Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SUSD4_chr1_223215831_223369176	223304793	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	276	0.0036	-22	c.149 others(41): Show c.149-12164_149-12143delATATATATATATATATATATAT	SUSD4	ENSG00000143502.16	transcript	ENST00000366878.9	protein_coding	2/8			chr1	TogoVar
SUSD5_chr3_33145043_33223810	33206412	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG02040.hp1 others(20): Show HG00438.hp1 HG00438.hp2 HG02040.hp1 HG02056.hp2 HG02135.hp1 HG02300.hp1 HG02451.hp2 HG02647.hp2 HG02818.hp1 HG03209.hp1 HG03516.hp2 HG03669.hp1 HG03704.hp1 NA18960.hp1 NA18962.hp2 NA18965.hp1 NA18970.hp2 NA18983.hp1 NA18990.hp2 NA19002.hp2 NA19005.hp1 NA19011.hp1 NA19072.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0002c0002t0002	a0001c0001t0001g0189 a0001c0001t0003g0142 a0001c0001t0003g0163 others(19): Show a0001c0001t0001g0189 a0001c0001t0003g0142 a0001c0001t0003g0163 a0001c0001t0003g0286 a0001c0001t0003g0368 a0001c0001t0007g0016 a0001c0001t0007g0017 a0001c0001t0007g0020 a0001c0001t0007g0021 a0001c0001t0007g0050 a0001c0001t0007g0159 a0001c0001t0007g0190 a0001c0001t0007g0193 a0001c0001t0007g0194 a0001c0001t0008g0081 a0001c0001t0008g0082 a0001c0001t0008g0271 a0002c0002t0002g0004 a0002c0002t0002g0158 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0328	23	404	0.0569	-22	c.409 others(39): Show c.409+1374_409+1395delACACACACACACACACACACAC	SUSD5	ENSG00000173705.9	transcript	ENST00000309558.8	protein_coding	3/4			chr3	TogoVar
SUSD6_chr14_69606596_69720144	69635595	CCACACAC others(15): Show CCACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA20905.hp2 HG03688.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0020 a0001c0001t0003 a0001c0001t0020	a0001c0001t0003g0138 a0001c0001t0020g0140 a0001c0001t0003g0138 a0001c0001t0020g0140	2	288	0.0069	-22	c.-80 others(41): Show c.-80-22891_-80-22870delCACACACACACACACACACACA	SUSD6	ENSG00000100647.8	transcript	ENST00000342745.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
SUZ12_chr17_31932007_32006038	31980429	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01257.hp2 HG03831.hp1 HG01256.hp1 HG01257.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0006t0001g0188 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0006t0001g0188	3	280	0.0107	-22	c.918 others(39): Show c.918-2554_918-2533delTTTTTTTTTTTTTTTTTTTTTT	SUZ12	ENSG00000178691.11	transcript	ENST00000322652.10	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr17	TogoVar
SUZ12_chr17_31932007_32006038	31987612	CTTTGGGT others(15): Show CTTTGGGTACCACAATTTTATTT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01891.hp1 HG02055.hp1 others(9): Show HG01192.hp1 HG01891.hp1 HG02055.hp1 HG02257.hp2 HG02615.hp1 HG02647.hp2 HG02896.hp2 HG02922.hp1 HG03139.hp1 HG03195.hp2 NA19240.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0009 a0001c0003t0008 a0001c0001t0004 a0001c0001t0009 a0001c0003t0008	a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 others(9): Show a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0009g0027 a0001c0001t0009g0028 a0001c0003t0008g0026 a0001c0003t0008g0029 a0001c0003t0008g0030	12	280	0.0429	-22	c.102 others(39): Show c.1024-705_1024-684delTGGGTACCACAATTTTATTTTT	SUZ12	ENSG00000178691.11	transcript	ENST00000322652.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr17	TogoVar
SV2C_chr5_76078383_76338956	76223436	CATACATA others(15): Show CATACATACATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02717.hp2 NA20129.hp2 HG00733.hp1 HG02717.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0008 a0001c0002t0036 a0003c0004t0009 a0001c0001t0008 a0001c0002t0036 a0003c0004t0009	a0001c0001t0008g0217 a0001c0002t0036g0014 a0003c0004t0009g0017 a0001c0001t0008g0217 a0001c0002t0036g0014 a0003c0004t0009g0017	3	234	0.0128	-22	c.913 others(41): Show c.913+13553_913+13574delCATACATATATATATATATATA	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SV2C_chr5_76078383_76338956	76223475	ATATATAT others(15): Show ATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03486.hp1 HG02976.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0065 a0002c0003t0017 a0001c0001t0065 a0002c0003t0017	a0001c0001t0065g0233 a0002c0003t0017g0030 a0001c0001t0065g0233 a0002c0003t0017g0030	2	234	0.0086	-22	c.913 others(41): Show c.913+13594_913+13615delATATATATATATATATGTATAT	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SVBP_chr1_42802052_42822397	42808137	GTGTGTGT others(15): Show GTGTGTGTGTGTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0131 a0001c0001t0008g0131	1	394	0.0025	-22	c.115 others(37): Show c.115-659_115-638delTATATATATACACACACACACA	SVBP	ENSG00000177868.12	transcript	ENST00000372521.9	protein_coding	2/2			chr1	TogoVar
SVBP_chr1_42802052_42822397	42808139	GTGTGTGT others(15): Show GTGTGTGTGTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02559.hp1 HG02572.hp1 others(11): Show HG02145.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02976.hp2 HG03139.hp2 HG03195.hp2 HG03486.hp1 HG03486.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0007 a0001c0001t0010	a0001c0001t0007g0012 a0001c0001t0007g0023 a0001c0001t0007g0183 others(2): Show a0001c0001t0007g0012 a0001c0001t0007g0023 a0001c0001t0007g0183 a0001c0001t0007g0195 a0001c0001t0010g0054	14	394	0.0355	-22	c.115 others(37): Show c.115-661_115-640delTATATATATATACACACACACA	SVBP	ENSG00000177868.12	transcript	ENST00000372521.9	protein_coding	2/2			chr1	TogoVar
SVBP_chr1_42802052_42822397	42808141	GTGTGTGT others(15): Show GTGTGTGTGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0140 a0001c0001t0005g0140	1	394	0.0025	-22	c.115 others(37): Show c.115-663_115-642delTATATATATATATACACACACA	SVBP	ENSG00000177868.12	transcript	ENST00000372521.9	protein_coding	2/2			chr1	TogoVar
SVEP1_chr9_110360248_110584741	110533595	TGTGTGTG others(15): Show TGTGTGTGTGTGTGCACGCACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00438.hp1 others(99): Show HG00099.hp2 HG00323.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00673.hp2 HG01070.hp1 HG01071.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01496.hp1 HG01928.hp1 HG01943.hp2 HG01993.hp2 HG02015.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG03130.hp1 HG03225.hp2 HG03239.hp1 HG03654.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04204.hp2 NA18612.hp1 NA18939.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18957.hp1 NA18960.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp2 NA18984.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19057.hp2 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19074.hp1 NA19081.hp2 NA19083.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 others(37): Show a0001 a0002 a0003 a0006 a0007 a0008 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0019 a0026 a0033 a0038 a0049 a0050 a0051 a0056 a0057 a0058 a0062 a0070 a0071 a0076 a0081 a0089 a0095 a0096 a0098 a0099 a0101 a0104 a0105 a0106 a0107 a0108 a0109	a0001c0002 a0001c0053 a0002c0001 others(43): Show a0001c0002 a0001c0053 a0002c0001 a0003c0004 a0003c0032 a0003c0126 a0006c0003 a0007c0019 a0007c0159 a0008c0008 a0010c0013 a0011c0025 a0012c0009 a0012c0157 a0013c0070 a0014c0012 a0015c0011 a0016c0014 a0019c0015 a0026c0124 a0033c0030 a0038c0043 a0038c0156 a0049c0054 a0050c0051 a0051c0050 a0056c0042 a0057c0078 a0058c0044 a0062c0145 a0070c0083 a0071c0084 a0076c0088 a0081c0104 a0089c0135 a0095c0125 a0096c0112 a0098c0127 a0099c0119 a0101c0121 a0104c0132 a0105c0129 a0106c0109 a0107c0077 a0108c0076 a0109c0075	a0001c0002t0001 a0001c0002t0002 a0001c0053t0001 others(56): Show a0001c0002t0001 a0001c0002t0002 a0001c0053t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0004 a0003c0004t0001 a0003c0032t0001 a0003c0126t0001 a0006c0003t0001 a0006c0003t0002 a0006c0003t0003 a0007c0019t0001 a0007c0019t0004 a0007c0159t0008 a0008c0008t0001 a0008c0008t0002 a0010c0013t0001 a0010c0013t0003 a0011c0025t0002 a0012c0009t0001 a0012c0157t0006 a0013c0070t0002 a0014c0012t0002 a0014c0012t0003 a0015c0011t0001 a0015c0011t0002 a0016c0014t0004 a0019c0015t0002 a0019c0015t0003 a0026c0124t0002 a0033c0030t0002 a0038c0043t0001 a0038c0043t0003 a0038c0156t0007 a0049c0054t0001 a0049c0054t0004 a0050c0051t0001 a0051c0050t0004 a0056c0042t0001 a0057c0078t0002 a0058c0044t0001 a0062c0145t0001 a0070c0083t0001 a0071c0084t0005 a0076c0088t0004 a0081c0104t0003 a0089c0135t0001 a0095c0125t0001 a0096c0112t0001 a0098c0127t0001 a0099c0119t0002 a0101c0121t0003 a0104c0132t0003 a0105c0129t0001 a0106c0109t0001 a0107c0077t0002 a0108c0076t0001 a0109c0075t0015	a0001c0002t0001g0118 a0001c0002t0002g0027 a0001c0002t0002g0288 others(99): Show a0001c0002t0001g0118 a0001c0002t0002g0027 a0001c0002t0002g0288 a0001c0002t0002g0336 a0001c0053t0001g0122 a0002c0001t0001g0133 a0002c0001t0002g0232 a0002c0001t0002g0333 a0002c0001t0004g0022 a0002c0001t0004g0023 a0002c0001t0004g0317 a0003c0004t0001g0024 a0003c0004t0001g0028 a0003c0004t0001g0029 a0003c0004t0001g0030 a0003c0004t0001g0033 a0003c0004t0001g0062 a0003c0004t0001g0143 a0003c0004t0001g0180 a0003c0004t0001g0235 a0003c0004t0001g0287 a0003c0004t0001g0334 a0003c0004t0001g0339 a0003c0032t0001g0188 a0003c0032t0001g0214 a0003c0032t0001g0253 a0003c0126t0001g0249 a0006c0003t0001g0137 a0006c0003t0001g0142 a0006c0003t0001g0150 a0006c0003t0001g0244 a0006c0003t0001g0254 a0006c0003t0001g0255 a0006c0003t0001g0306 a0006c0003t0002g0149 a0006c0003t0002g0234 a0006c0003t0003g0177 a0007c0019t0001g0042 a0007c0019t0004g0091 a0007c0159t0008g0016 a0008c0008t0001g0354 a0008c0008t0002g0217 a0010c0013t0001g0198 a0010c0013t0003g0195 a0010c0013t0003g0196 a0010c0013t0003g0344 a0011c0025t0002g0138 a0012c0009t0001g0215 a0012c0009t0001g0216 a0012c0009t0001g0218 a0012c0009t0001g0219 a0012c0009t0001g0271 a0012c0009t0001g0323 a0012c0157t0006g0012 a0013c0070t0002g0155 a0014c0012t0002g0136 a0014c0012t0003g0144 a0014c0012t0003g0151 a0014c0012t0003g0319 a0015c0011t0001g0148 a0015c0011t0002g0236 a0015c0011t0002g0240 a0015c0011t0002g0242 a0015c0011t0002g0243 a0016c0014t0004g0060 a0016c0014t0004g0061 a0019c0015t0002g0324 a0019c0015t0003g0134 a0019c0015t0003g0145 a0019c0015t0003g0152 a0019c0015t0003g0179 a0026c0124t0002g0241 a0033c0030t0002g0135 a0033c0030t0002g0222 a0038c0043t0001g0192 a0038c0043t0003g0269 a0038c0156t0007g0014 a0049c0054t0001g0095 a0049c0054t0004g0096 a0050c0051t0001g0220 a0051c0050t0004g0119 a0056c0042t0001g0345 a0056c0042t0001g0346 a0057c0078t0002g0193 a0058c0044t0001g0267 a0062c0145t0001g0316 a0070c0083t0001g0201 a0071c0084t0005g0073 a0076c0088t0004g0069 a0081c0104t0003g0037 a0089c0135t0001g0079 a0095c0125t0001g0140 a0096c0112t0001g0190 a0098c0127t0001g0250 a0099c0119t0002g0278 a0101c0121t0003g0202 a0104c0132t0003g0303 a0105c0129t0001g0212 a0106c0109t0001g0146 a0107c0077t0002g0300 a0108c0076t0001g0223 a0109c0075t0015g0172	102	362	0.2818	-22	c.964 others(41): Show c.964+12498_964+12519delGTGTGCGTGCACACACACACAC	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	3/47			chr9	TogoVar
SVIL_chr10_29452338_29639971	29506605	AAGGCCCT others(15): Show AAGGCCCTAGAGGGAGGGGACAG	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA19060.hp2 HG02165.hp1 NA19060.hp2	a0002 a0020 a0002 a0020	a0002c0001 a0020c0024 a0002c0001 a0020c0024	a0002c0001t0002 a0020c0024t0002 a0002c0001t0002 a0020c0024t0002	a0002c0001t0002g0153 a0020c0024t0002g0065 a0002c0001t0002g0153 a0020c0024t0002g0065	2	290	0.0069	-22	c.351 others(41): Show c.3516+6108_3516+6129delCTGTCCCCTCCCTCTAGGGCCT	SVIL	ENSG00000197321.16	transcript	ENST00000355867.9	protein_coding	17/37			chr10	TogoVar
SVIL_chr10_29452338_29639971	29506729	AGGAGGGG others(15): Show AGGAGGGGACAGAGGCCCTAGAG	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG04204.hp1 HG03834.hp2 HG04204.hp1	a0004 a0009 a0004 a0009	a0004c0006 a0009c0036 a0004c0006 a0009c0036	a0004c0006t0003 a0009c0036t0003 a0004c0006t0003 a0009c0036t0003	a0004c0006t0003g0053 a0009c0036t0003g0182 a0004c0006t0003g0053 a0009c0036t0003g0182	2	290	0.0069	-22	c.351 others(41): Show c.3516+5984_3516+6005delCTCTAGGGCCTCTGTCCCCTCC	SVIL	ENSG00000197321.16	transcript	ENST00000355867.9	protein_coding	17/37			chr10	TogoVar
SVIL_chr10_29452338_29639971	29509330	GGAGAGAG others(15): Show GGAGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01243.hp1 HG02055.hp2 others(3): Show HG01106.hp1 HG01243.hp1 HG02055.hp2 HG02922.hp2 HG03225.hp2 NA19240.hp1	a0001 a0017 a0023 others(1): Show a0001 a0017 a0023 a0048	a0001c0130 a0017c0020 a0023c0118 others(1): Show a0001c0130 a0017c0020 a0023c0118 a0048c0105	a0001c0130t0003 a0017c0020t0005 a0023c0118t0001 others(1): Show a0001c0130t0003 a0017c0020t0005 a0023c0118t0001 a0048c0105t0002	a0001c0130t0003g0270 a0017c0020t0005g0017 a0017c0020t0005g0160 others(3): Show a0001c0130t0003g0270 a0017c0020t0005g0017 a0017c0020t0005g0160 a0017c0020t0005g0230 a0023c0118t0001g0009 a0048c0105t0002g0083	6	290	0.0207	-22	c.351 others(41): Show c.3516+3383_3516+3404delTCTCTCTCTCTCTCTCTCTCTC	SVIL	ENSG00000197321.16	transcript	ENST00000355867.9	protein_coding	17/37			chr10	TogoVar
SWAP70_chr11_9659077_9757993	9675324	AGAGAGAG others(15): Show AGAGAGAGAGAGAGAGAGGGAGC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp2 HG01109.hp2 others(23): Show HG00323.hp2 HG00733.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01993.hp1 HG02080.hp2 HG02257.hp2 HG02258.hp2 HG02486.hp1 HG02647.hp2 HG02698.hp1 HG03490.hp1 HG03654.hp2 HG03704.hp1 NA18945.hp2 NA18968.hp1 NA18968.hp2 NA18977.hp2 NA18983.hp1 NA18998.hp1 NA19030.hp1 NA19076.hp1 NA19088.hp2 NA19240.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0002c0004	a0001c0002t0002 a0001c0002t0030 a0001c0003t0003 others(3): Show a0001c0002t0002 a0001c0002t0030 a0001c0003t0003 a0002c0001t0001 a0002c0004t0001 a0002c0004t0020	a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 others(23): Show a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0137 a0001c0002t0002g0143 a0001c0002t0002g0162 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0244 a0001c0002t0002g0264 a0001c0002t0002g0290 a0001c0002t0030g0167 a0001c0003t0003g0106 a0002c0001t0001g0031 a0002c0001t0001g0032 a0002c0001t0001g0038 a0002c0001t0001g0084 a0002c0001t0001g0101 a0002c0001t0001g0252 a0002c0001t0001g0261 a0002c0004t0001g0116 a0002c0004t0001g0124 a0002c0004t0001g0188 a0002c0004t0020g0190	26	294	0.0884	-22	c.99+ others(39): Show c.99+11064_99+11085delGGAGCGAGAGAGAGAGAGAGAG	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9725551	ATATATAT others(15): Show ATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(14): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG01099.hp1 HG01123.hp2 HG01257.hp2 HG01258.hp2 HG01515.hp2 HG02055.hp1 HG02698.hp2 HG03490.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp2 NA19064.hp1 NA19076.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0018 a0002c0001t0022 a0002c0001t0001 a0002c0001t0018 a0002c0001t0022	a0002c0001t0001g0034 a0002c0001t0001g0266 a0002c0001t0001g0268 others(14): Show a0002c0001t0001g0034 a0002c0001t0001g0266 a0002c0001t0001g0268 a0002c0001t0001g0269 a0002c0001t0001g0270 a0002c0001t0001g0271 a0002c0001t0001g0272 a0002c0001t0001g0273 a0002c0001t0001g0275 a0002c0001t0001g0281 a0002c0001t0001g0283 a0002c0001t0001g0284 a0002c0001t0001g0285 a0002c0001t0001g0286 a0002c0001t0001g0288 a0002c0001t0018g0033 a0002c0001t0022g0277	17	294	0.0578	-22	c.642 others(37): Show c.642+668_642+689delATATATATATATATATATTTTT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9725553	ATATATAT others(15): Show ATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01258.hp1 HG03239.hp1 others(3): Show HG01167.hp1 HG01258.hp1 HG03239.hp1 HG03669.hp1 NA19006.hp1 NA19240.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0035 a0002c0001t0001g0074 a0002c0001t0001g0100 others(3): Show a0002c0001t0001g0035 a0002c0001t0001g0074 a0002c0001t0001g0100 a0002c0001t0001g0267 a0002c0001t0001g0274 a0002c0001t0001g0287	6	294	0.0204	-22	c.642 others(37): Show c.642+670_642+691delATATATATATATATATTTTTTT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWI5_chr9_128271276_128293989	128291978	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19043.hp2 NA19009.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0233 a0001c0001t0001g0134 a0001c0001t0001g0233	2	386	0.0052	-22	c.32 others(33): Show c.3263_*3284delAAAAAAAAAAAAAAAAAAAAAA	SWI5	ENSG00000175854.15	transcript	ENST00000418976.3	protein_coding		2990		chr9	TogoVar
SYCE1_chr10_133549847_133570583	133562261	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00741.hp2 others(24): Show HG00140.hp2 HG00323.hp1 HG00741.hp2 HG01175.hp2 HG01346.hp2 HG02129.hp1 HG02683.hp1 HG03516.hp1 HG03704.hp1 HG03710.hp2 HG03942.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18951.hp1 NA18968.hp1 NA18973.hp1 NA18975.hp1 NA18984.hp2 NA18995.hp2 NA18998.hp2 NA19006.hp1 NA19077.hp2 NA19081.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0104 a0002c0002t0002g0004 a0002c0002t0002g0010 others(3): Show a0001c0001t0001g0104 a0002c0002t0002g0004 a0002c0002t0002g0010 a0002c0002t0002g0028 a0002c0002t0002g0047 a0002c0002t0002g0048	27	384	0.0703	-22	c.74- others(37): Show c.74-2130_74-2109delCACACACACACACACACACACA	SYCE1	ENSG00000171772.17	transcript	ENST00000343131.7	protein_coding	1/12			chr10	TogoVar
SYCP2L_chr6_10882052_10979309	10888066	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG02451.hp2 others(28): Show HG01243.hp2 HG01891.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02647.hp1 HG02818.hp2 HG02886.hp1 HG02976.hp1 HG02976.hp2 HG03579.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18953.hp1 NA18953.hp2 NA18965.hp1 NA18968.hp1 NA18969.hp2 NA18978.hp2 NA18980.hp2 NA18988.hp1 NA19058.hp1 NA19058.hp2 NA19065.hp2 NA19070.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0003 a0003c0004 others(1): Show a0001c0001 a0002c0003 a0003c0004 a0006c0010	a0001c0001t0002 a0002c0003t0001 a0002c0003t0002 others(2): Show a0001c0001t0002 a0002c0003t0001 a0002c0003t0002 a0003c0004t0001 a0006c0010t0001	a0001c0001t0002g0165 a0002c0003t0001g0287 a0002c0003t0001g0288 others(27): Show a0001c0001t0002g0165 a0002c0003t0001g0287 a0002c0003t0001g0288 a0002c0003t0001g0289 a0002c0003t0001g0292 a0002c0003t0001g0293 a0002c0003t0001g0294 a0002c0003t0001g0299 a0002c0003t0001g0301 a0002c0003t0001g0302 a0002c0003t0001g0304 a0002c0003t0001g0305 a0002c0003t0001g0306 a0002c0003t0001g0307 a0002c0003t0001g0308 a0002c0003t0001g0309 a0002c0003t0001g0310 a0002c0003t0001g0312 a0002c0003t0002g0295 a0002c0003t0002g0296 a0002c0003t0002g0297 a0002c0003t0002g0298 a0002c0003t0002g0303 a0002c0003t0002g0313 a0002c0003t0002g0314 a0003c0004t0001g0004 a0006c0010t0001g0290 a0006c0010t0001g0291 a0006c0010t0001g0300 a0006c0010t0001g0311	31	354	0.0876	-22	c.9+9 others(33): Show c.9+958_9+979delTTTTTTTTTTTTTTTTTTTTTT	SYCP2L	ENSG00000153157.14	transcript	ENST00000283141.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYCP2L_chr6_10882052_10979309	10891609	CTCTCTGT others(15): Show CTCTCTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01261.hp2 HG01123.hp2 HG01261.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0170 a0001c0018t0001g0188 a0001c0018t0001g0170 a0001c0018t0001g0188	2	354	0.0057	-22	c.78+ others(33): Show c.78+30_78+51delCTCTGTGTGTGTGTGTGTGTGT	SYCP2L	ENSG00000153157.14	transcript	ENST00000283141.11	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYCP2L_chr6_10882052_10979309	10967454	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02486.hp2 HG02976.hp1 others(3): Show HG01361.hp2 HG02486.hp2 HG02976.hp1 HG03098.hp1 HG03209.hp2 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0013 a0002c0003 a0001c0001 a0001c0013 a0002c0003	a0001c0001t0001 a0001c0013t0001 a0002c0003t0001 a0001c0001t0001 a0001c0013t0001 a0002c0003t0001	a0001c0001t0001g0133 a0001c0001t0001g0151 a0001c0001t0001g0152 others(3): Show a0001c0001t0001g0133 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0321 a0001c0013t0001g0040 a0002c0003t0001g0304	6	354	0.0170	-22	c.37 others(39): Show c.37+3632_*37+3653delGTGTGTGTGTGTGTGTGTGTGT	SYCP2L	ENSG00000153157.14	transcript	ENST00000283141.11	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYCP2_chr20_59858571_59938637	59876369	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02083.hp1 NA19088.hp2 HG02040.hp2 HG02083.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0051 a0001c0001t0001g0123 a0001c0001t0001g0125	3	276	0.0109	-22	c.315 others(39): Show c.3151-922_3151-901delTTTTTTTTTTTTTTTTTTTTTT	SYCP2	ENSG00000196074.13	transcript	ENST00000357552.8	protein_coding	33/44			chr20	TogoVar
SYCP2_chr20_59858571_59938637	59879818	AATAAATA others(15): Show AATAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03471.hp2 NA18522.hp1 others(1): Show HG02647.hp1 HG03471.hp2 NA18522.hp1 NA20300.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0005c0010 a0001c0001 a0001c0004 a0005c0010	a0001c0001t0001 a0001c0004t0001 a0005c0010t0001 a0001c0001t0001 a0001c0004t0001 a0005c0010t0001	a0001c0001t0001g0031 a0001c0001t0001g0179 a0001c0004t0001g0032 others(1): Show a0001c0001t0001g0031 a0001c0001t0001g0179 a0001c0004t0001g0032 a0005c0010t0001g0060	4	276	0.0145	-22	c.294 others(39): Show c.2941+463_2941+484delATATATATATATATATATTTAT	SYCP2	ENSG00000196074.13	transcript	ENST00000357552.8	protein_coding	31/44			chr20	TogoVar
SYMPK_chr19_45810410_45868147	45864797	GAGCCGGG others(15): Show GAGCCGGGTGTTGGAGCCCCAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0115 a0001c0003t0002g0115	1	392	0.0026	-22	c.-17 others(33): Show c.-1774_-1753delTTTGGGGCTCCAACACCCGGCT	SYMPK	ENSG00000125755.19	transcript	ENST00000245934.12	protein_coding		1651		chr19	TogoVar
SYN1_chrX_47566901_47624857	47608263	GAAGGAAG others(15): Show GAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00544.hp1 others(35): Show HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00609.hp1 HG00733.hp1 HG00738.hp1 HG01069.hp1 HG01123.hp1 HG01256.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02129.hp1 HG02135.hp1 HG02148.hp2 HG02273.hp1 HG02451.hp1 HG02559.hp2 HG02735.hp1 HG02922.hp1 HG03453.hp1 HG03471.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG04228.hp1 HG06807.hp2 NA18942.hp2 NA18943.hp1 NA18951.hp2 NA18966.hp1 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0020 others(1): Show a0001c0002 a0001c0003 a0001c0020 a0002c0004	a0001c0002t0001 a0001c0002t0005 a0001c0003t0001 others(2): Show a0001c0002t0001 a0001c0002t0005 a0001c0003t0001 a0001c0020t0001 a0002c0004t0001	a0001c0002t0001g0016 a0001c0002t0001g0018 a0001c0002t0001g0019 others(35): Show a0001c0002t0001g0016 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0023 a0001c0002t0001g0025 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0001g0039 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0225 a0001c0002t0001g0232 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0248 a0001c0002t0001g0251 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0005g0242 a0001c0003t0001g0024 a0001c0020t0001g0233 a0002c0004t0001g0247 a0002c0004t0001g0259	38	282	0.1348	-22	c.378 others(39): Show c.378-1087_378-1066delTTCCTTCCTTCCTTCCTTCCTT	SYN1	ENSG00000008056.14	transcript	ENST00000295987.13	protein_coding	1/12			chrX	TogoVar
SYN2_chr3_11999388_12197032	12003811	TGTGTGTG others(15): Show TGTGTGTGCGCGCGCGCGCGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18947.hp1 NA18955.hp1 others(5): Show NA18612.hp1 NA18947.hp1 NA18955.hp1 NA18977.hp1 NA18981.hp2 NA19003.hp2 NA19057.hp2 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0068 a0002c0002t0001g0074 others(5): Show a0002c0002t0001g0060 a0002c0002t0001g0068 a0002c0002t0001g0074 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0084 a0002c0002t0001g0087 a0002c0002t0001g0094	8	264	0.0303	-22	c.-74 others(31): Show c.-740_-719delGTGTGTGCGCGCGCGCGCGCGC	SYN2	ENSG00000157152.17	transcript	ENST00000621198.5	protein_coding		576		chr3	TogoVar
SYN2_chr3_11999388_12197032	12050711	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp1 HG03041.hp1 others(2): Show HG02109.hp2 HG02280.hp1 HG03041.hp1 HG03225.hp1 NA18522.hp2	a0003 a0006 a0003 a0006	a0003c0003 a0006c0006 a0003c0003 a0006c0006	a0003c0003t0001 a0006c0006t0001 a0003c0003t0001 a0006c0006t0001	a0003c0003t0001g0029 a0003c0003t0001g0051 a0006c0006t0001g0025 others(2): Show a0003c0003t0001g0029 a0003c0003t0001g0051 a0006c0006t0001g0025 a0006c0006t0001g0026 a0006c0006t0001g0027	5	264	0.0189	-22	c.377 others(41): Show c.377+45797_377+45818delTTTTTTTTTTTTTTTTTTTTTT	SYN2	ENSG00000157152.17	transcript	ENST00000621198.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYN3_chr22_32502820_33063381	32585978	ATATGTAT others(15): Show ATATGTATGTATACGTATATATG	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0131 a0001c0001t0012g0131	1	184	0.0054	-22	c.774 others(41): Show c.774+10674_774+10695delCATATATACGTATACATACATA	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	7/13			chr22	TogoVar
SYN3_chr22_32502820_33063381	32825657	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02622.hp1 HG01081.hp2 HG02622.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0071 a0001c0001t0001 a0002c0002t0071	a0001c0001t0001g0011 a0002c0002t0071g0155 a0001c0001t0001g0011 a0002c0002t0071g0155	2	184	0.0109	-22	c.711 others(41): Show c.711+39236_711+39257delTTTTTTTTTTTTTTTTTTTTTT	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13			chr22	TogoVar
SYN3_chr22_32502820_33063381	33040130	TTTTTTTG others(15): Show TTTTTTTGTATTTTTAATATATA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp2 HG01109.hp2 HG00323.hp2 HG00741.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0070 a0001c0001t0002 a0001c0001t0006 a0001c0001t0070	a0001c0001t0002g0018 a0001c0001t0006g0046 a0001c0001t0070g0006 a0001c0001t0002g0018 a0001c0001t0006g0046 a0001c0001t0070g0006	3	184	0.0163	-22	c.-16 others(43): Show c.-163+18140_-163+18161delTATATATTAAAAATACAAAAAA	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	1/13			chr22	TogoVar
SYNDIG1_chr20_24464629_24671616	24512108	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03942.hp1 HG03239.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0201 a0001c0001t0001g0097 a0001c0001t0001g0201	2	270	0.0074	-22	c.-78 others(41): Show c.-78-30887_-78-30866delATATATATATATATATATATAT	SYNDIG1	ENSG00000101463.6	transcript	ENST00000376862.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
SYNE1_chr6_152116687_152642362	152186556	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0005 a0005	a0005c0062 a0005c0062	a0005c0062t0012 a0005c0062t0012	a0005c0062t0012g0128 a0005c0062t0012g0128	1	174	0.0058	-22	c.233 others(43): Show c.23301+2674_23301+2695delTTTTTTTTTTTTTTTTTTTTTT	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	128/145			chr6	TogoVar
SYNE1_chr6_152116687_152642362	152188984	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0088 a0088	a0088c0106 a0088c0106	a0088c0106t0004 a0088c0106t0004	a0088c0106t0004g0013 a0088c0106t0004g0013	1	174	0.0058	-22	c.233 others(41): Show c.23301+246_23301+267delATATATATATATATATATATAT	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	128/145			chr6	TogoVar
SYNE1_chr6_152116687_152642362	152253813	GTTTGGTT others(15): Show GTTTGGTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02083.hp1 HG02083.hp2 others(1): Show HG01978.hp2 HG02083.hp1 HG02083.hp2 NA18995.hp1	a0008 a0020 a0096 others(1): Show a0008 a0020 a0096 a0105	a0008c0006 a0020c0004 a0096c0140 others(1): Show a0008c0006 a0020c0004 a0096c0140 a0105c0132	a0008c0006t0003 a0020c0004t0006 a0096c0140t0019 others(1): Show a0008c0006t0003 a0020c0004t0006 a0096c0140t0019 a0105c0132t0003	a0008c0006t0003g0080 a0020c0004t0006g0160 a0096c0140t0019g0143 others(1): Show a0008c0006t0003g0080 a0020c0004t0006g0160 a0096c0140t0019g0143 a0105c0132t0003g0043	4	174	0.0230	-22	c.194 others(43): Show c.19470+1045_19470+1066delAAAAAAAAAAAAAAAAACCAAA	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	104/145			chr6	TogoVar
SYNE1_chr6_152116687_152642362	152253817	GGTTTTTT others(15): Show GGTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA19066.hp2 HG03225.hp2 NA19066.hp2	a0024 a0074 a0024 a0074	a0024c0163 a0074c0028 a0024c0163 a0074c0028	a0024c0163t0003 a0074c0028t0003 a0024c0163t0003 a0074c0028t0003	a0024c0163t0003g0106 a0074c0028t0003g0039 a0024c0163t0003g0106 a0074c0028t0003g0039	2	174	0.0115	-22	c.194 others(43): Show c.19470+1041_19470+1062delAAAAAAAAAAAAAAAAAAAAAC	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	104/145			chr6	TogoVar
SYNE1_chr6_152116687_152642362	152604984	GAAAGAAA others(15): Show GAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0047 a0047	a0047c0166 a0047c0166	a0047c0166t0002 a0047c0166t0002	a0047c0166t0002g0055 a0047c0166t0002g0055	1	174	0.0058	-22	c.67+ others(39): Show c.67+23259_67+23280delTTCTTTCTTTCTTTCTTTCTTT	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	3/145			chr6	TogoVar
SYNE1_chr6_152116687_152642362	152604986	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02129.hp2 HG02896.hp1 others(1): Show HG01884.hp2 HG02129.hp2 HG02896.hp1 HG03540.hp1	a0004 a0010 a0067 others(1): Show a0004 a0010 a0067 a0072	a0004c0092 a0010c0023 a0067c0095 others(1): Show a0004c0092 a0010c0023 a0067c0095 a0072c0088	a0004c0092t0001 a0010c0023t0004 a0067c0095t0002 others(1): Show a0004c0092t0001 a0010c0023t0004 a0067c0095t0002 a0072c0088t0006	a0004c0092t0001g0028 a0010c0023t0004g0056 a0067c0095t0002g0096 others(1): Show a0004c0092t0001g0028 a0010c0023t0004g0056 a0067c0095t0002g0096 a0072c0088t0006g0136	4	174	0.0230	-22	c.67+ others(39): Show c.67+23257_67+23278delCTTTCTTTCTTTCTTTCTTTCT	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	3/145			chr6	TogoVar
SYNE1_chr6_152116687_152642362	152604998	AAGAAAGA others(15): Show AAGAAAGAAAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0073 a0073	a0073c0076 a0073c0076	a0073c0076t0013 a0073c0076t0013	a0073c0076t0013g0002 a0073c0076t0013g0002	1	174	0.0058	-22	c.67+ others(39): Show c.67+23245_67+23266delCTCTCTCTCTCTCTTTCTTTCT	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	3/145			chr6	TogoVar
SYNE2_chr14_63848004_64231433	63974886	GTGTGTGT others(15): Show GTGTGTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0046 a0046	a0046c0074 a0046c0074	a0046c0074t0003 a0046c0074t0003	a0046c0074t0003g0022 a0046c0074t0003g0022	1	150	0.0067	-22	c.112 others(41): Show c.1129-1675_1129-1654delGTGTGTATATATATATATATAT	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	11/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE2_chr14_63848004_64231433	63974892	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01257.hp1 HG02129.hp1 others(7): Show HG00738.hp1 HG01257.hp1 HG02129.hp1 HG02965.hp1 HG03195.hp1 HG03490.hp1 HG04184.hp2 NA18939.hp2 NA18986.hp1 NA19043.hp2	a0001 a0013 a0031 others(3): Show a0001 a0013 a0031 a0032 a0048 a0054	a0001c0004 a0001c0005 a0001c0009 others(6): Show a0001c0004 a0001c0005 a0001c0009 a0001c0018 a0013c0032 a0031c0081 a0032c0082 a0048c0047 a0054c0060	a0001c0004t0003 a0001c0005t0002 a0001c0009t0003 others(6): Show a0001c0004t0003 a0001c0005t0002 a0001c0009t0003 a0001c0018t0001 a0013c0032t0001 a0031c0081t0004 a0032c0082t0001 a0048c0047t0002 a0054c0060t0008	a0001c0004t0003g0071 a0001c0005t0002g0044 a0001c0009t0003g0027 others(7): Show a0001c0004t0003g0071 a0001c0005t0002g0044 a0001c0009t0003g0027 a0001c0018t0001g0026 a0001c0018t0001g0065 a0013c0032t0001g0103 a0031c0081t0004g0041 a0032c0082t0001g0100 a0048c0047t0002g0090 a0054c0060t0008g0024	10	150	0.0667	-22	c.112 others(41): Show c.1129-1667_1129-1646delATATATATATATATATATATAT	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	11/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNJ1_chr21_32623763_32733013	32713302	ATCAACAT others(15): Show ATCAACATGGATGATTTCCCATG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02630.hp1 HG02647.hp2 others(3): Show HG02055.hp1 HG02630.hp1 HG02647.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0044 a0003c0003t0003g0149 a0003c0003t0003g0150 others(3): Show a0003c0003t0003g0044 a0003c0003t0003g0149 a0003c0003t0003g0150 a0003c0003t0003g0151 a0003c0003t0003g0152 a0003c0003t0003g0153	6	346	0.0173	-22	c.125 others(41): Show c.125-11277_125-11256delCATGGGAAATCATCCATGTTGA	SYNJ1	ENSG00000159082.18	transcript	ENST00000674351.1	protein_coding	2/32			chr21	TogoVar
SYNJ2_chr6_157976863_158104176	157989427	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0248 a0002c0004t0007g0248	1	312	0.0032	-22	c.127 others(39): Show c.127+7358_127+7379delATATATATATATATATATATAT	SYNJ2	ENSG00000078269.15	transcript	ENST00000355585.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYNJ2_chr6_157976863_158104176	158000064	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	312	0.0032	-22	c.128 others(41): Show c.128-17122_128-17101delTTTTTTTTTTTTTTTTTTTTTT	SYNJ2	ENSG00000078269.15	transcript	ENST00000355585.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYNPO2_chr4_118883854_119066247	118894551	GTCGGGGG others(15): Show GTCGGGGGAACGTCGGGGGAACA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(112): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00621.hp2 HG00639.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01934.hp1 HG01975.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02630.hp1 HG02647.hp1 HG02809.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp2 NA18939.hp2 NA18943.hp2 NA18945.hp1 NA18948.hp1 NA18953.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18968.hp2 NA18971.hp2 NA18972.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp2 NA18990.hp2 NA18995.hp2 NA18998.hp2 NA19004.hp1 NA19006.hp2 NA19007.hp2 NA19011.hp1 NA19056.hp1 NA19060.hp1 NA19063.hp2 NA19070.hp2 NA19078.hp1 NA19079.hp1 NA19082.hp1 NA19085.hp1 NA19086.hp1 NA19240.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0015 a0018 a0019 a0022 a0026	a0001c0001 a0001c0005 a0001c0017 others(23): Show a0001c0001 a0001c0005 a0001c0017 a0002c0003 a0002c0004 a0002c0019 a0003c0002 a0003c0006 a0004c0007 a0004c0008 a0005c0009 a0005c0016 a0005c0038 a0006c0014 a0006c0015 a0007c0010 a0007c0037 a0008c0011 a0009c0012 a0011c0018 a0011c0026 a0015c0031 a0018c0028 a0019c0029 a0022c0036 a0026c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(52): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0037 a0001c0005t0001 a0001c0005t0053 a0001c0017t0001 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0007 a0002c0003t0010 a0002c0003t0022 a0002c0003t0024 a0002c0003t0045 a0002c0003t0052 a0002c0004t0001 a0002c0004t0004 a0002c0004t0005 a0002c0004t0007 a0002c0019t0010 a0003c0002t0001 a0003c0002t0002 a0003c0002t0003 a0003c0002t0006 a0003c0002t0008 a0003c0002t0016 a0003c0002t0038 a0003c0006t0001 a0004c0007t0001 a0004c0007t0019 a0004c0007t0041 a0004c0008t0001 a0004c0008t0002 a0005c0009t0003 a0005c0009t0009 a0005c0009t0024 a0005c0016t0006 a0005c0016t0029 a0005c0038t0001 a0006c0014t0043 a0006c0014t0051 a0006c0015t0001 a0006c0015t0004 a0007c0010t0020 a0007c0037t0020 a0008c0011t0015 a0009c0012t0006 a0011c0018t0021 a0011c0026t0011 a0015c0031t0004 a0018c0028t0003 a0019c0029t0009 a0022c0036t0026 a0026c0022t0047	a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0078 others(112): Show a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0096 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0141 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0002g0092 a0001c0001t0002g0117 a0001c0001t0002g0130 a0001c0001t0002g0157 a0001c0001t0012g0065 a0001c0001t0012g0148 a0001c0001t0037g0162 a0001c0005t0001g0060 a0001c0005t0001g0061 a0001c0005t0001g0093 a0001c0005t0001g0126 a0001c0005t0001g0127 a0001c0005t0001g0128 a0001c0005t0001g0133 a0001c0005t0001g0142 a0001c0005t0053g0002 a0001c0017t0001g0055 a0002c0003t0001g0070 a0002c0003t0001g0149 a0002c0003t0003g0062 a0002c0003t0003g0098 a0002c0003t0003g0099 a0002c0003t0003g0103 a0002c0003t0003g0104 a0002c0003t0003g0145 a0002c0003t0003g0146 a0002c0003t0004g0067 a0002c0003t0007g0094 a0002c0003t0007g0293 a0002c0003t0010g0154 a0002c0003t0022g0073 a0002c0003t0022g0140 a0002c0003t0024g0165 a0002c0003t0045g0160 a0002c0003t0052g0001 a0002c0004t0001g0076 a0002c0004t0001g0082 a0002c0004t0001g0143 a0002c0004t0004g0054 a0002c0004t0004g0069 a0002c0004t0004g0086 a0002c0004t0004g0100 a0002c0004t0004g0120 a0002c0004t0005g0089 a0002c0004t0005g0097 a0002c0004t0007g0059 a0002c0019t0010g0064 a0003c0002t0001g0074 a0003c0002t0001g0075 a0003c0002t0001g0083 a0003c0002t0001g0087 a0003c0002t0001g0102 a0003c0002t0001g0132 a0003c0002t0001g0138 a0003c0002t0002g0052 a0003c0002t0002g0081 a0003c0002t0002g0088 a0003c0002t0002g0095 a0003c0002t0003g0084 a0003c0002t0006g0072 a0003c0002t0006g0077 a0003c0002t0008g0122 a0003c0002t0016g0058 a0003c0002t0016g0105 a0003c0002t0016g0113 a0003c0002t0038g0124 a0003c0006t0001g0109 a0003c0006t0001g0116 a0003c0006t0001g0131 a0003c0006t0001g0144 a0003c0006t0001g0151 a0004c0007t0001g0071 a0004c0007t0001g0125 a0004c0007t0001g0135 a0004c0007t0019g0053 a0004c0007t0041g0129 a0004c0008t0001g0079 a0004c0008t0001g0111 a0004c0008t0001g0121 a0004c0008t0002g0110 a0005c0009t0003g0056 a0005c0009t0009g0161 a0005c0009t0024g0159 a0005c0016t0006g0108 a0005c0016t0029g0107 a0005c0038t0001g0163 a0006c0014t0043g0119 a0006c0014t0051g0153 a0006c0015t0001g0137 a0006c0015t0004g0090 a0007c0010t0020g0063 a0007c0010t0020g0106 a0007c0037t0020g0003 a0008c0011t0015g0134 a0009c0012t0006g0147 a0011c0018t0021g0164 a0011c0026t0011g0091 a0015c0031t0004g0152 a0018c0028t0003g0136 a0019c0029t0009g0158 a0022c0036t0026g0118 a0026c0022t0047g0057	115	310	0.3710	-22	c.105 others(39): Show c.105+5413_105+5434delGGGGGAACGTCGGGGGAACATC	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPO2_chr4_118883854_119066247	118900689	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTATATATA	C C	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0148 a0001c0001t0012g0148	1	310	0.0032	-22	c.105 others(41): Show c.105+11550_105+11571delCTCTCTCTCTCTCTATATATAT	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPO2_chr4_118883854_119066247	118900691	CTCTCTCT others(15): Show CTCTCTCTCTCTCTATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0046 a0002c0004t0005g0046	1	310	0.0032	-22	c.105 others(41): Show c.105+11552_105+11573delCTCTCTCTCTCTATATATATAT	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPO2_chr4_118883854_119066247	118964297	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0148 a0001c0001t0012g0148	1	310	0.0032	-22	c.106 others(41): Show c.106-59110_106-59089delACACACACACACACACACACAC	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPO2_chr4_118883854_119066247	119007231	TATATATA others(15): Show TATATATATATATATGTATATAC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01168.hp1 HG01169.hp1 others(19): Show HG00733.hp1 HG01168.hp1 HG01169.hp1 HG01361.hp1 HG01515.hp2 HG02109.hp2 HG02129.hp2 HG02258.hp1 HG02451.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG03195.hp2 HG03540.hp2 HG04204.hp1 HG04228.hp2 NA18961.hp2 NA19007.hp1 NA19030.hp1 NA19060.hp2 NA19078.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0013	a0001c0001 a0002c0003 a0002c0004 others(10): Show a0001c0001 a0002c0003 a0002c0004 a0002c0023 a0003c0002 a0003c0006 a0004c0007 a0005c0009 a0005c0016 a0006c0015 a0008c0011 a0009c0012 a0013c0021	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 others(17): Show a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0002c0003t0007 a0002c0003t0019 a0002c0003t0048 a0002c0004t0001 a0002c0004t0007 a0002c0023t0001 a0003c0002t0006 a0003c0006t0001 a0004c0007t0001 a0004c0007t0010 a0005c0009t0007 a0005c0009t0009 a0005c0016t0006 a0006c0015t0004 a0008c0011t0015 a0009c0012t0039 a0013c0021t0001	a0001c0001t0001g0123 a0001c0001t0002g0200 a0002c0003t0001g0149 others(19): Show a0001c0001t0001g0123 a0001c0001t0002g0200 a0002c0003t0001g0149 a0002c0003t0007g0213 a0002c0003t0019g0047 a0002c0003t0048g0262 a0002c0004t0001g0227 a0002c0004t0007g0059 a0002c0023t0001g0260 a0003c0002t0006g0305 a0003c0002t0006g0307 a0003c0006t0001g0051 a0003c0006t0001g0144 a0004c0007t0001g0135 a0004c0007t0010g0005 a0005c0009t0007g0235 a0005c0009t0009g0296 a0005c0016t0006g0212 a0006c0015t0004g0229 a0008c0011t0015g0134 a0009c0012t0039g0217 a0013c0021t0001g0286	22	310	0.0710	-22	c.106 others(41): Show c.106-16184_106-16163delGTATATACATATATATATATAT	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPO2_chr4_118883854_119066247	119061994	TGCACCCA others(15): Show TGCACCCATTAACACGTCATTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18963.hp1 NA19011.hp1 NA18956.hp2 NA18963.hp1 NA19011.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0074 a0003c0002t0001g0087 a0003c0002t0001g0102 a0003c0002t0001g0074 a0003c0002t0001g0087 a0003c0002t0001g0102	3	310	0.0097	-22	c.40 others(33): Show c.4061_*4082delGCACCCATTAACACGTCATTTA	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding		748		chr4	TogoVar

Search by Variant

Search

Search Results (Total: 9631 hits)