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
AK4_chr1_65143203_65237145	65152376	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0049 a0002c0004t0049	a0002c0004t0049g0237 a0002c0004t0049g0237	1	300	0.0033	-21	c.145 others(38): Show c.145+3826_145+3846delATATATATTTTTTTTTTTTTT		AK4	ENSG00000162433.15	transcript	ENST00000327299.8	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
AK4_chr1_65143203_65237145	65172080	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01106.hp1 HG01109.hp1 others(4): Show HG01071.hp1 HG01106.hp1 HG01109.hp1 HG01346.hp2 HG01975.hp2 HG01978.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0052 a0001c0002t0005 a0001c0001t0004 a0001c0001t0052 a0001c0002t0005	a0001c0001t0004g0289 a0001c0001t0004g0294 a0001c0001t0004g0296 others(4): Show a0001c0001t0004g0289 a0001c0001t0004g0294 a0001c0001t0004g0296 a0001c0001t0004g0298 a0001c0001t0004g0300 a0001c0001t0052g0291 a0001c0002t0005g0292	7	300	0.0233	-21	c.146 others(40): Show c.146-18629_146-18609delATATATATATATATATATATA		AK4	ENSG00000162433.15	transcript	ENST00000327299.8	protein_coding	1/4						chr1	TogoVar
AK5_chr1_77277019_77564966	77319512	TATGCCAG others(14): Show TATGCCAGCACACACTGGTTTG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0226 a0002c0002t0002g0226	1	284	0.0035	-21	c.700 others(40): Show c.700-20862_700-20842delGCCAGCACACACTGGTTTGAT		AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77444298	ATAGTATA others(14): Show ATAGTATATATACACAATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp1 HG00609.hp2 others(62): Show HG00323.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG01106.hp2 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01934.hp1 HG01952.hp1 HG02132.hp2 HG02451.hp1 HG02523.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG03239.hp2 HG03704.hp1 HG04204.hp2 NA18522.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18947.hp1 NA18951.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18973.hp1 NA18982.hp1 NA18984.hp2 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA19005.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19054.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19065.hp2 NA19066.hp2 NA19079.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0009 others(4): Show a0001c0001 a0001c0003 a0001c0009 a0002c0002 a0002c0004 a0003c0005 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0003t0001 a0001c0003t0021 a0001c0009t0004 a0002c0002t0002 a0002c0002t0005 a0002c0002t0010 a0002c0002t0011 a0002c0002t0016 a0002c0002t0022 a0002c0002t0026 a0002c0002t0027 a0002c0004t0002 a0002c0004t0010 a0002c0004t0017 a0002c0004t0018 a0003c0005t0009 a0004c0007t0001	a0001c0001t0001g0027 a0001c0001t0001g0057 a0001c0001t0001g0058 others(62): Show a0001c0001t0001g0027 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0201 a0001c0001t0001g0213 a0001c0001t0003g0187 a0001c0001t0005g0231 a0001c0001t0006g0193 a0001c0001t0006g0227 a0001c0003t0001g0243 a0001c0003t0001g0244 a0001c0003t0001g0260 a0001c0003t0021g0237 a0001c0009t0004g0091 a0002c0002t0002g0009 a0002c0002t0002g0026 a0002c0002t0002g0037 a0002c0002t0002g0053 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0068 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0118 a0002c0002t0002g0205 a0002c0002t0002g0207 a0002c0002t0002g0223 a0002c0002t0002g0265 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0274 a0002c0002t0002g0282 a0002c0002t0005g0173 a0002c0002t0010g0039 a0002c0002t0010g0105 a0002c0002t0011g0101 a0002c0002t0016g0126 a0002c0002t0016g0127 a0002c0002t0022g0204 a0002c0002t0026g0156 a0002c0002t0027g0175 a0002c0004t0002g0238 a0002c0004t0002g0241 a0002c0004t0002g0245 a0002c0004t0002g0259 a0002c0004t0010g0254 a0002c0004t0017g0200 a0002c0004t0018g0251 a0003c0005t0009g0005 a0004c0007t0001g0215	65	284	0.2289	-21	c.105 others(42): Show c.1059+26584_1059+26604delTAGTATATATACACAATATAT		AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13						chr1	TogoVar
AK5_chr1_77277019_77564966	77470846	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0162 a0002c0002t0005g0162	1	284	0.0035	-21	c.106 others(42): Show c.1060-12470_1060-12450delATATATATATATATATATATA		AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13						chr1	TogoVar
AK5_chr1_77277019_77564966	77470848	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	284	0.0035	-21	c.106 others(42): Show c.1060-12468_1060-12448delATATATATATATATATATATA		AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13						chr1	TogoVar
AK5_chr1_77277019_77564966	77470852	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03540.hp2 HG02258.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0002 a0002c0006t0008 a0002c0002t0002 a0002c0006t0008	a0002c0002t0002g0226 a0002c0006t0008g0086 a0002c0002t0002g0226 a0002c0006t0008g0086	2	284	0.0070	-21	c.106 others(42): Show c.1060-12464_1060-12444delATATATATATATATATATATA		AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13						chr1	TogoVar
AK5_chr1_77277019_77564966	77470854	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03486.hp2 NA18962.hp2 others(7): Show HG02135.hp1 HG03486.hp2 NA18962.hp2 NA18967.hp2 NA18992.hp1 NA19002.hp2 NA19060.hp2 NA19062.hp1 NA19074.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0002c0002t0012	a0001c0001t0001g0028 a0001c0001t0001g0111 a0001c0001t0001g0209 others(7): Show a0001c0001t0001g0028 a0001c0001t0001g0111 a0001c0001t0001g0209 a0001c0001t0003g0168 a0001c0001t0003g0174 a0001c0001t0003g0178 a0001c0001t0003g0180 a0001c0001t0003g0284 a0002c0002t0002g0052 a0002c0002t0012g0003	10	284	0.0352	-21	c.106 others(42): Show c.1060-12462_1060-12442delATATATATATATATATATATA		AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13						chr1	TogoVar
AK5_chr1_77277019_77564966	77470855	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02080.hp1 HG02135.hp2 others(9): Show HG01993.hp2 HG02080.hp1 HG02135.hp2 HG02165.hp1 HG03209.hp1 HG03516.hp1 NA18940.hp2 NA18963.hp1 NA18973.hp2 NA19011.hp2 NA19063.hp1 NA19066.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0003c0005t0009	a0001c0001t0001g0042 a0001c0001t0001g0069 a0001c0001t0001g0104 others(9): Show a0001c0001t0001g0042 a0001c0001t0001g0069 a0001c0001t0001g0104 a0001c0001t0001g0117 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0208 a0001c0001t0003g0170 a0001c0001t0003g0183 a0002c0002t0002g0276 a0003c0005t0009g0133 a0003c0005t0009g0138	12	284	0.0423	-21	c.106 others(42): Show c.1060-12460_1060-12440delATATATATATATATATATATT		AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77470857	ATATATAT others(14): Show ATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA19043.hp1 HG02723.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0008 a0001c0001t0001 a0002c0002t0008	a0001c0001t0001g0280 a0002c0002t0008g0278 a0001c0001t0001g0280 a0002c0002t0008g0278	2	284	0.0070	-21	c.106 others(42): Show c.1060-12458_1060-12438delATATATATATATATATATTTT		AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77482992	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG03139.hp2 HG03486.hp2 HG01169.hp2 HG03139.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0012 a0002c0002t0002 a0002c0002t0012	a0002c0002t0002g0065 a0002c0002t0002g0196 a0002c0002t0012g0003 a0002c0002t0002g0065 a0002c0002t0002g0196 a0002c0002t0012g0003	3	284	0.0106	-21	c.106 others(38): Show c.1060-297_1060-277delAAAAAAAAAAAAAAAAAAAAA		AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
AK9_chr6_109487855_109696202	109684873	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0020 a0020	a0020c0027 a0020c0027	a0020c0027t0002 a0020c0027t0002	a0020c0027t0002g0292 a0020c0027t0002g0292	1	378	0.0027	-21	c.-12 others(38): Show c.-12+6253_-12+6273delTTTTTTTTTTTTTTTTTTTTT		AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	1/40						chr6	TogoVar
AKAP13_chr15_85375603_85754355	85442482	ATATATAT others(14): Show ATATATATAATATATATTATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG00621.hp1 others(17): Show HG00099.hp2 HG00597.hp1 HG00621.hp1 HG02004.hp2 HG02486.hp1 HG02717.hp1 HG02895.hp2 HG02965.hp2 HG02976.hp1 HG03516.hp1 HG03688.hp2 HG03704.hp1 NA18950.hp2 NA18977.hp2 NA18982.hp2 NA19004.hp1 NA19007.hp2 NA19060.hp2 NA19083.hp2 NA19090.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0007 a0020	a0001c0002 a0001c0004 a0002c0001 others(6): Show a0001c0002 a0001c0004 a0002c0001 a0002c0039 a0003c0003 a0005c0005 a0006c0008 a0007c0010 a0020c0030	a0001c0002t0006 a0001c0004t0001 a0002c0001t0002 others(10): Show a0001c0002t0006 a0001c0004t0001 a0002c0001t0002 a0002c0039t0002 a0003c0003t0008 a0003c0003t0079 a0005c0005t0004 a0005c0005t0032 a0006c0008t0005 a0007c0010t0001 a0007c0010t0056 a0007c0010t0066 a0020c0030t0001	a0001c0002t0006g0283 a0001c0004t0001g0211 a0002c0001t0002g0224 others(17): Show a0001c0002t0006g0283 a0001c0004t0001g0211 a0002c0001t0002g0224 a0002c0039t0002g0134 a0003c0003t0008g0135 a0003c0003t0008g0136 a0003c0003t0079g0208 a0005c0005t0004g0288 a0005c0005t0004g0290 a0005c0005t0032g0291 a0005c0005t0032g0298 a0006c0008t0005g0133 a0006c0008t0005g0223 a0006c0008t0005g0225 a0007c0010t0001g0249 a0007c0010t0001g0250 a0007c0010t0001g0252 a0007c0010t0056g0254 a0007c0010t0066g0251 a0020c0030t0001g0289	20	314	0.0637	-21	c.-11 others(40): Show c.-11-43185_-11-43165delTATATATAATATATATTATAT		AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	1/36					INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85589917	GTTCTGTC others(14): Show GTTCTGTCTTTCCTGAATAGCT	G G	intron_variant intron_variant	MODIFIER	HG02897.hp1 NA19043.hp2 HG02897.hp1 NA19043.hp2	a0014 a0014	a0014c0026 a0014c0026	a0014c0026t0026 a0014c0026t0026	a0014c0026t0026g0108 a0014c0026t0026g0228 a0014c0026t0026g0108 a0014c0026t0026g0228	2	314	0.0064	-21	c.416 others(40): Show c.4161+4097_4161+4117delCTGTCTTTCCTGAATAGCTTT		AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	8/36					INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85650755	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03041.hp1 HG03139.hp2 HG01243.hp2 HG03041.hp1 HG03139.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0025 a0004c0006t0067 a0004c0006t0025 a0004c0006t0067	a0004c0006t0025g0064 a0004c0006t0025g0065 a0004c0006t0067g0067 a0004c0006t0025g0064 a0004c0006t0025g0065 a0004c0006t0067g0067	3	314	0.0096	-21	c.437 others(40): Show c.4375-4647_4375-4627delAAAAAAAAAAAAAAAAAAAAA		AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	10/36					INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP14_chrX_119890893_119925716	119893990	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02559.hp1 HG02886.hp1 others(1): Show HG02280.hp1 HG02559.hp1 HG02886.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0231 a0001c0001t0001g0258 others(1): Show a0001c0001t0001g0222 a0001c0001t0001g0231 a0001c0001t0001g0258 a0001c0001t0001g0275	4	304	0.0132	-21	c.-21 others(32): Show c.-2120_-2100delAAAAAAAAAAAAAAAAAAAAA		AKAP14	ENSG00000186471.13	transcript	ENST00000371431.8	protein_coding					1902		chrX	TogoVar
AKAP17A_chrX_1586604_1607520	1588712	TCCCCTCC others(14): Show TCCCCTCCCCTCCTTTCCCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0061 a0001c0005t0001g0061	1	151	0.0066	-21	c.-30 others(32): Show c.-3076_-3056delCCCCTCCCCTCCTTTCCCTTC		AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding					2891		chrX	TogoVar
AKAP17A_chrX_1586604_1607520	1595229	CTGGGTCT others(14): Show CTGGGTCTGCACCGGACATGAG	C C	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0048 a0001c0001t0008g0048	1	151	0.0066	-21	c.763 others(36): Show c.763-151_763-131delGTCTGCACCGGACATGAGTGG		AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding	2/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
AKAP1_chr17_57080246_57126344	57106431	GGCTTGGA others(14): Show GGCTTGGATAGAAATGAGGAGA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02559.hp2 HG02647.hp1 HG02965.hp2 others(4): Show HG02559.hp2 HG02647.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp1 NA18906.hp2 NA19030.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0005 a0004c0004t0006 others(1): Show a0004c0004t0003 a0004c0004t0005 a0004c0004t0006 a0004c0004t0016	a0004c0004t0003g0155 a0004c0004t0005g0158 a0004c0004t0005g0161 others(4): Show a0004c0004t0003g0155 a0004c0004t0005g0158 a0004c0004t0005g0161 a0004c0004t0006g0160 a0004c0004t0016g0156 a0004c0004t0016g0157 a0004c0004t0016g0159	7	396	0.0177	-21	c.988 others(29): Show c.988_1008delAGCTTGGATAGAAATGAGGAG	p.Ser others(13): Show p.Ser330_Glu336del	AKAP1	ENSG00000121057.13	transcript	ENST00000337714.8	protein_coding	2/11	1165/3909	988/2712	330/903		INFO_REALIGN_3_PRIME	chr17	TogoVar
AKAP7_chr6_131130467_131288532	131161644	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG02717.hp2 others(1): Show HG01243.hp2 HG01891.hp1 HG02717.hp2 HG03453.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0005 a0001c0001t0001 a0005c0005t0005	a0001c0001t0001g0078 a0005c0005t0005g0097 a0005c0005t0005g0098 others(1): Show a0001c0001t0001g0078 a0005c0005t0005g0097 a0005c0005t0005g0098 a0005c0005t0005g0099	4	304	0.0132	-21	c.291 others(38): Show c.291+1466_291+1486delAAAAAAAAAAAAAAAAAAAAA		AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP7_chr6_131130467_131288532	131247294	TATATATA others(14): Show TATATATATATATATATATATG	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0166 a0001c0001t0038g0166	1	304	0.0033	-21	c.850 others(40): Show c.850+27487_850+27507delATATATATATATATATATATG		AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	7/7						chr6	TogoVar
AKAP9_chr7_91935862_92115673	92012973	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0296 a0003c0003t0002g0296	1	306	0.0033	-21	c.353 others(38): Show c.3532+347_3532+367delTTTTTTTTTTTTTTTTTTTTT		AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	9/49					INFO_REALIGN_3_PRIME	chr7	TogoVar
AKT2_chr19_40225317_40290345	40230344	GACTGCTG others(14): Show GACTGCTGGTAGCACCAAACGA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0307 a0001c0001t0031g0307	1	360	0.0028	-21	c.35 others(32): Show c.3507_*3527delTCGTTTGGTGCTACCAGCAGT		AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding	14/14				3507		chr19	TogoVar
AKT2_chr19_40225317_40290345	40238210	GTGACAGC others(14): Show GTGACAGCTAGAGGGACCAATC	G G	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	360	0.0028	-21	c.709 others(36): Show c.709-140_709-120delGATTGGTCCCTCTAGCTGTCA		AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding	8/13						chr19	TogoVar
AKT3_chr1_243494724_243855243	243832120	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01981.hp1 HG02145.hp2 others(7): Show HG01109.hp1 HG01981.hp1 HG02145.hp2 HG02486.hp1 HG02723.hp2 HG02895.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0001t0030	a0001c0001t0001g0206 a0001c0001t0003g0204 a0001c0001t0003g0205 others(7): Show a0001c0001t0001g0206 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0279 a0001c0001t0014g0025 a0001c0001t0014g0026 a0001c0001t0030g0152	10	301	0.0332	-21	c.46+ others(38): Show c.46+10984_46+11004delTTTTTTTTTTTTTTTTTTTTT		AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	2/13						chr1	TogoVar
AKT3_chr1_243494724_243855243	243853217	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	301	0.0033	-21	c.-33 others(32): Show c.-3311_-3291delAAAAAAAAAAAAAAAAAAAAA		AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding					2975		chr1	TogoVar
ALDH1L2_chr12_105014790_105089458	105059267	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG02257.hp2 others(8): Show HG01257.hp1 HG01258.hp1 HG02257.hp2 HG02559.hp2 HG03209.hp2 HG03453.hp2 HG03579.hp1 HG03579.hp2 NA18940.hp2 NA18994.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0034 a0001c0002t0005	a0001c0001t0001g0226 a0001c0001t0001g0337 a0001c0001t0004g0221 others(8): Show a0001c0001t0001g0226 a0001c0001t0001g0337 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0008g0052 a0001c0001t0008g0059 a0001c0001t0008g0062 a0001c0001t0008g0063 a0001c0001t0008g0064 a0001c0001t0034g0338 a0001c0002t0005g0333	11	386	0.0285	-21	c.114 others(40): Show c.1140-1068_1140-1048delATTATTATTATTATTATTATT		ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	9/22						chr12	TogoVar
ALDH2_chr12_111761933_111822532	111764983	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG02257.hp2 HG02717.hp2 others(4): Show HG01943.hp2 HG02257.hp2 HG02717.hp2 HG02809.hp1 HG02965.hp2 HG03130.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0017 a0001c0001t0025 a0001c0001t0039 others(2): Show a0001c0001t0017 a0001c0001t0025 a0001c0001t0039 a0001c0001t0040 a0001c0007t0017	a0001c0001t0017g0035 a0001c0001t0017g0038 a0001c0001t0025g0036 others(4): Show a0001c0001t0017g0035 a0001c0001t0017g0038 a0001c0001t0025g0036 a0001c0001t0025g0039 a0001c0001t0039g0041 a0001c0001t0040g0042 a0001c0007t0017g0040	7	342	0.0205	-21	c.-19 others(32): Show c.-1999_-1979delGTGTGTGTGTGTGTGTGTGTG		ALDH2	ENSG00000111275.13	transcript	ENST00000261733.7	protein_coding					1949		chr12	TogoVar
ALDH3B2_chr11_67657155_67679623	67670044	GGGTGTCT others(14): Show GGGTGTCTCTATGTGTATGGGT	G G	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0184 a0002c0002t0022g0184	1	390	0.0026	-21	c.-24 others(40): Show c.-244-2430_-244-2410delACCCATACACATAGAGACACC		ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	1/9						chr11	TogoVar
ALDOA_chr16_30060760_30075414	30065698	AGGAAAAA others(14): Show AGGAAAAAGCTCGGCGGAGGGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	370	0.0027	-21	c.-24 others(30): Show c.-242_-222delGGAAAAAGCTCGGCGGAGGGC		ALDOA	ENSG00000149925.22	transcript	ENST00000642816.3	protein_coding					61		chr16	TogoVar
ALG9_chr11_111777195_111876581	111812670	ACTTTGGG others(14): Show ACTTTGGGAGGCCGAGGCAGGT	A A	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0237 a0001c0001t0003g0237	1	314	0.0032	-21	c.160 others(40): Show c.1603-2918_1603-2898delACCTGCCTCGGCCTCCCAAAG		ALG9	ENSG00000086848.15	transcript	ENST00000616540.5	protein_coding	13/14						chr11	TogoVar
ALKBH4_chr7_102451238_102469863	102464284	CCTGGGTT others(14): Show CCTGGGTTGCAGCGATCCTTGA	C C	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	404	0.0025	-21	c.123 others(36): Show c.123+409_123+429delTCAAGGATCGCTGCAACCCAG		ALKBH4	ENSG00000160993.4	transcript	ENST00000292566.4	protein_coding	1/2						chr7	TogoVar
ALKBH4_chr7_102451238_102469863	102466760	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	404	0.0025	-21	c.-19 others(32): Show c.-1945_-1925delAAAAAAAAAAAAAAAAAAAAA		ALKBH4	ENSG00000160993.4	transcript	ENST00000292566.4	protein_coding					1898		chr7	TogoVar
ALKBH5_chr17_18178828_18214954	18201782	GATAGGAT others(14): Show GATAGGATAGATAAGATAGATA	G G	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02135.hp2 HG02258.hp1 HG02132.hp1 HG02135.hp2 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0007 a0001c0002t0004 a0001c0002t0007	a0001c0002t0004g0157 a0001c0002t0007g0119 a0001c0002t0007g0120 a0001c0002t0004g0157 a0001c0002t0007g0119 a0001c0002t0007g0120	3	418	0.0072	-21	c.852 others(38): Show c.852-5032_852-5012delATAGGATAGATAAGATAGATA		ALKBH5	ENSG00000091542.9	transcript	ENST00000399138.5	protein_coding	2/3						chr17	TogoVar
ALK_chr2_29187774_29926586	29830713	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA20300.hp2 HG03209.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0047 a0001c0006 a0002c0047	a0001c0006t0007 a0002c0047t0001 a0001c0006t0007 a0002c0047t0001	a0001c0006t0007g0056 a0002c0047t0001g0055 a0001c0006t0007g0056 a0002c0047t0001g0055	2	80	0.0250	-21	c.667 others(40): Show c.667+89259_667+89279delTTTTTTTTTTTTTTTTTTTTT		ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28						chr2	TogoVar
ALK_chr2_29187774_29926586	29830955	AAAGAAGA others(14): Show AAAGAAGAAGAAGAAGAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0005 a0001c0037t0005	a0001c0037t0005g0028 a0001c0037t0005g0028	1	80	0.0125	-21	c.667 others(40): Show c.667+89017_667+89037delCTTCTTCTTCTTCTTCTTCTT		ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28						chr2	TogoVar
ALK_chr2_29187774_29926586	29831093	GAGGAGGA others(14): Show GAGGAGGAGGAGGAGGAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0005 a0001c0020t0005	a0001c0020t0005g0005 a0001c0020t0005g0005	1	80	0.0125	-21	c.667 others(40): Show c.667+88879_667+88899delTCTTCTCCTCCTCCTCCTCCT		ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28						chr2	TogoVar
ALOXE3_chr17_8090900_8123514	8107959	AAGGAAGG others(14): Show AAGGAAGGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00642.hp1 NA18963.hp2 others(2): Show HG00408.hp2 HG00642.hp1 NA18963.hp2 NA18973.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0291 a0001c0002t0001g0046 a0001c0002t0001g0287 others(2): Show a0001c0001t0002g0291 a0001c0002t0001g0046 a0001c0002t0001g0287 a0001c0002t0001g0296 a0001c0002t0001g0330	5	422	0.0119	-21	c.168 others(38): Show c.1684+488_1684+508delCTCTCTCTCTCTCTCCTTCCT		ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15						chr17	TogoVar
ALPK2_chr18_58476247_58634091	58559393	CTGCCCCA others(14): Show CTGCCCCAGCTACAACATCCTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG01069.hp1 others(42): Show HG00140.hp1 HG00642.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01167.hp1 HG01243.hp1 HG01433.hp1 HG01515.hp1 HG01884.hp2 HG02055.hp1 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp2 HG02735.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp2 HG03834.hp1 HG06807.hp2 NA18522.hp2 NA19030.hp2 NA19240.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0006 others(15): Show a0001 a0002 a0006 a0008 a0009 a0012 a0021 a0022 a0024 a0027 a0032 a0034 a0035 a0051 a0053 a0054 a0058 a0062	a0001c0001 a0001c0006 a0002c0002 others(21): Show a0001c0001 a0001c0006 a0002c0002 a0002c0014 a0006c0024 a0006c0034 a0008c0035 a0008c0041 a0009c0008 a0012c0023 a0012c0092 a0012c0093 a0021c0033 a0022c0022 a0024c0025 a0027c0058 a0032c0076 a0034c0037 a0035c0036 a0051c0049 a0053c0074 a0054c0072 a0058c0094 a0062c0077	a0001c0001t0001 a0001c0006t0002 a0001c0006t0003 others(32): Show a0001c0001t0001 a0001c0006t0002 a0001c0006t0003 a0001c0006t0009 a0001c0006t0011 a0002c0002t0003 a0002c0014t0001 a0002c0014t0020 a0006c0024t0001 a0006c0024t0005 a0006c0024t0013 a0006c0034t0004 a0008c0035t0006 a0008c0035t0008 a0008c0041t0001 a0008c0041t0003 a0009c0008t0003 a0012c0023t0001 a0012c0023t0013 a0012c0092t0003 a0012c0093t0001 a0021c0033t0008 a0022c0022t0004 a0024c0025t0010 a0024c0025t0014 a0027c0058t0012 a0032c0076t0010 a0034c0037t0014 a0035c0036t0003 a0035c0036t0013 a0051c0049t0004 a0053c0074t0001 a0054c0072t0003 a0058c0094t0005 a0062c0077t0005	a0001c0001t0001g0217 a0001c0006t0002g0044 a0001c0006t0002g0047 others(42): Show a0001c0001t0001g0217 a0001c0006t0002g0044 a0001c0006t0002g0047 a0001c0006t0002g0048 a0001c0006t0003g0214 a0001c0006t0009g0043 a0001c0006t0009g0045 a0001c0006t0011g0116 a0002c0002t0003g0129 a0002c0002t0003g0130 a0002c0014t0001g0249 a0002c0014t0020g0089 a0006c0024t0001g0271 a0006c0024t0005g0279 a0006c0024t0013g0090 a0006c0034t0004g0153 a0006c0034t0004g0247 a0008c0035t0006g0058 a0008c0035t0008g0149 a0008c0041t0001g0136 a0008c0041t0003g0135 a0009c0008t0003g0314 a0012c0023t0001g0137 a0012c0023t0013g0092 a0012c0092t0003g0320 a0012c0093t0001g0140 a0021c0033t0008g0160 a0021c0033t0008g0287 a0022c0022t0004g0138 a0022c0022t0004g0145 a0022c0022t0004g0150 a0024c0025t0010g0110 a0024c0025t0014g0109 a0024c0025t0014g0111 a0027c0058t0012g0093 a0032c0076t0010g0114 a0034c0037t0014g0106 a0034c0037t0014g0108 a0035c0036t0003g0319 a0035c0036t0013g0107 a0051c0049t0004g0248 a0053c0074t0001g0162 a0054c0072t0003g0161 a0058c0094t0005g0315 a0062c0077t0005g0272	45	320	0.1406	-21	c.196 others(42): Show c.1962+19400_1962+19420delAAGGATGTTGTAGCTGGGGCA		ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12						chr18	TogoVar
AMBRA1_chr11_46391414_46599023	46400473	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	160	0.0063	-21	c.340 others(40): Show c.3404-2551_3404-2531delAAAAAAAAAAAAAAAAAAAAA		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	17/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46552368	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0031 a0001c0009t0001g0031	1	160	0.0063	-21	c.-12 others(40): Show c.-120-3889_-120-3869delTTTTTTTTTTTTTTTTTTTTT		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46583662	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAACAAC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01261.hp1 HG01981.hp2 others(2): Show HG01074.hp2 HG01261.hp1 HG01981.hp2 HG03688.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0034 a0001c0001t0001g0073 a0001c0001t0001g0077 others(2): Show a0001c0001t0001g0034 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0005g0001 a0001c0001t0005g0002	5	160	0.0313	-21	c.-12 others(42): Show c.-121+10145_-121+10165delGTTGTTTTTTTTTTTTTTTTT		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46595535	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01081.hp2 HG01192.hp2 others(10): Show HG01070.hp2 HG01081.hp2 HG01192.hp2 HG01496.hp2 HG02004.hp2 HG02109.hp1 HG02602.hp1 HG03654.hp2 NA18942.hp2 NA18960.hp1 NA18972.hp2 NA19010.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 others(10): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0106 a0001c0001t0001g0139	13	160	0.0813	-21	c.-18 others(32): Show c.-1849_-1829delTTTTTTTTTTTTTTTTTTTTT		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding					1513		chr11	TogoVar
AMH_chr19_2244323_2257073	2248057	TCCCCCAG others(14): Show TCCCCCAGCTCCTGGCGTCCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01069.hp2 HG01346.hp2 others(8): Show HG00738.hp1 HG01069.hp2 HG01346.hp2 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02293.hp2 HG02738.hp1 HG03139.hp1 NA18985.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0003 a0001c0001 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0005t0001 a0002c0003t0001 a0001c0001t0001 a0001c0005t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0005t0001g0001 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0005t0001g0001 a0002c0003t0001g0017	11	432	0.0255	-21	c.-12 others(32): Show c.-1275_-1255delCCCCCAGCTCCTGGCGTCCAC		AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding					1265		chr19	TogoVar
AMH_chr19_2244323_2257073	2248165	TCCAGCCC others(14): Show TCCAGCCCCCGGGGTTCACCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	432	0.0023	-21	c.-11 others(32): Show c.-1167_-1147delCCAGCCCCCGGGGTTCACCCA		AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding					1157		chr19	TogoVar
AMH_chr19_2244323_2257073	2253751	GGCGCGGT others(14): Show GGCGCGGTCTGCGCCTTCTTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02818.hp1 HG03579.hp2 HG02630.hp2 HG02818.hp1 HG03579.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0002 a0001c0005t0001g0002	3	432	0.0069	-21	c.17 others(32): Show c.1795_*1815delGCGCGGTCTGCGCCTTCTTGC		AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding					1679		chr19	TogoVar
AMIGO1_chr1_109499178_109514727	109511254	AAAAAGAA others(14): Show AAAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02809.hp1 HG03471.hp1 HG01891.hp1 HG02809.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	400	0.0075	-21	c.-19 others(32): Show c.-1943_-1923delCTTTCTTTCTTTCTTTCTTTT		AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding					1528		chr1	TogoVar
AMZ1_chr7_2683202_2724683	2696186	CCCACTTT others(14): Show CCCACTTTTCTGAGGGTTAAAG	C C	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0007 a0003c0006t0007	a0003c0006t0007g0410 a0003c0006t0007g0410	1	438	0.0023	-21	c.-21 others(40): Show c.-218-4046_-218-4026delCACTTTTCTGAGGGTTAAAGC		AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr7	TogoVar
ANAPC10_chr4_144989576_145103196	145095367	TCACTTTG others(14): Show TCACTTTGTCCAGCACATCCAC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0335	1	336	0.0030	-21	c.115 others(36): Show c.115+597_115+617delGTGGATGTGCTGGACAAAGTG		ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	2/4						chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145100580	AAGTTGTC others(14): Show AAGTTGTCATTTCCCGAATAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02723.hp2 HG01243.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0008 a0001c0001t0006g0009 a0001c0001t0006g0008 a0001c0001t0006g0009	2	336	0.0060	-21	c.-24 others(32): Show c.-2494_-2474delATTATTCGGGAAATGACAACT		ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding					2385		chr4	TogoVar

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