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
ATP9A_chr20_51591514_51773390	51635802	G G	GAGGGAGG others(33): Show GAGGGAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00735.hp1 HG00738.hp1 others(27): Show HG00438.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG02004.hp2 HG02015.hp2 HG02071.hp2 HG02080.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG03239.hp1 HG03516.hp2 HG03710.hp1 NA18943.hp1 NA18961.hp2 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18979.hp2 NA18983.hp1 NA18989.hp1 NA18998.hp1 NA19000.hp2 NA19056.hp1 NA19056.hp2 NA19081.hp2 NA19084.hp2 NA20129.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0031 a0001c0001t0058 a0001c0001t0069 a0001c0001t0070 a0001c0001t0074 a0001c0007t0001	a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0194 others(27): Show a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0194 a0001c0001t0001g0274 a0001c0001t0002g0195 a0001c0001t0003g0080 a0001c0001t0003g0169 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0267 a0001c0001t0006g0003 a0001c0001t0006g0059 a0001c0001t0006g0262 a0001c0001t0007g0268 a0001c0001t0009g0020 a0001c0001t0011g0021 a0001c0001t0020g0027 a0001c0001t0020g0103 a0001c0001t0021g0035 a0001c0001t0021g0042 a0001c0001t0021g0100 a0001c0001t0023g0019 a0001c0001t0031g0160 a0001c0001t0058g0014 a0001c0001t0069g0216 a0001c0001t0070g0218 a0001c0001t0074g0008 a0001c0007t0001g0023	30	85	0.3529	40	c.166 others(59): Show c.1668+3540_1668+3541insTCCTTCCTTCCTTCCTTCCTTCCTTC CTCCCTTCCTCCCT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51635802	G G	GAGGGAGG others(33): Show GAGGGAGGAAGGGAGGAAGGGAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0228 a0001c0001t0006g0228	1	56	0.0179	40	c.166 others(59): Show c.1668+3540_1668+3541insTCCTTCCTTCCTTCCTTCCTCCCTTC CTCCCTTCCTCCCT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9B_chr18_79064394_79383283	79256286	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0269 a0004c0008t0001g0269	1	258	0.0039	40	c.126 others(59): Show c.1268+2746_1268+2747insTATATATATATATATATATATATATA TATACACACACACA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	12/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATRNL1_chr10_115088365_115953999	115442270	G G	GCTCTCTC others(33): Show GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0024 a0001c0001t0024g0024	1	76	0.0132	40	c.332 others(61): Show c.3322+16002_3322+16003insCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3597071	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02809.hp2 HG02486.hp1 HG02809.hp2	a0001 a0001	a0001c0013 a0001c0014 a0001c0013 a0001c0014	a0001c0013t0008 a0001c0014t0002 a0001c0013t0008 a0001c0014t0002	a0001c0013t0008g0171 a0001c0014t0002g0174 a0001c0013t0008g0171 a0001c0014t0002g0174	2	53	0.0377	40	c.346 others(57): Show c.3469+645_3469+646insTATATATATATATATATATATATATATA TATATATAAATA	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77651217	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	17	0.0588	40	c.455 others(57): Show c.4557+896_4557+897insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	15/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77790990	C C	CTATAAAT others(33): Show CTATAAATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0073 a0001c0001t0005g0073	1	85	0.0118	40	c.-49 others(51): Show c.-4990_-4989insTATATATATATATATATATATATATATATATATA TTTATA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding		4775		chrX	TogoVar
ATXN1_chr6_16294112_16766460	16730487	G G	GTGTATAT others(33): Show GTGTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0034 a0002c0011t0001g0034	1	45	0.0222	40	c.-61 others(61): Show c.-615+22745_-615+22746insTATATATATATATATATATATATA TATATATATATATACA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7			chr6	TogoVar
ATXN2_chr12_111447214_111604315	111576137	T T	TAACATAA others(33): Show TAACATAACATAACATAACATAACATAACATAACATCACAC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0104 a0002c0002t0001g0104	1	152	0.0066	40	c.252 others(59): Show c.252-20219_252-20218insGTGTGATGTTATGTTATGTTATGTTA TGTTATGTTATGTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN7L1_chr7_105599772_105881599	105664575	G G	GTGTGTGT others(33): Show GTGTGTGTATGTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0169 a0001c0001t0011g0169	1	190	0.0053	40	c.578 others(55): Show c.578+490_578+491insTATATATATATATATATATATATACACACA CATACACACA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692424	T T	TCCTTCCT others(33): Show TCCTTCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0094 a0001c0001t0008g0094	1	132	0.0076	40	c.356 others(59): Show c.356-27137_356-27136insGAGGGAGGAAGGAAGGAAGGAGGGAG GGAGGGAAGGAAGG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692424	T T	TCCTTCCT others(33): Show TCCTTCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA19091.hp2 HG02135.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0019 a0001c0001t0011 a0001c0001t0019	a0001c0001t0011g0143 a0001c0001t0019g0247 a0001c0001t0011g0143 a0001c0001t0019g0247	2	133	0.0150	40	c.356 others(59): Show c.356-27137_356-27136insGAGGAAGGAAGGAAGGAAGGAGGGAG GGAGGGAAGGAAGG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692424	T T	TCCTTCCT others(33): Show TCCTTCCTTCCCTCCCTCCTTCCTTCCTTCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG06807.hp2 HG01109.hp1 HG06807.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0022 a0003c0003t0006 a0001c0001t0022 a0003c0003t0006	a0001c0001t0022g0189 a0003c0003t0006g0079 a0001c0001t0022g0189 a0003c0003t0006g0079	2	133	0.0150	40	c.356 others(59): Show c.356-27137_356-27136insGAGGGAGGAAGGAAGGAAGGAAGGAG GGAGGGAAGGAAGG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692424	T T	TCCTTCCT others(33): Show TCCTTCCTTCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19009.hp2 NA19010.hp1 HG02145.hp1 NA19009.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0038 a0001c0001t0054 a0001c0001t0002 a0001c0001t0038 a0001c0001t0054	a0001c0001t0002g0185 a0001c0001t0038g0160 a0001c0001t0054g0193 a0001c0001t0002g0185 a0001c0001t0038g0160 a0001c0001t0054g0193	3	134	0.0224	40	c.356 others(59): Show c.356-27137_356-27136insGAGGAAGGAAGGAAGGAGGGAGGGAG GGAAGGAAGGAAGG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692424	T T	TCCTTCCT others(33): Show TCCTTCCTTCCTTCCCTCCCTCCTTCCTTCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0159 a0001c0001t0003g0159	1	132	0.0076	40	c.356 others(59): Show c.356-27137_356-27136insGAGGGAGGAAGGAAGGAAGGAGGGAG GGAAGGAAGGAAGG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692424	T T	TCCTTCCT others(33): Show TCCTTCCTTCCTTCCCTCCCTCCTTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG02071.hp2 others(1): Show HG01516.hp2 HG01517.hp1 HG02071.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0043 a0001c0001t0002g0080 a0001c0001t0002g0081 others(1): Show a0001c0001t0001g0043 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0006g0158	4	135	0.0296	40	c.356 others(59): Show c.356-27137_356-27136insGAGGAAGGAAGGAAGGAAGGAGGGAG GGAAGGAAGGAAGG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692424	T T	TCCTTCCT others(33): Show TCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0046 a0001c0001t0008g0046	1	132	0.0076	40	c.356 others(59): Show c.356-27137_356-27136insGAGGAAGGAAGGAAGGAAGGAAGGAG GGAAGGAAGGAAGG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105727748	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0190 a0001c0001t0036g0190	1	247	0.0040	40	c.355 others(59): Show c.355+60855_355+60856insCATATATATATATATATATATATATA TATATATATATATA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105731748	A A	AAAAAGAA others(33): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03669.hp1 HG03831.hp2 HG01192.hp1 HG03669.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0018 a0001c0001t0004 a0001c0001t0005 a0001c0001t0018	a0001c0001t0004g0123 a0001c0001t0005g0038 a0001c0001t0018g0120 a0001c0001t0004g0123 a0001c0001t0005g0038 a0001c0001t0018g0120	3	54	0.0556	40	c.355 others(59): Show c.355+56816_355+56855dupCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105733517	C C	CCCATCCA others(33): Show CCCATCCATCCATTCATCCATCCACCCATCCATCCATCCTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG00738.hp2 others(80): Show HG00323.hp2 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02300.hp1 HG02559.hp1 HG02622.hp1 HG02647.hp2 HG02738.hp2 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03225.hp1 HG03471.hp1 HG03491.hp1 HG03516.hp2 HG03579.hp1 HG03688.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18948.hp1 NA18954.hp2 NA18962.hp2 NA18970.hp1 NA18971.hp2 NA18989.hp2 NA18994.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19009.hp1 NA19010.hp2 NA19054.hp1 NA19056.hp1 NA19060.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0007 others(1): Show a0001c0001 a0001c0005 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0028 a0001c0001t0034 a0001c0001t0035 a0001c0001t0042 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0005t0001 a0001c0007t0033 a0002c0002t0016 a0002c0002t0017	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0015 others(80): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0030 a0001c0001t0001g0045 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0100 a0001c0001t0001g0147 a0001c0001t0001g0170 a0001c0001t0001g0217 a0001c0001t0001g0238 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0002g0005 a0001c0001t0002g0026 a0001c0001t0002g0078 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0162 a0001c0001t0002g0201 a0001c0001t0002g0214 a0001c0001t0002g0225 a0001c0001t0003g0021 a0001c0001t0003g0042 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0056 a0001c0001t0003g0142 a0001c0001t0003g0152 a0001c0001t0003g0161 a0001c0001t0003g0177 a0001c0001t0003g0179 a0001c0001t0004g0128 a0001c0001t0004g0135 a0001c0001t0004g0137 a0001c0001t0004g0203 a0001c0001t0005g0184 a0001c0001t0005g0233 a0001c0001t0005g0237 a0001c0001t0006g0014 a0001c0001t0006g0025 a0001c0001t0006g0027 a0001c0001t0007g0034 a0001c0001t0007g0067 a0001c0001t0007g0167 a0001c0001t0008g0046 a0001c0001t0008g0094 a0001c0001t0008g0131 a0001c0001t0008g0178 a0001c0001t0009g0020 a0001c0001t0009g0055 a0001c0001t0009g0146 a0001c0001t0010g0095 a0001c0001t0010g0111 a0001c0001t0011g0012 a0001c0001t0011g0099 a0001c0001t0011g0143 a0001c0001t0011g0156 a0001c0001t0011g0163 a0001c0001t0013g0109 a0001c0001t0014g0061 a0001c0001t0014g0136 a0001c0001t0015g0192 a0001c0001t0019g0183 a0001c0001t0019g0247 a0001c0001t0020g0250 a0001c0001t0025g0072 a0001c0001t0028g0007 a0001c0001t0034g0180 a0001c0001t0035g0207 a0001c0001t0042g0121 a0001c0001t0046g0035 a0001c0001t0047g0133 a0001c0001t0048g0031 a0001c0001t0049g0087 a0001c0005t0001g0209 a0001c0007t0033g0157 a0002c0002t0016g0066 a0002c0002t0016g0200 a0002c0002t0017g0226	83	192	0.4323	40	c.355 others(59): Show c.355+55086_355+55087insAAGGATGGATGGATGGGTGGATGGAT GAATGGATGGATGG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7_chr3_63858867_64008462	63870766	T T	TAGACATT others(33): Show TAGACATTCTTTCCTAAAGGAAATCTGTATCCTGGCCTTCC	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	298	0.0034	40	c.-11 others(59): Show c.-111+6609_-111+6648dupAGACATTCTTTCCTAAAGGAAATCTG TATCCTGGCCTTCC	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0085 a0006c0006t0001g0085	1	213	0.0047	40	c.-41 others(51): Show c.-4104_-4103insGTGTGTGTGTGTATATATATATATATATATATAT ATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01433.hp2 HG01515.hp1 others(5): Show HG00140.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG02738.hp1 HG03516.hp1 HG04115.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0016 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0099	8	220	0.0364	40	c.-41 others(51): Show c.-4104_-4103insGTGTGTGTGTATATATATATATATATATATATAT ATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	1	213	0.0047	40	c.-41 others(51): Show c.-4104_-4103insGTGTATATATATATATATATATATATATATATAT ATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	1	213	0.0047	40	c.-41 others(51): Show c.-4104_-4103insGTATATATATATATATATATATATATATATATAT ATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(33): Show TATATATATATATATATATATATATATGTATACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 NA18522.hp2 HG02965.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0060 a0001c0001t0001g0064	2	214	0.0093	40	c.-41 others(51): Show c.-4104_-4103insGTGTGTGTGTATACATATATATATATATATATAT ATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AUTS2_chr7_69593475_70798506	70579244	T T	TAAAAAAA others(33): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03579.hp1 HG02055.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0034 a0002c0002t0031 a0001c0001t0034 a0002c0002t0031	a0001c0001t0034g0018 a0002c0002t0031g0007 a0001c0001t0034g0018 a0002c0002t0031g0007	2	9	0.2222	40	c.691 others(61): Show c.691-119307_691-119306insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AXDND1_chr1_179360971_179559735	179394592	A A	AAAAATAA others(33): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01358.hp2 HG02145.hp2 others(5): Show HG00280.hp2 HG01358.hp2 HG02145.hp2 HG02809.hp2 HG02818.hp2 HG03041.hp1 HG03130.hp1 NA21309.hp2	a0003 a0006 a0024 a0003 a0006 a0024	a0003c0004 a0006c0009 a0024c0034 a0003c0004 a0006c0009 a0024c0034	a0003c0004t0001 a0006c0009t0001 a0024c0034t0001 a0003c0004t0001 a0006c0009t0001 a0024c0034t0001	a0003c0004t0001g0005 a0003c0004t0001g0031 a0003c0004t0001g0043 others(5): Show a0003c0004t0001g0005 a0003c0004t0001g0031 a0003c0004t0001g0043 a0006c0009t0001g0192 a0006c0009t0001g0194 a0006c0009t0001g0195 a0006c0009t0001g0196 a0024c0034t0001g0174	8	293	0.0273	40	c.100 others(57): Show c.1005-485_1005-484insAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATA	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AZU1_chr19_822837_837018	835488	A A	AGCCCCCA others(33): Show AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	299	0.0033	40	c.36 others(51): Show c.3611_*3612insGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3471		chr19	TogoVar
B3GALT1_chr2_167288001_167879045	167512637	C C	CATATACA others(33): Show CATATACATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0091 a0001c0001t0013g0091	1	52	0.0192	40	c.-41 others(61): Show c.-410+22365_-410+22366insCATATATATATATATATATATATA TATATATATATATATA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167876019	G G	GTATATAT others(33): Show GTATATATATATATATACGTATATATATATATATATACGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG02717.hp2 HG01496.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0084 a0001c0001t0006g0071 a0001c0001t0001g0084 a0001c0001t0006g0071	2	100	0.0200	40	c.59 others(51): Show c.5999_*6000insTATATATATATATATACGTATATATATATATATA TACGTA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		1975		chr2	TogoVar
B3GLCT_chr13_31194975_31337276	31196186	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0020 a0001c0001t0007g0020	1	113	0.0088	40	c.-38 others(51): Show c.-3899_-3898insATATATATATATATATATATATATATATATATAT ATATAT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3788		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0007 a0002c0002t0011g0007	1	39	0.0256	40	c.-38 others(51): Show c.-3878_-3877insTATATATATATATATATATATATATATATATATA TATATT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp2 NA19070.hp2 NA18986.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0052 a0001c0001t0004g0041 a0001c0001t0004g0052	2	40	0.0500	40	c.-38 others(51): Show c.-3878_-3877insTATATATATATATATATATATATATATATATATA TTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0060 a0001c0001t0004g0060	1	39	0.0256	40	c.-38 others(51): Show c.-3878_-3877insTATATATATATATATATATATATATATATATATT TTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0231 a0002c0002t0002g0231	1	39	0.0256	40	c.-38 others(51): Show c.-3878_-3877insTATATATATATATATATATATATATATTTTTTTT TTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316407	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	58	0.0172	40	c.106 others(59): Show c.1065-1135_1065-1134insTATATATATATATATATATATATATA TATATATATATATA	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GNT5_chr3_183248253_183278385	183262124	C C	CGTTTTAT others(33): Show CGTTTTATGATACTTTATTATATACACTAAGGGTTAGTCTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02647.hp1 HG02735.hp1 others(2): Show HG01952.hp1 HG02647.hp1 HG02735.hp1 HG02976.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0017 a0001c0001t0002 a0001c0001t0005 a0001c0001t0017	a0001c0001t0002g0042 a0001c0001t0005g0014 a0001c0001t0005g0046 others(2): Show a0001c0001t0002g0042 a0001c0001t0005g0014 a0001c0001t0005g0046 a0001c0001t0005g0214 a0001c0001t0017g0067	5	296	0.0169	40	c.-30 others(59): Show c.-301-7277_-301-7238dupTTATATACACTAAGGGTTAGTCTTGT TTTATGATACTTTA	B3GNT5	ENSG00000176597.12	transcript	ENST00000326505.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
B3GNT6_chr11_77029398_77046973	77038042	A A	AGGAGGGG others(33): Show AGGAGGGGGAGGAGGAGGGGGAGGAGTGGGAGGGGAATGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(114): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01361.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02273.hp2 HG02559.hp1 HG02602.hp1 HG02683.hp1 HG02735.hp2 HG03195.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG04184.hp2 NA18940.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18957.hp2 NA18961.hp2 NA18964.hp1 NA18966.hp2 NA18972.hp2 NA18974.hp2 NA18980.hp2 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19009.hp1 NA19011.hp2 NA19058.hp2 NA19060.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19080.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19240.hp1 NA20752.hp1 NA20905.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0003 a0007c0007 a0001c0001 a0002c0003 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0024 a0002c0003t0006 a0007c0007t0009	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0022 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0057 a0001c0001t0001g0068 a0001c0001t0002g0001 a0001c0001t0003g0001 a0001c0001t0008g0001 a0001c0001t0009g0001 a0001c0001t0009g0007 a0001c0001t0009g0060 a0001c0001t0011g0001 a0001c0001t0024g0001 a0002c0003t0006g0001 a0002c0003t0006g0035 a0007c0007t0009g0001	117	120	0.9750	40	c.1-1 others(53): Show c.1-1510_1-1509insGGAGGGGGAGGAGGAGGGGGAGGAGTGGGAGG GGAATGAG	B3GNT6	ENSG00000198488.10	transcript	ENST00000622824.1	protein_coding	1/1			chr11	TogoVar
B3GNTL1_chr17_82937149_83056770	82972109	C C	CGACCACA others(33): Show CGACCACACCACACTCATAGGGGCCAGAAGGACCCGGTACT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG04199.hp1 HG04199.hp2 HG03942.hp2 HG04199.hp1 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0002t0025 a0001c0003t0009 a0001c0002t0002 a0001c0002t0025 a0001c0003t0009	a0001c0002t0002g0076 a0001c0002t0025g0095 a0001c0003t0009g0213 a0001c0002t0002g0076 a0001c0002t0025g0095 a0001c0003t0009g0213	3	263	0.0114	40	c.460 others(57): Show c.460-6364_460-6363insAGTACCGGGTCCTTCTGGCCCCTATGAG TGTGGTGTGGTC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82972909	A A	ACCTGGTA others(33): Show ACCTGGTACTGACCACACCACACCACAGGGGCCAGAAGGAC	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0031 a0001c0004t0031	a0001c0004t0031g0036 a0001c0004t0031g0036	1	266	0.0038	40	c.460 others(57): Show c.460-7164_460-7163insGTCCTTCTGGCCCCTGTGGTGTGGTGTG GTCAGTACCAGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83018241	A A	AAACACGG others(33): Show AAACACGGCGTGCCTGTATCAGGTACCACACGTGCTCCATG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00609.hp1 others(38): Show HG00408.hp2 HG00597.hp1 HG00609.hp1 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01106.hp2 HG01257.hp1 HG01346.hp2 HG01496.hp2 HG02132.hp1 HG02155.hp1 HG02572.hp1 HG02683.hp1 HG02896.hp2 HG03225.hp1 HG03453.hp2 HG03579.hp1 HG06807.hp2 NA18612.hp1 NA18945.hp1 NA18947.hp2 NA18964.hp1 NA18966.hp2 NA18973.hp1 NA18983.hp2 NA18986.hp2 NA18995.hp2 NA19002.hp1 NA19007.hp1 NA19043.hp1 NA19062.hp1 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19088.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0006 others(6): Show a0001c0002 a0001c0004 a0001c0006 a0001c0014 a0001c0016 a0002c0005 a0002c0010 a0002c0015 a0002c0022	a0001c0002t0010 a0001c0002t0016 a0001c0004t0001 others(18): Show a0001c0002t0010 a0001c0002t0016 a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0004t0026 a0001c0004t0031 a0001c0006t0001 a0001c0006t0002 a0001c0006t0006 a0001c0006t0008 a0001c0006t0010 a0001c0006t0011 a0001c0006t0023 a0001c0006t0033 a0001c0014t0018 a0001c0016t0001 a0002c0005t0003 a0002c0010t0007 a0002c0015t0003 a0002c0022t0003	a0001c0002t0010g0133 a0001c0002t0016g0135 a0001c0002t0016g0136 others(37): Show a0001c0002t0010g0133 a0001c0002t0016g0135 a0001c0002t0016g0136 a0001c0004t0001g0002 a0001c0004t0001g0022 a0001c0004t0001g0027 a0001c0004t0001g0029 a0001c0004t0001g0033 a0001c0004t0001g0034 a0001c0004t0001g0037 a0001c0004t0001g0038 a0001c0004t0001g0040 a0001c0004t0001g0042 a0001c0004t0001g0043 a0001c0004t0001g0044 a0001c0004t0001g0047 a0001c0004t0001g0049 a0001c0004t0002g0051 a0001c0004t0010g0035 a0001c0004t0026g0048 a0001c0004t0031g0036 a0001c0006t0001g0023 a0001c0006t0002g0032 a0001c0006t0002g0041 a0001c0006t0006g0007 a0001c0006t0006g0025 a0001c0006t0006g0039 a0001c0006t0008g0021 a0001c0006t0010g0011 a0001c0006t0011g0016 a0001c0006t0011g0028 a0001c0006t0023g0031 a0001c0006t0033g0046 a0001c0014t0018g0050 a0001c0016t0001g0009 a0001c0016t0001g0010 a0002c0005t0003g0174 a0002c0010t0007g0196 a0002c0015t0003g0045 a0002c0022t0003g0030	41	262	0.1565	40	c.298 others(57): Show c.298-3723_298-3722insCATGGAGCACGTGTGGTACCTGATACAG GCACGCCGTGTT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B4GALNT3_chr12_454939_568509	499553	C C	CTCCTAGC others(33): Show CTCCTAGCCCGTGGAGCCCGTGCTCTCACTATCTAGAACAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0092 a0011c0015t0092	a0011c0015t0092g0234 a0011c0015t0092g0234	1	380	0.0026	40	c.170 others(59): Show c.170-35574_170-35573insGTCCTAGCCCGTGGAGCCCGTGCTCT CACTATCTAGAACA	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	499593	C C	CTCCTAGC others(33): Show CTCCTAGCCCGTGGAGCCCGTGCTCTCACTATCTAGAACAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG03225.hp2 HG01884.hp1 HG02257.hp1 HG03225.hp2	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0034 a0003c0004 a0006c0007 a0002c0034 a0003c0004 a0006c0007	a0002c0034t0072 a0003c0004t0020 a0006c0007t0067 a0002c0034t0072 a0003c0004t0020 a0006c0007t0067	a0002c0034t0072g0210 a0003c0004t0020g0189 a0006c0007t0067g0205 a0002c0034t0072g0210 a0003c0004t0020g0189 a0006c0007t0067g0205	3	376	0.0080	40	c.170 others(59): Show c.170-35534_170-35533insGTCCTAGCCCGTGGAGCCCGTGCTCT CACTATCTAGAACA	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALT1_chr9_33105642_33172336	33111276	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0289 a0001c0001t0021g0289	1	280	0.0036	40	c.21 others(51): Show c.2177_*2178insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	6/6	2177		chr9	TogoVar
BABAM2_chr2_27885729_28343901	28112147	T T	TTCTTTCT others(33): Show TTCTTTCTTTCTTTCTTTCTTTCCTTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	123	0.0081	40	c.571 others(59): Show c.571-17123_571-17122insCTTTCTTTCTTTCTTTCTTTCCTTCC CTCCCTCCCTCCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112147	T T	TTCTTTCT others(33): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	123	0.0081	40	c.571 others(59): Show c.571-17123_571-17122insCTTTCTTTCTTTCTTTCTTTCTTTCC CTCCCTCCCTCCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112193	C C	CCTTCCCT others(33): Show CCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	110	0.0091	40	c.571 others(59): Show c.571-17077_571-17076insTTCCCTCCCTCCCTCCCTTCCTTCCT TCCTTCCTTCCTTC	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112197	C C	CCTTCCCT others(33): Show CCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	74	0.0135	40	c.571 others(59): Show c.571-17073_571-17072insTTCCCTCCCTCCCTCCCTTCCTTCCT TCCTTCCTTCCTTC	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BACE2_chr21_41163160_41287530	41179506	G G	GGGGTGAG others(33): Show GGGGTGAGTGAGGGTGTCCAGGGTGAGGAGTGAGGGTGTCA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01099.hp1 HG01106.hp1 others(17): Show HG00642.hp1 HG01099.hp1 HG01106.hp1 HG01261.hp1 HG01515.hp1 HG01934.hp1 HG02257.hp2 HG02602.hp2 HG02647.hp1 HG02683.hp1 HG03041.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0035 a0001c0002t0001 a0001c0002t0023 a0001c0002t0055 a0001c0002t0060	a0001c0001t0001g0187 a0001c0001t0001g0232 a0001c0001t0002g0157 others(15): Show a0001c0001t0001g0187 a0001c0001t0001g0232 a0001c0001t0002g0157 a0001c0001t0003g0154 a0001c0001t0003g0222 a0001c0001t0006g0001 a0001c0001t0006g0101 a0001c0001t0007g0051 a0001c0001t0035g0114 a0001c0002t0001g0046 a0001c0002t0001g0057 a0001c0002t0001g0140 a0001c0002t0001g0156 a0001c0002t0001g0166 a0001c0002t0001g0247 a0001c0002t0023g0193 a0001c0002t0055g0185 a0001c0002t0060g0144	20	270	0.0741	40	c.312 others(59): Show c.312+10958_312+10997dupGAGTGAGGGTGTCAGGGTGAGTGAGG GTGTCCAGGGTGAG	BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr21	TogoVar

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