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
ANGPT1_chr8_107244482_107502918	107361510	CTATAGAA others(83): Show CTATAGAATATATGTATATATTATATATCAATATAGAATATATGTATATA TTATATATCAATATAGAATATATGTATATATTATATATCAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(125): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp2 HG03041.hp1 HG03139.hp1 HG03239.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG06807.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18959.hp1 NA18961.hp1 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18991.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19056.hp1 NA19060.hp1 NA19063.hp2 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19077.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0003 a0001c0001 a0001c0005 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0027 a0001c0005t0002 a0003c0003t0002	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 others(125): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0246 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0290 a0001c0001t0002g0005 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0058 a0001c0001t0002g0064 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0158 a0001c0001t0002g0167 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0002g0185 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0215 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0252 a0001c0001t0002g0271 a0001c0001t0002g0289 a0001c0001t0005g0181 a0001c0001t0006g0169 a0001c0001t0007g0234 a0001c0001t0009g0062 a0001c0001t0009g0069 a0001c0001t0009g0076 a0001c0001t0010g0010 a0001c0001t0010g0093 a0001c0001t0010g0182 a0001c0001t0012g0060 a0001c0001t0012g0164 a0001c0001t0013g0144 a0001c0001t0014g0147 a0001c0001t0014g0201 a0001c0001t0019g0284 a0001c0001t0020g0014 a0001c0001t0023g0133 a0001c0001t0027g0227 a0001c0005t0002g0115 a0003c0003t0002g0028	128	129	0.9922	-90	c.298 others(109): Show c.298-14503_298-14414delTTGATATATAATATATACATATATTC TATATTGATATATAATATATACATATATTCTATATTGATATATAATATAT ACATATATTCTATA	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1841802	AGGAACTG others(83): Show AGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCGACGGGAACTGGGGCCG CGGCGGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCGGCG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA19030.hp1 HG03579.hp2 NA19030.hp1	a0001 a0001	a0001c0012 a0001c0023 a0001c0012 a0001c0023	a0001c0012t0001 a0001c0023t0001 a0001c0012t0001 a0001c0023t0001	a0001c0012t0001g0034 a0001c0023t0001g0038 a0001c0012t0001g0034 a0001c0023t0001g0038	2	334	0.0060	-90	c.-47 others(107): Show c.-47-1517_-47-1428delACGGGAACTGGGGCCGCGGCGGGAACTG GGGCCGCGGCGGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCGGCGGGA ACTGGGGCCGCG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1841874	GGGAACTG others(83): Show GGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCGGCGGGAACTGGGGCCG CGGCGGGAACTGGGGCCGCGACCGGAACTGGGGCCGCGACC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp2 HG00642.hp1 others(14): Show HG00408.hp1 HG00621.hp2 HG00642.hp1 HG01243.hp2 HG01952.hp2 HG01981.hp1 HG03239.hp2 HG03710.hp1 HG03927.hp1 HG04204.hp2 NA18944.hp1 NA18964.hp2 NA18980.hp1 NA18990.hp1 NA19010.hp2 NA19012.hp2 NA19065.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0010 a0001c0043 a0001c0085 a0002c0129 a0005c0137 a0006c0093	a0001c0001t0002 a0001c0002t0001 a0001c0002t0012 others(12): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0012 a0001c0003t0001 a0001c0003t0007 a0001c0003t0020 a0001c0004t0002 a0001c0005t0001 a0001c0007t0001 a0001c0010t0009 a0001c0043t0014 a0001c0085t0001 a0002c0129t0001 a0005c0137t0001 a0006c0093t0002	a0001c0001t0002g0215 a0001c0001t0002g0260 a0001c0002t0001g0252 others(14): Show a0001c0001t0002g0215 a0001c0001t0002g0260 a0001c0002t0001g0252 a0001c0002t0012g0190 a0001c0003t0001g0062 a0001c0003t0001g0319 a0001c0003t0007g0169 a0001c0003t0020g0084 a0001c0004t0002g0340 a0001c0005t0001g0212 a0001c0007t0001g0200 a0001c0010t0009g0302 a0001c0043t0014g0262 a0001c0085t0001g0207 a0002c0129t0001g0063 a0005c0137t0001g0143 a0006c0093t0002g0271	17	350	0.0486	-90	c.-47 others(107): Show c.-47-1409_-47-1320delACCGGAACTGGGGCCGCGACCGGAACTG GGGCCGCGGCGGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCGGCGGGA ACTGGGGCCGCG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1889369	AGGGGTAT others(83): Show AGGGGTATGTGAGGAGACAGTGATGTGAGGCATCTGTGAGGAGACACTGA GTGGGGTGAGGGGTCTGTGAGGAGACACTGAGTGGGGTGAG	A A	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19091.hp2 NA19064.hp1 NA19091.hp2	a0001 a0001	a0001c0112 a0001c0114 a0001c0112 a0001c0114	a0001c0112t0013 a0001c0114t0013 a0001c0112t0013 a0001c0114t0013	a0001c0112t0013g0139 a0001c0114t0013g0136 a0001c0112t0013g0139 a0001c0114t0013g0136	2	361	0.0055	-90	c.118 others(109): Show c.1182+3666_1182+3755delGTATGTGAGGAGACAGTGATGTGAGG CATCTGTGAGGAGACACTGAGTGGGGTGAGGGGTCTGTGAGGAGACACTG AGTGGGGTGAGGGG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF18_chr19_7343937_7477478	7362071	GAGAAGGA others(83): Show GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03579.hp1 HG02615.hp1 HG03579.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0024 a0002c0007t0001g0025 a0002c0007t0001g0024 a0002c0007t0001g0025	2	263	0.0076	-90	c.-11 others(107): Show c.-110-698_-110-609delGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGGAG AAGAAGGAGAAG	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF18_chr19_7343937_7477478	7362083	GAGAAGGA others(83): Show GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGGAGAAGAAGGAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG06807.hp2 NA19074.hp1 HG02109.hp2 HG06807.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0016 a0001c0001t0002 a0001c0001t0005 a0001c0001t0016	a0001c0001t0002g0247 a0001c0001t0005g0030 a0001c0001t0016g0138 a0001c0001t0002g0247 a0001c0001t0005g0030 a0001c0001t0016g0138	3	266	0.0113	-90	c.-11 others(107): Show c.-110-695_-110-606delAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGGAGAAG AAGGAGAAGAAG	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARSH_chrX_3001546_3039111	3036997	TATATATA others(83): Show TATATATAAAATATTATATATAATATTATATATAATATATATATTATATA TATAAAATATTATATATAATATTATATATAAAATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	242	0.0041	-90	c.36 others(101): Show c.3613_*3702delATATATAAAATATTATATATAATATTATATATAA TATATATATTATATATATAAAATATTATATATAATATTATATATAAAATA TATATA	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		2887		chrX	TogoVar
ARVCF_chr22_19964896_20021823	20020243	TCCCTAAT others(83): Show TCCCTAATGTCTTTGTCATCCATGTCATAGTTTTTTGAATGCTCACTTTG AGGCAGGGCCTGAGCCTCTGGGCTTTGACTCTCCACCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0006 a0003c0017t0006	a0003c0017t0006g0242 a0003c0017t0006g0242	1	372	0.0027	-90	c.-38 others(101): Show c.-3817_-3728delGAAAGGTGGAGAGTCAAAGCCCAGAGGCTCAGGC CCTGCCTCAAAGTGAGCATTCAAAAAACTATGACATGGATGACAAAGACA TTAGGG	ARVCF	ENSG00000099889.14	transcript	ENST00000263207.8	protein_coding		3421		chr22	TogoVar
ATP8B1_chr18_57641426_57808315	57732255	ATATATGT others(83): Show ATATATGTGTATATATGTATATATGTGTATATATGTATATATATGTGTAT ATATGTGTGTATATATGTGTATATATGTGTGTATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0249 a0001c0001t0009g0249	1	312	0.0032	-90	c.-25 others(105): Show c.-25-513_-25-424delCATATATATACACACATATATACACATATA TACACACATATATACACATATATATACATATATACACATATATACATATA TACACATATA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
B3GALT1_chr2_167288001_167879045	167875977	ATATATAC others(83): Show ATATATACACGTATATATATATATACGTATATATATATATACGTATATAT ATATATACGTATATATATATATATACGTATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA19030.hp1 NA18612.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0034 a0001c0001t0015 a0001c0001t0034	a0001c0001t0015g0017 a0001c0001t0034g0044 a0001c0001t0015g0017 a0001c0001t0034g0044	2	105	0.0190	-90	c.59 others(101): Show c.5958_*6047delTATATACACGTATATATATATATACGTATATATA TATATACGTATATATATATATACGTATATATATATATATACGTATATATA TATATG	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		1933		chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167875993	ATATATAT others(83): Show ATATATATACGTATATATATATATACGTATATATATATATACGTATATAT ATATATATACGTATATATATATATGTATATATATATATACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0020 a0001c0001t0019g0020	1	102	0.0098	-90	c.59 others(101): Show c.5974_*6063delTATATATACGTATATATATATATACGTATATATA TATATACGTATATATATATATATACGTATATATATATATGTATATATATA TATACG	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		1949		chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467918	GTGGTGGT others(83): Show GTGGTGGTGGTAGTGATGGTGGTGGTGGTGATGGTACTGGTGGTGATGGT GGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03471.hp1 NA20300.hp1 HG02630.hp2 HG03471.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0001 a0001c0001t0003 a0001c0001t0013	a0001c0001t0001g0033 a0001c0001t0003g0160 a0001c0001t0013g0249 a0001c0001t0001g0033 a0001c0001t0003g0160 a0001c0001t0013g0249	3	260	0.0115	-90	c.487 others(105): Show c.487+724_487+813delTCACCACCACCACCATTACCACCACCATCA CTACCACCACCACCATCACCACCAGTACCATCACCACCACCACCATCACT ACCACCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BICD1_chr12_32101847_32388633	32346548	ATATATAT others(83): Show ATATATATATATATATATATATATATATATATATACGTGTATATATATAT ATATATATATATATACGTGTATATATATATATATATACGTG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02257.hp1 HG03195.hp2 others(7): Show HG01346.hp1 HG02257.hp1 HG03195.hp2 HG03471.hp1 HG03492.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04184.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0016 a0001c0001t0019 a0001c0001t0039 others(6): Show a0001c0001t0016 a0001c0001t0019 a0001c0001t0039 a0001c0003t0002 a0001c0003t0013 a0001c0003t0042 a0001c0003t0052 a0001c0003t0053 a0001c0003t0054	a0001c0001t0016g0041 a0001c0001t0019g0184 a0001c0001t0039g0099 others(7): Show a0001c0001t0016g0041 a0001c0001t0019g0184 a0001c0001t0039g0099 a0001c0003t0002g0240 a0001c0003t0013g0192 a0001c0003t0013g0282 a0001c0003t0042g0274 a0001c0003t0052g0286 a0001c0003t0053g0285 a0001c0003t0054g0080	10	287	0.0348	-90	c.276 others(109): Show c.2764+7590_2764+7679delTATATATATATATACGTGTATATATA TATATATATATATATATACGTGTATATATATATATATATACGTGTATATA TATATATATATATA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BOP1_chr8_144257045_144296438	144280939	GTTTAATA others(83): Show GTTTAATACCAGGTCTTTGGCCTTCTCTCACTTTAATACCAGGTCTTCGG CCTTCTCTCACTTTCATACCAGGTCTTCGGCCTTCTCTCAC	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0040	1	390	0.0026	-90	c.310 others(107): Show c.310-4725_310-4636delGTGAGAGAAGGCCGAAGACCTGGTATGA AAGTGAGAGAAGGCCGAAGACCTGGTATTAAAGTGAGAGAAGGCCAAAGA CCTGGTATTAAA	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281059	CTTTCATA others(83): Show CTTTCATACCAGGTCTTCGGCCTTCTCTCACTTTAATACCAGGTCTTCGG CCTTCTCTCAGTTTAATACCAGGTCTTAGGCCTTCTCTCAG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG02015.hp1 others(10): Show HG00408.hp1 HG00438.hp1 HG02015.hp1 HG02074.hp2 HG02165.hp1 HG02523.hp2 NA18940.hp1 NA18946.hp1 NA18970.hp2 NA18971.hp2 NA18980.hp2 NA19066.hp1 NA19070.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0024 a0001c0001 a0008c0024	a0001c0001t0001 a0008c0024t0001 a0001c0001t0001 a0008c0024t0001	a0001c0001t0001g0033 a0001c0001t0001g0137 a0001c0001t0001g0138 others(10): Show a0001c0001t0001g0033 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0008c0024t0001g0150	13	369	0.0352	-90	c.310 others(107): Show c.310-4845_310-4756delCTGAGAGAAGGCCTAAGACCTGGTATTA AACTGAGAGAAGGCCGAAGACCTGGTATTAAAGTGAGAGAAGGCCGAAGA CCTGGTATGAAA	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281063	CATACCAG others(83): Show CATACCAGGTCTTCGGCCTTCTCTCACTTTAATACCAGGTCTTCGGCCTT CTCTCAGTTTAATACCAGGTCTTAGGCCTTCTCTCAGTTTA	C C	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	313	0.0032	-90	c.310 others(107): Show c.310-4849_310-4760delTAAACTGAGAGAAGGCCTAAGACCTGGT ATTAAACTGAGAGAAGGCCGAAGACCTGGTATTAAAGTGAGAGAAGGCCG AAGACCTGGTAT	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281084	TCTCACTT others(83): Show TCTCACTTTAATACCAGGTCTTCGGCCTTCTCTCAGTTTAATACCAGGTC TTAGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG03491.hp1 HG03491.hp2 HG01978.hp2 HG03491.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0182 a0001c0001t0001g0206 a0001c0001t0001g0079 a0001c0001t0001g0182 a0001c0001t0001g0206	3	395	0.0076	-90	c.310 others(107): Show c.310-4870_310-4781delGGAAGGCCGAAGACCTGGTATTAAACTG AGAGAAGGCCTAAGACCTGGTATTAAACTGAGAGAAGGCCGAAGACCTGG TATTAAAGTGAG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281106	CGGCCTTC others(83): Show CGGCCTTCTCTCAGTTTAATACCAGGTCTTAGGCCTTCTCTCAGTTTAAT ACCAGGTCTTCGGCCTTCCCTCACTTTCATACCAGGTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(2): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0212 a0001c0001t0001g0213 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0225	5	186	0.0269	-90	c.310 others(107): Show c.310-4892_310-4803delAAAGACCTGGTATGAAAGTGAGGGAAGG CCGAAGACCTGGTATTAAACTGAGAGAAGGCCTAAGACCTGGTATTAAAC TGAGAGAAGGCC	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281144	TCTCAGTT others(83): Show TCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCACTTTCATACCAGGTC TTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0040	1	358	0.0028	-90	c.310 others(107): Show c.310-4930_310-4841delGGAAGGCCGAAGACCTGGTATTAAACTG AGAGAAGGCCAAAGACCTGGTATGAAAGTGAGGGAAGGCCGAAGACCTGG TATTAAACTGAG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281183	CATACCAG others(83): Show CATACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTT CCCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA18979.hp2 HG01243.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0159 a0001c0012t0001g0078 a0001c0001t0001g0159 a0001c0012t0001g0078	2	236	0.0085	-90	c.310 others(107): Show c.310-4969_310-4880delTAAACTGAGGGAAGGCCGAAGACCTGGT ATTAAACTGAGGGAAGGCCGAAGACCTGGTATTAAACTGAGAGAAGGCCA AAGACCTGGTAT	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281299	CTTTCATA others(83): Show CTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGG CCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	316	0.0032	-90	c.310 others(107): Show c.310-5085_310-4996delCTGAGGGAAGGCCGAAGACCTGGTATTA AACTGAGGGAAGGCCGAAGACCTGGTATTAAACTGAGAGAAGGCCAAAGA CCTGGTATGAAA	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281346	CGGCCTTC others(83): Show CGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTAAT ACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGTCTTT	C C	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	368	0.0027	-90	c.310 others(107): Show c.310-5132_310-5043delAAAGACCTGGTATGAAAGTGAGAGAAGG CCGAAGACCTGGTATTAAACTGAGGGAAGGCCGAAGACCTGGTATTAAAC TGAGGGAAGGCC	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281384	CCTCAGTT others(83): Show CCTCAGTTTAATACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGTC TTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0167 a0001c0006t0001g0167	1	348	0.0029	-90	c.310 others(107): Show c.310-5170_310-5081delAGAAGGCCGAAGACCTGGTATTAAACTG AGAGAAGGCCAAAGACCTGGTATGAAAGTGAGAGAAGGCCGAAGACCTGG TATTAAACTGAG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281414	TCTCACTT others(83): Show TCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTC TTCGGCCTTCTCTCACTTTCATACCAGGTCTTTGGCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA21309.hp2 HG02055.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0160 a0001c0002t0001g0040 a0001c0001t0001g0160 a0001c0002t0001g0040	2	377	0.0053	-90	c.310 others(107): Show c.310-5200_310-5111delGGAAGGCCAAAGACCTGGTATGAAAGTG AGAGAAGGCCGAAGACCTGGTATTAAACTGAGAGAAGGCCAAAGACCTGG TATGAAAGTGAG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281419	CTTTCATA others(83): Show CTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGG CCTTCTCTCACTTTCATACCAGGTCTTTGGCCTTCCCTCAG	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	372	0.0027	-90	c.310 others(107): Show c.310-5205_310-5116delCTGAGGGAAGGCCAAAGACCTGGTATGA AAGTGAGAGAAGGCCGAAGACCTGGTATTAAACTGAGAGAAGGCCAAAGA CCTGGTATGAAA	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281444	TCTCAGTT others(83): Show TCTCAGTTTAATACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGTC TTTGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03942.hp1 NA18979.hp2 others(2): Show HG02738.hp1 HG03942.hp1 NA18979.hp2 NA19005.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0064 a0001c0001t0001g0088 a0001c0001t0001g0155 others(2): Show a0001c0001t0001g0064 a0001c0001t0001g0088 a0001c0001t0001g0155 a0001c0001t0001g0234 a0001c0012t0001g0078	5	352	0.0142	-90	c.310 others(107): Show c.310-5230_310-5141delGGAAGGCCGAAGACCTGGTATTAAACTG AGGGAAGGCCAAAGACCTGGTATGAAAGTGAGAGAAGGCCGAAGACCTGG TATTAAACTGAG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BTBD9_chr6_38163451_38644929	38166082	CCACCCGC others(83): Show CCACCCGCACAGCAGAGCCCTCCACCTCCCCCCACCCGCACAGCAGAGCC CTCCACCTCCCCCAGCACAGCAGAACCCTCCACCTCCCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG02074.hp2 others(11): Show HG00438.hp2 HG00558.hp1 HG02074.hp2 HG02976.hp2 HG03927.hp1 NA18612.hp2 NA18956.hp1 NA18964.hp1 NA18970.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA19063.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0019 a0001c0001t0035 others(9): Show a0001c0001t0013 a0001c0001t0019 a0001c0001t0035 a0001c0001t0047 a0001c0001t0065 a0001c0001t0067 a0001c0001t0068 a0001c0001t0070 a0001c0001t0071 a0001c0001t0073 a0001c0001t0074 a0001c0001t0102	a0001c0001t0013g0082 a0001c0001t0013g0139 a0001c0001t0019g0061 others(11): Show a0001c0001t0013g0082 a0001c0001t0013g0139 a0001c0001t0019g0061 a0001c0001t0019g0062 a0001c0001t0035g0048 a0001c0001t0047g0119 a0001c0001t0065g0077 a0001c0001t0067g0165 a0001c0001t0068g0159 a0001c0001t0070g0141 a0001c0001t0071g0011 a0001c0001t0073g0053 a0001c0001t0074g0023 a0001c0001t0102g0209	14	221	0.0633	-90	c.88 others(101): Show c.8813_*8902delTGGGGGAGGTGGAGGGTTCTGCTGTGCTGGGGGA GGTGGAGGGCTCTGCTGTGCGGGTGGGGGGAGGTGGAGGGCTCTGCTGTG CGGGTG	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding		2368		chr6	TogoVar
C1QTNF9_chr13_24304580_24327531	24308663	GCTCCTGC others(83): Show GCTCCTGCTCTGTGCGTGGCCTCGCCGCCGAGCTGGGGTGAGCCCCGCAC CCACCCGTACACCCGGCCTCTGCTCCTGCTCTTTGCGTGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA19009.hp1 NA18948.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	464	0.0043	-90	c.-97 others(99): Show c.-975_-886delCTCCTGCTCTGTGCGTGGCCTCGCCGCCGAGCTGGG GTGAGCCCCGCACCCACCCGTACACCCGGCCTCTGCTCCTGCTCTTTGCG TGGC	C1QTNF9	ENSG00000240654.6	transcript	ENST00000332018.5	protein_coding		916		chr13	TogoVar
C1orf116_chr1_207013522_207037756	207037363	CTTCCCTT others(83): Show CTTCCCTTACCTGGCTCCTTAAATGTTGGGAGTTACTTGCAGCTTGGTGC TGAGTCTTCCTCCCTATATACACTCTCTCTACCTTCTCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0009 a0002c0002t0008g0009	1	388	0.0026	-90	c.-49 others(101): Show c.-4956_-4867delAGAGAGAAGGTAGAGAGAGTGTATATAGGGAGGA AGACTCAGCACCAAGCTGCAAGTAACTCCCAACATTTAAGGAGCCAGGTA AGGGAA	C1orf116	ENSG00000182795.13	transcript	ENST00000359470.6	protein_coding		4608		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077103	GCTACGGG others(83): Show GCTACGGGGACTCCGTGCGGGGAGGCTGAGTCTACGGGGACTCCGTGAGG GGTGGCTGAGTCTATGGGGACTCCGTGCGGGGAGGCTGAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02572.hp2 others(5): Show HG01884.hp2 HG02109.hp2 HG02572.hp2 HG02615.hp2 HG02886.hp2 HG02970.hp2 HG03139.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0106 a0001c0001t0007g0145 a0001c0001t0007g0146 others(5): Show a0001c0001t0007g0106 a0001c0001t0007g0145 a0001c0001t0007g0146 a0001c0001t0007g0148 a0001c0001t0007g0287 a0001c0001t0007g0290 a0001c0001t0007g0300 a0001c0001t0007g0303	8	229	0.0349	-90	c.57 others(101): Show c.5700_*5789delACTCAGCCTCCCCGCACGGAGTCCCCATAGACTC AGCCACCCCTCACGGAGTCCCCGTAGACTCAGCCTCCCCGCACGGAGTCC CCGTAG	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4719		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077539	GCCGAGAG others(83): Show GCCGAGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATG GGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	289	0.0035	-90	c.52 others(101): Show c.5264_*5353delAACGGAGTCCCCATAGACTCAGCCTCCCGGCACG GAGTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCC TCTCGG	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4283		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078021	CGGGAGGC others(83): Show CGGGAGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGG GACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	198	0.0051	-90	c.47 others(101): Show c.4782_*4871delCGCACGGAGTCCCCATAGCCTCAGCCTCCCCCAA CGGAGTCCCCATAGCCTCAGCCTCCCCCAACGGAGTCCCCATAGACTCAG CCTCCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3801		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078033	TCTATGGG others(83): Show TCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGG GGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0103 a0001c0001t0003g0103	1	89	0.0112	-90	c.47 others(101): Show c.4770_*4859delCCTCAGCCTCCCCGCACGGAGTCCCCATAGCCTC AGCCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTCCCCCAACGGAGTCC CCATAG	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3789		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078205	AGGCTGAG others(83): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGCGTCTATGGGGACTCCGTGAGGGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02809.hp2 HG02647.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0069 a0001c0001t0003g0027 a0001c0001t0001g0069 a0001c0001t0003g0027	2	248	0.0081	-90	c.45 others(101): Show c.4598_*4687delACCCCTCACGGAGTCCCCATAGACGCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCC TCAGCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3617		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078745	AGGCTGAG others(83): Show AGGCTGAGGCTATGGGCACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	1	323	0.0031	-90	c.40 others(101): Show c.4058_*4147delACCCCTCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTGCCCATAGCC TCAGCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3077		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078771	GGGGAGGC others(83): Show GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0103 a0001c0001t0003g0103	1	315	0.0032	-90	c.40 others(101): Show c.4032_*4121delGGCACGGAGTCCCCATAGCCTCAGCCACCCCTCA CGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAG CCTCCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3051		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078835	TGGCTGAG others(83): Show TGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG02015.hp2 HG02027.hp1 others(9): Show HG01106.hp2 HG02015.hp2 HG02027.hp1 HG02129.hp1 HG02165.hp1 HG02735.hp2 NA18952.hp2 NA18966.hp1 NA18970.hp2 NA19000.hp1 NA19010.hp1 NA19085.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0006c0006t0001 a0001c0001t0001 a0006c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0031 a0001c0001t0001g0048 a0001c0001t0001g0142 a0001c0001t0001g0157 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0266 a0006c0006t0001g0132	12	172	0.0698	-90	c.39 others(101): Show c.3968_*4057delTCCCCGCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCC TCAGCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		2987		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1108276	CCACCACA others(83): Show CCACCACAGCCACCATGTCTCGGCACCGTTCACCACAGCCACCATGTCTC AGCAGCACCGTCCACCACAGCCACCATGTCTTGGCACTGTT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02559.hp1 HG02572.hp1 others(8): Show HG01099.hp2 HG02559.hp1 HG02572.hp1 HG02647.hp1 HG02922.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03225.hp1 NA19074.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0002t0004	a0001c0001t0001g0185 a0001c0001t0001g0233 a0001c0001t0001g0234 others(8): Show a0001c0001t0001g0185 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0302 a0001c0001t0002g0232 a0001c0001t0009g0053 a0001c0001t0009g0228 a0001c0001t0009g0231 a0001c0002t0004g0229 a0001c0002t0004g0230	11	324	0.0340	-90	c.-13 others(109): Show c.-136+7694_-136+7783delAACAGTGCCAAGACATGGTGGCTGTG GTGGACGGTGCTGCTGAGACATGGTGGCTGTGGTGAACGGTGCCGAGACA TGGTGGCTGTGGTG	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding	1/9			chr1	TogoVar
C2CD2_chr21_41880112_41959018	41891107	GGACTGCT others(83): Show GGACTGCTGGAAAAGGAATGAAAAAGGTGGGTAAGTAGTGACATTTTTTA CAGTGATCTAAAGTTAGGAGCCTGTGTGCAGGAGCTTCGGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(54): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00609.hp1 HG00621.hp1 HG00741.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01261.hp1 HG01496.hp2 HG01516.hp1 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02451.hp2 HG02559.hp2 HG02809.hp2 HG02895.hp1 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03239.hp1 HG03471.hp2 HG03579.hp1 NA18612.hp2 NA18943.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18966.hp1 NA18984.hp1 NA18985.hp2 NA18989.hp2 NA18990.hp2 NA19002.hp1 NA19009.hp2 NA19043.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19078.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19088.hp1 NA19091.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0013 a0001c0025 a0001c0033 a0001c0037 a0001c0039 a0002c0018 a0003c0029 a0003c0034 a0004c0016 a0009c0026	a0001c0001t0004 a0001c0001t0013 a0001c0001t0036 others(19): Show a0001c0001t0004 a0001c0001t0013 a0001c0001t0036 a0001c0002t0004 a0001c0002t0028 a0001c0002t0029 a0001c0003t0004 a0001c0003t0027 a0001c0003t0035 a0001c0004t0004 a0001c0004t0022 a0001c0006t0034 a0001c0013t0004 a0001c0025t0004 a0001c0033t0018 a0001c0037t0004 a0001c0039t0013 a0002c0018t0022 a0003c0029t0004 a0003c0034t0004 a0004c0016t0004 a0009c0026t0004	a0001c0001t0004g0098 a0001c0001t0004g0113 a0001c0001t0004g0125 others(54): Show a0001c0001t0004g0098 a0001c0001t0004g0113 a0001c0001t0004g0125 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0152 a0001c0001t0004g0190 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0266 a0001c0001t0004g0288 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0317 a0001c0001t0004g0338 a0001c0001t0013g0371 a0001c0001t0036g0356 a0001c0002t0004g0067 a0001c0002t0004g0087 a0001c0002t0004g0089 a0001c0002t0004g0114 a0001c0002t0004g0115 a0001c0002t0004g0181 a0001c0002t0004g0185 a0001c0002t0004g0195 a0001c0002t0004g0206 a0001c0002t0004g0321 a0001c0002t0004g0326 a0001c0002t0004g0343 a0001c0002t0004g0368 a0001c0002t0028g0080 a0001c0002t0029g0363 a0001c0003t0004g0084 a0001c0003t0004g0107 a0001c0003t0004g0109 a0001c0003t0004g0162 a0001c0003t0004g0170 a0001c0003t0004g0213 a0001c0003t0004g0219 a0001c0003t0027g0179 a0001c0003t0035g0240 a0001c0004t0004g0280 a0001c0004t0004g0281 a0001c0004t0022g0391 a0001c0006t0034g0289 a0001c0013t0004g0097 a0001c0013t0004g0171 a0001c0025t0004g0273 a0001c0033t0018g0229 a0001c0037t0004g0021 a0001c0039t0013g0302 a0002c0018t0022g0285 a0003c0029t0004g0237 a0003c0034t0004g0228 a0004c0016t0004g0134 a0004c0016t0004g0135 a0009c0026t0004g0271	57	394	0.1447	-90	c.187 others(109): Show c.1871-1853_1871-1764delTCCGAAGCTCCTGCACACAGGCTCCT AACTTTAGATCACTGTAAAAAATGTCACTACTTACCCACCTTTTTCATTC CTTTTCCAGCAGTC	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	13/13			chr21	TogoVar
C2CD4C_chr19_400445_414147	404225	GGGACGGG others(83): Show GGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGTCCTGTCCTGA GGGGTCTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0021 a0001c0001t0025g0021	1	318	0.0031	-90	c.27 others(101): Show c.2781_*2870delACACCCCCTCAGGGCAGGACCCCGTCCCCCCCTC AGACCCCTCAGGACAGGACCCGTCCCCCCCACACCCCTCAGGGCAGGACC CCGTCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1219		chr19	TogoVar
C7orf50_chr7_992006_1143247	1016116	GCAGCACA others(83): Show GCAGCACACAGCAGCACACGCCAGCACACAGCAGCACACGCCAGCACACA GCAGCACACAGCAGCACACGCCAGCACACAGCAGCGCACGC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02922.hp2 HG02630.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0011g0306 a0001c0001t0011g0307	2	303	0.0066	-90	c.130 others(107): Show c.130-6063_130-5974delGCGTGCGCTGCTGTGTGCTGGCGTGTGC TGCTGTGTGCTGCTGTGTGCTGGCGTGTGCTGCTGTGTGCTGGCGTGTGC TGCTGTGTGCTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNB2_chr10_18135424_18548557	18442910	ATATATAT others(83): Show ATATATATATATATATGTATATATATATATATGTGTATATATATATATGT ATATATATATGTGTATATATATATATGTATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0041 a0001c0002t0002g0041	1	200	0.0050	-90	c.333 others(109): Show c.333+40881_333+40970delATGTATATATATATATATGTGTATAT ATATATATGTATATATATATGTGTATATATATATATGTATATATATATGT GTATATATATATAT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18442910	ATATATAT others(83): Show ATATATATATATATATGTATATATATATATATGTGTATATATATATATGT ATATATATATGTGTATATATATATATGTATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0149 a0001c0002t0002g0149	1	300	0.0033	-90	c.171 others(109): Show c.171+40881_171+40970delATGTATATATATATATATGTGTATAT ATATATATGTATATATATATGTGTATATATATATATGTATATATATATGT GTATATATATATAT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNG3_chr16_24251335_24367412	24317627	ACAGACAG others(83): Show ACAGACAGAAAGAAAGAAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02886.hp1 HG02258.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0240 a0001c0001t0004g0339 a0001c0001t0001g0240 a0001c0001t0004g0339	2	358	0.0056	-90	c.212 others(109): Show c.212-29106_212-29017delCAGACAGAAAGAAAGAAAAGAAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAAG	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3			chr16	TogoVar
CAMK1D_chr10_12344547_12840545	12401093	TATTATAT others(83): Show TATTATATATATATTTTATATATATAATATATGTATTATATATATTATAT ATATATTTTATATATATATAATATATGTATTATATATATTA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0153 a0001c0002t0008g0153	1	214	0.0047	-90	c.92+ others(107): Show c.92+51184_92+51273delATTATATATATATTTTATATATATAATA TATGTATTATATATATTATATATATATTTTATATATATATAATATATGTA TTATATATATTA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10			chr10	TogoVar
CAMK2B_chr7_44212154_44330594	44227397	GGAGAGTC others(83): Show GGAGAGTCTGGGGGACAGAGGGGGTGTGGGGGACAGGAGGGGGTGTGGAA GACAGAGGAAGTGTGGGGGACAGAAGGGGGTATGGGGGGCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG00621.hp1 others(4): Show HG00280.hp1 HG00544.hp2 HG00621.hp1 HG01109.hp2 HG02602.hp2 NA18983.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0004 a0001c0004t0006 a0001c0002t0001 a0001c0002t0004 a0001c0004t0006	a0001c0002t0001g0089 a0001c0002t0001g0101 a0001c0002t0001g0126 others(4): Show a0001c0002t0001g0089 a0001c0002t0001g0101 a0001c0002t0001g0126 a0001c0002t0001g0161 a0001c0002t0001g0177 a0001c0002t0004g0087 a0001c0004t0006g0100	7	227	0.0308	-90	c.146 others(107): Show c.1469-843_1469-754delTGCCCCCCATACCCCCTTCTGTCCCCCA CACTTCCTCTGTCTTCCACACCCCCTCCTGTCCCCCACACCCCCTCTGTC CCCCAGACTCTC	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMKMT_chr2_44356947_44777592	44409093	ATATATAT others(83): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp2 HG02145.hp1 others(4): Show HG01109.hp2 HG02109.hp2 HG02145.hp1 HG02451.hp2 HG03041.hp1 HG03579.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(4): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0002g0017 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023	7	198	0.0354	-90	c.376 others(109): Show c.376+18794_376+18883delATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATATATATATATATATATAT ATATATATGTATAT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMTA1_chr1_6780454_7774706	7474135	CCTATTAG others(83): Show CCTATTAGCTGTGTGACACTGGGCAGTTTGTCTAATTTCTCCGAGTCTCA GTTAGCTCATCCATAAAATGGAGCCAACAGCAAAGAAGCAG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp2 HG03486.hp1 others(5): Show HG01243.hp1 HG02451.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp2 HG03704.hp1 HG03704.hp2 NA19043.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0001c0015 a0007c0014	a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0015 a0001c0003t0010 a0001c0006t0005 a0001c0015t0006 a0007c0014t0001	a0001c0001t0002g0002 a0001c0001t0004g0026 a0001c0001t0011g0058 others(5): Show a0001c0001t0002g0002 a0001c0001t0004g0026 a0001c0001t0011g0058 a0001c0001t0015g0037 a0001c0003t0010g0035 a0001c0006t0005g0057 a0001c0015t0006g0043 a0007c0014t0001g0041	8	58	0.1379	-90	c.510 others(107): Show c.510+6251_510+6340delACTGGGCAGTTTGTCTAATTTCTCCGAG TCTCAGTTAGCTCATCCATAAAATGGAGCCAACAGCAAAGAAGCAGCTAT TAGCTGTGTGAC	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7506969	GCACTTGC others(83): Show GCACTTGCTCTGATACTGACACTCAAAATTCACACTAACATCTCATGCTC ACACTCAAAACTCATGCTCACATTATCACACTCAAAATTCA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0026 a0001c0017t0026	a0001c0017t0026g0027 a0001c0017t0026g0027	1	58	0.0172	-90	c.510 others(109): Show c.510+39079_510+39168delGATACTGACACTCAAAATTCACACTA ACATCTCATGCTCACACTCAAAACTCATGCTCACATTATCACACTCAAAA TTCACACTTGCTCT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CANT1_chr17_78986716_79014764	79004637	GGAGAGGG others(83): Show GGAGAGGGGAGCTGGGGGGGAGTTATGGAGCAAGGAGTTAGGGAGGGGGG AGTTAGGGAGATGGGAGTTAGGGAGAGGGGGGTTAGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	391	0.0026	-90	c.-14 others(109): Show c.-147+4937_-147+5026delTCTCCCTAACCCCCCTCTCCCTAACT CCCATCTCCCTAACTCCCCCCTCCCTAACTCCTTGCTCCATAACTCCCCC CCAGCTCCCCTCTC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar

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