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	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
ABCA1_chr9_104776006_104933155	104862666	GGCCGGGC others(39): Show GGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGCCCCCACCCCC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0005 a0005	a0005c0036 a0005c0036	a0005c0036t0001 a0005c0036t0001	a0005c0036t0001g0091 a0005c0036t0001g0091	1	318	0.0031	-46	c.422 others(61): Show c.422-912_422-867delGGGGGTGGGGGCCGGCCCGGCCCGGCCCGG CCCGGCCCGGCCCGGC		ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49						chr9	TogoVar
ABCA1_chr9_104776006_104933155	104874750	AGCCAGCC others(39): Show AGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGCAGCCCCCGCCCG	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG04199.hp1 HG02698.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0238 a0001c0001t0004g0193 a0001c0001t0001g0238 a0001c0001t0004g0193	2	318	0.0063	-46	c.421 others(63): Show c.421+8243_421+8288delCGGGCGGGGGCTGCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGC		ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49						chr9	TogoVar
ABCA1_chr9_104776006_104933155	104874804	GCCCCGTC others(39): Show GCCCCGTCCGGGAGGGAGGTGGGGGCCAGCCCCCGCCCGGCCAGCCA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19091.hp1 HG02572.hp1 NA19091.hp1	a0003 a0022 a0003 a0022	a0003c0002 a0022c0050 a0003c0002 a0022c0050	a0003c0002t0002 a0022c0050t0001 a0003c0002t0002 a0022c0050t0001	a0003c0002t0002g0257 a0022c0050t0001g0166 a0003c0002t0002g0257 a0022c0050t0001g0166	2	318	0.0063	-46	c.421 others(63): Show c.421+8189_421+8234delTGGCTGGCCGGGCGGGGGCTGGCCCCCA CCTCCCTCCCGGACGGGG		ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49						chr9	TogoVar
ABCA1_chr9_104776006_104933155	104874850	ACCCCGTC others(39): Show ACCCCGTCCGGGAGGGAGGTGGGGGGCAGCCCCCGCCCGGCCAGCCG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02257.hp2 HG02451.hp1 others(3): Show HG01255.hp2 HG02257.hp2 HG02451.hp1 HG02647.hp1 HG02965.hp2 HG03540.hp2	a0002 a0003 a0011 others(1): Show a0002 a0003 a0011 a0038	a0002c0017 a0002c0025 a0002c0032 others(3): Show a0002c0017 a0002c0025 a0002c0032 a0003c0056 a0011c0010 a0038c0068	a0002c0017t0026 a0002c0025t0015 a0002c0032t0001 others(3): Show a0002c0017t0026 a0002c0025t0015 a0002c0032t0001 a0003c0056t0001 a0011c0010t0005 a0038c0068t0044	a0002c0017t0026g0276 a0002c0025t0015g0283 a0002c0032t0001g0025 others(3): Show a0002c0017t0026g0276 a0002c0025t0015g0283 a0002c0032t0001g0025 a0003c0056t0001g0288 a0011c0010t0005g0097 a0038c0068t0044g0272	6	318	0.0189	-46	c.421 others(63): Show c.421+8143_421+8188delCGGCTGGCCGGGCGGGGGCTGCCCCCCA CCTCCCTCCCGGACGGGG		ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49						chr9	TogoVar
ABCC4_chr13_95014835_95306451	95029199	TATATATA others(39): Show TATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0008 a0001c0011t0008	a0001c0011t0008g0244 a0001c0011t0008g0244	1	248	0.0040	-46	c.387 others(65): Show c.3870+5360_3870+5405delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTATATATATATATAT		ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30						chr13	TogoVar
ABCC9_chr12_21792389_21946426	21863282	AAGTTTGG others(39): Show AAGTTTGGTTTTCTACACTGAAGAAGTGTTTTATGGTCTAAACAACT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(118): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03704.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18947.hp2 NA18952.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18977.hp2 NA18978.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18988.hp1 NA18992.hp2 NA19009.hp2 NA19043.hp1 NA19060.hp1 NA19063.hp2 NA19065.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0002c0007 a0003c0012 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0002t0001 a0001c0002t0004 a0001c0002t0012 a0001c0003t0007 a0001c0003t0009 a0001c0004t0001 a0001c0006t0001 a0001c0009t0001 a0002c0007t0001 a0003c0012t0001 a0004c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(117): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0002g0033 a0001c0001t0002g0078 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0202 a0001c0001t0002g0208 a0001c0001t0003g0095 a0001c0001t0003g0105 a0001c0001t0003g0141 a0001c0001t0003g0147 a0001c0001t0003g0158 a0001c0001t0004g0199 a0001c0001t0005g0175 a0001c0001t0006g0142 a0001c0001t0009g0129 a0001c0001t0014g0071 a0001c0001t0015g0170 a0001c0001t0017g0143 a0001c0001t0018g0003 a0001c0001t0019g0196 a0001c0001t0021g0122 a0001c0002t0001g0184 a0001c0002t0004g0183 a0001c0002t0012g0002 a0001c0003t0007g0180 a0001c0003t0007g0204 a0001c0003t0009g0209 a0001c0004t0001g0104 a0001c0004t0001g0119 a0001c0004t0001g0135 a0001c0006t0001g0042 a0001c0009t0001g0101 a0002c0007t0001g0039 a0002c0007t0001g0049 a0003c0012t0001g0195 a0004c0011t0001g0149	121	212	0.5708	-46	c.223 others(63): Show c.2238-274_2238-229delAGTTGTTTAGACCATAAAACACTTCTTC AGTGTAGAAAACCAAACT		ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	19/39						chr12	TogoVar
ABCG1_chr21_42214140_42302244	42284871	ACAGCCTT others(39): Show ACAGCCTTCTGTTACCTCGTGGGATGTCTTCATGACATCAAACCCTG	A A	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	354	0.0028	-46	c.858 others(61): Show c.858+189_858+234delCAGCCTTCTGTTACCTCGTGGGATGTCTTC ATGACATCAAACCCTG		ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	7/14						chr21	TogoVar
ABI2_chr2_203323394_203437169	203338926	GTGTATAT others(39): Show GTGTATATGTATATATATATATATATATATATATATAAATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00438.hp2 others(32): Show HG00280.hp1 HG00323.hp2 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG01256.hp1 HG01258.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG02080.hp2 HG02083.hp2 HG02698.hp2 HG03139.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp2 NA18945.hp1 NA18949.hp1 NA18961.hp2 NA18970.hp2 NA18982.hp2 NA18986.hp1 NA18993.hp2 NA18999.hp2 NA19057.hp2 NA19066.hp2 NA19077.hp2 NA19083.hp2 NA19084.hp1 NA19088.hp2 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 a0001c0001t0001 a0001c0001t0004 a0001c0001t0017	a0001c0001t0001g0201 a0001c0001t0001g0212 a0001c0001t0001g0213 others(32): Show a0001c0001t0001g0201 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0284 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0004g0217 a0001c0001t0017g0252	35	320	0.1094	-46	c.117 others(65): Show c.117+10297_117+10342delGTATATGTATATATATATATATATAT ATATATATAAATATATATAT		ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203338928	GTATATGT others(39): Show GTATATGTATATATATATATATATATATATATATAAATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04228.hp1 NA18995.hp2 HG04115.hp1 HG04228.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0298 a0001c0001t0001g0314 a0001c0001t0001g0278 a0001c0001t0001g0298 a0001c0001t0001g0314	3	320	0.0094	-46	c.117 others(65): Show c.117+10303_117+10348delGTATATATATATATATATATATATAT ATAAATATATATATATATAT		ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI3BP_chr3_100744156_100998421	100830102	CATACATA others(39): Show CATACATACATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0142 a0002c0002t0010g0142	1	238	0.0042	-46	c.245 others(63): Show c.2458+430_2459-439delATATATATATATATATATATATATATAT ATATATATATGTATGTAT		ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	32/67						chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100830106	CATACATA others(39): Show CATACATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(18): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00642.hp1 HG01106.hp2 HG01192.hp2 HG01258.hp1 HG01346.hp2 HG01981.hp2 HG02004.hp2 HG02698.hp1 HG03669.hp1 HG03831.hp1 HG03942.hp2 HG04228.hp1 NA18947.hp1 NA18948.hp1 NA18962.hp2 NA18967.hp2 NA19081.hp1	a0004 a0006 a0026 others(2): Show a0004 a0006 a0026 a0028 a0030	a0004c0007 a0004c0015 a0004c0049 others(5): Show a0004c0007 a0004c0015 a0004c0049 a0006c0018 a0006c0025 a0026c0060 a0028c0063 a0030c0052	a0004c0007t0001 a0004c0007t0004 a0004c0007t0038 others(9): Show a0004c0007t0001 a0004c0007t0004 a0004c0007t0038 a0004c0015t0001 a0004c0049t0001 a0006c0018t0004 a0006c0018t0039 a0006c0025t0001 a0006c0025t0035 a0026c0060t0023 a0028c0063t0001 a0030c0052t0001	a0004c0007t0001g0073 a0004c0007t0001g0089 a0004c0007t0001g0094 others(18): Show a0004c0007t0001g0073 a0004c0007t0001g0089 a0004c0007t0001g0094 a0004c0007t0001g0108 a0004c0007t0001g0113 a0004c0007t0004g0182 a0004c0007t0004g0238 a0004c0007t0038g0236 a0004c0015t0001g0037 a0004c0015t0001g0043 a0004c0015t0001g0123 a0004c0015t0001g0126 a0004c0049t0001g0120 a0006c0018t0004g0213 a0006c0018t0004g0223 a0006c0018t0039g0200 a0006c0025t0001g0127 a0006c0025t0035g0190 a0026c0060t0023g0039 a0028c0063t0001g0020 a0030c0052t0001g0035	21	238	0.0882	-46	c.245 others(63): Show c.2458+426_2459-443delATATATATATATATATATATATATATAT ATATATATATATATGTAT		ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	32/67						chr3	TogoVar
ABLIM1_chr10_114426112_114663275	114583444	CACACACA others(39): Show CACACACACACACACACACACACACATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03579.hp2 HG02976.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0004 a0001c0001t0023g0006 a0001c0001t0023g0004 a0001c0001t0023g0006	2	256	0.0078	-46	c.380 others(63): Show c.380-7891_380-7846delATATATATATATATATATATATGTGTGT GTGTGTGTGTGTGTGTGT		ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22						chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583446	CACACACA others(39): Show CACACACACACACACACACACACATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01517.hp2 HG00280.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0142 a0001c0001t0154 a0001c0001t0142 a0001c0001t0154	a0001c0001t0142g0108 a0001c0001t0154g0069 a0001c0001t0142g0108 a0001c0001t0154g0069	2	256	0.0078	-46	c.380 others(63): Show c.380-7893_380-7848delATATATATATATATATATATATATGTGT GTGTGTGTGTGTGTGTGT		ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22						chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583450	CACACACA others(39): Show CACACACACACACACACACATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0108 a0001c0001t0108	a0001c0001t0108g0174 a0001c0001t0108g0174	1	256	0.0039	-46	c.380 others(63): Show c.380-7897_380-7852delATATATATATATATATATATATATATAT GTGTGTGTGTGTGTGTGT		ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22						chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583452	CACACACA others(39): Show CACACACACACACACACATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0111 a0001c0001t0111	a0001c0001t0111g0150 a0001c0001t0111g0150	1	256	0.0039	-46	c.380 others(63): Show c.380-7899_380-7854delATATATATATATATATATATATATATAT ATGTGTGTGTGTGTGTGT		ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22						chr10	TogoVar
ABR_chr17_998519_1184981	1131712	CCTTTGCA others(39): Show CCTTTGCACACCAAATGCAGTGCCTGCCACGCGCAGAGCTCCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18945.hp2 NA18950.hp1 others(2): Show HG02074.hp1 NA18945.hp2 NA18950.hp1 NA18995.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0010 a0001c0001t0032 others(1): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0032 a0001c0007t0003	a0001c0001t0002g0152 a0001c0001t0010g0260 a0001c0001t0010g0261 others(2): Show a0001c0001t0002g0152 a0001c0001t0010g0260 a0001c0001t0010g0261 a0001c0001t0032g0259 a0001c0007t0003g0140	5	337	0.0148	-46	c.62- others(61): Show c.62-6391_62-6346delAGGGGGGAGCTCTGCGCGTGGCAGGCACTG CATTTGGTGTGCAAAG		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22						chr17	TogoVar
ABTB3_chr12_107313434_107664642	107469896	TTCTTTCT others(39): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02809.hp2 HG03486.hp1 others(4): Show HG02056.hp1 HG02809.hp2 HG03486.hp1 HG03540.hp1 NA18522.hp1 NA18979.hp1 NA18982.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0018	a0001c0001 a0002c0002 a0004c0005 others(1): Show a0001c0001 a0002c0002 a0004c0005 a0018c0027	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0002t0038 a0004c0005t0013 a0018c0027t0001	a0001c0001t0001g0058 a0001c0001t0003g0015 a0002c0002t0001g0109 others(4): Show a0001c0001t0001g0058 a0001c0001t0003g0015 a0002c0002t0001g0109 a0002c0002t0001g0124 a0002c0002t0038g0184 a0004c0005t0013g0018 a0018c0027t0001g0045	7	186	0.0376	-46	c.113 others(67): Show c.1136-50563_1136-50518delCTCTCTCTCTCTTTCTTTCTCTTT CTTTCTTTCTTTCTTTCTTTCT		ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107469944	CTTTCTTT others(39): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	186	0.0054	-46	c.113 others(67): Show c.1136-50541_1136-50496delTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTT		ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
ACADS_chr12_120720826_120745008	120732231	ACCTCCCG others(39): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGACCCCCACCTC	A A	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03225.hp2 HG02523.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0253 a0001c0002t0001g0164 a0001c0001t0001g0253 a0001c0002t0001g0164	2	426	0.0047	-46	c.211 others(63): Show c.211-4719_211-4674delACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGCTG		ACADS	ENSG00000122971.9	transcript	ENST00000242592.9	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAP3_chr1_1287391_1312930	1297076	TGGGGCAG others(39): Show TGGGGCAGGGGCCATCCCCAGTGGCACGTAGGTGTGTGCACCGGCAC	T T	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	295	0.0034	-46	c.112 others(63): Show c.1129-489_1129-444delGTGCCGGTGCACACACCTACGTGCCACT GGGGATGGCCCCTGCCCC		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding	14/23						chr1	TogoVar
ACAP3_chr1_1287391_1312930	1297393	ACGGGGCA others(39): Show ACGGGGCAGGGGCCATCCCCAGTGGCACGTGTGTGTGTGCACAGGCG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp2 HG02258.hp2 others(23): Show HG01109.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp1 NA19030.hp1 NA19043.hp2 NA21309.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0024 a0008c0008 a0001c0001 a0001c0024 a0008c0008	a0001c0001t0001 a0001c0001t0011 a0001c0024t0006 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0024t0006 a0008c0008t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0019 others(15): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0042 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0214 a0001c0001t0011g0074 a0001c0024t0006g0072 a0008c0008t0001g0035	26	295	0.0881	-46	c.112 others(63): Show c.1128+383_1128+428delCGCCTGTGCACACACACACGTGCCACTG GGGATGGCCCCTGCCCCG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding	14/23						chr1	TogoVar
ACAP3_chr1_1287391_1312930	1297639	AGTGGCAC others(39): Show AGTGGCACGTGTGTGTGTGCACAGGCGCGGGGCAGGGGCCATCCCCG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp2 HG02922.hp1 others(1): Show HG02257.hp2 HG02451.hp2 HG02922.hp1 HG03579.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0008 a0001c0001 a0008c0008	a0001c0001t0001 a0008c0008t0001 a0001c0001t0001 a0008c0008t0001	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 others(1): Show a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0008c0008t0001g0035	4	295	0.0136	-46	c.112 others(63): Show c.1128+137_1128+182delCGGGGATGGCCCCTGCCCCGCGCCTGTG CACACACACACGTGCCAC		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding	14/23						chr1	TogoVar
ACMSD_chr2_134833616_134907034	134885285	TTATATTT others(39): Show TTATATTTATATATATATTTAAATATATATATATAAATATATATGTA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	382	0.0026	-46	c.849 others(65): Show c.849+12645_849+12690delTATATTTATATATATATTTAAATATA TATATATAAATATATATGTA		ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	8/9						chr2	TogoVar
ACOT11_chr1_54543228_54615329	54601070	TATGTGAG others(39): Show TATGTGAGTGTGTGTGTGCATACATGTGTGTGTATGTGTGTGCATAC	T T	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18990.hp1 NA19088.hp2 NA18952.hp1 NA18990.hp1 NA19088.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0325 a0003c0003t0005g0326 a0003c0003t0005g0327 a0003c0003t0005g0325 a0003c0003t0005g0326 a0003c0003t0005g0327	3	388	0.0077	-46	c.885 others(61): Show c.885-193_885-148delAGTGTGTGTGTGCATACATGTGTGTGTATG TGTGTGCATACATGTG		ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOX1_chr17_75936507_75984166	75956933	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATA	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0343 a0001c0001t0076g0343	1	344	0.0029	-46	c.538 others(61): Show c.538+480_538+525delTATATATAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGA		ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13						chr17	TogoVar
ACSF3_chr16_89088852_89161233	89160341	CCCCGAAG others(39): Show CCCCGAAGACCCCCCGCTTCCTCACCCGAAGACCCCCCGCTTCCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02559.hp2 HG02717.hp2 others(1): Show HG02055.hp1 HG02559.hp2 HG02717.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0016 a0002c0002t0008 a0002c0003t0052 a0001c0001t0016 a0002c0002t0008 a0002c0003t0052	a0001c0001t0016g0241 a0001c0001t0016g0242 a0002c0002t0008g0236 others(1): Show a0001c0001t0016g0241 a0001c0001t0016g0242 a0002c0002t0008g0236 a0002c0003t0052g0240	4	368	0.0109	-46	c.61 others(57): Show c.6135_*6180delCCCGAAGACCCCCCGCTTCCTCACCCGAAGACCC CCCGCTTCCTCA		ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding					4109		chr16	TogoVar
ACTG2_chr2_73888008_73924865	73901541	TGTGTGTG others(39): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01168.hp2 HG02055.hp1 others(8): Show HG00673.hp2 HG01168.hp2 HG02055.hp1 HG02132.hp2 HG02155.hp2 HG02615.hp2 HG02630.hp2 HG03130.hp1 HG03195.hp2 HG06807.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0149 a0001c0001t0001g0197 a0001c0001t0001g0216 others(8): Show a0001c0001t0001g0149 a0001c0001t0001g0197 a0001c0001t0001g0216 a0001c0001t0003g0261 a0001c0001t0005g0373 a0001c0001t0005g0381 a0001c0001t0005g0382 a0001c0001t0005g0383 a0001c0002t0002g0045 a0001c0002t0003g0173 a0001c0002t0003g0176	11	416	0.0264	-46	c.126 others(61): Show c.126+123_126+168delGTGTGTGTGTGTGTGTGTGTGTCTGTGCGT GTGTGTGTGTGTGTGT		ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTN2_chr1_236681499_236769631	236755852	ACTGTTAG others(39): Show ACTGTTAGAACCGTGGTTATAGAGTATATACTGCAGAGTGCCCGCTG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01168.hp2 HG01169.hp2 others(18): Show HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01258.hp1 HG01516.hp2 HG02451.hp2 HG02717.hp1 HG02717.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03579.hp1 HG04204.hp1 HG06807.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0015	a0001c0001t0012 a0001c0003t0020 a0001c0004t0002 others(2): Show a0001c0001t0012 a0001c0003t0020 a0001c0004t0002 a0001c0004t0005 a0001c0015t0016	a0001c0001t0012g0019 a0001c0001t0012g0109 a0001c0001t0012g0337 others(18): Show a0001c0001t0012g0019 a0001c0001t0012g0109 a0001c0001t0012g0337 a0001c0003t0020g0122 a0001c0004t0002g0064 a0001c0004t0005g0056 a0001c0004t0005g0057 a0001c0004t0005g0060 a0001c0004t0005g0061 a0001c0004t0005g0063 a0001c0004t0005g0065 a0001c0004t0005g0077 a0001c0004t0005g0081 a0001c0004t0005g0120 a0001c0004t0005g0163 a0001c0004t0005g0177 a0001c0004t0005g0197 a0001c0004t0005g0198 a0001c0004t0005g0199 a0001c0015t0016g0113 a0001c0015t0016g0115	21	344	0.0611	-46	c.215 others(63): Show c.2154+656_2154+701delTGTTAGAACCGTGGTTATAGAGTATATA CTGCAGAGTGCCCGCTGC		ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
ACVR2B_chr3_38448890_38498142	38492759	CACACACA others(39): Show CACACACACACACACACACACACACACACACACACACACACACACAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp2 NA19081.hp1 HG00438.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0116 a0001c0001t0148 a0001c0001t0116 a0001c0001t0148	a0001c0001t0116g0029 a0001c0001t0148g0029 a0001c0001t0116g0029 a0001c0001t0148g0029	2	410	0.0049	-46	c.94 others(57): Show c.9432_*9477delACACACACACACACACACACACACACACACACAC ACACACATACAC		ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	11/11				9432	INFO_REALIGN_3_PRIME	chr3	TogoVar
ACYP2_chr2_53966113_54310300	54197916	TATTTTAT others(39): Show TATTTTATTTTATTTATGTATGTATTATATTGTATTGTATTGTATTG	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02647.hp2 HG02717.hp1 others(4): Show HG00544.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp1 HG02922.hp2 HG03516.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0016 a0001c0001t0001 a0001c0002t0002 a0001c0002t0016	a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0134 others(4): Show a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0218 a0001c0002t0002g0050 a0001c0002t0002g0089 a0001c0002t0016g0055	7	272	0.0257	-46	c.404 others(65): Show c.404+59169_404+59214delATTTTATTTTATTTATGTATGTATTA TATTGTATTGTATTGTATTG		ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6						chr2	TogoVar
ADAMTS19_chr5_129455298_129743683	129549872	GTATATAT others(39): Show GTATATATGTATCTATATATACATATACATGTATCCGTATATGTATA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03942.hp2 homoSapiens_chm13v2.hp1 HG01123.hp2 HG03942.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0182 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0182	3	226	0.0133	-46	c.132 others(65): Show c.1329-1988_1329-1943delATATGTATCTATATATACATATACAT GTATCCGTATATGTATATAT		ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	6/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277859	CCCCCCCT others(39): Show CCCCCCCTGAGACCAAAGGCTGACCCCCCTGCGAGACCAAAGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0019 a0019	a0019c0084 a0019c0084	a0019c0084t0008 a0019c0084t0008	a0019c0084t0008g0198 a0019c0084t0008g0198	1	276	0.0036	-46	c.535 others(63): Show c.535-4841_535-4796delTCAGCCTTTGGTCTCGCAGGGGGGTCAG CCTTTGGTCTCAGGGGGG		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21						chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277883	CCCCCTGC others(39): Show CCCCCTGCGAGACCAAAGGCTGACCCCCCCCCGAGACCAAAGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02083.hp1 HG02486.hp1 others(6): Show HG01167.hp1 HG02083.hp1 HG02486.hp1 HG03491.hp1 NA18747.hp1 NA19064.hp1 NA19064.hp2 NA19070.hp2 NA19074.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0007 a0011 a0017 a0034	a0001c0064 a0002c0002 a0003c0003 others(5): Show a0001c0064 a0002c0002 a0003c0003 a0004c0006 a0007c0005 a0011c0020 a0017c0027 a0034c0066	a0001c0064t0001 a0002c0002t0001 a0003c0003t0002 others(5): Show a0001c0064t0001 a0002c0002t0001 a0003c0003t0002 a0004c0006t0004 a0007c0005t0003 a0011c0020t0003 a0017c0027t0004 a0034c0066t0004	a0001c0064t0001g0057 a0002c0002t0001g0113 a0002c0002t0001g0114 others(6): Show a0001c0064t0001g0057 a0002c0002t0001g0113 a0002c0002t0001g0114 a0003c0003t0002g0237 a0004c0006t0004g0270 a0007c0005t0003g0222 a0011c0020t0003g0047 a0017c0027t0004g0098 a0034c0066t0004g0099	9	276	0.0326	-46	c.535 others(63): Show c.535-4865_535-4820delTCAGCCTTTGGTCTCGGGGGGGGGTCAG CCTTTGGTCTCGCAGGGG		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21						chr5	TogoVar
ADARB2_chr10_1172313_1742525	1238895	CCCTGCAT others(39): Show CCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCTCTGGCGATACT	C C	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA19043.hp2 NA18945.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0003 a0002c0004t0005 a0001c0001t0003 a0002c0004t0005	a0001c0001t0003g0102 a0002c0004t0005g0029 a0001c0001t0003g0102 a0002c0004t0005g0029	2	106	0.0189	-46	c.136 others(65): Show c.1361+3190_1361+3235delAGTATCGCCAGAGGGAGGGAGAGGGG AGTAAACACCGGGATGCAGG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1280553	AAGTGATG others(39): Show AAGTGATGCTCCGTGAAATTCCTAAGTGACGCTCCGTGAAATTCCTG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03209.hp2 HG01243.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0019 a0001c0003t0060 a0001c0001t0019 a0001c0003t0060	a0001c0001t0019g0038 a0001c0003t0060g0104 a0001c0001t0019g0038 a0001c0003t0060g0104	2	106	0.0189	-46	c.107 others(65): Show c.1078-9530_1078-9485delCAGGAATTTCACGGAGCGTCACTTAG GAATTTCACGGAGCATCACT		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1438516	TCCTTCAT others(39): Show TCCTTCATGATGGGGCTCCTGAGTCTCCTCAGCAGATGGAGGCAGGC	T T	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02602.hp2 NA18998.hp2 HG02080.hp1 HG02602.hp2 NA18998.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0056 a0002c0002t0004 a0002c0002t0041 a0001c0001t0056 a0002c0002t0004 a0002c0002t0041	a0001c0001t0056g0081 a0002c0002t0004g0101 a0002c0002t0041g0074 a0001c0001t0056g0081 a0002c0002t0004g0101 a0002c0002t0041g0074	3	106	0.0283	-46	c.101 others(65): Show c.101-59402_101-59357delGCCTGCCTCCATCTGCTGAGGAGACT CAGGAGCCCCATCATGAAGG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADAT2_chr6_143417832_143455695	143450283	GAGGCAGC others(39): Show GAGGCAGCACGTGCCAGCCGGCGACAGAATGTTAAGTCTGCAGCATA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0101 a0001c0001t0101	a0001c0001t0101g0037 a0001c0001t0101g0037	1	322	0.0031	-46	c.96+ others(59): Show c.96+234_96+279delTATGCTGCAGACTTAACATTCTGTCGCCGGCT GGCACGTGCTGCCT		ADAT2	ENSG00000189007.16	transcript	ENST00000237283.9	protein_coding	1/5						chr6	TogoVar
ADGRB1_chr8_142444649_142550007	142483180	ACACTGAG others(39): Show ACACTGAGCCCTGACCCTGGTCACACACTGAGCCCTGACCCTGGTCG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03098.hp2 HG02622.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0001 a0001c0001t0003 a0001c0003t0001	a0001c0001t0003g0242 a0001c0003t0001g0241 a0001c0001t0003g0242 a0001c0003t0001g0241	2	310	0.0065	-46	c.213 others(63): Show c.2131-759_2131-714delCCCTGGTCGCACTGAGCCCTGACCCTGG TCACACACTGAGCCCTGA		ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	11/30					INFO_REALIGN_3_PRIME	chr8	TogoVar
ADGRB1_chr8_142444649_142550007	142500220	CCGCGCCG others(39): Show CCGCGCCGCTCCTCCACCTCCCCACGCGCCGCTCCTCCACCTCCCCA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(71): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02735.hp1 HG03490.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 NA18522.hp1 NA18943.hp1 NA18945.hp1 NA18952.hp1 NA18952.hp2 NA18961.hp2 NA18962.hp1 NA18971.hp1 NA18974.hp1 NA18975.hp2 NA18999.hp2 NA19012.hp1 NA19063.hp1 NA19081.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0010 a0001 a0006 a0010	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0011 a0001c0015 a0001c0016 a0006c0022 a0010c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 a0001c0011t0002 a0001c0015t0004 a0001c0016t0001 a0006c0022t0002 a0010c0023t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0023 others(68): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0058 a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0100 a0001c0001t0001g0109 a0001c0001t0001g0119 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0206 a0001c0001t0001g0212 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0300 a0001c0001t0002g0122 a0001c0001t0002g0127 a0001c0001t0002g0134 a0001c0001t0002g0145 a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0002g0185 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0279 a0001c0001t0006g0003 a0001c0002t0002g0028 a0001c0002t0002g0115 a0001c0002t0002g0117 a0001c0002t0002g0126 a0001c0002t0002g0128 a0001c0002t0002g0172 a0001c0002t0002g0218 a0001c0003t0001g0097 a0001c0004t0001g0091 a0001c0004t0001g0161 a0001c0004t0001g0209 a0001c0004t0001g0210 a0001c0004t0001g0211 a0001c0011t0002g0149 a0001c0015t0004g0282 a0001c0016t0001g0272 a0006c0022t0002g0270 a0010c0023t0001g0166	74	310	0.2387	-46	c.267 others(65): Show c.2675+9466_2675+9511delACCTCCCCACGCGCCGCTCCTCCACC TCCCCACGCGCCGCTCCTCC		ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	17/30					INFO_REALIGN_3_PRIME	chr8	TogoVar
ADGRB1_chr8_142444649_142550007	142500281	ACCTCCCC others(39): Show ACCTCCCCACGCGCCGCTCCTCCACCTCCCCACGCGCCGCTCCTCCC	A A	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0125 a0001c0002t0001g0125	1	310	0.0032	-46	c.267 others(65): Show c.2675+9469_2675+9514delTCCCCACGCGCCGCTCCTCCACCTCC CCACGCGCCGCTCCTCCCCC		ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	17/30					INFO_REALIGN_3_PRIME	chr8	TogoVar
ADGRB1_chr8_142444649_142550007	142500289	ACGCGCCG others(39): Show ACGCGCCGCTCCTCCACCTCCCCACGCGCCGCTCCTCCCCCGCCCCC	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01261.hp1 HG02647.hp2 others(1): Show HG01071.hp1 HG01261.hp1 HG02647.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0010t0001 a0001c0001t0001 a0001c0001t0002 a0001c0010t0001	a0001c0001t0001g0077 a0001c0001t0001g0219 a0001c0001t0002g0074 others(1): Show a0001c0001t0001g0077 a0001c0001t0001g0219 a0001c0001t0002g0074 a0001c0010t0001g0302	4	310	0.0129	-46	c.267 others(65): Show c.2675+9489_2675+9534delACCTCCCCACGCGCCGCTCCTCCCCC GCCCCCCGCGCCGCTCCTCC		ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	17/30					INFO_REALIGN_3_PRIME	chr8	TogoVar
ADGRD1_chr12_130948907_131146469	131124652	AAACACAC others(39): Show AAACACACACACTGCCCACCGCCCCTTCTCGAATTGTTCTCGGCTGT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00738.hp1 others(26): Show HG00280.hp1 HG00639.hp1 HG00738.hp1 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01258.hp1 HG01433.hp2 HG01515.hp1 HG01884.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp2 HG02273.hp2 HG02293.hp1 HG02559.hp2 HG02698.hp1 HG03225.hp2 HG03669.hp1 HG03688.hp2 HG04204.hp2 NA19030.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0017 a0002c0028 a0004c0016 a0005c0011 a0005c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0002t0001 a0001c0003t0002 a0001c0017t0008 a0002c0028t0001 a0004c0016t0002 a0004c0016t0003 a0005c0011t0002 a0005c0011t0008 a0005c0021t0021	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0111 others(26): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0002g0098 a0001c0001t0002g0171 a0001c0001t0002g0184 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0003g0023 a0001c0001t0003g0026 a0001c0001t0015g0097 a0001c0002t0001g0223 a0001c0003t0002g0186 a0001c0017t0008g0029 a0001c0017t0008g0030 a0002c0028t0001g0022 a0004c0016t0002g0065 a0004c0016t0003g0051 a0005c0011t0002g0110 a0005c0011t0008g0047 a0005c0021t0021g0048	29	242	0.1198	-46	c.217 others(65): Show c.2175+3784_2175+3829delGTAACACACACACTGCCCACCGCCCC TTCTCGAATTGTTCTCGGCT		ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	20/24					INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRG6_chr6_142297007_142451261	142318166	TATATATT others(39): Show TATATATTTATATATTATATATTATATATTTATATTATATATATTTA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp2 HG02559.hp2 others(9): Show HG01243.hp1 HG02258.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02717.hp1 HG02965.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0018 a0004c0005t0001 a0004c0005t0016 a0001c0001t0018 a0004c0005t0001 a0004c0005t0016	a0001c0001t0018g0051 a0004c0005t0001g0223 a0004c0005t0001g0226 others(9): Show a0001c0001t0018g0051 a0004c0005t0001g0223 a0004c0005t0001g0226 a0004c0005t0001g0227 a0004c0005t0001g0228 a0004c0005t0001g0229 a0004c0005t0001g0230 a0004c0005t0001g0233 a0004c0005t0001g0234 a0004c0005t0001g0249 a0004c0005t0001g0255 a0004c0005t0016g0225	12	260	0.0462	-46	c.103 others(63): Show c.103+8523_103+8568delATATATTTATATATTATATATTATATAT TTATATTATATATATTTA		ADGRG6	ENSG00000112414.15	transcript	ENST00000367609.8	protein_coding	2/24						chr6	TogoVar
ADGRL3_chr4_61195326_62083335	61847808	ATATTATA others(39): Show ATATTATATATATATAATATAAAATATATATATAATATAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	58	0.0172	-46	c.148 others(67): Show c.1480+33923_1480+33968delTATATATATATAATATAAAATATA TATATAATATAAAATATATTAT		ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	9/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
ADIRF_chr10_86963482_86975915	86970094	CCTGTACC others(39): Show CCTGTACCACCGAATACTCTGGAGGACACAGAGGCATGGCAATGGTG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	1	408	0.0025	-46	c.62- others(58): Show c.62-105_62-60delCTGTACCACCGAATACTCTGGAGGACACAGAGG CATGGCAATGGTG		ADIRF	ENSG00000148671.14	transcript	ENST00000372013.8	protein_coding	1/2						chr10	TogoVar
ADK_chr10_74146221_74714290	74300254	CCTTGTTT others(39): Show CCTTGTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	200	0.0050	-46	c.195 others(65): Show c.195-14412_195-14367delCTTGTTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCT		ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	3/10						chr10	TogoVar
ADRM1_chr20_62297997_62313862	62313816	CGAGGGGT others(39): Show CGAGGGGTGGCGAGTGGGCACGGAGAGATGAGGGGTGGCGAGTGGGC	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	368	0.0027	-46	c.50 others(57): Show c.5056_*5101delGAGGGGTGGCGAGTGGGCACGGAGAGATGAGGGG TGGCGAGTGGGC		ADRM1	ENSG00000130706.13	transcript	ENST00000253003.7	protein_coding					4955		chr20	TogoVar
AFDN_chr6_167821911_167977023	167969856	CACAAGGT others(39): Show CACAAGGTCAAGATGTATCCAATAAAGTGAAAGCTTCTCGTAAATTA	C C	frameshift_variant frameshift_variant	HIGH	NA19074.hp1 NA19074.hp1	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0002 a0011c0018t0002	a0011c0018t0002g0239 a0011c0018t0002g0239	1	326	0.0031	-46	c.542 others(55): Show c.5421_5466delAGGTCAAGATGTATCCAATAAAGTGAAAGCTTCTCG TAAATTAACA	p.Gly others(6): Show p.Gly1808fs	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	34/34	5643/7806	5421/5496	1807/1831		INFO_REALIGN_3_PRIME	chr6	TogoVar
AFF2_chrX_148495617_149005663	148897227	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0128 a0001c0001t0011g0128	1	169	0.0059	-46	c.136 others(65): Show c.1360-6988_1360-6943delATATATATATATATATATATATATAT ATATATATATATATGTATAT		AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	8/20					INFO_REALIGN_3_PRIME	chrX	TogoVar
AGBL1_chr15_86074871_86921156	86827323	ACATATAT others(39): Show ACATATATATATATATGTGTATATATATATATATATATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02922.hp1 NA19030.hp1 HG02630.hp1 HG02922.hp1 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0004c0009t0017 a0001c0001t0001 a0004c0009t0017	a0001c0001t0001g0110 a0001c0001t0001g0111 a0004c0009t0017g0008 a0001c0001t0001g0110 a0001c0001t0001g0111 a0004c0009t0017g0008	3	132	0.0227	-46	c.315 others(67): Show c.3159-79763_3159-79718delCATATATATATATATGTGTATATA TATATATATATATATGTGTGTG		AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22						chr15	TogoVar

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Search Results (Total: 1419 hits)