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
SPAG9_chr17_50957174_51125868	50981511	TAGATAGA others(12): Show TAGATAGATAGATAGATAGA	T T	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	292	0.0034	-19	c.323 others(37): Show c.3237+994_3237+1012delTCTATCTATCTATCTATCT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	25/29			chr17	TogoVar
SPANXN5_chrX_52791144_52802427	52792380	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	303	0.0033	-19	c.40 others(30): Show c.4089_*4107delACACACACACACACACACA	SPANXN5	ENSG00000204363.5	transcript	ENST00000375511.4	protein_coding		3763		chrX	TogoVar
SPARCL1_chr4_87468335_87534376	87486888	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00621.hp2 others(11): Show HG00408.hp1 HG00423.hp1 HG00621.hp2 HG01978.hp1 HG03516.hp1 HG03927.hp2 HG04228.hp1 NA18940.hp2 NA18960.hp1 NA19059.hp1 NA19065.hp1 NA19072.hp2 NA19081.hp1 NA19090.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0003 a0002c0001 a0009c0014 a0001c0003 a0002c0001 a0009c0014	a0001c0003t0001 a0001c0003t0003 a0002c0001t0002 others(1): Show a0001c0003t0001 a0001c0003t0003 a0002c0001t0002 a0009c0014t0002	a0001c0003t0001g0008 a0001c0003t0001g0118 a0001c0003t0001g0119 others(10): Show a0001c0003t0001g0008 a0001c0003t0001g0118 a0001c0003t0001g0119 a0001c0003t0001g0125 a0001c0003t0001g0131 a0001c0003t0001g0175 a0001c0003t0003g0176 a0002c0001t0002g0279 a0002c0001t0002g0294 a0002c0001t0002g0306 a0002c0001t0002g0318 a0002c0001t0002g0331 a0009c0014t0002g0340	14	390	0.0359	-19	c.153 others(38): Show c.1531+3366_1531+3384delAAAAAAAAAAAAAAAAAAA	SPARCL1	ENSG00000152583.13	transcript	ENST00000282470.11	protein_coding	7/10			chr4	TogoVar
SPARCL1_chr4_87468335_87534376	87506766	ATCTCTAT others(12): Show ATCTCTATCTATCTATCATC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00639.hp2 others(27): Show HG00423.hp2 HG00438.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG01070.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01433.hp1 HG02027.hp1 HG02040.hp1 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02280.hp2 HG02486.hp1 HG04184.hp1 NA18974.hp2 NA18986.hp1 NA19006.hp1 NA19010.hp2 NA19030.hp1 NA19059.hp2 NA19065.hp2 NA19080.hp1 NA19089.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0004 a0002c0001 a0003c0004	a0002c0001t0001 a0002c0001t0002 a0003c0004t0001 others(2): Show a0002c0001t0001 a0002c0001t0002 a0003c0004t0001 a0003c0004t0003 a0003c0004t0007	a0002c0001t0001g0099 a0002c0001t0001g0102 a0002c0001t0002g0362 others(27): Show a0002c0001t0001g0099 a0002c0001t0001g0102 a0002c0001t0002g0362 a0003c0004t0001g0095 a0003c0004t0003g0098 a0003c0004t0003g0101 a0003c0004t0003g0103 a0003c0004t0003g0104 a0003c0004t0003g0106 a0003c0004t0003g0108 a0003c0004t0003g0110 a0003c0004t0003g0111 a0003c0004t0003g0112 a0003c0004t0003g0113 a0003c0004t0003g0114 a0003c0004t0003g0115 a0003c0004t0003g0116 a0003c0004t0003g0117 a0003c0004t0003g0120 a0003c0004t0003g0121 a0003c0004t0003g0122 a0003c0004t0003g0128 a0003c0004t0003g0130 a0003c0004t0003g0135 a0003c0004t0003g0136 a0003c0004t0003g0139 a0003c0004t0003g0140 a0003c0004t0003g0211 a0003c0004t0003g0212 a0003c0004t0007g0014	30	390	0.0769	-19	c.-11 others(36): Show c.-11-7200_-11-7182delGATGATAGATAGATAGAGA	SPARCL1	ENSG00000152583.13	transcript	ENST00000282470.11	protein_coding	1/10			chr4	TogoVar
SPARCL1_chr4_87468335_87534376	87506768	CTCTATCT others(12): Show CTCTATCTATCTATCATCTA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00609.hp2 others(56): Show HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp2 HG00741.hp2 HG01081.hp2 HG01255.hp1 HG01346.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02074.hp2 HG02129.hp2 HG02132.hp1 HG02165.hp2 HG02572.hp2 HG02698.hp1 HG02976.hp2 HG03195.hp1 HG03239.hp2 HG03688.hp1 HG03831.hp1 HG04115.hp1 HG04115.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18953.hp2 NA18971.hp1 NA18978.hp2 NA18980.hp2 NA18983.hp2 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19010.hp1 NA19055.hp1 NA19059.hp1 NA19063.hp1 NA19063.hp2 NA19081.hp2 NA19085.hp1 NA19088.hp1 NA19091.hp1 NA20300.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0009 a0010	a0001c0002 a0002c0001 a0002c0013 others(3): Show a0001c0002 a0002c0001 a0002c0013 a0006c0009 a0009c0014 a0010c0010	a0001c0002t0001 a0001c0002t0002 a0002c0001t0001 others(5): Show a0001c0002t0001 a0001c0002t0002 a0002c0001t0001 a0002c0001t0002 a0002c0013t0001 a0006c0009t0002 a0009c0014t0002 a0010c0010t0002	a0001c0002t0001g0023 a0001c0002t0001g0028 a0001c0002t0001g0056 others(55): Show a0001c0002t0001g0023 a0001c0002t0001g0028 a0001c0002t0001g0056 a0001c0002t0002g0374 a0002c0001t0001g0074 a0002c0001t0001g0075 a0002c0001t0001g0076 a0002c0001t0001g0077 a0002c0001t0001g0078 a0002c0001t0001g0081 a0002c0001t0001g0217 a0002c0001t0001g0218 a0002c0001t0001g0219 a0002c0001t0002g0011 a0002c0001t0002g0263 a0002c0001t0002g0289 a0002c0001t0002g0290 a0002c0001t0002g0291 a0002c0001t0002g0292 a0002c0001t0002g0293 a0002c0001t0002g0294 a0002c0001t0002g0299 a0002c0001t0002g0303 a0002c0001t0002g0304 a0002c0001t0002g0306 a0002c0001t0002g0307 a0002c0001t0002g0310 a0002c0001t0002g0311 a0002c0001t0002g0312 a0002c0001t0002g0313 a0002c0001t0002g0314 a0002c0001t0002g0316 a0002c0001t0002g0317 a0002c0001t0002g0318 a0002c0001t0002g0319 a0002c0001t0002g0332 a0002c0001t0002g0333 a0002c0001t0002g0334 a0002c0001t0002g0335 a0002c0001t0002g0336 a0002c0001t0002g0337 a0002c0001t0002g0338 a0002c0001t0002g0339 a0002c0001t0002g0341 a0002c0001t0002g0346 a0002c0001t0002g0347 a0002c0001t0002g0350 a0002c0001t0002g0351 a0002c0001t0002g0354 a0002c0001t0002g0355 a0002c0001t0002g0356 a0002c0001t0002g0357 a0002c0001t0002g0358 a0002c0001t0002g0368 a0002c0013t0001g0216 a0006c0009t0002g0280 a0009c0014t0002g0340 a0010c0010t0002g0315	59	390	0.1513	-19	c.-11 others(36): Show c.-11-7202_-11-7184delTAGATGATAGATAGATAGA	SPARCL1	ENSG00000152583.13	transcript	ENST00000282470.11	protein_coding	1/10			chr4	TogoVar
SPAST_chr2_32058556_32162637	32083707	TTATACTA others(12): Show TTATACTATATATATTTATA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01070.hp2 HG01071.hp1 others(24): Show HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01261.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG02055.hp1 HG02148.hp1 HG02257.hp1 HG02293.hp2 HG02451.hp1 HG02559.hp1 HG02735.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG04204.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0025	a0001c0001t0002g0310 a0001c0001t0002g0318 a0001c0001t0002g0319 others(24): Show a0001c0001t0002g0310 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0004g0195 a0001c0001t0004g0201 a0001c0001t0004g0203 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0212 a0001c0001t0004g0253 a0001c0001t0004g0256 a0001c0001t0004g0291 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0302 a0001c0001t0004g0317 a0001c0001t0005g0193 a0001c0001t0005g0196 a0001c0001t0006g0244 a0001c0001t0006g0247 a0001c0001t0006g0250 a0001c0001t0013g0068 a0001c0001t0013g0069 a0001c0001t0013g0341 a0001c0001t0025g0320	27	342	0.0790	-19	c.416 others(36): Show c.416-3751_416-3733delTTATATATACTATATATAT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA13_chr13_24155720_24312069	24281035	ATAGCTGG others(12): Show ATAGCTGGCTCCCTGCTGCC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0092 a0001c0003t0016g0092	1	356	0.0028	-19	c.216 others(38): Show c.2165-3099_2165-3081delTAGCTGGCTCCCTGCTGCC	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	4/12			chr13	TogoVar
SPATA16_chr3_172884357_173146235	172961062	TCTTCTTT others(12): Show TCTTCTTTCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0154 a0003c0003t0001g0154	1	200	0.0050	-19	c.934 others(36): Show c.934-4257_934-4239delGAAGGAAGGAAGAAAGAAG	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	5/10			chr3	TogoVar
SPATA16_chr3_172884357_173146235	172973882	GATGTCGG others(12): Show GATGTCGGGTTGCAGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03139.hp2 HG01891.hp2 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0001 a0002c0005t0001 a0002c0002t0001 a0002c0005t0001	a0002c0002t0001g0144 a0002c0005t0001g0148 a0002c0002t0001g0144 a0002c0005t0001g0148	2	200	0.0100	-19	c.933 others(36): Show c.933+3067_933+3085delTGCCTCTGCAACCCGACAT	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	5/10			chr3	TogoVar
SPATA22_chr17_3435019_3476819	3435327	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG00735.hp2 others(42): Show HG00099.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp2 HG01517.hp1 HG01891.hp1 HG01952.hp2 HG02055.hp1 HG02145.hp1 HG02148.hp2 HG02280.hp1 HG02572.hp2 HG02602.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG02976.hp1 HG03195.hp1 HG03490.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03710.hp2 HG04115.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA19240.hp1 NA20805.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0002c0005 others(2): Show a0001c0001 a0002c0002 a0002c0005 a0004c0004 a0005c0012	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 a0004c0004t0002 a0005c0012t0002	a0001c0001t0001g0057 a0001c0001t0001g0059 a0002c0002t0001g0039 others(27): Show a0001c0001t0001g0057 a0001c0001t0001g0059 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0002g0049 a0002c0002t0002g0274 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0005t0001g0266 a0004c0004t0002g0003 a0004c0004t0002g0050 a0004c0004t0002g0051 a0004c0004t0002g0052 a0004c0004t0002g0053 a0004c0004t0002g0054 a0004c0004t0002g0283 a0004c0004t0002g0284 a0004c0004t0002g0285 a0004c0004t0002g0286 a0004c0004t0002g0287 a0004c0004t0002g0288 a0004c0004t0002g0289 a0004c0004t0002g0290 a0004c0004t0002g0291 a0004c0004t0002g0292 a0004c0004t0002g0293 a0004c0004t0002g0294 a0005c0012t0002g0281	45	420	0.1071	-19	c.48 others(30): Show c.4801_*4819delAAAAAAAAAAAAAAAAAAA	SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding		4691		chr17	TogoVar
SPATA31D3_chr9_81938500_81955093	81945273	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02451.hp1 NA19066.hp2 HG01358.hp1 HG02451.hp1 NA19066.hp2	a0002 a0008 a0015 a0002 a0008 a0015	a0002c0002 a0008c0010 a0015c0017 a0002c0002 a0008c0010 a0015c0017	a0002c0002t0003 a0008c0010t0001 a0015c0017t0001 a0002c0002t0003 a0008c0010t0001 a0015c0017t0001	a0002c0002t0003g0026 a0008c0010t0001g0026 a0015c0017t0001g0026 a0002c0002t0003g0026 a0008c0010t0001g0026 a0015c0017t0001g0026	3	380	0.0079	-19	c.293 others(32): Show c.293+67_293+85delTTTTTTTTTTTTTTTTTTT	SPATA31D3	ENSG00000186788.14	transcript	ENST00000445385.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA4_chr4_176179579_176200585	176188844	CTCATCCT others(12): Show CTCATCCTTCACTGAGGCTT	C C	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0055 a0001c0003t0001g0055	1	456	0.0022	-19	c.689 others(34): Show c.689-628_689-610delAAGCCTCAGTGAAGGATGA	SPATA4	ENSG00000150628.7	transcript	ENST00000280191.7	protein_coding	4/5			chr4	TogoVar
SPATA5_chr4_122918078_123324433	123007577	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02896.hp1 HG02897.hp1 HG02145.hp1 HG02896.hp1 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0010 a0002c0002t0003 a0002c0002t0010	a0002c0002t0003g0152 a0002c0002t0010g0150 a0002c0002t0010g0151 a0002c0002t0003g0152 a0002c0002t0010g0150 a0002c0002t0010g0151	3	262	0.0115	-19	c.187 others(40): Show c.1870-20608_1870-20590delGTGTGTGTGTGTGTGTGTG	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15			chr4	TogoVar
SPATA6L_chr9_4593316_4671480	4644183	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02257.hp1 others(3): Show HG01891.hp1 HG02109.hp1 HG02257.hp1 HG02258.hp1 HG03195.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0025 a0001c0001t0001 a0001c0001t0015 a0001c0001t0025	a0001c0001t0001g0039 a0001c0001t0001g0075 a0001c0001t0001g0139 others(3): Show a0001c0001t0001g0039 a0001c0001t0001g0075 a0001c0001t0001g0139 a0001c0001t0015g0189 a0001c0001t0015g0190 a0001c0001t0025g0234	6	408	0.0147	-19	c.227 others(36): Show c.227-8803_227-8785delTTTTTTTTTTTTTTTTTTT	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	3/11			chr9	TogoVar
SPATS2_chr12_49362462_49532425	49516157	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	158	0.0063	-19	c.898 others(36): Show c.898+1546_898+1564delAAAAAAAAATATATATATA	SPATS2	ENSG00000123352.18	transcript	ENST00000552918.6	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPATS2_chr12_49362462_49532425	49516167	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	158	0.0063	-19	c.898 others(36): Show c.898+1555_898+1573delTATATATATATATATATAT	SPATS2	ENSG00000123352.18	transcript	ENST00000552918.6	protein_coding	10/13			chr12	TogoVar
SPC25_chr2_168865891_168895430	168868493	AATAGACG others(12): Show AATAGACGCAATAAAAAATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	360	0.0028	-19	c.29 others(30): Show c.2919_*2937delCATTTTTTATTGCGTCTAT	SPC25	ENSG00000152253.9	transcript	ENST00000282074.7	protein_coding		2397		chr2	TogoVar
SPDL1_chr5_169578773_169609778	169606114	CATACTCC others(12): Show CATACTCCACCCAAAGGAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01361.hp2 HG01346.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	2	398	0.0050	-19	c.19 others(30): Show c.1908_*1926delATACTCCACCCAAAGGAGA	SPDL1	ENSG00000040275.17	transcript	ENST00000265295.9	protein_coding		1337		chr5	TogoVar
SPDYA_chr2_28805834_28855610	28854738	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18990.hp1 NA18978.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0289 a0001c0001t0001g0284 a0001c0001t0001g0289	2	338	0.0059	-19	c.47 others(30): Show c.4798_*4816delAAAAAAAAAAAAAAAAAAA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding		4129		chr2	TogoVar
SPDYE10_chr7_73099008_73160431	73150908	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0008 a0001c0001t0006g0008	1	216	0.0046	-19	c.-64 others(38): Show c.-640+4396_-640+4414delATATATATATATATATATA	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE21_chr7_67271941_67294005	67274831	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0112 a0001c0001t0005g0112	1	460	0.0022	-19	c.-26 others(30): Show c.-2653_-2635delAAAAAAAAAAAAAAAAAAA	SPDYE21	ENSG00000230358.6	transcript	ENST00000424157.4	protein_coding		2109		chr7	TogoVar
SPDYE21_chr7_67271941_67294005	67280691	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03704.hp1 HG02572.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0151 a0001c0001t0005g0110 a0001c0001t0003g0151 a0001c0001t0005g0110	2	460	0.0044	-19	c.380 others(34): Show c.380-663_380-645delAAAAAAAAAAAAAAAAAAA	SPDYE21	ENSG00000230358.6	transcript	ENST00000424157.4	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE9_chr7_73070972_73091038	73083722	CTTTTTTT others(12): Show CTTTTTTTTCTTCTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp2 HG03516.hp2 others(2): Show HG01243.hp2 HG02451.hp2 HG03516.hp2 HG06807.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0006	a0001c0001t0001g0063 a0002c0002t0001g0059 a0002c0002t0003g0061 others(2): Show a0001c0001t0001g0063 a0002c0002t0001g0059 a0002c0002t0003g0061 a0002c0002t0006g0060 a0002c0002t0006g0069	5	164	0.0305	-19	c.130 others(34): Show c.130+368_130+386delAAAAAAAGAAGAAAAAAAA	SPDYE9	ENSG00000262461.7	transcript	ENST00000575125.6	protein_coding	2/7			chr7	TogoVar
SPECC1L_chr22_24265831_24422738	24273142	GTTTCTTC others(12): Show GTTTCTTCCTCAGATGTGAT	G G	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0065 a0001c0001t0004g0065	1	326	0.0031	-19	c.-14 others(38): Show c.-142+2162_-142+2180delTCTTCCTCAGATGTGATTT	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1_chr17_20004359_20324026	20038367	GCATTGCT others(12): Show GCATTGCTTTAACTATGTCC	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02055.hp1 HG02109.hp1 others(3): Show HG01192.hp1 HG02055.hp1 HG02109.hp1 HG02559.hp2 HG03130.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0055 a0001c0003t0060 others(2): Show a0001c0003t0021 a0001c0003t0055 a0001c0003t0060 a0001c0003t0062 a0001c0003t0063	a0001c0003t0021g0194 a0001c0003t0021g0198 a0001c0003t0055g0196 others(3): Show a0001c0003t0021g0194 a0001c0003t0021g0198 a0001c0003t0055g0196 a0001c0003t0060g0195 a0001c0003t0062g0242 a0001c0003t0063g0197	6	250	0.0240	-19	c.-22 others(38): Show c.-22+28946_-22+28964delTTGCTTTAACTATGTCCCA	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20188479	AATTCCTG others(12): Show AATTCCTGACCTCAGGTGAT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01099.hp2 HG01070.hp1 HG01099.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0003 a0003c0007t0003	a0003c0007t0003g0074 a0003c0007t0003g0075 a0003c0007t0003g0074 a0003c0007t0003g0075	2	250	0.0080	-19	c.284 others(38): Show c.284-15834_284-15816delATTCCTGACCTCAGGTGAT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20227004	CCTCCCAG others(12): Show CCTCCCAGGGAAGCACTGCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG01070.hp1 others(66): Show HG00140.hp2 HG00408.hp2 HG01070.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01515.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01981.hp2 HG02027.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02273.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02630.hp2 HG02723.hp1 HG02922.hp1 HG03041.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03654.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp2 NA18942.hp1 NA18944.hp2 NA18951.hp2 NA18957.hp2 NA18966.hp1 NA18968.hp2 NA18974.hp1 NA18975.hp2 NA18980.hp1 NA18984.hp2 NA18986.hp2 NA18998.hp2 NA19004.hp2 NA19009.hp1 NA19012.hp1 NA19043.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19076.hp1 NA19080.hp2 NA19081.hp1 NA19087.hp2 NA19240.hp1 NA20805.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0001c0016 others(6): Show a0001c0001 a0001c0003 a0001c0016 a0003c0004 a0003c0007 a0003c0012 a0003c0013 a0004c0005 a0004c0015	a0001c0001t0030 a0001c0001t0031 a0001c0001t0098 others(35): Show a0001c0001t0030 a0001c0001t0031 a0001c0001t0098 a0001c0003t0048 a0001c0003t0049 a0001c0016t0103 a0003c0004t0003 a0003c0004t0011 a0003c0004t0016 a0003c0004t0019 a0003c0004t0029 a0003c0004t0034 a0003c0004t0042 a0003c0004t0043 a0003c0004t0054 a0003c0004t0076 a0003c0004t0109 a0003c0004t0110 a0003c0004t0113 a0003c0007t0003 a0003c0007t0011 a0003c0007t0016 a0003c0012t0108 a0003c0012t0111 a0003c0013t0112 a0004c0005t0008 a0004c0005t0009 a0004c0005t0023 a0004c0005t0038 a0004c0005t0046 a0004c0005t0056 a0004c0005t0057 a0004c0005t0058 a0004c0005t0064 a0004c0005t0065 a0004c0005t0066 a0004c0005t0067 a0004c0015t0059	a0001c0001t0030g0178 a0001c0001t0030g0181 a0001c0001t0031g0002 others(66): Show a0001c0001t0030g0178 a0001c0001t0030g0181 a0001c0001t0031g0002 a0001c0001t0031g0180 a0001c0001t0098g0179 a0001c0003t0048g0056 a0001c0003t0049g0011 a0001c0016t0103g0103 a0003c0004t0003g0008 a0003c0004t0003g0072 a0003c0004t0003g0079 a0003c0004t0003g0080 a0003c0004t0003g0084 a0003c0004t0003g0086 a0003c0004t0003g0089 a0003c0004t0003g0090 a0003c0004t0003g0093 a0003c0004t0003g0095 a0003c0004t0003g0096 a0003c0004t0003g0220 a0003c0004t0011g0077 a0003c0004t0011g0078 a0003c0004t0011g0092 a0003c0004t0016g0219 a0003c0004t0019g0211 a0003c0004t0019g0215 a0003c0004t0029g0191 a0003c0004t0029g0192 a0003c0004t0034g0082 a0003c0004t0034g0094 a0003c0004t0042g0210 a0003c0004t0043g0203 a0003c0004t0054g0217 a0003c0004t0076g0190 a0003c0004t0109g0085 a0003c0004t0110g0083 a0003c0004t0113g0087 a0003c0007t0003g0074 a0003c0007t0003g0075 a0003c0007t0003g0076 a0003c0007t0003g0088 a0003c0007t0003g0091 a0003c0007t0011g0099 a0003c0007t0016g0073 a0003c0007t0016g0081 a0003c0012t0108g0100 a0003c0012t0111g0098 a0003c0013t0112g0097 a0004c0005t0008g0227 a0004c0005t0008g0228 a0004c0005t0008g0229 a0004c0005t0008g0233 a0004c0005t0008g0235 a0004c0005t0009g0226 a0004c0005t0009g0232 a0004c0005t0009g0240 a0004c0005t0009g0241 a0004c0005t0023g0225 a0004c0005t0023g0234 a0004c0005t0038g0237 a0004c0005t0046g0202 a0004c0005t0056g0236 a0004c0005t0057g0223 a0004c0005t0058g0239 a0004c0005t0064g0222 a0004c0005t0065g0231 a0004c0005t0066g0224 a0004c0005t0067g0238 a0004c0015t0059g0230	69	250	0.2760	-19	c.186 others(36): Show c.1864-384_1864-366delAGGGAAGCACTGCTCTCCC	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20270433	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0099 a0001c0010t0099	a0001c0010t0099g0173 a0001c0010t0099g0173	1	250	0.0040	-19	c.294 others(40): Show c.2940+10155_2940+10173delAAAAAAAAAAAAAAAAAAA	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPEG_chr2_219429843_219498629	219442777	TCGGGCTG others(12): Show TCGGGCTGTTGCCCTGGTCC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02257.hp1 HG02818.hp2 others(1): Show HG01257.hp1 HG02257.hp1 HG02818.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0076 a0001c0002 a0001c0076	a0001c0002t0001 a0001c0076t0001 a0001c0002t0001 a0001c0076t0001	a0001c0002t0001g0060 a0001c0002t0001g0283 a0001c0002t0001g0284 others(1): Show a0001c0002t0001g0060 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0076t0001g0103	4	304	0.0132	-19	c.389 others(36): Show c.389-1848_389-1830delTGCCCTGGTCCCGGGCTGT	SPEG	ENSG00000072195.15	transcript	ENST00000312358.12	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPEG_chr2_219429843_219498629	219463392	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0075 a0003c0005t0001g0075	1	304	0.0033	-19	c.270 others(38): Show c.2706-1021_2706-1003delTTTTTTTTTTTTTTTTTTT	SPEG	ENSG00000072195.15	transcript	ENST00000312358.12	protein_coding	8/40		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPG11_chr15_44557696_44668662	44576877	AGTGCAGT others(12): Show AGTGCAGTGGCACCATCTCG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0015 a0020 a0015 a0020	a0015c0020 a0020c0017 a0015c0020 a0020c0017	a0015c0020t0001 a0020c0017t0001 a0015c0020t0001 a0020c0017t0001	a0015c0020t0001g0123 a0020c0017t0001g0065 a0015c0020t0001g0123 a0020c0017t0001g0065	2	190	0.0105	-19	c.586 others(38): Show c.5867-1855_5867-1837delCGAGATGGTGCCACTGCAC	SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	30/39			chr15	TogoVar
SPG11_chr15_44557696_44668662	44636925	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03017.hp2 HG01106.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0091 a0001c0001t0001g0094	2	190	0.0105	-19	c.160 others(38): Show c.1603-3307_1603-3289delTTTTTTTTTTTTTTTTTTT	SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	7/39			chr15	TogoVar
SPIC_chr12_101470336_101491997	101479288	GAAAGAAA others(12): Show GAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0135 a0002c0002t0001g0135	1	398	0.0025	-19	c.98- others(32): Show c.98-274_98-256delAAAGAAAGAAAGAAAGAAA	SPIC	ENSG00000166211.8	transcript	ENST00000551346.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPIDR_chr8_47255938_47741306	47309045	GCTTCCTA others(12): Show GCTTCCTACTCCACCATCTT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03225.hp2 HG03453.hp2 others(1): Show HG02602.hp2 HG03225.hp2 HG03453.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 others(1): Show a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0004	4	216	0.0185	-19	c.525 others(38): Show c.525+15017_525+15035delTTCCTACTCCACCATCTTC	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47368343	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	216	0.0046	-19	c.526 others(38): Show c.526-28010_526-27992delAAAAAAAAAAAAAAAAAAA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47545100	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	216	0.0046	-19	c.109 others(40): Show c.1098-50708_1098-50690delCTTTCTTTCTTTCTTTCTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47640841	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	216	0.0046	-19	c.154 others(40): Show c.1545-32934_1545-32916delTTTTTTTTTTTTTTTTTTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPINK7_chr5_148307423_148320919	148320796	GCATTCGC others(12): Show GCATTCGCGGTTCACGTGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00544.hp1 others(155): Show HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01243.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02155.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03942.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18906.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18952.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp2 NA18965.hp2 NA18971.hp2 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18985.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19075.hp2 NA19077.hp1 NA19084.hp2 NA19085.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0002c0003t0002	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0006 others(9): Show a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0003g0002 a0001c0001t0004g0006 a0001c0001t0006g0002 a0001c0001t0007g0006 a0002c0003t0002g0012	158	448	0.3527	-19	c.51 others(30): Show c.5113_*5131delCATTCGCGGTTCACGTGAT	SPINK7	ENSG00000145879.11	transcript	ENST00000274565.5	protein_coding		4878		chr5	TogoVar
SPINT2_chr19_38259573_38297615	38259633	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	400	0.0025	-19	c.-52 others(30): Show c.-5259_-5241delTATATATTTTTTTTTTTTT	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding		4939		chr19	TogoVar
SPINT2_chr19_38259573_38297615	38259639	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01891.hp1 HG02040.hp2 others(1): Show HG00735.hp1 HG01891.hp1 HG02040.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0163 a0001c0001t0001g0169 others(1): Show a0001c0001t0001g0028 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0171	4	400	0.0100	-19	c.-52 others(30): Show c.-5253_-5235delTTTTTTTTTTTTTTTTTTT	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding		4933		chr19	TogoVar
SPIRE1_chr18_12441512_12663107	12476270	GGCTCACG others(12): Show GGCTCACGCCTGTAATCCCA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0264 a0001c0002t0010g0264	1	328	0.0031	-19	c.140 others(38): Show c.1404+3410_1404+3428delTGGGATTACAGGCGTGAGC	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	10/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12478534	TAGCTAGG others(12): Show TAGCTAGGGTGTGTGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG00735.hp1 others(10): Show HG00140.hp1 HG00639.hp2 HG00735.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01243.hp2 HG01515.hp2 HG01516.hp1 HG02602.hp2 HG03017.hp1 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 others(2): Show a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0001t0024 a0001c0001t0033	a0001c0001t0006g0023 a0001c0001t0006g0027 a0001c0001t0006g0028 others(10): Show a0001c0001t0006g0023 a0001c0001t0006g0027 a0001c0001t0006g0028 a0001c0001t0006g0033 a0001c0001t0006g0036 a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0012g0003 a0001c0001t0012g0004 a0001c0001t0014g0018 a0001c0001t0014g0019 a0001c0001t0024g0090 a0001c0001t0033g0313	13	328	0.0396	-19	c.140 others(38): Show c.1404+1146_1404+1164delTCACACACACACCCTAGCT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	10/16			chr18	TogoVar
SPNS2_chr17_4493881_4544035	4527112	AGAAACAG others(12): Show AGAAACAGGTCACCTCCAGT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02922.hp1 HG02976.hp2 HG02280.hp2 HG02922.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0353 a0001c0001t0004g0233 a0001c0001t0004g0354 a0001c0001t0001g0353 a0001c0001t0004g0233 a0001c0001t0004g0354	3	404	0.0074	-19	c.573 others(36): Show c.573+1923_573+1941delACAGGTCACCTCCAGTGAA	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPOCK1_chr5_136970298_137504326	137256211	TCCCTCTT others(12): Show TCCCTCTTTTAAAGGCTAAA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0055	1	152	0.0066	-19	c.232 others(38): Show c.232+10780_232+10798delTTTAGCCTTTAAAAGAGGG	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	3/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137292426	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0003 a0001c0001t0020g0003	1	152	0.0066	-19	c.187 others(38): Show c.187-25390_187-25372delTTTTTTTTTTTTTTTTTTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK3_chr4_166728384_167239494	167223031	TTATATTT others(12): Show TTATATTTTATATATGAATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01884.hp2 HG02683.hp2 HG00140.hp1 HG01884.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0082 a0001c0001t0002g0103 a0001c0002t0001g0081 a0001c0001t0002g0082 a0001c0001t0002g0103 a0001c0002t0001g0081	3	144	0.0208	-19	c.189 others(38): Show c.189+10935_189+10953delTATTCATATATAAAATATA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPON1_chr11_13957723_14273133	14113568	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp1 HG02486.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0028 a0001c0003t0001g0101 a0001c0001t0001g0028 a0001c0003t0001g0101	2	224	0.0089	-19	c.677 others(38): Show c.677-21818_677-21800delTTTTTTTTTTTTTTTTTTT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14161156	TTTATATA others(12): Show TTTATATATATCTATATATC	T T	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0106 a0001c0004t0001g0106	1	224	0.0045	-19	c.825 others(38): Show c.825+25590_825+25608delTATATATATCTATATATCT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14161580	GTGTGCCG others(12): Show GTGTGCCGGGATTACAGGCA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0170 a0001c0009t0001g0170	1	224	0.0045	-19	c.825 others(38): Show c.825+26015_825+26033delTGCCGGGATTACAGGCATG	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPOUT1_chr9_128814651_128834794	128819254	GTTCTTCT others(12): Show GTTCTTCTGCAGAACGGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	410	0.0024	-19	c.34 others(30): Show c.3492_*3510delGCCCCGTTCTGCAGAAGAA	SPOUT1	ENSG00000198917.13	transcript	ENST00000361256.10	protein_coding		396		chr9	TogoVar

Search by Variant

Search

Search Results (Total: 7091 hits)