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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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
ITGA3_chr17_50051110_50095481	50083896	T T	TCATAGCA others(29): Show TCATAGCAACAAGATTTTTCTTGCCTATCAGATTGGG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	402	0.0025	36	c.291 others(55): Show c.2919+2489_2919+2524dupCATAGCAACAAGATTTTTCTTGCCTA TCAGATTGGG	ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25		INFO_REALIGN_3_PRIME	chr17	TogoVar
ITGA8_chr10_15508954_15724922	15694354	T T	TATATCAG others(29): Show TATATCAGATAATATATCATATATGATAATATATCAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(127): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18962.hp2 NA18966.hp1 NA18968.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp2 NA18988.hp1 NA18998.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19009.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19064.hp2 NA19087.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(9): Show a0001 a0002 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0013 a0017 a0018	a0001c0001 a0001c0007 a0001c0014 others(12): Show a0001c0001 a0001c0007 a0001c0014 a0001c0020 a0002c0002 a0004c0025 a0005c0005 a0006c0010 a0007c0009 a0009c0016 a0010c0015 a0011c0019 a0013c0022 a0017c0026 a0018c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0034 a0001c0001t0035 a0001c0007t0002 a0001c0007t0003 a0001c0014t0003 a0001c0020t0030 a0002c0002t0005 a0002c0002t0031 a0004c0025t0002 a0005c0005t0004 a0006c0010t0008 a0007c0009t0002 a0009c0016t0005 a0010c0015t0005 a0011c0019t0001 a0013c0022t0005 a0017c0026t0009 a0018c0018t0001	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(127): Show a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0092 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0209 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0105 a0001c0001t0002g0109 a0001c0001t0002g0137 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0161 a0001c0001t0002g0170 a0001c0001t0002g0176 a0001c0001t0002g0181 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0003g0101 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0114 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0133 a0001c0001t0003g0139 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0147 a0001c0001t0003g0167 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0187 a0001c0001t0003g0198 a0001c0001t0003g0200 a0001c0001t0003g0210 a0001c0001t0004g0112 a0001c0001t0004g0142 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0166 a0001c0001t0004g0169 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0186 a0001c0001t0004g0195 a0001c0001t0004g0206 a0001c0001t0008g0174 a0001c0001t0008g0202 a0001c0001t0009g0197 a0001c0001t0011g0119 a0001c0001t0011g0130 a0001c0001t0011g0211 a0001c0001t0016g0093 a0001c0001t0016g0205 a0001c0001t0016g0207 a0001c0001t0020g0120 a0001c0001t0020g0208 a0001c0001t0021g0146 a0001c0001t0021g0203 a0001c0001t0034g0160 a0001c0001t0035g0162 a0001c0007t0002g0138 a0001c0007t0002g0157 a0001c0007t0003g0128 a0001c0014t0003g0158 a0001c0014t0003g0159 a0001c0020t0030g0094 a0002c0002t0005g0067 a0002c0002t0005g0118 a0002c0002t0005g0124 a0002c0002t0005g0126 a0002c0002t0005g0136 a0002c0002t0005g0140 a0002c0002t0005g0192 a0002c0002t0005g0194 a0002c0002t0005g0196 a0002c0002t0031g0193 a0004c0025t0002g0106 a0005c0005t0004g0135 a0005c0005t0004g0149 a0005c0005t0004g0165 a0005c0005t0004g0168 a0006c0010t0008g0097 a0006c0010t0008g0098 a0006c0010t0008g0099 a0007c0009t0002g0100 a0007c0009t0002g0131 a0007c0009t0002g0191 a0009c0016t0005g0155 a0009c0016t0005g0156 a0010c0015t0005g0199 a0010c0015t0005g0201 a0011c0019t0001g0055 a0013c0022t0005g0129 a0017c0026t0009g0088 a0018c0018t0001g0054	130	220	0.5909	36	c.344 others(53): Show c.344-6352_344-6317dupGTGATATATTATCATATATGATATATTA TCTGATAT	ITGA8	ENSG00000077943.8	transcript	ENST00000378076.4	protein_coding	2/29			chr10	TogoVar
ITGA9_chr3_37447141_37828507	37512209	C C	CTTTTCTT others(29): Show CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0166 a0002c0002t0002g0166	1	168	0.0060	36	c.898 others(53): Show c.898-1551_898-1550insTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTT	ITGA9	ENSG00000144668.12	transcript	ENST00000264741.10	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITGAL_chr16_30467742_30528185	30499675	G G	GTGTATAT others(29): Show GTGTATATATATGTATATATATGTGTATATATATATA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	318	0.0031	36	c.214 others(53): Show c.2145+198_2145+233dupGTATATATATGTGTATATATATATATGT ATATATAT	ITGAL	ENSG00000005844.19	transcript	ENST00000356798.11	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAL_chr16_30467742_30528185	30499713	G G	GTATATAT others(29): Show GTATATATATATGTGTATATATATATACGTATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00642.hp2 HG01069.hp2 others(9): Show HG00408.hp2 HG00642.hp2 HG01069.hp2 HG03654.hp1 HG03710.hp1 HG04184.hp1 HG06807.hp2 NA18980.hp2 NA18990.hp1 NA19001.hp1 NA19060.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0005t0004 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0005t0004 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0013 a0001c0001t0001g0031 a0001c0001t0001g0064 others(9): Show a0001c0001t0001g0013 a0001c0001t0001g0031 a0001c0001t0001g0064 a0001c0005t0004g0299 a0002c0002t0001g0003 a0002c0002t0001g0025 a0002c0002t0001g0038 a0002c0002t0001g0119 a0002c0002t0001g0142 a0002c0002t0001g0184 a0002c0002t0001g0196 a0002c0002t0002g0301	12	318	0.0377	36	c.214 others(53): Show c.2145+235_2145+236insGTGTATATATATATACGTATATATATAT ATATATAT	ITGAL	ENSG00000005844.19	transcript	ENST00000356798.11	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAM_chr16_31254975_31337877	31302918	C C	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0045 a0001c0002t0002g0045	1	244	0.0041	36	c.170 others(55): Show c.1707+5010_1707+5045dupCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	14/29		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGB1_chr10_32895318_32963230	32947432	C C	CGTGTGTG others(29): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0165 a0001c0004t0001g0165	1	424	0.0024	36	c.-1+ others(53): Show c.-1+10677_-1+10712dupACACACACACACACACACACACACACAC ACACACAC	ITGB1	ENSG00000150093.20	transcript	ENST00000302278.8	protein_coding	1/15			chr10	TogoVar
ITGB3BP_chr1_63435770_63528225	63472443	T T	TCCCTCTC others(29): Show TCCCTCTCCCTCTCCCTCTCCTCCCCTCTCCCCTCTC	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0329	1	374	0.0027	36	c.254 others(53): Show c.254+6320_254+6321insGAGAGGGGAGAGGGGAGGAGAGGGAGAG GGAGAGGG	ITGB3BP	ENSG00000142856.17	transcript	ENST00000271002.15	protein_coding	4/8			chr1	TogoVar
ITGB3_chr17_47248827_47318743	47272679	T T	TTCTTTTT others(29): Show TTCTTTTTTTTTCTTTCTTTCTTTCCTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03041.hp1 HG02922.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0023 a0001c0002t0009g0023	2	370	0.0054	36	c.80- others(51): Show c.80-1739_80-1738insCTTTTTTTTTCTTTCTTTCTTTCCTTCTTT CTTTCT	ITGB3	ENSG00000259207.10	transcript	ENST00000559488.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
ITGB5_chr3_124756948_124892365	124810908	T T	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03540.hp1 HG02896.hp1 HG02897.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0246 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0246	3	352	0.0085	36	c.112 others(55): Show c.1129-1753_1129-1752insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAA	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	8/14			chr3	TogoVar
ITGBL1_chr13_101447675_101721446	101604887	T T	TATATATA others(29): Show TATATATATATATATATATGTATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0097 a0001c0003t0001g0097	1	306	0.0033	36	c.101 others(55): Show c.1015+6589_1015+6590insTATATATATATATATATGTATATATA TATATACACA	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(29): Show TATATATATATATATGTATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0237 a0001c0002t0001g0237	1	306	0.0033	36	c.101 others(55): Show c.1015+6589_1015+6590insTATATATATATATGTATATATATATA TACACACACA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101605431	C C	CATATGTA others(29): Show CATATGTATATCCGTATATATACACATATATAGACAT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0061 a0002c0007t0001g0061	1	306	0.0033	36	c.101 others(55): Show c.1015+7134_1015+7135insATGTATATCCGTATATATACACATAT ATAGACATAT	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101605431	C C	CATATGTA others(29): Show CATATGTATATGCGTATATATACACATATATAGACAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG00621.hp1 others(94): Show HG00423.hp1 HG00597.hp2 HG00621.hp1 HG01074.hp1 HG01109.hp2 HG01175.hp2 HG01243.hp2 HG01261.hp1 HG01358.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18948.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp2 NA18975.hp1 NA18977.hp1 NA18987.hp1 NA18993.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19083.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0002c0004 a0002c0007 a0002c0008 a0002c0012 a0002c0021 a0003c0010 a0004c0013 a0004c0018 a0005c0014 a0006c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0002c0004t0001 a0002c0004t0002 a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 a0002c0012t0001 a0002c0021t0002 a0003c0010t0001 a0004c0013t0001 a0004c0018t0001 a0005c0014t0001 a0006c0022t0001	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0016 others(93): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0034 a0001c0001t0001g0057 a0001c0001t0001g0114 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0182 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0002g0031 a0001c0001t0002g0077 a0001c0001t0002g0084 a0001c0001t0002g0091 a0001c0001t0002g0134 a0001c0001t0002g0280 a0001c0001t0003g0054 a0001c0001t0005g0086 a0001c0001t0006g0087 a0001c0002t0001g0227 a0001c0002t0001g0235 a0001c0002t0001g0237 a0001c0002t0001g0251 a0001c0002t0001g0253 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0003t0001g0020 a0001c0003t0001g0062 a0001c0003t0001g0123 a0001c0003t0001g0124 a0001c0005t0001g0053 a0001c0005t0001g0186 a0001c0005t0002g0299 a0001c0006t0001g0259 a0002c0004t0001g0005 a0002c0004t0001g0012 a0002c0004t0001g0017 a0002c0004t0001g0018 a0002c0004t0001g0019 a0002c0004t0001g0028 a0002c0004t0001g0058 a0002c0004t0001g0059 a0002c0004t0001g0060 a0002c0004t0001g0106 a0002c0004t0001g0209 a0002c0004t0001g0283 a0002c0004t0001g0284 a0002c0004t0001g0285 a0002c0004t0001g0287 a0002c0004t0001g0288 a0002c0004t0001g0289 a0002c0004t0001g0290 a0002c0004t0001g0292 a0002c0004t0001g0304 a0002c0004t0002g0013 a0002c0004t0002g0030 a0002c0007t0001g0001 a0002c0007t0001g0052 a0002c0007t0001g0065 a0002c0007t0001g0069 a0002c0007t0001g0075 a0002c0007t0001g0144 a0002c0007t0001g0291 a0002c0007t0004g0071 a0002c0008t0001g0245 a0002c0008t0001g0248 a0002c0008t0001g0252 a0002c0008t0001g0254 a0002c0012t0001g0218 a0002c0012t0001g0244 a0002c0012t0001g0249 a0002c0021t0002g0293 a0003c0010t0001g0082 a0003c0010t0001g0133 a0003c0010t0001g0135 a0003c0010t0001g0142 a0004c0013t0001g0043 a0004c0013t0001g0047 a0004c0013t0001g0048 a0004c0018t0001g0046 a0005c0014t0001g0045 a0005c0014t0001g0076 a0006c0022t0001g0194	97	306	0.3170	36	c.101 others(55): Show c.1015+7134_1015+7135insATGTATATGCGTATATATACACATAT ATAGACATAT	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITIH2_chr10_7698316_7754520	7737678	T T	TATATTCT others(29): Show TATATTCTATATTATATTCTATATATTCTATATAATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00673.hp2 others(8): Show HG00099.hp1 HG00280.hp2 HG00673.hp2 HG01261.hp2 HG01346.hp1 HG01981.hp2 HG02273.hp2 NA18947.hp2 NA19011.hp2 NA20129.hp2 NA20300.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0011c0018 a0001c0001 a0001c0002 a0011c0018	a0001c0001t0001 a0001c0002t0001 a0011c0018t0001 a0001c0001t0001 a0001c0002t0001 a0011c0018t0001	a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0071 others(8): Show a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0129 a0001c0001t0001g0194 a0001c0002t0001g0159 a0011c0018t0001g0075	11	380	0.0290	36	c.195 others(53): Show c.1958-943_1958-942insATATTCTATATTATATTCTATATATTCT ATATAATA	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20			chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737678	T T	TTTCTATA others(29): Show TTTCTATATTATATTCTATATTATATTCTATATTATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG03540.hp2 HG04199.hp1 others(3): Show HG00609.hp2 HG03540.hp2 HG04199.hp1 NA18975.hp2 NA18979.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0203 a0001c0001t0001g0214 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0203 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0232 a0001c0001t0001g0238	6	380	0.0158	36	c.195 others(53): Show c.1958-923_1958-922insTATATTCTATATTATATTCTATATTATA TTCTATAT	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCCATAT others(29): Show CTCCATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0188 a0002c0001t0002g0188	1	312	0.0032	36	c.-98 others(53): Show c.-98+5501_-98+5502insCCATATATATATATATATATATATATAT ATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCCATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02027.hp1 HG04204.hp1 HG01175.hp1 HG02027.hp1 HG04204.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0005 a0003c0007 a0002c0001 a0003c0005 a0003c0007	a0002c0001t0002 a0003c0005t0003 a0003c0007t0003 a0002c0001t0002 a0003c0005t0003 a0003c0007t0003	a0002c0001t0002g0214 a0003c0005t0003g0216 a0003c0007t0003g0215 a0002c0001t0002g0214 a0003c0005t0003g0216 a0003c0007t0003g0215	3	312	0.0096	36	c.-98 others(53): Show c.-98+5501_-98+5502insCTCTCTCTCTCCATATATATATATATAT ATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0120 a0001c0002t0002g0120	1	312	0.0032	36	c.-98 others(53): Show c.-98+5501_-98+5502insCTCTCTCTCTCTATATATATATATATAT ATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITSN2_chr2_24197864_24365536	24337315	A A	AATATATA others(29): Show AATATATATATATATACATATATATATATATACATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0037 a0002c0007t0001g0037	1	224	0.0045	36	c.-33 others(53): Show c.-33-9201_-33-9200insATATGTATATATATATATATGTATATAT ATATATAT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	1/39			chr2	TogoVar
ITSN2_chr2_24197864_24365536	24337315	A A	AATATATA others(29): Show AATATATATATATATACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0035 a0003c0002t0001g0035	1	224	0.0045	36	c.-33 others(53): Show c.-33-9201_-33-9200insATATATATATATATATATATGTATATAT ATATATAT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	1/39			chr2	TogoVar
JADE3_chrX_46907421_47066242	46999436	T T	TATATATA others(29): Show TATATATATATATATAACATATATATACATATATAAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(68): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00639.hp1 HG01071.hp2 HG01074.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01258.hp1 HG01261.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02083.hp1 HG02273.hp2 HG02300.hp1 HG02486.hp1 HG02647.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02970.hp2 HG03139.hp1 HG03490.hp1 HG03516.hp2 HG03669.hp1 HG03927.hp1 NA18747.hp1 NA18944.hp1 NA18948.hp1 NA18950.hp2 NA18953.hp1 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18983.hp1 NA18985.hp1 NA18992.hp2 NA18994.hp1 NA19007.hp1 NA19012.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19072.hp1 NA19082.hp1 NA19085.hp1 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0020 a0001c0001t0024 a0001c0001t0030 a0003c0003t0001	a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0078 others(68): Show a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0093 a0001c0001t0001g0198 a0001c0001t0001g0238 a0001c0001t0001g0247 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0076 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0129 a0001c0001t0002g0136 a0001c0001t0002g0199 a0001c0001t0002g0204 a0001c0001t0002g0209 a0001c0001t0002g0232 a0001c0001t0003g0053 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0005g0001 a0001c0001t0005g0084 a0001c0001t0005g0088 a0001c0001t0005g0107 a0001c0001t0005g0116 a0001c0001t0005g0130 a0001c0001t0005g0217 a0001c0001t0005g0224 a0001c0001t0005g0254 a0001c0001t0006g0037 a0001c0001t0007g0112 a0001c0001t0007g0119 a0001c0001t0007g0120 a0001c0001t0007g0206 a0001c0001t0007g0249 a0001c0001t0010g0123 a0001c0001t0010g0208 a0001c0001t0011g0087 a0001c0001t0011g0110 a0001c0001t0013g0021 a0001c0001t0013g0205 a0001c0001t0017g0175 a0001c0001t0020g0111 a0001c0001t0024g0215 a0001c0001t0030g0101 a0003c0003t0001g0197	71	258	0.2752	36	c.284 others(53): Show c.284+1173_284+1208dupTAACATATATATACATATATAACATATA TATATATA	JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding	4/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
JAGN1_chr3_9885610_9899349	9896947	C C	CTTTTTTA others(29): Show CTTTTTTATGTTTTTTTTTATTTTTATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	400	0.0025	36	c.35 others(47): Show c.3570_*3571insTTTTTTATGTTTTTTTTTATTTTTATTTTTTTTT TT	JAGN1	ENSG00000171135.15	transcript	ENST00000647897.1	protein_coding		2599		chr3	TogoVar
JAK1_chr1_64828229_64971549	64913633	G G	GAGGGAGG others(29): Show GAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	326	0.0031	36	c.-77 others(55): Show c.-77-27293_-77-27292insTCCTTCCTTCCTTCCTTCCTCCCTCC CTCCCTCCCT	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK2_chr9_4980272_5134948	5062500	T T	TAAAAAAA others(29): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0051 a0001c0003t0051	a0001c0003t0051g0206 a0001c0003t0051g0206	1	364	0.0028	36	c.105 others(55): Show c.1057-2352_1057-2351insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
JAKMIP2_chr5_147580438_147787728	147742139	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0058 a0001c0002t0058	a0001c0002t0058g0090 a0001c0002t0058g0090	1	250	0.0040	36	c.-14 others(57): Show c.-149+40316_-149+40317insTATATATATATATATATATATATA TATATATATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0089	1	250	0.0040	36	c.-14 others(57): Show c.-149+40300_-149+40301insAATATATATATATATATATATATA TATATATATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA19004.hp1 NA18972.hp2 NA19004.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0025 a0001c0003t0072 a0001c0003t0025 a0001c0003t0072	a0001c0003t0025g0183 a0001c0003t0072g0184 a0001c0003t0025g0183 a0001c0003t0072g0184	2	250	0.0080	36	c.-14 others(57): Show c.-149+40300_-149+40301insAAAATATATATATATATATATATA TATATATATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132071900	T T	TCTTTCCT others(29): Show TCTTTCCTTTCTTTCTTCCCTTCCTTCCCTTCCTTTC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03130.hp2 NA18522.hp2 others(2): Show HG02922.hp2 HG03130.hp2 NA18522.hp2 NA19043.hp1 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0013 a0001c0017 a0002c0010 others(1): Show a0001c0013 a0001c0017 a0002c0010 a0004c0011	a0001c0013t0024 a0001c0017t0005 a0002c0010t0002 others(1): Show a0001c0013t0024 a0001c0017t0005 a0002c0010t0002 a0004c0011t0040	a0001c0013t0024g0078 a0001c0017t0005g0079 a0002c0010t0002g0157 others(2): Show a0001c0013t0024g0078 a0001c0017t0005g0079 a0002c0010t0002g0157 a0002c0010t0002g0158 a0004c0011t0040g0060	5	158	0.0317	36	c.-13 others(55): Show c.-138+5842_-138+5843insTCCTTTCTTTCTTCCCTTCCTTCCCT TCCTTTCCTT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132139471	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGAGAGTATGTGAGTGTGTATGTGTGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0142 a0001c0001t0008g0142	1	158	0.0063	36	c.134 others(53): Show c.1345-975_1345-974insTGTGTGAGAGTATGTGAGTGTGTATGTG TGAGTGTG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132149726	A A	ACCCCCAC others(29): Show ACCCCCACCCTCACCCCTGCCCCACCTCACCCCTGCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0100 a0001c0001t0008g0100	1	158	0.0063	36	c.194 others(53): Show c.1947+218_1947+219insCCCACCCTCACCCCTGCCCCACCTCACC CCTGCCCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	15/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03492.hp1 HG02132.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0126 a0001c0001t0002g0277 a0001c0001t0001g0126 a0001c0001t0002g0277	2	328	0.0061	36	c.67+ others(53): Show c.67+20895_67+20896insATATATATATATATATATATATATATTT TTTTTTTT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(29): Show ATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	328	0.0031	36	c.67+ others(53): Show c.67+20895_67+20896insATATATATATATATATATATATTTTTTT TTTTTTTT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(29): Show ATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0295 a0001c0001t0004g0295	1	328	0.0031	36	c.67+ others(53): Show c.67+20895_67+20896insATATATATATATATATATATTTTTTTTT TTTTTTTT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(29): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18968.hp2 NA21309.hp1 NA18943.hp1 NA18968.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0284 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0284	3	328	0.0092	36	c.67+ others(53): Show c.67+20895_67+20896insATATATATATATATATATTTTTTTTTTT TTTTTTTT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAZF1_chr7_27825577_28185795	27849752	G G	GACACAGA others(29): Show GACACAGACACACACACACAGACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18522.hp1 HG03486.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0131 a0001c0001t0006g0160 a0001c0001t0006g0131 a0001c0001t0006g0160	2	206	0.0097	36	c.386 others(53): Show c.386-8886_386-8885insGTGTGTGTGTGTGTGTCTGTGTGTGTGT GTCTGTGT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	3/4			chr7	TogoVar
JAZF1_chr7_27825577_28185795	27849752	G G	GACACAGA others(29): Show GACACAGACACAGACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	206	0.0049	36	c.386 others(53): Show c.386-8886_386-8885insGTGTGTGTGTGTGTGTGTGTGTGTCTGT GTCTGTGT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	3/4			chr7	TogoVar
JAZF1_chr7_27825577_28185795	27898304	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	206	0.0049	36	c.189 others(53): Show c.189-2889_189-2888insGTATATATATATATATATATATATATAT ATATATAT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	2/4			chr7	TogoVar
JKAMP_chr14_59479517_59510410	59508399	T T	TACACACA others(29): Show TACACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	358	0.0028	36	c.43 others(47): Show c.4327_*4328insACACACACACACACACACACACACACACACACAC AC	JKAMP	ENSG00000050130.18	transcript	ENST00000616435.5	protein_coding		2990		chr14	TogoVar
JMJD1C_chr10_63162225_63470977	63337624	A A	AAAAGAAA others(29): Show AAAAGAAAAGAAAAGAAAAGAAAAAGAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0001 a0001c0032t0001	a0001c0032t0001g0145 a0001c0032t0001g0145	1	310	0.0032	36	c.333 others(55): Show c.333+42693_333+42694insCTTTTCTTTTTCTTTTTCTTTTCTTT TCTTTTCTTT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 NA19009.hp2 HG01257.hp1 NA19009.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0002 a0005c0006t0002 a0001c0001t0002 a0005c0006t0002	a0001c0001t0002g0034 a0005c0006t0002g0034 a0001c0001t0002g0034 a0005c0006t0002g0034	2	386	0.0052	36	c.65- others(51): Show c.65-1325_65-1324insATATATATATATATATATATATATATATTT TTTTTT	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	386	0.0026	36	c.65- others(51): Show c.65-1325_65-1324insATATATATATATATATATATATATATTTTT TTTTTT	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(29): Show ATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	386	0.0026	36	c.65- others(51): Show c.65-1325_65-1324insATATATATATATATATATATATTTTTTTTT TTTTTT	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JPH1_chr8_74229700_74326540	74296019	G G	GACACACA others(29): Show GACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	330	0.0030	36	c.113 others(57): Show c.1139+18841_1139+18842insGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	JPH1	ENSG00000104369.5	transcript	ENST00000342232.5	protein_coding	2/5			chr8	TogoVar
JPH2_chr20_44101590_44192188	44126168	G G	GAGGGAGG others(29): Show GAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0112 a0002c0002t0018g0112	1	338	0.0030	36	c.117 others(55): Show c.1170-7546_1170-7545insTCCTTCCTTCCTTCCTTCCTTCCTTC CTCCCTCCCT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44126168	G G	GAGGGAGG others(29): Show GAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01167.hp1 HG02040.hp1 others(11): Show HG00438.hp1 HG01167.hp1 HG02040.hp1 HG02155.hp1 HG02451.hp2 HG02647.hp2 HG02809.hp1 HG02976.hp2 HG03688.hp2 HG04199.hp1 NA18612.hp2 NA18986.hp2 NA18995.hp2 NA19003.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0006 a0001c0007 others(2): Show a0001c0001 a0001c0006 a0001c0007 a0002c0002 a0007c0022	a0001c0001t0078 a0001c0006t0021 a0001c0006t0056 others(9): Show a0001c0001t0078 a0001c0006t0021 a0001c0006t0056 a0001c0006t0087 a0001c0007t0075 a0002c0002t0006 a0002c0002t0013 a0002c0002t0031 a0002c0002t0067 a0002c0002t0080 a0002c0002t0082 a0007c0022t0031	a0001c0001t0078g0159 a0001c0006t0021g0228 a0001c0006t0021g0256 others(11): Show a0001c0001t0078g0159 a0001c0006t0021g0228 a0001c0006t0021g0256 a0001c0006t0056g0097 a0001c0006t0087g0222 a0001c0007t0075g0180 a0002c0002t0006g0166 a0002c0002t0006g0172 a0002c0002t0013g0141 a0002c0002t0031g0227 a0002c0002t0067g0136 a0002c0002t0080g0175 a0002c0002t0082g0182 a0007c0022t0031g0265	14	338	0.0414	36	c.117 others(55): Show c.1170-7546_1170-7545insTCCTTCCTTCCTTCCTTCCTTCCTCC CTCCCTCCCT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44126168	G G	GAGGGAGG others(29): Show GAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA19005.hp2 NA19070.hp1 HG01099.hp1 NA19005.hp2 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0005 a0001c0006 a0002c0005	a0001c0006t0011 a0001c0006t0021 a0002c0005t0004 a0001c0006t0011 a0001c0006t0021 a0002c0005t0004	a0001c0006t0011g0161 a0001c0006t0021g0235 a0002c0005t0004g0220 a0001c0006t0011g0161 a0001c0006t0021g0235 a0002c0005t0004g0220	3	338	0.0089	36	c.117 others(55): Show c.1170-7546_1170-7545insTCCTTCCTTCCTTCCTTCCTCCCTCC CTCCCTCCCT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44126168	G G	GAGGGAGG others(29): Show GAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18963.hp2 NA18970.hp2 others(2): Show HG00558.hp1 NA18963.hp2 NA18970.hp2 NA19009.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0003 a0002c0002t0042 a0002c0002t0085 others(2): Show a0002c0002t0003 a0002c0002t0042 a0002c0002t0085 a0002c0005t0010 a0002c0005t0054	a0002c0002t0003g0029 a0002c0002t0042g0025 a0002c0002t0085g0278 others(2): Show a0002c0002t0003g0029 a0002c0002t0042g0025 a0002c0002t0085g0278 a0002c0005t0010g0012 a0002c0005t0054g0020	5	338	0.0148	36	c.117 others(55): Show c.1170-7546_1170-7545insTCCTTCCTTCCTTCCTCCCTCCCTCC CTCCCTCCCT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44134252	T T	TAAATATT others(29): Show TAAATATTTATTATAAATATATAAATATTTATTATAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0127 a0001c0004t0016g0127	1	338	0.0030	36	c.117 others(57): Show c.1170-15630_1170-15629insTTATAATAAATATTTATATATTTA TAATAAATATTT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH3_chr16_87597508_87703156	87604287	C C	CCTGCTGC others(29): Show CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0009 a0001c0003t0002g0009	1	380	0.0026	36	c.382 others(51): Show c.382+766_382+801dupCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG CTGCTG	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar

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