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
UNC79_chr14_93425939_93712876	93660520	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01081.hp2 HG03834.hp1 others(3): Show HG00323.hp1 HG01081.hp2 HG03834.hp1 NA18906.hp2 NA19030.hp1 NA19060.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0014 a0001c0001 a0002c0003 a0003c0014	a0001c0001t0001 a0002c0003t0001 a0003c0014t0001 a0001c0001t0001 a0002c0003t0001 a0003c0014t0001	a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0043 others(3): Show a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0051 a0002c0003t0001g0107 a0003c0014t0001g0067	6	75	0.0800	8	c.685 others(27): Show c.6858+1296_6858+1303dupATATATAT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	42/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC80_chr2_209766832_210004296	209836088	C C	CATGAATG others(1): Show CATGAATGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(81): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00597.hp2 HG00642.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01358.hp1 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02083.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02293.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG04204.hp2 HG04228.hp1 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18991.hp1 NA18995.hp1 NA19003.hp1 NA19043.hp2 NA19056.hp1 NA19062.hp2 NA19066.hp2 NA19070.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0008 a0013 a0014 a0016	a0001c0001 a0001c0002 a0001c0003 others(27): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0012 a0001c0013 a0001c0016 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0001c0026 a0001c0029 a0001c0040 a0001c0041 a0001c0043 a0001c0045 a0001c0047 a0001c0048 a0002c0025 a0003c0049 a0003c0050 a0008c0054 a0013c0027 a0014c0028 a0016c0044	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0016 a0001c0002t0001 a0001c0002t0011 a0001c0002t0020 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0002 a0001c0005t0007 a0001c0006t0001 a0001c0007t0001 a0001c0007t0003 a0001c0008t0002 a0001c0012t0001 a0001c0013t0002 a0001c0013t0010 a0001c0016t0002 a0001c0021t0015 a0001c0022t0017 a0001c0023t0002 a0001c0024t0001 a0001c0026t0006 a0001c0029t0001 a0001c0040t0002 a0001c0041t0002 a0001c0043t0001 a0001c0045t0001 a0001c0047t0002 a0001c0048t0001 a0002c0025t0001 a0003c0049t0002 a0003c0050t0002 a0008c0054t0002 a0013c0027t0001 a0014c0028t0008 a0016c0044t0001	a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0113 others(81): Show a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0002g0086 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0125 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0003g0155 a0001c0001t0007g0094 a0001c0001t0007g0095 a0001c0001t0016g0098 a0001c0002t0001g0097 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0115 a0001c0002t0001g0118 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0127 a0001c0002t0011g0112 a0001c0002t0020g0134 a0001c0003t0001g0077 a0001c0003t0002g0011 a0001c0003t0002g0012 a0001c0003t0002g0083 a0001c0003t0002g0085 a0001c0003t0006g0020 a0001c0003t0006g0088 a0001c0004t0001g0013 a0001c0004t0001g0014 a0001c0004t0001g0081 a0001c0004t0001g0087 a0001c0004t0001g0138 a0001c0004t0002g0082 a0001c0005t0001g0075 a0001c0005t0001g0108 a0001c0005t0001g0137 a0001c0005t0001g0187 a0001c0005t0002g0079 a0001c0005t0007g0004 a0001c0006t0001g0089 a0001c0006t0001g0090 a0001c0007t0001g0034 a0001c0007t0001g0038 a0001c0007t0003g0022 a0001c0008t0002g0107 a0001c0012t0001g0044 a0001c0012t0001g0076 a0001c0013t0002g0183 a0001c0013t0010g0181 a0001c0016t0002g0015 a0001c0016t0002g0084 a0001c0021t0015g0093 a0001c0022t0017g0180 a0001c0023t0002g0096 a0001c0024t0001g0080 a0001c0026t0006g0033 a0001c0029t0001g0045 a0001c0040t0002g0120 a0001c0041t0002g0135 a0001c0043t0001g0188 a0001c0045t0001g0039 a0001c0047t0002g0003 a0001c0048t0001g0046 a0002c0025t0001g0036 a0003c0049t0002g0131 a0003c0050t0002g0126 a0008c0054t0002g0103 a0013c0027t0001g0032 a0014c0028t0008g0037 a0016c0044t0001g0186	84	176	0.4773	8	c.304 others(27): Show c.3041+1087_3041+1094dupATGAATGA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	18/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209844451	T T	TTTTCTTT others(1): Show TTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01261.hp1 HG01981.hp2 others(5): Show HG01167.hp2 HG01261.hp1 HG01981.hp2 HG02738.hp2 HG04204.hp1 NA18995.hp2 NA19077.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0011 a0001c0008t0004	a0001c0001t0001g0063 a0001c0001t0002g0072 a0001c0001t0004g0157 others(5): Show a0001c0001t0001g0063 a0001c0001t0002g0072 a0001c0001t0004g0157 a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0002t0001g0054 a0001c0002t0011g0068 a0001c0008t0004g0150	8	116	0.0690	8	c.345 others(27): Show c.3454+2026_3454+2033dupTTTCTTTC	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	21/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209866525	C C	CACACACA others(1): Show CACACACAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01192.hp2 HG01358.hp2 others(5): Show HG00544.hp2 HG01192.hp2 HG01358.hp2 HG02040.hp1 HG02293.hp2 NA18979.hp1 NA18995.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0014 a0001c0001 a0001c0002 a0001c0014	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0014t0001	a0001c0001t0002g0060 a0001c0001t0002g0065 a0001c0002t0001g0123 others(5): Show a0001c0001t0002g0060 a0001c0001t0002g0065 a0001c0002t0001g0123 a0001c0002t0002g0052 a0001c0002t0002g0059 a0001c0002t0002g0069 a0001c0002t0003g0166 a0001c0014t0001g0040	8	179	0.0447	8	c.362 others(27): Show c.3628-6226_3628-6225insTACACACA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	22/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209866527	C C	CACACACA others(1): Show CACACACAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02451.hp2 HG02622.hp2 others(4): Show HG01175.hp2 HG02451.hp2 HG02622.hp2 HG02717.hp2 HG02970.hp1 NA18978.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0003t0002 a0001c0003t0006 a0001c0004t0001 a0001c0004t0002	a0001c0001t0001g0066 a0001c0001t0005g0148 a0001c0001t0009g0146 others(4): Show a0001c0001t0001g0066 a0001c0001t0005g0148 a0001c0001t0009g0146 a0001c0003t0002g0083 a0001c0003t0006g0020 a0001c0004t0001g0014 a0001c0004t0002g0082	7	160	0.0438	8	c.362 others(27): Show c.3628-6224_3628-6223insTACACACA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	22/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209903320	A A	ATATGTGT others(1): Show ATATGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02818.hp1 HG02622.hp1 HG02818.hp1	a0011 a0012 a0011 a0012	a0011c0051 a0012c0052 a0011c0051 a0012c0052	a0011c0051t0001 a0012c0052t0003 a0011c0051t0001 a0012c0052t0003	a0011c0051t0001g0182 a0012c0052t0003g0149 a0011c0051t0001g0182 a0012c0052t0003g0149	2	71	0.0282	8	c.458 others(27): Show c.4582-1444_4582-1443insATGTGTGT	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	28/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209931364	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02293.hp1 NA19056.hp1 HG02109.hp2 HG02293.hp1 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0018 a0001c0001 a0001c0002 a0002c0018	a0001c0001t0001 a0001c0002t0001 a0002c0018t0001 a0001c0001t0001 a0001c0002t0001 a0002c0018t0001	a0001c0001t0001g0102 a0001c0002t0001g0115 a0002c0018t0001g0005 a0001c0001t0001g0102 a0001c0002t0001g0115 a0002c0018t0001g0005	3	42	0.0714	8	c.599 others(25): Show c.5994+356_5994+363dupCACACACA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	38/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209938676	G G	GTCTCTCT others(1): Show GTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02735.hp2 HG03239.hp2 others(2): Show HG02258.hp2 HG02735.hp2 HG03239.hp2 HG03486.hp2 NA18991.hp2	a0001 a0004 a0015 a0001 a0004 a0015	a0001c0002 a0001c0014 a0004c0019 others(2): Show a0001c0002 a0001c0014 a0004c0019 a0004c0020 a0015c0039	a0001c0002t0001 a0001c0014t0001 a0004c0019t0001 others(2): Show a0001c0002t0001 a0001c0014t0001 a0004c0019t0001 a0004c0020t0006 a0015c0039t0003	a0001c0002t0001g0029 a0001c0014t0001g0042 a0004c0019t0001g0091 others(2): Show a0001c0002t0001g0029 a0001c0014t0001g0042 a0004c0019t0001g0091 a0004c0020t0006g0092 a0015c0039t0003g0152	5	31	0.1613	8	c.646 others(25): Show c.6466-768_6466-761dupCTCTCTCT	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	42/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209942855	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03139.hp1 NA18906.hp2 HG02145.hp1 HG03139.hp1 NA18906.hp2	a0001 a0001	a0001c0007 a0001c0015 a0001c0007 a0001c0015	a0001c0007t0001 a0001c0015t0001 a0001c0007t0001 a0001c0015t0001	a0001c0007t0001g0038 a0001c0015t0001g0018 a0001c0015t0001g0019 a0001c0007t0001g0038 a0001c0015t0001g0018 a0001c0015t0001g0019	3	37	0.0811	8	c.691 others(25): Show c.6916-504_6916-497dupACACACAC	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	44/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209955692	A A	AATATATA others(1): Show AATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02970.hp2 HG04204.hp1 others(1): Show HG02040.hp1 HG02970.hp2 HG04204.hp1 NA19056.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0025 a0001c0001 a0001c0002 a0002c0025	a0001c0001t0004 a0001c0002t0002 a0002c0025t0001 a0001c0001t0004 a0001c0002t0002 a0002c0025t0001	a0001c0001t0004g0157 a0001c0001t0004g0163 a0001c0002t0002g0069 others(1): Show a0001c0001t0004g0157 a0001c0001t0004g0163 a0001c0002t0002g0069 a0002c0025t0001g0036	4	94	0.0426	8	c.745 others(27): Show c.7457+1462_7457+1469dupTATATATA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	48/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209955738	T T	TATATATA others(1): Show TATATATAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA19003.hp1 NA19077.hp1 HG01433.hp1 NA19003.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0004 a0001c0002t0001 a0001c0003t0002 a0001c0001t0004 a0001c0002t0001 a0001c0003t0002	a0001c0001t0004g0176 a0001c0002t0001g0054 a0001c0003t0002g0085 a0001c0001t0004g0176 a0001c0002t0001g0054 a0001c0003t0002g0085	3	124	0.0242	8	c.745 others(27): Show c.7457+1469_7457+1470insTATATACA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	48/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC93A_chr6_167286315_167321014	167288449	T T	TACACACA others(1): Show TACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG02922.hp1 NA18948.hp2 others(12): Show HG00735.hp1 HG02922.hp1 NA18948.hp2 NA18953.hp1 NA18957.hp1 NA18962.hp1 NA18974.hp2 NA18991.hp1 NA18995.hp2 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19057.hp1 NA19066.hp1 NA19077.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0019	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0006c0005 a0019c0044	a0001c0001t0002 a0002c0002t0002 a0002c0002t0005 others(4): Show a0001c0001t0002 a0002c0002t0002 a0002c0002t0005 a0003c0003t0006 a0006c0005t0006 a0006c0005t0009 a0019c0044t0006	a0001c0001t0002g0038 a0001c0001t0002g0051 a0001c0001t0002g0280 others(10): Show a0001c0001t0002g0038 a0001c0001t0002g0051 a0001c0001t0002g0280 a0002c0002t0002g0220 a0002c0002t0005g0189 a0002c0002t0005g0219 a0002c0002t0005g0275 a0003c0003t0006g0274 a0006c0005t0006g0043 a0006c0005t0006g0252 a0006c0005t0006g0268 a0006c0005t0009g0247 a0019c0044t0006g0099	15	41	0.3659	8	c.-30 others(19): Show c.-3041_-3040insACACACAC	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding		2865		chr6	TogoVar
UNC93B1_chr11_67986100_68009097	67995576	G G	GCCCCCCC others(1): Show GCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG01433.hp2 others(13): Show HG00099.hp2 HG00323.hp2 HG01433.hp2 HG02040.hp1 HG02155.hp1 HG02647.hp2 HG02723.hp2 HG02897.hp2 HG03834.hp2 HG03927.hp2 HG04184.hp2 NA18940.hp2 NA18960.hp2 NA18961.hp1 NA18998.hp1 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0010 a0001c0003 a0002c0010	a0001c0003t0003 a0002c0010t0003 a0001c0003t0003 a0002c0010t0003	a0001c0003t0003g0025 a0001c0003t0003g0027 a0001c0003t0003g0028 others(9): Show a0001c0003t0003g0025 a0001c0003t0003g0027 a0001c0003t0003g0028 a0001c0003t0003g0031 a0001c0003t0003g0067 a0001c0003t0003g0073 a0001c0003t0003g0081 a0001c0003t0003g0086 a0001c0003t0003g0088 a0001c0003t0003g0089 a0001c0003t0003g0091 a0002c0010t0003g0092	16	158	0.1013	8	c.136 others(23): Show c.1363+27_1363+34dupGGGGGGGG	UNC93B1	ENSG00000110057.9	transcript	ENST00000227471.7	protein_coding	9/10			chr11	TogoVar
UNC93B1_chr11_67986100_68009097	68002185	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00597.hp1 others(99): Show HG00423.hp1 HG00438.hp2 HG00597.hp1 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01123.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp2 HG01978.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG04184.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18956.hp2 NA18969.hp2 NA18970.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18998.hp2 NA19002.hp1 NA19054.hp2 NA19056.hp2 NA19067.hp1 NA19077.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0011	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0003t0003 a0003c0011t0001	a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0021 others(43): Show a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0004g0011 a0001c0001t0004g0046 a0001c0001t0004g0141 a0001c0002t0002g0003 a0001c0002t0002g0005 a0001c0002t0002g0012 a0001c0002t0002g0023 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0185 a0001c0003t0003g0032 a0001c0003t0003g0083 a0001c0003t0003g0084 a0001c0003t0003g0085 a0001c0003t0003g0086 a0001c0003t0003g0087 a0001c0003t0003g0088 a0003c0011t0001g0063	102	122	0.8361	8	c.392 others(23): Show c.392+829_392+836dupGTGTGTGT	UNC93B1	ENSG00000110057.9	transcript	ENST00000227471.7	protein_coding	3/10			chr11	TogoVar
UNK_chr17_75779806_75830799	75782993	T T	TTAAAAAA others(1): Show TTAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG01109.hp1 others(4): Show HG00323.hp2 HG00639.hp2 HG01109.hp1 HG01515.hp1 HG03490.hp2 HG03654.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0009 a0001c0002t0001g0033 others(4): Show a0001c0002t0001g0002 a0001c0002t0001g0009 a0001c0002t0001g0033 a0001c0002t0001g0065 a0001c0002t0001g0198 a0001c0002t0001g0202 a0001c0002t0001g0205	7	135	0.0519	8	c.-18 others(19): Show c.-1888_-1887insTAAAAAAA	UNK	ENSG00000132478.10	transcript	ENST00000589666.6	protein_coding		1812		chr17	TogoVar
UNK_chr17_75779806_75830799	75805810	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG00639.hp2 others(49): Show HG00438.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG02015.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02129.hp2 HG02145.hp1 HG02165.hp1 HG02258.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02922.hp1 HG02976.hp1 HG03195.hp1 HG03490.hp2 HG03492.hp2 HG03669.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18942.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18973.hp2 NA18977.hp2 NA18982.hp2 NA18984.hp2 NA18990.hp1 NA18991.hp2 NA18997.hp1 NA19004.hp2 NA19011.hp1 NA19055.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19081.hp1 NA19084.hp2 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0002c0016	a0001c0001t0001 a0001c0001t0013 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0013 a0001c0002t0001 a0001c0002t0006 a0001c0003t0002 a0001c0003t0007 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0005t0017 a0001c0007t0002 a0002c0016t0016	a0001c0001t0001g0063 a0001c0001t0001g0167 a0001c0001t0013g0093 others(44): Show a0001c0001t0001g0063 a0001c0001t0001g0167 a0001c0001t0013g0093 a0001c0002t0001g0009 a0001c0002t0001g0198 a0001c0002t0006g0043 a0001c0002t0006g0045 a0001c0002t0006g0047 a0001c0002t0006g0174 a0001c0002t0006g0175 a0001c0003t0002g0004 a0001c0003t0002g0010 a0001c0003t0002g0011 a0001c0003t0002g0083 a0001c0003t0002g0095 a0001c0003t0002g0098 a0001c0003t0002g0101 a0001c0003t0002g0107 a0001c0003t0002g0214 a0001c0003t0002g0223 a0001c0003t0002g0230 a0001c0003t0002g0234 a0001c0003t0002g0240 a0001c0003t0002g0241 a0001c0003t0002g0242 a0001c0003t0002g0243 a0001c0003t0002g0250 a0001c0003t0002g0251 a0001c0003t0002g0253 a0001c0003t0002g0254 a0001c0003t0002g0259 a0001c0003t0002g0261 a0001c0003t0002g0264 a0001c0003t0007g0091 a0001c0004t0001g0217 a0001c0004t0003g0322 a0001c0005t0001g0105 a0001c0005t0001g0231 a0001c0005t0001g0245 a0001c0005t0001g0248 a0001c0005t0001g0252 a0001c0005t0017g0106 a0001c0007t0002g0084 a0001c0007t0002g0226 a0001c0007t0002g0227 a0001c0007t0002g0228 a0002c0016t0016g0099	52	147	0.3537	8	c.105 others(25): Show c.105-3922_105-3915dupGTGTGTGT	UNK	ENSG00000132478.10	transcript	ENST00000589666.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr17	TogoVar
UPB1_chr22_24490332_24533390	24496372	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA19005.hp2 NA19084.hp1 HG00438.hp2 NA19005.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0004g0261 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0004g0261	3	253	0.0119	8	c.104 others(23): Show c.104+889_104+896dupCACACACA	UPB1	ENSG00000100024.15	transcript	ENST00000326010.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
UPF1_chr19_18826959_18873230	18829271	C C	CATATATA others(1): Show CATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG02738.hp2 HG03834.hp2 others(1): Show HG00280.hp2 HG02738.hp2 HG03834.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0039 a0001c0001t0001g0042 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0046	4	89	0.0449	8	c.-29 others(19): Show c.-2939_-2938insATATATAT	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding		2687		chr19	TogoVar
UPF1_chr19_18826959_18873230	18829293	T T	TATATATA others(1): Show TATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG03041.hp1 others(2): Show HG02258.hp1 HG02258.hp2 HG03041.hp1 HG03098.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0011 a0001c0001t0003g0026 a0001c0001t0003g0036 others(1): Show a0001c0001t0001g0011 a0001c0001t0003g0026 a0001c0001t0003g0036 a0001c0001t0003g0184	5	370	0.0135	8	c.-29 others(19): Show c.-2917_-2916insATATATAC	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding		2665		chr19	TogoVar
UPF1_chr19_18826959_18873230	18829609	A A	ATATATAT others(1): Show ATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18952.hp2 NA18975.hp2 others(2): Show NA18939.hp2 NA18952.hp2 NA18975.hp2 NA18982.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0205 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0205	5	390	0.0128	8	c.-26 others(19): Show c.-2601_-2600insTATATATG	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding		2349		chr19	TogoVar
UPF1_chr19_18826959_18873230	18843717	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02896.hp1 HG02897.hp2 others(2): Show HG01099.hp2 HG02896.hp1 HG02897.hp2 HG03041.hp2 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0011 a0001c0001 a0002c0011	a0001c0001t0003 a0002c0011t0001 a0001c0001t0003 a0002c0011t0001	a0001c0001t0003g0026 a0001c0001t0003g0096 a0001c0001t0003g0097 others(1): Show a0001c0001t0003g0026 a0001c0001t0003g0096 a0001c0001t0003g0097 a0002c0011t0001g0130	5	247	0.0202	8	c.232 others(25): Show c.232-2235_232-2228dupGTGTGTGT	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr19	TogoVar
UPF2_chr10_11915022_12047809	11938853	G G	GTTTTTTT others(1): Show GTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02976.hp1 HG03195.hp1 others(3): Show HG00544.hp1 HG02976.hp1 HG03195.hp1 NA18948.hp2 NA18977.hp1 NA18997.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0236 others(3): Show a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0236 a0001c0002t0001g0254 a0001c0002t0001g0312 a0001c0002t0001g0314	6	68	0.0882	8	c.337 others(27): Show c.3379-2149_3379-2142dupAAAAAAAA	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	18/21			chr10	TogoVar
UPF2_chr10_11915022_12047809	11994975	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01081.hp2 HG01358.hp2 others(13): Show HG00423.hp2 HG01081.hp2 HG01358.hp2 HG01993.hp2 HG02027.hp2 HG02300.hp2 NA18942.hp1 NA18945.hp2 NA18955.hp2 NA18977.hp2 NA18982.hp2 NA18983.hp2 NA19002.hp2 NA19009.hp2 NA19070.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0023 a0001c0001t0002g0040 others(13): Show a0001c0001t0002g0018 a0001c0001t0002g0023 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0139 a0001c0001t0002g0140	16	128	0.1250	8	c.184 others(27): Show c.1844+2689_1844+2696dupTTTTTTTT	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	8/21			chr10	TogoVar
UPF2_chr10_11915022_12047809	12025548	C C	CTAAATAA others(1): Show CTAAATAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00438.hp2 others(86): Show HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00642.hp1 HG00673.hp1 HG01070.hp2 HG01081.hp1 HG01192.hp1 HG01255.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01928.hp1 HG01943.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02451.hp2 HG02486.hp2 HG02647.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03490.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18941.hp2 NA18947.hp2 NA18948.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18961.hp2 NA18964.hp2 NA18965.hp1 NA18968.hp1 NA18971.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18989.hp2 NA18990.hp2 NA18995.hp1 NA18997.hp1 NA18998.hp2 NA19003.hp1 NA19004.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp2 NA19086.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0010 a0004c0011	a0001c0001t0002 a0001c0001t0016 a0001c0002t0001 others(4): Show a0001c0001t0002 a0001c0001t0016 a0001c0002t0001 a0001c0002t0009 a0001c0006t0013 a0001c0010t0001 a0004c0011t0001	a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0016g0333 others(86): Show a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0016g0333 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0240 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0268 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0311 a0001c0002t0001g0313 a0001c0002t0001g0314 a0001c0002t0001g0316 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0009g0278 a0001c0006t0013g0331 a0001c0010t0001g0239 a0004c0011t0001g0310	89	284	0.3134	8	c.114 others(27): Show c.1145+3189_1145+3196dupTTTATTTA	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	3/21			chr10	TogoVar
UPF2_chr10_11915022_12047809	12038378	T T	TCACTCAC others(1): Show TCACTCACA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02809.hp1 HG03831.hp2 others(6): Show HG02602.hp1 HG02809.hp1 HG03831.hp2 HG04204.hp2 NA18966.hp1 NA18975.hp1 NA18994.hp1 NA19084.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0009 a0001c0001t0001g0101 a0001c0001t0001g0102 others(6): Show a0001c0001t0001g0009 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0006g0024 a0001c0001t0006g0103 a0001c0001t0006g0105 a0001c0001t0006g0107	9	142	0.0634	8	c.-18 others(25): Show c.-18-2938_-18-2937insTGTGAGTG	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	1/21			chr10	TogoVar
UPF2_chr10_11915022_12047809	12046823	A A	AAAATAAA others(1): Show AAAATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02257.hp2 HG02486.hp1 others(2): Show HG01884.hp1 HG02257.hp2 HG02486.hp1 HG02809.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0009t0001g0005	5	326	0.0153	8	c.-40 others(19): Show c.-4088_-4087insATTTATTT	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding		4015		chr10	TogoVar
UPF3B_chrX_119829022_119857963	119842605	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(122): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG01255.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01516.hp1 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02615.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp1 HG02965.hp1 HG03130.hp1 HG03490.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp1 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18990.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19006.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19076.hp1 NA19078.hp1 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA19240.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(69): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0133 a0001c0001t0001g0141 a0001c0001t0003g0027	125	201	0.6219	8	c.580 others(23): Show c.580+578_580+585dupGTGTGTGT	UPF3B	ENSG00000125351.14	transcript	ENST00000276201.7	protein_coding	5/10			chrX	TogoVar
UPF3B_chrX_119829022_119857963	119851748	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG01081.hp1 others(11): Show HG00140.hp1 HG00558.hp1 HG01081.hp1 HG01168.hp2 HG01169.hp2 HG02451.hp1 HG02970.hp2 HG03486.hp1 HG03710.hp1 NA18977.hp1 NA18993.hp1 NA19007.hp1 NA19075.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0037 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0037 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165	14	16	0.8750	8	c.263 others(21): Show c.263+11_263+18dupAAAAAAAA	UPF3B	ENSG00000125351.14	transcript	ENST00000276201.7	protein_coding	2/10			chrX	TogoVar
UPK1A_chr19_35661517_35683481	35670674	T T	TTCCCTCC others(1): Show TTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02630.hp1 NA20129.hp2 HG02258.hp2 HG02630.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0200 a0001c0001t0001g0053 a0001c0001t0001g0200	3	325	0.0092	8	c.285 others(25): Show c.285+2042_285+2049dupCCCTCCCT	UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
UPK1A_chr19_35661517_35683481	35676171	T T	TTTTCTTT others(1): Show TTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02976.hp2 NA18944.hp2 HG02886.hp2 HG02976.hp2 NA18944.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0009 a0003c0005 a0001c0001 a0001c0009 a0003c0005	a0001c0001t0001 a0001c0009t0001 a0003c0005t0002 a0001c0001t0001 a0001c0009t0001 a0003c0005t0002	a0001c0001t0001g0144 a0001c0009t0001g0068 a0003c0005t0002g0157 a0001c0001t0001g0144 a0001c0009t0001g0068 a0003c0005t0002g0157	3	343	0.0087	8	c.648 others(23): Show c.648+172_648+179dupCTTTCTTT	UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
UPK1A_chr19_35661517_35683481	35682244	A A	AATATATA others(1): Show AATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01433.hp2 HG01943.hp2 others(13): Show HG00733.hp2 HG01433.hp2 HG01943.hp2 HG01952.hp1 HG02965.hp1 HG03139.hp2 HG03540.hp1 HG03704.hp2 NA18961.hp2 NA18985.hp2 NA18998.hp2 NA19004.hp1 NA19043.hp2 NA19058.hp1 NA19074.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0045 others(9): Show a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0045 a0001c0001t0001g0092 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066	16	176	0.0909	8	c.42 others(19): Show c.4225_*4226insATATATAT	UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding		3764		chr19	TogoVar
UPK1B_chr3_119168598_119210143	119179352	G G	GATATATA others(1): Show GATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01074.hp1 HG01258.hp2 others(12): Show HG00733.hp1 HG01074.hp1 HG01258.hp2 HG01981.hp1 HG02970.hp1 NA18942.hp2 NA18943.hp2 NA18959.hp2 NA18963.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA19043.hp2 NA19057.hp2 NA19079.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0003c0003t0004	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0018 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0129 a0001c0001t0001g0157 a0001c0001t0001g0304 a0001c0001t0002g0132 a0001c0001t0002g0334 a0001c0001t0002g0335 a0002c0002t0002g0348 a0003c0003t0004g0364	15	220	0.0682	8	c.-29 others(25): Show c.-29+5753_-29+5760dupATATATAT	UPK1B	ENSG00000114638.8	transcript	ENST00000264234.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
UPK1B_chr3_119168598_119210143	119179507	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG00673.hp2 others(51): Show HG00408.hp1 HG00639.hp2 HG00673.hp2 HG01070.hp1 HG01081.hp1 HG01243.hp1 HG01255.hp2 HG01261.hp2 HG01433.hp2 HG01515.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02293.hp1 HG02886.hp2 HG02970.hp2 HG03831.hp2 HG06807.hp2 NA18612.hp1 NA18944.hp1 NA18948.hp2 NA18952.hp1 NA18955.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18971.hp1 NA18980.hp1 NA18982.hp1 NA18985.hp1 NA18987.hp2 NA18989.hp2 NA18993.hp1 NA18995.hp2 NA19003.hp2 NA19012.hp1 NA19030.hp2 NA19060.hp1 NA19063.hp1 NA19070.hp1 NA19072.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19087.hp1 NA19088.hp2 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0003c0003t0003	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0035 others(44): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0292 a0001c0001t0002g0153 a0001c0001t0002g0244 a0001c0001t0002g0274 a0001c0001t0003g0206 a0002c0002t0001g0002 a0002c0002t0001g0241 a0002c0002t0001g0243 a0002c0002t0001g0249 a0003c0003t0003g0026 a0003c0003t0003g0259 a0003c0003t0003g0268 a0003c0003t0003g0270 a0003c0003t0003g0277 a0003c0003t0003g0280 a0003c0003t0003g0293	54	165	0.3273	8	c.-29 others(25): Show c.-29+5882_-29+5889dupTTTTTTTT	UPK1B	ENSG00000114638.8	transcript	ENST00000264234.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
UPK2_chr11_118951298_118963559	118960535	G G	GGTTTGTT others(1): Show GGTTTGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02572.hp1 HG02895.hp2 HG02486.hp2 HG02572.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	3	377	0.0080	8	c.23 others(19): Show c.2302_*2303insGTTTGTTT	UPK2	ENSG00000110375.3	transcript	ENST00000264031.3	protein_coding		1977		chr11	TogoVar
UPK3A_chr22_45279949_45300874	45282183	T T	TAGAAAGA others(1): Show TAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01993.hp2 HG03491.hp1 HG00621.hp1 HG01993.hp2 HG03491.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0005 a0002c0008 a0001c0003 a0001c0005 a0002c0008	a0001c0003t0001 a0001c0005t0001 a0002c0008t0001 a0001c0003t0001 a0001c0005t0001 a0002c0008t0001	a0001c0003t0001g0082 a0001c0005t0001g0069 a0002c0008t0001g0143 a0001c0003t0001g0082 a0001c0005t0001g0069 a0002c0008t0001g0143	3	236	0.0127	8	c.-28 others(19): Show c.-2831_-2830insAGAAAGAA	UPK3A	ENSG00000100373.10	transcript	ENST00000216211.9	protein_coding		2765		chr22	TogoVar
UPK3BL1_chr7_102632025_102647791	102646920	A A	AGAGAAAG others(1): Show AGAGAAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 NA18986.hp1 HG01891.hp1 NA18986.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0005 a0006c0011t0019 a0001c0001t0005 a0006c0011t0019	a0001c0001t0005g0064 a0006c0011t0019g0045 a0001c0001t0005g0064 a0006c0011t0019g0045	2	112	0.0179	8	c.-41 others(19): Show c.-4180_-4179insCCTTTCTC	UPK3BL1	ENSG00000267368.1	transcript	ENST00000340457.8	protein_coding		4130		chr7	TogoVar
UPK3BL1_chr7_102632025_102647791	102646923	G G	GGAAAGAA others(1): Show GGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01069.hp1 HG01175.hp2 others(12): Show HG00673.hp1 HG01069.hp1 HG01175.hp2 HG01255.hp1 HG01358.hp2 HG01517.hp1 HG01891.hp2 HG02523.hp1 NA18946.hp1 NA18962.hp1 NA18968.hp2 NA18997.hp2 NA19002.hp2 NA19004.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0002c0002t0002	a0001c0001t0001g0020 a0001c0001t0001g0072 a0001c0001t0001g0074 others(8): Show a0001c0001t0001g0020 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0004g0013 a0001c0001t0007g0002 a0001c0001t0012g0038 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0027	15	65	0.2308	8	c.-41 others(19): Show c.-4183_-4182insTTTCTTTC	UPK3BL1	ENSG00000267368.1	transcript	ENST00000340457.8	protein_coding		4133		chr7	TogoVar
UPK3BL1_chr7_102632025_102647791	102647004	C C	CTTTTTTT others(1): Show CTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp2 HG01255.hp1 others(12): Show HG00673.hp1 HG00673.hp2 HG01255.hp1 HG02015.hp2 HG02080.hp1 HG02523.hp1 HG02922.hp1 NA18946.hp1 NA18946.hp2 NA18966.hp2 NA18982.hp2 NA18987.hp2 NA19002.hp2 NA19004.hp1 NA19060.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0003c0004t0009	a0001c0001t0001g0015 a0001c0001t0001g0072 a0001c0001t0001g0073 others(10): Show a0001c0001t0001g0015 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0003g0040 a0001c0001t0004g0013 a0001c0001t0007g0002 a0001c0001t0012g0038 a0003c0004t0009g0078 a0003c0004t0009g0080	15	62	0.2419	8	c.-42 others(19): Show c.-4264_-4263insAAAAAAAA	UPK3BL1	ENSG00000267368.1	transcript	ENST00000340457.8	protein_coding		4214		chr7	TogoVar
UPK3BL2_chr7_102532919_102548696	102547832	G G	GGAAAGAA others(1): Show GGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02257.hp1 HG02723.hp2 others(2): Show HG02145.hp2 HG02257.hp1 HG02723.hp2 NA18947.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0004g0011 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0004g0011	5	34	0.1471	8	c.-41 others(19): Show c.-4197_-4196insTTTCTTTC	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding		4137		chr7	TogoVar
UPP2_chr2_158096876_158141154	158104436	A A	AAAATACT others(1): Show AAAATACTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00621.hp2 others(47): Show HG00544.hp1 HG00558.hp2 HG00621.hp2 HG00733.hp1 HG00738.hp1 HG01081.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG02056.hp1 HG02165.hp2 HG02257.hp1 HG02451.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02723.hp2 HG02922.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp2 NA18612.hp1 NA18939.hp2 NA18943.hp1 NA18946.hp2 NA18948.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18964.hp1 NA18971.hp1 NA18980.hp1 NA18986.hp1 NA18987.hp1 NA19003.hp1 NA19007.hp2 NA19011.hp2 NA19059.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19080.hp2 NA19090.hp2 NA21309.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0002c0008 a0005c0007 a0002c0002 a0002c0008 a0005c0007	a0002c0002t0003 a0002c0002t0004 a0002c0002t0010 others(3): Show a0002c0002t0003 a0002c0002t0004 a0002c0002t0010 a0002c0002t0014 a0002c0008t0013 a0005c0007t0003	a0002c0002t0003g0002 a0002c0002t0003g0005 a0002c0002t0003g0006 others(20): Show a0002c0002t0003g0002 a0002c0002t0003g0005 a0002c0002t0003g0006 a0002c0002t0003g0014 a0002c0002t0003g0015 a0002c0002t0003g0052 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0062 a0002c0002t0003g0063 a0002c0002t0003g0064 a0002c0002t0004g0009 a0002c0002t0004g0012 a0002c0002t0004g0048 a0002c0002t0004g0049 a0002c0002t0004g0050 a0002c0002t0004g0051 a0002c0002t0004g0061 a0002c0002t0004g0066 a0002c0002t0010g0060 a0002c0002t0014g0065 a0002c0008t0013g0047 a0005c0007t0003g0005	50	340	0.1471	8	c.63- others(23): Show c.63-1659_63-1652dupTACTTAAA	UPP2	ENSG00000007001.13	transcript	ENST00000005756.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
UPP2_chr2_158096876_158141154	158108887	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02970.hp2 HG03710.hp1 others(2): Show HG02615.hp2 HG02970.hp2 HG03710.hp1 NA18955.hp1 NA18968.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0002c0002t0003	a0001c0001t0001g0125 a0001c0001t0001g0213 a0001c0001t0002g0081 others(2): Show a0001c0001t0001g0125 a0001c0001t0001g0213 a0001c0001t0002g0081 a0001c0001t0008g0191 a0002c0002t0003g0059	5	139	0.0360	8	c.180 others(25): Show c.180+2710_180+2717dupGTGTGTGT	UPP2	ENSG00000007001.13	transcript	ENST00000005756.5	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
UPRT_chrX_75269085_75309885	75272319	T T	TATATATA others(1): Show TATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(193): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18952.hp1 NA18953.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18974.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19076.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(93): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0002g0089 a0001c0001t0005g0002 a0001c0001t0005g0018 a0001c0001t0005g0068 a0001c0001t0005g0079 a0001c0001t0005g0087 a0001c0001t0006g0005 a0001c0001t0007g0076	196	227	0.8634	8	c.-19 others(19): Show c.-1936_-1935insATATATAC	UPRT	ENSG00000094841.14	transcript	ENST00000373383.9	protein_coding		1765		chrX	TogoVar
UQCC1_chr20_35297578_35416973	35338913	A A	ATATATAT others(1): Show ATATATATG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03139.hp2 NA18906.hp2 others(1): Show HG02622.hp1 HG03139.hp2 NA18906.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0158 a0001c0001t0001g0175 a0001c0001t0001g0216 others(1): Show a0001c0001t0001g0158 a0001c0001t0001g0175 a0001c0001t0001g0216 a0001c0001t0002g0123	4	112	0.0357	8	c.573 others(25): Show c.573+8250_573+8251insCATATATA	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35349992	C C	CAACAAAC others(1): Show CAACAAACA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp1 HG02486.hp1 others(7): Show HG00738.hp2 HG01167.hp1 HG02486.hp1 HG02559.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG03098.hp1 NA19043.hp2 NA19240.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0003 a0002c0002t0004 a0003c0003t0002 others(1): Show a0002c0002t0003 a0002c0002t0004 a0003c0003t0002 a0003c0003t0004	a0002c0002t0003g0033 a0002c0002t0003g0034 a0002c0002t0003g0036 others(7): Show a0002c0002t0003g0033 a0002c0002t0003g0034 a0002c0002t0003g0036 a0002c0002t0003g0042 a0002c0002t0003g0098 a0002c0002t0004g0038 a0003c0003t0002g0004 a0003c0003t0002g0005 a0003c0003t0002g0006 a0003c0003t0004g0003	10	165	0.0606	8	c.465 others(25): Show c.465-2728_465-2721dupTGTTTGTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	6/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35415259	C C	CTTTTTTT others(1): Show CTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01109.hp2 HG01261.hp2 others(16): Show HG00642.hp1 HG01109.hp2 HG01261.hp2 HG01891.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp1 HG02723.hp2 HG02895.hp2 HG02896.hp2 HG02976.hp2 HG03225.hp1 HG03927.hp1 HG04115.hp1 NA18956.hp2 NA18967.hp2 NA18979.hp1 NA19067.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 others(16): Show a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0188 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244	19	24	0.7917	8	c.-32 others(19): Show c.-3297_-3296insAAAAAAAA	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding		3287		chr20	TogoVar
UQCC2_chr6_33691764_33716700	33714877	C C	CTCATTCA others(1): Show CTCATTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18951.hp1 NA19000.hp2 others(2): Show NA18747.hp1 NA18951.hp1 NA19000.hp2 NA19062.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0002 a0001c0001t0001g0009	5	339	0.0147	8	c.-31 others(19): Show c.-3192_-3191insATGAATGA	UQCC2	ENSG00000137288.10	transcript	ENST00000607484.6	protein_coding		3178		chr6	TogoVar
UQCC6_chr12_103945194_103962215	103948029	A A	AGGCTTAT others(1): Show AGGCTTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG03041.hp1 HG03098.hp1 others(1): Show HG02055.hp1 HG03041.hp1 HG03098.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0016 a0001c0001t0009g0016	4	460	0.0087	8	c.34 others(19): Show c.3486_*3493dupCATAAGCC	UQCC6	ENSG00000204954.10	transcript	ENST00000378090.9	protein_coding		2164		chr12	TogoVar
UQCR11_chr19_1592169_1610462	1601599	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01358.hp1 HG02056.hp1 others(3): Show HG00544.hp1 HG01358.hp1 HG02056.hp1 HG02486.hp2 HG02559.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0102 others(3): Show a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0102 a0001c0001t0003g0040 a0001c0001t0003g0077 a0001c0001t0004g0091	6	230	0.0261	8	c.51- others(23): Show c.51-2047_51-2040dupTTTTTTTT	UQCR11	ENSG00000127540.12	transcript	ENST00000591899.8	protein_coding	1/2			chr19	TogoVar
UQCRB_chr8_96217947_96240545	96222794	T T	TCATACAC others(1): Show TCATACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01109.hp1 HG02258.hp2 others(5): Show HG00642.hp2 HG01109.hp1 HG02258.hp2 HG02698.hp1 HG02922.hp1 HG02922.hp2 HG03139.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0014 a0001c0001t0002 a0001c0001t0008 a0001c0001t0014	a0001c0001t0002g0002 a0001c0001t0002g0066 a0001c0001t0008g0008 others(1): Show a0001c0001t0002g0002 a0001c0001t0002g0066 a0001c0001t0008g0008 a0001c0001t0014g0014	8	156	0.0513	8	c.82 others(19): Show c.8260_*8261insTGTGTATG	UQCRB	ENSG00000156467.10	transcript	ENST00000287022.10	protein_coding		152		chr8	TogoVar
UQCRC2_chr16_21948361_21988660	21961626	T T	TTATATAT others(1): Show TTATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01081.hp1 HG01106.hp2 others(14): Show HG00642.hp1 HG01081.hp1 HG01106.hp2 HG01258.hp2 HG02523.hp2 HG02647.hp1 HG02735.hp1 HG04184.hp1 NA18906.hp1 NA18941.hp2 NA18957.hp1 NA19010.hp2 NA19054.hp2 NA19060.hp1 NA19077.hp2 NA19085.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0070 a0001c0001t0001g0084 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0070 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0002t0001g0002 a0001c0002t0001g0014 a0001c0002t0001g0019 a0001c0002t0001g0041 a0001c0002t0001g0144 a0001c0002t0001g0161	17	34	0.5000	8	c.333 others(23): Show c.333-798_333-791dupATATATAT	UQCRC2	ENSG00000140740.11	transcript	ENST00000268379.9	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar

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