.20	transcript	ENST00000395544.9	protein_coding	13/26			chr17	TogoVar
ULK2_chr17_19765830_19872936	19814456	T T	TTTTTTGT others(7): Show TTTTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02056.hp1 HG03834.hp1 others(2): Show HG00544.hp2 HG02056.hp1 HG03834.hp1 NA18944.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0022	a0001c0001t0001g0100 a0001c0001t0001g0137 a0001c0001t0007g0155 others(2): Show a0001c0001t0001g0100 a0001c0001t0001g0137 a0001c0001t0007g0155 a0001c0001t0009g0084 a0001c0001t0022g0004	5	113	0.0442	14	c.109 others(33): Show c.1096+2292_1096+2293insCAAACAAACAAAAA	ULK2	ENSG00000083290.20	transcript	ENST00000395544.9	protein_coding	13/26			chr17	TogoVar
ULK2_chr17_19765830_19872936	19866464	C C	CGCCACGG others(7): Show CGCCACGGCACTCCA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0047 a0002c0009t0047	a0002c0009t0047g0051 a0002c0009t0047g0051	1	286	0.0035	14	c.91- others(27): Show c.91-650_91-637dupTGGAGTGCCGTGGC	ULK2	ENSG00000083290.20	transcript	ENST00000395544.9	protein_coding	1/26			chr17	TogoVar
ULK2_chr17_19765830_19872936	19871432	G G	GCACACAC others(7): Show GCACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0267 a0002c0002t0002g0267	1	73	0.0137	14	c.-40 others(25): Show c.-4016_-4015insTGTGTGTGTGTGTG	ULK2	ENSG00000083290.20	transcript	ENST00000395544.9	protein_coding		3497		chr17	TogoVar
ULK4_chr3_41241599_41967103	41255129	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02976.hp1 HG04115.hp2 HG01891.hp2 HG02976.hp1 HG04115.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0010 a0001c0001 a0008c0010	a0001c0001t0001 a0008c0010t0002 a0001c0001t0001 a0008c0010t0002	a0001c0001t0001g0047 a0001c0001t0001g0055 a0008c0010t0002g0056 a0001c0001t0001g0047 a0001c0001t0001g0055 a0008c0010t0002g0056	3	31	0.0968	14	c.367 others(33): Show c.3679-5569_3679-5556dupGTGTGTGTGTGTGT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	35/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41326451	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0002 a0008c0010t0002	a0008c0010t0002g0056 a0008c0010t0002g0056	1	52	0.0192	14	c.367 others(35): Show c.3678+71614_3678+71627dupATATATATATATAT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	35/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41420475	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	10	0.1000	14	c.349 others(35): Show c.3493-22225_3493-22212dupAAAAAAAAAAAAAA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	34/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41431547	C C	CATTTTTT others(7): Show CATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0019 a0019	a0019c0017 a0019c0017	a0019c0017t0001 a0019c0017t0001	a0019c0017t0001g0022 a0019c0017t0001g0022	1	27	0.0370	14	c.349 others(35): Show c.3492+23949_3492+23950insAAAAAAAAAAAAAT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	34/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41431547	C C	CCTTTTTT others(7): Show CCTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0023 a0006c0007t0001g0023	1	27	0.0370	14	c.349 others(35): Show c.3492+23949_3492+23950insAAAAAAAAAAAAAG	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	34/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41444361	T T	TTCTCTCT others(7): Show TTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02818.hp2 HG02895.hp2 others(4): Show HG01891.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG03209.hp2 HG03486.hp1 NA19043.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0010 a0016 a0021	a0001c0001 a0003c0016 a0004c0002 others(3): Show a0001c0001 a0003c0016 a0004c0002 a0010c0011 a0016c0015 a0021c0019	a0001c0001t0003 a0003c0016t0001 a0004c0002t0002 others(3): Show a0001c0001t0003 a0003c0016t0001 a0004c0002t0002 a0010c0011t0002 a0016c0015t0001 a0021c0019t0003	a0001c0001t0003g0069 a0003c0016t0001g0057 a0004c0002t0002g0007 others(4): Show a0001c0001t0003g0069 a0003c0016t0001g0057 a0004c0002t0002g0007 a0010c0011t0002g0010 a0010c0011t0002g0011 a0016c0015t0001g0005 a0021c0019t0003g0071	7	31	0.2258	14	c.349 others(35): Show c.3492+11122_3492+11135dupGAGAGAGAGAGAGA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	34/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41469602	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01891.hp2 HG02145.hp2 others(5): Show HG01081.hp2 HG01891.hp2 HG02145.hp2 HG02165.hp1 HG02622.hp1 HG02970.hp1 HG02976.hp2 HG03453.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0002c0009 a0006c0007 others(1): Show a0001c0001 a0002c0009 a0006c0007 a0007c0005	a0001c0001t0001 a0002c0009t0002 a0006c0007t0001 others(1): Show a0001c0001t0001 a0002c0009t0002 a0006c0007t0001 a0007c0005t0001	a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0049 others(5): Show a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0055 a0002c0009t0002g0018 a0006c0007t0001g0023 a0007c0005t0001g0064	8	33	0.2424	14	c.322 others(33): Show c.3227-6363_3227-6350dupTTTTTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41469616	A A	AAAAAAAA others(7): Show AAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0002 a0009c0008t0002	a0009c0008t0002g0020 a0009c0008t0002g0020	1	70	0.0143	14	c.322 others(33): Show c.3227-6364_3227-6363insGTTTTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41484458	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp1 HG03453.hp1 HG02145.hp1 HG02451.hp1 HG03453.hp1	a0002 a0005 a0008 a0002 a0005 a0008	a0002c0009 a0005c0013 a0008c0010 a0002c0009 a0005c0013 a0008c0010	a0002c0009t0002 a0005c0013t0002 a0008c0010t0002 a0002c0009t0002 a0005c0013t0002 a0008c0010t0002	a0002c0009t0002g0018 a0005c0013t0002g0016 a0008c0010t0002g0004 a0002c0009t0002g0018 a0005c0013t0002g0016 a0008c0010t0002g0004	3	42	0.0714	14	c.322 others(35): Show c.3227-21206_3227-21205insAAAAAAAAAAAAAA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41506764	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0062 a0003c0003t0001g0062	1	55	0.0182	14	c.322 others(35): Show c.3227-43512_3227-43511insTTTTTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41506767	A A	AAAAAAAA others(7): Show AAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0012 a0002c0009t0002g0012	1	21	0.0476	14	c.322 others(35): Show c.3227-43515_3227-43514insATATTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41506767	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	21	0.0476	14	c.322 others(35): Show c.3227-43528_3227-43515dupATATATATATATAT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41657818	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02895.hp1 HG02258.hp2 HG02895.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0008 a0001c0001 a0009c0008	a0001c0001t0001 a0009c0008t0002 a0001c0001t0001 a0009c0008t0002	a0001c0001t0001g0026 a0009c0008t0002g0020 a0001c0001t0001g0026 a0009c0008t0002g0020	2	9	0.2222	14	c.307 others(33): Show c.3071+5775_3071+5788dupTTTTTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	30/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41657818	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0001 a0007c0005t0001	a0007c0005t0001g0066 a0007c0005t0001g0066	1	8	0.1250	14	c.307 others(33): Show c.3071+5788_3071+5789insGTTTTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	30/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41658735	A A	ACACACAC others(7): Show ACACACACACACTCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02257.hp1 HG02258.hp2 others(5): Show HG01243.hp2 HG02257.hp1 HG02258.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG03540.hp1 NA19043.hp2	a0004 a0009 a0010 a0004 a0009 a0010	a0004c0002 a0009c0008 a0010c0011 a0004c0002 a0009c0008 a0010c0011	a0004c0002t0001 a0004c0002t0002 a0009c0008t0002 others(1): Show a0004c0002t0001 a0004c0002t0002 a0009c0008t0002 a0010c0011t0002	a0004c0002t0001g0006 a0004c0002t0002g0007 a0004c0002t0002g0008 others(5): Show a0004c0002t0001g0006 a0004c0002t0002g0007 a0004c0002t0002g0008 a0004c0002t0002g0009 a0009c0008t0002g0020 a0009c0008t0002g0021 a0010c0011t0002g0010 a0010c0011t0002g0011	8	69	0.1159	14	c.307 others(33): Show c.3071+4871_3071+4872insAGAGTGTGTGTGTG	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	30/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41714852	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0016 a0016	a0016c0015 a0016c0015	a0016c0015t0001 a0016c0015t0001	a0016c0015t0001g0005 a0016c0015t0001g0005	1	37	0.0270	14	c.263 others(31): Show c.2634+384_2634+385insTTTTTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	25/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41794686	A A	AAAAAAAA others(7): Show AAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG06807.hp1 HG03453.hp1 HG06807.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0012 a0002c0009t0002g0018 a0002c0009t0002g0012 a0002c0009t0002g0018	2	64	0.0313	14	c.201 others(33): Show c.2011-4844_2011-4843insGTTTTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	20/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41869358	T T	TGAGGCCA others(7): Show TGAGGCCAGGAGTTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0016 a0016	a0016c0015 a0016c0015	a0016c0015t0001 a0016c0015t0001	a0016c0015t0001g0005 a0016c0015t0001g0005	1	70	0.0143	14	c.165 others(35): Show c.1656+14502_1656+14515dupGAACTCCTGGCCTC	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	17/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41953285	C C	CACATATA others(7): Show CACATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	33	0.0303	14	c.138 others(31): Show c.138+1336_138+1337insATATATATATATGT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	2/36			chr3	TogoVar
UMAD1_chr7_7635752_7884223	7693293	C C	CTATCTAT others(7): Show CTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp2 HG03491.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0018 a0001c0001t0010 a0001c0001t0018	a0001c0001t0010g0100 a0001c0001t0018g0090 a0001c0001t0010g0100 a0001c0001t0018g0090	2	248	0.0081	14	c.82+ others(31): Show c.82+19841_82+19842insATCTATCTATCTAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7761363	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp2 HG01928.hp1 others(14): Show HG01361.hp1 HG01361.hp2 HG01928.hp1 HG02109.hp1 HG02622.hp2 HG02630.hp1 HG02886.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0014 others(13): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0014 a0001c0001t0016 a0001c0001t0028 a0001c0001t0035 a0001c0001t0037 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0047 a0001c0001t0075 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080	a0001c0001t0002g0039 a0001c0001t0008g0154 a0001c0001t0014g0017 others(14): Show a0001c0001t0002g0039 a0001c0001t0008g0154 a0001c0001t0014g0017 a0001c0001t0016g0125 a0001c0001t0028g0178 a0001c0001t0035g0228 a0001c0001t0037g0220 a0001c0001t0037g0229 a0001c0001t0040g0224 a0001c0001t0042g0152 a0001c0001t0043g0144 a0001c0001t0044g0121 a0001c0001t0047g0183 a0001c0001t0075g0016 a0001c0001t0078g0149 a0001c0001t0079g0150 a0001c0001t0080g0147	17	156	0.1090	14	c.83- others(31): Show c.83-40295_83-40294insAAAAAAAAAAAAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7777574	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18999.hp1 HG02886.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0084 a0001c0001t0001 a0001c0001t0084	a0001c0001t0001g0050 a0001c0001t0084g0188 a0001c0001t0001g0050 a0001c0001t0084g0188	2	71	0.0282	14	c.83- others(31): Show c.83-24081_83-24068dupATATATATATATAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7796244	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0205 a0001c0001t0003g0205	1	26	0.0385	14	c.83- others(29): Show c.83-5415_83-5402dupTTTTTTTTTTTTTT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7827137	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0147 a0001c0001t0080g0147	1	151	0.0066	14	c.156 others(33): Show c.156+25395_156+25396insGTGTGTGTGTGTGT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7827177	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp2 HG02451.hp2 others(1): Show HG01884.hp2 HG02145.hp2 HG02451.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0036 others(1): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0036 a0001c0001t0039	a0001c0001t0001g0114 a0001c0001t0014g0219 a0001c0001t0036g0163 others(1): Show a0001c0001t0001g0114 a0001c0001t0014g0219 a0001c0001t0036g0163 a0001c0001t0039g0160	4	227	0.0176	14	c.156 others(33): Show c.156+25435_156+25436insGTGTGTGTGTGTAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7869237	A A	AGTCAAGA others(7): Show AGTCAAGAAGCTGAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00438.hp1 others(170): Show HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp2 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03834.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18949.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18968.hp1 NA18968.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19063.hp1 NA19063.hp2 NA19076.hp1 NA19076.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(70): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0060 a0001c0001t0061 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0072 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0080 a0001c0001t0082 a0001c0001t0084 a0001c0002t0002 a0001c0002t0063 a0001c0004t0039 a0001c0004t0041 a0002c0003t0081 a0003c0005t0002	a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0002g0015 others(169): Show a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0002g0015 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0039 a0001c0001t0002g0046 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0109 a0001c0001t0002g0116 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0004g0012 a0001c0001t0004g0075 a0001c0001t0004g0099 a0001c0001t0004g0101 a0001c0001t0004g0129 a0001c0001t0004g0142 a0001c0001t0004g0169 a0001c0001t0004g0171 a0001c0001t0004g0173 a0001c0001t0005g0008 a0001c0001t0005g0011 a0001c0001t0005g0024 a0001c0001t0005g0036 a0001c0001t0005g0038 a0001c0001t0005g0048 a0001c0001t0005g0052 a0001c0001t0005g0077 a0001c0001t0007g0034 a0001c0001t0007g0037 a0001c0001t0007g0041 a0001c0001t0007g0059 a0001c0001t0007g0071 a0001c0001t0007g0105 a0001c0001t0007g0195 a0001c0001t0007g0222 a0001c0001t0008g0054 a0001c0001t0008g0153 a0001c0001t0008g0161 a0001c0001t0010g0092 a0001c0001t0010g0097 a0001c0001t0010g0100 a0001c0001t0010g0138 a0001c0001t0010g0168 a0001c0001t0011g0023 a0001c0001t0011g0044 a0001c0001t0011g0045 a0001c0001t0011g0065 a0001c0001t0011g0189 a0001c0001t0012g0057 a0001c0001t0012g0080 a0001c0001t0012g0087 a0001c0001t0012g0108 a0001c0001t0012g0197 a0001c0001t0013g0049 a0001c0001t0013g0084 a0001c0001t0013g0104 a0001c0001t0013g0127 a0001c0001t0014g0003 a0001c0001t0014g0009 a0001c0001t0014g0017 a0001c0001t0014g0110 a0001c0001t0014g0219 a0001c0001t0015g0111 a0001c0001t0015g0140 a0001c0001t0016g0125 a0001c0001t0016g0145 a0001c0001t0016g0146 a0001c0001t0016g0148 a0001c0001t0017g0133 a0001c0001t0017g0202 a0001c0001t0017g0247 a0001c0001t0018g0090 a0001c0001t0018g0106 a0001c0001t0018g0181 a0001c0001t0018g0198 a0001c0001t0019g0078 a0001c0001t0019g0081 a0001c0001t0019g0119 a0001c0001t0019g0192 a0001c0001t0020g0028 a0001c0001t0020g0030 a0001c0001t0020g0151 a0001c0001t0021g0006 a0001c0001t0021g0027 a0001c0001t0021g0042 a0001c0001t0023g0203 a0001c0001t0023g0245 a0001c0001t0023g0249 a0001c0001t0024g0040 a0001c0001t0024g0141 a0001c0001t0024g0236 a0001c0001t0025g0001 a0001c0001t0025g0095 a0001c0001t0026g0056 a0001c0001t0026g0191 a0001c0001t0026g0230 a0001c0001t0027g0221 a0001c0001t0027g0232 a0001c0001t0027g0234 a0001c0001t0028g0014 a0001c0001t0028g0019 a0001c0001t0028g0178 a0001c0001t0029g0215 a0001c0001t0029g0217 a0001c0001t0029g0226 a0001c0001t0030g0243 a0001c0001t0030g0248 a0001c0001t0031g0209 a0001c0001t0031g0246 a0001c0001t0032g0020 a0001c0001t0032g0112 a0001c0001t0033g0088 a0001c0001t0033g0204 a0001c0001t0034g0164 a0001c0001t0034g0179 a0001c0001t0035g0156 a0001c0001t0035g0228 a0001c0001t0036g0163 a0001c0001t0036g0231 a0001c0001t0038g0089 a0001c0001t0038g0199 a0001c0001t0039g0160 a0001c0001t0041g0235 a0001c0001t0042g0162 a0001c0001t0043g0143 a0001c0001t0043g0144 a0001c0001t0044g0121 a0001c0001t0045g0212 a0001c0001t0046g0135 a0001c0001t0047g0183 a0001c0001t0049g0013 a0001c0001t0050g0136 a0001c0001t0051g0128 a0001c0001t0052g0134 a0001c0001t0053g0021 a0001c0001t0054g0233 a0001c0001t0055g0237 a0001c0001t0056g0064 a0001c0001t0057g0122 a0001c0001t0058g0165 a0001c0001t0060g0213 a0001c0001t0061g0158 a0001c0001t0064g0190 a0001c0001t0065g0214 a0001c0001t0066g0115 a0001c0001t0067g0227 a0001c0001t0068g0139 a0001c0001t0069g0051 a0001c0001t0070g0074 a0001c0001t0072g0026 a0001c0001t0076g0218 a0001c0001t0077g0180 a0001c0001t0078g0149 a0001c0001t0080g0147 a0001c0001t0082g0068 a0001c0001t0084g0188 a0001c0002t0002g0007 a0001c0002t0063g0155 a0001c0004t0039g0159 a0001c0004t0041g0210 a0002c0003t0081g0072 a0003c0005t0002g0079	173	248	0.6976	14	c.157 others(31): Show c.157-8042_157-8041insCAAGAAGCTGATGT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMODL1_chr21_42066317_42147996	42069229	A A	AACACACA others(7): Show AACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00735.hp1 HG01106.hp1 others(34): Show HG00280.hp1 HG00735.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01346.hp1 HG01361.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG02083.hp1 HG02109.hp1 HG02165.hp2 HG02273.hp2 HG02559.hp1 HG02735.hp1 HG02896.hp1 HG03492.hp1 HG03704.hp2 HG03927.hp2 NA18940.hp2 NA18941.hp1 NA18945.hp1 NA18967.hp2 NA18969.hp1 NA18974.hp1 NA18982.hp1 NA18992.hp1 NA19012.hp1 NA19066.hp1 NA19081.hp2 NA19086.hp1 NA19090.hp1 NA20805.hp2	a0001 a0002 a0003 others(20): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0012 a0014 a0016 a0018 a0019 a0022 a0024 a0027 a0033 a0039 a0041 a0043 a0054 a0067 a0108	a0001c0001 a0001c0008 a0002c0005 others(24): Show a0001c0001 a0001c0008 a0002c0005 a0002c0015 a0003c0004 a0004c0007 a0005c0019 a0006c0003 a0007c0006 a0008c0012 a0012c0036 a0012c0180 a0014c0009 a0016c0032 a0016c0125 a0018c0184 a0019c0014 a0022c0022 a0024c0062 a0027c0039 a0033c0116 a0039c0142 a0041c0136 a0043c0042 a0054c0139 a0067c0122 a0108c0124	a0001c0001t0001 a0001c0001t0007 a0001c0008t0001 others(26): Show a0001c0001t0001 a0001c0001t0007 a0001c0008t0001 a0001c0008t0006 a0002c0005t0001 a0002c0015t0001 a0003c0004t0028 a0004c0007t0002 a0005c0019t0001 a0006c0003t0002 a0007c0006t0016 a0008c0012t0001 a0012c0036t0001 a0012c0180t0001 a0014c0009t0008 a0016c0032t0005 a0016c0125t0005 a0018c0184t0003 a0019c0014t0003 a0022c0022t0001 a0024c0062t0004 a0027c0039t0018 a0033c0116t0002 a0039c0142t0011 a0041c0136t0001 a0043c0042t0004 a0054c0139t0001 a0067c0122t0004 a0108c0124t0002	a0001c0001t0001g0209 a0001c0001t0007g0163 a0001c0008t0001g0279 others(34): Show a0001c0001t0001g0209 a0001c0001t0007g0163 a0001c0008t0001g0279 a0001c0008t0006g0192 a0002c0005t0001g0126 a0002c0005t0001g0166 a0002c0015t0001g0129 a0003c0004t0028g0038 a0004c0007t0002g0164 a0004c0007t0002g0168 a0005c0019t0001g0268 a0006c0003t0002g0094 a0006c0003t0002g0099 a0007c0006t0016g0167 a0008c0012t0001g0046 a0012c0036t0001g0183 a0012c0180t0001g0184 a0014c0009t0008g0004 a0014c0009t0008g0144 a0014c0009t0008g0146 a0016c0032t0005g0088 a0016c0032t0005g0089 a0016c0125t0005g0085 a0018c0184t0003g0172 a0019c0014t0003g0182 a0022c0022t0001g0193 a0022c0022t0001g0194 a0022c0022t0001g0195 a0024c0062t0004g0124 a0027c0039t0018g0122 a0033c0116t0002g0109 a0039c0142t0011g0116 a0041c0136t0001g0030 a0043c0042t0004g0097 a0054c0139t0001g0079 a0067c0122t0004g0135 a0108c0124t0002g0206	37	127	0.2913	14	c.-20 others(25): Show c.-2088_-2087insACACACACACACAC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding		2087		chr21	TogoVar
UMODL1_chr21_42066317_42147996	42095089	G G	GGTTTTTT others(7): Show GGTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp2 HG00642.hp1 others(33): Show HG00408.hp2 HG00609.hp2 HG00642.hp1 HG00733.hp2 HG01515.hp1 HG01517.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01993.hp2 HG02015.hp2 HG02056.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02300.hp1 HG02683.hp1 HG02735.hp1 HG03490.hp2 HG03492.hp1 HG03654.hp2 HG03834.hp1 NA18944.hp2 NA18952.hp1 NA18962.hp1 NA18971.hp1 NA18980.hp1 NA18983.hp1 NA18997.hp1 NA18997.hp2 NA18999.hp2 NA19064.hp2 NA19082.hp2 NA19086.hp2 NA19090.hp2 NA20805.hp2	a0003 a0006 a0008 others(12): Show a0003 a0006 a0008 a0009 a0014 a0023 a0034 a0036 a0037 a0043 a0058 a0084 a0096 a0109 a0112	a0003c0004 a0003c0045 a0006c0003 others(13): Show a0003c0004 a0003c0045 a0006c0003 a0008c0012 a0009c0017 a0014c0009 a0023c0044 a0034c0052 a0036c0091 a0037c0047 a0043c0042 a0058c0090 a0084c0096 a0096c0097 a0109c0092 a0112c0088	a0003c0004t0001 a0003c0004t0007 a0003c0045t0001 others(14): Show a0003c0004t0001 a0003c0004t0007 a0003c0045t0001 a0006c0003t0002 a0008c0012t0001 a0009c0017t0003 a0014c0009t0008 a0023c0044t0011 a0034c0052t0002 a0036c0091t0002 a0037c0047t0002 a0043c0042t0004 a0058c0090t0001 a0084c0096t0001 a0096c0097t0002 a0109c0092t0001 a0112c0088t0002	a0003c0004t0001g0261 a0003c0004t0001g0337 a0003c0004t0001g0340 others(32): Show a0003c0004t0001g0261 a0003c0004t0001g0337 a0003c0004t0001g0340 a0003c0004t0001g0341 a0003c0004t0007g0244 a0003c0045t0001g0117 a0003c0045t0001g0310 a0006c0003t0002g0055 a0006c0003t0002g0094 a0006c0003t0002g0099 a0006c0003t0002g0170 a0006c0003t0002g0171 a0006c0003t0002g0199 a0006c0003t0002g0318 a0008c0012t0001g0046 a0008c0012t0001g0317 a0008c0012t0001g0343 a0009c0017t0003g0326 a0009c0017t0003g0327 a0014c0009t0008g0004 a0014c0009t0008g0118 a0014c0009t0008g0144 a0014c0009t0008g0145 a0014c0009t0008g0146 a0023c0044t0011g0027 a0023c0044t0011g0119 a0034c0052t0002g0284 a0036c0091t0002g0098 a0037c0047t0002g0286 a0043c0042t0004g0097 a0058c0090t0001g0316 a0084c0096t0001g0136 a0096c0097t0002g0112 a0109c0092t0001g0345 a0112c0088t0002g0188	36	98	0.3673	14	c.932 others(31): Show c.932-3837_932-3836insGTTTTTTTTTTTTT	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	6/22			chr21	TogoVar
UMODL1_chr21_42066317_42147996	42095089	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01192.hp1 HG01981.hp1 HG00642.hp2 HG01192.hp1 HG01981.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0036 a0001c0001 a0012c0036	a0001c0001t0004 a0012c0036t0004 a0001c0001t0004 a0012c0036t0004	a0001c0001t0004g0104 a0001c0001t0004g0107 a0012c0036t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0107 a0012c0036t0004g0103	3	65	0.0462	14	c.932 others(31): Show c.932-3827_932-3814dupTTTTTTTTTTTTTT	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMOD_chr16_20328051_20357715	20345442	C C	CTTCTCTT others(7): Show CTTCTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	294	0.0034	14	c.118 others(31): Show c.1182+683_1182+684insAGAAAGAAAGAGAA	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	5/10			chr16	TogoVar
UMOD_chr16_20328051_20357715	20345509	T T	TCCCTCCC others(7): Show TCCCTCCCTCCCTCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	401	0.0025	14	c.118 others(31): Show c.1182+616_1182+617insGGAGGGAGGGAGGG	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	5/10			chr16	TogoVar
UMPS_chr3_124725452_124754273	124732967	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01109.hp2 HG01884.hp1 others(13): Show HG00544.hp1 HG01109.hp2 HG01884.hp1 HG01928.hp2 HG02145.hp2 HG02257.hp2 HG02486.hp1 HG02559.hp2 HG02622.hp1 HG02818.hp1 HG03471.hp2 NA18979.hp1 NA18979.hp2 NA18989.hp2 NA19000.hp1 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0002c0006 a0001c0001 a0002c0005 a0002c0006	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(8): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0016 a0001c0001t0020 a0001c0001t0060 a0001c0001t0061 a0002c0005t0010 a0002c0005t0030 a0002c0006t0094	a0001c0001t0003g0008 a0001c0001t0003g0066 a0001c0001t0003g0067 others(11): Show a0001c0001t0003g0008 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0005g0008 a0001c0001t0005g0064 a0001c0001t0006g0065 a0001c0001t0007g0008 a0001c0001t0016g0008 a0001c0001t0020g0008 a0001c0001t0060g0008 a0001c0001t0061g0008 a0002c0005t0010g0044 a0002c0005t0030g0043 a0002c0006t0094g0087	16	81	0.1975	14	c.157 others(31): Show c.157-2109_157-2096dupGTGTGTGTGTGTGT	UMPS	ENSG00000114491.14	transcript	ENST00000232607.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
UMPS_chr3_124725452_124754273	124746755	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp2 HG00741.hp1 HG01099.hp1 others(7): Show HG00323.hp2 HG00741.hp1 HG01099.hp1 HG01515.hp1 HG02135.hp2 HG02559.hp2 HG02886.hp2 HG03017.hp1 HG03688.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0016 a0001c0001t0015 a0001c0001t0016	a0001c0001t0015g0005 a0001c0001t0015g0032 a0001c0001t0016g0007 others(3): Show a0001c0001t0015g0005 a0001c0001t0015g0032 a0001c0001t0016g0007 a0001c0001t0016g0008 a0001c0001t0016g0023 a0001c0001t0016g0059	10	17	0.5882	14	c.27 others(25): Show c.2700_*2713dupTGTGTGTGTGTGTG	UMPS	ENSG00000114491.14	transcript	ENST00000232607.7	protein_coding	6/6	2714	INFO_REALIGN_3_PRIME	chr3	TogoVar
UNC13A_chr19_17596336_17693354	17648363	T T	TCCCCGCC others(7): Show TCCCCGCCATGCAAG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	318	0.0031	14	c.181 others(29): Show c.1816+54_1816+67dupCTTGCATGGCGGGG	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	16/43			chr19	TogoVar
UNC13A_chr19_17596336_17693354	17680889	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0273 a0002c0005t0001g0273	1	135	0.0074	14	c.23- others(29): Show c.23-4862_23-4849dupAAAAAAAAAAAAAA	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	1/43			chr19	TogoVar
UNC13B_chr9_35157009_35410335	35157646	A A	ACCTTTTT others(7): Show ACCTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0158 a0005c0006t0001g0158	1	221	0.0045	14	c.-46 others(25): Show c.-4638_-4637insCCTTTTTTTTTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding		4362		chr9	TogoVar
UNC13B_chr9_35157009_35410335	35232177	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02896.hp1 HG03471.hp1 others(3): Show HG02109.hp2 HG02896.hp1 HG03471.hp1 HG03834.hp1 NA18906.hp2 NA20129.hp1	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0012	a0001c0007 a0005c0006 a0006c0008 others(1): Show a0001c0007 a0005c0006 a0006c0008 a0012c0014	a0001c0007t0001 a0005c0006t0001 a0006c0008t0002 others(1): Show a0001c0007t0001 a0005c0006t0001 a0006c0008t0002 a0012c0014t0004	a0001c0007t0001g0015 a0001c0007t0001g0181 a0001c0007t0001g0182 others(3): Show a0001c0007t0001g0015 a0001c0007t0001g0181 a0001c0007t0001g0182 a0005c0006t0001g0196 a0006c0008t0002g0008 a0012c0014t0004g0019	6	33	0.1818	14	c.152 others(29): Show c.152+966_152+979dupTTTTTTTTTTTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35257580	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	80	0.0125	14	c.469 others(31): Show c.469-1396_469-1383dupAAAAAAAAAAAAAA	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	6/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13C_chr15_53973441_54633605	53976477	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00639.hp2 others(7): Show HG00099.hp2 HG00639.hp1 HG00639.hp2 HG01123.hp1 HG01123.hp2 HG01361.hp1 HG01361.hp2 HG02132.hp1 HG03654.hp2 NA18979.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0012 a0008c0023	a0001c0001t0016 a0001c0002t0005 a0001c0002t0006 others(5): Show a0001c0001t0016 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0003t0009 a0001c0006t0049 a0001c0012t0017 a0008c0023t0043	a0001c0001t0016g0113 a0001c0002t0005g0126 a0001c0002t0006g0112 others(7): Show a0001c0001t0016g0113 a0001c0002t0005g0126 a0001c0002t0006g0112 a0001c0002t0009g0133 a0001c0003t0009g0114 a0001c0003t0009g0119 a0001c0006t0049g0108 a0001c0012t0017g0109 a0001c0012t0017g0117 a0008c0023t0043g0129	10	35	0.2857	14	c.-27 others(25): Show c.-2707_-2706insTTTTTTTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding		1963		chr15	TogoVar
UNC13C_chr15_53973441_54633605	54038120	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0075 a0001c0002t0008g0075	1	106	0.0094	14	c.298 others(35): Show c.2983+22235_2983+22236insTTTTTTTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54038122	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02897.hp1 HG00735.hp1 HG02897.hp1	a0001 a0001	a0001c0007 a0001c0033 a0001c0007 a0001c0033	a0001c0007t0012 a0001c0033t0033 a0001c0007t0012 a0001c0033t0033	a0001c0007t0012g0154 a0001c0033t0033g0093 a0001c0007t0012g0154 a0001c0033t0033g0093	2	83	0.0241	14	c.298 others(35): Show c.2983+22237_2983+22238insTTTTTTTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54038124	A A	ATATATTT others(7): Show ATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0029 a0001c0007t0001g0029	1	19	0.0526	14	c.298 others(35): Show c.2983+22239_2983+22240insATATTTTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar

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