Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GALNS_chr16_88808734_88861947	88834643	C C	CCGCGTGG others(28): Show CCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCCG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0177 a0001c0002t0008g0177	1	404	0.0025	35	c.898 others(50): Show c.898+569_898+570insCGGGGGGGCCCTGCAGCCTCTTCCCAGACC ACGCG	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	8/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88859959	C C	CGCATCCA others(28): Show CGCATCCAGTCCAGGTGGGCCCTACTTTCTGTGTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01175.hp1 HG02055.hp1 others(4): Show HG01167.hp2 HG01175.hp1 HG02055.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp1 NA19030.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0002c0003 others(1): Show a0001c0001 a0001c0004 a0002c0003 a0004c0005	a0001c0001t0001 a0001c0004t0009 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0004t0009 a0002c0003t0001 a0004c0005t0001	a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0004t0009g0162 others(4): Show a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0004t0009g0162 a0001c0004t0009g0163 a0002c0003t0001g0157 a0004c0005t0001g0133 a0004c0005t0001g0251	7	404	0.0173	35	c.-31 others(46): Show c.-3117_-3083dupAGACACAGAAAGTAGGGCCCACCTGGACTGGATG C	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding		3013		chr16	TogoVar
GALNS_chr16_88808734_88861947	88859980	C C	CTACTTTC others(28): Show CTACTTTCTGTGTCTGCATCCAGTCCAGGTGGGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02145.hp2 others(15): Show HG01891.hp2 HG02109.hp1 HG02145.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03516.hp1 NA21309.hp2	a0003 a0004 a0005 others(1): Show a0003 a0004 a0005 a0007	a0003c0006 a0003c0007 a0004c0005 others(2): Show a0003c0006 a0003c0007 a0004c0005 a0005c0012 a0007c0009	a0003c0006t0001 a0003c0007t0004 a0004c0005t0001 others(2): Show a0003c0006t0001 a0003c0007t0004 a0004c0005t0001 a0005c0012t0001 a0007c0009t0003	a0003c0006t0001g0015 a0003c0006t0001g0017 a0003c0006t0001g0022 others(15): Show a0003c0006t0001g0015 a0003c0006t0001g0017 a0003c0006t0001g0022 a0003c0006t0001g0064 a0003c0006t0001g0065 a0003c0006t0001g0113 a0003c0007t0004g0026 a0003c0007t0004g0114 a0004c0005t0001g0166 a0005c0012t0001g0018 a0005c0012t0001g0019 a0005c0012t0001g0020 a0005c0012t0001g0021 a0007c0009t0003g0107 a0007c0009t0003g0109 a0007c0009t0003g0110 a0007c0009t0003g0111 a0007c0009t0003g0112	18	404	0.0446	35	c.-31 others(46): Show c.-3104_-3103insAGGCCCACCTGGACTGGATGCAGACACAGAAAGT A	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding		3034		chr16	TogoVar
GALNT17_chr7_71127144_71718599	71680342	C C	CTCTTCCT others(28): Show CTCTTCCTCCCTCCCTCTCTCCCTTCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	76	0.0132	35	c.150 others(54): Show c.1500+3061_1500+3062insTCCCTCCCTTTCTTCCTCCCTCCCTC TCTCCCTTC	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT2_chr1_230062238_230287122	230175601	G G	GTCCTCCT others(28): Show GTCCTCCTCCTCCTCCTCCTCCCCCTCCCTCTCCCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00609.hp2 others(90): Show HG00423.hp1 HG00438.hp2 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG01106.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01255.hp2 HG01261.hp1 HG01515.hp2 HG01891.hp2 HG02040.hp1 HG02055.hp2 HG02145.hp2 HG02257.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18959.hp2 NA18962.hp2 NA18965.hp2 NA18967.hp1 NA18982.hp1 NA18983.hp2 NA18986.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp2 NA19043.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19077.hp2 NA19079.hp1 NA19084.hp2 NA19087.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0002c0004 a0002c0007 a0005c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(36): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0021 a0001c0001t0036 a0001c0001t0043 a0001c0001t0046 a0001c0001t0050 a0001c0001t0054 a0001c0001t0056 a0001c0001t0061 a0001c0001t0064 a0001c0001t0068 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0026 a0001c0002t0031 a0001c0002t0032 a0001c0003t0001 a0001c0003t0003 a0001c0003t0006 a0001c0003t0011 a0001c0003t0055 a0001c0003t0066 a0001c0006t0016 a0001c0008t0012 a0001c0009t0052 a0001c0010t0011 a0002c0004t0002 a0002c0004t0040 a0002c0007t0002 a0005c0015t0027	a0001c0001t0001g0151 a0001c0001t0001g0292 a0001c0001t0001g0308 others(90): Show a0001c0001t0001g0151 a0001c0001t0001g0292 a0001c0001t0001g0308 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0003g0025 a0001c0001t0003g0116 a0001c0001t0003g0119 a0001c0001t0003g0203 a0001c0001t0003g0283 a0001c0001t0003g0316 a0001c0001t0004g0020 a0001c0001t0004g0121 a0001c0001t0004g0142 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0215 a0001c0001t0005g0211 a0001c0001t0007g0129 a0001c0001t0007g0183 a0001c0001t0008g0256 a0001c0001t0008g0298 a0001c0001t0008g0305 a0001c0001t0009g0206 a0001c0001t0013g0016 a0001c0001t0013g0017 a0001c0001t0013g0101 a0001c0001t0013g0260 a0001c0001t0013g0309 a0001c0001t0015g0014 a0001c0001t0015g0043 a0001c0001t0015g0282 a0001c0001t0021g0275 a0001c0001t0021g0311 a0001c0001t0036g0015 a0001c0001t0043g0045 a0001c0001t0046g0324 a0001c0001t0050g0168 a0001c0001t0054g0268 a0001c0001t0056g0028 a0001c0001t0061g0104 a0001c0001t0064g0087 a0001c0001t0068g0267 a0001c0002t0001g0010 a0001c0002t0001g0019 a0001c0002t0001g0031 a0001c0002t0001g0055 a0001c0002t0001g0123 a0001c0002t0001g0162 a0001c0002t0001g0170 a0001c0002t0001g0176 a0001c0002t0001g0228 a0001c0002t0001g0281 a0001c0002t0004g0070 a0001c0002t0005g0136 a0001c0002t0026g0195 a0001c0002t0031g0222 a0001c0002t0032g0220 a0001c0003t0001g0037 a0001c0003t0001g0098 a0001c0003t0001g0111 a0001c0003t0001g0197 a0001c0003t0001g0238 a0001c0003t0003g0304 a0001c0003t0006g0049 a0001c0003t0006g0053 a0001c0003t0006g0251 a0001c0003t0011g0200 a0001c0003t0011g0255 a0001c0003t0011g0290 a0001c0003t0011g0291 a0001c0003t0011g0307 a0001c0003t0055g0219 a0001c0003t0066g0072 a0001c0006t0016g0002 a0001c0006t0016g0003 a0001c0006t0016g0004 a0001c0008t0012g0303 a0001c0009t0052g0254 a0001c0010t0011g0299 a0002c0004t0002g0001 a0002c0004t0002g0076 a0002c0004t0002g0133 a0002c0004t0002g0154 a0002c0004t0002g0205 a0002c0004t0002g0231 a0002c0004t0002g0235 a0002c0004t0002g0249 a0002c0004t0040g0118 a0002c0007t0002g0075 a0002c0007t0002g0077 a0002c0007t0002g0226 a0005c0015t0027g0310	93	324	0.2870	35	c.127 others(52): Show c.127-2605_127-2604insTCCTCCTCCCCCTCCCTCTCCCCTCCTC CTCCTCC	GALNT2	ENSG00000143641.10	transcript	ENST00000366672.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
GALNT2_chr1_230062238_230287122	230275096	T T	TGTATACA others(28): Show TGTATACACACCACATATATATACATATATATACAC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0227 a0002c0004t0002g0227	1	324	0.0031	35	c.156 others(52): Show c.1560+533_1560+567dupGTATACACACCACATATATATACATATA TATACAC	GALNT2	ENSG00000143641.10	transcript	ENST00000366672.5	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
GALNT7_chr4_173163811_173328967	173288282	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	266	0.0038	35	c.588 others(52): Show c.588-3803_588-3802insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172156559	A A	ATATACTA others(28): Show ATATACTATATATATATACTATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0020 a0001c0001t0006g0020	1	40	0.0250	35	c.139 others(54): Show c.139-73093_139-73092insCTATATATATATACTATATATATATA TATACTATA	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172606630	C C	CTATATAT others(28): Show CTATATATATACTATATATATAGTATATATATACTA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03139.hp1 HG03130.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0006g0020 a0001c0002t0001g0016 a0001c0001t0006g0020 a0001c0002t0001g0016	2	40	0.0500	35	c.554 others(56): Show c.554-202698_554-202664dupCTATATATATATACTATATATATA GTATATATATA	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GAP43_chr3_115618510_115726483	115672732	C C	CCCTCTCC others(28): Show CCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	352	0.0028	35	c.31- others(50): Show c.31-3277_31-3243dupCTCCTCTCCTCTCCTCTCCTCTCCTCTCCT CTCCT	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
GAP43_chr3_115618510_115726483	115698247	A A	ATTATATA others(28): Show ATTATATATATAATATATATAAAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00609.hp2 others(28): Show HG00438.hp2 HG00544.hp1 HG00609.hp2 HG00673.hp2 HG01496.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02004.hp2 HG02083.hp2 HG02129.hp1 HG02148.hp1 HG02523.hp1 NA18747.hp2 NA18906.hp2 NA18954.hp1 NA18968.hp2 NA18971.hp1 NA18983.hp1 NA18986.hp2 NA18990.hp2 NA19010.hp1 NA19011.hp1 NA19066.hp1 NA19072.hp1 NA19077.hp1 NA19090.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015	a0001c0001t0001g0165 a0001c0001t0002g0270 a0001c0001t0002g0294 others(28): Show a0001c0001t0001g0165 a0001c0001t0002g0270 a0001c0001t0002g0294 a0001c0001t0003g0023 a0001c0001t0004g0025 a0001c0001t0004g0054 a0001c0001t0004g0059 a0001c0001t0004g0130 a0001c0001t0004g0137 a0001c0001t0004g0141 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0200 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0282 a0001c0001t0004g0287 a0001c0001t0004g0309 a0001c0001t0004g0333 a0001c0001t0015g0154	31	352	0.0881	35	c.628 others(54): Show c.628+21637_628+21638insTTATATATATAATATATATAAAATAT ATATTATAT	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2			chr3	TogoVar
GAP43_chr3_115618510_115726483	115698287	A A	AATATATA others(28): Show AATATATATATATTATATATAAAATATATATAATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(184): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02145.hp2 HG02258.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18943.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18990.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19074.hp1 NA19080.hp2 NA19081.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0002t0001 a0001c0002t0017	a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0041 others(183): Show a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0110 a0001c0001t0001g0121 a0001c0001t0001g0135 a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0232 a0001c0001t0001g0238 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0326 a0001c0001t0001g0338 a0001c0001t0001g0346 a0001c0001t0001g0350 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0018 a0001c0001t0002g0026 a0001c0001t0002g0032 a0001c0001t0002g0045 a0001c0001t0002g0057 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0158 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0178 a0001c0001t0002g0184 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0208 a0001c0001t0002g0211 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0231 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0252 a0001c0001t0002g0255 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0271 a0001c0001t0002g0276 a0001c0001t0002g0281 a0001c0001t0002g0286 a0001c0001t0002g0289 a0001c0001t0002g0293 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0334 a0001c0001t0002g0337 a0001c0001t0002g0351 a0001c0001t0003g0001 a0001c0001t0003g0009 a0001c0001t0003g0016 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0062 a0001c0001t0003g0071 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0078 a0001c0001t0003g0113 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0162 a0001c0001t0003g0188 a0001c0001t0003g0195 a0001c0001t0003g0206 a0001c0001t0003g0214 a0001c0001t0003g0241 a0001c0001t0003g0266 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0279 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0288 a0001c0001t0003g0301 a0001c0001t0003g0303 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0004g0030 a0001c0001t0004g0109 a0001c0001t0004g0189 a0001c0001t0004g0280 a0001c0001t0005g0096 a0001c0001t0005g0097 a0001c0001t0006g0034 a0001c0001t0006g0114 a0001c0001t0006g0149 a0001c0001t0007g0029 a0001c0001t0007g0175 a0001c0001t0007g0275 a0001c0001t0008g0235 a0001c0001t0008g0236 a0001c0001t0009g0077 a0001c0001t0009g0187 a0001c0001t0011g0075 a0001c0001t0012g0300 a0001c0001t0014g0250 a0001c0001t0018g0335 a0001c0002t0001g0095 a0001c0002t0001g0098 a0001c0002t0001g0285 a0001c0002t0017g0314	187	352	0.5313	35	c.628 others(54): Show c.628+21687_628+21688insATTATATATAAAATATATATAATATA TATATATAT	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
GARRE1_chr19_34249554_34360566	34340438	T T	TTTTTCTT others(28): Show TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02965.hp2 HG03209.hp1 HG01993.hp2 HG02965.hp2 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0008 a0001c0002t0003 a0001c0003t0008	a0001c0002t0003g0158 a0001c0002t0003g0166 a0001c0003t0008g0079 a0001c0002t0003g0158 a0001c0002t0003g0166 a0001c0003t0008g0079	3	326	0.0092	35	c.148 others(52): Show c.1487+448_1487+482dupTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCT	GARRE1	ENSG00000166398.14	transcript	ENST00000299505.8	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
GAS8_chr16_90017680_90049960	90042843	A A	AAACAGAC others(28): Show AAACAGACGTCATTCAACAGGGGAAGGGAGGGCGTG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0015 a0001c0016t0015	a0001c0016t0015g0314 a0001c0016t0015g0314	1	390	0.0026	35	c.128 others(52): Show c.1287+311_1288-316dupCAGACGTCATTCAACAGGGGAAGGGAGG GCGTGAA	GAS8	ENSG00000141013.17	transcript	ENST00000268699.9	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
GATA5_chr20_62458497_62480995	62471432	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG01168.hp2 others(10): Show HG00140.hp1 HG00408.hp1 HG01168.hp2 HG02300.hp1 HG03654.hp1 HG04199.hp2 NA18942.hp1 NA18948.hp2 NA18978.hp2 NA18986.hp1 NA19079.hp2 NA19088.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0015 a0001c0002 a0002c0015	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(4): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0011 a0002c0015t0006	a0001c0002t0001g0007 a0001c0002t0001g0134 a0001c0002t0002g0114 others(7): Show a0001c0002t0001g0007 a0001c0002t0001g0134 a0001c0002t0002g0114 a0001c0002t0002g0135 a0001c0002t0002g0194 a0001c0002t0004g0110 a0001c0002t0005g0111 a0001c0002t0006g0112 a0001c0002t0011g0113 a0002c0015t0006g0229	13	382	0.0340	35	c.699 others(52): Show c.699+1970_699+1971insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding	3/6			chr20	TogoVar
GATA5_chr20_62458497_62480995	62477138	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01192.hp1 HG02071.hp1 others(3): Show HG00544.hp2 HG01192.hp1 HG02071.hp1 HG03669.hp2 HG04228.hp1 NA20129.hp2	a0002 a0002	a0002c0005 a0002c0006 a0002c0009 others(2): Show a0002c0005 a0002c0006 a0002c0009 a0002c0020 a0002c0031	a0002c0005t0001 a0002c0006t0001 a0002c0009t0038 others(2): Show a0002c0005t0001 a0002c0006t0001 a0002c0009t0038 a0002c0020t0001 a0002c0031t0007	a0002c0005t0001g0035 a0002c0005t0001g0236 a0002c0006t0001g0238 others(3): Show a0002c0005t0001g0035 a0002c0005t0001g0236 a0002c0006t0001g0238 a0002c0009t0038g0257 a0002c0020t0001g0240 a0002c0031t0007g0254	6	382	0.0157	35	c.-12 others(46): Show c.-1231_-1230insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA A	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1144		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477138	T T	TTTCTTTC others(28): Show TTTCTTTCTTTTTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0226 a0002c0006t0004g0226	1	382	0.0026	35	c.-12 others(46): Show c.-1231_-1230insGAAAGAAAGAAAGAAAGAAAGAAAAAAAGAAAGA A	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1144		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477251	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	382	0.0026	35	c.-13 others(46): Show c.-1344_-1343insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA A	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1257		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477259	T T	TTTCCTTT others(28): Show TTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	382	0.0026	35	c.-13 others(46): Show c.-1352_-1351insGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGA A	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1265		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477303	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0274 a0001c0004t0007g0274	1	382	0.0026	35	c.-13 others(46): Show c.-1396_-1395insGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGA A	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1309		chr20	TogoVar
GCFC2_chr2_75657705_75715915	75672177	A A	ATTTATAA others(28): Show ATTTATAAAATATATATTTATATATTTATAAATATG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0018 a0018	a0018c0021 a0018c0021	a0018c0021t0007 a0018c0021t0007	a0018c0021t0007g0161 a0018c0021t0007g0161	1	404	0.0025	35	c.189 others(52): Show c.1890-196_1890-162dupCATATTTATAAATATATAAATATATATT TTATAAA	GCFC2	ENSG00000005436.14	transcript	ENST00000321027.8	protein_coding	13/16			chr2	TogoVar
GCNT2_chr6_10516351_10634368	10534139	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	324	0.0031	35	c.925 others(52): Show c.925+4304_925+4305insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10563777	A A	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	324	0.0031	35	c.925 others(54): Show c.925+33942_925+33943insATATATATATATATATATATATATAT ATATATATA	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10582242	A A	AAAATATA others(28): Show AAAATATATATAATATATACTATATATTAAATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01361.hp1 HG02257.hp2 others(8): Show HG01346.hp2 HG01361.hp1 HG02257.hp2 HG02258.hp1 HG02486.hp1 HG02559.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03491.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010	a0001c0001t0001g0022 a0001c0001t0001g0046 a0001c0001t0001g0062 others(8): Show a0001c0001t0001g0022 a0001c0001t0001g0046 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0306 a0001c0001t0002g0258 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0239 a0001c0001t0010g0240 a0001c0001t0010g0242	11	324	0.0340	35	c.926 others(54): Show c.926-39093_926-39059dupATACTATATATTAAATATATAAATAT ATATAATAT	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10563777	A A	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	344	0.0029	35	c.919 others(52): Show c.919+6436_919+6437insATATATATATATATATATATATATATAT ATATATA	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10569274	C C	CACACACA others(28): Show CACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	344	0.0029	35	c.919 others(54): Show c.919+11932_919+11933insACACACACACACACACACACACACAC ACACACACA	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2			chr6	TogoVar
GCNT2_chr6_10550809_10634368	10582242	A A	AAAATATA others(28): Show AAAATATATATAATATATACTATATATTAAATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01361.hp2 HG02257.hp2 others(8): Show HG01346.hp2 HG01361.hp2 HG02257.hp2 HG02258.hp1 HG02486.hp1 HG02559.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03491.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0049 a0001c0001t0001g0116 a0001c0001t0001g0294 others(7): Show a0001c0001t0001g0049 a0001c0001t0001g0116 a0001c0001t0001g0294 a0001c0001t0002g0054 a0001c0001t0004g0274 a0001c0001t0004g0275 a0001c0001t0004g0277 a0001c0001t0006g0001 a0001c0002t0001g0278 a0001c0002t0001g0279	11	344	0.0320	35	c.919 others(54): Show c.919+24916_919+24950dupATACTATATATTAAATATATAAATAT ATATAATAT	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT4_chr5_75020346_75057558	75034898	G G	GCACCCCA others(28): Show GCACCCCAGCTAAGCGGACACGACCGCATTCAGGGA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02109.hp2 HG02615.hp2 others(1): Show HG00733.hp2 HG02109.hp2 HG02615.hp2 NA19054.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0014 a0002c0002t0002 a0002c0002t0014	a0002c0002t0002g0128 a0002c0002t0014g0108 a0002c0002t0014g0270 others(1): Show a0002c0002t0002g0128 a0002c0002t0014g0108 a0002c0002t0014g0270 a0002c0002t0014g0271	4	382	0.0105	35	c.-1- others(50): Show c.-1-4895_-1-4861dupTCCCTGAATGCGGTCGTGTCCGCTTAGCTG GGGTG	GCNT4	ENSG00000176928.7	transcript	ENST00000652361.2	protein_coding	3/3			chr5	TogoVar
GCSH_chr16_81076945_81101395	81080667	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	354	0.0028	35	c.21 others(46): Show c.2198_*2199insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	GCSH	ENSG00000140905.11	transcript	ENST00000315467.9	protein_coding		1277		chr16	TogoVar
GDF6_chr8_96137333_96165806	96144291	A A	AGAGAGAG others(28): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0056 a0001c0002t0056	a0001c0002t0056g0260 a0001c0002t0056g0260	1	368	0.0027	35	c.27 others(44): Show c.271_*272insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	GDF6	ENSG00000156466.11	transcript	ENST00000287020.7	protein_coding	2/2	271		chr8	TogoVar
GET4_chr7_871554_901436	890415	C C	CGGGGTCT others(28): Show CGGGGTCTGGGAGTGGAGGGAGCGAGAGTGGGTGTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0050 a0001c0002t0006g0050	1	384	0.0026	35	c.467 others(50): Show c.467-510_467-509insGTCTGGGAGTGGAGGGAGCGAGAGTGGGTG TTGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	893172	T T	TTGCAGGT others(28): Show TTGCAGGTGAGTGTTGGGCGCGGGCGCGGTGGTGTG	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19086.hp1 NA18982.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0231 a0001c0001t0001g0219 a0001c0001t0001g0231	2	384	0.0052	35	c.747 others(50): Show c.747-548_747-514dupCGGGCGCGGTGGTGTGTGCAGGTGAGTGTT GGGCG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	893233	T T	TGGTGGTG others(28): Show TGGTGGTGTGTGCAGGTGAGTGTTGGGCGCGGGCGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02896.hp2 HG03239.hp1 others(1): Show HG02258.hp1 HG02896.hp2 HG03239.hp1 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0009 a0001c0005 a0001c0006 a0001c0009	a0001c0005t0011 a0001c0006t0002 a0001c0009t0001 a0001c0005t0011 a0001c0006t0002 a0001c0009t0001	a0001c0005t0011g0277 a0001c0005t0011g0291 a0001c0006t0002g0276 others(1): Show a0001c0005t0011g0277 a0001c0005t0011g0291 a0001c0006t0002g0276 a0001c0009t0001g0268	4	384	0.0104	35	c.747 others(50): Show c.747-437_747-403dupCGGTGGTGTGTGCAGGTGAGTGTTGGGCGC GGGCG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	893268	C C	CGGTGGTG others(28): Show CGGTGGTGTGTGCAGGTGAGTGTTGGGCGTGGGCGT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	384	0.0026	35	c.747 others(50): Show c.747-444_747-443insTGGGCGTGGTGGTGTGTGCAGGTGAGTGTT GGGCG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	893347	T T	TTGCAGGT others(28): Show TTGCAGGTGAGTGTTGGGCGCGGGCGCGGTGGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00558.hp1 others(50): Show HG00323.hp1 HG00408.hp1 HG00558.hp1 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG01069.hp2 HG01074.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01928.hp2 HG01943.hp1 HG01978.hp2 HG01981.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02135.hp1 HG02273.hp2 HG02615.hp1 HG02738.hp1 HG02896.hp1 HG03491.hp1 HG03492.hp1 HG03579.hp2 HG03704.hp1 HG04184.hp2 NA18747.hp2 NA18946.hp2 NA18950.hp2 NA18953.hp1 NA18954.hp2 NA18959.hp1 NA18973.hp1 NA18979.hp1 NA18987.hp2 NA19002.hp1 NA19009.hp1 NA19011.hp2 NA19055.hp1 NA19058.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19074.hp1 NA19079.hp2 NA19081.hp2 NA19088.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0016 a0001c0017 others(1): Show a0001c0002 a0001c0016 a0001c0017 a0003c0018	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(10): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0019 a0001c0002t0020 a0001c0002t0021 a0001c0002t0030 a0001c0002t0035 a0001c0016t0001 a0001c0017t0002 a0003c0018t0002	a0001c0002t0001g0025 a0001c0002t0001g0027 a0001c0002t0001g0100 others(45): Show a0001c0002t0001g0025 a0001c0002t0001g0027 a0001c0002t0001g0100 a0001c0002t0001g0105 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0124 a0001c0002t0001g0130 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0295 a0001c0002t0002g0007 a0001c0002t0002g0011 a0001c0002t0002g0092 a0001c0002t0002g0099 a0001c0002t0002g0101 a0001c0002t0002g0104 a0001c0002t0002g0106 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0118 a0001c0002t0002g0121 a0001c0002t0002g0123 a0001c0002t0002g0131 a0001c0002t0002g0233 a0001c0002t0003g0025 a0001c0002t0003g0094 a0001c0002t0003g0095 a0001c0002t0003g0110 a0001c0002t0003g0111 a0001c0002t0003g0125 a0001c0002t0003g0128 a0001c0002t0003g0129 a0001c0002t0005g0023 a0001c0002t0005g0024 a0001c0002t0006g0050 a0001c0002t0019g0107 a0001c0002t0020g0098 a0001c0002t0021g0127 a0001c0002t0030g0007 a0001c0002t0035g0117 a0001c0016t0001g0027 a0001c0017t0002g0049 a0003c0018t0002g0007	53	384	0.1380	35	c.747 others(50): Show c.747-376_747-375insCGCGGGCGCGGTGGTGTGTGCAGGTGAGTG TTGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	897651	A A	AGGGGGCA others(28): Show AGGGGGCACCTGGGGAAGGGGGGGCACCTGGGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0157 a0001c0002t0001g0157	1	384	0.0026	35	c.22 others(46): Show c.2229_*2230insGGGGGCACCTGGGGAAGGGGGGGCACCTGGGGAA G	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding		1216		chr7	TogoVar
GET4_chr7_871554_901436	897667	A A	AGGGGGGC others(28): Show AGGGGGGCACCTGGGGAAGGGGGGCACCTGGGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0182 a0001c0001t0008g0182	1	384	0.0026	35	c.22 others(46): Show c.2245_*2246insGGGGGGCACCTGGGGAAGGGGGGCACCTGGGGAA G	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding		1232		chr7	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0252 a0001c0003t0002g0252	1	412	0.0024	35	c.41 others(46): Show c.4105_*4106insATATATATATATATATATTTTTTTTTTTTTTTTT T	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 NA18980.hp2 HG02717.hp2 NA18980.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0308 a0001c0003t0002g0320 a0001c0003t0002g0308 a0001c0003t0002g0320	2	412	0.0049	35	c.41 others(46): Show c.4105_*4106insATATATATATATATATATATTTTTTTTTTTTTTT T	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0274 a0001c0003t0002g0274	1	412	0.0024	35	c.41 others(46): Show c.4105_*4106insATATATATATATATATATATATTTTTTTTTTTTT T	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(28): Show AAAAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0015 a0001c0003t0002g0015	1	412	0.0024	35	c.41 others(46): Show c.4105_*4106insATATATATATATATATATATATATATTTTTTTTT T	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFRA1_chr10_116051925_116278206	116244362	T T	TTTAATAA others(28): Show TTTAATAATTAAAATTTAATTTTATTTCATTTAATG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp2 others(69): Show HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00621.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01516.hp1 HG01516.hp2 HG01981.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02257.hp1 HG02293.hp1 HG02451.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03490.hp1 HG03492.hp2 HG03579.hp1 HG03710.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18960.hp2 NA18962.hp1 NA18968.hp2 NA18969.hp1 NA18975.hp1 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18995.hp2 NA19000.hp1 NA19065.hp1 NA19070.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19083.hp2 NA19084.hp1 NA19087.hp2 NA19240.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0004 a0003c0006 a0004c0008 a0005c0009 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(60): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0020 a0001c0001t0038 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0051 a0001c0001t0052 a0001c0001t0057 a0001c0001t0064 a0001c0001t0066 a0001c0001t0069 a0001c0001t0087 a0001c0001t0090 a0001c0001t0098 a0001c0001t0105 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0014 a0001c0002t0017 a0001c0002t0021 a0001c0002t0033 a0001c0002t0055 a0001c0002t0056 a0001c0002t0058 a0001c0002t0065 a0001c0002t0067 a0001c0002t0073 a0001c0002t0076 a0001c0002t0079 a0001c0002t0081 a0001c0002t0083 a0001c0002t0089 a0001c0002t0129 a0001c0005t0046 a0001c0005t0050 a0001c0005t0068 a0002c0003t0008 a0002c0003t0011 a0002c0003t0012 a0002c0003t0034 a0002c0003t0039 a0002c0003t0062 a0002c0004t0054 a0002c0004t0084 a0003c0006t0023 a0004c0008t0009 a0005c0009t0086 a0007c0007t0002	a0001c0001t0001g0041 a0001c0001t0002g0029 a0001c0001t0003g0204 others(69): Show a0001c0001t0001g0041 a0001c0001t0002g0029 a0001c0001t0003g0204 a0001c0001t0007g0021 a0001c0001t0007g0025 a0001c0001t0008g0031 a0001c0001t0010g0179 a0001c0001t0010g0185 a0001c0001t0013g0194 a0001c0001t0015g0181 a0001c0001t0017g0211 a0001c0001t0020g0016 a0001c0001t0020g0030 a0001c0001t0038g0151 a0001c0001t0042g0205 a0001c0001t0043g0206 a0001c0001t0044g0209 a0001c0001t0051g0203 a0001c0001t0052g0195 a0001c0001t0057g0189 a0001c0001t0064g0154 a0001c0001t0066g0192 a0001c0001t0069g0202 a0001c0001t0087g0017 a0001c0001t0090g0007 a0001c0001t0098g0043 a0001c0001t0105g0042 a0001c0002t0001g0039 a0001c0002t0002g0013 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0037 a0001c0002t0003g0186 a0001c0002t0003g0188 a0001c0002t0003g0212 a0001c0002t0007g0022 a0001c0002t0009g0024 a0001c0002t0010g0180 a0001c0002t0011g0199 a0001c0002t0012g0208 a0001c0002t0014g0196 a0001c0002t0017g0191 a0001c0002t0021g0036 a0001c0002t0033g0044 a0001c0002t0055g0198 a0001c0002t0056g0197 a0001c0002t0058g0213 a0001c0002t0065g0201 a0001c0002t0067g0200 a0001c0002t0073g0034 a0001c0002t0076g0038 a0001c0002t0079g0014 a0001c0002t0081g0012 a0001c0002t0083g0015 a0001c0002t0089g0033 a0001c0002t0129g0051 a0001c0005t0046g0174 a0001c0005t0050g0176 a0001c0005t0068g0175 a0002c0003t0008g0023 a0002c0003t0011g0178 a0002c0003t0012g0193 a0002c0003t0034g0001 a0002c0003t0034g0040 a0002c0003t0039g0207 a0002c0003t0062g0190 a0002c0004t0054g0210 a0002c0004t0084g0032 a0003c0006t0023g0048 a0004c0008t0009g0004 a0005c0009t0086g0005 a0007c0007t0002g0003	72	214	0.3365	35	c.418 others(54): Show c.418+25106_418+25140dupCATTAAATGAAATAAAATTAAATTTT AATTATTAA	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	4/10			chr10	TogoVar
GFRA1_chr10_116051925_116278206	116244381	T T	TTTTATTT others(28): Show TTTTATTTCATTTAATGTTAATAATTAAAATTTAAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0133 a0002c0003t0001g0133	1	214	0.0047	35	c.418 others(54): Show c.418+25121_418+25122insGTTAAATTTTAATTATTAACATTAAA TGAAATAAA	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	4/10			chr10	TogoVar
GFRA2_chr8_21685398_21793875	21694075	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0131 a0002c0002t0002g0131	1	322	0.0031	35	c.127 others(52): Show c.1272+388_1272+389insTATATATATATATATATATATATATATA TATATAT	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	8/8			chr8	TogoVar
GHR_chr5_42418439_42726878	42576099	T T	TAAAATAA others(28): Show TAAAATAAAATAAAATAAAAAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0180 a0001c0001t0004g0180	1	210	0.0048	35	c.70+ others(52): Show c.70+10158_70+10159insATAAAATAAAATAAAAAAAATAAAATAA AATAAAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42576099	T T	TAAAATAA others(28): Show TAAAATAAAATAAAATAAAATAAAATAAAATAAATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0064 a0003c0003t0003g0064	1	210	0.0048	35	c.70+ others(52): Show c.70+10158_70+10159insATAAAATAAAATAAAATAAAATAAAATA AATAAAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42576099	T T	TAAAATAA others(28): Show TAAAATAAAATAAAATAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0060 a0001c0001t0014g0060	1	210	0.0048	35	c.70+ others(52): Show c.70+10158_70+10159insATAAAATAAAATAAATAAAATAAAATAA AATAAAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GJA10_chr6_89889469_89901120	89898084	T T	TCTTTCCT others(28): Show TCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	386	0.0026	35	c.19 others(46): Show c.1984_*1985insCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT C	GJA10	ENSG00000135355.4	transcript	ENST00000369352.1	protein_coding		1965		chr6	TogoVar
GK_chrX_30648423_30736462	30664065	T T	TTTTATAG others(28): Show TTTTATAGATATATATTTTATATATATCTATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG02809.hp2 others(4): Show HG01891.hp2 HG02109.hp2 HG02809.hp2 HG02818.hp2 HG02976.hp1 HG03540.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 others(1): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0015	a0001c0001t0005g0100 a0001c0001t0005g0203 a0001c0001t0007g0102 others(4): Show a0001c0001t0005g0100 a0001c0001t0005g0203 a0001c0001t0007g0102 a0001c0001t0007g0103 a0001c0001t0008g0101 a0001c0001t0008g0165 a0001c0001t0015g0106	7	286	0.0245	35	c.79- others(50): Show c.79-1442_79-1408dupATAGATATATATTTTATATATATCTATATA TATTT	GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
GK_chrX_30648423_30736462	30664101	T T	TTTTATAG others(28): Show TTTTATAGATATATATTTTATATATATCTATATATA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG02622.hp2 others(7): Show HG01515.hp1 HG01517.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02976.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010	a0001c0001t0002g0183 a0001c0001t0003g0006 a0001c0001t0003g0008 others(7): Show a0001c0001t0002g0183 a0001c0001t0003g0006 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0004g0184 a0001c0001t0010g0153 a0001c0001t0010g0154	10	286	0.0350	35	c.79- others(50): Show c.79-1387_79-1386insTATCTATATATATTTATAGATATATATTTT ATATA	GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar

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