Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ALDH5A1_chr6_24489969_24542207	24522478	C C	CGTGTGTG others(21): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01071.hp1 HG02080.hp1 others(8): Show HG00408.hp2 HG01071.hp1 HG02080.hp1 HG03654.hp1 HG03927.hp1 NA18612.hp2 NA18968.hp1 NA18970.hp1 NA18980.hp2 NA19055.hp1 NA19063.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0010 a0001c0001 a0008c0010	a0001c0001t0001 a0008c0010t0001 a0001c0001t0001 a0008c0010t0001	a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0186 others(8): Show a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0213 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0226 a0008c0010t0001g0205	11	368	0.0299	28	c.101 others(45): Show c.1015-263_1015-262insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
ALG6_chr1_63362627_63443553	63400273	A A	ATATATAT others(21): Show ATATATATATATACGTATATATATATACG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18945.hp1 NA18984.hp2 NA18944.hp1 NA18945.hp1 NA18984.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075	3	388	0.0077	28	c.168 others(45): Show c.168-1973_168-1972insTATACGTATATATATATACGTATATATA	ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALG9_chr11_111777195_111876581	111850706	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	314	0.0032	28	c.895 others(45): Show c.895+2673_895+2674insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ALG9	ENSG00000086848.15	transcript	ENST00000616540.5	protein_coding	8/14			chr11	TogoVar
ALKBH5_chr17_18178828_18214954	18201775	A A	ATAGATAG others(21): Show ATAGATAGATAGATAGATAGATAGATAGG	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA19056.hp1 NA19090.hp2 HG04204.hp1 NA19056.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0185 a0001c0001t0002g0035 a0001c0001t0002g0185	3	418	0.0072	28	c.852 others(45): Show c.852-5029_852-5028insATAGATAGATAGATAGGTAGATAGATAG	ALKBH5	ENSG00000091542.9	transcript	ENST00000399138.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
ALLC_chr2_3653200_3707671	3660819	A A	AATCGGAA others(21): Show AATCGGAATGAGTCAGGGTGGAGCAGGTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02809.hp1 HG02818.hp2 others(6): Show HG02630.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03041.hp1 HG03209.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0010	a0001c0001 a0002c0002 a0006c0006 others(1): Show a0001c0001 a0002c0002 a0006c0006 a0010c0014	a0001c0001t0001 a0002c0002t0002 a0006c0006t0002 others(1): Show a0001c0001t0001 a0002c0002t0002 a0006c0006t0002 a0010c0014t0002	a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 others(6): Show a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0181 a0002c0002t0002g0149 a0002c0002t0002g0150 a0006c0006t0002g0151 a0010c0014t0002g0246	9	274	0.0329	28	c.-63 others(45): Show c.-63+2585_-63+2612dupGGAATGAGTCAGGGTGGAGCAGGTGATC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3660879	G G	GGAATGAG others(21): Show GGAATGAGTCAGGGTGGAGCAGGTGATCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00544.hp1 others(78): Show HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00733.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01346.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02004.hp1 HG02056.hp2 HG02080.hp2 HG02109.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02451.hp2 HG02523.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp1 HG03540.hp1 HG03704.hp1 HG04199.hp1 NA18522.hp1 NA18522.hp2 NA18939.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18952.hp2 NA18961.hp2 NA18963.hp2 NA18965.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18989.hp2 NA18995.hp1 NA18999.hp1 NA19007.hp2 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19074.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19088.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0001c0012 a0002c0002 others(6): Show a0001c0001 a0001c0012 a0002c0002 a0002c0005 a0002c0009 a0003c0003 a0003c0010 a0004c0004 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0012t0002 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0012t0002 a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 a0002c0005t0002 a0002c0009t0002 a0003c0003t0001 a0003c0003t0002 a0003c0010t0004 a0004c0004t0002 a0004c0004t0003 a0007c0008t0002	a0001c0001t0001g0015 a0001c0001t0001g0186 a0001c0001t0001g0210 others(73): Show a0001c0001t0001g0015 a0001c0001t0001g0186 a0001c0001t0001g0210 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0012t0002g0244 a0002c0002t0001g0233 a0002c0002t0002g0001 a0002c0002t0002g0011 a0002c0002t0002g0014 a0002c0002t0002g0137 a0002c0002t0002g0182 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0208 a0002c0002t0002g0211 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0222 a0002c0002t0002g0225 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0245 a0002c0002t0002g0247 a0002c0002t0002g0250 a0002c0005t0001g0234 a0002c0005t0001g0235 a0002c0005t0001g0236 a0002c0005t0001g0243 a0002c0005t0002g0012 a0002c0009t0002g0013 a0003c0003t0001g0047 a0003c0003t0002g0010 a0003c0003t0002g0016 a0003c0003t0002g0017 a0003c0003t0002g0152 a0003c0003t0002g0183 a0003c0003t0002g0187 a0003c0003t0002g0188 a0003c0003t0002g0189 a0003c0003t0002g0190 a0003c0003t0002g0191 a0003c0003t0002g0193 a0003c0003t0002g0194 a0003c0003t0002g0195 a0003c0003t0002g0196 a0003c0003t0002g0202 a0003c0003t0002g0203 a0003c0003t0002g0204 a0003c0003t0002g0205 a0003c0003t0002g0209 a0003c0003t0002g0221 a0003c0003t0002g0239 a0003c0003t0002g0249 a0003c0010t0004g0256 a0004c0004t0002g0184 a0004c0004t0002g0185 a0004c0004t0002g0192 a0004c0004t0002g0197 a0004c0004t0002g0198 a0004c0004t0002g0206 a0004c0004t0003g0251 a0004c0004t0003g0252 a0007c0008t0002g0207	81	274	0.2956	28	c.-63 others(45): Show c.-63+2612_-63+2613insTGAATGAGTCAGGGTGGAGCAGGTGATC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3660879	G G	GGATTGAG others(21): Show GGATTGAGTCAGGGTGGAGCAGGTGATCT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02071.hp1 HG02083.hp1 others(4): Show HG00558.hp2 HG02071.hp1 HG02083.hp1 HG02148.hp2 HG02293.hp1 NA18961.hp1 NA19060.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001	a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0248 others(4): Show a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0248 a0002c0002t0001g0230 a0003c0003t0001g0228 a0003c0003t0001g0229 a0004c0004t0001g0226	7	274	0.0256	28	c.-63 others(45): Show c.-63+2587_-63+2588insTTGAGTCAGGGTGGAGCAGGTGATCTGA	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALOX15B_chr17_8034059_8054134	8040601	G G	GAGAAAGA others(21): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	470	0.0021	28	c.449 others(43): Show c.449+644_449+671dupGAAAGAAAGAAAGAAAGAAAGAAAGAAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8044105	G G	GAGGAAGG others(21): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0088 a0002c0002t0002g0088	1	470	0.0021	28	c.677 others(43): Show c.677-702_677-675dupGGAAGGAAGGAAGGAAGGAAGGAAGGAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8044151	G G	GGAAGGAA others(21): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00738.hp1 HG01256.hp1 others(13): Show HG00408.hp2 HG00738.hp1 HG01256.hp1 HG01258.hp2 HG01993.hp2 HG02040.hp1 HG02818.hp1 HG03669.hp1 HG03688.hp2 HG04204.hp1 NA18940.hp1 NA18949.hp2 NA18967.hp2 NA19004.hp2 NA19080.hp2 NA19089.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0023	a0001c0005 a0001c0008 a0002c0002 others(2): Show a0001c0005 a0001c0008 a0002c0002 a0004c0006 a0023c0043	a0001c0005t0002 a0001c0008t0001 a0002c0002t0002 others(2): Show a0001c0005t0002 a0001c0008t0001 a0002c0002t0002 a0004c0006t0003 a0023c0043t0002	a0001c0005t0002g0020 a0001c0005t0002g0030 a0001c0008t0001g0238 others(8): Show a0001c0005t0002g0020 a0001c0005t0002g0030 a0001c0008t0001g0238 a0002c0002t0002g0020 a0002c0002t0002g0030 a0002c0002t0002g0033 a0002c0002t0002g0049 a0002c0002t0002g0119 a0004c0006t0003g0178 a0004c0006t0003g0199 a0023c0043t0002g0020	16	470	0.0340	28	c.677 others(43): Show c.677-675_677-674insGGAAGGAAGGAAGGAAGGAAGGAAAGAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8049283	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp1 NA19062.hp2 NA19091.hp2 NA18968.hp1 NA19062.hp2 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0002 a0002c0003t0001 a0002c0002t0002 a0002c0003t0001	a0002c0002t0002g0050 a0002c0003t0001g0019 a0002c0003t0001g0102 a0002c0002t0002g0050 a0002c0003t0001g0019 a0002c0003t0001g0102	3	470	0.0064	28	c.71 others(37): Show c.718_*719insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		150		chr17	TogoVar
ALPK2_chr18_58476247_58634091	58578733	G G	GACACACA others(21): Show GACACACACACGCGCGCGCGCGCACACAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0012 a0012	a0012c0093 a0012c0093	a0012c0093t0001 a0012c0093t0001	a0012c0093t0001g0140 a0012c0093t0001g0140	1	320	0.0031	28	c.196 others(43): Show c.1962+80_1962+81insGTGTGTGCGCGCGCGCGCGTGTGTGTGT	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58578736	A A	ACACACGC others(21): Show ACACACGCGCGCGCGCGCGCGCGTGCACG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03209.hp1 HG02723.hp2 HG03209.hp1	a0021 a0039 a0021 a0039	a0021c0073 a0039c0095 a0021c0073 a0039c0095	a0021c0073t0001 a0039c0095t0001 a0021c0073t0001 a0039c0095t0001	a0021c0073t0001g0168 a0039c0095t0001g0142 a0021c0073t0001g0168 a0039c0095t0001g0142	2	320	0.0063	28	c.196 others(43): Show c.1962+77_1962+78insCGTGCACGCGCGCGCGCGCGCGCGTGTG	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALX3_chr1_110054870_110075672	110060664	A A	AGGTGCTT others(21): Show AGGTGCTTCCTCCGTGGTGTCCAGGCAGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(302): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0004c0007 a0005c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0002t0007 a0001c0006t0010 a0001c0008t0001 a0004c0007t0001 a0005c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(132): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0093 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0003g0033 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0004g0036 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0123 a0001c0001t0005g0034 a0001c0001t0005g0114 a0001c0001t0005g0169 a0001c0001t0006g0044 a0001c0001t0006g0102 a0001c0001t0006g0103 a0001c0001t0006g0104 a0001c0001t0007g0100 a0001c0001t0008g0028 a0001c0001t0009g0069 a0001c0001t0009g0073 a0001c0001t0011g0117 a0001c0001t0012g0072 a0001c0002t0007g0048 a0001c0002t0007g0113 a0001c0006t0010g0132 a0001c0008t0001g0180 a0004c0007t0001g0137 a0005c0005t0001g0135	305	422	0.7228	28	c.68 others(35): Show c.68_*69insCCTGCCTGGACACCACGGAGGAAGCACC	ALX3	ENSG00000156150.9	transcript	ENST00000647563.2	protein_coding	4/4	68		chr1	TogoVar
AMBRA1_chr11_46391414_46599023	46419995	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01496.hp1 HG01515.hp1 others(12): Show HG00621.hp1 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG02258.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG03130.hp2 NA18522.hp2 NA18972.hp1 NA18984.hp1 NA19030.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0004t0001	a0001c0001t0001g0043 a0001c0001t0001g0053 a0001c0001t0001g0086 others(12): Show a0001c0001t0001g0043 a0001c0001t0001g0053 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0109 a0001c0001t0001g0125 a0001c0001t0003g0016 a0001c0002t0002g0101 a0001c0002t0002g0110 a0001c0002t0002g0129 a0001c0002t0002g0144 a0001c0002t0002g0147 a0001c0002t0002g0150 a0001c0004t0001g0055	15	160	0.0938	28	c.297 others(47): Show c.2977-1944_2977-1943insGTGTGTGTGTGTGTGTGTGTGTGTGT GT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	14/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46527477	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	160	0.0063	28	c.207 others(49): Show c.2072+14467_2072+14468insTTTTTTTTTTTTTTTTTTTTTTTT TTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	7/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46552368	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	160	0.0063	28	c.-12 others(47): Show c.-120-3896_-120-3869dupTTTTTTTTTTTTTTTTTTTTTTTTTT TT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46585691	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	160	0.0063	28	c.-12 others(47): Show c.-121+8136_-121+8137insATATATATATATATATATATATATAT AT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46585695	A A	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	160	0.0063	28	c.-12 others(47): Show c.-121+8132_-121+8133insATATATATATATATATATATATATTT TT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46585695	A A	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03017.hp1 HG03139.hp1 HG02965.hp2 HG03017.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0048 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0048	3	160	0.0188	28	c.-12 others(47): Show c.-121+8132_-121+8133insATATATATATATATATATATATATAT TT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMER2_chr13_25156679_25177288	25159418	T T	TTATATAT others(21): Show TTATATATTCTCATATATAATATATGTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0000 a0001c0001t0049g0000	1	416	0.0024	28	c.10 others(41): Show c.10185_*10186insTAACATATATTATATATGAGAATATATA	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2260		chr13	TogoVar
AMER2_chr13_25156679_25177288	25174809	C C	CCCTCCCT others(21): Show CCCTCCCTCCCTCCCTCCTTCCTTCCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	1	416	0.0024	28	c.-31 others(39): Show c.-3191_-3190insAAAGGAAGGAAGGAGGGAGGGAGGGAGG	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2522		chr13	TogoVar
AMER2_chr13_25156679_25177288	25174825	C C	CCTTCCTT others(21): Show CCTTCCTTCCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	1	416	0.0024	28	c.-32 others(39): Show c.-3207_-3206insAAAGAAAGAAAGAAAGAAAGGAAGGAAG	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2538		chr13	TogoVar
AMER2_chr13_25156679_25177288	25174825	C C	CCTTCCTT others(21): Show CCTTCCTTTCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18959.hp2 NA18983.hp1 others(1): Show NA18948.hp2 NA18959.hp2 NA18983.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	4	416	0.0096	28	c.-32 others(39): Show c.-3207_-3206insAAAGAAAGAAAGAAAGAAAGAAAGGAAG	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2538		chr13	TogoVar
AMFR_chr16_56356452_56430545	56379556	A A	ACATCTCA others(21): Show ACATCTCATCTGAGATAAGGCAAGTCCCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0272 a0001c0001t0003g0272	1	356	0.0028	28	c.138 others(47): Show c.1380+6335_1380+6362dupAGGGACTTGCCTTATCTCAGATGAGA TG	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	10/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406067	A A	AGGGGGAG others(21): Show AGGGGGAGAGGGGGGAGAGGGGAGAGGGG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0190 a0001c0001t0004g0190	1	356	0.0028	28	c.667 others(43): Show c.667-824_667-823insCCCCTCTCCCCTCTCCCCCCTCTCCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406552	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18941.hp1 NA18941.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0031 a0001c0001t0053 a0001c0001t0005 a0001c0001t0031 a0001c0001t0053	a0001c0001t0005g0033 a0001c0001t0031g0008 a0001c0001t0053g0347 a0001c0001t0005g0033 a0001c0001t0031g0008 a0001c0001t0053g0347	3	356	0.0084	28	c.667 others(45): Show c.667-1309_667-1308insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMIGO1_chr1_109499178_109514727	109503474	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG03516.hp2 HG02818.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	2	400	0.0050	28	c.39 others(39): Show c.3956_*3957insTATATATATATATATATATATATATATA	AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding		703		chr1	TogoVar
AMIGO1_chr1_109499178_109514727	109503476	T T	TCATATAT others(21): Show TCATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0012 a0001c0001t0011g0012	1	400	0.0025	28	c.39 others(39): Show c.3954_*3955insTATATATATATATATATATATATATATG	AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding		701		chr1	TogoVar
AMIGO1_chr1_109499178_109514727	109503476	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	400	0.0025	28	c.39 others(39): Show c.3954_*3955insTATATATATATATATATATATATATATA	AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding		701		chr1	TogoVar
AMOT_chrX_112769877_112845831	112829793	G G	GGTGATCA others(21): Show GGTGATCAACCCTGAAGTGGATGTGAGCA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0153 a0001c0001t0004g0153	1	270	0.0037	28	c.-21 others(47): Show c.-212+2473_-212+2500dupTGCTCACATCCACTTCAGGGTTGATC AC	AMOT	ENSG00000126016.17	transcript	ENST00000371959.9	protein_coding	2/13			chrX	TogoVar
AMPH_chr7_38378704_38636373	38407021	C C	CCTCTCTC others(21): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG04184.hp2 NA20905.hp1 HG02602.hp1 HG04184.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0228 a0001c0002t0002g0025 a0001c0002t0002g0238 a0001c0001t0001g0228 a0001c0002t0002g0025 a0001c0002t0002g0238	3	288	0.0104	28	c.139 others(49): Show c.1398+10776_1398+10803dupAGAGAGAGAGAGAGAGAGAGAGAG AGAG	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38407048	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	288	0.0035	28	c.139 others(49): Show c.1398+10776_1398+10777insTATATATATATATAGAGAGAGAGA GAGA	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38407048	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp2 NA18612.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0173 a0001c0001t0001g0049 a0001c0001t0001g0173	2	288	0.0069	28	c.139 others(49): Show c.1398+10776_1398+10777insTATAGAGAGAGAGAGAGAGAGAGA GAGA	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38416102	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01943.hp1 HG02080.hp1 others(7): Show HG00733.hp1 HG01943.hp1 HG02080.hp1 HG02083.hp1 HG02148.hp1 HG02559.hp1 HG03704.hp1 HG03831.hp2 NA19058.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0033 a0001c0001t0003g0047 a0001c0001t0003g0060 others(7): Show a0001c0001t0001g0033 a0001c0001t0003g0047 a0001c0001t0003g0060 a0001c0001t0003g0063 a0001c0001t0003g0096 a0001c0001t0003g0194 a0001c0001t0003g0220 a0001c0001t0003g0281 a0001c0001t0003g0288 a0001c0001t0004g0256	10	288	0.0347	28	c.139 others(47): Show c.1398+1722_1398+1723insATATATATATATATATATATATATAT AT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38445010	T T	TATATATA others(21): Show TATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA20129.hp1 HG02602.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0004 a0001c0009t0006 a0001c0001t0004 a0001c0009t0006	a0001c0001t0004g0006 a0001c0009t0006g0077 a0001c0001t0004g0006 a0001c0009t0006g0077	2	288	0.0069	28	c.101 others(47): Show c.1018-8623_1018-8622insGTGTGTGTGTGTATATATATATATAT AT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	11/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38445010	T T	TATATATA others(21): Show TATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03490.hp2 HG03492.hp1 others(9): Show HG02683.hp1 HG03490.hp2 HG03492.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG04184.hp1 NA18612.hp2 NA19056.hp1 NA19058.hp1 NA19084.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0007t0005	a0001c0001t0001g0099 a0001c0001t0001g0173 a0001c0001t0001g0205 others(9): Show a0001c0001t0001g0099 a0001c0001t0001g0173 a0001c0001t0001g0205 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0237 a0001c0001t0003g0185 a0001c0001t0003g0250 a0001c0001t0003g0278 a0001c0001t0006g0027 a0001c0001t0006g0028 a0001c0007t0005g0263	12	288	0.0417	28	c.101 others(47): Show c.1018-8623_1018-8622insGTGTGTGTGTATATATATATATATAT AT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	11/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38445010	T T	TATATATA others(21): Show TATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02145.hp2 HG02165.hp2 others(2): Show HG00621.hp1 HG02145.hp2 HG02165.hp2 NA18980.hp1 NA18981.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0007 a0008c0015 a0001c0001 a0001c0007 a0008c0015	a0001c0001t0001 a0001c0007t0001 a0008c0015t0001 a0001c0001t0001 a0001c0007t0001 a0008c0015t0001	a0001c0001t0001g0130 a0001c0001t0001g0235 a0001c0001t0001g0239 others(2): Show a0001c0001t0001g0130 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0007t0001g0090 a0008c0015t0001g0226	5	288	0.0174	28	c.101 others(47): Show c.1018-8623_1018-8622insGTGTGTGTATATATATATATATATAT AT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	11/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38570999	C C	CATATATA others(21): Show CATATATATAGTATATATTCATATATTGA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0129 a0001c0002t0002g0129	1	288	0.0035	28	c.70- others(45): Show c.70-35989_70-35988insTCAATATATGAATATATACTATATATAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38572662	C C	CCGGTGGG others(21): Show CCGGTGGGGCTGGAAACCAGAAGGCACAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0184 a0002c0004t0005g0184	1	288	0.0035	28	c.70- others(45): Show c.70-37652_70-37651insATGTGCCTTCTGGTTTCCAGCCCCACCG	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
AMTN_chr4_70513569_70537743	70516301	A A	AATATATA others(21): Show AATATATATATATATATATATATATACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 NA18984.hp1 HG00621.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	2	458	0.0044	28	c.-23 others(39): Show c.-2369_-2368insATATATATATATATATATATATATACGT	AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding		2267		chr4	TogoVar
AMTN_chr4_70513569_70537743	70516404	G G	GTATATAT others(21): Show GTATATATATATATATATATATATACGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18987.hp1 NA19002.hp2 NA18955.hp1 NA18987.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0047 a0001c0001t0002g0032 a0001c0001t0002g0047	3	458	0.0066	28	c.-22 others(39): Show c.-2266_-2265insTATATATATATATATATATATATACGTA	AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding		2164		chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145026945	A A	ATATATAT others(21): Show ATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03209.hp2 NA18942.hp2 others(2): Show HG01109.hp1 HG03209.hp2 NA18942.hp2 NA18962.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0188 a0001c0001t0001g0214 others(2): Show a0001c0001t0001g0176 a0001c0001t0001g0188 a0001c0001t0001g0214 a0001c0001t0001g0231 a0001c0001t0001g0252	5	336	0.0149	28	c.328 others(47): Show c.328-31343_328-31342insCACACATATATATATATATATATATA TA	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145034523	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03516.hp1 HG03540.hp1 others(1): Show HG02895.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0108 a0001c0001t0001g0327 a0001c0001t0001g0328 others(1): Show a0001c0001t0001g0108 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0003g0324	4	336	0.0119	28	c.327 others(47): Show c.327+30048_327+30049insTATATATATATATATATATATATATA TA	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145034543	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0330 a0001c0001t0003g0330	1	336	0.0030	28	c.327 others(47): Show c.327+30028_327+30029insCATATATATATATATATATATATATA TA	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC1_chr2_111762640_111889193	111764800	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0231 a0001c0002t0002g0231	1	370	0.0027	28	c.44 others(39): Show c.4490_*4491insTATATATATATATATATATATATATATA	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2839		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(21): Show TATATATATATATATATATATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0286 a0001c0003t0004g0286	1	370	0.0027	28	c.44 others(39): Show c.4477_*4478insGTGTGTGTATATATATATATATATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2826		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(21): Show TATATATATATATATATATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0279 a0001c0003t0004g0279	1	370	0.0027	28	c.44 others(39): Show c.4477_*4478insGTGTGTATATATATATATATATATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2826		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(21): Show TATATATATATATATATATATATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA19001.hp2 NA19072.hp2 NA18943.hp2 NA19001.hp2 NA19072.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0266 a0001c0003t0004g0276 a0001c0003t0004g0289 a0001c0003t0004g0266 a0001c0003t0004g0276 a0001c0003t0004g0289	3	370	0.0081	28	c.44 others(39): Show c.4477_*4478insGTGTATATATATATATATATATATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2826		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764814	A A	ATATATAT others(21): Show ATATATATATATATATATATGTATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02922.hp2 NA20300.hp2 HG01243.hp1 HG02922.hp2 NA20300.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0007 a0001c0010t0007	a0001c0010t0007g0311 a0001c0010t0007g0312 a0001c0010t0007g0313 a0001c0010t0007g0311 a0001c0010t0007g0312 a0001c0010t0007g0313	3	370	0.0081	28	c.44 others(39): Show c.4476_*4477insCATATATACATATATATATATATATATA	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2825		chr2	TogoVar

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