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
AGTPBP1_chr9_85541539_85746954	85572002	GTGTTTTT others(15): Show GTGTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18978.hp2 NA18989.hp1 others(1): Show HG04204.hp2 NA18978.hp2 NA18989.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0023 a0001c0001t0001g0093 a0001c0001t0001g0102 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0004g0113	4	302	0.0133	-22	c.350 others(41): Show c.3503+3291_3503+3312delAAAAAAAAAAAAAAAAAAAACA	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	25/25			chr9	TogoVar
AGXT2_chr5_34993102_35052949	35028558	TGAGAGAG others(15): Show TGAGAGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp1 HG02976.hp1 others(4): Show HG02055.hp1 HG02486.hp1 HG02976.hp1 HG03453.hp1 HG06807.hp2 NA20905.hp2 NA21309.hp2	a0003 a0006 a0010 others(1): Show a0003 a0006 a0010 a0011	a0003c0006 a0006c0007 a0010c0010 others(1): Show a0003c0006 a0006c0007 a0010c0010 a0011c0011	a0003c0006t0002 a0006c0007t0001 a0006c0007t0003 others(3): Show a0003c0006t0002 a0006c0007t0001 a0006c0007t0003 a0006c0007t0004 a0010c0010t0003 a0011c0011t0001	a0003c0006t0002g0126 a0006c0007t0001g0022 a0006c0007t0001g0063 others(4): Show a0003c0006t0002g0126 a0006c0007t0001g0022 a0006c0007t0001g0063 a0006c0007t0003g0042 a0006c0007t0004g0354 a0010c0010t0003g0159 a0011c0011t0001g0129	7	384	0.0182	-22	c.770 others(39): Show c.770-2070_770-2049delTCTCTCTCTCTCTCTCTCTCTC	AGXT2	ENSG00000113492.14	transcript	ENST00000231420.11	protein_coding	7/13			chr5	TogoVar
AIDA_chr1_222663013_222717491	222689479	GTGTATAT others(15): Show GTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	368	0.0027	-22	c.290 others(39): Show c.290-1843_290-1822delTATATATATATATATATATACA	AIDA	ENSG00000186063.13	transcript	ENST00000340020.11	protein_coding	4/9			chr1	TogoVar
AIFM2_chr10_70107271_70137825	70133098	AAGAGAGA others(15): Show AAGAGAGAGAGAGAGAGAGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00558.hp2 others(47): Show HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00673.hp2 HG01109.hp2 HG01123.hp1 HG01361.hp2 HG01891.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02080.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02486.hp1 HG02717.hp1 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp2 HG04228.hp1 NA18906.hp1 NA18939.hp2 NA18942.hp1 NA18951.hp1 NA18964.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18979.hp2 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18989.hp2 NA18990.hp1 NA18994.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19012.hp2 NA19058.hp2 NA19068.hp2 NA19076.hp2 NA19088.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0009 a0001c0012 a0001c0019 a0002c0004 a0002c0007 a0003c0003	a0001c0001t0001 a0001c0002t0003 a0001c0002t0040 others(9): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0040 a0001c0005t0001 a0001c0005t0010 a0001c0006t0006 a0001c0009t0004 a0001c0012t0010 a0001c0019t0001 a0002c0004t0001 a0002c0007t0003 a0003c0003t0004	a0001c0001t0001g0028 a0001c0001t0001g0156 a0001c0001t0001g0160 others(36): Show a0001c0001t0001g0028 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0002t0003g0029 a0001c0002t0003g0092 a0001c0002t0003g0093 a0001c0002t0003g0219 a0001c0002t0003g0226 a0001c0002t0040g0154 a0001c0005t0001g0170 a0001c0005t0001g0177 a0001c0005t0001g0178 a0001c0005t0010g0034 a0001c0006t0006g0168 a0001c0006t0006g0232 a0001c0006t0006g0234 a0001c0009t0004g0095 a0001c0012t0010g0231 a0001c0019t0001g0157 a0002c0004t0001g0078 a0002c0004t0001g0099 a0002c0004t0001g0163 a0002c0004t0001g0164 a0002c0004t0001g0173 a0002c0004t0001g0185 a0002c0007t0003g0008 a0002c0007t0003g0165 a0002c0007t0003g0166 a0002c0007t0003g0172 a0002c0007t0003g0184 a0002c0007t0003g0186 a0002c0007t0003g0187 a0003c0003t0004g0002 a0003c0003t0004g0088 a0003c0003t0004g0159	50	468	0.1068	-22	c.-40 others(31): Show c.-400_-379delCTCTCTCTCTCTCTCTCTCTCT	AIFM2	ENSG00000042286.15	transcript	ENST00000307864.3	protein_coding		274		chr10	TogoVar
AIG1_chr6_143055889_143346058	143196350	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0121 a0001c0001t0006g0121	1	204	0.0049	-22	c.399 others(41): Show c.399+31192_399+31213delACACACACACACACACACACAC	AIG1	ENSG00000146416.19	transcript	ENST00000357847.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
AIMP1_chr4_106311550_106354456	106350000	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG02257.hp2 NA18988.hp2 HG01257.hp1 HG02257.hp2 NA18988.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0215 a0002c0002t0002g0053 a0002c0002t0002g0206 a0001c0001t0002g0215 a0002c0002t0002g0053 a0002c0002t0002g0206	3	384	0.0078	-22	c.23 others(33): Show c.2309_*2330delAAAAAAAAAAAAAAAAAAAAAA	AIMP1	ENSG00000164022.18	transcript	ENST00000672341.1	protein_coding		545		chr4	TogoVar
AJM1_chr9_136837478_136853801	136847421	CCCAGGGC others(15): Show CCCAGGGCCGCCCCCGAGCCCCG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0001 a0001c0002t0007g0001	1	364	0.0028	-22	c.85 others(30): Show c.85_*106delGCCCCCGAGCCCCGCCAGGGCC	AJM1	ENSG00000232434.3	transcript	ENST00000436881.3	protein_coding	3/3	85	INFO_REALIGN_3_PRIME	chr9	TogoVar
AK1_chr9_127861486_127882675	127871733	TGCATCAC others(15): Show TGCATCACAGCCCCCGCAGGCCC	T T	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	426	0.0024	-22	c.324 others(35): Show c.324+68_324+89delGGGCCTGCGGGGGCTGTGATGC	AK1	ENSG00000106992.19	transcript	ENST00000644144.2	protein_coding	5/6			chr9	TogoVar
AK4_chr1_65143203_65237145	65152316	ATCTCTCT others(15): Show ATCTCTCTCTCTCTCTCTCTCTC	A A	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0195 a0002c0003t0003g0195	1	300	0.0033	-22	c.145 others(39): Show c.145+3788_145+3809delCTCTCTCTCTCTCTCTCTCTCT	AK4	ENSG00000162433.15	transcript	ENST00000327299.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77470826	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02129.hp1 HG02965.hp1 others(6): Show HG00438.hp2 HG02129.hp1 HG02965.hp1 HG03098.hp1 NA18941.hp1 NA18967.hp1 NA19009.hp1 NA19010.hp1 NA19074.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0007 a0001c0001 a0002c0002 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 a0002c0002t0002 a0004c0007t0001	a0001c0001t0001g0076 a0001c0001t0001g0108 a0001c0001t0003g0147 others(6): Show a0001c0001t0001g0076 a0001c0001t0001g0108 a0001c0001t0003g0147 a0001c0001t0004g0085 a0001c0001t0004g0093 a0001c0001t0017g0051 a0002c0002t0002g0050 a0002c0002t0002g0203 a0004c0007t0001g0215	9	284	0.0317	-22	c.106 others(43): Show c.1060-12462_1060-12441delATATATATATATATATATATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK6_chr5_69345984_69374520	69372726	CTTAGCCC others(15): Show CTTAGCCCCCCAAGTAGCTGGGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	421	0.0024	-22	c.-32 others(33): Show c.-3258_-3237delTCCCAGCTACTTGGGGGGCTAA	AK6	ENSG00000085231.14	transcript	ENST00000380822.9	protein_coding		3207		chr5	TogoVar
AKAIN1_chr18_5137911_5202257	5162625	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01081.hp2 HG01192.hp1 others(25): Show HG00621.hp1 HG01081.hp2 HG01192.hp1 HG01884.hp1 HG01891.hp1 HG01943.hp2 HG01952.hp1 HG01993.hp1 HG02055.hp1 HG02109.hp2 HG02300.hp2 HG02572.hp2 HG02647.hp1 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG06807.hp1 NA18952.hp1 NA19003.hp1 NA19056.hp1 NA19063.hp1 NA19070.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0006 a0002c0002t0019 a0002c0002t0036	a0001c0001t0001g0008 a0001c0001t0001g0211 a0001c0001t0001g0212 others(21): Show a0001c0001t0001g0008 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0218 a0001c0001t0002g0020 a0001c0001t0002g0073 a0001c0001t0002g0210 a0001c0001t0002g0214 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0226 a0001c0001t0002g0291 a0001c0001t0004g0092 a0001c0001t0004g0213 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0223 a0001c0001t0004g0224 a0002c0002t0006g0026 a0002c0002t0006g0222 a0002c0002t0006g0225 a0002c0002t0006g0284 a0002c0002t0019g0091 a0002c0002t0036g0090	28	420	0.0667	-22	c.17- others(39): Show c.17-16892_17-16871delACACACACACACACACACACAC	AKAIN1	ENSG00000231824.4	transcript	ENST00000434239.4	protein_coding	1/1			chr18	TogoVar
AKAP10_chr17_19899302_19982828	19949826	TTTCTCTC others(15): Show TTTCTCTCTCTTTTTTAACCTCA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	278	0.0036	-22	c.878 others(39): Show c.878-2343_878-2322delTGAGGTTAAAAAAGAGAGAGAA	AKAP10	ENSG00000108599.15	transcript	ENST00000225737.11	protein_coding	4/14			chr17	TogoVar
AKAP12_chr6_151234967_151363559	151304488	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02818.hp1 HG02896.hp2 others(7): Show HG02451.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG03041.hp1 HG03453.hp1 HG03471.hp2 NA19030.hp1 NA21309.hp1	a0002 a0010 a0011 others(4): Show a0002 a0010 a0011 a0014 a0016 a0020 a0037	a0002c0001 a0010c0027 a0011c0021 others(5): Show a0002c0001 a0010c0027 a0011c0021 a0011c0030 a0014c0014 a0016c0016 a0020c0047 a0037c0037	a0002c0001t0045 a0010c0027t0002 a0011c0021t0049 others(6): Show a0002c0001t0045 a0010c0027t0002 a0011c0021t0049 a0011c0030t0016 a0014c0014t0046 a0014c0014t0047 a0016c0016t0044 a0020c0047t0011 a0037c0037t0002	a0002c0001t0045g0169 a0010c0027t0002g0185 a0010c0027t0002g0186 others(7): Show a0002c0001t0045g0169 a0010c0027t0002g0185 a0010c0027t0002g0186 a0011c0021t0049g0019 a0011c0030t0016g0114 a0014c0014t0046g0168 a0014c0014t0047g0170 a0016c0016t0044g0171 a0020c0047t0011g0112 a0037c0037t0002g0032	10	316	0.0317	-22	c.163 others(39): Show c.163-1249_163-1228delAAAAAAAAAAAAAAAAAAAAAA	AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP13_chr15_85375603_85754355	85702239	TCACACAC others(15): Show TCACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA19004.hp2 NA19068.hp1 NA18991.hp2 NA19004.hp2 NA19068.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0035 a0002c0001t0007 a0002c0001t0035	a0002c0001t0007g0235 a0002c0001t0007g0258 a0002c0001t0035g0171 a0002c0001t0007g0235 a0002c0001t0007g0258 a0002c0001t0035g0171	3	314	0.0096	-22	c.546 others(41): Show c.5465-5769_5465-5748delCACACACACACACACACACACA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	17/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85748541	TTTCCTTT others(15): Show TTTCCTTTCAATGTAGCAAAGCA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01928.hp2 HG01981.hp1 HG02300.hp1 HG01928.hp2 HG01981.hp1 HG02300.hp1	a0001 a0001	a0001c0004 a0001c0012 a0001c0004 a0001c0012	a0001c0004t0023 a0001c0012t0023 a0001c0004t0023 a0001c0012t0023	a0001c0004t0023g0046 a0001c0004t0023g0047 a0001c0012t0023g0265 a0001c0004t0023g0046 a0001c0004t0023g0047 a0001c0012t0023g0265	3	314	0.0096	-22	c.38 others(33): Show c.3870_*3891delTTCAATGTAGCAAAGCATTCCT	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	37/37	3870	INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP14_chrX_119890893_119925716	119893990	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02451.hp2 HG02647.hp1 others(10): Show HG02280.hp2 HG02451.hp2 HG02647.hp1 HG02809.hp2 HG02896.hp1 HG03471.hp1 HG03491.hp1 HG03540.hp1 HG03669.hp1 HG03942.hp1 HG04204.hp1 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0015 a0001c0001t0001g0125 a0001c0001t0001g0174 others(9): Show a0001c0001t0001g0015 a0001c0001t0001g0125 a0001c0001t0001g0174 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0259 a0001c0001t0002g0225	13	304	0.0428	-22	c.-21 others(33): Show c.-2120_-2099delAAAAAAAAAAAAAAAAAAAAAA	AKAP14	ENSG00000186471.13	transcript	ENST00000371431.8	protein_coding		1902		chrX	TogoVar
AKAP6_chr14_32324298_32842684	32352081	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0012 a0006c0008t0012	a0006c0008t0012g0041 a0006c0008t0012g0041	1	154	0.0065	-22	c.-35 others(41): Show c.-35+22695_-35+22716delTTGTGTGTGTGTGTGTGTGTGT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32745461	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG03130.hp1 others(3): Show HG01109.hp2 HG01884.hp2 HG03130.hp1 HG03130.hp2 HG03516.hp2 NA19240.hp2	a0001 a0003 a0007 others(2): Show a0001 a0003 a0007 a0016 a0023	a0001c0001 a0001c0019 a0003c0003 others(3): Show a0001c0001 a0001c0019 a0003c0003 a0007c0015 a0016c0022 a0023c0041	a0001c0001t0008 a0001c0019t0001 a0003c0003t0005 others(3): Show a0001c0001t0008 a0001c0019t0001 a0003c0003t0005 a0007c0015t0035 a0016c0022t0013 a0023c0041t0008	a0001c0001t0008g0129 a0001c0019t0001g0002 a0003c0003t0005g0109 others(3): Show a0001c0001t0008g0129 a0001c0019t0001g0002 a0003c0003t0005g0109 a0007c0015t0035g0033 a0016c0022t0013g0044 a0023c0041t0008g0047	6	154	0.0390	-22	c.337 others(41): Show c.3372+9593_3372+9614delCTCTCTCTCTCTCTCTCTCTCT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP7_chr6_131130467_131288532	131247269	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA19043.hp1 NA19043.hp2 others(1): Show HG03209.hp2 NA19043.hp1 NA19043.hp2 NA20129.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0006 a0001c0001 a0002c0002 a0006c0006	a0001c0001t0001 a0002c0002t0020 a0002c0002t0037 others(1): Show a0001c0001t0001 a0002c0002t0020 a0002c0002t0037 a0006c0006t0035	a0001c0001t0001g0225 a0002c0002t0020g0149 a0002c0002t0037g0162 others(1): Show a0001c0001t0001g0225 a0002c0002t0020g0149 a0002c0002t0037g0162 a0006c0006t0035g0217	4	304	0.0132	-22	c.850 others(41): Show c.850+27485_850+27506delATATATATATATATATATATAT	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP8_chr19_15348385_15384787	15360086	GATCGTGC others(15): Show GATCGTGCCACTGCACTCCAGCC	G G	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	286	0.0035	-22	c.152 others(39): Show c.1527+740_1527+761delGGCTGGAGTGCAGTGGCACGAT	AKAP8	ENSG00000105127.10	transcript	ENST00000269701.7	protein_coding	12/13			chr19	TogoVar
AKAP9_chr7_91935862_92115673	92074114	CTATCCAT others(15): Show CTATCCATCTGACAAAGGGCTAA	C C	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	306	0.0033	-22	c.661 others(41): Show c.6613-2734_6613-2713delTCTGACAAAGGGCTAATATCCA	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	28/49		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKR1C8_chr10_5148920_5190150	5163839	TGCCTTTG others(15): Show TGCCTTTGTCCCAACATAAAAAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03471.hp1 HG02451.hp1 HG03471.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0164 a0004c0005t0004g0220 a0004c0005t0004g0164 a0004c0005t0004g0220	2	408	0.0049	-22	c.94- others(35): Show c.94-841_94-820delGTTTTTATGTTGGGACAAAGGC	AKR1C8	ENSG00000264006.9	transcript	ENST00000648824.2	protein_coding	1/8			chr10	TogoVar
AKR1C8_chr10_5148920_5190150	5179600	TCACTTTC others(15): Show TCACTTTCAGGTACACCAATCAG	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02572.hp1 HG02976.hp1 others(2): Show HG02257.hp1 HG02572.hp1 HG02976.hp1 HG03579.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0025 a0001c0001t0001g0241 a0001c0001t0001g0242	5	408	0.0123	-22	c.93+ others(37): Show c.93+5390_93+5411delCTGATTGGTGTACCTGAAAGTG	AKR1C8	ENSG00000264006.9	transcript	ENST00000648824.2	protein_coding	1/8			chr10	TogoVar
AKT1_chr14_104764349_104800748	104768786	CCCTGCAG others(15): Show CCCTGCAGCCCCTCCTCCCACCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0228 a0001c0001t0005g0228	1	386	0.0026	-22	c.15 others(33): Show c.1533_*1554delCGGTGGGAGGAGGGGCTGCAGG	AKT1	ENSG00000142208.18	transcript	ENST00000649815.2	protein_coding		562		chr14	TogoVar
AKT3_chr1_243494724_243855243	243526778	TTAAAAAA others(15): Show TTAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	301	0.0033	-22	c.125 others(43): Show c.1252-14374_1252-14353delTTTTTTTTTTTTTTTTTTTTTA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243527533	TCAGCATA others(15): Show TCAGCATAAAATTGGGCTTTGGG	T T	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0176 a0001c0001t0006g0176	1	301	0.0033	-22	c.125 others(43): Show c.1252-15129_1252-15108delCCCAAAGCCCAATTTTATGCTG	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243527870	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	301	0.0033	-22	c.125 others(43): Show c.1252-15466_1252-15445delGTGTGTGTGTGTGTGTGTGTGT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243527918	CACACACA others(15): Show CACACACACACACACACACAGAG	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0025 a0001c0001t0014g0025	1	301	0.0033	-22	c.125 others(43): Show c.1252-15514_1252-15493delCTCTGTGTGTGTGTGTGTGTGT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243693243	GATATATA others(15): Show GATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	301	0.0033	-22	c.172 others(39): Show c.172+2326_172+2347delATATATATATATATATATATAT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243699465	CTATATAT others(15): Show CTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00423.hp1 others(70): Show HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01433.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG02015.hp1 HG02080.hp2 HG02155.hp1 HG02280.hp2 HG02300.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG03017.hp2 HG03239.hp2 HG03453.hp2 HG03492.hp1 HG03669.hp1 HG03688.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp2 NA18747.hp2 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18952.hp1 NA18955.hp1 NA18957.hp1 NA18970.hp2 NA18974.hp1 NA18982.hp1 NA18984.hp1 NA18990.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19011.hp1 NA19043.hp1 NA19058.hp1 NA19060.hp1 NA19064.hp2 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19080.hp1 NA19088.hp2 NA19090.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0019 a0001c0001t0033 a0001c0001t0038 a0001c0001t0046	a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 others(70): Show a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0274 a0001c0001t0001g0281 a0001c0001t0002g0229 a0001c0001t0004g0017 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0007g0266 a0001c0001t0007g0267 a0001c0001t0007g0271 a0001c0001t0007g0272 a0001c0001t0007g0273 a0001c0001t0007g0280 a0001c0001t0009g0001 a0001c0001t0009g0002 a0001c0001t0009g0003 a0001c0001t0009g0004 a0001c0001t0011g0236 a0001c0001t0014g0025 a0001c0001t0014g0026 a0001c0001t0019g0268 a0001c0001t0019g0269 a0001c0001t0033g0145 a0001c0001t0038g0241 a0001c0001t0046g0278	73	301	0.2425	-22	c.47- others(37): Show c.47-3771_47-3750delTATATATATATATATATATATA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	2/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243832120	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0278 a0001c0001t0046g0278	1	301	0.0033	-22	c.46+ others(39): Show c.46+10983_46+11004delTTTTTTTTTTTTTTTTTTTTTT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	2/13			chr1	TogoVar
ALAS1_chr3_52193160_52219327	52193973	AAAAGAAA others(15): Show AAAAGAAAGAAAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	354	0.0028	-22	c.-44 others(33): Show c.-4491_-4470delAAAGAAAGAAAAAGAAAGAAAG	ALAS1	ENSG00000023330.15	transcript	ENST00000484952.6	protein_coding		4186		chr3	TogoVar
ALAS1_chr3_52193160_52219327	52216458	GCAGTGAG others(15): Show GCAGTGAGCCGAGATCATGCCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	354	0.0028	-22	c.22 others(33): Show c.2279_*2300delCAGTGAGCCGAGATCATGCCAC	ALAS1	ENSG00000023330.15	transcript	ENST00000484952.6	protein_coding		2132		chr3	TogoVar
ALAS2_chrX_55004055_55035977	55015959	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02895.hp1 HG02897.hp1 others(2): Show HG02723.hp1 HG02895.hp1 HG02897.hp1 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0101 a0001c0001t0002g0102 others(2): Show a0001c0001t0002g0045 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0135 a0001c0001t0002g0150	5	284	0.0176	-22	c.100 others(39): Show c.1004-239_1004-218delCACACACACACACACACACACA	ALAS2	ENSG00000158578.21	transcript	ENST00000650242.1	protein_coding	7/10			chrX	TogoVar
ALDH1A1_chr9_72895671_72958053	72908605	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18522.hp1 HG02109.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0173 a0001c0001t0001g0044 a0001c0001t0001g0173	2	306	0.0065	-22	c.135 others(39): Show c.1358+975_1358+996delCTTTCTTTCTTTCTTTCTTTCT	ALDH1A1	ENSG00000165092.13	transcript	ENST00000297785.8	protein_coding	11/12			chr9	TogoVar
ALDH1L2_chr12_105014790_105089458	105036510	TATTTTAT others(15): Show TATTTTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0188 a0001c0002t0002g0188	1	386	0.0026	-22	c.214 others(41): Show c.2145+1571_2145+1592delTATATATATATATATATAAAAT	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	18/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105036514	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02738.hp2 HG03491.hp1 others(1): Show HG02257.hp2 HG02738.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0010 a0001c0001t0001 a0001c0002t0010	a0001c0001t0001g0226 a0001c0002t0010g0068 a0001c0002t0010g0072 others(1): Show a0001c0001t0001g0226 a0001c0002t0010g0068 a0001c0002t0010g0072 a0001c0002t0010g0073	4	386	0.0104	-22	c.214 others(41): Show c.2145+1567_2145+1588delTATATATATATATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	18/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105036545	TATATATA others(15): Show TATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18522.hp2 HG01884.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0013 a0001c0001t0003g0014	2	386	0.0052	-22	c.214 others(41): Show c.2145+1536_2145+1557delTTATATATATATATATATATAT	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	18/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105046179	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTATATATA	C C	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18970.hp1 NA19000.hp1 others(3): Show NA18952.hp2 NA18970.hp1 NA19000.hp1 NA19058.hp1 NA19060.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0253 a0001c0001t0005g0324 a0001c0001t0005g0325 others(3): Show a0001c0001t0005g0253 a0001c0001t0005g0324 a0001c0001t0005g0325 a0001c0001t0005g0327 a0001c0001t0005g0329 a0001c0001t0005g0330	6	386	0.0155	-22	c.186 others(39): Show c.1863+509_1863+530delTATATATAGAGAGAGAGAGAGA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105046181	CTCTCTCT others(15): Show CTCTCTCTCTCTCTATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA19087.hp1 HG00408.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0320 a0001c0001t0005g0323 a0001c0001t0005g0320 a0001c0001t0005g0323	2	386	0.0052	-22	c.186 others(39): Show c.1863+507_1863+528delTATATATATAGAGAGAGAGAGA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105046183	CTCTCTCT others(15): Show CTCTCTCTCTCTATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0160 a0001c0001t0006g0160	1	386	0.0026	-22	c.186 others(39): Show c.1863+505_1863+526delTATATATATATAGAGAGAGAGA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
ALDH3B2_chr11_67657155_67679623	67670032	CTGTGTGT others(15): Show CTGTGTGTGTATGGGTGTCTCTA	C C	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0195 a0001c0001t0004g0195	1	390	0.0026	-22	c.-24 others(41): Show c.-244-2419_-244-2398delTAGAGACACCCATACACACACA	ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	1/9			chr11	TogoVar
ALG1L2_chr3_130076831_130103390	130099980	AACACACA others(15): Show AACACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01358.hp1 HG02717.hp1 others(9): Show HG00639.hp1 HG01358.hp1 HG02717.hp1 HG02735.hp2 HG02922.hp1 HG03041.hp2 HG03225.hp2 HG03492.hp1 NA18954.hp2 NA18971.hp2 NA20300.hp2 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0002c0004 others(2): Show a0001c0001 a0002c0002 a0002c0004 a0003c0005 a0005c0009	a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 a0003c0005t0001 a0005c0009t0001	a0001c0001t0001g0013 a0001c0001t0001g0099 a0001c0001t0001g0115 others(7): Show a0001c0001t0001g0013 a0001c0001t0001g0099 a0001c0001t0001g0115 a0001c0001t0001g0118 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0071 a0002c0004t0001g0127 a0003c0005t0001g0043 a0005c0009t0001g0150	12	261	0.0460	-22	c.17 others(33): Show c.1726_*1747delACACACACACACACACACACAC	ALG1L2	ENSG00000251287.9	transcript	ENST00000425059.1	protein_coding		1591		chr3	TogoVar
ALG6_chr1_63362627_63443553	63400244	CGTATATA others(15): Show CGTATATATATGTATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03098.hp1 HG02976.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0331 a0001c0001t0004g0332 a0001c0001t0002g0331 a0001c0001t0004g0332	2	388	0.0052	-22	c.168 others(39): Show c.168-2009_168-1988delGTATATATATGTATATATATAT	ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	3/14			chr1	TogoVar
ALG6_chr1_63362627_63443553	63400268	CGTATATA others(15): Show CGTATATATATATACGTATATAT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA19043.hp2 NA18522.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0014 a0001c0003t0012 a0001c0003t0014	a0001c0003t0012g0239 a0001c0003t0014g0240 a0001c0003t0012g0239 a0001c0003t0014g0240	2	388	0.0052	-22	c.168 others(39): Show c.168-1985_168-1964delGTATATATATATACGTATATAT	ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	3/14			chr1	TogoVar
ALK_chr2_29187774_29926586	29705260	TATATATA others(15): Show TATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01433.hp1 HG02738.hp1 HG01106.hp2 HG01433.hp1 HG02738.hp1	a0002 a0003 a0002 a0003	a0002c0007 a0003c0003 a0003c0031 a0002c0007 a0003c0003 a0003c0031	a0002c0007t0001 a0003c0003t0002 a0003c0031t0002 a0002c0007t0001 a0003c0003t0002 a0003c0031t0002	a0002c0007t0001g0066 a0003c0003t0002g0065 a0003c0031t0002g0030 a0002c0007t0001g0066 a0003c0003t0002g0065 a0003c0031t0002g0030	3	80	0.0375	-22	c.788 others(41): Show c.788-10268_788-10247delTTATATATATATATATATATAT	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	2/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29830712	TTAAAAAA others(15): Show TTAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02071.hp2 HG02280.hp1 others(2): Show HG02055.hp2 HG02071.hp2 HG02280.hp1 HG02451.hp2 NA18906.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0025 a0003c0003 a0003c0024 others(2): Show a0001c0025 a0003c0003 a0003c0024 a0003c0034 a0004c0042	a0001c0025t0011 a0003c0003t0002 a0003c0024t0009 others(2): Show a0001c0025t0011 a0003c0003t0002 a0003c0024t0009 a0003c0034t0002 a0004c0042t0003	a0001c0025t0011g0074 a0003c0003t0002g0038 a0003c0024t0009g0075 others(2): Show a0001c0025t0011g0074 a0003c0003t0002g0038 a0003c0024t0009g0075 a0003c0034t0002g0071 a0004c0042t0003g0073	5	80	0.0625	-22	c.667 others(41): Show c.667+89259_667+89280delTTTTTTTTTTTTTTTTTTTTTA	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29830713	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0049 a0002c0008t0001g0049	1	80	0.0125	-22	c.667 others(41): Show c.667+89258_667+89279delTTTTTTTTTTTTTTTTTTTTTT	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29889687	TAGATAGA others(15): Show TAGATAGACAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02486.hp2 HG02895.hp2 others(2): Show HG01433.hp2 HG02486.hp2 HG02895.hp2 HG02897.hp1 HG03540.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0009 a0001c0051 a0003c0010 others(1): Show a0001c0009 a0001c0051 a0003c0010 a0006c0029	a0001c0009t0005 a0001c0051t0001 a0003c0010t0006 others(1): Show a0001c0009t0005 a0001c0051t0001 a0003c0010t0006 a0006c0029t0001	a0001c0009t0005g0018 a0001c0051t0001g0019 a0003c0010t0006g0001 others(2): Show a0001c0009t0005g0018 a0001c0051t0001g0019 a0003c0010t0006g0001 a0003c0010t0006g0002 a0006c0029t0001g0016	5	80	0.0625	-22	c.667 others(41): Show c.667+30284_667+30305delCTCTCTCTCTCTCTGTCTATCT	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar

Search by Variant

Search

Search Results (Total: 9631 hits)