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 (≤).

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⚠️ 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
ISM1_chr20_13216274_13305651	13221212	C C	CCCTCCTC others(17): Show CCCTCCTCCTCCTCCTCCTCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG03139.hp1 HG02965.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0157 a0001c0002t0001g0161 a0001c0001t0001g0157 a0001c0002t0001g0161	2	396	0.0051	24	c.-56 others(33): Show c.-565_-564insCCTCCTCCTCCTCCTCCTCCTCCT	ISM1	ENSG00000101230.6	transcript	ENST00000262487.5	protein_coding		61		chr20	TogoVar
ISM1_chr20_13216274_13305651	13247517	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTCTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0350 a0001c0001t0001g0350	1	396	0.0025	24	c.139 others(43): Show c.139-22973_139-22972insCTGTGTGTGTGTGTGTGTGTGTGT	ISM1	ENSG00000101230.6	transcript	ENST00000262487.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
ISM1_chr20_13216274_13305651	13269934	A A	AGGATGGA others(17): Show AGGATGGATGGATGGATGGATGGAT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0047 a0001c0001t0005g0047	1	396	0.0025	24	c.139 others(39): Show c.139-561_139-538dupGGATGGATGGATGGATGGATGGAT	ISM1	ENSG00000101230.6	transcript	ENST00000262487.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
ITCH_chr20_34358273_34516773	34471777	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0243 a0001c0001t0012g0243	1	294	0.0034	24	c.156 others(41): Show c.1569+281_1569+282insGTGTGTGTGTGTGTGTGTGTGTGT	ITCH	ENSG00000078747.17	transcript	ENST00000374864.10	protein_coding	16/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
ITFG1_chr16_47149391_47466063	47315768	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02976.hp1 HG03195.hp2 HG01361.hp1 HG02976.hp1 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0002g0077 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0002g0077	3	110	0.0273	24	c.803 others(41): Show c.803-1946_803-1945insATATATATATATATATATATATAT	ITFG1	ENSG00000129636.13	transcript	ENST00000320640.11	protein_coding	8/17			chr16	TogoVar
ITFG1_chr16_47149391_47466063	47396522	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02630.hp1 HG02723.hp1 others(4): Show HG01109.hp2 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG03098.hp1 HG03471.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004	a0001c0002t0001g0096 a0001c0002t0002g0072 a0001c0002t0002g0073 others(4): Show a0001c0002t0001g0096 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0078 a0001c0002t0002g0081 a0001c0002t0004g0095	7	110	0.0636	24	c.656 others(43): Show c.656-20583_656-20582insCACACACACACACACACACACACA	ITFG1	ENSG00000129636.13	transcript	ENST00000320640.11	protein_coding	6/17			chr16	TogoVar
ITFG1_chr16_47149391_47466063	47409404	A A	ATATATAT others(17): Show ATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	110	0.0091	24	c.655 others(43): Show c.655+19399_655+19400insAAAAAAAATATATATATATATATA	ITFG1	ENSG00000129636.13	transcript	ENST00000320640.11	protein_coding	6/17			chr16	TogoVar
ITFG1_chr16_47149391_47466063	47409404	A A	ATATATAT others(17): Show ATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0083 a0001c0002t0002g0083	1	110	0.0091	24	c.655 others(43): Show c.655+19399_655+19400insAAAAAAAAAAAAAAAAAATATATA	ITFG1	ENSG00000129636.13	transcript	ENST00000320640.11	protein_coding	6/17			chr16	TogoVar
ITGA11_chr15_68291532_68437163	68302055	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0050 a0003c0004t0050	a0003c0004t0050g0060 a0003c0004t0050g0060	1	242	0.0041	24	c.98 others(34): Show c.980_*1003dupACACACACACACACACACACACAC	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	30/30	1003		chr15	TogoVar
ITGA11_chr15_68291532_68437163	68433478	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG02056.hp1 HG02809.hp2 others(5): Show HG00099.hp1 HG02056.hp1 HG02809.hp2 HG03453.hp1 HG03927.hp2 HG04184.hp2 NA19088.hp2 NA20752.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0016 a0003c0004 others(4): Show a0001c0001 a0002c0016 a0003c0004 a0003c0009 a0003c0040 a0004c0013 a0005c0071	a0001c0001t0003 a0001c0001t0004 a0002c0016t0001 others(5): Show a0001c0001t0003 a0001c0001t0004 a0002c0016t0001 a0003c0004t0088 a0003c0009t0014 a0003c0040t0079 a0004c0013t0016 a0005c0071t0100	a0001c0001t0003g0161 a0001c0001t0004g0204 a0002c0016t0001g0162 others(5): Show a0001c0001t0003g0161 a0001c0001t0004g0204 a0002c0016t0001g0162 a0003c0004t0088g0165 a0003c0009t0014g0218 a0003c0040t0079g0018 a0004c0013t0016g0184 a0005c0071t0100g0210	8	242	0.0331	24	c.-14 others(35): Show c.-1413_-1412insACACACACACACACACACACACAC	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding		1316		chr15	TogoVar
ITGA1_chr5_52782916_52964209	52962753	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18989.hp2 NA18612.hp1 NA18989.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0014 a0001c0003t0014 a0001c0002t0014 a0001c0003t0014	a0001c0002t0014g0137 a0001c0003t0014g0055 a0001c0002t0014g0137 a0001c0003t0014g0055	2	322	0.0062	24	c.10 others(37): Show c.10302_*10303insATATATATATATATATATATATAT	ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding		3545		chr5	TogoVar
ITGA1_chr5_52782916_52964209	52962755	C C	CACACATA others(17): Show CACACATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0149 a0003c0005t0003g0149	1	322	0.0031	24	c.10 others(37): Show c.10304_*10305insACACATATATATATATATATATAT	ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding		3547		chr5	TogoVar
ITGA1_chr5_52782916_52964209	52962755	C C	CACATATA others(17): Show CACATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA19090.hp2 NA18612.hp2 NA19090.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0008 a0003c0005t0003 a0003c0005t0008	a0003c0005t0003g0203 a0003c0005t0008g0263 a0003c0005t0003g0203 a0003c0005t0008g0263	2	322	0.0062	24	c.10 others(37): Show c.10304_*10305insACATATATATATATATATATATAT	ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding		3547		chr5	TogoVar
ITGA2B_chr17_44367181_44394649	44368103	A A	AATATATA others(17): Show AATATATATATATATAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	354	0.0028	24	c.42 others(35): Show c.4260_*4261insATATATATTTATATATATATATAT	ITGA2B	ENSG00000005961.19	transcript	ENST00000262407.6	protein_coding		4077		chr17	TogoVar
ITGA2B_chr17_44367181_44394649	44368119	A A	AATATATA others(17): Show AATATATATATATATATATATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	354	0.0028	24	c.42 others(35): Show c.4244_*4245insATTTATATATATATATATATATAT	ITGA2B	ENSG00000005961.19	transcript	ENST00000262407.6	protein_coding		4061		chr17	TogoVar
ITGA2B_chr17_44367181_44394649	44368146	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	354	0.0028	24	c.42 others(35): Show c.4217_*4218insAAAATATATATATATATATATATA	ITGA2B	ENSG00000005961.19	transcript	ENST00000262407.6	protein_coding		4034		chr17	TogoVar
ITGA2_chr5_52984352_53099779	53094196	A A	AATTTATA others(17): Show AATTTATAAACAACTTTGTAGGACT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00621.hp1 others(27): Show HG00323.hp2 HG00544.hp2 HG00621.hp1 HG01070.hp1 HG01192.hp1 HG01358.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01975.hp1 HG02055.hp2 HG02132.hp1 HG02280.hp1 HG02622.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02970.hp2 HG03139.hp2 HG03471.hp2 HG03831.hp1 NA18950.hp2 NA18989.hp2 NA18993.hp1 NA19030.hp1 NA19056.hp2 NA19082.hp2 NA19084.hp2 NA20129.hp2	a0002 a0013 a0002 a0013	a0002c0003 a0002c0007 a0013c0019 a0002c0003 a0002c0007 a0013c0019	a0002c0003t0007 a0002c0003t0040 a0002c0007t0010 others(1): Show a0002c0003t0007 a0002c0003t0040 a0002c0007t0010 a0013c0019t0030	a0002c0003t0007g0018 a0002c0003t0007g0019 a0002c0003t0007g0072 others(25): Show a0002c0003t0007g0018 a0002c0003t0007g0019 a0002c0003t0007g0072 a0002c0003t0007g0078 a0002c0003t0007g0079 a0002c0003t0007g0080 a0002c0003t0007g0283 a0002c0003t0007g0284 a0002c0003t0007g0285 a0002c0003t0007g0286 a0002c0003t0007g0333 a0002c0003t0007g0334 a0002c0003t0007g0337 a0002c0003t0007g0343 a0002c0003t0007g0346 a0002c0003t0007g0348 a0002c0003t0007g0349 a0002c0003t0007g0355 a0002c0003t0007g0356 a0002c0003t0007g0359 a0002c0003t0007g0360 a0002c0003t0040g0342 a0002c0007t0010g0165 a0002c0007t0010g0166 a0002c0007t0010g0167 a0002c0007t0010g0260 a0002c0007t0010g0261 a0013c0019t0030g0033	30	398	0.0754	24	c.35 others(35): Show c.3599_*3600insTTATAAACAACTTTGTAGGACTAT	ITGA2	ENSG00000164171.11	transcript	ENST00000296585.10	protein_coding	30/30	3600	INFO_REALIGN_3_PRIME	chr5	TogoVar
ITGA2_chr5_52984352_53099779	53094196	A A	AATTTATA others(17): Show AATTTATAAACAATTTTGTAGGACT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00673.hp1 NA18961.hp1 NA18995.hp2 HG00673.hp1 NA18961.hp1 NA18995.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0016 a0002c0009t0016	a0002c0009t0016g0216 a0002c0009t0016g0271 a0002c0009t0016g0272 a0002c0009t0016g0216 a0002c0009t0016g0271 a0002c0009t0016g0272	3	398	0.0075	24	c.35 others(35): Show c.3599_*3600insTTATAAACAATTTTGTAGGACTAT	ITGA2	ENSG00000164171.11	transcript	ENST00000296585.10	protein_coding	30/30	3600	INFO_REALIGN_3_PRIME	chr5	TogoVar
ITGA4_chr2_181452386_181543940	181526821	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	368	0.0027	24	c.234 others(41): Show c.2340-467_2340-444dupTTTTTTTTTTTTTTTTTTTTTTTT	ITGA4	ENSG00000115232.14	transcript	ENST00000397033.7	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGA6_chr2_172422586_172511459	172450877	T T	TTATATAT others(17): Show TTATATATTTATATACAAATATATA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0030 a0002c0005t0030	a0002c0005t0030g0308 a0002c0005t0030g0308	1	352	0.0028	24	c.183 others(43): Show c.183-14660_183-14637dupATATATTTATATACAAATATATAT	ITGA6	ENSG00000091409.16	transcript	ENST00000442250.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGA6_chr2_172422586_172511459	172450879	A A	ATATATTT others(17): Show ATATATTTATATACAAATATATATT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02723.hp1 HG02886.hp2 others(7): Show HG02615.hp1 HG02723.hp1 HG02886.hp2 HG02895.hp2 HG02970.hp2 HG03209.hp1 HG03471.hp2 HG03540.hp2 NA18522.hp1 NA18906.hp1	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0004 a0004c0008 a0005c0007 a0002c0004 a0004c0008 a0005c0007	a0002c0004t0007 a0004c0008t0002 a0005c0007t0009 a0002c0004t0007 a0004c0008t0002 a0005c0007t0009	a0002c0004t0007g0119 a0004c0008t0002g0253 a0005c0007t0009g0012 others(7): Show a0002c0004t0007g0119 a0004c0008t0002g0253 a0005c0007t0009g0012 a0005c0007t0009g0013 a0005c0007t0009g0250 a0005c0007t0009g0251 a0005c0007t0009g0252 a0005c0007t0009g0290 a0005c0007t0009g0309 a0005c0007t0009g0335	10	352	0.0284	24	c.183 others(43): Show c.183-14653_183-14630dupTATATACAAATATATATTTATATT	ITGA6	ENSG00000091409.16	transcript	ENST00000442250.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGA6_chr2_172422586_172511459	172506810	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03834.hp1 HG03239.hp2 HG03834.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0077 a0002c0005t0003g0102 a0002c0005t0003g0077 a0002c0005t0003g0102	2	352	0.0057	24	c.25 others(35): Show c.2558_*2559insACACACACACACACACACACACAC	ITGA6	ENSG00000091409.16	transcript	ENST00000442250.6	protein_coding		352		chr2	TogoVar
ITGA6_chr2_172422586_172511459	172506840	C C	CACACACA others(17): Show CACACACACACACACACACACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG03942.hp1 NA18982.hp1 others(1): Show HG01928.hp2 HG03942.hp1 NA18982.hp1 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0149 a0001c0002t0002g0203 a0001c0002t0002g0247 others(1): Show a0001c0002t0002g0149 a0001c0002t0002g0203 a0001c0002t0002g0247 a0001c0002t0004g0002	4	352	0.0114	24	c.25 others(35): Show c.2588_*2589insACACACACACACACACACACACAT	ITGA6	ENSG00000091409.16	transcript	ENST00000442250.6	protein_coding		382		chr2	TogoVar
ITGA6_chr2_172422586_172511459	172506840	C C	CACACACA others(17): Show CACACACACACACACACACACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0319 a0001c0002t0002g0319	1	352	0.0028	24	c.25 others(35): Show c.2588_*2589insACACACACACACACACACACATAT	ITGA6	ENSG00000091409.16	transcript	ENST00000442250.6	protein_coding		382		chr2	TogoVar
ITGA6_chr2_172422586_172511459	172506840	C C	CACACACA others(17): Show CACACACACACACACACACATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 NA18994.hp2 HG00558.hp1 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0028 a0001c0002t0002 a0001c0002t0028	a0001c0002t0002g0322 a0001c0002t0028g0212 a0001c0002t0002g0322 a0001c0002t0028g0212	2	352	0.0057	24	c.25 others(35): Show c.2588_*2589insACACACACACACACACACATATAT	ITGA6	ENSG00000091409.16	transcript	ENST00000442250.6	protein_coding		382		chr2	TogoVar
ITGA8_chr10_15508954_15724922	15694678	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18940.hp2 NA18998.hp1 HG02922.hp2 NA18940.hp2 NA18998.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0007 a0001c0001t0002 a0003c0003t0007	a0001c0001t0002g0105 a0003c0003t0007g0011 a0003c0003t0007g0015 a0001c0001t0002g0105 a0003c0003t0007g0011 a0003c0003t0007g0015	3	220	0.0136	24	c.344 others(41): Show c.344-6664_344-6641dupATATATATATATATATATATATAT	ITGA8	ENSG00000077943.8	transcript	ENST00000378076.4	protein_coding	2/29			chr10	TogoVar
ITGA9_chr3_37447141_37828507	37493586	G G	GTCTACAG others(17): Show GTCTACAGAAGTGAAGGAATGGGTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02895.hp1 HG02897.hp1 HG02717.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0013 a0001c0030 a0001c0013 a0001c0030	a0001c0013t0009 a0001c0030t0016 a0001c0013t0009 a0001c0030t0016	a0001c0013t0009g0159 a0001c0013t0009g0160 a0001c0030t0016g0002 a0001c0013t0009g0159 a0001c0013t0009g0160 a0001c0030t0016g0002	3	168	0.0179	24	c.545 others(39): Show c.545-910_545-887dupCAGAAGTGAAGGAATGGGTTTCTA	ITGA9	ENSG00000144668.12	transcript	ENST00000264741.10	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITGA9_chr3_37447141_37828507	37518093	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG03041.hp1 HG03225.hp2 HG01168.hp1 HG03041.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0025 a0001c0001 a0001c0005 a0001c0025	a0001c0001t0003 a0001c0005t0017 a0001c0025t0007 a0001c0001t0003 a0001c0005t0017 a0001c0025t0007	a0001c0001t0003g0054 a0001c0005t0017g0143 a0001c0025t0007g0064 a0001c0001t0003g0054 a0001c0005t0017g0143 a0001c0025t0007g0064	3	168	0.0179	24	c.114 others(41): Show c.1141+489_1141+512dupGTGTGTGTGTGTGTGTGTGTGTGT	ITGA9	ENSG00000144668.12	transcript	ENST00000264741.10	protein_coding	10/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITGAE_chr17_3709628_3806188	3711370	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 NA18951.hp2 HG01433.hp2 NA18951.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0007 a0002c0002 a0007c0007	a0002c0002t0001 a0007c0007t0001 a0002c0002t0001 a0007c0007t0001	a0002c0002t0001g0286 a0007c0007t0001g0212 a0002c0002t0001g0286 a0007c0007t0001g0212	2	302	0.0066	24	c.34 others(35): Show c.3476_*3477insAAAAAAAAAAAAAAAAAAAAAAAA	ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding		3257		chr17	TogoVar
ITGAE_chr17_3709628_3806188	3796170	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00673.hp1 HG01109.hp2 others(6): Show HG00280.hp2 HG00673.hp1 HG01109.hp2 HG01175.hp2 HG01361.hp1 HG02148.hp1 HG02559.hp1 HG03490.hp1 HG03492.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0015 a0024	a0001c0001 a0002c0002 a0004c0004 others(3): Show a0001c0001 a0002c0002 a0004c0004 a0005c0005 a0015c0026 a0024c0036	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0005c0005t0001 a0015c0026t0001 a0024c0036t0001	a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0277 others(6): Show a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0277 a0002c0002t0001g0205 a0002c0002t0001g0215 a0004c0004t0001g0239 a0005c0005t0001g0056 a0015c0026t0001g0296 a0024c0036t0001g0078	9	302	0.0298	24	c.34+ others(39): Show c.34+4940_34+4941insACACACACACACACACACACACAC	ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding	1/30			chr17	TogoVar
ITGAM_chr16_31254975_31337877	31270126	C C	CTCCTTTG others(17): Show CTCCTTTGCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02486.hp1 HG02922.hp1 HG01891.hp1 HG02486.hp1 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0003 a0001c0007 a0002c0003	a0001c0007t0004 a0002c0003t0003 a0001c0007t0004 a0002c0003t0003	a0001c0007t0004g0109 a0002c0003t0003g0126 a0002c0003t0003g0127 a0001c0007t0004g0109 a0002c0003t0003g0126 a0002c0003t0003g0127	3	244	0.0123	24	c.428 others(39): Show c.428-827_428-826insCCTTTGCTTTCCTTTCCTTTCCTT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAM_chr16_31254975_31337877	31270130	C C	CTTCCTCC others(17): Show CTTCCTCCTTTGCTTTCCTTTCCTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0150 a0001c0005t0004g0150	1	244	0.0041	24	c.428 others(39): Show c.428-823_428-822insTCCTCCTTTGCTTTCCTTTCCTTT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAV_chr2_186585056_186685901	186668216	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	308	0.0033	24	c.243 others(41): Show c.2433+441_2433+442insATATATATATATATATATATATTT	ITGAV	ENSG00000138448.13	transcript	ENST00000261023.8	protein_coding	24/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGAV_chr2_186585056_186685901	186668216	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03492.hp1 HG01934.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0267 a0001c0001t0001g0187 a0001c0001t0001g0267	2	308	0.0065	24	c.243 others(41): Show c.2433+441_2433+442insATATATATATATATATATATTTTT	ITGAV	ENSG00000138448.13	transcript	ENST00000261023.8	protein_coding	24/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGAV_chr2_186585056_186685901	186668216	A A	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02074.hp1 HG02015.hp2 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0263 a0001c0001t0001g0189 a0001c0001t0001g0263	2	308	0.0065	24	c.243 others(41): Show c.2433+441_2433+442insATATATATATATATATATTTTTTT	ITGAV	ENSG00000138448.13	transcript	ENST00000261023.8	protein_coding	24/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGAV_chr2_186585056_186685901	186668216	A A	ATATATAT others(17): Show ATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA19002.hp2 NA18747.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0215 a0001c0001t0001g0147 a0001c0001t0001g0215	2	308	0.0065	24	c.243 others(41): Show c.2433+441_2433+442insATATATATATATATATTTTTTTTT	ITGAV	ENSG00000138448.13	transcript	ENST00000261023.8	protein_coding	24/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGB1_chr10_32895318_32963230	32947432	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02027.hp2 HG03669.hp1 others(2): Show HG01099.hp2 HG02027.hp2 HG03669.hp1 NA18975.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0004t0001	a0001c0001t0001g0178 a0001c0001t0004g0038 a0001c0002t0002g0176 others(2): Show a0001c0001t0001g0178 a0001c0001t0004g0038 a0001c0002t0002g0176 a0001c0004t0001g0177 a0001c0004t0001g0179	5	424	0.0118	24	c.-1+ others(41): Show c.-1+10689_-1+10712dupACACACACACACACACACACACAC	ITGB1	ENSG00000150093.20	transcript	ENST00000302278.8	protein_coding	1/15			chr10	TogoVar
ITGB3_chr17_47248827_47318743	47253807	C C	CGCGGGCG others(17): Show CGCGGGCGGCGGCGCCCACTGTGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG06807.hp1 HG03195.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0327 a0001c0002t0002g0325 a0001c0001t0002g0327 a0001c0002t0002g0325	2	370	0.0054	24	c.-55 others(31): Show c.-55_-54insGCGGGCGGCGGCGCCCACTGTGGG	ITGB3	ENSG00000259207.10	transcript	ENST00000559488.7	protein_coding		19		chr17	TogoVar
ITGB3_chr17_47248827_47318743	47272680	T T	TCTTTTTT others(17): Show TCTTTTTTTTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0228 a0001c0002t0009g0228	1	370	0.0027	24	c.80- others(39): Show c.80-1739_80-1738insCTTTTTTTTTCTTTCTTTCTTTCC	ITGB3	ENSG00000259207.10	transcript	ENST00000559488.7	protein_coding	1/14			chr17	TogoVar
ITGB3_chr17_47248827_47318743	47290448	A A	AGAAGGAA others(17): Show AGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02970.hp1 HG01256.hp2 HG02970.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0008 a0002c0004t0002 a0002c0004t0008	a0002c0004t0002g0039 a0002c0004t0008g0288 a0002c0004t0002g0039 a0002c0004t0008g0288	2	370	0.0054	24	c.112 others(41): Show c.1125+175_1125+198dupGAAGGAAGGAAGGAAGGAAGGAAG	ITGB3	ENSG00000259207.10	transcript	ENST00000559488.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
ITGB3_chr17_47248827_47318743	47308160	A A	AAATAATA others(17): Show AAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02647.hp2 HG02723.hp2 others(1): Show HG01109.hp1 HG02647.hp2 HG02723.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0016 a0001c0001t0001g0124 a0001c0002t0001g0326 a0001c0001t0001g0016 a0001c0001t0001g0124 a0001c0002t0001g0326	4	370	0.0108	24	c.230 others(41): Show c.2301+529_2301+552dupTAATAATAATAATAATAATAATAA	ITGB3	ENSG00000259207.10	transcript	ENST00000559488.7	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
ITGB5_chr3_124756948_124892365	124810908	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0008 a0004c0005t0008	a0004c0005t0008g0303 a0004c0005t0008g0303	1	352	0.0028	24	c.112 others(43): Show c.1129-1776_1129-1753dupGAAAGAAAGAAAGAAAGAAAGAAA	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	8/14			chr3	TogoVar
ITGBL1_chr13_101447675_101721446	101604885	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01516.hp2 NA18969.hp1 NA18979.hp2 HG01516.hp2 NA18969.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0153 a0001c0003t0001g0090 a0001c0003t0001g0300 a0001c0001t0001g0153 a0001c0003t0001g0090 a0001c0003t0001g0300	3	306	0.0098	24	c.101 others(43): Show c.1015+6587_1015+6588insCACACACACACACACACACACACA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101604887	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01099.hp2 HG03704.hp1 others(6): Show HG00741.hp2 HG01099.hp2 HG03704.hp1 HG03942.hp1 NA18944.hp2 NA18989.hp1 NA18992.hp2 NA19068.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0020	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0001c0020t0001	a0001c0001t0001g0050 a0001c0001t0001g0066 a0001c0001t0001g0085 others(6): Show a0001c0001t0001g0050 a0001c0001t0001g0066 a0001c0001t0001g0085 a0001c0002t0001g0255 a0001c0003t0001g0149 a0001c0003t0001g0180 a0001c0006t0001g0258 a0001c0006t0001g0269 a0001c0020t0001g0167	9	306	0.0294	24	c.101 others(43): Show c.1015+6603_1015+6604insCACACACACACACACACACACACA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101604887	T T	TATACACA others(17): Show TATACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18964.hp2 NA19065.hp1 NA18954.hp1 NA18964.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0187 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0187	3	306	0.0098	24	c.101 others(43): Show c.1015+6589_1015+6590insTACACACACACACACACACACACA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101604887	T T	TATATATA others(17): Show TATATATATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0037 a0001c0005t0002g0037	1	306	0.0033	24	c.101 others(43): Show c.1015+6589_1015+6590insTATATATACACACACACACACACA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101604887	T T	TATATATG others(17): Show TATATATGTATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01517.hp1 HG02083.hp2 others(7): Show HG01433.hp2 HG01517.hp1 HG02083.hp2 HG03490.hp1 HG03492.hp1 HG03710.hp1 HG04204.hp1 NA18986.hp1 NA18987.hp2 NA19001.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0007c0017	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0007c0017t0001	a0001c0001t0001g0073 a0001c0001t0001g0103 a0001c0001t0001g0110 others(7): Show a0001c0001t0001g0073 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0150 a0001c0002t0001g0236 a0001c0003t0001g0024 a0001c0003t0001g0025 a0007c0017t0001g0088	10	306	0.0327	24	c.101 others(43): Show c.1015+6589_1015+6590insTATATGTATATATATATATACACA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101689211	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp1 HG01175.hp2 others(6): Show HG00735.hp2 HG00741.hp1 HG01175.hp2 HG02027.hp2 HG02717.hp1 HG03209.hp1 HG03831.hp1 NA18975.hp2 NA18979.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0011 a0004c0013	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0011t0001 a0004c0013t0001	a0001c0001t0001g0072 a0001c0001t0001g0117 a0001c0001t0001g0127 others(6): Show a0001c0001t0001g0072 a0001c0001t0001g0117 a0001c0001t0001g0127 a0001c0002t0001g0272 a0001c0003t0001g0020 a0001c0005t0001g0138 a0001c0005t0001g0191 a0001c0011t0001g0032 a0004c0013t0001g0043	9	306	0.0294	24	c.101 others(43): Show c.1016-3352_1016-3351insAAAAAAAAAAAAAAAAAAAAAAAA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITIH2_chr10_7698316_7754520	7737678	T T	TTTCTATA others(17): Show TTTCTATATTATATTCTATATAATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0196 a0004c0005t0001g0196	1	380	0.0026	24	c.195 others(41): Show c.1958-801_1958-778dupATATTCTATATTATATTCTATATA	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737678	T T	TTTCTATA others(17): Show TTTCTATATTATATTCTATATTATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01433.hp2 HG02602.hp1 others(2): Show HG01167.hp2 HG01433.hp2 HG02602.hp1 HG03704.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0177 a0001c0001t0001g0212 others(2): Show a0001c0001t0001g0105 a0001c0001t0001g0177 a0001c0001t0001g0212 a0001c0001t0001g0237 a0001c0001t0001g0242	5	380	0.0132	24	c.195 others(41): Show c.1958-923_1958-922insTATATTCTATATTATATTCTATAT	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar

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