Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
UMAD1_chr7_7635752_7884223	7778275	T T	TGTGTGAG others(1): Show TGTGTGAGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03491.hp2 HG03927.hp2 others(2): Show HG00741.hp2 HG03491.hp2 HG03927.hp2 HG04199.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0018 a0001c0001t0023 others(2): Show a0001c0001t0003 a0001c0001t0018 a0001c0001t0023 a0001c0001t0025 a0001c0001t0038	a0001c0001t0003g0126 a0001c0001t0018g0090 a0001c0001t0023g0249 others(2): Show a0001c0001t0003g0126 a0001c0001t0018g0090 a0001c0001t0023g0249 a0001c0001t0025g0095 a0001c0001t0038g0089	5	130	0.0385	8	c.83- others(25): Show c.83-23394_83-23393insTGTGAGAG	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7827137	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01981.hp2 HG02004.hp1 others(4): Show HG01243.hp2 HG01981.hp2 HG02004.hp1 HG02895.hp2 HG03225.hp1 HG03453.hp2 HG03669.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 others(4): Show a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0058 a0001c0001t0068 a0002c0003t0081	a0001c0001t0013g0127 a0001c0001t0019g0192 a0001c0001t0020g0028 others(4): Show a0001c0001t0013g0127 a0001c0001t0019g0192 a0001c0001t0020g0028 a0001c0001t0021g0027 a0001c0001t0058g0165 a0001c0001t0068g0139 a0002c0003t0081g0072	7	157	0.0446	8	c.156 others(27): Show c.156+25395_156+25396insGTGTGTGT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7827177	G G	GTGTGTGT others(1): Show GTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp2 HG01167.hp2 others(3): Show HG00741.hp1 HG01109.hp2 HG01167.hp2 HG01192.hp2 HG01361.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0016 a0001c0001t0020 others(3): Show a0001c0001t0014 a0001c0001t0016 a0001c0001t0020 a0001c0001t0028 a0001c0001t0034 a0001c0001t0046	a0001c0001t0014g0110 a0001c0001t0016g0125 a0001c0001t0020g0030 others(3): Show a0001c0001t0014g0110 a0001c0001t0016g0125 a0001c0001t0020g0030 a0001c0001t0028g0178 a0001c0001t0034g0179 a0001c0001t0046g0135	6	229	0.0262	8	c.156 others(27): Show c.156+25435_156+25436insGTGTGTAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMODL1_chr21_42066317_42147996	42069229	A A	AACACACA others(1): Show AACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG01433.hp1 HG01496.hp2 others(16): Show HG00597.hp1 HG01433.hp1 HG01496.hp2 HG02280.hp1 HG02622.hp1 HG02818.hp2 HG03516.hp2 NA18522.hp1 NA18940.hp1 NA18948.hp1 NA18953.hp2 NA18979.hp1 NA18980.hp2 NA19007.hp2 NA19043.hp2 NA19068.hp2 NA19079.hp2 NA19083.hp1 NA19091.hp2	a0002 a0007 a0011 others(8): Show a0002 a0007 a0011 a0019 a0020 a0021 a0026 a0028 a0044 a0068 a0082	a0002c0002 a0002c0005 a0002c0015 others(10): Show a0002c0002 a0002c0005 a0002c0015 a0007c0006 a0011c0010 a0019c0014 a0020c0030 a0021c0034 a0026c0025 a0028c0050 a0044c0054 a0068c0176 a0082c0112	a0002c0002t0001 a0002c0002t0010 a0002c0005t0001 others(12): Show a0002c0002t0001 a0002c0002t0010 a0002c0005t0001 a0002c0005t0003 a0002c0015t0001 a0007c0006t0029 a0011c0010t0001 a0019c0014t0013 a0020c0030t0001 a0021c0034t0001 a0026c0025t0003 a0028c0050t0001 a0044c0054t0001 a0068c0176t0004 a0082c0112t0001	a0002c0002t0001g0377 a0002c0002t0010g0003 a0002c0005t0001g0047 others(16): Show a0002c0002t0001g0377 a0002c0002t0010g0003 a0002c0005t0001g0047 a0002c0005t0001g0048 a0002c0005t0001g0050 a0002c0005t0001g0051 a0002c0005t0003g0049 a0002c0015t0001g0052 a0007c0006t0029g0065 a0011c0010t0001g0075 a0019c0014t0013g0152 a0019c0014t0013g0153 a0020c0030t0001g0015 a0021c0034t0001g0378 a0026c0025t0003g0034 a0028c0050t0001g0045 a0044c0054t0001g0376 a0068c0176t0004g0139 a0082c0112t0001g0358	19	109	0.1743	8	c.-20 others(19): Show c.-2088_-2087insACACACAC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding		2087		chr21	TogoVar
UMODL1_chr21_42066317_42147996	42072043	C C	CCAAACAA others(1): Show CCAAACAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01109.hp2 others(22): Show HG01070.hp2 HG01071.hp2 HG01109.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02965.hp1 HG03139.hp2 HG03453.hp2 HG03540.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA19240.hp1 NA19240.hp2	a0002 a0005 a0010 others(11): Show a0002 a0005 a0010 a0013 a0021 a0027 a0030 a0041 a0044 a0047 a0077 a0079 a0083 a0086	a0002c0002 a0002c0148 a0002c0149 others(15): Show a0002c0002 a0002c0148 a0002c0149 a0005c0019 a0010c0057 a0010c0063 a0013c0029 a0021c0034 a0021c0150 a0027c0040 a0030c0024 a0041c0147 a0044c0054 a0047c0037 a0077c0151 a0079c0141 a0083c0146 a0086c0158	a0002c0002t0001 a0002c0148t0001 a0002c0149t0031 others(15): Show a0002c0002t0001 a0002c0148t0001 a0002c0149t0031 a0005c0019t0027 a0010c0057t0019 a0010c0063t0001 a0013c0029t0001 a0021c0034t0001 a0021c0150t0001 a0027c0040t0004 a0030c0024t0012 a0041c0147t0001 a0044c0054t0001 a0047c0037t0001 a0077c0151t0001 a0079c0141t0035 a0083c0146t0005 a0086c0158t0001	a0002c0002t0001g0377 a0002c0148t0001g0366 a0002c0149t0031g0365 others(21): Show a0002c0002t0001g0377 a0002c0148t0001g0366 a0002c0149t0031g0365 a0005c0019t0027g0362 a0010c0057t0019g0369 a0010c0063t0001g0361 a0013c0029t0001g0380 a0013c0029t0001g0381 a0013c0029t0001g0382 a0021c0034t0001g0378 a0021c0150t0001g0368 a0027c0040t0004g0374 a0027c0040t0004g0375 a0030c0024t0012g0011 a0030c0024t0012g0360 a0041c0147t0001g0367 a0044c0054t0001g0376 a0044c0054t0001g0379 a0047c0037t0001g0372 a0047c0037t0001g0373 a0077c0151t0001g0364 a0079c0141t0035g0371 a0083c0146t0005g0363 a0086c0158t0001g0370	25	125	0.2000	8	c.76+ others(21): Show c.76+668_76+675dupCAAACAAA	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42072053	A A	AAACAAAC others(1): Show AAACAAACT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02647.hp2 HG02896.hp2 others(3): Show HG02622.hp2 HG02647.hp2 HG02896.hp2 HG02897.hp2 HG03471.hp1 HG03486.hp1	a0025 a0032 a0034 others(1): Show a0025 a0032 a0034 a0095	a0025c0028 a0032c0033 a0034c0111 others(1): Show a0025c0028 a0032c0033 a0034c0111 a0095c0143	a0025c0028t0001 a0032c0033t0001 a0034c0111t0012 others(1): Show a0025c0028t0001 a0032c0033t0001 a0034c0111t0012 a0095c0143t0001	a0025c0028t0001g0008 a0025c0028t0001g0274 a0032c0033t0001g0276 others(2): Show a0025c0028t0001g0008 a0025c0028t0001g0274 a0032c0033t0001g0276 a0034c0111t0012g0275 a0095c0143t0001g0277	6	398	0.0151	8	c.76+ others(21): Show c.76+668_76+669insTAACAAAC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42095089	G G	GTTTTTTT others(1): Show GTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01257.hp2 HG02040.hp1 others(3): Show HG01081.hp2 HG01257.hp2 HG02040.hp1 NA18969.hp2 NA18989.hp2 NA18995.hp1	a0005 a0009 a0012 others(2): Show a0005 a0009 a0012 a0024 a0031	a0005c0026 a0009c0018 a0012c0145 others(2): Show a0005c0026 a0009c0018 a0012c0145 a0024c0128 a0031c0060	a0005c0026t0001 a0009c0018t0001 a0012c0145t0001 others(2): Show a0005c0026t0001 a0009c0018t0001 a0012c0145t0001 a0024c0128t0001 a0031c0060t0002	a0005c0026t0001g0010 a0009c0018t0001g0201 a0012c0145t0001g0212 others(2): Show a0005c0026t0001g0010 a0009c0018t0001g0201 a0012c0145t0001g0212 a0024c0128t0001g0269 a0031c0060t0002g0216	6	68	0.0882	8	c.932 others(25): Show c.932-3821_932-3814dupTTTTTTTT	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42130221	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01261.hp2 NA18973.hp1 others(4): Show HG00438.hp1 HG01261.hp2 NA18973.hp1 NA18992.hp2 NA19010.hp1 NA19087.hp1 NA19087.hp2	a0004 a0008 a0015 others(3): Show a0004 a0008 a0015 a0036 a0053 a0055	a0004c0118 a0008c0012 a0015c0016 others(3): Show a0004c0118 a0008c0012 a0015c0016 a0036c0049 a0053c0065 a0055c0080	a0004c0118t0002 a0008c0012t0004 a0015c0016t0002 others(3): Show a0004c0118t0002 a0008c0012t0004 a0015c0016t0002 a0036c0049t0002 a0053c0065t0001 a0055c0080t0002	a0004c0118t0002g0121 a0008c0012t0004g0155 a0015c0016t0002g0127 others(3): Show a0004c0118t0002g0121 a0008c0012t0004g0155 a0015c0016t0002g0127 a0036c0049t0002g0021 a0053c0065t0001g0007 a0055c0080t0002g0234	7	192	0.0365	8	c.377 others(25): Show c.3775+442_3775+449dupTGTGTGTG	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42130245	T T	TGTGTGCG others(1): Show TGTGTGCGC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02895.hp2 HG02897.hp1 others(1): Show HG01884.hp1 HG02895.hp2 HG02897.hp1 NA20300.hp1	a0010 a0032 a0121 a0010 a0032 a0121	a0010c0053 a0032c0033 a0121c0137 a0010c0053 a0032c0033 a0121c0137	a0010c0053t0020 a0032c0033t0001 a0121c0137t0005 a0010c0053t0020 a0032c0033t0001 a0121c0137t0005	a0010c0053t0020g0005 a0032c0033t0001g0066 a0121c0137t0005g0162 a0010c0053t0020g0005 a0032c0033t0001g0066 a0121c0137t0005g0162	4	338	0.0118	8	c.377 others(25): Show c.3775+449_3775+450insTGTGCGCG	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMOD_chr16_20328051_20357715	20343129	C C	CAATAAAT others(1): Show CAATAAATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00673.hp2 others(24): Show HG00423.hp1 HG00544.hp1 HG00673.hp2 HG01255.hp1 HG01891.hp1 HG01975.hp2 HG02004.hp2 HG02257.hp2 HG02273.hp2 HG02293.hp1 HG02602.hp2 HG02818.hp2 HG03195.hp2 HG03453.hp2 HG03834.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18942.hp2 NA18943.hp2 NA18949.hp2 NA18979.hp1 NA18981.hp1 NA18999.hp1 NA19003.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012	a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 a0001c0012t0001	a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0002t0001g0239 others(11): Show a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0003t0002g0002 a0001c0003t0002g0020 a0001c0003t0002g0054 a0001c0003t0002g0056 a0001c0003t0002g0057 a0001c0003t0002g0058 a0001c0003t0002g0059 a0001c0003t0002g0060 a0001c0003t0002g0061 a0001c0012t0001g0241	27	370	0.0730	8	c.133 others(25): Show c.1331+887_1331+894dupTATTTATT	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	6/10			chr16	TogoVar
UMOD_chr16_20328051_20357715	20345480	T T	TTCCCTCC others(1): Show TTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02055.hp2 HG02809.hp1 others(1): Show HG01943.hp1 HG02055.hp2 HG02809.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0084 a0001c0001t0001g0107 a0001c0001t0001g0141 others(1): Show a0001c0001t0001g0084 a0001c0001t0001g0107 a0001c0001t0001g0141 a0001c0004t0001g0256	4	226	0.0177	8	c.118 others(25): Show c.1182+638_1182+645dupGGGAGGGA	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	5/10			chr16	TogoVar
UMOD_chr16_20328051_20357715	20345502	C C	CCCTCCCT others(1): Show CCCTCCCTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02723.hp2 HG02976.hp1 others(7): Show HG01891.hp2 HG02723.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp1 NA18906.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0003t0002 a0001c0005t0001 a0001c0001t0001 a0001c0003t0002 a0001c0005t0001	a0001c0001t0001g0190 a0001c0003t0002g0052 a0001c0005t0001g0013 others(4): Show a0001c0001t0001g0190 a0001c0003t0002g0052 a0001c0005t0001g0013 a0001c0005t0001g0191 a0001c0005t0001g0192 a0001c0005t0001g0193 a0001c0005t0001g0194	10	325	0.0308	8	c.118 others(25): Show c.1182+623_1182+624insAAGGGAGG	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	5/10			chr16	TogoVar
UMOD_chr16_20328051_20357715	20349671	G G	GCCACATT others(1): Show GCCACATTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01071.hp1 HG01099.hp2 others(24): Show HG00099.hp2 HG01071.hp1 HG01099.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01515.hp1 HG01517.hp2 HG01928.hp2 HG01981.hp2 HG02055.hp2 HG02148.hp1 HG02300.hp2 HG02451.hp2 HG02572.hp2 HG02630.hp1 HG02738.hp2 HG03486.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA20805.hp2 NA21309.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0004 a0004c0009 a0005c0008 others(1): Show a0001c0004 a0004c0009 a0005c0008 a0006c0010	a0001c0004t0001 a0001c0004t0006 a0004c0009t0001 others(2): Show a0001c0004t0001 a0001c0004t0006 a0004c0009t0001 a0005c0008t0001 a0006c0010t0001	a0001c0004t0001g0004 a0001c0004t0001g0015 a0001c0004t0001g0032 others(14): Show a0001c0004t0001g0004 a0001c0004t0001g0015 a0001c0004t0001g0032 a0001c0004t0001g0145 a0001c0004t0001g0147 a0001c0004t0001g0148 a0001c0004t0001g0149 a0001c0004t0001g0150 a0001c0004t0001g0151 a0001c0004t0001g0249 a0001c0004t0001g0250 a0001c0004t0001g0256 a0001c0004t0006g0146 a0004c0009t0001g0019 a0005c0008t0001g0201 a0005c0008t0001g0202 a0006c0010t0001g0062	27	402	0.0672	8	c.89- others(21): Show c.89-467_89-460dupGAATGTGG	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	2/10			chr16	TogoVar
UMPS_chr3_124725452_124754273	124732967	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00642.hp1 HG00735.hp2 others(20): Show HG00558.hp2 HG00642.hp1 HG00735.hp2 HG01074.hp2 HG01168.hp1 HG01433.hp2 HG01993.hp1 HG02165.hp1 HG02257.hp1 HG02615.hp1 HG02717.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG03486.hp2 HG03491.hp2 NA18522.hp1 NA18906.hp2 NA18943.hp2 NA18954.hp2 NA19240.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 others(10): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 a0001c0001t0016 a0001c0001t0023 a0001c0001t0058 a0001c0001t0077 a0001c0001t0079 a0001c0001t0080 a0001c0001t0085 a0001c0009t0078 a0002c0002t0002 a0002c0002t0088	a0001c0001t0003g0055 a0001c0001t0005g0023 a0001c0001t0014g0015 others(13): Show a0001c0001t0003g0055 a0001c0001t0005g0023 a0001c0001t0014g0015 a0001c0001t0014g0114 a0001c0001t0016g0023 a0001c0001t0023g0035 a0001c0001t0058g0023 a0001c0001t0077g0015 a0001c0001t0079g0015 a0001c0001t0080g0111 a0001c0001t0085g0113 a0001c0009t0078g0112 a0002c0002t0002g0027 a0002c0002t0002g0046 a0002c0002t0002g0096 a0002c0002t0088g0105	23	88	0.2614	8	c.157 others(25): Show c.157-2103_157-2096dupGTGTGTGT	UMPS	ENSG00000114491.14	transcript	ENST00000232607.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
UMPS_chr3_124725452_124754273	124746755	T T	TTGTGTGT others(1): Show TTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp2 HG00609.hp2 HG00642.hp2 others(34): Show HG00408.hp2 HG00609.hp2 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG01192.hp2 HG01978.hp2 HG02040.hp1 HG02055.hp1 HG02735.hp1 HG02976.hp2 HG03239.hp1 HG03654.hp2 HG03704.hp1 HG04184.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18950.hp2 NA18952.hp1 NA18955.hp2 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18969.hp1 NA18975.hp2 NA18977.hp1 NA18985.hp1 NA18988.hp1 NA18999.hp2 NA19002.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19043.hp2 NA19081.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0004 a0002c0006 others(1): Show a0001c0001 a0001c0004 a0002c0006 a0005c0014	a0001c0001t0004 a0001c0001t0012 a0001c0001t0029 others(7): Show a0001c0001t0004 a0001c0001t0012 a0001c0001t0029 a0001c0001t0040 a0001c0001t0058 a0001c0001t0059 a0001c0004t0004 a0001c0004t0012 a0002c0006t0095 a0005c0014t0012	a0001c0001t0004g0002 a0001c0001t0004g0007 a0001c0001t0004g0012 others(20): Show a0001c0001t0004g0002 a0001c0001t0004g0007 a0001c0001t0004g0012 a0001c0001t0004g0016 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0025 a0001c0001t0004g0030 a0001c0001t0004g0057 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0012g0005 a0001c0001t0029g0002 a0001c0001t0029g0007 a0001c0001t0029g0017 a0001c0001t0040g0004 a0001c0001t0058g0023 a0001c0001t0059g0017 a0001c0004t0004g0007 a0001c0004t0012g0005 a0001c0004t0012g0026 a0002c0006t0095g0108 a0005c0014t0012g0081	37	44	0.8409	8	c.27 others(19): Show c.2706_*2713dupTGTGTGTG	UMPS	ENSG00000114491.14	transcript	ENST00000232607.7	protein_coding	6/6	2714	INFO_REALIGN_3_PRIME	chr3	TogoVar
UNC119B_chr12_120705458_120728640	120705597	A A	AAAACAAA others(1): Show AAAACAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG02630.hp1 HG01168.hp2 HG01169.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0021 a0001c0001t0012 a0001c0001t0021	a0001c0001t0012g0013 a0001c0001t0021g0010 a0001c0001t0012g0013 a0001c0001t0021g0010	3	239	0.0126	8	c.-48 others(19): Show c.-4878_-4877insAAACAAAC	UNC119B	ENSG00000175970.11	transcript	ENST00000344651.5	protein_coding		4860		chr12	TogoVar
UNC119_chr17_28541708_28557624	28542122	C C	CATATATA others(1): Show CATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 NA19072.hp1 NA19072.hp2 HG03453.hp1 NA19072.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0001 a0001c0001t0001g0018	3	130	0.0231	8	c.51 others(19): Show c.5167_*5174dupATATATAT	UNC119	ENSG00000109103.12	transcript	ENST00000335765.9	protein_coding		4585		chr17	TogoVar
UNC119_chr17_28541708_28557624	28542238	T T	TACACACA others(1): Show TACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG02055.hp1 HG02451.hp2 others(4): Show HG01433.hp1 HG02055.hp1 HG02451.hp2 HG02970.hp2 HG03195.hp2 HG03453.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018	7	300	0.0233	8	c.50 others(19): Show c.5051_*5058dupGTGTGTGT	UNC119	ENSG00000109103.12	transcript	ENST00000335765.9	protein_coding		4469		chr17	TogoVar
UNC119_chr17_28541708_28557624	28553639	G G	GACACACA others(1): Show GACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG01069.hp2 others(52): Show HG00597.hp2 HG00609.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01243.hp2 HG01433.hp1 HG01928.hp2 HG01943.hp2 HG02055.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02257.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18945.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18997.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19043.hp2 NA19064.hp2 NA19072.hp2 NA19084.hp2 NA20300.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0033	55	66	0.8333	8	c.-10 others(19): Show c.-1090_-1083dupGTGTGTGT	UNC119	ENSG00000109103.12	transcript	ENST00000335765.9	protein_coding		1016		chr17	TogoVar
UNC13A_chr19_17596336_17693354	17626150	T T	TATCCATC others(1): Show TATCCATCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02809.hp1 NA19011.hp1 HG02647.hp1 HG02809.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0056 a0001c0057 a0001c0001 a0001c0056 a0001c0057	a0001c0001t0001 a0001c0056t0002 a0001c0057t0024 a0001c0001t0001 a0001c0056t0002 a0001c0057t0024	a0001c0001t0001g0249 a0001c0056t0002g0155 a0001c0057t0024g0233 a0001c0001t0001g0249 a0001c0056t0002g0155 a0001c0057t0024g0233	3	205	0.0146	8	c.407 others(25): Show c.4073+475_4073+482dupGGATGGAT	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	34/43			chr19	TogoVar
UNC13A_chr19_17596336_17693354	17642032	A A	ACATCCAT others(1): Show ACATCCATC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00639.hp2 others(54): Show HG00099.hp2 HG00140.hp2 HG00639.hp2 HG00738.hp2 HG01070.hp1 HG01081.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp2 HG01975.hp2 HG01978.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03540.hp2 HG03831.hp2 HG03834.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18964.hp1 NA18971.hp1 NA18983.hp2 NA19043.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0002 a0001c0003 a0001c0004 others(22): Show a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0015 a0001c0020 a0001c0022 a0001c0023 a0001c0024 a0001c0027 a0001c0032 a0001c0052 a0001c0053 a0001c0054 a0001c0066 a0002c0005 a0002c0006 a0002c0009 a0002c0017 a0002c0019 a0002c0033 a0002c0036 a0002c0038 a0008c0035	a0001c0002t0001 a0001c0002t0003 a0001c0002t0012 others(41): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0012 a0001c0002t0020 a0001c0002t0027 a0001c0002t0028 a0001c0002t0029 a0001c0002t0038 a0001c0002t0045 a0001c0003t0001 a0001c0003t0003 a0001c0003t0016 a0001c0004t0001 a0001c0004t0018 a0001c0004t0021 a0001c0007t0003 a0001c0008t0002 a0001c0015t0006 a0001c0020t0001 a0001c0020t0005 a0001c0022t0008 a0001c0022t0024 a0001c0023t0047 a0001c0024t0001 a0001c0024t0019 a0001c0027t0014 a0001c0032t0008 a0001c0052t0002 a0001c0053t0023 a0001c0054t0009 a0001c0066t0019 a0002c0005t0001 a0002c0005t0003 a0002c0006t0001 a0002c0006t0006 a0002c0009t0005 a0002c0009t0043 a0002c0017t0001 a0002c0019t0003 a0002c0019t0008 a0002c0033t0030 a0002c0036t0002 a0002c0038t0023 a0008c0035t0001	a0001c0002t0001g0178 a0001c0002t0001g0229 a0001c0002t0003g0096 others(54): Show a0001c0002t0001g0178 a0001c0002t0001g0229 a0001c0002t0003g0096 a0001c0002t0003g0131 a0001c0002t0012g0077 a0001c0002t0012g0291 a0001c0002t0012g0299 a0001c0002t0020g0025 a0001c0002t0027g0295 a0001c0002t0028g0047 a0001c0002t0029g0167 a0001c0002t0038g0037 a0001c0002t0045g0164 a0001c0003t0001g0040 a0001c0003t0003g0162 a0001c0003t0016g0149 a0001c0004t0001g0150 a0001c0004t0018g0060 a0001c0004t0021g0073 a0001c0007t0003g0072 a0001c0008t0002g0034 a0001c0008t0002g0071 a0001c0008t0002g0095 a0001c0008t0002g0274 a0001c0015t0006g0303 a0001c0020t0001g0005 a0001c0020t0005g0076 a0001c0022t0008g0185 a0001c0022t0024g0061 a0001c0023t0047g0275 a0001c0024t0001g0057 a0001c0024t0019g0100 a0001c0027t0014g0314 a0001c0032t0008g0163 a0001c0052t0002g0058 a0001c0053t0023g0053 a0001c0054t0009g0290 a0001c0066t0019g0043 a0002c0005t0001g0140 a0002c0005t0003g0168 a0002c0006t0001g0021 a0002c0006t0001g0281 a0002c0006t0001g0283 a0002c0006t0001g0302 a0002c0006t0006g0278 a0002c0009t0005g0006 a0002c0009t0005g0007 a0002c0009t0005g0008 a0002c0009t0005g0182 a0002c0009t0043g0226 a0002c0017t0001g0086 a0002c0019t0003g0074 a0002c0019t0008g0036 a0002c0033t0030g0141 a0002c0036t0002g0004 a0002c0038t0023g0084 a0008c0035t0001g0002	57	243	0.2346	8	c.247 others(25): Show c.2473-484_2473-477dupGATGGATG	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	20/43			chr19	TogoVar
UNC13A_chr19_17596336_17693354	17646269	G G	GTGTTTGT others(1): Show GTGTTTGTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01496.hp1 HG02717.hp2 others(8): Show HG01175.hp1 HG01496.hp1 HG02717.hp2 HG02895.hp1 HG03471.hp2 HG03540.hp1 HG03704.hp1 HG04199.hp1 HG04204.hp2 NA19043.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0024 a0001c0046 a0001c0055 a0001c0067 a0002c0040	a0001c0001t0001 a0001c0002t0003 a0001c0002t0009 others(8): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0009 a0001c0002t0045 a0001c0003t0001 a0001c0024t0001 a0001c0024t0019 a0001c0046t0001 a0001c0055t0001 a0001c0067t0004 a0002c0040t0014	a0001c0001t0001g0174 a0001c0002t0003g0096 a0001c0002t0009g0176 others(8): Show a0001c0001t0001g0174 a0001c0002t0003g0096 a0001c0002t0009g0176 a0001c0002t0045g0164 a0001c0003t0001g0014 a0001c0024t0001g0057 a0001c0024t0019g0100 a0001c0046t0001g0280 a0001c0055t0001g0102 a0001c0067t0004g0265 a0002c0040t0014g0316	11	217	0.0507	8	c.204 others(25): Show c.2045-166_2045-159dupAACAAACA	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	17/43			chr19	TogoVar
UNC13A_chr19_17596336_17693354	17666181	C C	CTCTCTCT others(1): Show CTCTCTCTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02723.hp2 HG02895.hp2 others(5): Show HG02280.hp1 HG02723.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0011 others(1): Show a0001c0002 a0001c0008 a0001c0011 a0001c0021	a0001c0002t0008 a0001c0002t0010 a0001c0002t0020 others(3): Show a0001c0002t0008 a0001c0002t0010 a0001c0002t0020 a0001c0008t0026 a0001c0011t0020 a0001c0021t0014	a0001c0002t0008g0027 a0001c0002t0010g0033 a0001c0002t0010g0097 others(5): Show a0001c0002t0008g0027 a0001c0002t0010g0033 a0001c0002t0010g0097 a0001c0002t0020g0025 a0001c0008t0026g0083 a0001c0011t0020g0035 a0001c0021t0014g0318 a0001c0021t0014g0319	8	318	0.0252	8	c.523 others(23): Show c.523+468_523+469insAAGAGAGA	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	7/43			chr19	TogoVar
UNC13A_chr19_17596336_17693354	17680889	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp1 HG01978.hp2 others(4): Show HG00639.hp2 HG00738.hp1 HG01978.hp2 HG03669.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0006 a0002c0036 a0003c0010	a0001c0001t0004 a0001c0002t0007 a0001c0003t0001 others(4): Show a0001c0001t0004 a0001c0002t0007 a0001c0003t0001 a0001c0004t0001 a0002c0006t0001 a0002c0036t0002 a0003c0010t0013	a0001c0001t0004g0012 a0001c0002t0007g0018 a0001c0003t0001g0014 others(4): Show a0001c0001t0004g0012 a0001c0002t0007g0018 a0001c0003t0001g0014 a0001c0004t0001g0010 a0002c0006t0001g0021 a0002c0036t0002g0004 a0003c0010t0013g0019	7	141	0.0496	8	c.23- others(23): Show c.23-4856_23-4849dupAAAAAAAA	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	1/43			chr19	TogoVar
UNC13B_chr9_35157009_35410335	35199432	T T	TGGTTGAA others(1): Show TGGTTGAAC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03688.hp2 HG03834.hp1 HG02738.hp2 HG03688.hp2 HG03834.hp1	a0012 a0024 a0012 a0024	a0012c0014 a0024c0021 a0012c0014 a0024c0021	a0012c0014t0004 a0024c0021t0001 a0012c0014t0004 a0024c0021t0001	a0012c0014t0004g0018 a0012c0014t0004g0019 a0024c0021t0001g0020 a0012c0014t0004g0018 a0012c0014t0004g0019 a0024c0021t0001g0020	3	222	0.0135	8	c.23- others(25): Show c.23-28582_23-28575dupGGTTGAAC	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35207478	T T	TTTTATTT others(1): Show TTTTATTTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(122): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00423.hp2 HG00544.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01891.hp2 HG02004.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18951.hp2 NA18957.hp2 NA18963.hp1 NA18965.hp1 NA18968.hp2 NA18971.hp2 NA18979.hp1 NA18982.hp1 NA18986.hp2 NA18990.hp1 NA18993.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19010.hp1 NA19043.hp2 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(20): Show a0001 a0002 a0003 a0004 a0006 a0008 a0009 a0011 a0013 a0014 a0016 a0017 a0018 a0019 a0020 a0025 a0026 a0027 a0028 a0029 a0031 a0032 a0033	a0001c0001 a0001c0007 a0001c0013 others(30): Show a0001c0001 a0001c0007 a0001c0013 a0002c0003 a0002c0004 a0002c0010 a0002c0031 a0003c0002 a0004c0005 a0004c0035 a0004c0036 a0004c0038 a0004c0042 a0006c0008 a0008c0012 a0009c0020 a0009c0022 a0011c0015 a0013c0017 a0014c0018 a0016c0037 a0017c0029 a0018c0030 a0019c0044 a0020c0034 a0025c0046 a0026c0047 a0027c0049 a0028c0048 a0029c0045 a0031c0043 a0032c0027 a0033c0033	a0001c0001t0001 a0001c0001t0003 a0001c0007t0001 others(33): Show a0001c0001t0001 a0001c0001t0003 a0001c0007t0001 a0001c0013t0001 a0002c0003t0001 a0002c0004t0001 a0002c0010t0001 a0002c0031t0001 a0003c0002t0001 a0004c0005t0001 a0004c0005t0008 a0004c0035t0001 a0004c0036t0006 a0004c0038t0001 a0004c0042t0001 a0006c0008t0002 a0008c0012t0001 a0009c0020t0001 a0009c0022t0001 a0011c0015t0001 a0013c0017t0001 a0014c0018t0001 a0014c0018t0007 a0016c0037t0001 a0017c0029t0001 a0018c0030t0001 a0019c0044t0001 a0020c0034t0001 a0025c0046t0001 a0026c0047t0001 a0027c0049t0001 a0028c0048t0001 a0029c0045t0001 a0031c0043t0005 a0032c0027t0001 a0033c0033t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0059 others(122): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0151 a0001c0001t0001g0162 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0003g0013 a0001c0001t0003g0157 a0001c0001t0003g0161 a0001c0001t0003g0165 a0001c0007t0001g0015 a0001c0007t0001g0136 a0001c0007t0001g0137 a0001c0007t0001g0139 a0001c0007t0001g0142 a0001c0007t0001g0181 a0001c0007t0001g0182 a0001c0007t0001g0183 a0001c0013t0001g0001 a0001c0013t0001g0058 a0001c0013t0001g0113 a0002c0003t0001g0026 a0002c0003t0001g0039 a0002c0003t0001g0040 a0002c0003t0001g0041 a0002c0003t0001g0042 a0002c0003t0001g0046 a0002c0003t0001g0049 a0002c0003t0001g0052 a0002c0003t0001g0053 a0002c0003t0001g0192 a0002c0003t0001g0193 a0002c0003t0001g0204 a0002c0003t0001g0205 a0002c0003t0001g0206 a0002c0003t0001g0208 a0002c0004t0001g0016 a0002c0004t0001g0027 a0002c0004t0001g0028 a0002c0004t0001g0029 a0002c0004t0001g0034 a0002c0004t0001g0073 a0002c0004t0001g0212 a0002c0004t0001g0213 a0002c0004t0001g0214 a0002c0010t0001g0017 a0002c0010t0001g0032 a0002c0010t0001g0035 a0002c0010t0001g0036 a0002c0010t0001g0099 a0002c0031t0001g0038 a0003c0002t0001g0091 a0003c0002t0001g0094 a0004c0005t0001g0069 a0004c0005t0001g0144 a0004c0005t0001g0145 a0004c0005t0001g0159 a0004c0005t0001g0160 a0004c0005t0001g0167 a0004c0005t0001g0170 a0004c0005t0001g0173 a0004c0005t0001g0174 a0004c0005t0001g0176 a0004c0005t0008g0172 a0004c0035t0001g0068 a0004c0036t0006g0006 a0004c0038t0001g0171 a0004c0042t0001g0005 a0006c0008t0002g0002 a0006c0008t0002g0003 a0006c0008t0002g0008 a0006c0008t0002g0009 a0006c0008t0002g0011 a0006c0008t0002g0025 a0006c0008t0002g0057 a0008c0012t0001g0070 a0008c0012t0001g0104 a0008c0012t0001g0107 a0008c0012t0001g0109 a0009c0020t0001g0098 a0009c0022t0001g0102 a0011c0015t0001g0146 a0013c0017t0001g0022 a0013c0017t0001g0037 a0014c0018t0001g0123 a0014c0018t0007g0124 a0016c0037t0001g0131 a0017c0029t0001g0050 a0018c0030t0001g0072 a0019c0044t0001g0150 a0020c0034t0001g0067 a0025c0046t0001g0195 a0026c0047t0001g0164 a0027c0049t0001g0223 a0028c0048t0001g0224 a0029c0045t0001g0184 a0031c0043t0005g0153 a0032c0027t0001g0222 a0033c0033t0001g0108	125	136	0.9191	8	c.23- others(25): Show c.23-20508_23-20501dupTTTATTTA	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35313625	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01261.hp2 HG02280.hp1 others(10): Show HG01071.hp2 HG01261.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp2 HG02896.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03490.hp1 HG03540.hp2 HG03579.hp2 NA18957.hp2	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0022 a0025	a0001c0001 a0001c0007 a0004c0005 others(5): Show a0001c0001 a0001c0007 a0004c0005 a0004c0035 a0004c0038 a0005c0006 a0022c0041 a0025c0046	a0001c0001t0001 a0001c0007t0001 a0004c0005t0001 others(5): Show a0001c0001t0001 a0001c0007t0001 a0004c0005t0001 a0004c0035t0001 a0004c0038t0001 a0005c0006t0001 a0022c0041t0001 a0025c0046t0001	a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0116 others(10): Show a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0116 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0007t0001g0183 a0004c0005t0001g0173 a0004c0035t0001g0068 a0004c0038t0001g0171 a0005c0006t0001g0156 a0005c0006t0001g0158 a0022c0041t0001g0200 a0025c0046t0001g0195	13	84	0.1548	8	c.932 others(25): Show c.9324-230_9324-223dupTAAATAAA	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	10/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35328598	C C	CCCTTCCT others(1): Show CCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02071.hp1 HG02723.hp2 others(1): Show HG00280.hp1 HG02071.hp1 HG02723.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0071 a0001c0001t0001g0162 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0071 a0001c0001t0001g0162 a0001c0001t0001g0163	4	152	0.0263	8	c.941 others(29): Show c.9414+14669_9414+14676dupTCCTTCCT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	11/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35409056	A A	AGTGTGTG others(1): Show AGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 NA18955.hp1 HG02602.hp2 NA18955.hp1	a0003 a0009 a0003 a0009	a0003c0002 a0009c0022 a0003c0002 a0009c0022	a0003c0002t0001 a0009c0022t0001 a0003c0002t0001 a0009c0022t0001	a0003c0002t0001g0125 a0009c0022t0001g0102 a0003c0002t0001g0125 a0009c0022t0001g0102	2	15	0.1333	8	c.50 others(19): Show c.5023_*5024insGTGTGTGT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding		3722		chr9	TogoVar
UNC13B_chr9_35157009_35410335	35409611	A A	AAAATAAA others(1): Show AAAATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01168.hp1 HG02004.hp2 others(6): Show HG00140.hp2 HG01168.hp1 HG02004.hp2 HG02622.hp1 HG06807.hp2 NA18943.hp2 NA18951.hp1 NA18999.hp1 NA21309.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0033	a0001c0001 a0003c0002 a0003c0016 others(2): Show a0001c0001 a0003c0002 a0003c0016 a0004c0042 a0033c0033	a0001c0001t0001 a0001c0001t0003 a0003c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0003c0002t0001 a0003c0016t0001 a0004c0042t0001 a0033c0033t0001	a0001c0001t0001g0128 a0001c0001t0003g0157 a0003c0002t0001g0023 others(6): Show a0001c0001t0001g0128 a0001c0001t0003g0157 a0003c0002t0001g0023 a0003c0002t0001g0119 a0003c0002t0001g0148 a0003c0016t0001g0054 a0003c0016t0001g0085 a0004c0042t0001g0005 a0033c0033t0001g0108	9	141	0.0638	8	c.55 others(19): Show c.5578_*5579insAAATAAAT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding		4277		chr9	TogoVar
UNC13C_chr15_53973441_54633605	54077376	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp1 HG03098.hp2 others(4): Show HG01109.hp2 HG02258.hp1 HG03098.hp2 HG03225.hp2 HG03471.hp1 NA18954.hp2 NA20752.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0005c0011 a0007c0010	a0001c0001t0014 a0001c0002t0002 a0001c0002t0008 others(4): Show a0001c0001t0014 a0001c0002t0002 a0001c0002t0008 a0001c0002t0022 a0001c0003t0042 a0005c0011t0003 a0007c0010t0002	a0001c0001t0014g0083 a0001c0002t0002g0082 a0001c0002t0008g0081 others(4): Show a0001c0001t0014g0083 a0001c0002t0002g0082 a0001c0002t0008g0081 a0001c0002t0022g0092 a0001c0003t0042g0107 a0005c0011t0003g0078 a0007c0010t0002g0139	7	62	0.1129	8	c.298 others(29): Show c.2983+61503_2983+61510dupTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54086737	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01192.hp2 HG02148.hp1 others(15): Show HG01169.hp1 HG01192.hp2 HG02148.hp1 HG02602.hp2 HG03041.hp1 HG03195.hp2 HG03225.hp2 HG03540.hp1 HG04228.hp1 NA18522.hp1 NA18953.hp1 NA18954.hp2 NA18964.hp2 NA18979.hp1 NA18989.hp2 NA19064.hp2 NA19090.hp1 NA20752.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0002c0015 a0002c0019 a0004c0026 a0005c0011 a0007c0010	a0001c0001t0006 a0001c0001t0012 a0001c0001t0017 others(15): Show a0001c0001t0006 a0001c0001t0012 a0001c0001t0017 a0001c0001t0025 a0001c0001t0037 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0001c0003t0002 a0001c0003t0005 a0001c0003t0042 a0001c0005t0003 a0001c0007t0001 a0002c0015t0012 a0002c0019t0031 a0004c0026t0001 a0005c0011t0003 a0007c0010t0002	a0001c0001t0006g0124 a0001c0001t0012g0057 a0001c0001t0017g0136 others(15): Show a0001c0001t0006g0124 a0001c0001t0012g0057 a0001c0001t0017g0136 a0001c0001t0025g0003 a0001c0001t0037g0158 a0001c0002t0022g0086 a0001c0002t0023g0098 a0001c0002t0024g0138 a0001c0003t0002g0088 a0001c0003t0005g0120 a0001c0003t0042g0107 a0001c0005t0003g0066 a0001c0007t0001g0029 a0002c0015t0012g0054 a0002c0019t0031g0071 a0004c0026t0001g0022 a0005c0011t0003g0078 a0007c0010t0002g0139	18	73	0.2466	8	c.298 others(29): Show c.2984-56270_2984-56263dupTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54117523	T T	TTCTCTCT others(1): Show TTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02630.hp2 HG03540.hp2 others(3): Show HG02559.hp2 HG02630.hp2 HG03540.hp2 HG03927.hp2 NA18612.hp1 NA18906.hp2	a0001 a0006 a0014 a0001 a0006 a0014	a0001c0002 a0001c0003 a0001c0005 others(3): Show a0001c0002 a0001c0003 a0001c0005 a0001c0020 a0006c0013 a0014c0030	a0001c0002t0013 a0001c0003t0005 a0001c0005t0003 others(3): Show a0001c0002t0013 a0001c0003t0005 a0001c0005t0003 a0001c0020t0001 a0006c0013t0014 a0014c0030t0014	a0001c0002t0013g0153 a0001c0003t0005g0125 a0001c0005t0003g0068 others(3): Show a0001c0002t0013g0153 a0001c0003t0005g0125 a0001c0005t0003g0068 a0001c0020t0001g0043 a0006c0013t0014g0151 a0014c0030t0014g0084	6	26	0.2308	8	c.298 others(29): Show c.2984-25458_2984-25451dupTCTCTCTC	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54138953	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00738.hp2 others(11): Show HG00099.hp2 HG00639.hp2 HG00738.hp2 HG01192.hp2 HG01243.hp2 HG01361.hp2 HG02129.hp2 HG02155.hp2 HG02809.hp1 NA18612.hp1 NA18953.hp2 NA18979.hp2 NA18991.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(6): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0012 a0002c0015 a0002c0019 a0002c0036	a0001c0001t0016 a0001c0001t0040 a0001c0003t0009 others(11): Show a0001c0001t0016 a0001c0001t0040 a0001c0003t0009 a0001c0003t0010 a0001c0003t0042 a0001c0003t0050 a0001c0005t0003 a0001c0006t0027 a0001c0006t0049 a0001c0007t0016 a0001c0012t0017 a0002c0015t0012 a0002c0019t0054 a0002c0036t0004	a0001c0001t0016g0113 a0001c0001t0040g0121 a0001c0003t0009g0119 others(11): Show a0001c0001t0016g0113 a0001c0001t0040g0121 a0001c0003t0009g0119 a0001c0003t0010g0026 a0001c0003t0042g0107 a0001c0003t0050g0012 a0001c0005t0003g0068 a0001c0006t0027g0050 a0001c0006t0049g0108 a0001c0007t0016g0135 a0001c0012t0017g0117 a0002c0015t0012g0054 a0002c0019t0054g0059 a0002c0036t0004g0010	14	19	0.7368	8	c.298 others(27): Show c.2984-4047_2984-4040dupTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54172703	G G	GATATATA others(1): Show GATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03492.hp1 HG03209.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0009 a0001c0001t0001 a0001c0002t0009	a0001c0001t0001g0004 a0001c0002t0009g0134 a0001c0001t0001g0004 a0001c0002t0009g0134	2	10	0.2000	8	c.307 others(29): Show c.3071+29070_3071+29077dupATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54203474	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01123.hp2 HG01169.hp1 others(8): Show HG00099.hp1 HG01123.hp2 HG01169.hp1 HG01943.hp2 HG01978.hp2 HG01993.hp2 HG02630.hp1 HG03139.hp2 HG03471.hp2 HG04199.hp1 NA18964.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0002c0018 a0009c0028	a0001c0001t0007 a0001c0001t0032 a0001c0001t0057 others(7): Show a0001c0001t0007 a0001c0001t0032 a0001c0001t0057 a0001c0002t0020 a0001c0002t0024 a0001c0002t0034 a0001c0003t0009 a0001c0007t0001 a0002c0018t0004 a0009c0028t0019	a0001c0001t0007g0006 a0001c0001t0007g0152 a0001c0001t0032g0099 others(8): Show a0001c0001t0007g0006 a0001c0001t0007g0152 a0001c0001t0032g0099 a0001c0001t0057g0145 a0001c0002t0020g0020 a0001c0002t0024g0116 a0001c0002t0034g0079 a0001c0003t0009g0114 a0001c0007t0001g0029 a0002c0018t0004g0046 a0009c0028t0019g0008	11	81	0.1358	8	c.307 others(29): Show c.3072-31552_3072-31545dupGTGTGTGT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54274667	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01358.hp1 HG01361.hp1 others(6): Show HG00423.hp1 HG01358.hp1 HG01361.hp1 HG02602.hp2 HG02622.hp1 NA18906.hp1 NA18939.hp2 NA18947.hp2 NA19081.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0002 a0001c0003 a0001c0029 others(3): Show a0001c0002 a0001c0003 a0001c0029 a0001c0041 a0004c0026 a0005c0027	a0001c0002t0001 a0001c0002t0009 a0001c0002t0020 others(6): Show a0001c0002t0001 a0001c0002t0009 a0001c0002t0020 a0001c0003t0005 a0001c0003t0039 a0001c0029t0046 a0001c0041t0025 a0004c0026t0001 a0005c0027t0008	a0001c0002t0001g0005 a0001c0002t0009g0133 a0001c0002t0020g0041 others(6): Show a0001c0002t0001g0005 a0001c0002t0009g0133 a0001c0002t0020g0041 a0001c0003t0005g0128 a0001c0003t0039g0101 a0001c0029t0046g0143 a0001c0041t0025g0156 a0004c0026t0001g0022 a0005c0027t0008g0073	9	62	0.1452	8	c.381 others(27): Show c.3818+9186_3818+9193dupTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	10/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54332305	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01358.hp1 HG01978.hp1 others(5): Show HG00099.hp2 HG01358.hp1 HG01978.hp1 HG02148.hp2 HG02300.hp2 HG03492.hp2 NA20300.hp2 NA20752.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0003 a0001c0012 others(3): Show a0001c0002 a0001c0003 a0001c0012 a0002c0015 a0002c0016 a0004c0009	a0001c0002t0008 a0001c0003t0039 a0001c0003t0042 others(5): Show a0001c0002t0008 a0001c0003t0039 a0001c0003t0042 a0001c0003t0053 a0001c0012t0017 a0002c0015t0012 a0002c0016t0004 a0004c0009t0005	a0001c0002t0008g0075 a0001c0003t0039g0101 a0001c0003t0042g0107 others(5): Show a0001c0002t0008g0075 a0001c0003t0039g0101 a0001c0003t0042g0107 a0001c0003t0053g0058 a0001c0012t0017g0117 a0002c0015t0012g0047 a0002c0016t0004g0055 a0004c0009t0005g0132	8	77	0.1039	8	c.449 others(25): Show c.4494+220_4494+227dupGTGTGTGT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	15/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54408199	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01123.hp2 HG02129.hp2 others(8): Show HG00735.hp1 HG01123.hp2 HG02129.hp2 HG02922.hp2 HG03041.hp2 HG04199.hp2 NA18947.hp1 NA18952.hp1 NA18979.hp1 NA19064.hp2 NA19081.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0001c0003 a0001c0007 others(3): Show a0001c0002 a0001c0003 a0001c0007 a0002c0016 a0002c0019 a0005c0011	a0001c0002t0023 a0001c0002t0060 a0001c0003t0003 others(8): Show a0001c0002t0023 a0001c0002t0060 a0001c0003t0003 a0001c0003t0004 a0001c0003t0009 a0001c0003t0021 a0001c0003t0050 a0001c0007t0012 a0002c0016t0004 a0002c0019t0031 a0005c0011t0003	a0001c0002t0023g0098 a0001c0002t0060g0146 a0001c0003t0003g0065 others(8): Show a0001c0002t0023g0098 a0001c0002t0060g0146 a0001c0003t0003g0065 a0001c0003t0004g0011 a0001c0003t0009g0114 a0001c0003t0021g0155 a0001c0003t0050g0012 a0001c0007t0012g0154 a0002c0016t0004g0053 a0002c0019t0031g0071 a0005c0011t0003g0072	11	46	0.2391	8	c.484 others(27): Show c.4848-6760_4848-6753dupAAAAAAAA	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	18/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455205	C C	CTCTCCCT others(1): Show CTCTCCCTA	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18991.hp2 HG02129.hp1 NA18991.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0027 a0001c0006t0027	a0001c0006t0027g0050 a0001c0006t0027g0052 a0001c0006t0027g0050 a0001c0006t0027g0052	2	55	0.0364	8	c.493 others(29): Show c.4934-39402_4934-39401insCTCCCTAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455208	T T	TCTCTCTC others(1): Show TCTCTCTCC	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA18906.hp1 NA19030.hp1 HG02970.hp2 NA18906.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0031 a0001c0002t0001g0034 a0001c0002t0001g0005 a0001c0002t0001g0031 a0001c0002t0001g0034	3	140	0.0214	8	c.493 others(29): Show c.4934-39400_4934-39399insCTCTCTCC	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32			chr15	TogoVar
UNC13C_chr15_53973441_54633605	54486250	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02155.hp2 HG02809.hp1 others(13): Show HG02109.hp1 HG02155.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03471.hp1 HG04199.hp2 NA18906.hp1 NA18939.hp1 NA18954.hp2 NA19081.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0034 a0001c0040 a0005c0011 a0007c0010	a0001c0001t0040 a0001c0002t0001 a0001c0002t0002 others(10): Show a0001c0001t0040 a0001c0002t0001 a0001c0002t0002 a0001c0002t0022 a0001c0002t0060 a0001c0003t0001 a0001c0003t0004 a0001c0003t0010 a0001c0003t0021 a0001c0034t0058 a0001c0040t0026 a0005c0011t0003 a0007c0010t0035	a0001c0001t0040g0121 a0001c0002t0001g0005 a0001c0002t0001g0031 others(13): Show a0001c0001t0040g0121 a0001c0002t0001g0005 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0002g0082 a0001c0002t0022g0086 a0001c0002t0060g0146 a0001c0003t0001g0019 a0001c0003t0004g0011 a0001c0003t0010g0026 a0001c0003t0021g0155 a0001c0034t0058g0149 a0001c0040t0026g0027 a0005c0011t0003g0072 a0005c0011t0003g0078 a0007c0010t0035g0140	16	36	0.4444	8	c.493 others(27): Show c.4934-8326_4934-8319dupCACACACA	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54516799	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00639.hp1 others(23): Show HG00099.hp1 HG00423.hp2 HG00639.hp1 HG00639.hp2 HG01192.hp1 HG01255.hp1 HG01358.hp1 HG01361.hp1 HG02055.hp2 HG02148.hp1 HG02300.hp2 HG02809.hp1 HG03017.hp2 HG03041.hp1 HG03471.hp2 HG03540.hp2 HG03927.hp1 HG04199.hp1 HG04228.hp1 NA18612.hp2 NA18952.hp2 NA18964.hp1 NA18989.hp1 NA18991.hp1 NA19081.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 others(19): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0032 a0001c0001t0040 a0001c0001t0057 a0001c0002t0005 a0001c0002t0009 a0001c0002t0010 a0001c0002t0013 a0001c0002t0020 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0001c0002t0034 a0001c0003t0003 a0001c0003t0039 a0001c0003t0053	a0001c0001t0006g0106 a0001c0001t0006g0137 a0001c0001t0007g0016 others(23): Show a0001c0001t0006g0106 a0001c0001t0006g0137 a0001c0001t0007g0016 a0001c0001t0011g0069 a0001c0001t0012g0057 a0001c0001t0016g0113 a0001c0001t0016g0115 a0001c0001t0017g0136 a0001c0001t0019g0042 a0001c0001t0032g0099 a0001c0001t0040g0121 a0001c0001t0057g0145 a0001c0002t0005g0126 a0001c0002t0009g0133 a0001c0002t0010g0007 a0001c0002t0013g0153 a0001c0002t0020g0020 a0001c0002t0020g0024 a0001c0002t0020g0041 a0001c0002t0022g0086 a0001c0002t0023g0064 a0001c0002t0024g0138 a0001c0002t0034g0079 a0001c0003t0003g0103 a0001c0003t0039g0101 a0001c0003t0053g0058	26	56	0.4643	8	c.545 others(27): Show c.5457+4975_5457+4982dupAAAAAAAA	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	24/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC45A_chr15_90930285_90959093	90954458	C C	CAAAAAAA others(1): Show CAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01167.hp2 HG01928.hp2 others(13): Show HG01081.hp1 HG01167.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG02004.hp1 HG02027.hp2 HG02135.hp2 HG03688.hp1 NA18982.hp2 NA18997.hp2 NA19000.hp1 NA19001.hp2 NA19079.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0001c0001t0003 a0005c0008t0001 a0001c0001t0001 a0001c0001t0003 a0005c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0013 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0003g0067 a0001c0001t0003g0073 a0005c0008t0001g0002 a0005c0008t0001g0017 a0005c0008t0001g0032 a0005c0008t0001g0158	16	90	0.1778	8	c.74 others(17): Show c.742_*743insAAAAAAAA	UNC45A	ENSG00000140553.18	transcript	ENST00000418476.2	protein_coding		366		chr15	TogoVar
UNC45B_chr17_35142817_35194343	35143163	C C	CAATAAAT others(1): Show CAATAAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01361.hp2 HG02970.hp1 others(7): Show HG01192.hp2 HG01361.hp2 HG02970.hp1 HG03130.hp1 NA18940.hp1 NA18947.hp1 NA18950.hp2 NA18971.hp1 NA19012.hp2 NA19043.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0014c0023 a0001c0001 a0014c0023	a0001c0001t0001 a0001c0001t0004 a0014c0023t0004 a0001c0001t0001 a0001c0001t0004 a0014c0023t0004	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0054 others(6): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0211 a0001c0001t0004g0040 a0001c0001t0004g0209 a0014c0023t0004g0208	10	89	0.1124	8	c.-47 others(19): Show c.-4748_-4747insAATAAATA	UNC45B	ENSG00000141161.12	transcript	ENST00000394570.7	protein_coding		4653		chr17	TogoVar
UNC45B_chr17_35142817_35194343	35166086	T T	TAAAAAAA others(1): Show TAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02056.hp1 HG02155.hp1 others(5): Show HG00735.hp2 HG02056.hp1 HG02155.hp1 HG02293.hp1 NA18967.hp2 NA18972.hp2 NA19009.hp1 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0003 a0001c0002t0002 a0002c0003t0006 a0001c0001t0003 a0001c0002t0002 a0002c0003t0006	a0001c0001t0003g0157 a0001c0001t0003g0161 a0001c0001t0003g0162 others(5): Show a0001c0001t0003g0157 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0172 a0001c0002t0002g0069 a0002c0003t0006g0103 a0002c0003t0006g0104 a0002c0003t0006g0105	8	16	0.5000	8	c.115 others(27): Show c.1151+1938_1151+1945dupAAAAAAAA	UNC45B	ENSG00000141161.12	transcript	ENST00000394570.7	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
UNC45B_chr17_35142817_35194343	35175060	G G	GAAGAAAG others(1): Show GAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01243.hp1 HG02071.hp2 others(7): Show HG00438.hp1 HG01243.hp1 HG02071.hp2 HG02155.hp1 HG02280.hp2 HG02970.hp2 HG04115.hp2 NA19004.hp1 NA19058.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0002t0002	a0001c0001t0004g0040 a0001c0001t0004g0210 a0001c0001t0005g0216 others(7): Show a0001c0001t0004g0040 a0001c0001t0004g0210 a0001c0001t0005g0216 a0001c0001t0005g0222 a0001c0001t0014g0323 a0001c0002t0002g0063 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0071 a0001c0002t0002g0075	10	253	0.0395	8	c.195 others(25): Show c.1958+712_1958+719dupAAGAAAGA	UNC45B	ENSG00000141161.12	transcript	ENST00000394570.7	protein_coding	14/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
UNC45B_chr17_35142817_35194343	35175070	A A	AGAAAGAA others(1): Show AGAAAGAAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00597.hp1 others(32): Show HG00408.hp1 HG00423.hp2 HG00597.hp1 HG00621.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01358.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02698.hp2 HG03491.hp1 HG03492.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp2 NA18612.hp1 NA18943.hp1 NA18966.hp2 NA18969.hp2 NA18980.hp2 NA18993.hp2 NA18998.hp1 NA19002.hp1 NA19056.hp2 NA19063.hp2 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19081.hp2 NA19090.hp2	a0001 a0011 a0015 others(1): Show a0001 a0011 a0015 a0018	a0001c0001 a0011c0018 a0015c0029 others(1): Show a0001c0001 a0011c0018 a0015c0029 a0018c0020	a0001c0001t0003 a0001c0001t0006 a0001c0001t0016 others(4): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0016 a0001c0001t0017 a0011c0018t0003 a0015c0029t0003 a0018c0020t0003	a0001c0001t0003g0003 a0001c0001t0003g0041 a0001c0001t0003g0042 others(23): Show a0001c0001t0003g0003 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0217 a0001c0001t0003g0220 a0001c0001t0003g0223 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0234 a0001c0001t0003g0239 a0001c0001t0003g0245 a0001c0001t0003g0284 a0001c0001t0006g0043 a0001c0001t0006g0218 a0001c0001t0006g0237 a0001c0001t0016g0224 a0001c0001t0017g0229 a0011c0018t0003g0236 a0011c0018t0003g0269 a0015c0029t0003g0235 a0018c0020t0003g0003	35	432	0.0810	8	c.195 others(25): Show c.1958+708_1958+709insGGAAAGAA	UNC45B	ENSG00000141161.12	transcript	ENST00000394570.7	protein_coding	14/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
UNC45B_chr17_35142817_35194343	35180253	T T	TGAGAGAG others(1): Show TGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01261.hp1 HG02622.hp2 others(8): Show HG01257.hp1 HG01261.hp1 HG02622.hp2 HG02922.hp2 HG03669.hp2 HG03831.hp1 HG03942.hp1 HG04199.hp2 NA18969.hp2 NA18987.hp2 NA19043.hp2	a0001 a0003 a0015 a0001 a0003 a0015	a0001c0001 a0001c0004 a0003c0005 others(1): Show a0001c0001 a0001c0004 a0003c0005 a0015c0029	a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 a0003c0005t0001 a0003c0005t0002 a0015c0029t0003	a0001c0001t0001g0054 a0001c0001t0003g0220 a0001c0001t0003g0227 others(8): Show a0001c0001t0001g0054 a0001c0001t0003g0220 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0004t0001g0184 a0001c0004t0001g0185 a0003c0005t0001g0328 a0003c0005t0001g0329 a0003c0005t0001g0330 a0003c0005t0002g0326 a0015c0029t0003g0235	11	175	0.0629	8	c.225 others(25): Show c.2256-277_2256-270dupGAGAGAGA	UNC45B	ENSG00000141161.12	transcript	ENST00000394570.7	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
UNC5A_chr5_176805559_176885898	176805981	A A	AGAAGGAA others(1): Show AGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02647.hp1 NA19030.hp1 HG02630.hp2 HG02647.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0006 a0001c0001t0007 a0001c0004t0002 a0001c0001t0006 a0001c0001t0007 a0001c0004t0002	a0001c0001t0006g0243 a0001c0001t0007g0242 a0001c0004t0002g0078 a0001c0001t0006g0243 a0001c0001t0007g0242 a0001c0004t0002g0078	3	130	0.0231	8	c.-47 others(19): Show c.-4770_-4769insGAAGGAAG	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding		4577		chr5	TogoVar

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