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
ULK4_chr3_41241599_41967103	41809165	CAAAAAAA others(5): Show CAAAAAAAAAACA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02257.hp2 HG02615.hp1 others(1): Show HG01106.hp1 HG02257.hp2 HG02615.hp1 HG04115.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0024 a0001c0001 a0013c0024	a0001c0001t0001 a0013c0024t0001 a0001c0001t0001 a0013c0024t0001	a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0047 others(1): Show a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0047 a0013c0024t0001g0027	4	64	0.0625	-12	c.184 others(31): Show c.1849-8884_1849-8873delTGTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	19/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41842188	AATAAAAA others(5): Show AATAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp1 HG02258.hp2 others(8): Show HG01109.hp2 HG02145.hp1 HG02258.hp2 HG02451.hp1 HG02572.hp2 HG02818.hp1 HG02976.hp1 HG03453.hp1 HG03453.hp2 HG03540.hp1 HG06807.hp1	a0002 a0005 a0008 others(1): Show a0002 a0005 a0008 a0009	a0002c0004 a0002c0009 a0005c0013 others(2): Show a0002c0004 a0002c0009 a0005c0013 a0008c0010 a0009c0008	a0002c0004t0002 a0002c0009t0002 a0005c0013t0002 others(2): Show a0002c0004t0002 a0002c0009t0002 a0005c0013t0002 a0008c0010t0002 a0009c0008t0002	a0002c0004t0002g0014 a0002c0004t0002g0015 a0002c0004t0002g0017 others(8): Show a0002c0004t0002g0014 a0002c0004t0002g0015 a0002c0004t0002g0017 a0002c0004t0002g0019 a0002c0009t0002g0012 a0002c0009t0002g0018 a0005c0013t0002g0016 a0008c0010t0002g0004 a0008c0010t0002g0056 a0009c0008t0002g0020 a0009c0008t0002g0021	11	63	0.1746	-12	c.165 others(31): Show c.1657-6229_1657-6218delCTTTTTTTTTAT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	17/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41854949	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	30	0.0333	-12	c.165 others(33): Show c.1657-18990_1657-18979delTTTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	17/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41917988	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02970.hp2 HG03486.hp2 others(1): Show HG01891.hp1 HG02970.hp2 HG03486.hp2 NA18522.hp1	a0005 a0016 a0005 a0016	a0005c0006 a0016c0015 a0005c0006 a0016c0015	a0005c0006t0004 a0016c0015t0001 a0005c0006t0004 a0016c0015t0001	a0005c0006t0004g0001 a0005c0006t0004g0002 a0005c0006t0004g0003 others(1): Show a0005c0006t0004g0001 a0005c0006t0004g0002 a0005c0006t0004g0003 a0016c0015t0001g0005	4	19	0.2105	-12	c.727 others(27): Show c.727+457_727+468delATTTATTTATTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	7/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41961550	ACCCCCCC others(5): Show ACCCCCCCCCCCC	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0019 a0019	a0019c0017 a0019c0017	a0019c0017t0001 a0019c0017t0001	a0019c0017t0001g0022 a0019c0017t0001g0022	1	7	0.1429	-12	c.-49 others(27): Show c.-49+454_-49+465delGGGGGGGGGGGG	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	1/36			chr3	TogoVar
UMAD1_chr7_7635752_7884223	7673310	TAGCAGCA others(5): Show TAGCAGCAGCAGC	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00438.hp2 HG01891.hp2 HG02647.hp1 others(3): Show HG00438.hp2 HG01891.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0041 a0001c0001t0042 a0001c0001t0070 others(2): Show a0001c0001t0041 a0001c0001t0042 a0001c0001t0070 a0001c0001t0071 a0001c0004t0041	a0001c0001t0041g0235 a0001c0001t0042g0152 a0001c0001t0042g0162 others(3): Show a0001c0001t0041g0235 a0001c0001t0042g0152 a0001c0001t0042g0162 a0001c0001t0070g0074 a0001c0001t0071g0004 a0001c0004t0041g0210	6	45	0.1333	-12	c.-12 others(18): Show c.-12_-1delGCAGCAGCAGCA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/4	1	INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7746955	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03195.hp1 HG02109.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0079 a0001c0001t0044 a0001c0001t0079	a0001c0001t0044g0121 a0001c0001t0079g0150 a0001c0001t0044g0121 a0001c0001t0079g0150	2	128	0.0156	-12	c.83- others(29): Show c.83-54693_83-54682delGTGTGTGTGTGT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7760412	AAATAATA others(5): Show AAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0249 a0001c0001t0023g0249	1	97	0.0103	-12	c.83- others(29): Show c.83-41227_83-41216delAATAATAATAAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7778226	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00733.hp2 others(49): Show HG00438.hp1 HG00558.hp2 HG00733.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01361.hp2 HG01496.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02148.hp2 HG02622.hp1 HG03654.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04199.hp1 NA18952.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18975.hp1 NA18985.hp2 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19063.hp1 NA19076.hp2 NA19085.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0031 a0001c0001t0034 a0001c0001t0052 a0001c0001t0069 a0001c0001t0077 a0002c0003t0081	a0001c0001t0001g0031 a0001c0001t0001g0102 a0001c0001t0001g0103 others(49): Show a0001c0001t0001g0031 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0187 a0001c0001t0001g0242 a0001c0001t0002g0033 a0001c0001t0002g0039 a0001c0001t0002g0062 a0001c0001t0002g0067 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0116 a0001c0001t0002g0166 a0001c0001t0003g0172 a0001c0001t0003g0201 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0004g0142 a0001c0001t0004g0169 a0001c0001t0004g0173 a0001c0001t0005g0008 a0001c0001t0005g0011 a0001c0001t0005g0035 a0001c0001t0005g0036 a0001c0001t0005g0038 a0001c0001t0006g0096 a0001c0001t0007g0059 a0001c0001t0008g0069 a0001c0001t0009g0022 a0001c0001t0009g0098 a0001c0001t0009g0185 a0001c0001t0011g0023 a0001c0001t0012g0087 a0001c0001t0013g0084 a0001c0001t0013g0104 a0001c0001t0014g0009 a0001c0001t0015g0137 a0001c0001t0017g0133 a0001c0001t0018g0181 a0001c0001t0018g0198 a0001c0001t0019g0192 a0001c0001t0023g0203 a0001c0001t0024g0040 a0001c0001t0026g0056 a0001c0001t0031g0246 a0001c0001t0034g0179 a0001c0001t0052g0134 a0001c0001t0069g0051 a0001c0001t0077g0180 a0002c0003t0081g0072	52	180	0.2889	-12	c.83- others(29): Show c.83-23405_83-23394delTGTGTGTGTGTG	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7827122	GATATATA others(5): Show GATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0134 a0001c0001t0052g0134	1	202	0.0050	-12	c.156 others(31): Show c.156+25394_156+25405delATATATATATAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7847087	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02965.hp2 HG02723.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0041 a0001c0001t0040 a0001c0001t0041	a0001c0001t0040g0005 a0001c0001t0041g0235 a0001c0001t0040g0005 a0001c0001t0041g0235	2	224	0.0089	-12	c.157 others(31): Show c.157-30187_157-30176delAAAAAAAAAAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7847100	AAAAAATA others(5): Show AAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03453.hp2 HG03225.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0068 a0001c0001t0021 a0001c0001t0068	a0001c0001t0021g0027 a0001c0001t0068g0139 a0001c0001t0021g0027 a0001c0001t0068g0139	2	228	0.0088	-12	c.157 others(31): Show c.157-30179_157-30168delAAAATATATATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7864602	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00741.hp1 HG00741.hp2 others(43): Show HG00438.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01109.hp2 HG01167.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01261.hp1 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01975.hp1 HG01981.hp2 HG02004.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02559.hp1 HG02615.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp2 HG02818.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03453.hp2 HG03491.hp1 HG03516.hp2 HG03579.hp1 HG04115.hp2 NA18949.hp1 NA18952.hp2 NA18957.hp1 NA18968.hp2 NA18984.hp2 NA18985.hp2 NA19005.hp2 NA19011.hp1 NA19057.hp2 NA19058.hp1 NA19063.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(24): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0034 a0001c0001t0036 a0001c0001t0046 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053 a0001c0001t0056 a0001c0001t0067 a0001c0001t0070 a0001c0001t0074 a0002c0003t0081	a0001c0001t0001g0018 a0001c0001t0005g0008 a0001c0001t0005g0011 others(43): Show a0001c0001t0001g0018 a0001c0001t0005g0008 a0001c0001t0005g0011 a0001c0001t0005g0024 a0001c0001t0005g0038 a0001c0001t0005g0052 a0001c0001t0005g0077 a0001c0001t0009g0123 a0001c0001t0010g0092 a0001c0001t0010g0097 a0001c0001t0010g0100 a0001c0001t0010g0138 a0001c0001t0010g0168 a0001c0001t0011g0023 a0001c0001t0011g0044 a0001c0001t0011g0065 a0001c0001t0014g0009 a0001c0001t0014g0017 a0001c0001t0014g0110 a0001c0001t0015g0111 a0001c0001t0016g0125 a0001c0001t0016g0146 a0001c0001t0017g0202 a0001c0001t0017g0247 a0001c0001t0019g0078 a0001c0001t0019g0192 a0001c0001t0020g0028 a0001c0001t0020g0030 a0001c0001t0020g0151 a0001c0001t0021g0027 a0001c0001t0023g0245 a0001c0001t0023g0249 a0001c0001t0028g0178 a0001c0001t0029g0217 a0001c0001t0030g0243 a0001c0001t0034g0179 a0001c0001t0036g0231 a0001c0001t0046g0135 a0001c0001t0050g0136 a0001c0001t0051g0128 a0001c0001t0053g0021 a0001c0001t0056g0064 a0001c0001t0067g0227 a0001c0001t0070g0074 a0001c0001t0074g0240 a0002c0003t0081g0072	46	70	0.6571	-12	c.157 others(31): Show c.157-12641_157-12630delCACACACACACA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7883102	AGAAGAAG others(5): Show AGAAGAAGAAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0122 a0001c0001t0057g0122	1	248	0.0040	-12	c.55 others(23): Show c.5565_*5576delGAAGAAGAAGAG	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding		3880		chr7	TogoVar
UMODL1_chr21_42066317_42147996	42077002	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG00735.hp2 others(20): Show HG00558.hp1 HG00609.hp1 HG00735.hp2 HG01081.hp1 HG01346.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01943.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03927.hp2 NA18951.hp2 NA18974.hp2 NA18975.hp2 NA18979.hp2 NA18982.hp2 NA19000.hp2 NA19007.hp1 NA19011.hp2 NA19012.hp2 NA19066.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0006 a0009 a0013 a0014 a0017 a0018 a0026 a0037 a0068 a0111 a0114 a0115	a0001c0001 a0001c0008 a0002c0002 others(15): Show a0001c0001 a0001c0008 a0002c0002 a0003c0004 a0004c0031 a0004c0185 a0006c0003 a0009c0018 a0013c0027 a0014c0009 a0017c0011 a0018c0021 a0026c0025 a0037c0047 a0068c0176 a0111c0089 a0114c0070 a0115c0104	a0001c0001t0004 a0001c0008t0001 a0002c0002t0033 others(16): Show a0001c0001t0004 a0001c0008t0001 a0002c0002t0033 a0003c0004t0001 a0003c0004t0006 a0004c0031t0002 a0004c0185t0021 a0006c0003t0002 a0009c0018t0001 a0013c0027t0001 a0014c0009t0008 a0017c0011t0002 a0018c0021t0003 a0026c0025t0001 a0037c0047t0015 a0068c0176t0004 a0111c0089t0015 a0114c0070t0001 a0115c0104t0001	a0001c0001t0004g0115 a0001c0008t0001g0279 a0002c0002t0033g0067 others(19): Show a0001c0001t0004g0115 a0001c0008t0001g0279 a0002c0002t0033g0067 a0003c0004t0001g0313 a0003c0004t0001g0314 a0003c0004t0006g0315 a0004c0031t0002g0241 a0004c0185t0021g0093 a0006c0003t0002g0099 a0006c0003t0002g0237 a0009c0018t0001g0125 a0013c0027t0001g0324 a0014c0009t0008g0004 a0017c0011t0002g0245 a0017c0011t0002g0264 a0018c0021t0003g0352 a0026c0025t0001g0084 a0037c0047t0015g0322 a0068c0176t0004g0139 a0111c0089t0015g0120 a0114c0070t0001g0254 a0115c0104t0001g0236	23	54	0.4259	-12	c.319 others(27): Show c.319+809_319+820delTGTGTGTGTGTG	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMOD_chr16_20328051_20357715	20345498	CCCTCCCT others(5): Show CCCTCCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0057 a0001c0003t0002g0057	1	402	0.0025	-12	c.118 others(29): Show c.1182+616_1182+627delAAGGAAGGGAGG	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	5/10			chr16	TogoVar
UMOD_chr16_20328051_20357715	20345502	CCCTTCCT others(5): Show CCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp2 HG02572.hp1 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0018 a0001c0003t0001g0018	2	317	0.0063	-12	c.118 others(29): Show c.1182+612_1182+623delAAGGAAGGAAGG	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	5/10			chr16	TogoVar
UMOD_chr16_20328051_20357715	20346883	GAGAAAGA others(5): Show GAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0097 a0002c0006t0001g0097	1	105	0.0095	-12	c.974 others(27): Show c.974-561_974-550delTTCTTTCTTTCT	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	4/10			chr16	TogoVar
UMPS_chr3_124725452_124754273	124732967	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0068 a0001c0001t0006g0068	1	66	0.0152	-12	c.157 others(29): Show c.157-2107_157-2096delGTGTGTGTGTGT	UMPS	ENSG00000114491.14	transcript	ENST00000232607.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
UMPS_chr3_124725452_124754273	124746755	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp2 HG01978.hp1 HG03225.hp1 others(20): Show HG00544.hp2 HG01978.hp1 HG03225.hp1 HG03486.hp2 HG03669.hp2 HG03704.hp2 HG03942.hp2 HG04204.hp2 NA18955.hp1 NA18962.hp2 NA18964.hp2 NA18971.hp1 NA18972.hp2 NA18981.hp1 NA18982.hp1 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19072.hp2 NA19077.hp2 NA19082.hp1 NA19085.hp2 NA19090.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0003c0008 a0001c0001 a0003c0003 a0003c0008	a0001c0001t0018 a0001c0001t0074 a0001c0001t0080 others(6): Show a0001c0001t0018 a0001c0001t0074 a0001c0001t0080 a0001c0001t0083 a0003c0003t0008 a0003c0003t0044 a0003c0003t0045 a0003c0003t0097 a0003c0008t0008	a0001c0001t0018g0001 a0001c0001t0074g0122 a0001c0001t0080g0111 others(8): Show a0001c0001t0018g0001 a0001c0001t0074g0122 a0001c0001t0080g0111 a0001c0001t0083g0117 a0003c0003t0008g0006 a0003c0003t0044g0006 a0003c0003t0045g0006 a0003c0003t0045g0091 a0003c0003t0097g0006 a0003c0008t0008g0006 a0003c0008t0008g0092	23	30	0.7667	-12	c.27 others(23): Show c.2702_*2713delTGTGTGTGTGTG	UMPS	ENSG00000114491.14	transcript	ENST00000232607.7	protein_coding	6/6	2702	INFO_REALIGN_3_PRIME	chr3	TogoVar
UMPS_chr3_124725452_124754273	124749372	GATTTATT others(5): Show GATTTATTTATTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG02055.hp1 others(22): Show HG00639.hp1 HG00642.hp1 HG02055.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03225.hp1 HG03471.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 NA18522.hp1 NA18906.hp2 NA19240.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0001c0011 others(1): Show a0001c0001 a0001c0009 a0001c0011 a0002c0006	a0001c0001t0012 a0001c0001t0014 a0001c0001t0024 others(12): Show a0001c0001t0012 a0001c0001t0014 a0001c0001t0024 a0001c0001t0042 a0001c0001t0076 a0001c0001t0077 a0001c0001t0079 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0009t0078 a0001c0011t0081 a0002c0006t0093 a0002c0006t0094 a0002c0006t0095	a0001c0001t0012g0005 a0001c0001t0014g0015 a0001c0001t0014g0114 others(16): Show a0001c0001t0012g0005 a0001c0001t0014g0015 a0001c0001t0014g0114 a0001c0001t0014g0118 a0001c0001t0024g0028 a0001c0001t0024g0116 a0001c0001t0024g0119 a0001c0001t0042g0029 a0001c0001t0076g0029 a0001c0001t0077g0015 a0001c0001t0079g0015 a0001c0001t0083g0117 a0001c0001t0084g0028 a0001c0001t0085g0113 a0001c0009t0078g0112 a0001c0011t0081g0115 a0002c0006t0093g0109 a0002c0006t0094g0087 a0002c0006t0095g0108	25	159	0.1572	-12	c.52 others(23): Show c.5289_*5300delATTTATTTATTT	UMPS	ENSG00000114491.14	transcript	ENST00000232607.7	protein_coding		100		chr3	TogoVar
UMPS_chr3_124725452_124754273	124753769	AAAAGACC others(5): Show AAAAGACCTTTAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0008 a0001c0001t0007g0008	1	432	0.0023	-12	c.96 others(23): Show c.9686_*9697delAAAGACCTTTAG	UMPS	ENSG00000114491.14	transcript	ENST00000232607.7	protein_coding		4497		chr3	TogoVar
UNC119_chr17_28541708_28557624	28542122	CATATATA others(5): Show CATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	128	0.0078	-12	c.51 others(23): Show c.5163_*5174delATATATATATAT	UNC119	ENSG00000109103.12	transcript	ENST00000335765.9	protein_coding		4585		chr17	TogoVar
UNC119_chr17_28541708_28557624	28542866	CAATAAAT others(5): Show CAATAAATAAATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	362	0.0028	-12	c.44 others(23): Show c.4419_*4430delTATTTATTTATT	UNC119	ENSG00000109103.12	transcript	ENST00000335765.9	protein_coding		3841		chr17	TogoVar
UNC119_chr17_28541708_28557624	28553639	GACACACA others(5): Show GACACACACACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	12	0.0833	-12	c.-10 others(23): Show c.-1094_-1083delGTGTGTGTGTGT	UNC119	ENSG00000109103.12	transcript	ENST00000335765.9	protein_coding		1016		chr17	TogoVar
UNC13A_chr19_17596336_17693354	17622651	TCACCACC others(5): Show TCACCACCACCAC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA20300.hp1 HG02886.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0072 a0001c0002 a0001c0072	a0001c0002t0003 a0001c0072t0003 a0001c0002t0003 a0001c0072t0003	a0001c0002t0003g0096 a0001c0072t0003g0312 a0001c0002t0003g0096 a0001c0072t0003g0312	2	311	0.0064	-12	c.420 others(29): Show c.4204-793_4204-782delGTGGTGGTGGTG	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	36/43			chr19	TogoVar
UNC13A_chr19_17596336_17693354	17631073	CTCCTTCC others(5): Show CTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0016 a0002c0006t0016	a0002c0006t0016g0296 a0002c0006t0016g0296	1	241	0.0041	-12	c.342 others(29): Show c.3429-335_3429-324delAGGAAGGAAGGA	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	28/43			chr19	TogoVar
UNC13A_chr19_17596336_17693354	17633706	CATTCATT others(5): Show CATTCATTCACCT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0291 a0001c0002t0012g0291	1	318	0.0031	-12	c.321 others(29): Show c.3216-525_3216-514delAGGTGAATGAAT	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	26/43			chr19	TogoVar
UNC13A_chr19_17596336_17693354	17666879	CACGAGAG others(5): Show CACGAGAGAGAGA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02738.hp2 HG04115.hp2 others(1): Show HG00733.hp2 HG02738.hp2 HG04115.hp2 HG04199.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0065 a0001c0001 a0001c0004 a0004c0065	a0001c0001t0001 a0001c0001t0004 a0001c0004t0003 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0003 a0004c0065t0005	a0001c0001t0001g0174 a0001c0001t0004g0012 a0001c0004t0003g0030 others(1): Show a0001c0001t0001g0174 a0001c0001t0004g0012 a0001c0004t0003g0030 a0004c0065t0005g0134	4	260	0.0154	-12	c.469 others(27): Show c.469-187_469-176delTCTCTCTCTCGT	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	6/43			chr19	TogoVar
UNC13A_chr19_17596336_17693354	17677352	CTTTTCTT others(5): Show CTTTTCTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00544.hp2 others(124): Show HG00099.hp1 HG00099.hp2 HG00544.hp2 HG00597.hp1 HG00639.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01258.hp1 HG01261.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18947.hp2 NA18951.hp2 NA18962.hp1 NA18964.hp1 NA18969.hp1 NA18969.hp2 NA18991.hp2 NA18998.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19074.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(39): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0011 a0001c0014 a0001c0015 a0001c0016 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0001c0027 a0001c0028 a0001c0032 a0001c0045 a0001c0047 a0001c0050 a0001c0052 a0001c0053 a0001c0055 a0001c0056 a0001c0057 a0001c0063 a0001c0064 a0001c0071 a0002c0005 a0002c0006 a0002c0009 a0002c0012 a0002c0013 a0002c0017 a0002c0019 a0002c0026 a0002c0034 a0002c0038 a0003c0010 a0004c0048 a0006c0025 a0007c0068	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(84): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0015 a0001c0002t0017 a0001c0002t0018 a0001c0002t0020 a0001c0002t0027 a0001c0002t0028 a0001c0002t0029 a0001c0002t0032 a0001c0002t0038 a0001c0002t0042 a0001c0002t0044 a0001c0002t0045 a0001c0003t0001 a0001c0003t0003 a0001c0003t0017 a0001c0003t0040 a0001c0004t0001 a0001c0004t0003 a0001c0004t0007 a0001c0004t0010 a0001c0004t0011 a0001c0004t0018 a0001c0007t0001 a0001c0007t0005 a0001c0007t0008 a0001c0007t0015 a0001c0007t0025 a0001c0008t0002 a0001c0008t0026 a0001c0011t0010 a0001c0011t0020 a0001c0014t0001 a0001c0015t0006 a0001c0015t0022 a0001c0016t0002 a0001c0021t0014 a0001c0022t0008 a0001c0022t0024 a0001c0023t0001 a0001c0023t0047 a0001c0024t0001 a0001c0024t0019 a0001c0027t0002 a0001c0027t0014 a0001c0028t0002 a0001c0032t0008 a0001c0045t0035 a0001c0047t0001 a0001c0050t0033 a0001c0052t0002 a0001c0053t0023 a0001c0055t0001 a0001c0056t0002 a0001c0057t0024 a0001c0063t0002 a0001c0064t0001 a0001c0071t0002 a0002c0005t0001 a0002c0005t0009 a0002c0006t0001 a0002c0009t0005 a0002c0012t0001 a0002c0012t0006 a0002c0013t0002 a0002c0017t0001 a0002c0017t0013 a0002c0019t0008 a0002c0026t0002 a0002c0034t0002 a0002c0038t0023 a0003c0010t0001 a0003c0010t0013 a0004c0048t0005 a0006c0025t0001 a0007c0068t0002	a0001c0001t0001g0022 a0001c0001t0001g0080 a0001c0001t0001g0165 others(124): Show a0001c0001t0001g0022 a0001c0001t0001g0080 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0262 a0001c0001t0003g0225 a0001c0001t0007g0223 a0001c0002t0001g0178 a0001c0002t0001g0193 a0001c0002t0003g0068 a0001c0002t0003g0096 a0001c0002t0004g0224 a0001c0002t0007g0018 a0001c0002t0007g0172 a0001c0002t0008g0027 a0001c0002t0008g0046 a0001c0002t0009g0176 a0001c0002t0010g0033 a0001c0002t0010g0069 a0001c0002t0010g0097 a0001c0002t0011g0039 a0001c0002t0011g0064 a0001c0002t0011g0184 a0001c0002t0012g0017 a0001c0002t0012g0077 a0001c0002t0015g0054 a0001c0002t0017g0028 a0001c0002t0018g0103 a0001c0002t0020g0025 a0001c0002t0027g0295 a0001c0002t0028g0047 a0001c0002t0029g0167 a0001c0002t0032g0098 a0001c0002t0038g0037 a0001c0002t0042g0038 a0001c0002t0044g0093 a0001c0002t0045g0164 a0001c0003t0001g0015 a0001c0003t0001g0031 a0001c0003t0001g0040 a0001c0003t0001g0066 a0001c0003t0001g0079 a0001c0003t0001g0110 a0001c0003t0001g0152 a0001c0003t0001g0154 a0001c0003t0001g0222 a0001c0003t0001g0228 a0001c0003t0001g0305 a0001c0003t0003g0162 a0001c0003t0003g0264 a0001c0003t0017g0049 a0001c0003t0040g0024 a0001c0004t0001g0010 a0001c0004t0001g0020 a0001c0004t0003g0030 a0001c0004t0007g0151 a0001c0004t0010g0056 a0001c0004t0011g0055 a0001c0004t0018g0060 a0001c0007t0001g0052 a0001c0007t0001g0062 a0001c0007t0005g0173 a0001c0007t0008g0063 a0001c0007t0015g0041 a0001c0007t0015g0094 a0001c0007t0025g0320 a0001c0008t0002g0034 a0001c0008t0002g0075 a0001c0008t0002g0274 a0001c0008t0002g0276 a0001c0008t0002g0277 a0001c0008t0026g0083 a0001c0011t0010g0059 a0001c0011t0020g0035 a0001c0014t0001g0081 a0001c0015t0006g0090 a0001c0015t0022g0153 a0001c0016t0002g0065 a0001c0016t0002g0091 a0001c0021t0014g0318 a0001c0021t0014g0319 a0001c0022t0008g0185 a0001c0022t0024g0061 a0001c0023t0001g0045 a0001c0023t0047g0275 a0001c0024t0001g0057 a0001c0024t0019g0100 a0001c0027t0002g0044 a0001c0027t0014g0314 a0001c0028t0002g0082 a0001c0032t0008g0163 a0001c0045t0035g0183 a0001c0047t0001g0050 a0001c0050t0033g0085 a0001c0052t0002g0058 a0001c0053t0023g0053 a0001c0055t0001g0102 a0001c0056t0002g0155 a0001c0057t0024g0233 a0001c0063t0002g0104 a0001c0064t0001g0048 a0001c0071t0002g0311 a0002c0005t0001g0051 a0002c0005t0001g0067 a0002c0005t0001g0273 a0002c0005t0009g0180 a0002c0006t0001g0021 a0002c0006t0001g0283 a0002c0009t0005g0182 a0002c0012t0001g0169 a0002c0012t0001g0175 a0002c0012t0006g0181 a0002c0013t0002g0078 a0002c0017t0001g0086 a0002c0017t0013g0023 a0002c0019t0008g0036 a0002c0026t0002g0263 a0002c0034t0002g0099 a0002c0038t0023g0084 a0003c0010t0001g0070 a0003c0010t0013g0016 a0003c0010t0013g0019 a0004c0048t0005g0177 a0006c0025t0001g0087 a0007c0068t0002g0003	127	317	0.4006	-12	c.23- others(27): Show c.23-1323_23-1312delAAAAAAAGAAAA	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	1/43			chr19	TogoVar
UNC13A_chr19_17596336_17693354	17686098	CTTCCCCA others(5): Show CTTCCCCAGCCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02922.hp1 HG03471.hp1 others(2): Show HG00099.hp2 HG02922.hp1 HG03471.hp1 HG03669.hp2 NA19030.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0008 a0001c0050 a0002c0017 others(2): Show a0001c0008 a0001c0050 a0002c0017 a0002c0038 a0006c0025	a0001c0008t0026 a0001c0050t0033 a0002c0017t0001 others(2): Show a0001c0008t0026 a0001c0050t0033 a0002c0017t0001 a0002c0038t0023 a0006c0025t0001	a0001c0008t0026g0083 a0001c0050t0033g0085 a0002c0017t0001g0086 others(2): Show a0001c0008t0026g0083 a0001c0050t0033g0085 a0002c0017t0001g0086 a0002c0038t0023g0084 a0006c0025t0001g0087	5	318	0.0157	-12	c.22+ others(27): Show c.22+2068_22+2079delAAGGCTGGGGAA	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	1/43			chr19	TogoVar
UNC13B_chr9_35157009_35410335	35228703	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03834.hp1 HG04184.hp2 HG03688.hp2 HG03834.hp1 HG04184.hp2	a0002 a0012 a0002 a0012	a0002c0004 a0012c0014 a0002c0004 a0012c0014	a0002c0004t0001 a0012c0014t0004 a0002c0004t0001 a0012c0014t0004	a0002c0004t0001g0073 a0012c0014t0004g0018 a0012c0014t0004g0019 a0002c0004t0001g0073 a0012c0014t0004g0018 a0012c0014t0004g0019	3	19	0.1579	-12	c.52+ others(25): Show c.52+694_52+705delGTGTGTGTGTGT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	2/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35294087	ATCTACCA others(5): Show ATCTACCAACTTG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0021 a0021	a0021c0039 a0021c0039	a0021c0039t0001 a0021c0039t0001	a0021c0039t0001g0215 a0021c0039t0001g0215	1	222	0.0045	-12	c.527 others(29): Show c.527-1604_527-1593delCCAACTTGTCTA	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	7/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35313625	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01074.hp1 HG01891.hp1 others(14): Show HG00099.hp1 HG01074.hp1 HG01891.hp1 HG02486.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02896.hp1 HG02897.hp2 HG03130.hp2 HG03225.hp2 HG03669.hp1 HG03927.hp1 NA18982.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0033	a0002c0011 a0003c0002 a0005c0006 others(1): Show a0002c0011 a0003c0002 a0005c0006 a0033c0033	a0002c0011t0001 a0003c0002t0001 a0005c0006t0001 others(1): Show a0002c0011t0001 a0003c0002t0001 a0005c0006t0001 a0033c0033t0001	a0002c0011t0001g0175 a0002c0011t0001g0177 a0002c0011t0001g0178 others(14): Show a0002c0011t0001g0175 a0002c0011t0001g0177 a0002c0011t0001g0178 a0002c0011t0001g0179 a0003c0002t0001g0060 a0003c0002t0001g0076 a0003c0002t0001g0147 a0003c0002t0001g0149 a0005c0006t0001g0186 a0005c0006t0001g0194 a0005c0006t0001g0196 a0005c0006t0001g0202 a0005c0006t0001g0209 a0005c0006t0001g0210 a0005c0006t0001g0211 a0005c0006t0001g0217 a0033c0033t0001g0108	17	88	0.1932	-12	c.932 others(29): Show c.9324-234_9324-223delTAAATAAATAAA	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	10/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35319402	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0022 a0022	a0022c0041 a0022c0041	a0022c0041t0001 a0022c0041t0001	a0022c0041t0001g0200 a0022c0041t0001g0200	1	14	0.0714	-12	c.941 others(31): Show c.9414+5436_9414+5447delAAAAAAAAAAAA	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	11/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35328598	CCCTTCCT others(5): Show CCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02080.hp1 HG02165.hp1 others(8): Show HG01071.hp1 HG02080.hp1 HG02165.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp1 NA18942.hp1 NA18955.hp2 NA18979.hp1 NA18986.hp2 NA19088.hp2	a0001 a0011 a0019 a0001 a0011 a0019	a0001c0001 a0001c0023 a0011c0015 others(1): Show a0001c0001 a0001c0023 a0011c0015 a0019c0044	a0001c0001t0001 a0001c0023t0001 a0011c0015t0001 others(1): Show a0001c0001t0001 a0001c0023t0001 a0011c0015t0001 a0019c0044t0001	a0001c0001t0001g0004 a0001c0001t0001g0059 a0001c0001t0001g0064 others(8): Show a0001c0001t0001g0004 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0134 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0023t0001g0062 a0011c0015t0001g0146 a0019c0044t0001g0150	11	159	0.0692	-12	c.941 others(33): Show c.9414+14665_9414+14676delTCCTTCCTTCCT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	11/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35328654	TCCTTCCT others(5): Show TCCTTCCTTCCTC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0021 a0021	a0021c0039 a0021c0039	a0021c0039t0001 a0021c0039t0001	a0021c0039t0001g0215 a0021c0039t0001g0215	1	219	0.0046	-12	c.941 others(33): Show c.9414+14669_9414+14680delTCCTTCCTCCCT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	11/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35328658	TCCTTCCT others(5): Show TCCTTCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA20129.hp1 HG01175.hp1 NA20129.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0002 a0006c0008t0002g0008 a0006c0008t0002g0002 a0006c0008t0002g0008	2	222	0.0090	-12	c.941 others(33): Show c.9414+14677_9414+14688delCCCTCCCTTCCT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	11/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35409611	AAAATAAA others(5): Show AAAATAAATAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0204 a0002c0003t0001g0204	1	133	0.0075	-12	c.55 others(23): Show c.5579_*5590delAAATAAATAAAT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding		4277		chr9	TogoVar
UNC13C_chr15_53973441_54633605	53976310	CATTCATG others(5): Show CATTCATGAAACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0064 a0001c0002t0023g0064	1	156	0.0064	-12	c.-28 others(23): Show c.-2873_-2862delATTCATGAAACA	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding		2130		chr15	TogoVar
UNC13C_chr15_53973441_54633605	54042854	GAAAAGAA others(5): Show GAAAAGAAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG01123.hp2 others(48): Show HG00099.hp2 HG00639.hp2 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01943.hp2 HG01993.hp1 HG02055.hp1 HG02129.hp1 HG02132.hp1 HG02155.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03017.hp1 HG03492.hp1 HG03579.hp1 HG03654.hp2 HG03927.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18947.hp1 NA18947.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18964.hp1 NA18979.hp2 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp2 NA19064.hp1 NA19081.hp1 NA19081.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0009 a0013 a0015	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0012 a0001c0021 a0001c0029 a0001c0040 a0002c0015 a0002c0019 a0005c0011 a0005c0027 a0009c0028 a0013c0022 a0015c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0036 a0001c0001t0038 a0001c0001t0047 a0001c0002t0006 a0001c0002t0009 a0001c0002t0010 a0001c0002t0020 a0001c0002t0048 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 a0001c0003t0010 a0001c0003t0039 a0001c0003t0053 a0001c0005t0003 a0001c0006t0027 a0001c0006t0049 a0001c0007t0016 a0001c0012t0017 a0001c0021t0013 a0001c0029t0046 a0001c0040t0026 a0002c0015t0012 a0002c0019t0054 a0005c0011t0003 a0005c0027t0008 a0009c0028t0019 a0013c0022t0010 a0015c0031t0001	a0001c0001t0001g0035 a0001c0001t0002g0074 a0001c0001t0006g0124 others(48): Show a0001c0001t0001g0035 a0001c0001t0002g0074 a0001c0001t0006g0124 a0001c0001t0016g0113 a0001c0001t0016g0115 a0001c0001t0017g0136 a0001c0001t0019g0025 a0001c0001t0019g0042 a0001c0001t0036g0089 a0001c0001t0038g0100 a0001c0001t0047g0131 a0001c0002t0006g0112 a0001c0002t0009g0133 a0001c0002t0009g0134 a0001c0002t0010g0007 a0001c0002t0020g0020 a0001c0002t0020g0024 a0001c0002t0020g0041 a0001c0002t0048g0111 a0001c0003t0001g0019 a0001c0003t0003g0065 a0001c0003t0003g0103 a0001c0003t0004g0011 a0001c0003t0005g0125 a0001c0003t0009g0110 a0001c0003t0009g0114 a0001c0003t0009g0119 a0001c0003t0010g0009 a0001c0003t0010g0023 a0001c0003t0010g0026 a0001c0003t0039g0101 a0001c0003t0053g0058 a0001c0005t0003g0066 a0001c0006t0027g0050 a0001c0006t0027g0052 a0001c0006t0049g0108 a0001c0007t0016g0135 a0001c0012t0017g0109 a0001c0012t0017g0117 a0001c0021t0013g0038 a0001c0021t0013g0039 a0001c0029t0046g0143 a0001c0040t0026g0027 a0002c0015t0012g0054 a0002c0019t0054g0059 a0005c0011t0003g0072 a0005c0011t0003g0078 a0005c0027t0008g0073 a0009c0028t0019g0008 a0013c0022t0010g0061 a0015c0031t0001g0051	51	133	0.3835	-12	c.298 others(33): Show c.2983+26983_2983+26994delAAGAAAAAGAAA	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54075551	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01891.hp1 HG02572.hp1 others(8): Show HG01169.hp2 HG01891.hp1 HG02572.hp1 HG02615.hp2 HG02976.hp1 HG03209.hp2 HG03225.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0035	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0015 a0001c0001t0029 a0001c0001t0030 a0001c0001t0059 a0001c0002t0001 a0001c0002t0021 a0001c0004t0028 a0001c0035t0001	a0001c0001t0001g0004 a0001c0001t0002g0067 a0001c0001t0011g0150 others(8): Show a0001c0001t0001g0004 a0001c0001t0002g0067 a0001c0001t0011g0150 a0001c0001t0015g0070 a0001c0001t0029g0090 a0001c0001t0030g0142 a0001c0001t0059g0147 a0001c0002t0001g0005 a0001c0002t0021g0080 a0001c0004t0028g0148 a0001c0035t0001g0001	11	16	0.6875	-12	c.298 others(33): Show c.2983+59681_2983+59692delAAAAAAAAAAAA	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54117523	TTCTCTCT others(5): Show TTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03195.hp1 NA20300.hp2 HG02109.hp2 HG03195.hp1 NA20300.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0001c0004 a0006c0013 a0001c0002 a0001c0004 a0006c0013	a0001c0002t0008 a0001c0004t0018 a0006c0013t0044 a0001c0002t0008 a0001c0004t0018 a0006c0013t0044	a0001c0002t0008g0075 a0001c0004t0018g0096 a0006c0013t0044g0062 a0001c0002t0008g0075 a0001c0004t0018g0096 a0006c0013t0044g0062	3	23	0.1304	-12	c.298 others(33): Show c.2984-25462_2984-25451delTCTCTCTCTCTC	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54168240	GTTGCTGG others(5): Show GTTGCTGGCTACT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp1 HG01169.hp2 others(29): Show HG00639.hp1 HG00738.hp1 HG01169.hp2 HG01361.hp1 HG01515.hp1 HG01891.hp2 HG01978.hp1 HG02055.hp1 HG02132.hp1 HG02148.hp1 HG02155.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03225.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03927.hp1 HG04199.hp2 NA18522.hp2 NA18947.hp1 NA18952.hp1 NA20752.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0011	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012 a0001c0020 a0001c0021 a0002c0016 a0002c0017 a0004c0009 a0011c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0015 a0001c0001t0029 a0001c0001t0030 a0001c0001t0045 a0001c0001t0059 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0002t0013 a0001c0002t0048 a0001c0002t0060 a0001c0003t0003 a0001c0003t0004 a0001c0003t0042 a0001c0012t0017 a0001c0020t0001 a0001c0021t0013 a0002c0016t0004 a0002c0017t0007 a0004c0009t0005 a0004c0009t0026 a0011c0024t0028	a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0002g0067 others(29): Show a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0002g0067 a0001c0001t0006g0106 a0001c0001t0007g0016 a0001c0001t0012g0057 a0001c0001t0015g0070 a0001c0001t0029g0090 a0001c0001t0030g0142 a0001c0001t0045g0130 a0001c0001t0059g0147 a0001c0002t0001g0018 a0001c0002t0002g0063 a0001c0002t0005g0126 a0001c0002t0006g0112 a0001c0002t0009g0133 a0001c0002t0013g0153 a0001c0002t0048g0111 a0001c0002t0060g0146 a0001c0003t0003g0065 a0001c0003t0004g0011 a0001c0003t0042g0107 a0001c0012t0017g0109 a0001c0020t0001g0043 a0001c0021t0013g0038 a0001c0021t0013g0039 a0002c0016t0004g0053 a0002c0016t0004g0055 a0002c0017t0007g0060 a0004c0009t0005g0132 a0004c0009t0026g0021 a0011c0024t0028g0017	32	156	0.2051	-12	c.307 others(33): Show c.3071+24559_3071+24570delGCTGGCTACTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54172703	GATATATA others(5): Show GATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0157 a0001c0002t0051g0157	1	9	0.1111	-12	c.307 others(33): Show c.3071+29066_3071+29077delATATATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54310740	ATATATCT others(5): Show ATATATCTATATC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp2 HG02258.hp1 others(6): Show HG01243.hp1 HG02109.hp2 HG02258.hp1 HG02630.hp2 HG02886.hp2 HG02976.hp2 HG03041.hp2 HG03225.hp1 HG03579.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0020 a0001c0034 a0006c0013	a0001c0001t0002 a0001c0001t0014 a0001c0001t0036 others(6): Show a0001c0001t0002 a0001c0001t0014 a0001c0001t0036 a0001c0001t0059 a0001c0002t0002 a0001c0003t0021 a0001c0020t0001 a0001c0034t0058 a0006c0013t0044	a0001c0001t0002g0141 a0001c0001t0014g0083 a0001c0001t0036g0089 others(6): Show a0001c0001t0002g0141 a0001c0001t0014g0083 a0001c0001t0036g0089 a0001c0001t0059g0147 a0001c0002t0002g0063 a0001c0003t0021g0155 a0001c0020t0001g0043 a0001c0034t0058g0149 a0006c0013t0044g0062	9	81	0.1111	-12	c.426 others(33): Show c.4268+10397_4268+10408delCTATATCTATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	13/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54310770	CTATATCT others(5): Show CTATATCTATATA	C C	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02486.hp1 HG02559.hp1 others(5): Show HG01169.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02809.hp2 HG02896.hp2 HG03195.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0011 a0001c0001t0015 a0001c0001t0018 others(5): Show a0001c0001t0011 a0001c0001t0015 a0001c0001t0018 a0001c0001t0025 a0001c0001t0056 a0001c0002t0001 a0001c0003t0001 a0001c0004t0018	a0001c0001t0011g0077 a0001c0001t0015g0070 a0001c0001t0018g0033 others(5): Show a0001c0001t0011g0077 a0001c0001t0015g0070 a0001c0001t0018g0033 a0001c0001t0025g0003 a0001c0001t0056g0015 a0001c0002t0001g0018 a0001c0003t0001g0019 a0001c0004t0018g0096	8	156	0.0513	-12	c.426 others(33): Show c.4268+10401_4268+10412delATCTATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	13/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54438083	GGTGAGGT others(5): Show GGTGAGGTTACTC	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0035 a0007c0010t0035	a0007c0010t0035g0140 a0007c0010t0035g0140	1	156	0.0064	-12	c.493 others(33): Show c.4933+23017_4933+23028delGTGAGGTTACTC	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32			chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455195	CTCTCTCT others(5): Show CTCTCTCTCTCTA	C C	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0004 a0002c0018t0004	a0002c0018t0004g0048 a0002c0018t0004g0048	1	156	0.0064	-12	c.493 others(33): Show c.4934-39411_4934-39400delCTCTCTCTCTAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455197	CTCTCTCT others(5): Show CTCTCTCTCTATA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0055 a0001c0004t0055	a0001c0004t0055g0095 a0001c0004t0055g0095	1	151	0.0066	-12	c.493 others(33): Show c.4934-39409_4934-39398delCTCTCTCTATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar

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