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 per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	408	0.0025	36	c.25 others(47): Show c.2531_*2532insAAAAAAAAAATATATATATATATATATATATATA TA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(29): Show ATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	408	0.0025	36	c.25 others(47): Show c.2531_*2532insAAAAAAAAAAAAAAAAAAAAAAAAAATATATATA TA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17463795	A A	AAGAAGGA others(29): Show AAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	408	0.0025	36	c.-29 others(47): Show c.-2927_-2926insCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2870		chr19	TogoVar
NXN_chr17_794310_984776	839797	T T	TAAAAAAA others(29): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA19240.hp1 HG02486.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0225 a0001c0001t0001g0229	2	242	0.0083	36	c.361 others(55): Show c.361-13720_361-13719insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949009	C C	CCCCCTGC others(29): Show CCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	242	0.0041	36	c.360 others(55): Show c.360+30309_360+30310insAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCAGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949109	G G	GCCTCCTC others(29): Show GCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0006 a0001c0001t0010g0006	1	242	0.0041	36	c.360 others(55): Show c.360+30209_360+30210insAGGGGGAGAGGAGGAGGCAGGGGGGA GAGGAGGAGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949204	T T	TGCCTCCT others(29): Show TGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCGC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0010 a0001c0001t0027g0010	1	242	0.0041	36	c.360 others(55): Show c.360+30114_360+30115insGCGGGGAGAGGAGGAGGCAGGGGGAG AGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949489	T T	TGCCTCCT others(29): Show TGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCGC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0233 a0001c0004t0007g0233	1	242	0.0041	36	c.360 others(55): Show c.360+29829_360+29830insGCGGGGAGAGGAGGAGGCAGGGGGAG AGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949673	C C	CCCCCGGC others(29): Show CCCCCGGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	242	0.0041	36	c.360 others(55): Show c.360+29645_360+29646insAGAGGAGGAGGCCGCGGGGAGAGGAG GAGGCCGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	983611	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	242	0.0041	36	c.-39 others(47): Show c.-3934_-3933insGTGTGTGTATATATATATATATATATATATATAT AT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding		3836		chr17	TogoVar
NXPE4_chr11_114565591_114600786	114584486	C C	CAGATGAA others(29): Show CAGATGAATTACCTGTGAGGAAGAGTTCTTCGACTCT	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	432	0.0023	36	c.97- others(51): Show c.97-1501_97-1466dupAGAGTCGAAGAACTCTTCCTCACAGGTAAT TCATCT	NXPE4	ENSG00000137634.10	transcript	ENST00000375478.4	protein_coding	2/5			chr11	TogoVar
NXPE4_chr11_114565591_114600786	114598292	G G	GTGGGGTT others(29): Show GTGGGGTTCAGTCCCTGCAGCTGCTCTCAAGGGCTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00408.hp1 others(290): Show HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0017 a0002c0002 others(14): Show a0001c0001 a0001c0017 a0002c0002 a0002c0012 a0002c0019 a0003c0003 a0003c0004 a0003c0015 a0003c0018 a0003c0020 a0004c0005 a0005c0006 a0006c0007 a0007c0008 a0008c0010 a0009c0013 a0010c0014	a0001c0001t0001 a0001c0017t0001 a0002c0002t0001 others(20): Show a0001c0001t0001 a0001c0017t0001 a0002c0002t0001 a0002c0002t0007 a0002c0002t0009 a0002c0012t0001 a0002c0019t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 a0003c0003t0006 a0003c0004t0002 a0003c0015t0001 a0003c0018t0002 a0003c0020t0002 a0004c0005t0001 a0005c0006t0002 a0006c0007t0002 a0007c0008t0001 a0008c0010t0001 a0009c0013t0008 a0010c0014t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(159): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0017t0001g0218 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0013 a0002c0002t0001g0015 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0031 a0002c0002t0001g0036 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0054 a0002c0002t0001g0057 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0062 a0002c0002t0001g0084 a0002c0002t0001g0090 a0002c0002t0001g0108 a0002c0002t0001g0111 a0002c0002t0001g0114 a0002c0002t0001g0149 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0166 a0002c0002t0001g0168 a0002c0002t0001g0182 a0002c0002t0001g0189 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0197 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0204 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0212 a0002c0002t0001g0215 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0225 a0002c0002t0007g0208 a0002c0002t0009g0228 a0002c0012t0001g0110 a0002c0019t0001g0199 a0003c0003t0001g0018 a0003c0003t0001g0037 a0003c0003t0001g0074 a0003c0003t0001g0076 a0003c0003t0001g0079 a0003c0003t0001g0082 a0003c0003t0001g0083 a0003c0003t0001g0099 a0003c0003t0002g0034 a0003c0003t0002g0035 a0003c0003t0002g0067 a0003c0003t0002g0073 a0003c0003t0002g0078 a0003c0003t0002g0100 a0003c0003t0002g0104 a0003c0003t0002g0167 a0003c0003t0003g0032 a0003c0003t0003g0061 a0003c0003t0003g0063 a0003c0003t0003g0069 a0003c0003t0003g0070 a0003c0003t0003g0071 a0003c0003t0005g0075 a0003c0003t0005g0077 a0003c0003t0005g0152 a0003c0003t0006g0068 a0003c0003t0006g0080 a0003c0003t0006g0150 a0003c0004t0002g0007 a0003c0004t0002g0021 a0003c0004t0002g0040 a0003c0004t0002g0046 a0003c0004t0002g0086 a0003c0004t0002g0165 a0003c0004t0002g0171 a0003c0004t0002g0179 a0003c0004t0002g0193 a0003c0004t0002g0214 a0003c0015t0001g0096 a0003c0018t0002g0103 a0003c0020t0002g0085 a0004c0005t0001g0095 a0004c0005t0001g0097 a0004c0005t0001g0098 a0005c0006t0002g0087 a0005c0006t0002g0088 a0006c0007t0002g0033 a0007c0008t0001g0047 a0008c0010t0001g0173 a0009c0013t0008g0157 a0010c0014t0002g0072	293	432	0.6782	36	c.-27 others(47): Show c.-2712_-2711insTCAGCCCTTGAGAGCAGCTGCAGGGACTGAACCC CA	NXPE4	ENSG00000137634.10	transcript	ENST00000375478.4	protein_coding		2507		chr11	TogoVar
NYAP2_chr2_225394710_225708654	225512852	T T	TCTTTCTT others(29): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02896.hp1 HG02886.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0021 a0001c0001t0017g0107 a0001c0001t0017g0021 a0001c0001t0017g0107	2	192	0.0104	36	c.222 others(51): Show c.222-516_222-515insTCTTTCTTTCTTTCTTTCTTTCTTCCTTCC TTCCTT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NYAP2_chr2_225394710_225708654	225589516	A A	AAAATATA others(29): Show AAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG04184.hp1 HG03654.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0002 a0001c0001t0001 a0001c0009t0002	a0001c0001t0001g0029 a0001c0009t0002g0170 a0001c0001t0001g0029 a0001c0009t0002g0170	2	192	0.0104	36	c.161 others(55): Show c.1618+6482_1618+6483insAATATATATATATATATATATATATA TATATATATA	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NYAP2_chr2_225394710_225708654	225597512	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01169.hp2 HG01981.hp1 others(11): Show HG00438.hp1 HG01169.hp2 HG01981.hp1 HG02300.hp2 HG02630.hp1 HG03195.hp2 HG03453.hp2 HG03540.hp2 HG03654.hp2 HG06807.hp1 NA18947.hp1 NA19066.hp1 NA19066.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 a0001c0002t0001 a0001c0002t0008 a0001c0003t0003 a0001c0004t0002 a0001c0007t0005	a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0110 others(11): Show a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0110 a0001c0001t0002g0004 a0001c0001t0022g0092 a0001c0002t0001g0034 a0001c0002t0001g0104 a0001c0002t0001g0121 a0001c0002t0008g0012 a0001c0002t0008g0182 a0001c0003t0003g0050 a0001c0004t0002g0147 a0001c0007t0005g0138 a0001c0007t0005g0154	14	192	0.0729	36	c.161 others(57): Show c.1618+14495_1618+14496insATATATATATATATATATATATAT ATATATATATAT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
OC90_chr8_132019216_132064382	132028563	A A	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02074.hp1 NA18954.hp1 HG01243.hp2 HG02074.hp1 NA18954.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0062 a0002c0003t0001g0093 a0002c0003t0001g0115 a0002c0003t0001g0062 a0002c0003t0001g0093 a0002c0003t0001g0115	3	408	0.0074	36	c.113 others(53): Show c.1138+509_1138+510insCCTTCCTTCCTTCCTTCCTTCCTTTCTT TCTTTCTT	OC90	ENSG00000253117.5	transcript	ENST00000254627.4	protein_coding	13/13			chr8	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0110 a0001c0005t0001g0110	1	110	0.0091	36	c.243 others(57): Show c.2432+20356_2432+20357insTATATATATATATATATATATAGA GAGAGAGAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0013 a0013	a0013c0029 a0013c0029	a0013c0029t0001 a0013c0029t0001	a0013c0029t0001g0019 a0013c0029t0001g0019	1	110	0.0091	36	c.243 others(57): Show c.2432+20356_2432+20357insTATATATATATATATATATAGAGA GAGAGAGAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0008 a0008	a0008c0044 a0008c0044	a0008c0044t0001 a0008c0044t0001	a0008c0044t0001g0071 a0008c0044t0001g0071	1	110	0.0091	36	c.243 others(57): Show c.2432+20356_2432+20357insTATATATATATATATATAGAGAGA GAGAGAGAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0014 a0001c0024 a0001c0014 a0001c0024	a0001c0014t0001 a0001c0024t0001 a0001c0014t0001 a0001c0024t0001	a0001c0014t0001g0035 a0001c0024t0001g0015 a0001c0014t0001g0035 a0001c0024t0001g0015	2	110	0.0182	36	c.243 others(57): Show c.2432+20356_2432+20357insTATATATATATATATAGAGAGAGA GAGAGAGAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	28035776	G G	GTGCCTAT others(29): Show GTGCCTATACATTTATAAGCATTTATAAGCTTATAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02922.hp1 HG02451.hp2 HG02922.hp1	a0001 a0001	a0001c0007 a0001c0033 a0001c0007 a0001c0033	a0001c0007t0001 a0001c0033t0006 a0001c0007t0001 a0001c0033t0006	a0001c0007t0001g0024 a0001c0033t0006g0022 a0001c0007t0001g0024 a0001c0033t0006g0022	2	110	0.0182	36	c.228 others(53): Show c.228-3649_228-3614dupTTTATAAGCTTATAAATGCTTATAAATG TATAGGCA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	2/23			chr15	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTCTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02970.hp1 HG02486.hp2 HG02970.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0016 a0002c0003t0001g0016	2	444	0.0045	36	c.-78 others(45): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTATATATATATATATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	444	0.0023	36	c.-78 others(45): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG04228.hp1 HG01361.hp1 HG04228.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	2	444	0.0045	36	c.-78 others(45): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG02572.hp2 HG01433.hp2 HG02572.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	2	444	0.0045	36	c.-78 others(45): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCM2_chr7_97979687_97995196	97985431	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	450	0.0022	36	c.305 others(51): Show c.305-449_305-448insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	OCM2	ENSG00000135175.6	transcript	ENST00000257627.5	protein_coding	3/3			chr7	TogoVar
OCSTAMP_chr20_46535946_46555654	46549806	C C	CTGTGTGT others(29): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18949.hp2 NA18971.hp1 HG00673.hp1 NA18949.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0033 a0001c0012t0001g0080 a0001c0001t0001g0033 a0001c0012t0001g0080	3	442	0.0068	36	c.44+ others(49): Show c.44+710_44+711insCACACACACACACACACACACACACACACACA CACA	OCSTAMP	ENSG00000149635.3	transcript	ENST00000279028.3	protein_coding	1/2			chr20	TogoVar
ODAD2_chr10_27807168_28004079	27882169	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0094 a0001c0002t0002g0094	1	304	0.0033	36	c.261 others(57): Show c.2611-19548_2611-19547insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	17/19			chr10	TogoVar
ODAD2_chr10_27807168_28004079	27885885	A A	ATATATAT others(29): Show ATATATATATTTATATATAAAAATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03486.hp2 HG03579.hp2 others(3): Show HG03130.hp2 HG03486.hp2 HG03579.hp2 NA19043.hp2 NA19057.hp1 NA19057.hp2	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0001 a0001c0010 a0007c0006 others(2): Show a0001c0001 a0001c0010 a0007c0006 a0009c0028 a0009c0032	a0001c0001t0001 a0001c0010t0001 a0007c0006t0001 others(2): Show a0001c0001t0001 a0001c0010t0001 a0007c0006t0001 a0009c0028t0001 a0009c0032t0002	a0001c0001t0001g0071 a0001c0010t0001g0200 a0001c0010t0001g0202 others(3): Show a0001c0001t0001g0071 a0001c0010t0001g0200 a0001c0010t0001g0202 a0007c0006t0001g0233 a0009c0028t0001g0191 a0009c0032t0002g0020	6	304	0.0197	36	c.261 others(57): Show c.2610+21742_2610+21777dupAAAATATATATATATTTTTATATA TAAATATATATA	ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	17/19			chr10	TogoVar
ODAD3_chr19_11415605_11440121	11424597	A A	ATGTATAT others(29): Show ATGTATATATGTGTATATATACCTATGTGTATATATG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	398	0.0025	36	c.964 others(51): Show c.964-569_964-568insCATATATACACATAGGTATATATACACATA TATACA	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
ODAD3_chr19_11415605_11440121	11424907	A A	ATATGTGG others(29): Show ATATGTGGTATATATACCTATGTGTATATATGTATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	398	0.0025	36	c.964 others(51): Show c.964-879_964-878insATATACATATATACACATAGGTATATATAC CACATA	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
ODAD3_chr19_11415605_11440121	11424997	G G	GTATATAT others(29): Show GTATATATGTATATATGTGTATATGTACCTATGTGTA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	398	0.0025	36	c.964 others(51): Show c.964-969_964-968insTACACATAGGTACATATACACATATATACA TATATA	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
ODAD3_chr19_11415605_11440121	11425071	G G	GTATATAT others(29): Show GTATATATGTGTATATGTACATATGTGTATATATGTA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp2 HG03130.hp2 HG02109.hp1 HG02145.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0267 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0267	3	398	0.0075	36	c.964 others(53): Show c.964-1043_964-1042insTACATATATACACATATGTACATATACA CATATATA	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
ODF2_chr9_128451006_128506292	128470018	A A	AAAAAAAA others(29): Show AAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0244 a0008c0013t0001g0244	1	346	0.0029	36	c.669 others(51): Show c.669+666_669+667insAAAAAATATATATATATATATATATATATA TATATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
ODF2_chr9_128451006_128506292	128470018	A A	AAAAAATA others(29): Show AAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	346	0.0029	36	c.669 others(51): Show c.669+666_669+667insAAAATATATATATATATATATATATATATA TATATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
OLA1_chr2_174067447_174253532	174253144	T T	TTTTCTCT others(29): Show TTTTCTCTCTCTACACTAAGCTTACTATCATATCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0235 a0001c0001t0007g0235	1	262	0.0038	36	c.-46 others(47): Show c.-4694_-4693insCTGGATATGATAGTAAGCTTAGTGTAGAGAGAGA AA	OLA1	ENSG00000138430.16	transcript	ENST00000284719.8	protein_coding		4613		chr2	TogoVar
OLFM2_chr19_9848718_9941515	9900999	G G	GGGGGAGG others(29): Show GGGGGAGGGAGGGAAGGAGGAAGGGAGGGAAGGAAGC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	342	0.0029	36	c.63+ others(53): Show c.63+35269_63+35304dupGCTTCCTTCCCTCCCTTCCTCCTTCCCT CCCTCCCC	OLFM2	ENSG00000105088.9	transcript	ENST00000264833.9	protein_coding	1/5			chr19	TogoVar
OPA3_chr19_45541281_45589802	45566958	C C	CTAGGACA others(29): Show CTAGGACAGTTATTAAACAAAGCATGGCATATTCATA	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0267 a0001c0001t0088g0267	1	398	0.0025	36	c.143 others(55): Show c.143-13083_143-13048dupTATGAATATGCCATGCTTTGTTTAAT AACTGTCCTA	OPA3	ENSG00000125741.6	transcript	ENST00000263275.5	protein_coding	1/1			chr19	TogoVar
OPCML_chr11_132409981_133537501	133140916	A A	AGACGAAG others(29): Show AGACGAAGAAGACGAAGAAGACGAAGAAGACGAAGAC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0059 a0001c0001t0028g0059	1	68	0.0147	36	c.62- others(55): Show c.62-197907_62-197906insGTCTTCGTCTTCTTCGTCTTCTTCGT CTTCTTCGTC	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133140994	A A	AGACGAAG others(29): Show AGACGAAGACGAAGACGAAGAAGACGAAGACGAAGAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0056 a0001c0001t0011g0056	1	68	0.0147	36	c.62- others(55): Show c.62-197985_62-197984insGTCTTCGTCTTCGTCTTCTTCGTCTT CGTCTTCGTC	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133422377	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA20905.hp2 HG01891.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0014 a0001c0001t0006 a0001c0001t0014	a0001c0001t0006g0045 a0001c0001t0014g0017 a0001c0001t0006g0045 a0001c0001t0014g0017	2	68	0.0294	36	c.61+ others(55): Show c.61+109886_61+109887insTATATATATATATATATATATATATA TATATATATA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133440762	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0053 a0001c0001t0026g0053	1	68	0.0147	36	c.61+ others(53): Show c.61+91501_61+91502insTATATATATATATATATATATATATATA TATATATA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPHN1_chrX_68037344_68438495	68125954	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	155	0.0065	36	c.127 others(55): Show c.1277-6623_1277-6622insGTATATATATATATATATATATATAT ATATATATAT	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	15/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68287156	G G	GGAAAGAA others(29): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp1 HG02615.hp1 others(7): Show HG01243.hp1 HG02109.hp1 HG02615.hp1 HG02895.hp1 HG03130.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0030	a0001c0001t0002g0135 a0001c0001t0003g0109 a0001c0001t0003g0122 others(7): Show a0001c0001t0002g0135 a0001c0001t0003g0109 a0001c0001t0003g0122 a0001c0001t0004g0004 a0001c0001t0004g0026 a0001c0001t0007g0022 a0001c0001t0007g0032 a0001c0001t0007g0033 a0001c0001t0009g0129 a0001c0001t0030g0155	10	155	0.0645	36	c.251 others(53): Show c.251-4040_251-4039insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	3/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68317338	G G	GGAAAGAA others(29): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18995.hp1 NA18522.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0009 a0001c0001t0003g0151 a0001c0001t0001g0009 a0001c0001t0003g0151	2	155	0.0129	36	c.155 others(55): Show c.155-18278_155-18243dupTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68317376	A A	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	155	0.0065	36	c.155 others(55): Show c.155-18281_155-18280insCCTTCCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTT	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68370011	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp1 HG02132.hp1 HG00735.hp2 HG01081.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0022 a0001c0001t0002 a0001c0001t0004 a0001c0001t0022	a0001c0001t0002g0144 a0001c0001t0004g0005 a0001c0001t0022g0103 a0001c0001t0002g0144 a0001c0001t0004g0005 a0001c0001t0022g0103	3	155	0.0194	36	c.154 others(55): Show c.154+62855_154+62856insATATATATATATATATATATATATAT ATATATATAT	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68426569	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03017.hp1 NA18955.hp1 others(2): Show HG01081.hp2 HG03017.hp1 NA18955.hp1 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0080 a0001c0001t0001g0098 a0001c0001t0003g0122 others(2): Show a0001c0001t0001g0080 a0001c0001t0001g0098 a0001c0001t0003g0122 a0001c0001t0004g0030 a0001c0001t0007g0033	5	155	0.0323	36	c.154 others(53): Show c.154+6297_154+6298insTTATATATATATATATATATATATATAT ATATATAT	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPN5_chr6_47777032_47831381	47819336	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01074.hp1 HG01243.hp2 others(13): Show HG00609.hp2 HG01074.hp1 HG01243.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01934.hp2 HG02071.hp1 HG02129.hp2 HG02273.hp2 NA18945.hp1 NA18950.hp1 NA18950.hp2 NA18968.hp1 NA18994.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012	a0001c0001t0001g0116 a0001c0001t0001g0158 a0001c0001t0001g0172 others(13): Show a0001c0001t0001g0116 a0001c0001t0001g0158 a0001c0001t0001g0172 a0001c0001t0001g0180 a0001c0001t0001g0191 a0001c0001t0001g0218 a0001c0001t0001g0228 a0001c0001t0001g0250 a0001c0001t0001g0261 a0001c0001t0003g0081 a0001c0001t0004g0140 a0001c0001t0004g0162 a0001c0001t0004g0198 a0001c0001t0004g0205 a0001c0001t0012g0169 a0001c0001t0012g0221	16	322	0.0497	36	c.105 others(55): Show c.1057-4630_1057-4629insTATATATATATATATATATATATATA TATATATATA	OPN5	ENSG00000124818.16	transcript	ENST00000371211.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
OPRL1_chr20_64075082_64105633	64094291	A A	AGTGTGGG others(29): Show AGTGTGGGGGCAGTGTGTGGGTCAGTGTGCGGGCAGT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0015 a0001c0001t0005g0015	1	66	0.0152	36	c.233 others(53): Show c.233+1347_233+1348insCAGTGTGTGGGTCAGTGTGCGGGCAGTG TGTGGGGG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr20	TogoVar

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