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
ULK4_chr3_41241599_41967103	41338756	CATATATA others(10): Show CATATATATATGACATAT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG03209.hp1 others(1): Show HG02895.hp2 HG02896.hp2 HG03209.hp1 NA18522.hp2	a0010 a0019 a0020 a0010 a0019 a0020	a0010c0011 a0019c0017 a0020c0018 a0010c0011 a0019c0017 a0020c0018	a0010c0011t0002 a0019c0017t0001 a0020c0018t0001 a0010c0011t0002 a0019c0017t0001 a0020c0018t0001	a0010c0011t0002g0010 a0010c0011t0002g0011 a0019c0017t0001g0022 others(1): Show a0010c0011t0002g0010 a0010c0011t0002g0011 a0019c0017t0001g0022 a0020c0018t0001g0050	4	70	0.0571	-17	c.367 others(38): Show c.3678+59306_3678+59322delATATGTCATATATATAT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	35/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41564194	CTGCAGAA others(10): Show CTGCAGAACAGCAAATAA	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	70	0.0143	-17	c.322 others(36): Show c.3226+1814_3226+1830delTTATTTGCTGTTCTGCA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41883768	CAGAGAAA others(10): Show CAGAGAAAAAACAAGTGA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp2 HG01071.hp1 others(32): Show HG00621.hp1 HG00735.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01169.hp1 HG01243.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG02896.hp1 HG02970.hp1 HG03209.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG06807.hp2 NA19043.hp1	a0001 a0006 a0012 others(5): Show a0001 a0006 a0012 a0013 a0014 a0015 a0018 a0021	a0001c0001 a0006c0007 a0012c0020 others(5): Show a0001c0001 a0006c0007 a0012c0020 a0013c0024 a0014c0022 a0015c0023 a0018c0021 a0021c0019	a0001c0001t0001 a0001c0001t0003 a0006c0007t0001 others(6): Show a0001c0001t0001 a0001c0001t0003 a0006c0007t0001 a0012c0020t0001 a0013c0024t0001 a0014c0022t0001 a0015c0023t0001 a0018c0021t0001 a0021c0019t0003	a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 others(32): Show a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0072 a0006c0007t0001g0023 a0006c0007t0001g0025 a0006c0007t0001g0034 a0012c0020t0001g0037 a0013c0024t0001g0027 a0014c0022t0001g0029 a0015c0023t0001g0024 a0018c0021t0001g0045 a0021c0019t0003g0071	35	70	0.5000	-17	c.165 others(33): Show c.1656+89_1656+105delTCACTTGTTTTTTCTCT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	17/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41890851	GAAGGGAT others(10): Show GAAGGGATGCGGGGAAGA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0020 a0020	a0020c0018 a0020c0018	a0020c0018t0001 a0020c0018t0001	a0020c0018t0001g0050 a0020c0018t0001g0050	1	70	0.0143	-17	c.157 others(36): Show c.1577+4650_1577+4666delTCTTCCCCGCATCCCTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	16/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41935201	ATTTATTT others(10): Show ATTTATTTATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0005 a0004c0002t0005	a0004c0002t0005g0068 a0004c0002t0005g0068	1	69	0.0145	-17	c.378 others(32): Show c.378+583_378+599delAAAAAAAAATAAATAAA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	4/36			chr3	TogoVar
UMAD1_chr7_7635752_7884223	7643717	AAAAAAAA others(10): Show AAAAAAAAACAAACAAAC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0232 a0001c0001t0027g0232	1	247	0.0040	-17	c.-64 others(34): Show c.-64+2897_-64+2913delAAAAAAAACAAACAAAC	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	1/3			chr7	TogoVar
UMAD1_chr7_7635752_7884223	7643718	AAAAAAAA others(10): Show AAAAAAAACAAACAAACG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp2 HG00733.hp2 others(80): Show HG00544.hp1 HG00639.hp2 HG00733.hp2 HG00741.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01975.hp1 HG01993.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp2 HG03927.hp1 NA18522.hp2 NA18906.hp2 NA18968.hp2 NA18986.hp2 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0071 a0001c0001t0072 a0001c0001t0074 a0001c0001t0075 a0001c0001t0084 a0001c0002t0073 a0001c0004t0039	a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0031 others(80): Show a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0001g0114 a0001c0001t0002g0015 a0001c0001t0002g0025 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0039 a0001c0001t0002g0046 a0001c0001t0002g0109 a0001c0001t0003g0238 a0001c0001t0005g0024 a0001c0001t0005g0035 a0001c0001t0005g0036 a0001c0001t0005g0038 a0001c0001t0007g0034 a0001c0001t0007g0037 a0001c0001t0007g0041 a0001c0001t0008g0161 a0001c0001t0009g0022 a0001c0001t0009g0123 a0001c0001t0012g0108 a0001c0001t0014g0003 a0001c0001t0014g0009 a0001c0001t0014g0017 a0001c0001t0014g0110 a0001c0001t0014g0219 a0001c0001t0015g0111 a0001c0001t0015g0113 a0001c0001t0016g0145 a0001c0001t0016g0146 a0001c0001t0020g0028 a0001c0001t0020g0030 a0001c0001t0020g0216 a0001c0001t0021g0006 a0001c0001t0021g0027 a0001c0001t0021g0042 a0001c0001t0022g0120 a0001c0001t0022g0239 a0001c0001t0024g0040 a0001c0001t0024g0236 a0001c0001t0026g0230 a0001c0001t0027g0221 a0001c0001t0027g0234 a0001c0001t0028g0019 a0001c0001t0029g0215 a0001c0001t0029g0217 a0001c0001t0032g0020 a0001c0001t0032g0112 a0001c0001t0034g0164 a0001c0001t0035g0228 a0001c0001t0036g0163 a0001c0001t0036g0231 a0001c0001t0037g0220 a0001c0001t0037g0229 a0001c0001t0039g0160 a0001c0001t0040g0005 a0001c0001t0041g0235 a0001c0001t0042g0162 a0001c0001t0043g0143 a0001c0001t0043g0144 a0001c0001t0044g0121 a0001c0001t0053g0021 a0001c0001t0054g0233 a0001c0001t0055g0237 a0001c0001t0057g0122 a0001c0001t0058g0165 a0001c0001t0059g0157 a0001c0001t0060g0213 a0001c0001t0061g0158 a0001c0001t0064g0190 a0001c0001t0065g0214 a0001c0001t0066g0115 a0001c0001t0067g0227 a0001c0001t0071g0004 a0001c0001t0072g0026 a0001c0001t0074g0240 a0001c0001t0075g0016 a0001c0001t0084g0188 a0001c0002t0073g0241 a0001c0004t0039g0159	83	248	0.3347	-17	c.-64 others(34): Show c.-64+2905_-64+2921delCAAACAAACGAAAAAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7660756	GGTGAATC others(10): Show GGTGAATCTGGCAATTAT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG01123.hp1 others(12): Show HG00140.hp1 HG00639.hp1 HG01123.hp1 HG01255.hp1 HG01256.hp1 HG02735.hp1 NA18959.hp2 NA18960.hp1 NA18975.hp2 NA18984.hp1 NA19001.hp2 NA19004.hp2 NA19011.hp1 NA19076.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0017 others(5): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 a0001c0001t0031 a0001c0001t0033 a0001c0001t0038	a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0200 others(12): Show a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0007g0195 a0001c0001t0017g0202 a0001c0001t0018g0198 a0001c0001t0023g0203 a0001c0001t0031g0209 a0001c0001t0033g0204 a0001c0001t0038g0199	15	248	0.0605	-17	c.-63 others(36): Show c.-63-12549_-63-12533delAATCTGGCAATTATGTG	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7790248	CTTGTGTA others(10): Show CTTGTGTACACCGGAATG	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0196 a0001c0002t0001g0196	1	248	0.0040	-17	c.83- others(34): Show c.83-11420_83-11404delTGTGTACACCGGAATGT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7835462	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01993.hp1 HG02135.hp2 others(2): Show HG00558.hp2 HG01993.hp1 HG02135.hp2 NA18957.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0011 others(1): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0011 a0001c0001t0069	a0001c0001t0002g0109 a0001c0001t0010g0168 a0001c0001t0011g0023 others(2): Show a0001c0001t0002g0109 a0001c0001t0010g0168 a0001c0001t0011g0023 a0001c0001t0011g0044 a0001c0001t0069g0051	5	26	0.1923	-17	c.156 others(36): Show c.156+33741_156+33757delTTTTTTTTTTTTTTTTT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7847099	AAAAAAAT others(10): Show AAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0146 a0001c0001t0016g0146	1	229	0.0044	-17	c.157 others(36): Show c.157-30180_157-30164delAAAAATATATATATATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7847103	AAATATAT others(10): Show AAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp1 HG02109.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0052 a0001c0001t0036 a0001c0001t0052	a0001c0001t0036g0231 a0001c0001t0052g0134 a0001c0001t0036g0231 a0001c0001t0052g0134	2	210	0.0095	-17	c.157 others(36): Show c.157-30176_157-30160delATATATATATATATATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7847105	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0228 a0001c0001t0035g0228	1	226	0.0044	-17	c.157 others(36): Show c.157-30175_157-30159delTATATATATATATATAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3			chr7	TogoVar
UMODL1_chr21_42066317_42147996	42130492	AGTTGTCC others(10): Show AGTTGTCCCGTAGTATCT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0015 a0015	a0015c0016 a0015c0016	a0015c0016t0002 a0015c0016t0002	a0015c0016t0002g0128 a0015c0016t0002g0128	1	398	0.0025	-17	c.377 others(34): Show c.3775+699_3775+715delGTCCCGTAGTATCTGTT	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42140682	TCCCAGTT others(10): Show TCCCAGTTGAGAGGCAGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00438.hp1 others(81): Show HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00621.hp2 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01515.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03130.hp1 HG03239.hp2 HG03453.hp2 HG03491.hp1 HG03654.hp2 HG03710.hp2 HG04184.hp2 NA18906.hp2 NA18939.hp1 NA18943.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18962.hp2 NA18966.hp1 NA18969.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18980.hp1 NA18985.hp1 NA18992.hp1 NA18999.hp2 NA19000.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19057.hp1 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19087.hp2 NA19091.hp1	a0004 a0006 a0009 others(33): Show a0004 a0006 a0009 a0015 a0017 a0030 a0031 a0033 a0034 a0036 a0037 a0046 a0048 a0049 a0051 a0052 a0055 a0066 a0069 a0075 a0076 a0078 a0088 a0089 a0094 a0096 a0101 a0104 a0105 a0106 a0107 a0108 a0112 a0117 a0118 a0119	a0004c0007 a0004c0031 a0004c0056 others(45): Show a0004c0007 a0004c0031 a0004c0056 a0004c0118 a0004c0188 a0006c0003 a0009c0017 a0015c0016 a0017c0011 a0030c0024 a0031c0060 a0031c0094 a0033c0061 a0033c0116 a0034c0052 a0034c0111 a0036c0049 a0036c0091 a0037c0047 a0037c0152 a0046c0144 a0046c0175 a0048c0132 a0048c0174 a0049c0168 a0049c0169 a0051c0059 a0052c0038 a0055c0080 a0066c0081 a0069c0190 a0075c0166 a0076c0117 a0078c0098 a0088c0085 a0089c0108 a0094c0068 a0096c0097 a0101c0086 a0104c0072 a0105c0167 a0106c0178 a0107c0179 a0108c0124 a0112c0088 a0117c0077 a0118c0083 a0119c0082	a0004c0007t0002 a0004c0031t0002 a0004c0056t0002 others(45): Show a0004c0007t0002 a0004c0031t0002 a0004c0056t0002 a0004c0118t0002 a0004c0188t0002 a0006c0003t0002 a0009c0017t0006 a0015c0016t0002 a0017c0011t0002 a0030c0024t0012 a0031c0060t0002 a0031c0094t0002 a0033c0061t0002 a0033c0116t0002 a0034c0052t0002 a0034c0111t0012 a0036c0049t0002 a0036c0091t0002 a0037c0047t0002 a0037c0152t0002 a0046c0144t0002 a0046c0175t0002 a0048c0132t0002 a0048c0174t0002 a0049c0168t0002 a0049c0169t0002 a0051c0059t0002 a0052c0038t0014 a0055c0080t0002 a0066c0081t0006 a0069c0190t0006 a0075c0166t0002 a0076c0117t0002 a0078c0098t0002 a0088c0085t0002 a0089c0108t0002 a0094c0068t0002 a0096c0097t0002 a0101c0086t0002 a0104c0072t0014 a0105c0167t0002 a0106c0178t0002 a0107c0179t0002 a0108c0124t0002 a0112c0088t0002 a0117c0077t0002 a0118c0083t0002 a0119c0082t0002	a0004c0007t0002g0018 a0004c0007t0002g0164 a0004c0007t0002g0168 others(80): Show a0004c0007t0002g0018 a0004c0007t0002g0164 a0004c0007t0002g0168 a0004c0007t0002g0187 a0004c0007t0002g0203 a0004c0007t0002g0205 a0004c0007t0002g0207 a0004c0007t0002g0224 a0004c0007t0002g0385 a0004c0031t0002g0241 a0004c0031t0002g0311 a0004c0031t0002g0354 a0004c0056t0002g0036 a0004c0056t0002g0061 a0004c0118t0002g0121 a0004c0188t0002g0087 a0006c0003t0002g0055 a0006c0003t0002g0094 a0006c0003t0002g0096 a0006c0003t0002g0099 a0006c0003t0002g0100 a0006c0003t0002g0101 a0006c0003t0002g0170 a0006c0003t0002g0171 a0006c0003t0002g0199 a0006c0003t0002g0237 a0006c0003t0002g0318 a0006c0003t0002g0321 a0009c0017t0006g0328 a0015c0016t0002g0114 a0015c0016t0002g0127 a0015c0016t0002g0128 a0015c0016t0002g0132 a0015c0016t0002g0142 a0017c0011t0002g0245 a0017c0011t0002g0246 a0017c0011t0002g0247 a0017c0011t0002g0264 a0030c0024t0012g0011 a0030c0024t0012g0360 a0031c0060t0002g0215 a0031c0060t0002g0216 a0031c0094t0002g0283 a0033c0061t0002g0196 a0033c0061t0002g0344 a0033c0116t0002g0109 a0034c0052t0002g0262 a0034c0052t0002g0284 a0034c0111t0012g0275 a0036c0049t0002g0021 a0036c0049t0002g0022 a0036c0091t0002g0098 a0037c0047t0002g0286 a0037c0152t0002g0054 a0046c0144t0002g0026 a0046c0175t0002g0110 a0048c0132t0002g0198 a0048c0174t0002g0332 a0049c0168t0002g0092 a0049c0169t0002g0091 a0051c0059t0002g0200 a0052c0038t0014g0235 a0052c0038t0014g0297 a0055c0080t0002g0234 a0066c0081t0006g0302 a0069c0190t0006g0058 a0075c0166t0002g0290 a0076c0117t0002g0032 a0078c0098t0002g0243 a0088c0085t0002g0218 a0089c0108t0002g0159 a0094c0068t0002g0278 a0096c0097t0002g0112 a0101c0086t0002g0013 a0104c0072t0014g0255 a0105c0167t0002g0190 a0106c0178t0002g0181 a0107c0179t0002g0384 a0108c0124t0002g0206 a0112c0088t0002g0188 a0117c0077t0002g0035 a0118c0083t0002g0230 a0119c0082t0002g0251	84	398	0.2111	-17	c.22 others(34): Show c.22-1413_*22-1397delCCCAGTTGAGAGGCAGC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	22/22			chr21	TogoVar
UMPS_chr3_124725452_124754273	124750093	AGGGCGGC others(10): Show AGGGCGGCTGGCCGGACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00423.hp1 others(113): Show HG00099.hp2 HG00140.hp2 HG00423.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01361.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01934.hp2 HG01978.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02074.hp1 HG02132.hp1 HG02148.hp1 HG02165.hp2 HG02273.hp1 HG02523.hp1 HG02559.hp1 HG02622.hp2 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG02922.hp1 HG03195.hp2 HG03490.hp1 HG03492.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp1 NA18940.hp1 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18954.hp1 NA18955.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp2 NA19004.hp1 NA19005.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19077.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0013 a0003c0003 others(1): Show a0001c0001 a0001c0013 a0003c0003 a0003c0008	a0001c0001t0001 a0001c0001t0018 a0001c0001t0023 others(14): Show a0001c0001t0001 a0001c0001t0018 a0001c0001t0023 a0001c0001t0041 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0086 a0001c0001t0098 a0001c0013t0001 a0003c0003t0008 a0003c0003t0032 a0003c0003t0044 a0003c0003t0045 a0003c0003t0097 a0003c0008t0008	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(37): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0018g0001 a0001c0001t0023g0022 a0001c0001t0023g0035 a0001c0001t0041g0022 a0001c0001t0071g0125 a0001c0001t0072g0001 a0001c0001t0073g0022 a0001c0001t0074g0122 a0001c0001t0086g0001 a0001c0001t0098g0001 a0001c0013t0001g0009 a0003c0003t0008g0006 a0003c0003t0032g0006 a0003c0003t0032g0093 a0003c0003t0044g0006 a0003c0003t0045g0006 a0003c0003t0045g0091 a0003c0003t0097g0006 a0003c0008t0008g0006 a0003c0008t0008g0092	116	432	0.2685	-17	c.60 others(28): Show c.6010_*6026delGGGCGGCTGGCCGGACG	UMPS	ENSG00000114491.14	transcript	ENST00000232607.7	protein_coding		821		chr3	TogoVar
UNC13C_chr15_53973441_54633605	54075414	GCGGAGCT others(10): Show GCGGAGCTTGCAGTGAGC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00639.hp1 HG01109.hp2 others(62): Show HG00423.hp2 HG00639.hp1 HG01109.hp2 HG01123.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01515.hp1 HG01891.hp1 HG01978.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03927.hp1 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18964.hp2 NA18979.hp1 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18993.hp2 NA19064.hp2 NA19081.hp2 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0012 a0001c0014 a0001c0021 a0001c0029 a0001c0035 a0002c0015 a0002c0016 a0002c0017 a0002c0019 a0003c0008 a0003c0038 a0004c0026 a0005c0011 a0007c0010 a0008c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(49): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0025 a0001c0001t0029 a0001c0001t0030 a0001c0001t0037 a0001c0001t0059 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0020 a0001c0002t0021 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0001c0002t0048 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0009 a0001c0003t0010 a0001c0003t0042 a0001c0004t0018 a0001c0004t0028 a0001c0004t0052 a0001c0005t0003 a0001c0007t0001 a0001c0012t0017 a0001c0014t0002 a0001c0021t0013 a0001c0029t0046 a0001c0035t0001 a0002c0015t0012 a0002c0016t0004 a0002c0017t0007 a0002c0019t0031 a0003c0008t0015 a0003c0038t0011 a0004c0026t0001 a0005c0011t0003 a0007c0010t0002 a0008c0023t0043	a0001c0001t0001g0004 a0001c0001t0002g0067 a0001c0001t0002g0074 others(62): Show a0001c0001t0001g0004 a0001c0001t0002g0067 a0001c0001t0002g0074 a0001c0001t0002g0141 a0001c0001t0006g0124 a0001c0001t0006g0137 a0001c0001t0007g0016 a0001c0001t0011g0150 a0001c0001t0012g0057 a0001c0001t0015g0070 a0001c0001t0016g0115 a0001c0001t0017g0136 a0001c0001t0019g0042 a0001c0001t0025g0003 a0001c0001t0029g0090 a0001c0001t0030g0142 a0001c0001t0037g0158 a0001c0001t0059g0147 a0001c0002t0001g0005 a0001c0002t0001g0040 a0001c0002t0005g0123 a0001c0002t0005g0126 a0001c0002t0006g0112 a0001c0002t0008g0075 a0001c0002t0008g0081 a0001c0002t0009g0134 a0001c0002t0020g0024 a0001c0002t0020g0041 a0001c0002t0021g0080 a0001c0002t0022g0086 a0001c0002t0022g0092 a0001c0002t0023g0064 a0001c0002t0023g0098 a0001c0002t0024g0138 a0001c0002t0048g0111 a0001c0003t0002g0088 a0001c0003t0003g0065 a0001c0003t0003g0103 a0001c0003t0005g0120 a0001c0003t0009g0110 a0001c0003t0010g0023 a0001c0003t0010g0026 a0001c0003t0042g0107 a0001c0004t0018g0096 a0001c0004t0028g0148 a0001c0004t0052g0036 a0001c0005t0003g0066 a0001c0007t0001g0029 a0001c0012t0017g0109 a0001c0014t0002g0076 a0001c0021t0013g0038 a0001c0021t0013g0039 a0001c0029t0046g0143 a0001c0035t0001g0001 a0002c0015t0012g0054 a0002c0016t0004g0053 a0002c0016t0004g0055 a0002c0017t0007g0060 a0002c0019t0031g0071 a0003c0008t0015g0105 a0003c0038t0011g0002 a0004c0026t0001g0022 a0005c0011t0003g0078 a0007c0010t0002g0139 a0008c0023t0043g0129	65	154	0.4221	-17	c.298 others(38): Show c.2983+59599_2983+59615delGAGCTTGCAGTGAGCCG	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54625310	TTTCTATT others(10): Show TTTCTATTGCAAACAGCA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03486.hp1 NA20129.hp2 HG03098.hp2 HG03486.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0022 a0001c0002t0051 a0001c0004t0028 a0001c0002t0022 a0001c0002t0051 a0001c0004t0028	a0001c0002t0022g0092 a0001c0002t0051g0157 a0001c0004t0028g0148 a0001c0002t0022g0092 a0001c0002t0051g0157 a0001c0004t0028g0148	3	156	0.0192	-17	c.635 others(36): Show c.6359+1374_6359+1390delTTCTATTGCAAACAGCA	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	32/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC50_chr2_98603589_98623515	98619076	TTAACAAA others(10): Show TTAACAAAGTTAATAATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	412	0.0024	-17	c.77 others(26): Show c.773_*789delTAACAAAGTTAATAATA	UNC50	ENSG00000115446.12	transcript	ENST00000357765.7	protein_coding		562		chr2	TogoVar
UNC5CL_chr6_41021895_41044221	41041325	TCCACCCT others(10): Show TCCACCCTCCTCCCAGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	382	0.0026	-17	c.-22 others(28): Show c.-2242_-2226delGGCTGGGAGGAGGGTGG	UNC5CL	ENSG00000124602.10	transcript	ENST00000244565.8	protein_coding		2105		chr6	TogoVar
UNC5C_chr4_95157504_95553973	95192753	CCTTGCCC others(10): Show CCTTGCCCTGCATAACAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0038 a0002c0008t0002g0038	1	204	0.0049	-17	c.213 others(36): Show c.2137-7574_2137-7558delTTGTTATGCAGGGCAAG	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95212302	TCTTTCTT others(10): Show TCTTTCTTTACATTTTTA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02280.hp1 HG02280.hp2 others(5): Show HG00733.hp1 HG02280.hp1 HG02280.hp2 HG02622.hp2 HG02698.hp1 HG02895.hp2 HG03540.hp1 NA19030.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0003 a0001c0027 a0001c0037 others(3): Show a0001c0003 a0001c0027 a0001c0037 a0002c0026 a0002c0036 a0008c0035	a0001c0003t0003 a0001c0003t0013 a0001c0027t0001 others(4): Show a0001c0003t0003 a0001c0003t0013 a0001c0027t0001 a0001c0037t0037 a0002c0026t0002 a0002c0036t0022 a0008c0035t0002	a0001c0003t0003g0191 a0001c0003t0013g0057 a0001c0003t0013g0078 others(5): Show a0001c0003t0003g0191 a0001c0003t0013g0057 a0001c0003t0013g0078 a0001c0027t0001g0177 a0001c0037t0037g0199 a0002c0026t0002g0050 a0002c0036t0022g0104 a0008c0035t0002g0106	8	204	0.0392	-17	c.173 others(36): Show c.1733+3805_1733+3821delTAAAAATGTAAAGAAAG	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	10/15			chr4	TogoVar
UNC5D_chr8_35230475_35801540	35498079	CAAAACAA others(10): Show CAAAACAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00597.hp1 others(17): Show HG00438.hp1 HG00438.hp2 HG00597.hp1 HG01123.hp2 HG01928.hp1 HG02083.hp1 HG02129.hp1 HG02257.hp1 HG02257.hp2 HG02615.hp1 HG02886.hp2 HG02922.hp1 HG03130.hp2 HG03225.hp1 HG03471.hp1 HG03516.hp1 HG03688.hp2 NA18522.hp1 NA18983.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0019 a0001c0002t0015 a0001c0003t0003 a0001c0003t0011 a0001c0003t0012 a0001c0003t0014 a0001c0004t0003 a0001c0009t0001 a0002c0005t0018	a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0028 others(17): Show a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0002g0018 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0006g0010 a0001c0001t0019g0011 a0001c0002t0015g0043 a0001c0003t0003g0008 a0001c0003t0003g0022 a0001c0003t0011g0056 a0001c0003t0012g0058 a0001c0003t0014g0040 a0001c0004t0003g0004 a0001c0009t0001g0036 a0002c0005t0018g0054	20	47	0.4255	-17	c.104 others(36): Show c.104-51208_104-51192delCAAAAAAAAAAAAAAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC79_chr14_93425939_93712876	93490477	ACTTTGCT others(10): Show ACTTTGCTAAGAAATTTT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03453.hp1 HG03516.hp1 HG02965.hp1 HG03453.hp1 HG03516.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0001 a0001c0019t0001g0002 a0001c0019t0001g0171 a0001c0019t0001g0001 a0001c0019t0001g0002 a0001c0019t0001g0171	3	192	0.0156	-17	c.712 others(34): Show c.712+2726_712+2742delTGCTAAGAAATTTTCTT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	5/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC79_chr14_93425939_93712876	93558593	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp1 HG00735.hp2 others(18): Show HG00323.hp2 HG00597.hp1 HG00735.hp2 HG00741.hp2 HG01168.hp1 HG01168.hp2 HG02135.hp2 HG02273.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02717.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG03017.hp2 HG03098.hp2 HG03225.hp1 HG03486.hp2 NA18962.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0001c0005 a0001c0009 others(9): Show a0001c0001 a0001c0005 a0001c0009 a0001c0020 a0001c0021 a0001c0035 a0002c0003 a0002c0007 a0002c0040 a0003c0004 a0004c0012 a0008c0026	a0001c0001t0001 a0001c0005t0001 a0001c0009t0001 others(9): Show a0001c0001t0001 a0001c0005t0001 a0001c0009t0001 a0001c0020t0001 a0001c0021t0001 a0001c0035t0001 a0002c0003t0001 a0002c0007t0001 a0002c0040t0001 a0003c0004t0001 a0004c0012t0001 a0008c0026t0001	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0059 others(18): Show a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0084 a0001c0001t0001g0133 a0001c0005t0001g0153 a0001c0009t0001g0191 a0001c0020t0001g0083 a0001c0021t0001g0190 a0001c0021t0001g0192 a0001c0035t0001g0011 a0002c0003t0001g0115 a0002c0003t0001g0136 a0002c0003t0001g0150 a0002c0007t0001g0072 a0002c0040t0001g0097 a0003c0004t0001g0154 a0003c0004t0001g0155 a0004c0012t0001g0147 a0008c0026t0001g0085	21	23	0.9130	-17	c.175 others(38): Show c.1756-13273_1756-13257delTTTTTTTTTTTTTTTTT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	14/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC80_chr2_209766832_210004296	209804756	TTTTTTTG others(10): Show TTTTTTTGTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00544.hp1 others(98): Show HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02258.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG04204.hp1 HG04228.hp2 NA18906.hp1 NA18906.hp2 NA18957.hp1 NA18957.hp2 NA18979.hp1 NA18991.hp2 NA18995.hp2 NA19003.hp2 NA19043.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19066.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0007 a0009 a0010 a0012 a0015	a0001c0001 a0001c0002 a0001c0006 others(27): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0008 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0029 a0001c0031 a0001c0032 a0001c0034 a0001c0035 a0001c0038 a0001c0042 a0001c0048 a0002c0011 a0002c0018 a0002c0033 a0002c0055 a0004c0019 a0004c0020 a0005c0037 a0005c0046 a0007c0036 a0009c0030 a0010c0053 a0012c0052 a0015c0039	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0010 a0001c0002t0011 a0001c0006t0001 a0001c0006t0002 a0001c0007t0001 a0001c0008t0004 a0001c0012t0001 a0001c0013t0002 a0001c0013t0010 a0001c0014t0001 a0001c0015t0001 a0001c0029t0001 a0001c0031t0003 a0001c0032t0003 a0001c0034t0003 a0001c0035t0001 a0001c0038t0004 a0001c0042t0003 a0001c0048t0001 a0002c0011t0001 a0002c0018t0001 a0002c0033t0001 a0002c0055t0001 a0004c0019t0001 a0004c0020t0006 a0005c0037t0003 a0005c0046t0001 a0007c0036t0001 a0009c0030t0002 a0010c0053t0001 a0012c0052t0003 a0015c0039t0003	a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0063 others(98): Show a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0065 a0001c0001t0002g0072 a0001c0001t0002g0100 a0001c0001t0003g0021 a0001c0001t0003g0145 a0001c0001t0003g0153 a0001c0001t0003g0155 a0001c0001t0003g0158 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0178 a0001c0001t0004g0142 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0165 a0001c0001t0004g0173 a0001c0001t0004g0176 a0001c0001t0005g0148 a0001c0001t0006g0050 a0001c0001t0007g0028 a0001c0001t0009g0146 a0001c0001t0009g0147 a0001c0001t0012g0177 a0001c0001t0013g0058 a0001c0001t0014g0073 a0001c0002t0001g0029 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0099 a0001c0002t0002g0052 a0001c0002t0002g0057 a0001c0002t0002g0059 a0001c0002t0002g0069 a0001c0002t0002g0074 a0001c0002t0003g0141 a0001c0002t0003g0166 a0001c0002t0003g0175 a0001c0002t0004g0151 a0001c0002t0005g0139 a0001c0002t0005g0140 a0001c0002t0005g0143 a0001c0002t0005g0164 a0001c0002t0010g0051 a0001c0002t0011g0068 a0001c0006t0001g0001 a0001c0006t0001g0089 a0001c0006t0001g0090 a0001c0006t0002g0078 a0001c0006t0002g0179 a0001c0007t0001g0038 a0001c0008t0004g0150 a0001c0008t0004g0160 a0001c0012t0001g0044 a0001c0013t0002g0183 a0001c0013t0010g0181 a0001c0014t0001g0040 a0001c0014t0001g0042 a0001c0015t0001g0018 a0001c0015t0001g0019 a0001c0029t0001g0045 a0001c0031t0003g0159 a0001c0032t0003g0174 a0001c0034t0003g0144 a0001c0035t0001g0185 a0001c0038t0004g0154 a0001c0042t0003g0161 a0001c0048t0001g0046 a0002c0011t0001g0007 a0002c0011t0001g0008 a0002c0011t0001g0010 a0002c0018t0001g0005 a0002c0018t0001g0006 a0002c0033t0001g0071 a0002c0055t0001g0009 a0004c0019t0001g0091 a0004c0020t0006g0092 a0005c0037t0003g0172 a0005c0046t0001g0101 a0007c0036t0001g0062 a0009c0030t0002g0064 a0010c0053t0001g0030 a0012c0052t0003g0149 a0015c0039t0003g0152	101	186	0.5430	-17	c.939 others(34): Show c.939-8817_939-8801delGTTTTGTTTTGTTTTTT	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	7/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC93A_chr6_167286315_167321014	167295471	GCCTCCCT others(10): Show GCCTCCCTCGTGAACCTC	G G	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02165.hp2 HG02280.hp2 others(10): Show HG01975.hp1 HG02165.hp2 HG02280.hp2 HG03239.hp1 HG03492.hp1 NA18747.hp1 NA18948.hp1 NA18952.hp2 NA18985.hp2 NA18997.hp2 NA19058.hp2 NA19070.hp2 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0009 a0012	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0009c0012 a0012c0015	a0001c0001t0001 a0002c0002t0004 a0002c0002t0005 others(3): Show a0001c0001t0001 a0002c0002t0004 a0002c0002t0005 a0003c0003t0003 a0009c0012t0003 a0012c0015t0001	a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 others(9): Show a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0002c0002t0004g0054 a0002c0002t0004g0301 a0002c0002t0004g0303 a0002c0002t0005g0345 a0003c0003t0003g0017 a0003c0003t0003g0306 a0009c0012t0003g0312 a0012c0015t0001g0302	13	421	0.0309	-17	c.270 others(32): Show c.270-560_270-544delCCTCCCTCGTGAACCTC	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7			chr6	TogoVar
UNC93A_chr6_167286315_167321014	167295579	GCCTGCCT others(10): Show GCCTGCCTCGTGCTCCTC	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18522.hp2 NA20129.hp2 HG03098.hp1 NA18522.hp2 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0013 a0005c0010 a0001c0013 a0005c0010	a0001c0013t0001 a0005c0010t0004 a0001c0013t0001 a0005c0010t0004	a0001c0013t0001g0319 a0001c0013t0001g0320 a0005c0010t0004g0317 a0001c0013t0001g0319 a0001c0013t0001g0320 a0005c0010t0004g0317	3	446	0.0067	-17	c.270 others(32): Show c.270-452_270-436delCCTGCCTCGTGCTCCTC	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7			chr6	TogoVar
UNKL_chr16_1358205_1419704	1399666	AAGGACTC others(10): Show AAGGACTCGCGCTCCATG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03041.hp1 HG06807.hp1 HG01884.hp1 HG03041.hp1 HG06807.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0024 a0001c0008t0043 a0001c0008t0024 a0001c0008t0043	a0001c0008t0024g0251 a0001c0008t0024g0252 a0001c0008t0043g0105 a0001c0008t0024g0251 a0001c0008t0024g0252 a0001c0008t0043g0105	3	320	0.0094	-17	c.599 others(32): Show c.599-174_599-158delCATGGAGCGCGAGTCCT	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	4/14			chr16	TogoVar
UNKL_chr16_1358205_1419704	1400417	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02055.hp2 HG02145.hp2 others(12): Show HG01070.hp2 HG02055.hp2 HG02145.hp2 HG02258.hp2 HG02486.hp2 HG02723.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp2 HG03225.hp2 HG03516.hp2 NA19030.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0007 a0001c0012 others(1): Show a0001c0001 a0001c0007 a0001c0012 a0005c0015	a0001c0001t0010 a0001c0001t0012 a0001c0001t0029 others(5): Show a0001c0001t0010 a0001c0001t0012 a0001c0001t0029 a0001c0001t0032 a0001c0007t0028 a0001c0012t0019 a0001c0012t0053 a0005c0015t0012	a0001c0001t0010g0055 a0001c0001t0010g0056 a0001c0001t0010g0057 others(12): Show a0001c0001t0010g0055 a0001c0001t0010g0056 a0001c0001t0010g0057 a0001c0001t0010g0059 a0001c0001t0010g0062 a0001c0001t0012g0054 a0001c0001t0012g0058 a0001c0001t0012g0060 a0001c0001t0029g0061 a0001c0001t0032g0063 a0001c0001t0032g0064 a0001c0007t0028g0009 a0001c0012t0019g0301 a0001c0012t0053g0015 a0005c0015t0012g0019	15	16	0.9375	-17	c.599 others(32): Show c.599-925_599-909delTTTTTTTTTTTTTTTTT	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	4/14			chr16	TogoVar
UNKL_chr16_1358205_1419704	1413243	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(133): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp2 HG01123.hp1 HG01243.hp1 HG01258.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01934.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18990.hp1 NA18990.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0007 a0009 a0010 a0011 a0012	a0001c0001 a0001c0003 a0001c0008 others(13): Show a0001c0001 a0001c0003 a0001c0008 a0001c0011 a0001c0013 a0002c0002 a0002c0006 a0002c0014 a0002c0019 a0002c0030 a0004c0010 a0007c0023 a0009c0021 a0010c0022 a0011c0017 a0012c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0034 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0049 a0001c0001t0052 a0001c0001t0061 a0001c0001t0064 a0001c0001t0065 a0001c0003t0001 a0001c0003t0036 a0001c0003t0045 a0001c0008t0043 a0001c0011t0006 a0001c0013t0030 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0011 a0002c0002t0016 a0002c0002t0031 a0002c0002t0057 a0002c0002t0062 a0002c0006t0003 a0002c0006t0020 a0002c0006t0044 a0002c0006t0051 a0002c0014t0063 a0002c0019t0001 a0002c0030t0002 a0004c0010t0002 a0007c0023t0050 a0009c0021t0047 a0010c0022t0016 a0011c0017t0001 a0012c0024t0035	a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0001t0001g0034 others(131): Show a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0049 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0089 a0001c0001t0002g0093 a0001c0001t0002g0107 a0001c0001t0004g0079 a0001c0001t0004g0104 a0001c0001t0004g0168 a0001c0001t0005g0070 a0001c0001t0005g0099 a0001c0001t0006g0001 a0001c0001t0006g0097 a0001c0001t0006g0098 a0001c0001t0015g0088 a0001c0001t0015g0155 a0001c0001t0015g0157 a0001c0001t0016g0154 a0001c0001t0016g0156 a0001c0001t0020g0163 a0001c0001t0020g0164 a0001c0001t0034g0111 a0001c0001t0037g0151 a0001c0001t0038g0162 a0001c0001t0040g0102 a0001c0001t0049g0095 a0001c0001t0052g0161 a0001c0001t0061g0126 a0001c0001t0064g0043 a0001c0001t0065g0147 a0001c0003t0001g0080 a0001c0003t0001g0082 a0001c0003t0001g0121 a0001c0003t0001g0122 a0001c0003t0001g0123 a0001c0003t0001g0124 a0001c0003t0001g0134 a0001c0003t0001g0136 a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0169 a0001c0003t0036g0116 a0001c0003t0045g0165 a0001c0008t0043g0105 a0001c0011t0006g0094 a0001c0011t0006g0096 a0001c0013t0030g0013 a0001c0013t0030g0014 a0002c0002t0001g0025 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0031 a0002c0002t0001g0033 a0002c0002t0001g0036 a0002c0002t0001g0039 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0048 a0002c0002t0001g0071 a0002c0002t0001g0118 a0002c0002t0001g0128 a0002c0002t0001g0135 a0002c0002t0001g0146 a0002c0002t0001g0159 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0002g0041 a0002c0002t0002g0100 a0002c0002t0003g0042 a0002c0002t0008g0030 a0002c0002t0008g0085 a0002c0002t0008g0143 a0002c0002t0011g0026 a0002c0002t0016g0152 a0002c0002t0031g0091 a0002c0002t0057g0153 a0002c0002t0062g0086 a0002c0006t0003g0108 a0002c0006t0003g0112 a0002c0006t0003g0114 a0002c0006t0020g0072 a0002c0006t0044g0110 a0002c0006t0051g0109 a0002c0014t0063g0003 a0002c0019t0001g0035 a0002c0030t0002g0101 a0004c0010t0002g0077 a0007c0023t0050g0103 a0009c0021t0047g0113 a0010c0022t0016g0150 a0011c0017t0001g0087 a0012c0024t0035g0074	136	141	0.9645	-17	c.287 others(32): Show c.287+586_287+602delTTTTTTTTTTTTTTTTT	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	2/14			chr16	TogoVar
UPB1_chr22_24490332_24533390	24509361	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02559.hp1 others(1): Show HG01884.hp2 HG01891.hp2 HG02559.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0002 a0001c0001t0027 a0001c0001t0044 others(1): Show a0001c0001t0002 a0001c0001t0027 a0001c0001t0044 a0001c0010t0021	a0001c0001t0002g0049 a0001c0001t0027g0162 a0001c0001t0044g0247 others(1): Show a0001c0001t0002g0049 a0001c0001t0027g0162 a0001c0001t0044g0247 a0001c0010t0021g0223	4	61	0.0656	-17	c.365 others(34): Show c.365-1369_365-1353delAAAAAAAAAAAAAAAAA	UPB1	ENSG00000100024.15	transcript	ENST00000326010.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
UPF2_chr10_11915022_12047809	11938842	GTTTTTTT others(10): Show GTTTTTTTTTTGTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0105 a0001c0001t0006g0105	1	311	0.0032	-17	c.337 others(36): Show c.3379-2147_3379-2131delAAAAAACAAAAAAAAAA	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	18/21			chr10	TogoVar
UPK3BL2_chr7_102532919_102548696	102544127	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03688.hp2 HG03209.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	4	0.5000	-17	c.-50 others(26): Show c.-508_-492delTTTTTTTTTTTTTTTTT	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding		432		chr7	TogoVar
UQCC6_chr12_103945194_103962215	103957990	ATATTTAT others(10): Show ATATTTATAATATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG03927.hp2 HG02602.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	460	0.0043	-17	c.-94 others(26): Show c.-949_-933delAATATATATTATAAATA	UQCC6	ENSG00000204954.10	transcript	ENST00000378090.9	protein_coding		776		chr12	TogoVar
UQCRB_chr8_96217947_96240545	96224852	CATGACCT others(10): Show CATGACCTCAGAGGCAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0094 a0001c0001t0059g0094	1	382	0.0026	-17	c.61 others(28): Show c.6186_*6202delTTTGCCTCTGAGGTCAT	UQCRB	ENSG00000156467.10	transcript	ENST00000287022.10	protein_coding	4/4	6186		chr8	TogoVar
URI1_chr19_29937239_30021612	29985119	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02896.hp2 HG03239.hp1 others(5): Show HG02071.hp2 HG02896.hp2 HG03239.hp1 HG03516.hp1 NA19012.hp2 NA19030.hp2 NA19057.hp1 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003	a0002c0002t0001g0033 a0002c0002t0002g0258 a0002c0002t0002g0268 others(5): Show a0002c0002t0001g0033 a0002c0002t0002g0258 a0002c0002t0002g0268 a0002c0002t0002g0289 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0003g0017 a0002c0002t0003g0019	8	9	0.8889	-17	c.153 others(30): Show c.153-62_153-46delAAAAAAAAAAAAAAAAA	URI1	ENSG00000105176.18	transcript	ENST00000392271.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
UROS_chr10_125783586_125828258	125828179	TTGGGTCT others(10): Show TTGGGTCTGAAAGTGAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	406	0.0025	-17	c.-51 others(28): Show c.-5194_-5178delTCTCACTTTCAGACCCA	UROS	ENSG00000188690.16	transcript	ENST00000368797.10	protein_coding		4922		chr10	TogoVar
USF2_chr19_35263962_35284821	35284667	CTCCTAAG others(10): Show CTCCTAAGAGTCCATTTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	424	0.0024	-17	c.54 others(28): Show c.5412_*5428delTCCTAAGAGTCCATTTG	USF2	ENSG00000105698.16	transcript	ENST00000222305.8	protein_coding		4847		chr19	TogoVar
USH1C_chr11_17488900_17549416	17548418	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02895.hp2 HG01884.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0165 a0001c0003t0001g0072 a0001c0001t0001g0165 a0001c0003t0001g0072	2	24	0.0833	-17	c.-41 others(28): Show c.-4128_-4112delAAAAAAAAAAAAAAAAA	USH1C	ENSG00000006611.17	transcript	ENST00000005226.12	protein_coding		4003		chr11	TogoVar
USH2A_chr1_215617891_216428448	216053251	TAAAAAGA others(10): Show TAAAAAGAATACTGGGAA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19043.hp1 NA20129.hp2 HG03130.hp2 NA19043.hp1 NA20129.hp2	a0043 a0062 a0067 a0043 a0062 a0067	a0043c0039 a0062c0042 a0067c0024 a0043c0039 a0062c0042 a0067c0024	a0043c0039t0002 a0062c0042t0001 a0067c0024t0005 a0043c0039t0002 a0062c0042t0001 a0067c0024t0005	a0043c0039t0002g0030 a0062c0042t0001g0031 a0067c0024t0005g0040 a0043c0039t0002g0030 a0062c0042t0001g0031 a0067c0024t0005g0040	3	72	0.0417	-17	c.605 others(36): Show c.6050-4621_6050-4605delTTCCCAGTATTCTTTTT	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	30/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	216120219	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0026 a0026	a0026c0018 a0026c0018	a0026c0018t0003 a0026c0018t0003	a0026c0018t0003g0012 a0026c0018t0003g0012	1	10	0.1000	-17	c.462 others(38): Show c.4628-23023_4628-23007delTTTTTTTTTTTTTTTTT	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	21/71			chr1	TogoVar
USP10_chr16_84695000_84784922	84697692	TATATATA others(10): Show TATATATATATATATATG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 NA19240.hp2 HG01884.hp1 NA19240.hp2	a0001 a0001	a0001c0006 a0001c0007 a0001c0006 a0001c0007	a0001c0006t0001 a0001c0007t0001 a0001c0006t0001 a0001c0007t0001	a0001c0006t0001g0018 a0001c0007t0001g0019 a0001c0006t0001g0018 a0001c0007t0001g0019	2	428	0.0047	-17	c.-23 others(28): Show c.-2398_-2382delATATATATATATATATG	USP10	ENSG00000103194.16	transcript	ENST00000219473.12	protein_coding		2307		chr16	TogoVar
USP13_chr3_179648040_179794401	179718874	AGCCTCCC others(10): Show AGCCTCCCGAGTAGCTGG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02738.hp1 others(1): Show HG01070.hp1 HG01071.hp2 HG02738.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0008 a0001c0002t0008 a0001c0001t0004 a0001c0001t0008 a0001c0002t0008	a0001c0001t0004g0206 a0001c0001t0008g0040 a0001c0002t0008g0164 others(1): Show a0001c0001t0004g0206 a0001c0001t0008g0040 a0001c0002t0008g0164 a0001c0002t0008g0165	4	298	0.0134	-17	c.806 others(34): Show c.806-1064_806-1048delCCTCCCGAGTAGCTGGG	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
USP15_chr12_62255404_62421389	62265949	TTAGTAGC others(10): Show TTAGTAGCAGAATTCTAC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00735.hp2 HG01099.hp2 others(28): Show HG00558.hp1 HG00735.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01891.hp2 HG02572.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02809.hp1 HG02896.hp2 HG02922.hp1 HG02976.hp1 HG03017.hp2 HG03139.hp2 HG03225.hp2 HG03453.hp2 HG03579.hp2 HG03669.hp1 HG04184.hp2 NA18522.hp1 NA18948.hp1 NA18952.hp1 NA18981.hp1 NA19002.hp1 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0006 a0001c0002t0019 others(3): Show a0001c0002t0005 a0001c0002t0006 a0001c0002t0019 a0001c0002t0020 a0001c0002t0025 a0001c0002t0051	a0001c0002t0005g0019 a0001c0002t0005g0021 a0001c0002t0005g0303 others(25): Show a0001c0002t0005g0019 a0001c0002t0005g0021 a0001c0002t0005g0303 a0001c0002t0005g0304 a0001c0002t0005g0305 a0001c0002t0005g0306 a0001c0002t0005g0307 a0001c0002t0005g0308 a0001c0002t0005g0309 a0001c0002t0005g0310 a0001c0002t0005g0311 a0001c0002t0005g0312 a0001c0002t0005g0313 a0001c0002t0006g0314 a0001c0002t0006g0315 a0001c0002t0006g0316 a0001c0002t0006g0317 a0001c0002t0006g0318 a0001c0002t0006g0319 a0001c0002t0006g0320 a0001c0002t0006g0321 a0001c0002t0006g0322 a0001c0002t0006g0323 a0001c0002t0019g0092 a0001c0002t0019g0093 a0001c0002t0020g0020 a0001c0002t0025g0091 a0001c0002t0051g0324	31	346	0.0896	-17	c.89+ others(32): Show c.89+5447_89+5463delTAGTAGCAGAATTCTAC	USP15	ENSG00000135655.16	transcript	ENST00000280377.10	protein_coding	1/21			chr12	TogoVar
USP16_chr21_29019668_29059488	29057784	GATATGTA others(10): Show GATATGTATGATATATAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0169 a0001c0003t0001g0169	1	424	0.0024	-17	c.35 others(28): Show c.3598_*3614delATATGTATGATATATAC	USP16	ENSG00000156256.15	transcript	ENST00000399976.7	protein_coding		3297		chr21	TogoVar
USP17L20_chr4_9253124_9264716	9264164	AAGCACCT others(10): Show AAGCACCTTAGACCACTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	234	0.0043	-17	c.44 others(28): Show c.4449_*4465delAGCACCTTAGACCACTG	USP17L20	ENSG00000250745.3	transcript	ENST00000506151.1	protein_coding		4449		chr4	TogoVar
USP17L29_chr4_9348638_9360230	9352338	CACTGAAA others(10): Show CACTGAAACAAGGGCCAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	146	0.0068	-17	c.-12 others(28): Show c.-1299_-1283delACTGAAACAAGGGCCAG	USP17L29	ENSG00000231637.3	transcript	ENST00000511681.1	protein_coding		1299		chr4	TogoVar
USP17L29_chr4_9348638_9360230	9360180	AGGATGAG others(10): Show AGGATGAGCCCGCATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0000 a0007c0016t0001g0000	1	146	0.0068	-17	c.49 others(28): Show c.4951_*4967delGGATGAGCCCGCATATG	USP17L29	ENSG00000231637.3	transcript	ENST00000511681.1	protein_coding		4951		chr4	TogoVar
USP24_chr1_55061359_55220364	55178711	ATAAATAA others(10): Show ATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01175.hp2 HG02109.hp2 others(11): Show HG00738.hp1 HG01175.hp2 HG02109.hp2 HG02145.hp2 HG02486.hp1 HG02622.hp1 HG02809.hp2 HG03098.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp2 NA18906.hp2 NA19043.hp1 NA20129.hp2	a0002 a0010 a0002 a0010	a0002c0005 a0002c0010 a0010c0016 a0002c0005 a0002c0010 a0010c0016	a0002c0005t0001 a0002c0005t0006 a0002c0010t0001 others(1): Show a0002c0005t0001 a0002c0005t0006 a0002c0010t0001 a0010c0016t0014	a0002c0005t0001g0108 a0002c0005t0001g0109 a0002c0005t0001g0110 others(11): Show a0002c0005t0001g0108 a0002c0005t0001g0109 a0002c0005t0001g0110 a0002c0005t0001g0111 a0002c0005t0001g0112 a0002c0005t0001g0115 a0002c0005t0001g0188 a0002c0005t0001g0189 a0002c0005t0006g0087 a0002c0005t0006g0113 a0002c0005t0006g0114 a0002c0010t0001g0058 a0002c0010t0001g0059 a0010c0016t0014g0107	14	196	0.0714	-17	c.325 others(32): Show c.325-596_325-580delATTTATTTATTTATTTA	USP24	ENSG00000162402.15	transcript	ENST00000294383.7	protein_coding	1/67			chr1	TogoVar

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