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.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
ITGB4_chr17_75716459_75762818	75754938	ACATGCAC others(17): Show ACATGCACGCACACACGTGCACACG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0127 a0002c0006t0002g0127	1	382	0.0026	-24	c.455 others(41): Show c.4558+131_4558+154delGCACACACGTGCACACGCATGCAC	ITGB4	ENSG00000132470.14	transcript	ENST00000200181.8	protein_coding	34/39		INFO_REALIGN_3_PRIME	chr17	TogoVar
ITGB5_chr3_124756948_124892365	124887134	GCGCCCGC others(17): Show GCGCCCGCGCTGGCCCGCGCCCCGC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0012 a0001c0022t0012	a0001c0022t0012g0002 a0001c0022t0012g0002	1	352	0.0028	-24	c.-15 others(33): Show c.-158_-135delGCGGGGCGCGGGCCAGCGCGGGCG	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	1/15	135		chr3	TogoVar
ITGBL1_chr13_101447675_101721446	101605020	GTATATGT others(17): Show GTATATGTATATATACATATACGCA	G G	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0098 a0001c0003t0001g0098	1	306	0.0033	-24	c.101 others(43): Show c.1015+6729_1015+6752delATATATACATATACGCATATATGT	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITIH2_chr10_7698316_7754520	7737678	TTTCTATA others(17): Show TTTCTATATTATATTCTATATAATA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0199 a0004c0005t0001g0199	1	380	0.0026	-24	c.195 others(41): Show c.1958-801_1958-778delATATTCTATATTATATTCTATATA	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7738199	AAATATTA others(17): Show AAATATTATATATTATATTCTATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00642.hp1 HG01517.hp2 others(21): Show HG00558.hp2 HG00642.hp1 HG01517.hp2 HG02071.hp2 HG02135.hp1 HG03831.hp1 HG03927.hp2 NA18612.hp1 NA18947.hp1 NA18952.hp2 NA18953.hp2 NA18957.hp1 NA18957.hp2 NA18965.hp1 NA18971.hp2 NA18973.hp2 NA18987.hp1 NA18999.hp1 NA19010.hp2 NA19012.hp1 NA19070.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0020	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0002c0020t0001	a0001c0001t0001g0141 a0001c0002t0001g0156 a0002c0003t0001g0003 others(20): Show a0001c0001t0001g0141 a0001c0002t0001g0156 a0002c0003t0001g0003 a0002c0003t0001g0032 a0002c0003t0001g0172 a0002c0003t0001g0176 a0002c0003t0001g0178 a0002c0003t0001g0180 a0002c0003t0001g0190 a0002c0003t0001g0191 a0002c0003t0001g0192 a0002c0003t0001g0193 a0002c0003t0001g0205 a0002c0003t0001g0206 a0002c0003t0001g0207 a0002c0003t0001g0208 a0002c0003t0001g0209 a0002c0003t0001g0210 a0002c0003t0001g0218 a0002c0003t0001g0219 a0002c0003t0001g0236 a0002c0003t0001g0240 a0002c0020t0001g0282	24	380	0.0632	-24	c.195 others(41): Show c.1958-329_1958-306delATATAATATTATATATTATATTCT	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH5_chr10_7554270_7671966	7566790	AGAAGAAG others(17): Show AGAAGAAGAAGAGGAAGAGGAAGAG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18980.hp1 NA18522.hp2 NA18980.hp1	a0001 a0003 a0001 a0003	a0001c0080 a0003c0005 a0001c0080 a0003c0005	a0001c0080t0001 a0003c0005t0009 a0001c0080t0001 a0003c0005t0009	a0001c0080t0001g0289 a0003c0005t0009g0309 a0001c0080t0001g0289 a0003c0005t0009g0309	2	342	0.0059	-24	c.215 others(41): Show c.2150-407_2150-384delCTCTTCCTCTTCCTCTTCTTCTTC	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7566826	GGAAGAGG others(17): Show GGAAGAGGAAGAGGAAGAGGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0000 a0000	a0000c0057 a0000c0057	a0000c0057t0035 a0000c0057t0035	a0000c0057t0035g0191 a0000c0057t0035g0191	1	342	0.0029	-24	c.215 others(41): Show c.2150-443_2150-420delTTCTTCCTCTTCCTCTTCCTCTTC	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7566832	GGAAGAGG others(17): Show GGAAGAGGAAGAGGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00738.hp2 others(19): Show HG00099.hp1 HG00099.hp2 HG00738.hp2 HG01070.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01515.hp2 HG02027.hp1 HG02040.hp2 HG02135.hp2 HG02622.hp2 HG03225.hp2 HG03239.hp2 HG03710.hp1 NA18906.hp2 NA18942.hp2 NA18948.hp2 NA18950.hp1 NA18965.hp1 NA19030.hp2 NA19066.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0031 a0032	a0001c0001 a0001c0006 a0002c0003 others(7): Show a0001c0001 a0001c0006 a0002c0003 a0002c0004 a0002c0009 a0003c0005 a0004c0007 a0004c0008 a0031c0084 a0032c0071	a0001c0001t0001 a0001c0001t0024 a0001c0006t0001 others(12): Show a0001c0001t0001 a0001c0001t0024 a0001c0006t0001 a0001c0006t0017 a0002c0003t0001 a0002c0003t0012 a0002c0003t0043 a0002c0004t0001 a0002c0004t0051 a0002c0009t0010 a0003c0005t0002 a0004c0007t0018 a0004c0008t0054 a0031c0084t0059 a0032c0071t0001	a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0065 others(18): Show a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0065 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0024g0026 a0001c0006t0001g0114 a0001c0006t0001g0152 a0001c0006t0017g0156 a0002c0003t0001g0306 a0002c0003t0012g0021 a0002c0003t0043g0020 a0002c0004t0001g0001 a0002c0004t0001g0173 a0002c0004t0051g0254 a0002c0009t0010g0096 a0003c0005t0002g0310 a0004c0007t0018g0304 a0004c0008t0054g0004 a0031c0084t0059g0284 a0032c0071t0001g0171	22	342	0.0643	-24	c.215 others(41): Show c.2150-449_2150-426delTTCTTCTTCTTCCTCTTCCTCTTC	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7566838	GGAAGAGG others(17): Show GGAAGAGGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03491.hp2 HG03017.hp2 HG03491.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0016 a0002c0003t0016	a0002c0003t0016g0105 a0002c0003t0016g0133 a0002c0003t0016g0105 a0002c0003t0016g0133	2	342	0.0059	-24	c.215 others(41): Show c.2150-455_2150-432delTTCTTCTTCTTCTTCTTCCTCTTC	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7644902	TATATATA others(17): Show TATATATATCACATATATATATCAC	T T	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02965.hp2 HG03098.hp2 others(2): Show HG02074.hp1 HG02965.hp2 HG03098.hp2 HG03139.hp2 NA18993.hp2	a0000 a0002 a0003 others(1): Show a0000 a0002 a0003 a0004	a0000c0065 a0002c0004 a0003c0005 others(2): Show a0000c0065 a0002c0004 a0003c0005 a0003c0058 a0004c0007	a0000c0065t0007 a0002c0004t0001 a0003c0005t0001 others(2): Show a0000c0065t0007 a0002c0004t0001 a0003c0005t0001 a0003c0058t0052 a0004c0007t0001	a0000c0065t0007g0147 a0002c0004t0001g0192 a0003c0005t0001g0154 others(2): Show a0000c0065t0007g0147 a0002c0004t0001g0192 a0003c0005t0001g0154 a0003c0058t0052g0278 a0004c0007t0001g0318	5	342	0.0146	-24	c.136 others(41): Show c.136-2836_136-2813delGTGATATATATATGTGATATATAT	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	2/13			chr10	TogoVar
ITLN1_chr1_160871540_160890180	160875743	ACTTCTTC others(17): Show ACTTCTTCCCCTTCCTCTTTCCCTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	428	0.0023	-24	c.89 others(33): Show c.897_*920delAAGGGAAAGAGGAAGGGGAAGAAG	ITLN1	ENSG00000179914.5	transcript	ENST00000326245.4	protein_coding		796		chr1	TogoVar
ITPR1_chr3_4488348_4852506	4609051	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	176	0.0057	-24	c.164 others(43): Show c.164-18696_164-18673delTATATATATATATATATATATATA	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	4/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR1_chr3_4488348_4852506	4744898	CTCCTTCC others(17): Show CTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00544.hp1 others(91): Show HG00323.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp1 HG01175.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01496.hp1 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02293.hp2 HG02451.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03225.hp2 HG03239.hp2 HG03579.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 NA18612.hp1 NA18612.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18974.hp1 NA18974.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18991.hp1 NA18991.hp2 NA19000.hp1 NA19000.hp2 NA19012.hp1 NA19012.hp2 NA19074.hp1 NA19074.hp2 NA19240.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(56): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0023 a0001c0024 a0001c0025 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0043 a0001c0044 a0001c0045 a0001c0046 a0001c0047 a0001c0048 a0001c0056 a0001c0058 a0001c0059 a0001c0060 a0001c0061 a0001c0062 a0001c0063 a0001c0065 a0001c0066 a0001c0069 a0001c0071 a0001c0075 a0001c0079 a0001c0081 a0001c0082 a0001c0083 a0001c0086 a0001c0088 a0001c0089 a0001c0091 a0001c0095 a0001c0099 a0001c0101 a0002c0096 a0002c0097 a0003c0052 a0005c0072	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(75): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0017 a0001c0002t0001 a0001c0002t0002 a0001c0002t0015 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0004t0001 a0001c0004t0002 a0001c0005t0002 a0001c0005t0008 a0001c0005t0013 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0007t0001 a0001c0007t0003 a0001c0008t0001 a0001c0009t0001 a0001c0011t0008 a0001c0012t0001 a0001c0013t0001 a0001c0013t0003 a0001c0014t0001 a0001c0014t0003 a0001c0015t0001 a0001c0016t0002 a0001c0018t0001 a0001c0018t0002 a0001c0019t0002 a0001c0020t0002 a0001c0021t0001 a0001c0023t0003 a0001c0024t0002 a0001c0025t0003 a0001c0025t0007 a0001c0027t0002 a0001c0028t0002 a0001c0029t0001 a0001c0030t0001 a0001c0043t0002 a0001c0044t0001 a0001c0045t0005 a0001c0046t0001 a0001c0047t0001 a0001c0048t0006 a0001c0056t0003 a0001c0058t0005 a0001c0059t0011 a0001c0060t0001 a0001c0061t0002 a0001c0062t0001 a0001c0063t0001 a0001c0065t0003 a0001c0066t0001 a0001c0069t0005 a0001c0071t0001 a0001c0075t0001 a0001c0079t0002 a0001c0081t0001 a0001c0082t0001 a0001c0083t0001 a0001c0086t0001 a0001c0088t0001 a0001c0089t0002 a0001c0091t0001 a0001c0095t0001 a0001c0099t0002 a0001c0101t0001 a0002c0096t0002 a0002c0097t0008 a0003c0052t0008 a0005c0072t0002	a0001c0001t0001g0004 a0001c0001t0001g0142 a0001c0001t0002g0005 others(91): Show a0001c0001t0001g0004 a0001c0001t0001g0142 a0001c0001t0002g0005 a0001c0001t0002g0018 a0001c0001t0002g0045 a0001c0001t0003g0100 a0001c0001t0005g0034 a0001c0001t0005g0089 a0001c0001t0012g0083 a0001c0001t0012g0090 a0001c0001t0017g0176 a0001c0002t0001g0028 a0001c0002t0001g0060 a0001c0002t0001g0172 a0001c0002t0002g0086 a0001c0002t0015g0130 a0001c0003t0001g0085 a0001c0003t0003g0139 a0001c0003t0003g0155 a0001c0003t0003g0161 a0001c0003t0004g0110 a0001c0004t0001g0008 a0001c0004t0002g0002 a0001c0004t0002g0087 a0001c0005t0002g0140 a0001c0005t0008g0082 a0001c0005t0013g0093 a0001c0006t0001g0103 a0001c0006t0001g0126 a0001c0006t0002g0157 a0001c0006t0003g0070 a0001c0007t0001g0147 a0001c0007t0003g0043 a0001c0008t0001g0006 a0001c0009t0001g0057 a0001c0011t0008g0047 a0001c0012t0001g0009 a0001c0012t0001g0021 a0001c0012t0001g0066 a0001c0013t0001g0132 a0001c0013t0003g0138 a0001c0014t0001g0133 a0001c0014t0003g0053 a0001c0015t0001g0041 a0001c0015t0001g0051 a0001c0015t0001g0107 a0001c0016t0002g0031 a0001c0018t0001g0097 a0001c0018t0002g0044 a0001c0019t0002g0158 a0001c0020t0002g0040 a0001c0021t0001g0088 a0001c0023t0003g0137 a0001c0024t0002g0151 a0001c0025t0003g0073 a0001c0025t0007g0112 a0001c0027t0002g0109 a0001c0028t0002g0098 a0001c0028t0002g0136 a0001c0029t0001g0062 a0001c0030t0001g0063 a0001c0043t0002g0092 a0001c0044t0001g0069 a0001c0045t0005g0159 a0001c0046t0001g0099 a0001c0047t0001g0135 a0001c0048t0006g0153 a0001c0056t0003g0007 a0001c0058t0005g0036 a0001c0059t0011g0094 a0001c0060t0001g0077 a0001c0061t0002g0061 a0001c0062t0001g0125 a0001c0063t0001g0108 a0001c0065t0003g0149 a0001c0066t0001g0054 a0001c0069t0005g0154 a0001c0071t0001g0095 a0001c0075t0001g0050 a0001c0079t0002g0105 a0001c0081t0001g0033 a0001c0082t0001g0059 a0001c0083t0001g0160 a0001c0086t0001g0039 a0001c0088t0001g0146 a0001c0089t0002g0071 a0001c0091t0001g0091 a0001c0095t0001g0027 a0001c0099t0002g0026 a0001c0101t0001g0012 a0002c0096t0002g0102 a0002c0097t0008g0156 a0003c0052t0008g0164 a0005c0072t0002g0104	94	176	0.5341	-24	c.554 others(43): Show c.5544+9572_5544+9595delTTCCTTCCTTCCTTCCTTCCTTCC	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	44/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR2_chr12_26330352_26838194	26461621	CATATAAA others(17): Show CATATAAATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02055.hp1 HG02280.hp1 others(7): Show HG00642.hp2 HG02055.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02895.hp1 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0011	a0001c0001 a0001c0005 a0002c0023 others(7): Show a0001c0001 a0001c0005 a0002c0023 a0003c0032 a0003c0033 a0003c0038 a0003c0041 a0003c0047 a0005c0036 a0011c0067	a0001c0001t0035 a0001c0005t0016 a0002c0023t0019 others(7): Show a0001c0001t0035 a0001c0005t0016 a0002c0023t0019 a0003c0032t0009 a0003c0033t0034 a0003c0038t0009 a0003c0041t0003 a0003c0047t0004 a0005c0036t0015 a0011c0067t0003	a0001c0001t0035g0053 a0001c0005t0016g0025 a0002c0023t0019g0131 others(7): Show a0001c0001t0035g0053 a0001c0005t0016g0025 a0002c0023t0019g0131 a0003c0032t0009g0049 a0003c0033t0034g0034 a0003c0038t0009g0012 a0003c0041t0003g0091 a0003c0047t0004g0076 a0005c0036t0015g0101 a0011c0067t0003g0007	10	142	0.0704	-24	c.634 others(45): Show c.6342+13651_6342+13674delATATATATATATATATATTTATAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	45/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26649773	CTAGATAG others(17): Show CTAGATAGATAGATAGATAGATAGA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0042 a0001c0016t0042	a0001c0016t0042g0107 a0001c0016t0042g0107	1	142	0.0070	-24	c.274 others(43): Show c.2740+4179_2740+4202delTCTATCTATCTATCTATCTATCTA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	21/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26785352	GCGCCTCT others(17): Show GCGCCTCTGCCCGGCCGCCCCTACT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00642.hp1 others(56): Show HG00140.hp1 HG00323.hp1 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01168.hp2 HG01256.hp1 HG01433.hp1 HG01496.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02109.hp2 HG02132.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp1 HG02630.hp2 HG02738.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03492.hp2 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 NA18747.hp2 NA18906.hp2 NA18956.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18970.hp1 NA18970.hp2 NA18980.hp1 NA19056.hp2 NA19090.hp1 NA19090.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0008 a0011	a0001c0001 a0001c0002 a0001c0003 others(28): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0012 a0001c0016 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0035 a0001c0040 a0001c0042 a0001c0043 a0001c0045 a0001c0048 a0002c0009 a0002c0010 a0002c0017 a0002c0052 a0003c0041 a0003c0047 a0007c0050 a0008c0039 a0011c0067	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(48): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0052 a0001c0002t0001 a0001c0002t0006 a0001c0002t0007 a0001c0002t0017 a0001c0002t0029 a0001c0003t0001 a0001c0003t0014 a0001c0003t0023 a0001c0003t0033 a0001c0004t0001 a0001c0004t0003 a0001c0004t0010 a0001c0004t0011 a0001c0004t0048 a0001c0005t0002 a0001c0005t0005 a0001c0005t0016 a0001c0005t0031 a0001c0006t0003 a0001c0007t0005 a0001c0008t0043 a0001c0011t0002 a0001c0012t0005 a0001c0012t0006 a0001c0012t0039 a0001c0016t0042 a0001c0018t0047 a0001c0019t0005 a0001c0019t0011 a0001c0020t0001 a0001c0021t0006 a0001c0022t0002 a0001c0035t0027 a0001c0040t0005 a0001c0042t0025 a0001c0043t0054 a0001c0045t0001 a0001c0048t0012 a0002c0009t0041 a0002c0010t0007 a0002c0017t0018 a0002c0052t0001 a0003c0041t0003 a0003c0047t0004 a0007c0050t0003 a0008c0039t0001 a0011c0067t0003	a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0040 others(56): Show a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0064 a0001c0001t0003g0065 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0010g0127 a0001c0001t0052g0134 a0001c0002t0001g0071 a0001c0002t0006g0015 a0001c0002t0007g0014 a0001c0002t0017g0070 a0001c0002t0029g0072 a0001c0003t0001g0037 a0001c0003t0001g0061 a0001c0003t0014g0038 a0001c0003t0014g0099 a0001c0003t0023g0135 a0001c0003t0033g0081 a0001c0004t0001g0018 a0001c0004t0003g0093 a0001c0004t0010g0118 a0001c0004t0011g0128 a0001c0004t0048g0115 a0001c0005t0002g0039 a0001c0005t0005g0086 a0001c0005t0016g0025 a0001c0005t0031g0104 a0001c0006t0003g0048 a0001c0007t0005g0041 a0001c0008t0043g0111 a0001c0011t0002g0035 a0001c0012t0005g0023 a0001c0012t0006g0080 a0001c0012t0039g0079 a0001c0016t0042g0107 a0001c0018t0047g0112 a0001c0019t0005g0042 a0001c0019t0011g0119 a0001c0020t0001g0085 a0001c0021t0006g0033 a0001c0022t0002g0004 a0001c0035t0027g0026 a0001c0040t0005g0019 a0001c0042t0025g0001 a0001c0043t0054g0140 a0001c0045t0001g0098 a0001c0048t0012g0084 a0002c0009t0041g0110 a0002c0010t0007g0083 a0002c0017t0018g0108 a0002c0017t0018g0109 a0002c0052t0001g0073 a0003c0041t0003g0091 a0003c0047t0004g0076 a0007c0050t0003g0016 a0008c0039t0001g0022 a0011c0067t0003g0007	59	142	0.4155	-24	c.163 others(41): Show c.163+4781_163+4804delAGTAGGGGCGGCCGGGCAGAGGCG	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26785479	GCGCCTCT others(17): Show GCGCCTCTGCCCGGCCGCCCCTACT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01192.hp1 HG02922.hp2 HG00738.hp2 HG01192.hp1 HG02922.hp2	a0001 a0001	a0001c0008 a0001c0015 a0001c0008 a0001c0015	a0001c0008t0037 a0001c0015t0004 a0001c0015t0044 a0001c0008t0037 a0001c0015t0004 a0001c0015t0044	a0001c0008t0037g0031 a0001c0015t0004g0006 a0001c0015t0044g0106 a0001c0008t0037g0031 a0001c0015t0004g0006 a0001c0015t0044g0106	3	142	0.0211	-24	c.163 others(41): Show c.163+4654_163+4677delAGTAGGGGCGGCCGGGCAGAGGCG	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26831687	TATATATT others(17): Show TATATATTCTACATAAAATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp1 HG00738.hp2 others(14): Show HG00323.hp1 HG00738.hp1 HG00738.hp2 HG02040.hp2 HG02055.hp2 HG02257.hp2 HG02451.hp2 HG02523.hp2 HG02965.hp2 HG03453.hp2 HG03492.hp1 HG03516.hp2 HG03704.hp1 NA18747.hp2 NA18956.hp1 NA18960.hp1 NA20300.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0004 a0001c0005 others(13): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0012 a0001c0013 a0001c0016 a0001c0021 a0001c0022 a0001c0035 a0001c0040 a0001c0064 a0002c0009 a0002c0010 a0008c0039	a0001c0001t0001 a0001c0004t0001 a0001c0005t0016 others(13): Show a0001c0001t0001 a0001c0004t0001 a0001c0005t0016 a0001c0006t0030 a0001c0008t0037 a0001c0012t0005 a0001c0013t0002 a0001c0016t0003 a0001c0021t0006 a0001c0022t0002 a0001c0035t0027 a0001c0040t0005 a0001c0064t0008 a0002c0009t0001 a0002c0010t0016 a0008c0039t0001	a0001c0001t0001g0021 a0001c0004t0001g0018 a0001c0005t0016g0025 others(14): Show a0001c0001t0001g0021 a0001c0004t0001g0018 a0001c0005t0016g0025 a0001c0006t0030g0030 a0001c0008t0037g0031 a0001c0012t0005g0023 a0001c0013t0002g0020 a0001c0016t0003g0032 a0001c0021t0006g0033 a0001c0022t0002g0004 a0001c0035t0027g0026 a0001c0040t0005g0019 a0001c0064t0008g0024 a0002c0009t0001g0027 a0002c0009t0001g0029 a0002c0010t0016g0028 a0008c0039t0001g0022	17	142	0.1197	-24	c.92+ others(38): Show c.92+979_92+1002delTTATATATTTTATGTAGAATATAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	1/56			chr12	TogoVar
ITPRID1_chr7_31509090_31661504	31520515	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01069.hp2 HG01081.hp2 others(41): Show HG00621.hp1 HG01069.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01255.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp2 HG01981.hp2 HG02055.hp2 HG02083.hp1 HG02257.hp1 HG02280.hp1 HG02486.hp1 HG02615.hp1 HG02622.hp1 HG02717.hp1 HG02735.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp2 HG03831.hp1 NA18969.hp2 NA18982.hp2 NA18984.hp1 NA19043.hp1 NA19088.hp1 NA20129.hp2	a0002 a0003 a0006 others(5): Show a0002 a0003 a0006 a0007 a0012 a0014 a0016 a0025	a0002c0001 a0002c0004 a0002c0038 others(9): Show a0002c0001 a0002c0004 a0002c0038 a0003c0008 a0003c0012 a0003c0021 a0006c0022 a0007c0013 a0012c0037 a0014c0024 a0016c0023 a0025c0032	a0002c0001t0001 a0002c0001t0002 a0002c0001t0007 others(17): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0007 a0002c0001t0010 a0002c0001t0014 a0002c0001t0015 a0002c0001t0016 a0002c0004t0001 a0002c0004t0002 a0002c0038t0001 a0003c0008t0003 a0003c0012t0006 a0003c0012t0024 a0003c0021t0006 a0006c0022t0004 a0007c0013t0008 a0012c0037t0026 a0014c0024t0006 a0016c0023t0001 a0025c0032t0008	a0002c0001t0001g0248 a0002c0001t0001g0279 a0002c0001t0002g0242 others(40): Show a0002c0001t0001g0248 a0002c0001t0001g0279 a0002c0001t0002g0242 a0002c0001t0002g0247 a0002c0001t0002g0254 a0002c0001t0002g0257 a0002c0001t0002g0286 a0002c0001t0007g0239 a0002c0001t0007g0277 a0002c0001t0010g0003 a0002c0001t0010g0261 a0002c0001t0010g0273 a0002c0001t0010g0274 a0002c0001t0014g0272 a0002c0001t0015g0271 a0002c0001t0016g0269 a0002c0004t0001g0237 a0002c0004t0001g0243 a0002c0004t0001g0252 a0002c0004t0001g0263 a0002c0004t0001g0270 a0002c0004t0001g0280 a0002c0004t0001g0282 a0002c0004t0002g0238 a0002c0004t0002g0255 a0002c0004t0002g0260 a0002c0038t0001g0236 a0003c0008t0003g0264 a0003c0012t0006g0245 a0003c0012t0006g0278 a0003c0012t0024g0256 a0003c0021t0006g0262 a0006c0022t0004g0249 a0007c0013t0008g0250 a0007c0013t0008g0251 a0007c0013t0008g0258 a0007c0013t0008g0265 a0007c0013t0008g0266 a0012c0037t0026g0008 a0014c0024t0006g0253 a0016c0023t0001g0244 a0016c0023t0001g0259 a0025c0032t0008g0268	44	312	0.1410	-24	c.-98 others(41): Show c.-98+6422_-98+6445delTGTGTGTGTGTGTGTGTGTGTGTG	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31520548	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03225.hp2 HG03041.hp1 HG03225.hp2	a0005 a0010 a0005 a0010	a0005c0009 a0010c0029 a0005c0009 a0010c0029	a0005c0009t0004 a0010c0029t0005 a0005c0009t0004 a0010c0029t0005	a0005c0009t0004g0048 a0010c0029t0005g0013 a0005c0009t0004g0048 a0010c0029t0005g0013	2	312	0.0064	-24	c.-98 others(41): Show c.-98+6430_-98+6453delTGTGTGTGTGTGTGTGAGAGAGAG	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31521615	TTTCCCTC others(17): Show TTTCCCTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00558.hp2 others(42): Show HG00140.hp1 HG00408.hp1 HG00558.hp2 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01261.hp2 HG01361.hp2 HG01433.hp2 HG01516.hp2 HG01517.hp2 HG02080.hp1 HG02129.hp1 HG02145.hp1 HG02523.hp1 HG02698.hp1 HG02723.hp1 HG02896.hp2 HG03041.hp1 HG03209.hp1 HG03225.hp2 HG03490.hp2 HG03927.hp2 HG06807.hp2 NA18747.hp2 NA18945.hp2 NA18951.hp2 NA18960.hp2 NA18981.hp2 NA18989.hp1 NA18991.hp2 NA19011.hp1 NA19058.hp1 NA19060.hp2 NA19065.hp2 NA19079.hp2 NA19082.hp1 NA19090.hp1 NA20300.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0009 a0010 a0017 a0018	a0001c0002 a0001c0003 a0001c0011 others(8): Show a0001c0002 a0001c0003 a0001c0011 a0002c0001 a0004c0028 a0005c0009 a0005c0050 a0009c0019 a0010c0029 a0017c0048 a0018c0049	a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 others(17): Show a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0003t0019 a0001c0003t0020 a0001c0003t0021 a0001c0011t0002 a0002c0001t0001 a0002c0001t0002 a0002c0001t0007 a0004c0028t0003 a0005c0009t0004 a0005c0009t0029 a0005c0050t0004 a0009c0019t0004 a0010c0029t0005 a0017c0048t0001 a0018c0049t0011	a0001c0002t0002g0068 a0001c0002t0003g0023 a0001c0003t0001g0005 others(41): Show a0001c0002t0002g0068 a0001c0002t0003g0023 a0001c0003t0001g0005 a0001c0003t0001g0039 a0001c0003t0001g0042 a0001c0003t0001g0051 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0057 a0001c0003t0001g0062 a0001c0003t0001g0064 a0001c0003t0001g0067 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0002g0021 a0001c0003t0002g0035 a0001c0003t0002g0066 a0001c0003t0002g0074 a0001c0003t0007g0063 a0001c0003t0019g0045 a0001c0003t0020g0034 a0001c0003t0021g0079 a0001c0011t0002g0029 a0002c0001t0001g0026 a0002c0001t0002g0009 a0002c0001t0002g0027 a0002c0001t0007g0046 a0004c0028t0003g0080 a0005c0009t0004g0001 a0005c0009t0004g0018 a0005c0009t0004g0041 a0005c0009t0004g0048 a0005c0009t0029g0061 a0005c0050t0004g0081 a0009c0019t0004g0040 a0009c0019t0004g0052 a0010c0029t0005g0013 a0010c0029t0005g0024 a0017c0048t0001g0004 a0018c0049t0011g0030	45	312	0.1442	-24	c.-98 others(41): Show c.-98+7500_-98+7523delCTCCTTCCTTCCTTCCTTCCTTCC	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31521620	CTCCTTCC others(17): Show CTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG02004.hp2 others(3): Show HG01256.hp2 HG01258.hp2 HG02004.hp2 HG02293.hp1 HG02622.hp2 HG02683.hp1	a0003 a0003	a0003c0008 a0003c0021 a0003c0008 a0003c0021	a0003c0008t0003 a0003c0021t0006 a0003c0008t0003 a0003c0021t0006	a0003c0008t0003g0002 a0003c0008t0003g0006 a0003c0008t0003g0160 others(2): Show a0003c0008t0003g0002 a0003c0008t0003g0006 a0003c0008t0003g0160 a0003c0008t0003g0161 a0003c0021t0006g0225	6	312	0.0192	-24	c.-98 others(41): Show c.-98+7545_-98+7568delTCCTTCCTTCCTTCCTTCCTTCCT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRIPL1_chr2_96320317_96333353	96329149	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	364	0.0028	-24	c.85 others(33): Show c.851_*874delTATATATATATATATATATATATA	ITPRIPL1	ENSG00000198885.10	transcript	ENST00000439118.3	protein_coding		797		chr2	TogoVar
ITPRIP_chr10_104304700_104343465	104306052	TGTGCGCG others(17): Show TGTGCGCGCGCGCGCGCGCGTGCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01884.hp1 HG02109.hp1 others(4): Show HG00323.hp1 HG01884.hp1 HG02109.hp1 HG03130.hp1 HG03225.hp1 HG03654.hp1 HG03654.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0036 a0002c0003t0009	a0001c0001t0002g0059 a0001c0001t0002g0095 a0001c0001t0003g0191 others(3): Show a0001c0001t0002g0059 a0001c0001t0002g0095 a0001c0001t0003g0191 a0001c0001t0009g0081 a0001c0001t0036g0125 a0002c0003t0009g0018	7	324	0.0216	-24	c.83 others(35): Show c.8332_*8355delGCGCACGCGCGCGCGCGCGCGCAC	ITPRIP	ENSG00000148841.17	transcript	ENST00000337478.3	protein_coding		3647		chr10	TogoVar
ITSN1_chr21_33637501_33904861	33690775	GTATATAT others(17): Show GTATATATATATATACATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02922.hp2 HG03834.hp2 others(3): Show HG01433.hp2 HG02922.hp2 HG03834.hp2 HG04115.hp1 NA18998.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0037 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0037 a0001c0002t0023 a0001c0002t0039	a0001c0001t0001g0027 a0001c0001t0003g0047 a0001c0001t0003g0095 others(3): Show a0001c0001t0001g0027 a0001c0001t0003g0047 a0001c0001t0003g0095 a0001c0001t0037g0117 a0001c0002t0023g0119 a0001c0002t0039g0239	6	242	0.0248	-24	c.-32 others(43): Show c.-32-28007_-32-27984delCATATATATATATATATATATATA	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
ITSN2_chr2_24197864_24365536	24223847	AAAGAAAG others(17): Show AAAGAAAGAAAGAAAGGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0015 a0015	a0015c0020 a0015c0020	a0015c0020t0001 a0015c0020t0001	a0015c0020t0001g0078 a0015c0020t0001g0078	1	224	0.0045	-24	c.357 others(43): Show c.3578-2805_3578-2782delCTTTCTTTCCTTTCTTTCTTTCTT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	29/39			chr2	TogoVar
IYD_chr6_150364012_150410969	150388630	GCTTTCTT others(17): Show GCTTTCTTTCTTTCTTTCTTTCTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(101): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01261.hp1 HG01358.hp2 HG01496.hp2 HG01517.hp2 HG01884.hp1 HG01934.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02615.hp1 HG02622.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03017.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG04184.hp2 HG04204.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18955.hp2 NA18964.hp2 NA18975.hp1 NA18982.hp1 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18994.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19064.hp2 NA19076.hp2 NA19080.hp1 NA19082.hp2 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0005c0005 a0006c0006 a0001c0001 a0005c0005 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0030 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0070 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0005c0005t0001 a0006c0006t0055	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(79): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0071 a0001c0001t0001g0087 a0001c0001t0001g0114 a0001c0001t0001g0125 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0301 a0001c0001t0001g0307 a0001c0001t0001g0314 a0001c0001t0002g0248 a0001c0001t0002g0264 a0001c0001t0010g0001 a0001c0001t0010g0016 a0001c0001t0010g0052 a0001c0001t0010g0277 a0001c0001t0010g0300 a0001c0001t0014g0029 a0001c0001t0014g0151 a0001c0001t0014g0299 a0001c0001t0015g0007 a0001c0001t0015g0256 a0001c0001t0015g0281 a0001c0001t0015g0282 a0001c0001t0015g0283 a0001c0001t0030g0298 a0001c0001t0033g0049 a0001c0001t0034g0261 a0001c0001t0034g0293 a0001c0001t0035g0001 a0001c0001t0035g0265 a0001c0001t0036g0257 a0001c0001t0037g0053 a0001c0001t0070g0315 a0001c0001t0073g0007 a0001c0001t0074g0030 a0001c0001t0075g0275 a0001c0001t0076g0001 a0001c0001t0077g0001 a0001c0001t0078g0260 a0001c0001t0079g0286 a0001c0001t0080g0088 a0001c0001t0082g0304 a0001c0001t0083g0006 a0001c0001t0084g0287 a0001c0001t0085g0046 a0001c0001t0086g0048 a0001c0001t0087g0030 a0001c0001t0088g0297 a0001c0001t0089g0054 a0001c0001t0090g0001 a0005c0005t0001g0069 a0005c0005t0001g0070 a0005c0005t0001g0093 a0006c0006t0055g0295	104	414	0.2512	-24	c.179 others(39): Show c.179-690_179-667delTCTTTCTTTCTTTCTTTCTTTCTT	IYD	ENSG00000009765.15	transcript	ENST00000344419.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
IZUMO2_chr19_50147548_50168281	50163949	TATATATA others(17): Show TATATATATATATATATATATATAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	394	0.0025	-24	c.-77 others(33): Show c.-779_-756delCTATATATATATATATATATATAT	IZUMO2	ENSG00000161652.13	transcript	ENST00000293405.8	protein_coding		669		chr19	TogoVar
IZUMO2_chr19_50147548_50168281	50163959	TATATATA others(17): Show TATATATATATATAGAGAGAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	394	0.0025	-24	c.-78 others(33): Show c.-789_-766delCTCTCTCTCTCTATATATATATAT	IZUMO2	ENSG00000161652.13	transcript	ENST00000293405.8	protein_coding		679		chr19	TogoVar
IZUMO2_chr19_50147548_50168281	50163963	TATATATA others(17): Show TATATATATAGAGAGAGAGAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00408.hp2 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0052 a0001c0001t0001g0037 a0001c0001t0001g0052	2	394	0.0051	-24	c.-79 others(33): Show c.-793_-770delCTCTCTCTCTCTCTCTATATATAT	IZUMO2	ENSG00000161652.13	transcript	ENST00000293405.8	protein_coding		683		chr19	TogoVar
IZUMO3_chr9_24537952_24550897	24546367	CCCTTCCT others(17): Show CCCTTCCTTCCTTCCTTCCTTCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG00609.hp1 others(21): Show HG00408.hp2 HG00597.hp2 HG00609.hp1 HG02071.hp1 HG02148.hp2 HG02300.hp2 HG02523.hp1 HG03704.hp1 HG03834.hp2 HG04115.hp1 NA18941.hp2 NA18950.hp1 NA18962.hp2 NA18968.hp1 NA18973.hp1 NA18974.hp2 NA18978.hp2 NA18986.hp1 NA18995.hp2 NA19001.hp2 NA19010.hp2 NA19074.hp2 NA19079.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0018 a0002c0003t0001g0039	24	426	0.0563	-24	c.-74 others(33): Show c.-742_-719delAAGGAAGGAAGGAAGGAAGGAAGG	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		471		chr9	TogoVar
IZUMO4_chr19_2091915_2104590	2102728	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01168.hp1 HG01433.hp2 others(1): Show HG01074.hp1 HG01168.hp1 HG01433.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0004g0001 a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0004g0001	4	454	0.0088	-24	c.33 others(35): Show c.3384_*3407delAAATAAATAAATAAATAAATAAAT	IZUMO4	ENSG00000099840.14	transcript	ENST00000395301.8	protein_coding		3139		chr19	TogoVar
JADE1_chr4_128804700_128880224	128850206	ATCACTTG others(17): Show ATCACTTGAGGTGATTCTTCTCAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00558.hp1 others(49): Show HG00140.hp1 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG00642.hp2 HG01074.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01943.hp2 HG01981.hp1 HG02027.hp1 HG02080.hp2 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02451.hp1 HG02698.hp1 HG02723.hp1 HG02818.hp2 HG02897.hp2 HG02922.hp1 HG03041.hp1 HG03486.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG06807.hp1 NA18941.hp1 NA18967.hp1 NA18974.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp2 NA19062.hp1 NA19063.hp1 NA19078.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0019 a0001c0001t0036 a0001c0001t0037 a0001c0007t0002	a0001c0001t0001g0215 a0001c0001t0002g0067 a0001c0001t0002g0068 others(43): Show a0001c0001t0001g0215 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0035 a0001c0001t0003g0075 a0001c0001t0003g0163 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0216 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0228 a0001c0001t0003g0231 a0001c0001t0006g0130 a0001c0001t0006g0131 a0001c0001t0006g0132 a0001c0001t0006g0133 a0001c0001t0006g0136 a0001c0001t0006g0137 a0001c0001t0006g0138 a0001c0001t0006g0197 a0001c0001t0010g0025 a0001c0001t0010g0026 a0001c0001t0019g0117 a0001c0001t0036g0134 a0001c0001t0037g0135 a0001c0007t0002g0066	52	278	0.1871	-24	c.484 others(41): Show c.484+1050_484+1073delTGATTCTTCTCAAGTCACTTGAGG	JADE1	ENSG00000077684.16	transcript	ENST00000226319.11	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
JADE3_chrX_46907421_47066242	46911420	CATATATA others(17): Show CATATATATATACACACACACATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01884.hp2 others(1): Show HG01167.hp1 HG01169.hp1 HG01884.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081	4	258	0.0155	-24	c.-13 others(35): Show c.-1310_-1287delATATATATATACACACACACATAT	JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding		1000		chrX	TogoVar
JAG1_chr20_10632684_10678999	10669547	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0026 a0001c0003t0003g0026	1	412	0.0024	-24	c.387 others(41): Show c.387+3130_387+3153delTTTTTTTTTTTTTTTTTTTTTTTT	JAG1	ENSG00000101384.12	transcript	ENST00000254958.10	protein_coding	2/25			chr20	TogoVar
JAG1_chr20_10632684_10678999	10674521	TGCTGGCG others(17): Show TGCTGGCGGCAGAGGCGGCGGCGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	412	0.0024	-24	c.-10 others(34): Show c.-1015_-992delCTCGCCGCCGCCTCTGCCGCCAGC	JAG1	ENSG00000101384.12	transcript	ENST00000254958.10	protein_coding		523		chr20	TogoVar
JAK1_chr1_64828229_64971549	64878559	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03471.hp2 HG02559.hp1 HG03471.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0295 a0001c0005t0001g0296 a0001c0005t0001g0295 a0001c0005t0001g0296	2	326	0.0061	-24	c.329 others(39): Show c.329+442_329+465delTATATATATATATATATATATACA	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	4/24			chr1	TogoVar
JAK1_chr1_64828229_64971549	64878561	GTATATAT others(17): Show GTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0187 a0001c0003t0001g0187	1	326	0.0031	-24	c.329 others(39): Show c.329+440_329+463delTATATATATATATATATATATATA	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	4/24			chr1	TogoVar
JAK1_chr1_64828229_64971549	64897519	GGAGGGGG others(17): Show GGAGGGGGAGGGAGGAGGAGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0268 a0001c0005t0001g0268	1	326	0.0031	-24	c.-77 others(43): Show c.-77-11202_-77-11179delTCCTCCTCCTCCTCCCTCCCCCTC	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK1_chr1_64828229_64971549	64897525	GGAGGGAG others(17): Show GGAGGGAGGAGGAGGAGGAGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00438.hp2 others(59): Show HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00673.hp2 HG00738.hp1 HG01069.hp2 HG01099.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01891.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02451.hp2 HG02602.hp2 HG02647.hp1 HG02723.hp2 HG02895.hp1 HG02897.hp2 HG03098.hp1 HG03098.hp2 HG03453.hp2 HG03704.hp1 HG03710.hp2 HG03942.hp2 NA18747.hp1 NA18941.hp1 NA18942.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18953.hp2 NA18961.hp1 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18983.hp1 NA18993.hp2 NA18995.hp2 NA19012.hp1 NA19066.hp2 NA19067.hp2 NA19077.hp2 NA19078.hp1 NA19088.hp2 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0012 others(1): Show a0001c0002 a0001c0003 a0001c0012 a0001c0014	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0006 a0001c0012t0001 a0001c0014t0002	a0001c0002t0001g0226 a0001c0002t0001g0318 a0001c0002t0002g0241 others(59): Show a0001c0002t0001g0226 a0001c0002t0001g0318 a0001c0002t0002g0241 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0003t0001g0002 a0001c0003t0001g0021 a0001c0003t0001g0022 a0001c0003t0001g0024 a0001c0003t0001g0032 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0039 a0001c0003t0001g0072 a0001c0003t0001g0075 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0001g0081 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0170 a0001c0003t0001g0187 a0001c0003t0001g0205 a0001c0003t0001g0230 a0001c0003t0001g0231 a0001c0003t0001g0233 a0001c0003t0001g0234 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0237 a0001c0003t0001g0238 a0001c0003t0001g0239 a0001c0003t0001g0240 a0001c0003t0001g0243 a0001c0003t0001g0246 a0001c0003t0001g0248 a0001c0003t0001g0250 a0001c0003t0001g0252 a0001c0003t0001g0271 a0001c0003t0001g0286 a0001c0003t0001g0287 a0001c0003t0001g0288 a0001c0003t0001g0289 a0001c0003t0001g0290 a0001c0003t0001g0291 a0001c0003t0001g0292 a0001c0003t0001g0306 a0001c0003t0001g0308 a0001c0003t0001g0309 a0001c0003t0001g0310 a0001c0003t0001g0312 a0001c0003t0001g0315 a0001c0003t0001g0316 a0001c0003t0001g0319 a0001c0003t0001g0321 a0001c0003t0001g0322 a0001c0003t0001g0326 a0001c0003t0006g0141 a0001c0003t0006g0158 a0001c0012t0001g0096 a0001c0014t0002g0038	62	326	0.1902	-24	c.-77 others(43): Show c.-77-11208_-77-11185delTCCTCCTCCTCCTCCTCCTCCCTC	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK1_chr1_64828229_64971549	64946752	TATTTGCA others(17): Show TATTTGCAAACCCATGTTCATAGAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00438.hp1 others(110): Show HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01099.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01433.hp1 HG01891.hp1 HG01934.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03710.hp2 HG03831.hp1 NA18747.hp1 NA18941.hp1 NA18942.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18957.hp1 NA18961.hp1 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18970.hp2 NA18972.hp1 NA18975.hp2 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18989.hp2 NA18995.hp2 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19066.hp2 NA19067.hp2 NA19074.hp1 NA19077.hp2 NA19081.hp1 NA19083.hp2 NA19088.hp1 NA20752.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0014 a0003c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0014 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0005t0001 a0001c0007t0001 a0001c0014t0002 a0003c0013t0001	a0001c0001t0001g0186 a0001c0001t0001g0254 a0001c0001t0001g0266 others(110): Show a0001c0001t0001g0186 a0001c0001t0001g0254 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0282 a0001c0001t0001g0293 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0013g0255 a0001c0001t0014g0267 a0001c0002t0001g0232 a0001c0002t0001g0256 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0311 a0001c0002t0001g0318 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0247 a0001c0002t0002g0249 a0001c0002t0002g0270 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0294 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0305 a0001c0002t0002g0307 a0001c0002t0002g0320 a0001c0003t0001g0002 a0001c0003t0001g0019 a0001c0003t0001g0021 a0001c0003t0001g0022 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0032 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0039 a0001c0003t0001g0075 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0001g0230 a0001c0003t0001g0231 a0001c0003t0001g0233 a0001c0003t0001g0234 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0237 a0001c0003t0001g0238 a0001c0003t0001g0239 a0001c0003t0001g0240 a0001c0003t0001g0243 a0001c0003t0001g0246 a0001c0003t0001g0248 a0001c0003t0001g0250 a0001c0003t0001g0251 a0001c0003t0001g0252 a0001c0003t0001g0257 a0001c0003t0001g0271 a0001c0003t0001g0286 a0001c0003t0001g0287 a0001c0003t0001g0288 a0001c0003t0001g0289 a0001c0003t0001g0290 a0001c0003t0001g0291 a0001c0003t0001g0292 a0001c0003t0001g0297 a0001c0003t0001g0306 a0001c0003t0001g0308 a0001c0003t0001g0309 a0001c0003t0001g0310 a0001c0003t0001g0312 a0001c0003t0001g0315 a0001c0003t0001g0316 a0001c0003t0001g0317 a0001c0003t0001g0319 a0001c0003t0001g0321 a0001c0003t0001g0322 a0001c0003t0001g0326 a0001c0005t0001g0260 a0001c0005t0001g0261 a0001c0005t0001g0262 a0001c0005t0001g0268 a0001c0005t0001g0295 a0001c0005t0001g0296 a0001c0005t0001g0302 a0001c0007t0001g0265 a0001c0007t0001g0323 a0001c0014t0002g0038 a0003c0013t0001g0253	113	326	0.3466	-24	c.-78 others(43): Show c.-78+19557_-78+19580delTTCTATGAACATGGGTTTGCAAAT	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK2_chr9_4980272_5134948	5005083	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01074.hp1 HG01167.hp1 others(2): Show HG01070.hp1 HG01074.hp1 HG01167.hp1 HG01169.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0007 a0001c0001t0010 a0001c0007t0040 a0001c0001t0007 a0001c0001t0010 a0001c0007t0040	a0001c0001t0007g0159 a0001c0001t0010g0065 a0001c0001t0010g0066 others(2): Show a0001c0001t0007g0159 a0001c0001t0010g0065 a0001c0001t0010g0066 a0001c0001t0010g0067 a0001c0007t0040g0068	5	364	0.0137	-24	c.-25 others(43): Show c.-25-16854_-25-16831delTTTTTTTTTTTTTTTTTTTTTTTT	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
JAKMIP1_chr4_6021199_6205549	6169961	TCACCACC others(17): Show TCACCACCACCACCACCACTACCAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp2 HG02622.hp2 others(7): Show HG02486.hp1 HG02615.hp2 HG02622.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp2 HG03471.hp1 HG03486.hp2 NA18522.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0063 a0001c0001t0001g0092 others(7): Show a0001c0001t0001g0006 a0001c0001t0001g0063 a0001c0001t0001g0092 a0001c0001t0001g0164 a0001c0001t0001g0186 a0001c0001t0001g0207 a0001c0001t0001g0217 a0001c0001t0002g0228 a0001c0002t0001g0048 a0001c0002t0001g0165	10	233	0.0429	-24	c.-14 others(45): Show c.-148+30268_-148+30291delGTGGTAGTGGTGGTGGTGGTGGTG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	1/20			chr4	TogoVar
JAKMIP2_chr5_147580438_147787728	147690539	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp2 HG01261.hp1 others(20): Show HG00140.hp1 HG00738.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp2 HG01884.hp1 HG01993.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02683.hp2 HG02717.hp1 HG02809.hp2 HG02895.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03486.hp1 HG03540.hp1 NA18522.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0002t0041 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0041 a0001c0002t0082 a0001c0005t0004 a0001c0005t0017 a0001c0007t0007 a0001c0007t0066 a0001c0007t0067	a0001c0001t0001g0046 a0001c0002t0001g0005 a0001c0002t0001g0084 others(20): Show a0001c0001t0001g0046 a0001c0002t0001g0005 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0041g0039 a0001c0002t0082g0245 a0001c0005t0004g0037 a0001c0005t0004g0043 a0001c0005t0004g0044 a0001c0005t0004g0057 a0001c0005t0004g0066 a0001c0005t0004g0162 a0001c0005t0017g0188 a0001c0005t0017g0189 a0001c0005t0017g0190 a0001c0007t0007g0163 a0001c0007t0007g0166 a0001c0007t0007g0168 a0001c0007t0007g0169 a0001c0007t0007g0170 a0001c0007t0007g0171 a0001c0007t0066g0074 a0001c0007t0067g0165	23	250	0.0920	-24	c.-14 others(45): Show c.-148-18609_-148-18586delTATATATATATATATATATATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147743999	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03540.hp1 HG02895.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0084 a0001c0002t0001g0085	2	250	0.0080	-24	c.-14 others(45): Show c.-149+38433_-149+38456delGGAAGGAAGGAAGGAAGGAAGGAA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147764945	AGGGAGAG others(17): Show AGGGAGAGAGAGAGAGAGAGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0050 a0001c0002t0050	a0001c0002t0050g0093 a0001c0002t0050g0093	1	250	0.0040	-24	c.-14 others(45): Show c.-149+17487_-149+17510delCCCCTCTCTCTCTCTCTCTCTCCC	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132117586	GGCAGGGG others(17): Show GGCAGGGGCGGGCGTGGGCGAGGGT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00597.hp1 others(65): Show HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG01109.hp2 HG01243.hp1 HG01346.hp1 HG01361.hp1 HG01884.hp1 HG01981.hp1 HG02027.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02615.hp2 HG02647.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18944.hp2 NA18952.hp2 NA18954.hp1 NA18960.hp1 NA18960.hp2 NA18966.hp2 NA18971.hp1 NA18983.hp1 NA19004.hp2 NA19043.hp1 NA19043.hp2 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009	a0001c0001 a0001c0006 a0001c0013 others(29): Show a0001c0001 a0001c0006 a0001c0013 a0001c0015 a0001c0017 a0001c0019 a0001c0022 a0001c0034 a0001c0040 a0001c0042 a0002c0005 a0002c0008 a0002c0010 a0002c0016 a0002c0031 a0002c0047 a0003c0002 a0003c0018 a0003c0021 a0003c0038 a0004c0007 a0004c0011 a0004c0024 a0004c0030 a0004c0033 a0004c0035 a0004c0036 a0004c0045 a0004c0046 a0005c0050 a0006c0044 a0009c0041	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0021 a0001c0006t0025 a0001c0013t0001 a0001c0013t0024 a0001c0015t0002 a0001c0015t0005 a0001c0015t0028 a0001c0017t0005 a0001c0017t0027 a0001c0019t0015 a0001c0022t0002 a0001c0034t0001 a0001c0040t0002 a0001c0042t0023 a0002c0005t0005 a0002c0005t0010 a0002c0005t0019 a0002c0008t0004 a0002c0008t0018 a0002c0010t0002 a0002c0016t0006 a0002c0016t0014 a0002c0031t0039 a0002c0047t0022 a0003c0002t0001 a0003c0002t0002 a0003c0018t0002 a0003c0021t0001 a0003c0038t0001 a0004c0007t0001 a0004c0007t0002 a0004c0011t0001 a0004c0011t0040 a0004c0024t0002 a0004c0024t0006 a0004c0030t0030 a0004c0033t0002 a0004c0035t0005 a0004c0036t0001 a0004c0045t0001 a0004c0046t0007 a0005c0050t0034 a0006c0044t0002 a0009c0041t0029	a0001c0001t0001g0116 a0001c0001t0002g0007 a0001c0001t0002g0027 others(65): Show a0001c0001t0001g0116 a0001c0001t0002g0007 a0001c0001t0002g0027 a0001c0001t0002g0105 a0001c0001t0002g0132 a0001c0001t0002g0146 a0001c0001t0002g0156 a0001c0001t0003g0102 a0001c0001t0004g0127 a0001c0001t0005g0137 a0001c0001t0021g0119 a0001c0006t0025g0153 a0001c0013t0001g0094 a0001c0013t0001g0129 a0001c0013t0024g0078 a0001c0015t0002g0018 a0001c0015t0005g0140 a0001c0015t0028g0017 a0001c0017t0005g0079 a0001c0017t0027g0012 a0001c0019t0015g0085 a0001c0022t0002g0062 a0001c0022t0002g0080 a0001c0034t0001g0021 a0001c0040t0002g0025 a0001c0042t0023g0126 a0002c0005t0005g0130 a0002c0005t0010g0095 a0002c0005t0019g0138 a0002c0008t0004g0128 a0002c0008t0018g0120 a0002c0010t0002g0157 a0002c0010t0002g0158 a0002c0016t0006g0052 a0002c0016t0014g0143 a0002c0016t0014g0144 a0002c0031t0039g0088 a0002c0047t0022g0045 a0003c0002t0001g0013 a0003c0002t0001g0034 a0003c0002t0001g0109 a0003c0002t0001g0110 a0003c0002t0001g0112 a0003c0002t0001g0113 a0003c0002t0002g0107 a0003c0002t0002g0111 a0003c0018t0002g0028 a0003c0018t0002g0117 a0003c0021t0001g0022 a0003c0021t0001g0023 a0003c0038t0001g0024 a0004c0007t0001g0122 a0004c0007t0002g0121 a0004c0011t0001g0118 a0004c0011t0001g0135 a0004c0011t0001g0136 a0004c0011t0040g0060 a0004c0024t0002g0151 a0004c0024t0006g0148 a0004c0030t0030g0084 a0004c0033t0002g0029 a0004c0035t0005g0020 a0004c0036t0001g0039 a0004c0045t0001g0090 a0004c0046t0007g0091 a0005c0050t0034g0115 a0006c0044t0002g0031 a0009c0041t0029g0019	68	158	0.4304	-24	c.633 others(37): Show c.633+66_633+89delGGCGGGCGTGGGCGAGGGTGCAGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160293	GGGGTCTA others(17): Show GGGGTCTATTCCTGTGTCTTATTGA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01361.hp1 HG01109.hp2 HG01361.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0019 a0002c0005t0005 a0002c0005t0019	a0002c0005t0005g0130 a0002c0005t0019g0138 a0002c0005t0005g0130 a0002c0005t0019g0138	2	158	0.0127	-24	c.222 others(43): Show c.2221-2912_2221-2889delTCTATTCCTGTGTCTTATTGAGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132171962	TCTTGCAT others(17): Show TCTTGCATAATCATGATAGATTTTC	T T	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0004 a0004	a0004c0033 a0004c0033	a0004c0033t0002 a0004c0033t0002	a0004c0033t0002g0029 a0004c0033t0002g0029	1	158	0.0063	-24	c.11 others(45): Show c.1103+2930_*1103+2953delCTTGCATAATCATGATAGATTTTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23			chr10	TogoVar
JAM3_chr11_134064072_134157001	134154531	CGGGTGGT others(17): Show CGGGTGGTGCAGCCTCACCCCTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG03139.hp2 HG03471.hp2 HG02257.hp2 HG03139.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0049 a0001c0001t0027 a0001c0001t0049	a0001c0001t0027g0294 a0001c0001t0027g0295 a0001c0001t0049g0293 a0001c0001t0027g0294 a0001c0001t0027g0295 a0001c0001t0049g0293	3	390	0.0077	-24	c.53 others(35): Show c.5351_*5374delGGGTGGTGCAGCCTCACCCCTCCT	JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding		2531		chr11	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)