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
AVEN_chr15_33861227_34044204	33904710	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00609.hp2 others(10): Show HG00323.hp2 HG00408.hp1 HG00609.hp2 HG00735.hp2 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01496.hp1 HG01496.hp2 HG01978.hp1 HG02622.hp2 HG02897.hp2 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0004c0005t0007	a0001c0001t0001g0174 a0001c0001t0001g0207 a0001c0001t0001g0236 others(10): Show a0001c0001t0001g0174 a0001c0001t0001g0207 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0002g0135 a0001c0001t0002g0196 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0110 a0004c0005t0007g0265	13	75	0.1733	16	c.446 others(35): Show c.446-28716_446-28715insGTGTGTGTGTGTGTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33932834	C C	CAAATAAA others(9): Show CAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(21): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG01070.hp1 HG01255.hp2 HG01515.hp1 HG02109.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02698.hp1 HG02886.hp1 HG03139.hp1 HG03540.hp1 HG04199.hp1 NA18747.hp1 NA18993.hp1 NA18993.hp2 NA19007.hp1 NA19007.hp2 NA19043.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0001 a0003c0003t0003 a0004c0004t0001	a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0031 others(21): Show a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0053 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0132 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0197 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0002g0148 a0001c0001t0002g0159 a0001c0001t0002g0186 a0001c0001t0002g0229 a0001c0001t0002g0247 a0001c0001t0005g0024 a0002c0002t0001g0150 a0002c0002t0001g0187 a0003c0003t0003g0007 a0004c0004t0001g0016	24	145	0.1655	16	c.446 others(35): Show c.446-56840_446-56839insATTTATTTATTTATTT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33933491	T T	TCACACAC others(9): Show TCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01978.hp2 HG02976.hp2 others(1): Show HG01884.hp1 HG01978.hp2 HG02976.hp2 NA18988.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0001c0001t0001 a0001c0001t0005 a0002c0002t0001	a0001c0001t0001g0091 a0001c0001t0001g0130 a0001c0001t0005g0095 others(1): Show a0001c0001t0001g0091 a0001c0001t0001g0130 a0001c0001t0005g0095 a0002c0002t0001g0067	4	223	0.0179	16	c.446 others(35): Show c.446-57512_446-57497dupTGTGTGTGTGTGTGTG	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33933524	C C	CACACACA others(9): Show CACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01515.hp2 NA18964.hp1 HG01109.hp1 HG01515.hp2 NA18964.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0003 a0001c0001t0001 a0002c0002t0001 a0003c0003t0003	a0001c0001t0001g0217 a0002c0002t0001g0219 a0003c0003t0003g0008 a0001c0001t0001g0217 a0002c0002t0001g0219 a0003c0003t0003g0008	3	190	0.0158	16	c.446 others(35): Show c.446-57530_446-57529insCTGTGTGTGTGTGTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33933524	C C	CACACACA others(9): Show CACACACACACAGAGAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0005 a0003c0003t0003g0005	1	188	0.0053	16	c.446 others(35): Show c.446-57530_446-57529insCTCTCTGTGTGTGTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVIL_chr12_57792380_57823734	57818182	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA19072.hp2 HG02273.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0071 a0001c0001t0001g0072	2	23	0.0870	16	c.-20 others(31): Show c.-20+431_-20+446dupAAAAAAAAAAAAAAAA	AVIL	ENSG00000135407.11	transcript	ENST00000549994.2	protein_coding	1/19			chr12	TogoVar
AVL9_chr7_32490489_32593726	32503319	G G	GATATATA others(9): Show GATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0034 a0001c0004t0015 a0001c0004t0034	a0001c0004t0015g0120 a0001c0004t0034g0119 a0001c0004t0015g0120 a0001c0004t0034g0119	2	313	0.0064	16	c.93+ others(31): Show c.93+7531_93+7532insATATATATATATATAT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32503367	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0254 a0001c0001t0007g0254	1	95	0.0105	16	c.93+ others(31): Show c.93+7566_93+7567insCACACACACACACACA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32556519	A A	AAATAAAT others(9): Show AAATAAATGAATGAATG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00621.hp1 others(65): Show HG00408.hp1 HG00544.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp2 HG01106.hp1 HG01255.hp2 HG01346.hp1 HG01358.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02074.hp1 HG02083.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02622.hp2 HG02630.hp1 HG03017.hp2 HG03041.hp2 HG03490.hp1 HG03704.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18965.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18978.hp1 NA18984.hp1 NA18989.hp1 NA18989.hp2 NA18992.hp2 NA18998.hp2 NA19002.hp1 NA19005.hp1 NA19010.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19074.hp2 NA19075.hp1 NA19078.hp1 NA19080.hp2 NA19084.hp2 NA19085.hp1 NA19089.hp2 NA19091.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0011 others(1): Show a0001c0001 a0001c0006 a0001c0011 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(26): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0026 a0001c0001t0030 a0001c0001t0037 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0070 a0001c0001t0086 a0001c0001t0098 a0001c0001t0101 a0001c0001t0108 a0001c0001t0112 a0001c0001t0113 a0001c0001t0116 a0001c0006t0003 a0001c0011t0001 a0002c0003t0005	a0001c0001t0001g0014 a0001c0001t0001g0175 a0001c0001t0001g0176 others(65): Show a0001c0001t0001g0014 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0208 a0001c0001t0001g0215 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0003g0015 a0001c0001t0003g0019 a0001c0001t0003g0023 a0001c0001t0003g0030 a0001c0001t0003g0032 a0001c0001t0003g0037 a0001c0001t0003g0226 a0001c0001t0008g0276 a0001c0001t0013g0111 a0001c0001t0016g0188 a0001c0001t0016g0193 a0001c0001t0017g0012 a0001c0001t0017g0020 a0001c0001t0017g0031 a0001c0001t0017g0034 a0001c0001t0017g0035 a0001c0001t0019g0198 a0001c0001t0019g0201 a0001c0001t0019g0234 a0001c0001t0020g0045 a0001c0001t0020g0046 a0001c0001t0020g0047 a0001c0001t0020g0048 a0001c0001t0026g0282 a0001c0001t0030g0203 a0001c0001t0030g0209 a0001c0001t0030g0221 a0001c0001t0037g0281 a0001c0001t0040g0269 a0001c0001t0042g0222 a0001c0001t0043g0033 a0001c0001t0044g0233 a0001c0001t0045g0181 a0001c0001t0045g0225 a0001c0001t0046g0189 a0001c0001t0047g0182 a0001c0001t0047g0204 a0001c0001t0070g0231 a0001c0001t0086g0174 a0001c0001t0098g0218 a0001c0001t0101g0017 a0001c0001t0108g0223 a0001c0001t0112g0235 a0001c0001t0113g0229 a0001c0001t0116g0027 a0001c0006t0003g0013 a0001c0006t0003g0042 a0001c0006t0003g0044 a0001c0011t0001g0039 a0002c0003t0005g0156	68	125	0.5440	16	c.609 others(33): Show c.609+1926_609+1927insAAATGAATGAATGAAT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32556519	A A	AAATGAAT others(9): Show AAATGAATGAATGAATG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02015.hp1 HG00423.hp2 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0206 a0001c0001t0001g0207	2	59	0.0339	16	c.609 others(33): Show c.609+1933_609+1948dupATGAATGAATGAATGA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32566180	A A	ATCTTTTT others(9): Show ATCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01255.hp1 HG01258.hp2 others(9): Show HG01192.hp1 HG01255.hp1 HG01258.hp2 HG01433.hp1 HG01517.hp2 HG01884.hp2 HG02723.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp1 NA19091.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0001c0009 a0002c0005	a0001c0001t0001 a0001c0001t0022 a0001c0001t0023 others(8): Show a0001c0001t0001 a0001c0001t0022 a0001c0001t0023 a0001c0001t0031 a0001c0001t0057 a0001c0002t0117 a0001c0007t0014 a0001c0009t0032 a0001c0009t0056 a0002c0005t0021 a0002c0005t0048	a0001c0001t0001g0178 a0001c0001t0022g0294 a0001c0001t0023g0110 others(9): Show a0001c0001t0001g0178 a0001c0001t0022g0294 a0001c0001t0023g0110 a0001c0001t0031g0291 a0001c0001t0031g0292 a0001c0001t0057g0247 a0001c0002t0117g0217 a0001c0007t0014g0057 a0001c0009t0032g0309 a0001c0009t0056g0311 a0002c0005t0021g0319 a0002c0005t0048g0320	12	69	0.1739	16	c.121 others(35): Show c.1216-3839_1216-3838insCTTTTTTTTTTTTTTT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32572801	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0056 a0001c0009t0056	a0001c0009t0056g0311 a0001c0009t0056g0311	1	55	0.0182	16	c.135 others(33): Show c.1351-397_1351-382dupAAAAAAAAAAAAAAAA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32579602	T T	TATAATAT others(9): Show TATAATATATTATATTA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01433.hp1 HG01517.hp2 others(3): Show HG01106.hp2 HG01433.hp1 HG01517.hp2 HG02145.hp1 HG02896.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0023 a0001c0001t0022 a0001c0001t0023	a0001c0001t0022g0290 a0001c0001t0022g0293 a0001c0001t0022g0294 others(3): Show a0001c0001t0022g0290 a0001c0001t0022g0293 a0001c0001t0022g0294 a0001c0001t0023g0110 a0001c0001t0023g0248 a0001c0001t0023g0275	6	79	0.0759	16	c.168 others(33): Show c.1689-617_1689-616insATAATATATTATATTA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	13/15			chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678880	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02723.hp1 HG03225.hp2 others(4): Show HG02257.hp2 HG02723.hp1 HG03225.hp2 NA18995.hp2 NA19005.hp1 NA19007.hp2 NA19085.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0002c0002t0002 a0004c0005t0001 a0001c0001t0001 a0002c0002t0002 a0004c0005t0001	a0001c0001t0001g0011 a0002c0002t0002g0001 a0002c0002t0002g0025 others(1): Show a0001c0001t0001g0011 a0002c0002t0002g0001 a0002c0002t0002g0025 a0004c0005t0001g0006	7	177	0.0395	16	c.287 others(31): Show c.287+723_287+738dupACACACACACACACAC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AVPR1A_chr12_63137759_63156201	63138005	T T	TCCTCCCT others(9): Show TCCTCCCTCCCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0009 a0002c0007t0009	a0002c0007t0009g0065 a0002c0007t0009g0065	1	444	0.0023	16	c.93 others(27): Show c.9353_*9354insGAGGGAGGGAGGGAGG	AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding		4753		chr12	TogoVar
AVPR1A_chr12_63137759_63156201	63138022	T T	TCTCCCTC others(9): Show TCTCCCTCTCTCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02976.hp1 HG03516.hp2 others(1): Show HG02965.hp2 HG02976.hp1 HG03516.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0026 a0001c0001t0008g0042 a0001c0001t0008g0084 a0001c0001t0008g0026 a0001c0001t0008g0042 a0001c0001t0008g0084	4	350	0.0114	16	c.93 others(27): Show c.9336_*9337insGGAGGGAGAGAGGGAG	AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding		4736		chr12	TogoVar
AVPR1A_chr12_63137759_63156201	63138059	C C	CTCCCTCC others(9): Show CTCCCTCCCTCCTTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0019 a0001c0002t0012g0019	1	215	0.0047	16	c.92 others(27): Show c.9299_*9300insAGGAAGGAGGGAGGGA	AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding		4699		chr12	TogoVar
AVPR1A_chr12_63137759_63156201	63153316	G G	GTCTATCT others(9): Show GTCTATCTATCTATCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 NA19006.hp2 NA19068.hp2 others(1): Show HG02071.hp2 NA19006.hp2 NA19068.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0037 a0001c0002t0001 a0001c0001t0002 a0001c0001t0037 a0001c0002t0001	a0001c0001t0002g0002 a0001c0001t0037g0090 a0001c0002t0001g0001 a0001c0001t0002g0002 a0001c0001t0037g0090 a0001c0002t0001g0001	4	129	0.0310	16	c.-24 others(27): Show c.-2481_-2480insTAGATAGATAGATAGA	AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding		2116		chr12	TogoVar
AVPR1A_chr12_63137759_63156201	63153316	G G	GTCTGTCT others(9): Show GTCTGTCTATCTATCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp2 NA19002.hp1 NA18986.hp2 NA19002.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0007 a0003c0004t0001g0007	2	127	0.0157	16	c.-24 others(27): Show c.-2481_-2480insTAGATAGATAGACAGA	AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding		2116		chr12	TogoVar
AVPR1A_chr12_63137759_63156201	63153330	C C	CTATCTAT others(9): Show CTATCTATCTATCTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 NA18950.hp1 NA18993.hp1 others(1): Show HG03942.hp1 NA18950.hp1 NA18993.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	4	407	0.0098	16	c.-24 others(27): Show c.-2495_-2494insAATAGATAGATAGATA	AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding		2130		chr12	TogoVar
AVPR1A_chr12_63137759_63156201	63153334	C C	CTATCTAT others(9): Show CTATCTATCTATCTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01106.hp2 HG01261.hp2 others(15): Show HG00639.hp2 HG01106.hp2 HG01261.hp2 HG02622.hp2 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02886.hp1 HG03017.hp1 HG03654.hp1 NA18952.hp1 NA18974.hp1 NA18984.hp2 NA18995.hp1 NA18999.hp1 NA19043.hp1 NA19056.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0007	a0001c0001t0005 a0001c0001t0054 a0001c0002t0001 others(2): Show a0001c0001t0005 a0001c0001t0054 a0001c0002t0001 a0002c0003t0020 a0002c0007t0009	a0001c0001t0005g0009 a0001c0001t0005g0016 a0001c0001t0005g0017 others(4): Show a0001c0001t0005g0009 a0001c0001t0005g0016 a0001c0001t0005g0017 a0001c0001t0054g0083 a0001c0002t0001g0001 a0002c0003t0020g0037 a0002c0007t0009g0065	18	416	0.0433	16	c.-24 others(27): Show c.-2499_-2498insAATAGATAGATAGATA	AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding		2134		chr12	TogoVar
AXDND1_chr1_179360971_179559735	179414411	C C	CTTTATTT others(9): Show CTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02135.hp2 NA18939.hp1 others(5): Show HG02040.hp2 HG02135.hp2 NA18939.hp1 NA18964.hp1 NA18965.hp1 NA18980.hp1 NA18998.hp2 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0108 a0001c0002t0001g0111 others(5): Show a0001c0002t0001g0082 a0001c0002t0001g0108 a0001c0002t0001g0111 a0001c0002t0001g0117 a0001c0002t0001g0120 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151	8	86	0.0930	16	c.123 others(35): Show c.1230+3157_1230+3172dupATTTATTTATTTATTT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179417985	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0308 a0004c0005t0001g0308	1	342	0.0029	16	c.123 others(35): Show c.1230+6723_1230+6738dupATTTATTTATTTATTT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179421035	C C	CCCTTCCT others(9): Show CCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0076 a0001c0003t0001g0076	1	44	0.0227	16	c.123 others(35): Show c.1231-8438_1231-8423dupCCTTCCTTCCTTCCTT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179438171	A A	AATAAATA others(9): Show AATAAATAAATAAATAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02055.hp2 HG02109.hp2 others(5): Show HG01099.hp1 HG02055.hp2 HG02109.hp2 HG02486.hp2 HG02559.hp2 HG02723.hp1 NA18906.hp1 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0001 a0001c0006 a0002c0001	a0001c0006t0001 a0002c0001t0001 a0001c0006t0001 a0002c0001t0001	a0001c0006t0001g0103 a0001c0006t0001g0162 a0001c0006t0001g0163 others(5): Show a0001c0006t0001g0103 a0001c0006t0001g0162 a0001c0006t0001g0163 a0001c0006t0001g0164 a0001c0006t0001g0197 a0001c0006t0001g0198 a0001c0006t0001g0199 a0002c0001t0001g0228	8	47	0.1702	16	c.156 others(35): Show c.1563+5840_1563+5841insAATACATAAATAAATA	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	15/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179486138	A A	ACAAAAAA others(9): Show ACAAAAAAACAAAAAAC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0333 a0002c0001t0001g0333	1	353	0.0028	16	c.209 others(35): Show c.2091+2917_2091+2918insCAAAAAAACAAAAAAC	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25			chr1	TogoVar
AXDND1_chr1_179360971_179559735	179486139	A A	AAAAAAAA others(9): Show AAAAAAAACAAAAAACT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00544.hp1 others(66): Show HG00099.hp2 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00673.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02257.hp1 HG02523.hp2 HG02717.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG03017.hp2 HG03486.hp1 HG03491.hp2 HG03540.hp1 HG03688.hp1 HG03710.hp2 HG03927.hp1 HG04199.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18945.hp2 NA18947.hp1 NA18949.hp2 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp2 NA18971.hp1 NA18977.hp1 NA18980.hp2 NA18987.hp2 NA18989.hp2 NA18994.hp2 NA19005.hp2 NA19007.hp2 NA19054.hp1 NA19056.hp2 NA19060.hp1 NA19062.hp2 NA19068.hp2 NA19088.hp1 NA20805.hp2 NA20905.hp2	a0002 a0004 a0005 others(2): Show a0002 a0004 a0005 a0018 a0023	a0002c0001 a0002c0020 a0002c0023 others(4): Show a0002c0001 a0002c0020 a0002c0023 a0004c0005 a0005c0008 a0018c0026 a0023c0027	a0002c0001t0001 a0002c0020t0001 a0002c0023t0001 others(4): Show a0002c0001t0001 a0002c0020t0001 a0002c0023t0001 a0004c0005t0001 a0005c0008t0001 a0018c0026t0001 a0023c0027t0001	a0002c0001t0001g0002 a0002c0001t0001g0006 a0002c0001t0001g0156 others(65): Show a0002c0001t0001g0002 a0002c0001t0001g0006 a0002c0001t0001g0156 a0002c0001t0001g0207 a0002c0001t0001g0208 a0002c0001t0001g0216 a0002c0001t0001g0217 a0002c0001t0001g0218 a0002c0001t0001g0220 a0002c0001t0001g0221 a0002c0001t0001g0223 a0002c0001t0001g0224 a0002c0001t0001g0225 a0002c0001t0001g0227 a0002c0001t0001g0228 a0002c0001t0001g0229 a0002c0001t0001g0230 a0002c0001t0001g0231 a0002c0001t0001g0232 a0002c0001t0001g0233 a0002c0001t0001g0234 a0002c0001t0001g0238 a0002c0001t0001g0240 a0002c0001t0001g0241 a0002c0001t0001g0243 a0002c0001t0001g0244 a0002c0001t0001g0250 a0002c0001t0001g0252 a0002c0001t0001g0254 a0002c0001t0001g0255 a0002c0001t0001g0257 a0002c0001t0001g0259 a0002c0001t0001g0261 a0002c0001t0001g0291 a0002c0001t0001g0292 a0002c0001t0001g0310 a0002c0001t0001g0311 a0002c0001t0001g0312 a0002c0001t0001g0313 a0002c0001t0001g0322 a0002c0001t0001g0323 a0002c0001t0001g0324 a0002c0001t0001g0325 a0002c0001t0001g0326 a0002c0001t0001g0327 a0002c0001t0001g0328 a0002c0001t0001g0329 a0002c0001t0001g0332 a0002c0001t0001g0337 a0002c0001t0001g0339 a0002c0001t0001g0340 a0002c0001t0001g0343 a0002c0001t0001g0344 a0002c0020t0001g0319 a0002c0023t0001g0184 a0002c0023t0001g0186 a0004c0005t0001g0297 a0004c0005t0001g0306 a0004c0005t0001g0307 a0005c0008t0001g0335 a0005c0008t0001g0348 a0005c0008t0001g0349 a0005c0008t0001g0350 a0005c0008t0001g0352 a0005c0008t0001g0353 a0005c0008t0001g0354 a0018c0026t0001g0346 a0023c0027t0001g0334	69	198	0.3485	16	c.209 others(35): Show c.2091+2920_2091+2921insAAAAACAAAAAACTAA	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXIN1_chr16_282440_357723	326370	A A	ATTATATA others(9): Show ATTATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0235 a0001c0003t0003g0235	1	310	0.0032	16	c.879 others(35): Show c.879-11688_879-11687insATATATATATATATAA	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10			chr16	TogoVar
AXL_chr19_41214223_41266766	41218782	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02809.hp1 HG01891.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0023 a0001c0001t0009 a0001c0002t0023	a0001c0001t0009g0280 a0001c0002t0023g0279 a0001c0001t0009g0280 a0001c0002t0023g0279	2	187	0.0107	16	c.-61 others(25): Show c.-611_-610insGTGTGTGTGTGTGTGT	AXL	ENSG00000167601.12	transcript	ENST00000301178.9	protein_coding		440		chr19	TogoVar
AXL_chr19_41214223_41266766	41260298	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp2 HG03195.hp2 HG02280.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0055 a0001c0001t0043 a0001c0001t0055	a0001c0001t0043g0015 a0001c0001t0055g0151 a0001c0001t0043g0015 a0001c0001t0055g0151	2	49	0.0408	16	c.41 others(25): Show c.410_*425dupTTTTTTTTTTTTTTTT	AXL	ENSG00000167601.12	transcript	ENST00000301178.9	protein_coding	20/20	426	INFO_REALIGN_3_PRIME	chr19	TogoVar
B3GALNT2_chr1_235442190_235509452	235498843	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0087 a0001c0001t0012g0087	1	25	0.0400	16	c.113 others(33): Show c.113-4031_113-4016dupTTTTTTTTTTTTTTTT	B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding	1/11			chr1	TogoVar
B3GALT1_chr2_167288001_167879045	167303644	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0035 a0001c0001t0021g0035	1	40	0.0250	16	c.-51 others(37): Show c.-511+10334_-511+10349dupCACACACACACACACA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167400166	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0088 a0001c0001t0017g0088	1	18	0.0556	16	c.-51 others(37): Show c.-510-89999_-510-89984dupGTGTGTGTGTGTGTGT	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167435433	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	45	0.0222	16	c.-51 others(37): Show c.-510-54730_-510-54715dupAAAAAAAAAAAAAAAA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167454196	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0092 a0001c0001t0011g0092	1	96	0.0104	16	c.-51 others(37): Show c.-510-35966_-510-35965insTGTGTGTGTGTGTGTG	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT5_chr21_39607940_39678137	39623233	C C	CCCTTCCT others(9): Show CCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18612.hp2 NA18983.hp1 others(1): Show HG02074.hp1 NA18612.hp2 NA18983.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0156 a0001c0001t0001g0217 a0001c0001t0002g0274 others(1): Show a0001c0001t0001g0156 a0001c0001t0001g0217 a0001c0001t0002g0274 a0001c0001t0010g0157	4	233	0.0172	16	c.-39 others(37): Show c.-392+10169_-392+10170insTCCTTCCTTCCTTCCT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39623237	C C	CCCTTCCT others(9): Show CCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA19066.hp2 HG02257.hp2 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0052 a0002c0002t0081 a0001c0001t0052 a0002c0002t0081	a0001c0001t0052g0234 a0002c0002t0081g0189 a0001c0001t0052g0234 a0002c0002t0081g0189	2	150	0.0133	16	c.-39 others(37): Show c.-392+10173_-392+10174insTCCTTCCTTCCTTCCT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39623241	C C	CCCTTCCT others(9): Show CCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0235 a0001c0001t0030g0235	1	75	0.0133	16	c.-39 others(37): Show c.-392+10210_-392+10225dupTCCTTCCTTCCTTCCT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639346	C C	CTTTCTTT others(9): Show CTTTCTTTCTTTCTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01934.hp1 HG01884.hp2 HG01934.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0056 a0002c0002t0023 a0001c0001t0056 a0002c0002t0023	a0001c0001t0056g0305 a0002c0002t0023g0044 a0001c0001t0056g0305 a0002c0002t0023g0044	2	330	0.0061	16	c.-39 others(35): Show c.-391-7042_-391-7041insTTTCTTTCTTTTTTTC	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639347	T T	TTTCTTTC others(9): Show TTTCTTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA20905.hp1 NA19030.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0014 a0003c0005t0104 a0001c0001t0014 a0003c0005t0104	a0001c0001t0014g0312 a0003c0005t0104g0054 a0001c0001t0014g0312 a0003c0005t0104g0054	2	225	0.0089	16	c.-39 others(35): Show c.-391-7042_-391-7041insTTTCCTTCCTTCCTTC	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639347	T T	TTTCTTTC others(9): Show TTTCTTTCTTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02280.hp1 NA19088.hp1 HG00639.hp2 HG02280.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0036 a0001c0001t0013g0211 a0001c0001t0013g0265 a0001c0001t0002g0036 a0001c0001t0013g0211 a0001c0001t0013g0265	3	226	0.0133	16	c.-39 others(35): Show c.-391-7042_-391-7041insTTTCTTTCCTTCCTTC	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639347	T T	TTTCTTTC others(9): Show TTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01981.hp2 HG02074.hp1 others(1): Show HG01255.hp1 HG01981.hp2 HG02074.hp1 HG02630.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0092 a0002c0002t0095 a0001c0001t0001 a0002c0002t0092 a0002c0002t0095	a0001c0001t0001g0217 a0001c0001t0001g0287 a0002c0002t0092g0218 others(1): Show a0001c0001t0001g0217 a0001c0001t0001g0287 a0002c0002t0092g0218 a0002c0002t0095g0294	4	227	0.0176	16	c.-39 others(35): Show c.-391-7042_-391-7041insTTTCTTTCTTTCCTTC	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639391	C C	CTTCCTTC others(9): Show CTTCCTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0306 a0001c0001t0008g0306	1	275	0.0036	16	c.-39 others(35): Show c.-391-6998_-391-6997insCTTCCTTCCTTCTTTC	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639398	C C	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0041 a0002c0002t0041	a0002c0002t0041g0243 a0002c0002t0041g0243	1	281	0.0036	16	c.-39 others(35): Show c.-391-6993_-391-6992insCTTTCTTTCTTTCTTT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639400	T T	TTCTCTTT others(9): Show TTCTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03942.hp1 HG03654.hp2 HG03942.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0033 a0002c0002t0096 a0001c0001t0033 a0002c0002t0096	a0001c0001t0033g0166 a0002c0002t0096g0314 a0001c0001t0033g0166 a0002c0002t0096g0314	2	176	0.0114	16	c.-39 others(35): Show c.-391-6991_-391-6990insCTCTTTCTTTCTTTCT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639400	T T	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03471.hp2 HG03834.hp1 others(2): Show HG00642.hp1 HG03471.hp2 HG03834.hp1 HG03834.hp2 NA18983.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0004	a0001c0001t0001g0210 a0001c0001t0002g0024 a0001c0001t0002g0276 others(2): Show a0001c0001t0001g0210 a0001c0001t0002g0024 a0001c0001t0002g0276 a0001c0001t0005g0195 a0002c0002t0004g0187	5	179	0.0279	16	c.-39 others(35): Show c.-391-6952_-391-6937dupCTTTCTTTCTTTCTTT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639462	T T	TTCTTTTT others(9): Show TTCTTTTTTTCTTTCTC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0091 a0002c0002t0091	a0002c0002t0091g0168 a0002c0002t0091g0168	1	314	0.0032	16	c.-39 others(35): Show c.-391-6927_-391-6926insTTTTTTCTTTCTCTCT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GAT1_chr11_134373508_134417242	134403983	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0281 a0001c0001t0002g0281	1	122	0.0082	16	c.-28 others(35): Show c.-282+7808_-282+7823dupTATATATATATATATA	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5			chr11	TogoVar
B3GAT1_chr11_134373508_134417242	134404027	A A	ATATATAT others(9): Show ATATATATTTATTTATT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0225 a0001c0003t0004g0225	1	315	0.0032	16	c.-28 others(35): Show c.-282+7779_-282+7780insAATAAATAAATATATA	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5			chr11	TogoVar
B3GAT2_chr6_70851679_70962060	70879480	G G	GATTCATT others(9): Show GATTCATTCATTCATTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG01192.hp1 others(43): Show HG00099.hp1 HG00408.hp1 HG01192.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02523.hp2 HG02630.hp2 HG03225.hp2 HG03471.hp2 NA18747.hp1 NA18940.hp2 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18955.hp1 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18967.hp2 NA18981.hp1 NA18984.hp1 NA18990.hp2 NA18997.hp1 NA19000.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19056.hp2 NA19065.hp2 NA19070.hp1 NA19078.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 others(19): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0032 a0001c0001t0033 a0001c0001t0050 a0001c0001t0052 a0001c0001t0060 a0001c0001t0071 a0001c0001t0072 a0001c0001t0104 a0001c0001t0109 a0001c0001t0111 a0001c0002t0011 a0001c0002t0022 a0001c0002t0026 a0001c0002t0030 a0001c0002t0039 a0001c0002t0083 a0001c0002t0084 a0001c0002t0093 a0001c0002t0094	a0001c0001t0002g0001 a0001c0001t0002g0035 a0001c0001t0002g0038 others(42): Show a0001c0001t0002g0001 a0001c0001t0002g0035 a0001c0001t0002g0038 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0051 a0001c0001t0002g0059 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0121 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0159 a0001c0001t0002g0174 a0001c0001t0004g0057 a0001c0001t0012g0010 a0001c0001t0012g0011 a0001c0001t0012g0023 a0001c0001t0012g0026 a0001c0001t0012g0028 a0001c0001t0032g0005 a0001c0001t0032g0027 a0001c0001t0033g0076 a0001c0001t0050g0022 a0001c0001t0052g0021 a0001c0001t0060g0120 a0001c0001t0071g0039 a0001c0001t0072g0037 a0001c0001t0104g0304 a0001c0001t0109g0309 a0001c0001t0111g0313 a0001c0002t0011g0269 a0001c0002t0022g0265 a0001c0002t0022g0268 a0001c0002t0022g0298 a0001c0002t0026g0180 a0001c0002t0026g0208 a0001c0002t0030g0262 a0001c0002t0030g0263 a0001c0002t0030g0301 a0001c0002t0039g0246 a0001c0002t0083g0209 a0001c0002t0084g0243 a0001c0002t0093g0267 a0001c0002t0094g0274	46	283	0.1625	16	c.736 others(35): Show c.736+14632_736+14647dupGAATGAATGAATGAAT	B3GAT2	ENSG00000112309.11	transcript	ENST00000230053.11	protein_coding	2/3			chr6	TogoVar

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