Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ROBO2_chr3_77035099_77654964	77200267	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03540.hp1 HG06807.hp1 HG02896.hp2 HG03540.hp1 HG06807.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0001c0003 a0005c0013 a0001c0002 a0001c0003 a0005c0013	a0001c0002t0024 a0001c0003t0026 a0005c0013t0005 a0001c0002t0024 a0001c0003t0026 a0005c0013t0005	a0001c0002t0024g0001 a0001c0003t0026g0081 a0005c0013t0005g0106 a0001c0002t0024g0001 a0001c0003t0026g0081 a0005c0013t0005g0106	3	160	0.0188	-24	c.388 others(45): Show c.388+101959_388+101982delATATATATATATATATATATATAT		ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77200299	ATATATAT others(17): Show ATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0035	1	160	0.0063	-24	c.388 others(45): Show c.388+101961_388+101984delATATATATATATATATATATATTT		ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77380655	TCTTCCCT others(17): Show TCTTCCCTCCCTCCCTCTCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0032 a0001c0001t0008g0032	1	160	0.0063	-24	c.389 others(43): Show c.389-96742_389-96719delTCTCCCTCCTTCCCTCCCTCCCTC		ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77426678	CAGGAAGG others(17): Show CAGGAAGGAAGGAAGGAAGGAAGGA	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0052 a0001c0001t0038g0052	1	160	0.0063	-24	c.389 others(43): Show c.389-50702_389-50679delGGAAGGAAGGAAGGAAGGAAGGAA		ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77473440	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03579.hp2 HG06807.hp1 others(2): Show HG02809.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0013 a0001c0001 a0001c0002 a0005c0013	a0001c0001t0003 a0001c0001t0011 a0001c0001t0038 others(2): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0038 a0001c0002t0014 a0005c0013t0005	a0001c0001t0003g0014 a0001c0001t0011g0154 a0001c0001t0038g0052 others(2): Show a0001c0001t0003g0014 a0001c0001t0011g0154 a0001c0001t0038g0052 a0001c0002t0014g0003 a0005c0013t0005g0106	5	160	0.0313	-24	c.389 others(41): Show c.389-3960_389-3937delTTTTTTTTTTTTTTTTTTTTTTTT		ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77596462	CTTAATGA others(17): Show CTTAATGAATTGCTGGAGTTCTTTA	C C	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0021 a0001c0001t0006g0021	1	160	0.0063	-24	c.273 others(41): Show c.2739-160_2739-137delTTAATGAATTGCTGGAGTTCTTTA		ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	19/27						chr3	TogoVar
ROBO3_chr11_124860432_124886471	124881708	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 NA18990.hp1 HG03098.hp2 NA18990.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0108 a0002c0003t0001g0089 a0001c0001t0001g0108 a0002c0003t0001g0089	2	402	0.0050	-24	c.45 others(33): Show c.459_*482delACACACACACACACACACACACAC		ROBO3	ENSG00000154134.15	transcript	ENST00000397801.6	protein_coding					238		chr11	TogoVar
ROBO4_chr11_124878691_124902865	124881708	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 NA18961.hp1 NA18990.hp2 others(1): Show HG03098.hp1 NA18961.hp1 NA18990.hp2 NA18994.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0002c0008t0001 a0001c0001t0001 a0002c0008t0001	a0001c0001t0001g0001 a0002c0008t0001g0074 a0001c0001t0001g0001 a0002c0008t0001g0074	4	400	0.0100	-24	c.31 others(35): Show c.3159_*3182delGTGTGTGTGTGTGTGTGTGTGTGT		ROBO4	ENSG00000154133.15	transcript	ENST00000306534.8	protein_coding					1982		chr11	TogoVar
ROCK1_chr18_20941906_21116813	20971665	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02735.hp1 HG01361.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0093 a0001c0001t0003g0058 a0001c0001t0003g0093	2	212	0.0094	-24	c.265 others(43): Show c.2655-1176_2655-1153delATTTATTTATTTATTTATTTATTT		ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	22/32						chr18	TogoVar
ROCK2_chr2_11174759_11349636	11270105	TAATTTTG others(17): Show TAATTTTGCTTTCTTTTTTATTCGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(255): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0003 a0001c0006 others(9): Show a0001c0001 a0001c0003 a0001c0006 a0001c0010 a0001c0011 a0002c0002 a0002c0004 a0002c0005 a0002c0013 a0004c0009 a0005c0008 a0006c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(68): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0001t0042 a0001c0001t0049 a0001c0001t0050 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0066 a0001c0001t0068 a0001c0001t0069 a0001c0003t0006 a0001c0003t0012 a0001c0003t0048 a0001c0003t0052 a0001c0006t0001 a0001c0010t0051 a0001c0011t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0011 a0002c0002t0014 a0002c0002t0015 a0002c0002t0017 a0002c0002t0018 a0002c0002t0028 a0002c0002t0032 a0002c0002t0034 a0002c0002t0035 a0002c0002t0036 a0002c0002t0037 a0002c0002t0038 a0002c0002t0039 a0002c0002t0040 a0002c0002t0041 a0002c0002t0043 a0002c0002t0044 a0002c0002t0045 a0002c0002t0046 a0002c0002t0047 a0002c0002t0075 a0002c0002t0076 a0002c0002t0077 a0002c0002t0079 a0002c0004t0002 a0002c0005t0013 a0002c0013t0031 a0004c0009t0014 a0005c0008t0002 a0006c0012t0001	a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(255): Show a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0002g0065 a0001c0001t0002g0106 a0001c0001t0003g0040 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0213 a0001c0001t0004g0215 a0001c0001t0007g0211 a0001c0001t0007g0217 a0001c0001t0007g0218 a0001c0001t0007g0219 a0001c0001t0007g0220 a0001c0001t0007g0274 a0001c0001t0008g0122 a0001c0001t0008g0127 a0001c0001t0008g0135 a0001c0001t0008g0152 a0001c0001t0008g0153 a0001c0001t0008g0177 a0001c0001t0008g0190 a0001c0001t0008g0206 a0001c0001t0010g0155 a0001c0001t0010g0164 a0001c0001t0010g0165 a0001c0001t0010g0172 a0001c0001t0010g0173 a0001c0001t0010g0227 a0001c0001t0012g0118 a0001c0001t0016g0156 a0001c0001t0016g0159 a0001c0001t0016g0183 a0001c0001t0019g0167 a0001c0001t0019g0223 a0001c0001t0020g0204 a0001c0001t0020g0277 a0001c0001t0021g0146 a0001c0001t0021g0170 a0001c0001t0022g0132 a0001c0001t0022g0181 a0001c0001t0023g0134 a0001c0001t0023g0197 a0001c0001t0024g0216 a0001c0001t0029g0002 a0001c0001t0030g0003 a0001c0001t0033g0007 a0001c0001t0042g0071 a0001c0001t0049g0109 a0001c0001t0050g0110 a0001c0001t0054g0214 a0001c0001t0056g0176 a0001c0001t0057g0169 a0001c0001t0058g0189 a0001c0001t0059g0194 a0001c0001t0060g0205 a0001c0001t0061g0180 a0001c0001t0062g0166 a0001c0001t0066g0212 a0001c0001t0068g0147 a0001c0001t0069g0191 a0001c0003t0006g0233 a0001c0003t0006g0298 a0001c0003t0006g0300 a0001c0003t0006g0301 a0001c0003t0006g0303 a0001c0003t0006g0304 a0001c0003t0006g0306 a0001c0003t0006g0307 a0001c0003t0006g0308 a0001c0003t0006g0309 a0001c0003t0006g0310 a0001c0003t0006g0311 a0001c0003t0006g0312 a0001c0003t0012g0297 a0001c0003t0012g0299 a0001c0003t0012g0302 a0001c0003t0012g0305 a0001c0003t0048g0111 a0001c0003t0052g0234 a0001c0006t0001g0131 a0001c0010t0051g0133 a0001c0011t0001g0157 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0020 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0026 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0038 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0050 a0002c0002t0002g0053 a0002c0002t0002g0056 a0002c0002t0002g0058 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0080 a0002c0002t0002g0082 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0105 a0002c0002t0002g0107 a0002c0002t0003g0013 a0002c0002t0003g0014 a0002c0002t0003g0017 a0002c0002t0003g0018 a0002c0002t0003g0028 a0002c0002t0003g0031 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0003g0051 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0003g0078 a0002c0002t0003g0086 a0002c0002t0003g0088 a0002c0002t0003g0093 a0002c0002t0003g0094 a0002c0002t0003g0095 a0002c0002t0003g0096 a0002c0002t0003g0097 a0002c0002t0003g0100 a0002c0002t0003g0108 a0002c0002t0011g0112 a0002c0002t0011g0113 a0002c0002t0011g0114 a0002c0002t0011g0115 a0002c0002t0011g0116 a0002c0002t0011g0117 a0002c0002t0014g0029 a0002c0002t0014g0052 a0002c0002t0014g0066 a0002c0002t0015g0005 a0002c0002t0015g0006 a0002c0002t0015g0049 a0002c0002t0017g0224 a0002c0002t0017g0225 a0002c0002t0018g0027 a0002c0002t0018g0081 a0002c0002t0028g0314 a0002c0002t0028g0316 a0002c0002t0032g0070 a0002c0002t0034g0085 a0002c0002t0035g0059 a0002c0002t0036g0043 a0002c0002t0037g0030 a0002c0002t0038g0091 a0002c0002t0039g0057 a0002c0002t0040g0042 a0002c0002t0041g0084 a0002c0002t0043g0104 a0002c0002t0044g0035 a0002c0002t0045g0044 a0002c0002t0046g0019 a0002c0002t0047g0025 a0002c0002t0075g0226 a0002c0002t0076g0315 a0002c0002t0077g0317 a0002c0002t0079g0319 a0002c0004t0002g0021 a0002c0004t0002g0039 a0002c0004t0002g0041 a0002c0004t0002g0045 a0002c0004t0002g0060 a0002c0004t0002g0061 a0002c0004t0002g0092 a0002c0005t0013g0228 a0002c0005t0013g0229 a0002c0005t0013g0230 a0002c0005t0013g0231 a0002c0005t0013g0232 a0002c0013t0031g0004 a0004c0009t0014g0079 a0005c0008t0002g0083 a0006c0012t0001g0160	258	320	0.8063	-24	c.324 others(43): Show c.324+16410_324+16433delGCGAATAAAAAAGAAAGCAAAATT		ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	3/32						chr2	TogoVar
ROR1_chr1_63769017_64186498	63839345	CATCTATC others(17): Show CATCTATCTATCTATCTATCTATCT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0051 a0001c0008t0005g0051	1	96	0.0104	-24	c.91+ others(41): Show c.91+64871_91+64894delTCTATCTATCTATCTATCTATCTA		ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
ROR1_chr1_63769017_64186498	63940482	CAGATAGA others(17): Show CAGATAGATAGACAGACAGATAGAT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03579.hp1 HG02572.hp2 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0065 a0001c0003t0002g0067 a0001c0003t0002g0065 a0001c0003t0002g0067	2	96	0.0208	-24	c.92- others(41): Show c.92-68811_92-68788delCAGACAGATAGATAGATAGATAGA		ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
ROR1_chr1_63769017_64186498	64025612	CATATACA others(17): Show CATATACACACATATGTACATATAT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0004 a0001c0016t0004	a0001c0016t0004g0041 a0001c0016t0004g0041	1	96	0.0104	-24	c.163 others(43): Show c.163+16251_163+16274delGTACATATATATATACACACATAT		ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
ROR1_chr1_63769017_64186498	64121059	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(23): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG01070.hp1 HG01074.hp2 HG01175.hp2 HG01243.hp2 HG01433.hp2 HG01884.hp1 HG01934.hp2 HG01978.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp2 HG02647.hp2 HG02886.hp1 HG02976.hp1 HG03239.hp1 HG03710.hp1 HG06807.hp2 NA18999.hp1 NA18999.hp2 NA19030.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0002c0009 a0002c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0002t0001 a0001c0002t0006 a0001c0002t0015 a0001c0003t0002 a0002c0004t0003 a0002c0009t0003 a0002c0009t0005 a0002c0015t0014	a0001c0001t0001g0017 a0001c0001t0001g0035 a0001c0001t0001g0040 others(23): Show a0001c0001t0001g0017 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0089 a0001c0001t0002g0020 a0001c0001t0002g0039 a0001c0001t0002g0075 a0001c0001t0017g0012 a0001c0002t0001g0063 a0001c0002t0006g0056 a0001c0002t0015g0079 a0001c0003t0002g0019 a0001c0003t0002g0029 a0001c0003t0002g0034 a0001c0003t0002g0036 a0001c0003t0002g0059 a0001c0003t0002g0068 a0001c0003t0002g0074 a0001c0003t0002g0087 a0002c0004t0003g0021 a0002c0004t0003g0030 a0002c0004t0003g0038 a0002c0004t0003g0064 a0002c0009t0003g0002 a0002c0009t0005g0048 a0002c0015t0014g0054	26	96	0.2708	-24	c.483 others(43): Show c.483-16294_483-16271delTTTTTTTTTTTTTTTTTTTTTTTT		ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
ROR2_chr9_91717601_91955228	91718646	CTTGTAGC others(17): Show CTTGTAGCTGCCATCCTCGAGGTGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0015 a0001c0042t0015	a0001c0042t0015g0225 a0001c0042t0015g0225	1	226	0.0044	-24	c.49 others(35): Show c.4992_*5015delCCACCTCGAGGATGGCAGCTACAA		ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding					3954		chr9	TogoVar
RORA_chr15_60483284_61234302	60516199	ATATATAT others(17): Show ATATATATATTTATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0112 a0001c0001t0042g0112	1	118	0.0085	-24	c.283 others(41): Show c.283-1466_283-1443delAATATATATATATAAATATATATA		RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	3/10						chr15	TogoVar
RORA_chr15_60483284_61234302	60542620	GCACACAT others(17): Show GCACACATGCACACCTCACACACGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01168.hp1 HG01169.hp1 others(13): Show HG00639.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02723.hp1 HG03041.hp1 HG03195.hp2 HG03225.hp2 HG03491.hp1 HG03516.hp2 HG03834.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 others(9): Show a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0018 a0001c0001t0024 a0001c0001t0046 a0001c0001t0048 a0001c0002t0003 a0001c0002t0056 a0001c0003t0014 a0001c0004t0008 a0001c0005t0025	a0001c0001t0007g0028 a0001c0001t0007g0057 a0001c0001t0007g0113 others(13): Show a0001c0001t0007g0028 a0001c0001t0007g0057 a0001c0001t0007g0113 a0001c0001t0007g0115 a0001c0001t0010g0088 a0001c0001t0012g0025 a0001c0001t0018g0089 a0001c0001t0024g0103 a0001c0001t0046g0086 a0001c0001t0048g0022 a0001c0002t0003g0017 a0001c0002t0056g0110 a0001c0003t0014g0012 a0001c0003t0014g0114 a0001c0004t0008g0095 a0001c0005t0025g0100	16	118	0.1356	-24	c.197 others(43): Show c.197-10793_197-10770delTCGTGTGTGAGGTGTGCATGTGTG		RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10						chr15	TogoVar
RORA_chr15_60483284_61234302	60798221	GACACACA others(17): Show GACACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02886.hp1 HG03516.hp2 HG01123.hp1 HG02886.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0017 a0001c0001t0040 a0001c0001t0010 a0001c0001t0017 a0001c0001t0040	a0001c0001t0010g0088 a0001c0001t0017g0098 a0001c0001t0040g0074 a0001c0001t0010g0088 a0001c0001t0017g0098 a0001c0001t0040g0074	3	118	0.0254	-24	c.167 others(45): Show c.167-119559_167-119536delGTGTGTGTGTGTGTGTGTGTGTGT		RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10						chr15	TogoVar
RORA_chr15_60483284_61234302	60816007	TATAAGTA others(17): Show TATAAGTATTTATATACTATATATA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03209.hp2 HG02976.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0054 a0001c0005t0004 a0001c0001t0054 a0001c0005t0004	a0001c0001t0054g0093 a0001c0005t0004g0024 a0001c0001t0054g0093 a0001c0005t0004g0024	2	118	0.0170	-24	c.167 others(45): Show c.167-137345_167-137322delTATATATAGTATATAAATACTTAT		RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10						chr15	TogoVar
RORA_chr15_60483284_61234302	61137019	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0018 a0001c0002t0021g0018	1	118	0.0085	-24	c.166 others(43): Show c.166+92010_166+92033delCTTTCTTTCTTTCTTTCTTTCTTT		RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10						chr15	TogoVar
RORB_chr9_74492335_74698177	74549535	GGGAGGGA others(17): Show GGGAGGGAGGGAGGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19007.hp2 NA19054.hp2 NA19001.hp1 NA19007.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0063 a0001c0001t0005 a0001c0001t0008 a0001c0001t0063	a0001c0001t0005g0168 a0001c0001t0008g0197 a0001c0001t0063g0198 a0001c0001t0005g0168 a0001c0001t0008g0197 a0001c0001t0063g0198	3	226	0.0133	-24	c.7+5 others(39): Show c.7+51556_7+51579delGGGAGGGAGGGAAGGAAGGAAGGA		RORB	ENSG00000198963.11	transcript	ENST00000376896.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr9	TogoVar
RORB_chr9_74492335_74698177	74549539	GGGAGGGA others(17): Show GGGAGGGAGGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02074.hp2 HG02148.hp2 others(11): Show HG01243.hp2 HG02074.hp2 HG02148.hp2 HG02293.hp2 HG02622.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG03130.hp2 HG03453.hp1 HG03579.hp2 NA19060.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0035	a0001c0001t0001g0140 a0001c0001t0001g0156 a0001c0001t0001g0223 others(11): Show a0001c0001t0001g0140 a0001c0001t0001g0156 a0001c0001t0001g0223 a0001c0001t0004g0157 a0001c0001t0004g0222 a0001c0001t0004g0224 a0001c0001t0005g0033 a0001c0001t0007g0007 a0001c0001t0007g0008 a0001c0001t0012g0213 a0001c0001t0012g0214 a0001c0001t0015g0014 a0001c0001t0017g0141 a0001c0001t0035g0146	14	226	0.0620	-24	c.7+5 others(39): Show c.7+51560_7+51583delGGGAGGGAAGGAAGGAAGGAAGGA		RORB	ENSG00000198963.11	transcript	ENST00000376896.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr9	TogoVar
RP2_chrX_46832043_46887358	46836336	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG02738.hp1 NA19030.hp2 others(2): Show HG00609.hp1 HG02738.hp1 NA19030.hp2 NA19087.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0176 others(2): Show a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0176 a0001c0001t0001g0194 a0001c0001t0001g0198	5	274	0.0183	-24	c.-76 others(33): Show c.-764_-741delAAAGAAAGAAAGAAAGAAAGAAAG		RP2	ENSG00000102218.6	transcript	ENST00000218340.4	protein_coding					706		chrX	TogoVar
RP2_chrX_46832043_46887358	46847744	ATGTGTGT others(17): Show ATGTGTGTGTGTATATACACACATG	A A	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	274	0.0037	-24	c.103 others(41): Show c.103-5722_103-5699delGTATATACACACATGTGTGTGTGT		RP2	ENSG00000102218.6	transcript	ENST00000218340.4	protein_coding	1/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
RPA3_chr7_7631518_7723607	7673310	TAGCAGCA others(17): Show TAGCAGCAGCAGCAGCAGCAGCAGC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02976.hp2 HG03486.hp1 others(1): Show HG02630.hp1 HG02976.hp2 HG03486.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0068 a0001c0001t0001g0107 a0001c0001t0001g0283 others(1): Show a0001c0001t0001g0068 a0001c0001t0001g0107 a0001c0001t0001g0283 a0001c0001t0002g0083	4	308	0.0130	-24	c.-75 others(45): Show c.-758+12496_-758+12519delGCTGCTGCTGCTGCTGCTGCTGCT		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
RPAP2_chr1_92294059_92407056	92309556	CACATACA others(17): Show CACATACACATACACATATACATAT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01081.hp2 HG01109.hp1 others(7): Show HG01069.hp2 HG01081.hp2 HG01109.hp1 HG01168.hp1 HG01884.hp1 HG02622.hp1 HG03130.hp1 HG03195.hp2 HG03540.hp1 HG03540.hp2	a0001 a0001	a0001c0005 a0001c0021 a0001c0044 others(1): Show a0001c0005 a0001c0021 a0001c0044 a0001c0045	a0001c0005t0021 a0001c0005t0022 a0001c0005t0023 others(5): Show a0001c0005t0021 a0001c0005t0022 a0001c0005t0023 a0001c0005t0071 a0001c0005t0073 a0001c0021t0022 a0001c0044t0057 a0001c0045t0054	a0001c0005t0021g0153 a0001c0005t0021g0154 a0001c0005t0022g0150 others(7): Show a0001c0005t0021g0153 a0001c0005t0021g0154 a0001c0005t0022g0150 a0001c0005t0023g0152 a0001c0005t0023g0156 a0001c0005t0071g0157 a0001c0005t0073g0155 a0001c0021t0022g0151 a0001c0044t0057g0159 a0001c0045t0054g0158	10	192	0.0521	-24	c.488 others(41): Show c.488+2298_488+2321delTACATATACATACACATACACATA		RPAP2	ENSG00000122484.9	transcript	ENST00000610020.2	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr1	TogoVar
RPAP2_chr1_92294059_92407056	92309574	TACATATA others(17): Show TACATATACATACACATACACATAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02630.hp2 others(15): Show HG02258.hp2 HG02280.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03209.hp2 HG03453.hp2 HG03516.hp1 HG06807.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0009 others(4): Show a0001c0004 a0001c0006 a0001c0009 a0001c0022 a0001c0023 a0001c0024 a0001c0025	a0001c0004t0008 a0001c0004t0053 a0001c0006t0005 others(6): Show a0001c0004t0008 a0001c0004t0053 a0001c0006t0005 a0001c0009t0007 a0001c0009t0024 a0001c0022t0005 a0001c0023t0005 a0001c0024t0007 a0001c0025t0008	a0001c0004t0008g0163 a0001c0004t0008g0168 a0001c0004t0008g0169 others(15): Show a0001c0004t0008g0163 a0001c0004t0008g0168 a0001c0004t0008g0169 a0001c0004t0053g0167 a0001c0006t0005g0178 a0001c0006t0005g0179 a0001c0006t0005g0180 a0001c0006t0005g0182 a0001c0006t0005g0183 a0001c0006t0005g0184 a0001c0009t0007g0172 a0001c0009t0007g0173 a0001c0009t0007g0175 a0001c0009t0024g0174 a0001c0022t0005g0177 a0001c0023t0005g0181 a0001c0024t0007g0176 a0001c0025t0008g0170	18	192	0.0938	-24	c.488 others(41): Show c.488+2304_488+2327delTACATACACATACACATACACATA		RPAP2	ENSG00000122484.9	transcript	ENST00000610020.2	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr1	TogoVar
RPGRIP1_chr14_21275083_21356301	21301701	TAATAATA others(17): Show TAATAATAATAATAATAATAATAAA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03516.hp2 HG03540.hp2 others(2): Show HG02976.hp1 HG03516.hp2 HG03540.hp2 HG06807.hp1 NA19043.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0001 a0003c0003t0002	a0003c0003t0001g0006 a0003c0003t0001g0186 a0003c0003t0001g0249 others(2): Show a0003c0003t0001g0006 a0003c0003t0001g0186 a0003c0003t0001g0249 a0003c0003t0002g0184 a0003c0003t0002g0185	5	332	0.0151	-24	c.490 others(39): Show c.490+467_490+490delTAATAATAATAATAATAATAAAAA		RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	4/24					INFO_REALIGN_3_PRIME	chr14	TogoVar
RPGRIP1_chr14_21275083_21356301	21304389	GAGAAAGA others(17): Show GAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	332	0.0030	-24	c.800 others(39): Show c.800+880_800+903delGAAAGAAAGAAAGAAAGAAAGAAA		RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	6/24					INFO_REALIGN_3_PRIME	chr14	TogoVar
RPGRIP1_chr14_21275083_21356301	21306112	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0174 a0006c0006t0001g0174	1	332	0.0030	-24	c.801 others(41): Show c.801-1605_801-1582delTTTTTTTTTTTTTTTTTTTTTTTT		RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	6/24					INFO_REALIGN_3_PRIME	chr14	TogoVar
RPGR_chrX_38279408_38332509	38286254	CTCCTCTT others(17): Show CTCCTCTTCTCCCTCCCCTTCTCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18989.hp1 NA19005.hp1 NA18989.hp1 NA19005.hp1	a0015 a0015	a0015c0017 a0015c0017	a0015c0017t0002 a0015c0017t0002	a0015c0017t0002g0081 a0015c0017t0002g0083 a0015c0017t0002g0081 a0015c0017t0002g0083	2	302	0.0066	-24	c.272 others(33): Show c.2721_2744delAGGAGAAGGGGAGGGAGAAGAGGA	p.Gly others(13): Show p.Gly908_Glu915del	RPGR	ENSG00000156313.15	transcript	ENST00000645032.1	protein_coding	15/15	2886/4733	2721/3459	907/1152			chrX	TogoVar
RPGR_chrX_38279408_38332509	38286440	TTCCTCCT others(17): Show TTCCTCCTCTTCCCCCTCCCCTTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03540.hp2 HG03540.hp2	a0022 a0022	a0022c0025 a0022c0025	a0022c0025t0012 a0022c0025t0012	a0022c0025t0012g0064 a0022c0025t0012g0064	1	302	0.0033	-24	c.253 others(33): Show c.2535_2558delGGAAGGGGAGGGGGAAGAGGAGGA	p.Glu others(13): Show p.Glu846_Glu853del	RPGR	ENSG00000156313.15	transcript	ENST00000645032.1	protein_coding	15/15	2700/4733	2535/3459	845/1152			chrX	TogoVar
RPGR_chrX_38279408_38332509	38286772	CCTCCTCT others(17): Show CCTCCTCTTCTTCTCCTTCTCCATG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00738.hp1 HG00738.hp1	a0026 a0026	a0026c0024 a0026c0024	a0026c0024t0002 a0026c0024t0002	a0026c0024t0002g0095 a0026c0024t0002g0095	1	302	0.0033	-24	c.220 others(33): Show c.2203_2226delCATGGAGAAGGAGAAGAAGAGGAG	p.His others(13): Show p.His735_Glu742del	RPGR	ENSG00000156313.15	transcript	ENST00000645032.1	protein_coding	15/15	2368/4733	2203/3459	735/1152			chrX	TogoVar
RPH3AL_chr17_207389_357807	232829	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0005 a0003c0012t0005	a0003c0012t0005g0020 a0003c0012t0005g0020	1	133	0.0075	-24	c.614 others(43): Show c.614-13117_614-13094delACACACACACACACACACACACAC		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	287581	TCTCTCCA others(17): Show TCTCTCCACCGTCAGACCTCACACC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	133	0.0075	-24	c.352 others(41): Show c.352-5751_352-5728delGGTGTGAGGTCTGACGGTGGAGAG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	288115	TCTCTCCA others(17): Show TCTCTCCACCGTCAGACCTCACTCC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	133	0.0075	-24	c.352 others(41): Show c.352-6285_352-6262delGGAGTGAGGTCTGACGGTGGAGAG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	288167	TCTCTCCA others(17): Show TCTCTCCACCGTCAGACCTCGCACC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0129 a0001c0001t0010g0129	1	133	0.0075	-24	c.352 others(41): Show c.352-6337_352-6314delGGTGCGAGGTCTGACGGTGGAGAG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	294866	ACAGAGAT others(17): Show ACAGAGATGCTGCAGAAATGGACAG	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0084	1	133	0.0075	-24	c.352 others(43): Show c.352-13036_352-13013delCTGTCCATTTCTGCAGCATCTCTG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
RPIA_chr2_88686673_88755929	88727100	CGCGCATG others(17): Show CGCGCATGTGTGCGCGTGCATGTGT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0261 a0001c0001t0002g0261	1	368	0.0027	-24	c.403 others(41): Show c.403-2170_403-2147delTGTGCGCGTGCATGTGTGCGCATG		RPIA	ENSG00000153574.9	transcript	ENST00000283646.5	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
RPL26_chr17_8372516_8388193	8384050	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01256.hp2 HG01258.hp1 others(10): Show HG00733.hp2 HG01256.hp2 HG01258.hp1 HG01884.hp2 HG01952.hp1 HG02055.hp2 HG02258.hp2 HG02723.hp2 HG02809.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0049	13	422	0.0308	-24	c.-92 others(33): Show c.-923_-900delACACACACACACACACACACACAC		RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding					858		chr17	TogoVar
RPL41_chr12_56111633_56122967	56116166	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	352	0.0028	-24	c.-62 others(33): Show c.-621_-598delAAAGAAAGAAAGAAAGAAAGAAAG		RPL41	ENSG00000229117.9	transcript	ENST00000546591.6	protein_coding					466		chr12	TogoVar
RPRD2_chr1_150359147_150481566	150387566	CCTTTTTT others(17): Show CCTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01192.hp1 HG01361.hp1 HG01081.hp2 HG01192.hp1 HG01361.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0004 a0005c0007t0004 a0001c0001t0004 a0005c0007t0004	a0001c0001t0004g0299 a0005c0007t0004g0297 a0005c0007t0004g0298 a0001c0001t0004g0299 a0005c0007t0004g0297 a0005c0007t0004g0298	3	318	0.0094	-24	c.205 others(43): Show c.205+22648_205+22671delCTTTTTTTTTTTTTTTTTTTTTTT		RPRD2	ENSG00000163125.16	transcript	ENST00000369068.5	protein_coding	1/10						chr1	TogoVar
RPRD2_chr1_150359147_150481566	150387567	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp1 HG02622.hp1 others(10): Show HG02451.hp1 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02895.hp1 HG02965.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03471.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0017 a0001c0001t0045 a0001c0001t0007 a0001c0001t0017 a0001c0001t0045	a0001c0001t0007g0194 a0001c0001t0007g0197 a0001c0001t0007g0198 others(10): Show a0001c0001t0007g0194 a0001c0001t0007g0197 a0001c0001t0007g0198 a0001c0001t0007g0200 a0001c0001t0007g0202 a0001c0001t0007g0203 a0001c0001t0007g0204 a0001c0001t0007g0205 a0001c0001t0017g0195 a0001c0001t0017g0196 a0001c0001t0017g0199 a0001c0001t0017g0201 a0001c0001t0045g0206	13	318	0.0409	-24	c.205 others(43): Show c.205+22666_205+22689delTTTTTTTTTTTTTTTTTTTTTTTT		RPRD2	ENSG00000163125.16	transcript	ENST00000369068.5	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS27L_chr15_63143249_63162477	63160254	CAATAAAT others(17): Show CAATAAATAAATAAATAAATAAATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	430	0.0023	-24	c.-28 others(35): Show c.-2873_-2850delTATTTATTTATTTATTTATTTATT		RPS27L	ENSG00000185088.14	transcript	ENST00000330964.10	protein_coding					2778		chr15	TogoVar
RPS2_chr16_1957058_1969826	1967096	GGGGTGGG others(17): Show GGGGTGGGGGGCCCTAACCCCCACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	438	0.0023	-24	c.-23 others(35): Show c.-2317_-2294delTGTGGGGGTTAGGGCCCCCCACCC		RPS2	ENSG00000140988.16	transcript	ENST00000343262.9	protein_coding					2271		chr16	TogoVar
RPS3A_chr4_151094628_151109642	151099449	GCCCGCGG others(17): Show GCCCGCGGCATGCCGCGCGGCCTCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	390	0.0026	-24	c.-20 others(33): Show c.-203_-180delCCCGCGGCATGCCGCGCGGCCTCC		RPS3A	ENSG00000145425.10	transcript	ENST00000274065.9	protein_coding					178		chr4	TogoVar
RPS6KA2_chr6_166404364_166632251	166449850	AGGACCAC others(17): Show AGGACCACCATGGGAACCACCACGC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG01257.hp1 others(31): Show HG00408.hp1 HG00558.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01978.hp2 HG02040.hp1 HG02074.hp1 HG02080.hp2 HG02132.hp2 HG02273.hp2 HG02293.hp1 HG03942.hp2 NA18946.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp1 NA18990.hp1 NA19007.hp1 NA19056.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0011 a0001c0026 a0001c0040	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0012 a0001c0001t0047 a0001c0002t0002 a0001c0002t0009 a0001c0002t0013 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0001c0007t0011 a0001c0011t0003 a0001c0026t0002 a0001c0040t0001	a0001c0001t0001g0204 a0001c0001t0003g0078 a0001c0001t0003g0079 others(31): Show a0001c0001t0001g0204 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0104 a0001c0001t0003g0217 a0001c0001t0011g0017 a0001c0001t0012g0009 a0001c0001t0012g0013 a0001c0001t0047g0231 a0001c0002t0002g0067 a0001c0002t0002g0091 a0001c0002t0002g0103 a0001c0002t0002g0105 a0001c0002t0002g0110 a0001c0002t0002g0165 a0001c0002t0002g0175 a0001c0002t0002g0202 a0001c0002t0002g0207 a0001c0002t0002g0209 a0001c0002t0009g0173 a0001c0002t0013g0010 a0001c0002t0013g0016 a0001c0003t0001g0030 a0001c0003t0001g0033 a0001c0003t0001g0039 a0001c0003t0001g0042 a0001c0003t0001g0063 a0001c0003t0003g0028 a0001c0003t0003g0031 a0001c0004t0001g0135 a0001c0007t0011g0011 a0001c0011t0003g0208 a0001c0026t0002g0206 a0001c0040t0001g0024	34	244	0.1393	-24	c.120 others(43): Show c.1207-1025_1207-1002delGCGTGGTGGTTCCCATGGTGGTCC		RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	13/20						chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166450308	TAGGGACC others(17): Show TAGGGACCACCAGGGGGACCACCAC	T T	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0036 a0001c0012t0002g0036	1	244	0.0041	-24	c.120 others(41): Show c.1206+771_1206+794delGTGGTGGTCCCCCTGGTGGTCCCT		RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	13/20						chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166510554	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01257.hp1 HG01258.hp1 others(12): Show HG01175.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01952.hp1 HG01975.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 NA19030.hp2 NA19060.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0026 a0001c0027 a0001c0055 a0001c0060	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0002t0002 a0001c0004t0001 a0001c0005t0001 a0001c0007t0033 a0001c0026t0002 a0001c0027t0002 a0001c0055t0007 a0001c0060t0016	a0001c0001t0001g0141 a0001c0001t0003g0078 a0001c0001t0003g0079 others(12): Show a0001c0001t0001g0141 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0104 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0011g0015 a0001c0002t0002g0105 a0001c0004t0001g0205 a0001c0005t0001g0162 a0001c0007t0033g0210 a0001c0026t0002g0206 a0001c0027t0002g0166 a0001c0055t0007g0080 a0001c0060t0016g0200	15	244	0.0615	-24	c.299 others(39): Show c.299-221_299-198delATATATATATATATATATATATAT		RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	3/20						chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166568621	GAAAAAAA others(17): Show GAAAAAAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0214 a0001c0001t0003g0214	1	244	0.0041	-24	c.100 others(43): Show c.100-29861_100-29838delTTTTTTTTTTTTTTTTTTTTTTTT		RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	1/20						chr6	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)