Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GADL1_chr3_30721197_30899661	30867439	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02258.hp1 HG03831.hp1 others(6): Show HG00544.hp1 HG02258.hp1 HG03831.hp1 HG03831.hp2 HG04115.hp2 NA18968.hp2 NA19004.hp2 NA19084.hp1 NA19086.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0023 a0005c0006t0040	a0001c0001t0001g0220 a0001c0001t0001g0249 a0001c0001t0002g0270 others(6): Show a0001c0001t0001g0220 a0001c0001t0001g0249 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0003g0088 a0001c0001t0006g0097 a0001c0001t0007g0276 a0001c0001t0023g0247 a0005c0006t0040g0282	9	282	0.0319	24	c.38- others(39): Show c.38-5675_38-5674insGTATATATATATATATATATATAT	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	1/14			chr3	TogoVar
GADL1_chr3_30721197_30899661	30895247	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01168.hp2 HG01243.hp2 others(18): Show HG01109.hp1 HG01168.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG02559.hp2 HG02818.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 NA18906.hp2 NA18954.hp1 NA18979.hp1 NA18979.hp2 NA19005.hp1 NA19012.hp1 NA19056.hp2 NA19089.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0002c0002 a0001c0001 a0001c0010 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0031 a0001c0001t0032 a0001c0001t0038 a0001c0010t0011 a0002c0002t0003	a0001c0001t0001g0032 a0001c0001t0001g0045 a0001c0001t0001g0072 others(18): Show a0001c0001t0001g0032 a0001c0001t0001g0045 a0001c0001t0001g0072 a0001c0001t0001g0091 a0001c0001t0002g0029 a0001c0001t0002g0046 a0001c0001t0002g0074 a0001c0001t0002g0111 a0001c0001t0003g0071 a0001c0001t0004g0106 a0001c0001t0004g0110 a0001c0001t0005g0116 a0001c0001t0006g0016 a0001c0001t0006g0066 a0001c0001t0007g0107 a0001c0001t0010g0038 a0001c0001t0031g0108 a0001c0001t0032g0109 a0001c0001t0038g0112 a0001c0010t0011g0105 a0002c0002t0003g0114	21	282	0.0745	24	c.-63 others(33): Show c.-634_-633insCACACACACACACACACACACACA	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding		587		chr3	TogoVar
GAL3ST4_chr7_100154244_100173617	100172647	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00621.hp1 HG00673.hp1 others(63): Show HG00408.hp1 HG00621.hp1 HG00673.hp1 HG00738.hp1 HG01099.hp1 HG01192.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02109.hp1 HG02148.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp2 HG02602.hp1 HG02976.hp2 HG03098.hp1 HG03453.hp2 HG03831.hp2 HG03834.hp1 NA18944.hp2 NA18945.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp2 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp2 NA18997.hp2 NA19003.hp2 NA19058.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19068.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19087.hp1 NA19090.hp1 NA19091.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0002c0002t0005 a0003c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(34): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0043 a0001c0001t0001g0085 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0005g0114 a0002c0002t0001g0010 a0002c0002t0001g0025 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0101 a0002c0002t0001g0174 a0002c0002t0005g0096 a0003c0004t0001g0009 a0003c0004t0001g0086 a0003c0004t0001g0095 a0003c0004t0001g0100	66	402	0.1642	24	c.-42 others(35): Show c.-4291_-4290insCATATATATATATACACACACACA	GAL3ST4	ENSG00000197093.11	transcript	ENST00000360039.9	protein_coding		4031		chr7	TogoVar
GAL3ST4_chr7_100154244_100173617	100172647	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19065.hp2 NA19005.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0015 a0001c0001t0001g0026	2	402	0.0050	24	c.-42 others(35): Show c.-4291_-4290insCATATATATATACACACACACACA	GAL3ST4	ENSG00000197093.11	transcript	ENST00000360039.9	protein_coding		4031		chr7	TogoVar
GAL3ST4_chr7_100154244_100173617	100172673	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	402	0.0025	24	c.-43 others(35): Show c.-4340_-4317dupTATATATATATACACACACACACA	GAL3ST4	ENSG00000197093.11	transcript	ENST00000360039.9	protein_coding		4057		chr7	TogoVar
GALC_chr14_87928014_87998182	87936896	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02970.hp2 HG03453.hp2 others(5): Show HG02083.hp2 HG02970.hp2 HG03453.hp2 HG03490.hp2 HG03492.hp2 HG04115.hp2 NA18964.hp2 NA19063.hp2	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0001c0016 a0002c0004 others(2): Show a0001c0001 a0001c0016 a0002c0004 a0002c0015 a0013c0028	a0001c0001t0001 a0001c0016t0001 a0002c0004t0002 others(2): Show a0001c0001t0001 a0001c0016t0001 a0002c0004t0002 a0002c0015t0002 a0013c0028t0001	a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0243 others(4): Show a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0243 a0001c0016t0001g0020 a0002c0004t0002g0278 a0002c0015t0002g0140 a0013c0028t0001g0058	8	370	0.0216	24	c.191 others(43): Show c.1912-2019_1912-2018insTATATATATATATATATATATATA	GALC	ENSG00000054983.17	transcript	ENST00000261304.7	protein_coding	16/16			chr14	TogoVar
GALK2_chr15_49165247_49336882	49178195	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0031 a0001c0001t0006g0031	1	348	0.0029	24	c.53+ others(39): Show c.53+7829_53+7852dupTATATATATATATATATATATATA	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49228682	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA21309.hp2 HG03130.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0167 a0001c0001t0015g0063 a0001c0001t0002g0167 a0001c0001t0015g0063	2	348	0.0058	24	c.267 others(41): Show c.267-7163_267-7162insATATATATATATATATACATATAT	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(17): Show ATATATATATATATATACATATATT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0058 a0001c0001t0007g0058	1	348	0.0029	24	c.267 others(41): Show c.267-7163_267-7162insATATATATATATATACATATATTT	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(17): Show ATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0173 a0001c0002t0011g0173	1	348	0.0029	24	c.267 others(41): Show c.267-7163_267-7162insATATATATATATATATTTTTTTTT	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(17): Show ATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03041.hp1 HG02717.hp2 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0037 a0001c0002t0011 a0001c0002t0037	a0001c0002t0011g0200 a0001c0002t0037g0203 a0001c0002t0011g0200 a0001c0002t0037g0203	2	348	0.0058	24	c.267 others(41): Show c.267-7163_267-7162insATATATATATATATTTTTTTTTTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49299709	G G	GCTTGCTT others(17): Show GCTTGCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0118 a0001c0001t0018g0118	1	348	0.0029	24	c.967 others(41): Show c.967+7175_967+7176insGCTTTCTTTCTTTCTTTCTTTCTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49299709	G G	GCTTTCTT others(17): Show GCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02735.hp1 HG00280.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0154 a0001c0002t0003g0159 a0001c0002t0003g0154 a0001c0002t0003g0159	2	348	0.0058	24	c.967 others(41): Show c.967+7177_967+7200dupCTTTCTTTCTTTCTTTCTTTCTTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49299735	T T	TTTCTTTC others(17): Show TTTCTTTCTTTCTTTCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0052 a0001c0002t0052	a0001c0002t0052g0188 a0001c0002t0052g0188	1	348	0.0029	24	c.967 others(41): Show c.967+7200_967+7201insCTTTCTTTCTTTCTTTCCTTTCTT	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(17): Show ATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0210 a0002c0002t0001g0210	1	328	0.0031	24	c.634 others(43): Show c.634+13199_634+13200insATATATATATATATATATATTTTT	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT10_chr5_154185733_154425984	154293613	A A	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0025 a0001c0004t0009g0025	1	236	0.0042	24	c.160 others(41): Show c.160-1202_160-1201insATATATATATATATATATTTTTTT	GALNT10	ENSG00000164574.16	transcript	ENST00000297107.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GALNT13_chr2_153866922_154458979	153884766	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18944.hp1 NA18990.hp1 others(2): Show HG02559.hp1 NA18944.hp1 NA18990.hp1 NA19004.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 others(1): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0020	a0001c0001t0004g0002 a0001c0001t0004g0003 a0001c0001t0009g0091 others(2): Show a0001c0001t0004g0002 a0001c0001t0004g0003 a0001c0001t0009g0091 a0001c0001t0011g0093 a0001c0001t0020g0092	5	214	0.0234	24	c.-17 others(45): Show c.-177+12483_-177+12484insATATATATATATATATATATATAT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154269906	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0175 a0001c0001t0071g0175	1	214	0.0047	24	c.975 others(43): Show c.975+10787_975+10788insATATATATATATATATATATATAT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154298681	C C	CAATGTAT others(17): Show CAATGTATATATAAATTGTATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02615.hp1 HG02630.hp1 others(2): Show HG01891.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0027 a0001c0001t0035 others(2): Show a0001c0001t0003 a0001c0001t0027 a0001c0001t0035 a0001c0001t0062 a0001c0001t0064	a0001c0001t0003g0010 a0001c0001t0027g0009 a0001c0001t0035g0098 others(2): Show a0001c0001t0003g0010 a0001c0001t0027g0009 a0001c0001t0035g0098 a0001c0001t0062g0039 a0001c0001t0064g0036	5	214	0.0234	24	c.976 others(41): Show c.976-2725_976-2724insGTATATATAAATTGTATATATAAT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT14_chr2_30905467_31143440	30989559	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0084 a0003c0008t0001g0084	1	226	0.0044	24	c.299 others(41): Show c.299+3278_299+3279insATATATATATATATATATATATAT	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	2/14			chr2	TogoVar
GALNT14_chr2_30905467_31143440	30989577	T T	TATATATA others(17): Show TATATATATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA19030.hp1 HG02486.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0023 a0001c0001t0004g0008 a0001c0001t0001g0023 a0001c0001t0004g0008	2	226	0.0089	24	c.299 others(41): Show c.299+3260_299+3261insTTTTATATATATATATATATATAT	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	2/14			chr2	TogoVar
GALNT14_chr2_30905467_31143440	30989630	A A	AAAAATAT others(17): Show AAAAATATATATATTAGTATATATT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0178 a0001c0014t0003g0178	1	226	0.0044	24	c.299 others(41): Show c.299+3184_299+3207dupAATATATACTAATATATATATTTT	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	2/14			chr2	TogoVar
GALNT14_chr2_30905467_31143440	30989682	A A	AATATATA others(17): Show AATATATATTAGTATATATATAAAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp2 NA21309.hp2 HG01109.hp2 HG02145.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0044 a0001c0001t0001g0117 a0001c0001t0001g0021 a0001c0001t0001g0044 a0001c0001t0001g0117	3	226	0.0133	24	c.299 others(41): Show c.299+3132_299+3155dupATTTATATATATACTAATATATAT	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	2/14			chr2	TogoVar
GALNT14_chr2_30905467_31143440	31027886	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00558.hp1 others(3): Show HG00280.hp2 HG00423.hp2 HG00558.hp1 HG00597.hp2 HG02559.hp2 NA18991.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0012 a0001c0001 a0001c0002 a0004c0012	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0004c0012t0007	a0001c0001t0001g0048 a0001c0001t0001g0074 a0001c0001t0001g0131 others(3): Show a0001c0001t0001g0048 a0001c0001t0001g0074 a0001c0001t0001g0131 a0001c0001t0005g0190 a0001c0002t0001g0170 a0004c0012t0007g0186	6	226	0.0266	24	c.130 others(43): Show c.130-34903_130-34880dupCACACACACACACACACACACACA	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	1/14			chr2	TogoVar
GALNT15_chr3_16169680_16235165	16215916	A A	AAAACAAA others(17): Show AAAACAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0144 a0002c0003t0004g0144	1	388	0.0026	24	c.139 others(43): Show c.1392+3156_1392+3157insCAAAAAAAAAAAAAAAAAAACAAA	GALNT15	ENSG00000131386.20	transcript	ENST00000339732.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GALNT15_chr3_16169680_16235165	16215916	A A	AAACAAAA others(17): Show AAACAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG04115.hp1 HG01109.hp2 HG04115.hp1	a0002 a0002	a0002c0003 a0002c0013 a0002c0003 a0002c0013	a0002c0003t0004 a0002c0013t0005 a0002c0003t0004 a0002c0013t0005	a0002c0003t0004g0137 a0002c0013t0005g0189 a0002c0003t0004g0137 a0002c0013t0005g0189	2	388	0.0052	24	c.139 others(43): Show c.1392+3155_1392+3156insCAAAAAAAAAAAAAAAAAAAACAA	GALNT15	ENSG00000131386.20	transcript	ENST00000339732.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GALNT15_chr3_16169680_16235165	16232469	A A	AATAAATA others(17): Show AATAAATAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0020 a0001c0021t0020	a0001c0021t0020g0065 a0001c0021t0020g0065	1	388	0.0026	24	c.49 others(35): Show c.4969_*4970insATAAATAAATATATATATATATAT	GALNT15	ENSG00000131386.20	transcript	ENST00000339732.10	protein_coding		2305		chr3	TogoVar
GALNT15_chr3_16169680_16235165	16232469	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0308 a0001c0001t0002g0308	1	388	0.0026	24	c.49 others(35): Show c.4969_*4970insATATATATATATATATATATATAT	GALNT15	ENSG00000131386.20	transcript	ENST00000339732.10	protein_coding		2305		chr3	TogoVar
GALNT15_chr3_16169680_16235165	16233094	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG01099.hp1 others(16): Show HG00408.hp1 HG00544.hp2 HG01099.hp1 HG01243.hp2 HG01934.hp2 HG01981.hp2 HG01993.hp2 HG02300.hp2 HG02738.hp1 HG02976.hp1 HG04204.hp2 NA18952.hp2 NA18961.hp2 NA18970.hp2 NA18993.hp2 NA19011.hp2 NA19012.hp2 NA19077.hp2 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0002 a0001c0001t0012 a0002c0003t0002 others(2): Show a0001c0001t0002 a0001c0001t0012 a0002c0003t0002 a0002c0003t0004 a0003c0004t0002	a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0011 others(16): Show a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0133 a0001c0001t0002g0164 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0241 a0001c0001t0002g0288 a0001c0001t0002g0302 a0001c0001t0002g0309 a0001c0001t0002g0318 a0001c0001t0002g0323 a0001c0001t0002g0325 a0001c0001t0012g0327 a0002c0003t0002g0188 a0002c0003t0004g0132 a0003c0004t0002g0169	19	388	0.0490	24	c.55 others(35): Show c.5594_*5595insTTTTTTTTTTTTTTTTTTTTTTTT	GALNT15	ENSG00000131386.20	transcript	ENST00000339732.10	protein_coding		2930		chr3	TogoVar
GALNT16_chr14_69255158_69359466	69318479	A A	ATGAATGC others(17): Show ATGAATGCATGCATGAATGGATGAG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0004 a0006c0010t0004	a0006c0010t0004g0175 a0006c0010t0004g0175	1	306	0.0033	24	c.178 others(41): Show c.178-2223_178-2200dupTGCATGAATGGATGAGTGAATGCA	GALNT16	ENSG00000100626.17	transcript	ENST00000448469.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
GALNT16_chr14_69255158_69359466	69342474	A A	AAGGGAGG others(17): Show AAGGGAGGAAGGCAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02258.hp1 HG02738.hp1 others(2): Show HG02129.hp2 HG02258.hp1 HG02738.hp1 HG03041.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0027 a0001c0001t0002 a0001c0001t0010 a0001c0001t0027	a0001c0001t0002g0028 a0001c0001t0002g0096 a0001c0001t0002g0112 others(2): Show a0001c0001t0002g0028 a0001c0001t0002g0096 a0001c0001t0002g0112 a0001c0001t0010g0025 a0001c0001t0027g0077	5	306	0.0163	24	c.127 others(41): Show c.1271+717_1271+718insAAGGCAGGGAGGGAGGGAGGGAGG	GALNT16	ENSG00000100626.17	transcript	ENST00000448469.8	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
GALNT16_chr14_69255158_69359466	69345703	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02922.hp1 HG03927.hp1 others(3): Show HG00733.hp2 HG02922.hp1 HG03927.hp1 HG04204.hp2 NA18957.hp2 NA19011.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0017 a0002c0002 others(1): Show a0001c0001 a0001c0017 a0002c0002 a0008c0018	a0001c0001t0002 a0001c0017t0001 a0002c0002t0001 others(2): Show a0001c0001t0002 a0001c0017t0001 a0002c0002t0001 a0002c0002t0002 a0008c0018t0002	a0001c0001t0002g0131 a0001c0017t0001g0272 a0002c0002t0001g0158 others(3): Show a0001c0001t0002g0131 a0001c0017t0001g0272 a0002c0002t0001g0158 a0002c0002t0002g0148 a0002c0002t0002g0234 a0008c0018t0002g0295	6	306	0.0196	24	c.127 others(43): Show c.1272-1326_1272-1303dupGTGTGTGTGTGTGTGTGTGTGTGT	GALNT16	ENSG00000100626.17	transcript	ENST00000448469.8	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
GALNT17_chr7_71127144_71718599	71148858	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	76	0.0132	24	c.238 others(43): Show c.238+15819_238+15820insATATATATATATATATATATATAT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71156579	G G	GTCCTTCC others(17): Show GTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0010 a0001c0001t0021g0010	1	76	0.0132	24	c.238 others(43): Show c.238+23556_238+23579dupTCCTTCCTTCCTTCCTTCCTTCCT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71201235	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0010 a0001c0009t0010	a0001c0009t0010g0071 a0001c0009t0010g0071	1	76	0.0132	24	c.238 others(43): Show c.238+68198_238+68199insATATATATATATATATATATATAT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71201239	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA19060.hp2 NA20752.hp1 HG04228.hp2 NA19060.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0015 a0001c0001t0002 a0001c0001t0006 a0001c0001t0015	a0001c0001t0002g0018 a0001c0001t0006g0057 a0001c0001t0015g0076 a0001c0001t0002g0018 a0001c0001t0006g0057 a0001c0001t0015g0076	3	76	0.0395	24	c.238 others(43): Show c.238+68200_238+68201insATATATATATATATATATATATAT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71201244	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0056 a0001c0001t0006g0056	1	76	0.0132	24	c.238 others(43): Show c.238+68217_238+68218insTATATATATACATATATATATATA	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71319090	T T	TTATCTTT others(17): Show TTATCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0016 a0001c0001t0018g0016	1	76	0.0132	24	c.239 others(43): Show c.239-16459_239-16458insATCTTTCTTTCTTTCTTTCTTTCT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71321902	C C	CCTTCCTT others(17): Show CCTTCCTTCCTTCCTTCCTTCCTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00738.hp1 HG01243.hp1 others(6): Show HG00438.hp2 HG00738.hp1 HG01243.hp1 HG01346.hp1 HG02615.hp2 HG02976.hp2 HG03710.hp2 NA18983.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0016 a0001c0002t0008 a0001c0006t0005	a0001c0001t0002g0019 a0001c0001t0005g0051 a0001c0001t0006g0064 others(6): Show a0001c0001t0002g0019 a0001c0001t0005g0051 a0001c0001t0006g0064 a0001c0001t0007g0059 a0001c0001t0007g0062 a0001c0001t0013g0073 a0001c0001t0016g0043 a0001c0002t0008g0025 a0001c0006t0005g0053	9	76	0.1184	24	c.239 others(43): Show c.239-13627_239-13626insTTTCTTCCTTCCTTCCTTCCTTCC	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71482081	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA20129.hp2 HG02622.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0039 a0001c0001t0002g0015 a0001c0001t0001g0039 a0001c0001t0002g0015	2	76	0.0263	24	c.962 others(43): Show c.962+60986_962+61009dupGTGTGTGTGTGTGTGTGTGTGTGT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71693303	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0028 a0001c0001t0004g0029	2	76	0.0263	24	c.150 others(45): Show c.1500+15998_1500+15999insTATATATATATATATATATATATA	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT2_chr1_230062238_230287122	230128257	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0278 a0001c0001t0005g0278	1	324	0.0031	24	c.127 others(43): Show c.127-49941_127-49940insTGTGTGTGTGTGTGTGTGTGTGTG	GALNT2	ENSG00000143641.10	transcript	ENST00000366672.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
GALNT2_chr1_230062238_230287122	230222031	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01952.hp2 HG02818.hp1 others(5): Show HG01928.hp2 HG01952.hp2 HG02818.hp1 HG03471.hp2 HG03486.hp1 HG03831.hp1 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0006 a0001c0003t0011 a0001c0010t0011 a0001c0003t0006 a0001c0003t0011 a0001c0010t0011	a0001c0003t0006g0011 a0001c0003t0006g0126 a0001c0003t0006g0172 others(5): Show a0001c0003t0006g0011 a0001c0003t0006g0126 a0001c0003t0006g0172 a0001c0003t0011g0200 a0001c0003t0011g0255 a0001c0003t0011g0289 a0001c0003t0011g0307 a0001c0010t0011g0299	8	324	0.0247	24	c.375 others(43): Show c.375-13970_375-13969insTTTTTTTTTTTTTTTTTTTTTTTT	GALNT2	ENSG00000143641.10	transcript	ENST00000366672.5	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
GALNT5_chr2_157252705_157323491	157256569	A A	AAAAAAAA others(17): Show AAAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0192 a0002c0003t0004g0192	1	282	0.0036	24	c.-15 others(35): Show c.-1514_-1513insAAAAAAAAAAATATATATATATAT	GALNT5	ENSG00000136542.9	transcript	ENST00000259056.5	protein_coding		1135		chr2	TogoVar
GALNT7_chr4_173163811_173328967	173216706	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02809.hp1 HG03130.hp2 others(2): Show HG02451.hp2 HG02809.hp1 HG03130.hp2 HG03139.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0195 others(2): Show a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0195 a0001c0002t0002g0192 a0001c0002t0003g0015	5	266	0.0188	24	c.127 others(43): Show c.127-31252_127-31251insATATATATATATATATATATATAT	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNT7_chr4_173163811_173328967	173216727	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0182 a0001c0002t0002g0182	1	266	0.0038	24	c.127 others(43): Show c.127-31252_127-31251insATATATATATATATATATATATTT	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNT7_chr4_173163811_173328967	173288282	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	266	0.0038	24	c.588 others(41): Show c.588-3803_588-3802insAAAAAAAAAAAAAAAAAAAAAAAA	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNT9_chr12_132191372_132334589	132198427	C C	CGGGGCTG others(17): Show CGGGGCTGGGGCTGGGGCTGGGGCT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0130 a0001c0002t0001g0130	1	183	0.0055	24	c.149 others(41): Show c.1498-469_1498-468insAGCCCCAGCCCCAGCCCCAGCCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	9/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132198443	G G	GCTGGGGC others(17): Show GCTGGGGCTGGGGCTGGGGCTGGGC	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0179 a0001c0012t0002g0179	1	183	0.0055	24	c.149 others(41): Show c.1498-485_1498-484insGCCCAGCCCCAGCCCCAGCCCCAG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	9/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132203775	G G	GGGCCCGG others(17): Show GGGCCCGGCCCTCTGTTCCTGGGGC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp1 HG02109.hp1 others(4): Show HG01167.hp1 HG01243.hp1 HG02109.hp1 HG02257.hp1 HG02717.hp2 HG02965.hp1 HG02976.hp1	a0001 a0001	a0001c0014 a0001c0015 a0001c0018 others(2): Show a0001c0014 a0001c0015 a0001c0018 a0001c0019 a0001c0036	a0001c0014t0003 a0001c0015t0001 a0001c0018t0001 others(2): Show a0001c0014t0003 a0001c0015t0001 a0001c0018t0001 a0001c0019t0003 a0001c0036t0003	a0001c0014t0003g0074 a0001c0014t0003g0146 a0001c0014t0003g0153 others(4): Show a0001c0014t0003g0074 a0001c0014t0003g0146 a0001c0014t0003g0153 a0001c0015t0001g0067 a0001c0018t0001g0047 a0001c0019t0003g0145 a0001c0036t0003g0055	7	183	0.0383	24	c.107 others(40): Show c.1078-109_1078-86dupGCCCCAGGAACAGAGGGCCGGGCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar

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