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
GABRG3_chr15_26966181_27546984	27001888	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	92	0.0109	20	c.202 others(39): Show c.202+24753_202+24754insTTTTTTTTTTTTTTTTTTTT	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27062434	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01496.hp2 HG03098.hp1 others(3): Show HG01109.hp1 HG01496.hp2 HG03098.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0009 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0009 a0001c0002t0016	a0001c0001t0001g0043 a0001c0002t0001g0029 a0001c0002t0001g0079 others(3): Show a0001c0001t0001g0043 a0001c0002t0001g0029 a0001c0002t0001g0079 a0001c0002t0001g0082 a0001c0002t0009g0022 a0001c0002t0016g0012	6	92	0.0652	20	c.270 others(39): Show c.270+35618_270+35637dupAAAAAAAAAAAAAAAAAAAA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27307483	T T	TTATATAT others(13): Show TTATATATTTATATATAAACA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01496.hp2 NA19030.hp2 HG00408.hp2 HG01496.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0016 a0001c0003t0012 a0001c0002t0001 a0001c0002t0016 a0001c0003t0012	a0001c0002t0001g0009 a0001c0002t0016g0012 a0001c0003t0012g0023 a0001c0002t0001g0009 a0001c0002t0016g0012 a0001c0003t0012g0023	3	92	0.0326	20	c.271 others(39): Show c.271-19322_271-19321insTATTTATATATAAACATATA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27348155	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03471.hp2 HG03098.hp2 HG03471.hp2	a0001 a0001	a0001c0009 a0001c0014 a0001c0009 a0001c0014	a0001c0009t0002 a0001c0014t0024 a0001c0009t0002 a0001c0014t0024	a0001c0009t0002g0089 a0001c0014t0024g0057 a0001c0009t0002g0089 a0001c0014t0024g0057	2	92	0.0217	20	c.574 others(39): Show c.574+19270_574+19271insAAAAAAAAAAAAAAAAAAAA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27353426	C C	CTATTTAT others(13): Show CTATTTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02717.hp2 HG01891.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0028 a0001c0012t0003 a0001c0001t0028 a0001c0012t0003	a0001c0001t0028g0054 a0001c0012t0003g0068 a0001c0001t0028g0054 a0001c0012t0003g0068	2	92	0.0217	20	c.574 others(39): Show c.574+24552_574+24571dupATTTATTTATTTATTTATTT	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27518195	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0061 a0001c0004t0002g0061	1	92	0.0109	20	c.713 others(37): Show c.713-1775_713-1756dupAAAAAAAAAAAAAAAAAAAA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRR2_chr6_89249464_89320299	89280247	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02135.hp2 HG03831.hp1 HG00741.hp1 HG02135.hp2 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006	a0001c0002t0001g0033 a0001c0002t0003g0084 a0001c0002t0006g0026 a0001c0002t0001g0033 a0001c0002t0003g0084 a0001c0002t0006g0026	3	366	0.0082	20	c.221 others(37): Show c.221-8526_221-8525insGTATATATATATATATATAT	GABRR2	ENSG00000111886.11	transcript	ENST00000402938.4	protein_coding	2/8			chr6	TogoVar
GAD1_chr2_170811887_170866151	170828322	T T	TTCCCTCT others(13): Show TTCCCTCTGCTGTCATCTTCC	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0302 a0001c0001t0003g0302	1	412	0.0024	20	c.146 others(37): Show c.146-1139_146-1120dupATCTTCCTCCCTCTGCTGTC	GAD1	ENSG00000128683.14	transcript	ENST00000358196.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
GAD2_chr10_26211774_26309558	26218551	T T	TCTCACAC others(13): Show TCTCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA18983.hp1 HG01109.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0154 a0001c0001t0006g0153 a0001c0001t0002g0154 a0001c0001t0006g0153	2	294	0.0068	20	c.287 others(35): Show c.287-491_287-490insTCACACACACACACACACAC	GAD2	ENSG00000136750.13	transcript	ENST00000376261.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
GAD2_chr10_26211774_26309558	26295508	G G	GCACACAC others(13): Show GCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG02922.hp2 others(2): Show HG01256.hp2 HG01258.hp2 HG02922.hp2 NA18978.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0005 a0001c0001t0001 a0001c0003t0005	a0001c0001t0001g0014 a0001c0001t0001g0083 a0001c0001t0001g0084 others(2): Show a0001c0001t0001g0014 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0003t0005g0264	5	294	0.0170	20	c.158 others(39): Show c.1584+2538_1584+2557dupCACACACACACACACACACA	GAD2	ENSG00000136750.13	transcript	ENST00000376261.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
GADD45A_chr1_67680201_67693334	67682506	A A	AATATATA others(13): Show AATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03491.hp1 HG03942.hp2 others(2): Show HG03490.hp2 HG03491.hp1 HG03942.hp2 HG04115.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	5	404	0.0124	20	c.-29 others(31): Show c.-2989_-2988insATATATATATATATATATAT	GADD45A	ENSG00000116717.13	transcript	ENST00000370986.9	protein_coding		2694		chr1	TogoVar
GADD45GIP1_chr19_12948119_12962223	12962192	A A	ATTTCTTT others(13): Show ATTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	372	0.0027	20	c.-49 others(31): Show c.-4981_-4980insGAAAGAAAGAAAGAAAGAAA	GADD45GIP1	ENSG00000179271.3	transcript	ENST00000316939.3	protein_coding		4970		chr19	TogoVar
GADL1_chr3_30721197_30899661	30733586	C C	CTCCTTCC others(13): Show CTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	282	0.0036	20	c.139 others(39): Show c.1393-5191_1393-5172dupAGGAAGGAAGGAAGGAAGGA	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	14/14			chr3	TogoVar
GADL1_chr3_30721197_30899661	30741190	A A	ATATGTGT others(13): Show ATATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0014 a0006c0013t0014	a0006c0013t0014g0013 a0006c0013t0014g0013	1	282	0.0036	20	c.139 others(41): Show c.1393-12776_1393-12775insCACACACACACACACACATA	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	14/14			chr3	TogoVar
GADL1_chr3_30721197_30899661	30805734	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18942.hp1 NA18949.hp2 others(3): Show HG02040.hp2 NA18942.hp1 NA18949.hp2 NA19003.hp2 NA19011.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0180 a0001c0001t0001g0227 a0001c0001t0001g0258 others(3): Show a0001c0001t0001g0180 a0001c0001t0001g0227 a0001c0001t0001g0258 a0001c0001t0002g0127 a0001c0001t0003g0051 a0001c0001t0003g0078	6	282	0.0213	20	c.105 others(39): Show c.1051-4666_1051-4647dupAAAAAAAAAAAAAAAAAAAA	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	11/14			chr3	TogoVar
GADL1_chr3_30721197_30899661	30867423	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0118 a0003c0003t0005g0118	1	282	0.0036	20	c.38- others(35): Show c.38-5659_38-5658insATATATATATATATATATAT	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	1/14			chr3	TogoVar
GADL1_chr3_30721197_30899661	30867439	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA18995.hp1 HG01106.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0264 a0001c0001t0002g0253 a0001c0001t0002g0264	2	282	0.0071	20	c.38- others(35): Show c.38-5675_38-5674insGTATATATATATATATATAT	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	1/14			chr3	TogoVar
GADL1_chr3_30721197_30899661	30891032	T T	TCTTCCTT others(13): Show TCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02486.hp2 HG02040.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0078 a0001c0001t0014g0015 a0001c0001t0003g0078 a0001c0001t0014g0015	2	282	0.0071	20	c.37+ others(35): Show c.37+3526_37+3545dupGAAGGAAGGAAGGAAGGAAG	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	1/14			chr3	TogoVar
GADL1_chr3_30721197_30899661	30895247	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02132.hp1 HG02155.hp2 others(11): Show HG02074.hp1 HG02132.hp1 HG02155.hp2 HG03130.hp2 NA18612.hp1 NA18942.hp1 NA18949.hp1 NA18960.hp1 NA18965.hp2 NA18969.hp2 NA19030.hp2 NA19081.hp2 NA19090.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0018 a0001c0001t0022 a0001c0001t0030	a0001c0001t0001g0083 a0001c0001t0001g0227 a0001c0001t0001g0228 others(11): Show a0001c0001t0001g0083 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0002g0233 a0001c0001t0003g0018 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0234 a0001c0001t0004g0011 a0001c0001t0018g0079 a0001c0001t0022g0240 a0001c0001t0030g0003	14	282	0.0497	20	c.-63 others(29): Show c.-634_-633insCACACACACACACACACACA	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding		587		chr3	TogoVar
GAK_chr4_844277_937316	856583	C C	CCACAGGT others(13): Show CCACAGGTGCTCACAGCTGCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00558.hp2 others(17): Show HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG01081.hp2 HG01358.hp2 HG02040.hp1 HG02300.hp1 NA18950.hp2 NA18962.hp1 NA18969.hp1 NA18977.hp2 NA18979.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA19009.hp2 NA19077.hp1 NA19085.hp1 homoSapiens_chm13v2.hp1	a0003 a0010 a0003 a0010	a0003c0006 a0010c0043 a0003c0006 a0010c0043	a0003c0006t0001 a0010c0043t0001 a0003c0006t0001 a0010c0043t0001	a0003c0006t0001g0162 a0003c0006t0001g0287 a0003c0006t0001g0298 others(17): Show a0003c0006t0001g0162 a0003c0006t0001g0287 a0003c0006t0001g0298 a0003c0006t0001g0319 a0003c0006t0001g0353 a0003c0006t0001g0354 a0003c0006t0001g0356 a0003c0006t0001g0358 a0003c0006t0001g0360 a0003c0006t0001g0361 a0003c0006t0001g0362 a0003c0006t0001g0363 a0003c0006t0001g0364 a0003c0006t0001g0365 a0003c0006t0001g0366 a0003c0006t0001g0367 a0003c0006t0001g0368 a0003c0006t0001g0369 a0003c0006t0001g0370 a0010c0043t0001g0359	20	390	0.0513	20	c.328 others(39): Show c.3283+3022_3283+3023insAGCAGCTGTGAGCACCTGTG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	24/27			chr4	TogoVar
GAK_chr4_844277_937316	856615	G G	GTGCTCAC others(13): Show GTGCTCACACCTGCTCACAGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00438.hp2 others(38): Show HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00673.hp2 HG00741.hp1 HG01106.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01261.hp1 HG02015.hp2 HG02040.hp2 HG02486.hp1 HG02735.hp2 HG03017.hp2 HG03491.hp2 HG03492.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18944.hp2 NA18949.hp2 NA18961.hp1 NA18966.hp1 NA18970.hp1 NA18973.hp2 NA18975.hp2 NA18986.hp1 NA18992.hp2 NA18995.hp2 NA18997.hp2 NA19007.hp1 NA19060.hp1 NA19070.hp1 NA19079.hp2 NA19091.hp2 NA20752.hp2	a0001 a0005 a0018 others(2): Show a0001 a0005 a0018 a0020 a0024	a0001c0001 a0001c0004 a0001c0023 others(5): Show a0001c0001 a0001c0004 a0001c0023 a0001c0047 a0005c0044 a0018c0029 a0020c0045 a0024c0020	a0001c0001t0001 a0001c0004t0001 a0001c0023t0001 others(5): Show a0001c0001t0001 a0001c0004t0001 a0001c0023t0001 a0001c0047t0001 a0005c0044t0001 a0018c0029t0008 a0020c0045t0001 a0024c0020t0001	a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0074 others(38): Show a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0004t0001g0016 a0001c0004t0001g0057 a0001c0004t0001g0058 a0001c0004t0001g0061 a0001c0004t0001g0062 a0001c0004t0001g0063 a0001c0004t0001g0064 a0001c0004t0001g0066 a0001c0004t0001g0067 a0001c0004t0001g0068 a0001c0004t0001g0069 a0001c0004t0001g0070 a0001c0004t0001g0071 a0001c0004t0001g0072 a0001c0004t0001g0075 a0001c0004t0001g0076 a0001c0004t0001g0081 a0001c0004t0001g0083 a0001c0004t0001g0085 a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0004t0001g0094 a0001c0004t0001g0095 a0001c0004t0001g0096 a0001c0004t0001g0104 a0001c0004t0001g0106 a0001c0004t0001g0110 a0001c0023t0001g0077 a0001c0047t0001g0065 a0005c0044t0001g0102 a0018c0029t0008g0087 a0020c0045t0001g0093 a0024c0020t0001g0006	41	390	0.1051	20	c.328 others(39): Show c.3283+2990_3283+2991insGCTGTGAGCAGGTGTGAGCA	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	24/27			chr4	TogoVar
GAK_chr4_844277_937316	902596	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02630.hp1 HG02970.hp1 others(3): Show HG02257.hp1 HG02630.hp1 HG02970.hp1 HG03130.hp2 HG03453.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0186 a0001c0001t0001g0282 a0001c0001t0001g0283 others(3): Show a0001c0001t0001g0186 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0002t0001g0258 a0001c0002t0002g0185 a0001c0002t0002g0188	6	390	0.0154	20	c.525 others(37): Show c.525+2040_525+2041insTTTTTTTTTTTTTTTTTTTT	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	5/27			chr4	TogoVar
GAL3ST2_chr2_241771822_241809287	241786137	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02074.hp2 HG00639.hp1 HG02074.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0229 a0003c0003t0001g0231 a0003c0003t0001g0229 a0003c0003t0001g0231	2	314	0.0064	20	c.29+ others(35): Show c.29+9154_29+9155insGTGTGTGTGTGTGTGTGTGT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241808083	A A	ACCCTCCC others(13): Show ACCCTCCCACCCTCCCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0053 a0002c0002t0002g0053	1	314	0.0032	20	c.39 others(31): Show c.3917_*3918insCCCTCCCACCCTCCCTCCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3797		chr2	TogoVar
GALC_chr14_87928014_87998182	87936896	C C	CCATATAT others(13): Show CCATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0008 a0007c0012t0008	a0007c0012t0008g0046 a0007c0012t0008g0046	1	370	0.0027	20	c.191 others(39): Show c.1912-2019_1912-2018insTATATATATATATATATATG	GALC	ENSG00000054983.17	transcript	ENST00000261304.7	protein_coding	16/16			chr14	TogoVar
GALC_chr14_87928014_87998182	87936896	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp1 HG01099.hp2 others(12): Show HG00639.hp1 HG00733.hp1 HG01099.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01928.hp1 HG01978.hp2 HG02004.hp1 HG02258.hp2 HG02280.hp2 HG03688.hp1 NA19004.hp2 NA19057.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0005c0007	a0001c0001t0001 a0001c0006t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0006t0001 a0002c0002t0002 a0005c0007t0002	a0001c0001t0001g0025 a0001c0001t0001g0093 a0001c0001t0001g0229 others(11): Show a0001c0001t0001g0025 a0001c0001t0001g0093 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0247 a0001c0001t0001g0253 a0001c0001t0001g0323 a0001c0006t0001g0254 a0002c0002t0002g0054 a0002c0002t0002g0151 a0002c0002t0002g0305 a0005c0007t0002g0298	15	370	0.0405	20	c.191 others(39): Show c.1912-2019_1912-2018insTATATATATATATATATATA	GALC	ENSG00000054983.17	transcript	ENST00000261304.7	protein_coding	16/16			chr14	TogoVar
GALK2_chr15_49165247_49336882	49192485	G G	GTGTGTAT others(13): Show GTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0038	a0001c0002t0038g0209 a0001c0002t0038g0209	1	348	0.0029	20	c.54- others(35): Show c.54-8676_54-8675insGTGTATATATATATATATAT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49228687	A A	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0193 a0001c0002t0004g0193	1	348	0.0029	20	c.267 others(37): Show c.267-7163_267-7162insATATATATATTTTTTTTTTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49273190	A A	ATGAGTGC others(13): Show ATGAGTGCTTAATGCAAACTC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	348	0.0029	20	c.505 others(37): Show c.505-8774_505-8755dupAGTGCTTAATGCAAACTCTG	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49299709	G G	GCTTTCTT others(13): Show GCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03490.hp1 HG03492.hp1 HG02717.hp2 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0011 a0001c0002t0003 a0001c0002t0011	a0001c0002t0003g0141 a0001c0002t0003g0142 a0001c0002t0011g0200 a0001c0002t0003g0141 a0001c0002t0003g0142 a0001c0002t0011g0200	3	348	0.0086	20	c.967 others(37): Show c.967+7181_967+7200dupCTTTCTTTCTTTCTTTCTTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49299735	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0012	1	348	0.0029	20	c.967 others(37): Show c.967+7239_967+7258dupTTTCTTTCTTTCTTTCTTTC	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALM_chr2_38661114_38739765	38703054	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18991.hp2 HG02615.hp2 NA18991.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0005 a0002c0002t0007 a0001c0003t0005 a0002c0002t0007	a0001c0003t0005g0226 a0002c0002t0007g0300 a0001c0003t0005g0226 a0002c0002t0007g0300	2	328	0.0061	20	c.634 others(39): Show c.634+13180_634+13199dupATATATATATATATATATAT	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALM_chr2_38661114_38739765	38708107	A A	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01261.hp1 HG01346.hp2 others(11): Show HG01071.hp2 HG01261.hp1 HG01346.hp2 HG01516.hp2 HG01952.hp1 HG01981.hp2 HG02135.hp2 HG02735.hp2 HG03491.hp1 HG03492.hp1 NA18953.hp1 NA18979.hp1 NA19084.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0006 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0006 a0002c0002t0016	a0001c0001t0001g0167 a0002c0002t0001g0201 a0002c0002t0001g0258 others(11): Show a0001c0001t0001g0167 a0002c0002t0001g0201 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0006g0275 a0002c0002t0006g0296 a0002c0002t0016g0195	14	328	0.0427	20	c.634 others(39): Show c.634+18216_634+18217insATAAAATAAAATAAAATAAA	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT10_chr5_154185733_154425984	154219834	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG01993.hp1 others(3): Show HG00408.hp2 HG00438.hp1 HG01993.hp1 HG02071.hp1 HG04199.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0002 a0001c0001t0044 a0001c0002t0002 others(2): Show a0001c0001t0002 a0001c0001t0044 a0001c0002t0002 a0001c0002t0012 a0001c0006t0010	a0001c0001t0002g0166 a0001c0001t0044g0091 a0001c0002t0002g0089 others(3): Show a0001c0001t0002g0166 a0001c0001t0044g0091 a0001c0002t0002g0089 a0001c0002t0002g0092 a0001c0002t0012g0130 a0001c0006t0010g0090	6	236	0.0254	20	c.159 others(39): Show c.159+28810_159+28811insACACACACACACACACACAC	GALNT10	ENSG00000164574.16	transcript	ENST00000297107.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GALNT10_chr5_154185733_154425984	154219836	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0121 a0001c0001t0037g0121	1	236	0.0042	20	c.159 others(39): Show c.159+28812_159+28813insACACACACACACACACACAC	GALNT10	ENSG00000164574.16	transcript	ENST00000297107.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GALNT10_chr5_154185733_154425984	154293611	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02293.hp2 HG03490.hp1 HG01255.hp2 HG02293.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 a0001c0001t0001 a0001c0001t0003 a0001c0001t0017	a0001c0001t0001g0147 a0001c0001t0003g0008 a0001c0001t0017g0145 a0001c0001t0001g0147 a0001c0001t0003g0008 a0001c0001t0017g0145	3	236	0.0127	20	c.160 others(37): Show c.160-1204_160-1203insTTTTTTTTTTTTTTTTTTTT	GALNT10	ENSG00000164574.16	transcript	ENST00000297107.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GALNT10_chr5_154185733_154425984	154330908	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00735.hp1 HG00408.hp2 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0002 a0001c0002t0006	a0001c0002t0002g0089 a0001c0002t0006g0127 a0001c0002t0002g0089 a0001c0002t0006g0127	2	236	0.0085	20	c.568 others(37): Show c.568+1181_568+1200dupGTGTGTGTGTGTGTGTGTGT	GALNT10	ENSG00000164574.16	transcript	ENST00000297107.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GALNT10_chr5_154185733_154425984	154396201	T T	TATGAATG others(13): Show TATGAATGAATGAATGAATGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp2 HG01109.hp1 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0009 a0001c0002t0005 a0001c0002t0009	a0001c0002t0005g0180 a0001c0002t0009g0020 a0001c0002t0005g0180 a0001c0002t0009g0020	2	236	0.0085	20	c.105 others(39): Show c.1057-7892_1057-7873dupGAATGAATGAATGAATGAAT	GALNT10	ENSG00000164574.16	transcript	ENST00000297107.11	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GALNT10_chr5_154185733_154425984	154416480	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0213 a0001c0002t0018g0213	1	236	0.0042	20	c.165 others(37): Show c.1654-315_1654-296dupACACACACACACACACACAC	GALNT10	ENSG00000164574.16	transcript	ENST00000297107.11	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GALNT12_chr9_98802670_98855081	98854816	T T	TTATATAT others(13): Show TTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0134 a0001c0001t0003g0134	1	376	0.0027	20	c.57 others(31): Show c.5724_*5725insTATATATATATATATATATA	GALNT12	ENSG00000119514.7	transcript	ENST00000375011.4	protein_coding		4736		chr9	TogoVar
GALNT12_chr9_98802670_98855081	98854842	A A	ATATATAT others(13): Show ATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0006 a0001c0008t0006	a0001c0008t0006g0347 a0001c0008t0006g0347	1	376	0.0027	20	c.57 others(31): Show c.5750_*5751insTATATATATATATATATATG	GALNT12	ENSG00000119514.7	transcript	ENST00000375011.4	protein_coding		4762		chr9	TogoVar
GALNT13_chr2_153866922_154458979	153884766	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0126 a0001c0001t0009g0126	1	214	0.0047	20	c.-17 others(41): Show c.-177+12464_-177+12483dupATATATATATATATATATAT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154237518	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0214 a0001c0001t0021g0214	1	214	0.0047	20	c.312 others(37): Show c.312-4493_312-4492insATATATATATATATATATAT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154269906	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	214	0.0047	20	c.975 others(39): Show c.975+10787_975+10788insATATATATATATATATATAT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154295348	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp1 HG01243.hp1 others(4): Show HG00280.hp1 HG00738.hp1 HG01243.hp1 HG01346.hp1 HG01952.hp2 HG02698.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013	a0001c0001t0002g0106 a0001c0001t0003g0020 a0001c0001t0003g0021 others(4): Show a0001c0001t0002g0106 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0006g0112 a0001c0001t0007g0198 a0001c0001t0008g0019 a0001c0001t0013g0161	7	214	0.0327	20	c.976 others(37): Show c.976-6049_976-6030dupATTTATTTATTTATTTATTT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154417489	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02615.hp2 HG02735.hp1 HG02129.hp1 HG02615.hp2 HG02735.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0001c0001t0056 a0002c0002t0038 a0001c0001t0006 a0001c0001t0056 a0002c0002t0038	a0001c0001t0006g0108 a0001c0001t0056g0068 a0002c0002t0038g0113 a0001c0001t0006g0108 a0001c0001t0056g0068 a0002c0002t0038g0113	3	214	0.0140	20	c.139 others(39): Show c.1395+8423_1395+8442dupATTTATTTATTTATTTATTT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT14_chr2_30905467_31143440	30938384	A A	ACACACAC others(13): Show ACACACACACACACTCTCTCT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03209.hp2 HG03139.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0128 a0001c0002t0001g0020 a0001c0002t0001g0128	2	226	0.0089	20	c.931 others(37): Show c.931+3816_931+3817insAGAGAGAGTGTGTGTGTGTG	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	9/14			chr2	TogoVar
GALNT14_chr2_30905467_31143440	30977092	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	226	0.0044	20	c.300 others(39): Show c.300-10791_300-10790insAAAAAAAAAAAAAAAAAAAA	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	2/14			chr2	TogoVar
GALNT14_chr2_30905467_31143440	31027886	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00438.hp2 others(7): Show HG00323.hp1 HG00438.hp1 HG00438.hp2 HG01071.hp1 HG02273.hp2 HG02615.hp2 HG03225.hp2 NA18966.hp1 NA19088.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0016 a0001c0001t0001g0055 a0001c0001t0001g0059 others(7): Show a0001c0001t0001g0016 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0001g0087 a0001c0001t0001g0107 a0001c0001t0001g0119 a0001c0001t0001g0155 a0001c0002t0001g0036 a0001c0002t0002g0209	10	226	0.0443	20	c.130 others(39): Show c.130-34899_130-34880dupCACACACACACACACACACA	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	1/14			chr2	TogoVar
GALNT14_chr2_30905467_31143440	31087477	A A	AAGGAGAG others(13): Show AAGGAGAGGAGAAGAGAGGAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	226	0.0044	20	c.129 others(39): Show c.129+50461_129+50480dupCTCCTCTCTTCTCCTCTCCT	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	1/14			chr2	TogoVar

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