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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
G3BP2_chr4_75637786_75678411	75674718	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03098.hp2 HG03041.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0031 a0001c0001t0029 a0001c0001t0031	a0001c0001t0029g0238 a0001c0001t0031g0036 a0001c0001t0029g0238 a0001c0001t0031g0036	2	330	0.0061	23	c.-15 others(34): Show c.-1536_-1535insATATATATATATATATATATATA	G3BP2	ENSG00000138757.15	transcript	ENST00000359707.9	protein_coding		1308		chr4	TogoVar
G3BP2_chr4_75637786_75678411	75674718	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	330	0.0030	23	c.-15 others(34): Show c.-1536_-1535insAAAAAAATATATATATATATATA	G3BP2	ENSG00000138757.15	transcript	ENST00000359707.9	protein_coding		1308		chr4	TogoVar
GAB1_chr4_143331876_143479565	143413824	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0074 a0001c0001t0009g0074	1	194	0.0052	23	c.73- others(38): Show c.73-1651_73-1629dupTTTTTTTTTTTTTTTTTTTTTTT	GAB1	ENSG00000109458.10	transcript	ENST00000262994.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
GAB2_chr11_78210293_78422820	78227631	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0127 a0001c0005t0013g0127	1	288	0.0035	23	c.621 others(38): Show c.621-581_621-580insTTTTTTTTTTTTTTTTTTTTTTT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	3/9			chr11	TogoVar
GAB2_chr11_78210293_78422820	78267857	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03492.hp1 NA19065.hp2 HG00642.hp2 HG03492.hp1 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0011 a0001c0002t0035 a0001c0002t0002 a0001c0002t0011 a0001c0002t0035	a0001c0002t0002g0043 a0001c0002t0011g0006 a0001c0002t0035g0081 a0001c0002t0002g0043 a0001c0002t0011g0006 a0001c0002t0035g0081	3	288	0.0104	23	c.376 others(42): Show c.376+12721_376+12743dupTTTTTTTTTTTTTTTTTTTTTTT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	2/9			chr11	TogoVar
GAB2_chr11_78210293_78422820	78318369	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00735.hp2 others(34): Show HG00639.hp1 HG00642.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01106.hp1 HG01243.hp1 HG01256.hp1 HG01516.hp2 HG01928.hp1 HG02280.hp1 HG02293.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02738.hp1 HG02895.hp1 HG02970.hp2 HG02976.hp2 HG03486.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03831.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 NA18939.hp2 NA18941.hp2 NA18951.hp1 NA18960.hp2 NA18981.hp1 NA18982.hp2 NA19064.hp1 NA19065.hp1 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0026 a0001c0001t0044 a0001c0001t0048 a0001c0002t0009 a0001c0005t0013	a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0159 others(34): Show a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0004g0260 a0001c0001t0010g0079 a0001c0001t0012g0239 a0001c0001t0016g0288 a0001c0001t0026g0028 a0001c0001t0044g0270 a0001c0001t0048g0174 a0001c0002t0009g0136 a0001c0005t0013g0127 a0001c0005t0013g0130 a0001c0005t0013g0131	37	288	0.1285	23	c.76- others(40): Show c.76-37469_76-37468insTTTTTTTTTTTTTTTTTTTTTTT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GAB2_chr11_78210293_78422820	78383581	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02630.hp2 HG02976.hp2 others(4): Show HG00423.hp1 HG02630.hp2 HG02976.hp2 HG03041.hp2 HG03225.hp2 HG03471.hp1 NA18974.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0002t0009 a0001c0002t0025 others(2): Show a0001c0002t0002 a0001c0002t0009 a0001c0002t0025 a0001c0002t0055 a0001c0003t0020	a0001c0002t0002g0047 a0001c0002t0009g0136 a0001c0002t0009g0137 others(4): Show a0001c0002t0002g0047 a0001c0002t0009g0136 a0001c0002t0009g0137 a0001c0002t0009g0138 a0001c0002t0025g0161 a0001c0002t0055g0117 a0001c0003t0020g0141	7	288	0.0243	23	c.75+ others(40): Show c.75+34064_75+34065insTTTTTTTTTTTTTTTTTTTTTTT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GABBR2_chr9_98283109_98713935	98390375	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0031 a0001c0005t0031	a0001c0005t0031g0002 a0001c0005t0031g0002	1	164	0.0061	23	c.137 others(42): Show c.1379-1394_1379-1372dupTTTTTTTTTTTTTTTTTTTTTTT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	9/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98492349	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01433.hp2 HG02895.hp2 others(2): Show HG01106.hp2 HG01433.hp2 HG02895.hp2 HG02897.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0004 others(1): Show a0001c0002 a0001c0005 a0002c0004 a0002c0009	a0001c0002t0009 a0001c0005t0013 a0002c0004t0049 others(1): Show a0001c0002t0009 a0001c0005t0013 a0002c0004t0049 a0002c0009t0004	a0001c0002t0009g0130 a0001c0005t0013g0080 a0001c0005t0013g0081 others(2): Show a0001c0002t0009g0130 a0001c0005t0013g0080 a0001c0005t0013g0081 a0002c0004t0049g0074 a0002c0009t0004g0113	5	164	0.0305	23	c.732 others(40): Show c.732+4041_732+4063dupTTTTTTTTTTTTTTTTTTTTTTT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	4/18			chr9	TogoVar
GABPB1_chr15_50270389_50360198	50337129	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	366	0.0027	23	c.-1+ others(40): Show c.-1+17855_-1+17856insATATATATATATATATATATATA	GABPB1	ENSG00000104064.18	transcript	ENST00000380877.8	protein_coding	1/8			chr15	TogoVar
GABPB2_chr1_151065761_151130542	151104775	C C	CTCTTCTT others(16): Show CTCTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	264	0.0038	23	c.736 others(40): Show c.736+1104_736+1105insCTTTCTTTCTTTCTTTCTTTCTT	GABPB2	ENSG00000143458.12	transcript	ENST00000368918.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
GABPB2_chr1_151065761_151130542	151104802	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG01258.hp1 others(17): Show HG00544.hp1 HG00544.hp2 HG01258.hp1 HG01934.hp1 HG02132.hp1 HG02132.hp2 HG03831.hp1 HG03942.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18991.hp1 NA19030.hp2 NA19057.hp1 NA19079.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0004 a0007c0010 a0001c0001 a0004c0004 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0015 a0001c0001t0019 a0001c0001t0027 a0001c0001t0031 a0001c0001t0075 a0001c0001t0079 a0004c0004t0009 a0007c0010t0001	a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0152 others(17): Show a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0152 a0001c0001t0001g0163 a0001c0001t0001g0179 a0001c0001t0001g0201 a0001c0001t0002g0124 a0001c0001t0002g0157 a0001c0001t0002g0173 a0001c0001t0002g0205 a0001c0001t0011g0160 a0001c0001t0015g0132 a0001c0001t0015g0142 a0001c0001t0019g0191 a0001c0001t0027g0178 a0001c0001t0031g0194 a0001c0001t0075g0189 a0001c0001t0079g0187 a0004c0004t0009g0102 a0007c0010t0001g0247	20	264	0.0758	23	c.736 others(40): Show c.736+1129_736+1130insCTTTCTTTCTTTCTTTCTTTCTT	GABPB2	ENSG00000143458.12	transcript	ENST00000368918.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
GABRA2_chr4_46238548_46395128	46390200	C C	CCCTCCCC others(16): Show CCCTCCCCCCCCCTCCCCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0162 a0001c0002t0162	a0001c0002t0162g0191 a0001c0002t0162g0191	1	258	0.0039	23	c.-47 others(32): Show c.-477_-476insAGGGGGGGGGAGGGGGGGGGAGG	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding		73		chr4	TogoVar
GABRB2_chr5_161283436_161551725	161416696	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01109.hp2 HG01516.hp2 others(20): Show HG00408.hp2 HG01109.hp2 HG01516.hp2 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02109.hp1 HG02300.hp2 HG02738.hp2 NA18943.hp1 NA18955.hp2 NA18963.hp1 NA18965.hp2 NA18971.hp1 NA18994.hp2 NA18995.hp2 NA19001.hp2 NA19057.hp2 NA19062.hp2 NA19080.hp2 NA19087.hp1 NA19089.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0015 a0001c0001t0016 a0001c0002t0012 a0001c0002t0014 a0001c0005t0048	a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0033 others(20): Show a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0045 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0240 a0001c0001t0003g0073 a0001c0001t0005g0040 a0001c0001t0005g0167 a0001c0001t0005g0251 a0001c0001t0007g0030 a0001c0001t0007g0032 a0001c0001t0007g0208 a0001c0001t0015g0144 a0001c0001t0016g0060 a0001c0002t0012g0028 a0001c0002t0014g0241 a0001c0002t0014g0258 a0001c0005t0048g0226	23	266	0.0865	23	c.459 others(40): Show c.459-5662_459-5640dupTTTTTTTTTTTTTTTTTTTTTTT	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	4/9			chr5	TogoVar
GABRB2_chr5_161283436_161551725	161487949	G G	GATGATCC others(16): Show GATGATCCAGATCATCCCAGATGA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0259 a0001c0001t0033g0259	1	266	0.0038	23	c.238 others(42): Show c.238-28106_238-28105insTCATCTGGGATGATCTGGATCAT	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	3/9			chr5	TogoVar
GABRB3_chr15_26538552_26778066	26554144	G G	GTATATAT others(16): Show GTATATATATATATATATAAAGTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01993.hp2 others(12): Show HG00639.hp1 HG00741.hp1 HG01993.hp2 HG02109.hp2 HG02155.hp2 HG02293.hp2 HG02300.hp1 HG02602.hp1 HG03017.hp1 HG03654.hp1 HG03688.hp2 HG03710.hp1 HG04204.hp2 NA18964.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0047 others(12): Show a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0047 a0001c0001t0004g0053 a0001c0001t0004g0064 a0001c0001t0004g0066 a0001c0001t0004g0084 a0001c0001t0004g0097 a0001c0001t0004g0114 a0001c0001t0004g0117 a0001c0001t0004g0154 a0001c0001t0004g0160 a0001c0001t0004g0163 a0001c0001t0004g0165 a0001c0001t0004g0182	15	204	0.0735	23	c.108 others(42): Show c.1081-6011_1081-6010insTACTTTATATATATATATATATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRG3_chr15_26966181_27546984	27062434	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	92	0.0109	23	c.270 others(42): Show c.270+35615_270+35637dupAAAAAAAAAAAAAAAAAAAAAAA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27145603	C C	CTCTATCT others(16): Show CTCTATCTATCTATCTATCTATCA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01884.hp1 HG01891.hp1 others(7): Show HG01517.hp2 HG01884.hp1 HG01891.hp1 HG02698.hp1 HG02809.hp1 HG03017.hp1 HG03098.hp1 HG03834.hp2 NA19030.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 a0001c0001t0028 a0001c0001t0034 a0001c0002t0001 a0001c0002t0009 a0001c0005t0005	a0001c0001t0001g0042 a0001c0001t0001g0084 a0001c0001t0004g0007 others(7): Show a0001c0001t0001g0042 a0001c0001t0001g0084 a0001c0001t0004g0007 a0001c0001t0021g0072 a0001c0001t0028g0054 a0001c0001t0034g0088 a0001c0002t0001g0009 a0001c0002t0001g0082 a0001c0002t0009g0022 a0001c0005t0005g0045	10	92	0.1087	23	c.270 others(44): Show c.270+118804_270+118805insATCTATCTATCTATCTATCTATC	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27145606	T T	TATCTATC others(16): Show TATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0077 a0001c0002t0001g0047 a0001c0001t0001g0077 a0001c0002t0001g0047	2	92	0.0217	23	c.270 others(44): Show c.270+118786_270+118808dupATCTATCTATCTATCTATCTATC	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27145610	T T	TATCTATC others(16): Show TATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19240.hp2 HG02258.hp2 NA19240.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0002 a0001c0006t0003 a0001c0005t0002 a0001c0006t0003	a0001c0005t0002g0067 a0001c0006t0003g0020 a0001c0005t0002g0067 a0001c0006t0003g0020	2	92	0.0217	23	c.270 others(44): Show c.270+118790_270+118812dupATCTATCTATCTATCTATCTATC	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27145614	T T	TATCTATC others(16): Show TATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0012 a0001c0002t0016g0012	1	92	0.0109	23	c.270 others(44): Show c.270+118794_270+118816dupATCTATCTATCTATCTATCTATC	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27245676	A A	AGCCTGGC others(16): Show AGCCTGGCCAACATGGTGAAACCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00408.hp2 others(30): Show HG00323.hp1 HG00408.hp1 HG00408.hp2 HG01071.hp1 HG01109.hp1 HG01261.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG02698.hp1 HG02717.hp1 HG02922.hp2 HG03098.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03704.hp1 HG03834.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0001c0017 a0001c0018	a0001c0001t0001 a0001c0001t0012 a0001c0001t0025 others(21): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0025 a0001c0001t0028 a0001c0002t0001 a0001c0002t0009 a0001c0002t0016 a0001c0002t0035 a0001c0003t0001 a0001c0003t0009 a0001c0003t0012 a0001c0003t0022 a0001c0004t0005 a0001c0004t0011 a0001c0005t0002 a0001c0005t0005 a0001c0006t0013 a0001c0007t0004 a0001c0009t0010 a0001c0010t0017 a0001c0013t0023 a0001c0014t0024 a0001c0017t0001 a0001c0018t0004	a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0033 others(30): Show a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0001g0071 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0012g0025 a0001c0001t0025g0092 a0001c0001t0028g0054 a0001c0002t0001g0029 a0001c0002t0001g0046 a0001c0002t0009g0022 a0001c0002t0016g0012 a0001c0002t0035g0019 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0009g0059 a0001c0003t0012g0023 a0001c0003t0022g0058 a0001c0004t0005g0050 a0001c0004t0011g0078 a0001c0005t0002g0055 a0001c0005t0005g0037 a0001c0005t0005g0045 a0001c0006t0013g0017 a0001c0007t0004g0056 a0001c0009t0010g0051 a0001c0010t0017g0003 a0001c0013t0023g0006 a0001c0014t0024g0057 a0001c0017t0001g0039 a0001c0018t0004g0053	33	92	0.3587	23	c.271 others(42): Show c.271-81132_271-81110dupGCCTGGCCAACATGGTGAAACCC	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GAD1_chr2_170811887_170866151	170828147	C C	CACCCTCC others(16): Show CACCCTCCTCCCTCTGCTGTCCTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp1 NA18961.hp2 others(1): Show HG00544.hp2 HG00621.hp1 NA18961.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0263 others(1): Show a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0263 a0001c0001t0001g0264	4	412	0.0097	23	c.146 others(40): Show c.146-1306_146-1305insTACCCTCCTCCCTCTGCTGTCCT	GAD1	ENSG00000128683.14	transcript	ENST00000358196.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
GAD1_chr2_170811887_170866151	170828276	T T	TTCCCTCT others(16): Show TTCCCTCTGCCATCCTCACCCTCC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01261.hp2 HG03209.hp2 others(2): Show HG00733.hp2 HG01261.hp2 HG03209.hp2 HG03486.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0241 a0001c0004t0001g0214 a0001c0004t0001g0239 others(2): Show a0001c0001t0001g0241 a0001c0004t0001g0214 a0001c0004t0001g0239 a0001c0004t0001g0240 a0001c0004t0001g0281	5	412	0.0121	23	c.146 others(40): Show c.146-1190_146-1189insCATCCTCACCCTCCTCCCTCTGC	GAD1	ENSG00000128683.14	transcript	ENST00000358196.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
GAD1_chr2_170811887_170866151	170828276	T T	TTCCCTCT others(16): Show TTCCCTCTGCCGTCCTCACCCTCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00609.hp2 others(49): Show HG00438.hp2 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG01123.hp2 HG02074.hp2 HG02083.hp1 HG02135.hp1 HG02155.hp2 HG02630.hp1 HG03704.hp2 HG03831.hp2 HG04199.hp2 HG06807.hp2 NA18612.hp1 NA18943.hp1 NA18945.hp1 NA18948.hp1 NA18949.hp1 NA18952.hp2 NA18955.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18968.hp2 NA18972.hp2 NA18974.hp1 NA18975.hp1 NA18979.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp2 NA18990.hp1 NA19000.hp1 NA19003.hp2 NA19005.hp2 NA19010.hp1 NA19054.hp2 NA19055.hp1 NA19060.hp2 NA19062.hp1 NA19065.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19079.hp1 NA19084.hp1 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0008 a0001c0001 a0001c0002 a0004c0008	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0004c0008t0001	a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0184 others(47): Show a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0184 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0003g0296 a0001c0001t0003g0303 a0001c0001t0003g0330 a0001c0002t0001g0004 a0001c0002t0001g0013 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0055 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0072 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0138 a0001c0002t0001g0185 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0343 a0001c0002t0002g0025 a0001c0002t0002g0036 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0004c0008t0001g0027	52	412	0.1262	23	c.146 others(40): Show c.146-1190_146-1189insCGTCCTCACCCTCCTCCCTCTGC	GAD1	ENSG00000128683.14	transcript	ENST00000358196.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
GAD1_chr2_170811887_170866151	170828299	C C	CTCCCTCT others(16): Show CTCCCTCTGCTGTCCTCACCCTCT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18980.hp1 NA18986.hp1 others(3): Show NA18945.hp2 NA18980.hp1 NA18986.hp1 NA19005.hp1 NA19011.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0109 a0001c0002t0001g0112 others(1): Show a0001c0002t0001g0002 a0001c0002t0001g0109 a0001c0002t0001g0112 a0001c0002t0001g0157	6	412	0.0146	23	c.146 others(40): Show c.146-1162_146-1140dupCTCACCCTCTTCCCTCTGCTGTC	GAD1	ENSG00000128683.14	transcript	ENST00000358196.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
GAD1_chr2_170811887_170866151	170828458	G G	GTCCTCCC others(16): Show GTCCTCCCTCTGCTGTCCTTGATC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	412	0.0024	23	c.146 others(38): Show c.146-973_146-951dupATCTCCTCCCTCTGCTGTCCTTG	GAD1	ENSG00000128683.14	transcript	ENST00000358196.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
GAD1_chr2_170811887_170866151	170828619	G G	GCCCTCCT others(16): Show GCCCTCCTCCCTCTGCTGTCCTCA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0200 a0001c0002t0001g0200	1	412	0.0024	23	c.146 others(38): Show c.146-822_146-800dupTCTGCTGTCCTCACCCTCCTCCC	GAD1	ENSG00000128683.14	transcript	ENST00000358196.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
GAD1_chr2_170811887_170866151	170828952	C C	CTCCTCCC others(16): Show CTCCTCCCTCTGCTATCCTCATCT	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA21309.hp2 HG02486.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0219 a0001c0001t0001g0022 a0001c0001t0001g0219	2	412	0.0049	23	c.146 others(38): Show c.146-513_146-491dupTGCTATCCTCATCTTCCTCCCTC	GAD1	ENSG00000128683.14	transcript	ENST00000358196.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
GADL1_chr3_30721197_30899661	30805734	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03540.hp2 NA18962.hp1 HG02132.hp2 HG03540.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0080 a0001c0001t0001g0093 a0001c0001t0005g0226 a0001c0001t0001g0080 a0001c0001t0001g0093 a0001c0001t0005g0226	3	282	0.0106	23	c.105 others(42): Show c.1051-4669_1051-4647dupAAAAAAAAAAAAAAAAAAAAAAA	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	11/14			chr3	TogoVar
GAGE10_chrX_49298646_49324841	49318575	T T	TTTATTTA others(16): Show TTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01123.hp2 others(8): Show HG01070.hp1 HG01071.hp1 HG01123.hp2 HG01515.hp1 HG01517.hp1 HG01978.hp2 HG01993.hp1 HG02622.hp2 HG02738.hp1 HG03516.hp2 NA18969.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0003c0003t0003 a0001c0001t0001 a0001c0001t0004 a0003c0003t0003	a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0100 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0100 a0001c0001t0004g0098 a0003c0003t0003g0105	11	302	0.0364	23	c.329 others(40): Show c.329-1148_329-1147insTATTTATTTATTTATTTATTATT	GAGE10	ENSG00000215274.6	transcript	ENST00000407599.4	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
GAGE12J_chrX_49317037_49334384	49318575	T T	TTTATTTA others(16): Show TTTATTTATTTATTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01123.hp1 others(7): Show HG01070.hp2 HG01071.hp2 HG01123.hp1 HG01515.hp1 HG01517.hp1 HG01978.hp2 HG02622.hp1 HG02738.hp1 HG03516.hp2 NA18969.hp1	a0001 a0007 a0013 a0001 a0007 a0013	a0001c0001 a0007c0007 a0013c0009 a0001c0001 a0007c0007 a0013c0009	a0001c0001t0002 a0007c0007t0003 a0013c0009t0005 a0001c0001t0002 a0007c0007t0003 a0013c0009t0005	a0001c0001t0002g0004 a0001c0001t0002g0053 a0001c0001t0002g0071 others(2): Show a0001c0001t0002g0004 a0001c0001t0002g0053 a0001c0001t0002g0071 a0007c0007t0003g0044 a0013c0009t0005g0042	10	194	0.0516	23	c.-35 others(34): Show c.-3578_-3577insTTATTTATTTATTTATTTATTTA	GAGE12J	ENSG00000224659.3	transcript	ENST00000442437.3	protein_coding		3461		chrX	TogoVar
GAGE2A_chrX_49584496_49601824	49587128	A A	AGGGGGGG others(16): Show AGGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	130	0.0077	23	c.-24 others(34): Show c.-2484_-2483insGGGGGGGGGGGGGGGGGGGGGGG	GAGE2A	ENSG00000189064.9	transcript	ENST00000362097.2	protein_coding		2367		chrX	TogoVar
GAK_chr4_844277_937316	856165	C C	CCACCACA others(16): Show CCACCACAGCTGCTCACACCTGCT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0217 a0001c0005t0002g0217	1	390	0.0026	23	c.328 others(42): Show c.3283+3418_3283+3440dupAGCAGGTGTGAGCAGCTGTGGTG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	24/27			chr4	TogoVar
GAK_chr4_844277_937316	856297	C C	CCCTGCTC others(16): Show CCCTGCTCACCACAGCTGCTCACA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0058 a0001c0004t0001g0058	1	390	0.0026	23	c.328 others(42): Show c.3283+3286_3283+3308dupTGTGAGCAGCTGTGGTGAGCAGG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	24/27			chr4	TogoVar
GAK_chr4_844277_937316	856601	G G	GCTGCTCA others(16): Show GCTGCTCACCACAGGTGCTCACAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp1 HG00639.hp1 others(50): Show HG00323.hp2 HG00621.hp1 HG00639.hp1 HG00733.hp2 HG00741.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01496.hp1 HG01891.hp2 HG01975.hp1 HG02004.hp1 HG02074.hp1 HG02165.hp2 HG02273.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02717.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03834.hp2 HG04199.hp1 NA18522.hp2 NA18612.hp2 NA18943.hp1 NA18967.hp1 NA18983.hp2 NA18988.hp1 NA18990.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19012.hp2 NA19030.hp2 NA19063.hp2 NA19067.hp2 NA19081.hp1 NA19240.hp2 NA20129.hp1	a0001 a0005 a0007 others(3): Show a0001 a0005 a0007 a0011 a0012 a0016	a0001c0001 a0001c0012 a0001c0021 others(5): Show a0001c0001 a0001c0012 a0001c0021 a0005c0016 a0007c0015 a0011c0041 a0012c0034 a0016c0039	a0001c0001t0001 a0001c0001t0005 a0001c0012t0001 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0012t0001 a0001c0021t0001 a0005c0016t0001 a0007c0015t0001 a0011c0041t0001 a0012c0034t0001 a0016c0039t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0044 others(50): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0044 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0260 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0345 a0001c0001t0001g0355 a0001c0001t0005g0296 a0001c0012t0001g0009 a0001c0012t0001g0010 a0001c0012t0001g0012 a0001c0012t0001g0015 a0001c0021t0001g0292 a0005c0016t0001g0291 a0005c0016t0001g0300 a0005c0016t0001g0301 a0007c0015t0001g0264 a0011c0041t0001g0321 a0012c0034t0001g0327 a0016c0039t0001g0323	53	390	0.1359	23	c.328 others(42): Show c.3283+2982_3283+3004dupGTGTGAGCACCTGTGGTGAGCAG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	24/27			chr4	TogoVar
GAK_chr4_844277_937316	856615	G G	GTGCTCAC others(16): Show GTGCTCACACCTGCTCACCACAGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG01261.hp2 others(41): Show HG00099.hp1 HG00408.hp1 HG01261.hp2 HG02055.hp1 HG02071.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp2 HG02257.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02622.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03704.hp1 HG03710.hp2 HG04115.hp1 NA18906.hp1 NA18940.hp1 NA18994.hp2 NA19000.hp1 NA19005.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19082.hp2 NA21309.hp2	a0001 a0004 a0019 a0001 a0004 a0019	a0001c0001 a0001c0008 a0001c0030 others(3): Show a0001c0001 a0001c0008 a0001c0030 a0004c0009 a0004c0011 a0019c0028	a0001c0001t0001 a0001c0001t0007 a0001c0008t0001 others(5): Show a0001c0001t0001 a0001c0001t0007 a0001c0008t0001 a0001c0030t0002 a0004c0009t0001 a0004c0009t0006 a0004c0011t0001 a0019c0028t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 others(41): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0088 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0314 a0001c0001t0001g0322 a0001c0001t0001g0336 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0346 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0007g0351 a0001c0008t0001g0097 a0001c0008t0001g0098 a0001c0008t0001g0099 a0001c0008t0001g0100 a0001c0008t0001g0101 a0001c0008t0001g0307 a0001c0008t0001g0308 a0001c0008t0001g0309 a0001c0008t0001g0310 a0001c0030t0002g0294 a0004c0009t0001g0261 a0004c0009t0001g0262 a0004c0009t0001g0378 a0004c0009t0001g0379 a0004c0009t0001g0381 a0004c0009t0006g0377 a0004c0011t0001g0293 a0004c0011t0001g0382 a0004c0011t0001g0383 a0004c0011t0001g0384 a0019c0028t0001g0380	44	390	0.1128	23	c.328 others(42): Show c.3283+2968_3283+2990dupGCTGTGGTGAGCAGGTGTGAGCA	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	24/27			chr4	TogoVar
GAK_chr4_844277_937316	919990	T T	TGTGATGA others(16): Show TGTGATGAGCAGGGTATGATCAAG	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	390	0.0026	23	c.146 others(40): Show c.146-6323_146-6322insCTTGATCATACCCTGCTCATCAC	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	920539	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0051 a0001c0002t0001g0051	1	390	0.0026	23	c.146 others(40): Show c.146-6872_146-6871insAAAAAAAAAAAAAAAAAAAAAAA	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GALK2_chr15_49165247_49336882	49228687	A A	ATATATAT others(16): Show ATATATATATATATATACATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02040.hp1 HG00558.hp2 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0044 a0001c0001t0007g0060 a0001c0001t0007g0044 a0001c0001t0007g0060	2	348	0.0058	23	c.267 others(40): Show c.267-7163_267-7162insATATATATATATATACATATATT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49228687	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0199 a0001c0002t0004g0199	1	348	0.0029	23	c.267 others(40): Show c.267-7163_267-7162insATATATATATATATATATTTTTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49228687	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19043.hp1 HG03486.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0052 a0001c0002t0004 a0001c0002t0052	a0001c0002t0004g0187 a0001c0002t0052g0188 a0001c0002t0004g0187 a0001c0002t0052g0188	2	348	0.0058	23	c.267 others(40): Show c.267-7163_267-7162insATATATATATATATATTTTTTTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49228687	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03540.hp2 HG02723.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0196 a0001c0002t0011g0197 a0001c0002t0011g0196 a0001c0002t0011g0197	2	348	0.0058	23	c.267 others(40): Show c.267-7163_267-7162insATATATATATATATTTTTTTTTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49299735	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01175.hp1 HG01978.hp2 others(4): Show HG00735.hp2 HG01175.hp1 HG01978.hp2 HG02293.hp2 HG03831.hp2 HG03927.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0019 a0001c0002t0003 a0001c0002t0004 a0001c0002t0019	a0001c0002t0003g0134 a0001c0002t0003g0140 a0001c0002t0003g0145 others(4): Show a0001c0002t0003g0134 a0001c0002t0003g0140 a0001c0002t0003g0145 a0001c0002t0003g0152 a0001c0002t0003g0155 a0001c0002t0004g0176 a0001c0002t0019g0132	7	348	0.0201	23	c.967 others(40): Show c.967+7200_967+7201insCTTTCTTTCTTTCTTTCTTTCTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALM_chr2_38661114_38739765	38703092	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0219 a0001c0003t0005g0219	1	328	0.0031	23	c.634 others(42): Show c.634+13199_634+13200insATATATATATATATATATTTTTT	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALM_chr2_38661114_38739765	38703093	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	328	0.0031	23	c.634 others(42): Show c.634+13199_634+13200insATATATATATATATATATATATA	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	4/6			chr2	TogoVar
GALNS_chr16_88808734_88861947	88825032	T T	TGGGGCTG others(16): Show TGGGGCTGGGGTGCCTGGGTGTCC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01123.hp2 HG01175.hp1 others(19): Show HG00741.hp2 HG01123.hp2 HG01175.hp1 HG01243.hp1 HG01261.hp1 HG01496.hp1 HG01952.hp1 HG02132.hp1 HG02148.hp1 HG02293.hp1 HG02602.hp1 HG02717.hp2 HG02818.hp1 HG03704.hp1 HG04115.hp2 NA18970.hp1 NA18982.hp1 NA18983.hp2 NA18985.hp1 NA18991.hp2 NA19079.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0003 a0002c0010 a0002c0026 a0002c0003 a0002c0010 a0002c0026	a0002c0003t0001 a0002c0003t0020 a0002c0010t0001 others(1): Show a0002c0003t0001 a0002c0003t0020 a0002c0010t0001 a0002c0026t0001	a0002c0003t0001g0002 a0002c0003t0001g0023 a0002c0003t0001g0157 others(18): Show a0002c0003t0001g0002 a0002c0003t0001g0023 a0002c0003t0001g0157 a0002c0003t0001g0161 a0002c0003t0001g0192 a0002c0003t0001g0223 a0002c0003t0001g0228 a0002c0003t0001g0229 a0002c0003t0001g0230 a0002c0003t0001g0252 a0002c0003t0001g0277 a0002c0003t0001g0278 a0002c0003t0001g0284 a0002c0003t0001g0288 a0002c0003t0001g0311 a0002c0003t0001g0344 a0002c0003t0001g0366 a0002c0003t0001g0375 a0002c0003t0020g0345 a0002c0010t0001g0158 a0002c0026t0001g0039	22	404	0.0545	23	c.114 others(40): Show c.1140-164_1140-163insGGACACCCAGGCACCCCAGCCCC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	10/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88825056	G G	GGGGCTGG others(16): Show GGGGCTGGAGCTCCTGGGTGGCCA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01884.hp1 HG02055.hp2 others(18): Show HG00639.hp2 HG01884.hp1 HG02055.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02723.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02970.hp1 HG02976.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0002 a0003c0006 a0003c0007 others(3): Show a0001c0002 a0003c0006 a0003c0007 a0003c0016 a0005c0013 a0005c0017	a0001c0002t0004 a0003c0006t0001 a0003c0006t0006 others(6): Show a0001c0002t0004 a0003c0006t0001 a0003c0006t0006 a0003c0007t0004 a0003c0016t0004 a0005c0013t0007 a0005c0013t0012 a0005c0017t0015 a0005c0017t0016	a0001c0002t0004g0009 a0001c0002t0004g0010 a0003c0006t0001g0022 others(18): Show a0001c0002t0004g0009 a0001c0002t0004g0010 a0003c0006t0001g0022 a0003c0006t0006g0393 a0003c0006t0006g0396 a0003c0006t0006g0397 a0003c0007t0004g0026 a0003c0007t0004g0066 a0003c0007t0004g0103 a0003c0007t0004g0104 a0003c0007t0004g0105 a0003c0007t0004g0106 a0003c0007t0004g0114 a0003c0016t0004g0024 a0003c0016t0004g0025 a0005c0013t0007g0387 a0005c0013t0007g0388 a0005c0013t0012g0398 a0005c0013t0012g0399 a0005c0017t0015g0130 a0005c0017t0016g0391	21	404	0.0520	23	c.114 others(40): Show c.1140-210_1140-188dupTGGCCACCCAGGAGCTCCAGCCC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	10/13			chr16	TogoVar
GALNT13_chr2_153866922_154458979	154225160	T T	TGACAGAT others(16): Show TGACAGATAGATGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0036 a0001c0001t0064g0036	1	214	0.0047	23	c.312 others(42): Show c.312-16868_312-16867insCAGATAGATGATAGATAGATAGA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT14_chr2_30905467_31143440	30977092	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19240.hp2 HG01884.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0005 a0001c0001t0001 a0002c0003t0005	a0001c0001t0001g0014 a0002c0003t0005g0188 a0001c0001t0001g0014 a0002c0003t0005g0188	2	226	0.0089	23	c.300 others(42): Show c.300-10791_300-10790insAAAAAAAAAAAAAAAAAAAAAAA	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	2/14			chr2	TogoVar

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