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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DOCK1_chr10_126900428_127457516	126963640	C C	CTTCCCTT others(41): Show CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0069 a0001c0069	a0001c0069t0008 a0001c0069t0008	a0001c0069t0008g0112 a0001c0069t0008g0112	1	68	0.0147	48	c.47- others(63): Show c.47-7061_47-7060insTCCCTTCCCTTCCCTTCCCTTCCCTTCCCT TCCCTCCCCTCCTTCCTT		DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51					INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	127093202	C C	CTTTCTTT others(41): Show CTTTCTTTCTTTCTTTCTTTCTTTGTTTCTTTCTTTCTTTCTTTCTTTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02886.hp2 HG02572.hp2 HG02886.hp2	a0001 a0008 a0001 a0008	a0001c0075 a0008c0057 a0001c0075 a0008c0057	a0001c0075t0007 a0008c0057t0002 a0001c0075t0007 a0008c0057t0002	a0001c0075t0007g0121 a0008c0057t0002g0126 a0001c0075t0007g0121 a0008c0057t0002g0126	2	110	0.0182	48	c.244 others(69): Show c.2446-13010_2446-13009insCTTTGTTTCTTTCTTTCTTTCTTT CTTTGTTTCTTTCTTTCTTTCTTT		DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	23/51					INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	127129249	G G	GATTTTCC others(41): Show GATTTTCCTTTTTAAAGTGTTTAAACTTAAAGTTTAAACTTAAACTCAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0056 a0001c0004t0002g0056	1	134	0.0075	48	c.284 others(67): Show c.2847+1530_2847+1577dupTCACATTTTCCTTTTTAAAGTGTTTA AACTTAAAGTTTAAACTTAAAC		DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	27/51					INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	127347829	T T	TCCCCTCC others(41): Show TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0007 a0001c0033t0007	a0001c0033t0007g0087 a0001c0033t0007g0087	1	129	0.0078	48	c.322 others(67): Show c.3224+4084_3224+4085insCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCC		DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	31/51					INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	127428974	A A	ATGTGGAT others(41): Show ATGTGGATTGTGCCGTGTGGATTCGGGTACCATGTGGATTGGGGTGCCG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0007 a0001c0033t0007	a0001c0033t0007g0087 a0001c0033t0007g0087	1	51	0.0196	48	c.491 others(67): Show c.4914+2972_4914+2973insTGCCGTGTGGATTCGGGTACCATGTG GATTGGGGTGCCGTGTGGATTG		DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	47/51					INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK3_chr3_50669927_51389198	50886208	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01993.hp2 HG00140.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0008 a0001c0001t0001g0014	2	186	0.0108	48	c.163 others(65): Show c.163-3817_163-3816insATATATATATATATATATATATATATAT ATATATATATATATATATGT		DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	3/52					INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK7_chr1_62449726_62693386	62689185	T T	TATATATA others(41): Show TATATATATATATACATATATATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	226	0.0044	48	c.-92 others(57): Show c.-922_-921insGTATATATATATATATATATATATATATATATATGT ATATATATATAT		DOCK7	ENSG00000116641.18	transcript	ENST00000635253.2	protein_coding					800		chr1	TogoVar
DOCK8_chr9_209865_470255	400100	C C	CCACCTCC others(41): Show CCACCTCCACCATCACCACCTCCTCCATCACCACCACCATCTTCACCAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0024 a0024	a0024c0147 a0024c0147	a0024c0147t0002 a0024c0147t0002	a0024c0147t0002g0178 a0024c0147t0002g0178	1	254	0.0039	48	c.323 others(65): Show c.3234+845_3234+846insTCCACCATCACCACCTCCTCCATCACCA CCACCATCTTCACCATCACC		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400157	C C	CCACCTCC others(41): Show CCACCTCCACCACCACCACCACCTCCACCACCACCACCACCTCCACCAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02976.hp1 NA19240.hp1 HG00639.hp2 HG02976.hp1 NA19240.hp1	a0001 a0015 a0028 a0001 a0015 a0028	a0001c0032 a0015c0033 a0028c0151 a0001c0032 a0015c0033 a0028c0151	a0001c0032t0004 a0015c0033t0004 a0028c0151t0003 a0001c0032t0004 a0015c0033t0004 a0028c0151t0003	a0001c0032t0004g0125 a0015c0033t0004g0128 a0028c0151t0003g0174 a0001c0032t0004g0125 a0015c0033t0004g0128 a0028c0151t0003g0174	3	192	0.0156	48	c.323 others(65): Show c.3234+902_3234+903insTCCACCACCACCACCACCTCCACCACCA CCACCACCTCCACCATCACC		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400620	C C	CCACCACC others(41): Show CCACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0161 a0003c0004t0001g0161	1	198	0.0051	48	c.323 others(67): Show c.3234+1366_3234+1367insCCTCCACCACCAGCACTTCCACCATC ACCACCTCCTTCACCATCACCA		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DOK5_chr20_54470593_54656169	54534819	G G	GTTTCTTT others(41): Show GTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	55	0.0182	48	c.67- others(65): Show c.67-20083_67-20082insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT		DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr20	TogoVar
DOK6_chr18_69395888_69854087	69612399	T T	TTGTGTGC others(41): Show TTGTGTGCGAGGGCGCATGTGTGCGAGGGCGCATGTGTGCGAGGGCGCA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01943.hp1 HG02630.hp1 others(3): Show HG00738.hp1 HG01943.hp1 HG02630.hp1 HG03017.hp1 HG03688.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0063 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0063 a0001c0001t0077 a0001c0002t0010 a0001c0002t0096	a0001c0001t0001g0048 a0001c0001t0007g0154 a0001c0001t0063g0036 others(3): Show a0001c0001t0001g0048 a0001c0001t0007g0154 a0001c0001t0063g0036 a0001c0001t0077g0170 a0001c0002t0010g0066 a0001c0002t0096g0087	6	70	0.0857	48	c.289 others(67): Show c.289+12912_289+12959dupGGCGCATGTGTGCGAGGGCGCATGTG TGCGAGGGCGCATGTGTGCGAG		DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69617725	A A	AAGAAAGA others(41): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0069 a0001c0001t0013g0069	1	90	0.0111	48	c.289 others(67): Show c.289+18228_289+18229insGAAAGAAAGAAAGAAAGAAAGAAAGA GAAAGAAAGAAAGAAAGAAAGA		DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK7_chr4_3458306_3499482	3490110	C C	CCATTCAT others(41): Show CCATTCATTCCTTTCTTCACCCCCTCATTCATTCCTTTCTTCACCCCCT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0222 a0003c0003t0004g0222	1	234	0.0043	48	c.772 others(63): Show c.772+327_772+328insCTTCACCCCCTCATTCATTCCTTTCTTCAC CCCCTCATTCATTCCTTT		DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr4	TogoVar
DOK7_chr4_3458306_3499482	3490110	C C	CCTCATTC others(41): Show CCTCATTCATTCCTTTCTTCACCCCCATTCATTCCTTTCTTCACCCCCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG01070.hp2 others(7): Show HG00642.hp1 HG00733.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp2 HG01123.hp1 HG01928.hp1 HG01943.hp2 HG01978.hp2 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0023 a0001c0001t0003 a0001c0001t0023	a0001c0001t0003g0006 a0001c0001t0003g0030 a0001c0001t0003g0197 others(4): Show a0001c0001t0003g0006 a0001c0001t0003g0030 a0001c0001t0003g0197 a0001c0001t0003g0267 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0023g0322	10	243	0.0412	48	c.772 others(63): Show c.772+315_772+316insTCATTCATTCCTTTCTTCACCCCCATTCAT TCCTTTCTTCACCCCCTC		DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr4	TogoVar
DOK7_chr4_3458306_3499482	3490111	C C	CTCATTCA others(41): Show CTCATTCATTCCTTTCTTCACCCCCATTCATTCCTTTCTTCACCCCCTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp1 others(78): Show HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp2 HG00738.hp1 HG01069.hp1 HG01257.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG03017.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18983.hp2 NA18991.hp2 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp1 NA19012.hp2 NA19056.hp1 NA19056.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19070.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0014 a0015 a0023	a0001c0001 a0002c0002 a0002c0027 others(4): Show a0001c0001 a0002c0002 a0002c0027 a0007c0010 a0014c0028 a0015c0019 a0023c0030	a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 others(8): Show a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0009 a0002c0002t0027 a0002c0002t0036 a0002c0027t0001 a0007c0010t0001 a0014c0028t0001 a0015c0019t0004 a0023c0030t0001	a0001c0001t0002g0070 a0001c0001t0002g0077 a0001c0001t0002g0143 others(69): Show a0001c0001t0002g0070 a0001c0001t0002g0077 a0001c0001t0002g0143 a0001c0001t0003g0314 a0001c0001t0003g0330 a0001c0001t0003g0338 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0016 a0002c0002t0001g0021 a0002c0002t0001g0023 a0002c0002t0001g0033 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0059 a0002c0002t0001g0061 a0002c0002t0001g0065 a0002c0002t0001g0067 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0091 a0002c0002t0001g0096 a0002c0002t0001g0100 a0002c0002t0001g0133 a0002c0002t0001g0139 a0002c0002t0001g0142 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0156 a0002c0002t0001g0160 a0002c0002t0001g0163 a0002c0002t0001g0166 a0002c0002t0001g0170 a0002c0002t0001g0180 a0002c0002t0001g0184 a0002c0002t0001g0233 a0002c0002t0001g0241 a0002c0002t0001g0275 a0002c0002t0001g0278 a0002c0002t0001g0302 a0002c0002t0001g0316 a0002c0002t0001g0328 a0002c0002t0001g0331 a0002c0002t0001g0349 a0002c0002t0001g0361 a0002c0002t0009g0062 a0002c0002t0009g0063 a0002c0002t0009g0068 a0002c0002t0009g0290 a0002c0002t0027g0351 a0002c0002t0036g0195 a0002c0027t0001g0053 a0007c0010t0001g0154 a0007c0010t0001g0205 a0007c0010t0001g0329 a0014c0028t0001g0003 a0015c0019t0004g0303 a0023c0030t0001g0069	81	355	0.2282	48	c.772 others(63): Show c.772+315_772+316insTCATTCATTCCTTTCTTCACCCCCATTCAT TCCTTTCTTCACCCCCTT		DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6						chr4	TogoVar
DPEP1_chr16_89608642_89643433	89634834	T T	TCCCTTCC others(41): Show TCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02976.hp2 HG02109.hp1 HG02109.hp2 HG02976.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0049 a0003c0004t0002g0050 a0003c0004t0002g0233 a0003c0004t0002g0049 a0003c0004t0002g0050 a0003c0004t0002g0233	3	244	0.0123	48	c.105 others(65): Show c.105-1064_105-1063insCCTTTCCCCTTCCTTCCCTTTCCCTTCC TTCTCCTTTCCCCTTCCTTC		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634913	C C	CCCTTCCT others(41): Show CCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03516.hp1 HG01891.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0054 a0002c0002t0001g0055	2	219	0.0091	48	c.105 others(63): Show c.105-993_105-992insTTCCTTCTCCTTTCCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCC		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89635035	C C	CCCTTTCC others(41): Show CCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	160	0.0063	48	c.105 others(63): Show c.105-800_105-753dupTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCTCCTTTCCC		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89635104	T T	TCCCTTCC others(41): Show TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03098.hp1 NA20129.hp2 HG01192.hp2 HG03098.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0095 a0001c0001t0002g0170 a0001c0001t0002g0172	3	245	0.0122	48	c.105 others(63): Show c.105-762_105-761insCCTTTCCCCTTCCTTCTCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTC		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89635153	C C	CCCCTCCT others(41): Show CCCCTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	196	0.0051	48	c.105 others(63): Show c.105-751_105-750insCCTTCTCCTTTCCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCT		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
DPF3_chr14_72604034_72899101	72884953	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03491.hp2 HG03492.hp1 HG02615.hp2 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0079 a0001c0002t0025 a0001c0001t0079 a0001c0002t0025	a0001c0001t0079g0119 a0001c0002t0025g0117 a0001c0002t0025g0118 a0001c0001t0079g0119 a0001c0002t0025g0117 a0001c0002t0025g0118	3	191	0.0157	48	c.32+ others(63): Show c.32+9103_32+9104insGTATATATATATATATATATATATATATAT ATATATATATATATATAT		DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	1/10						chr14	TogoVar
DPP6_chr7_154047398_154899285	154794811	T T	TGGGCCCC others(41): Show TGGGCCCCCCCCACCCCCACCCCCACCCCCACCCCACGCTGCTCCATCA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0024 a0001c0003t0007g0024	1	18	0.0556	48	c.126 others(65): Show c.1260+617_1260+618insCCCACCCCCACCCCCACCCCCACCCCAC GCTGCTCCATCAGGGCCCCC		DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	11/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP8_chr15_65437467_65522689	65448865	A A	AATATATA others(41): Show AATATATATATATGTGTGTGTGTATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0012 a0001c0003t0014g0012	1	52	0.0192	48	c.252 others(67): Show c.2527-1860_2527-1859insATATATATATATATATATATATATAT ACACACACACATATATATATAT		DPP8	ENSG00000074603.19	transcript	ENST00000300141.11	protein_coding	19/19						chr15	TogoVar
DPYSL2_chr8_26509031_26663175	26556285	A A	AGTATATA others(41): Show AGTATATATATACTATATATATAGTATATATATAGTATATATATAGTAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0015 a0001c0001t0019g0015	1	58	0.0172	48	c.355 others(67): Show c.355-25684_355-25683insGTATATATATACTATATATATAGTAT ATATATAGTATATATATAGTAT		DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13						chr8	TogoVar
DPYSL4_chr10_132181948_132210759	132186856	T T	TCGGGGGC others(41): Show TCGGGGGCGGGCCCTATCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01255.hp2 HG03017.hp2 others(5): Show HG01081.hp1 HG01255.hp2 HG03017.hp2 HG03654.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0005 a0001c0002t0003 a0001c0003t0005	a0001c0002t0003g0019 a0001c0002t0003g0200 a0001c0002t0003g0201 others(1): Show a0001c0002t0003g0019 a0001c0002t0003g0200 a0001c0002t0003g0201 a0001c0003t0005g0202	8	388	0.0206	48	c.-20 others(57): Show c.-208_-207insCGGGGGCGGGCCCTATCGGGGGCGGGGCCTGCCGGG GGCGGGGCCTGC		DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding					91		chr10	TogoVar
DPYSL4_chr10_132181948_132210759	132186856	T T	TCGGGGGC others(41): Show TCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0028 a0001c0002t0003g0028	1	381	0.0026	48	c.-20 others(57): Show c.-208_-207insCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGG GGCGGGGCCTGC		DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding					91		chr10	TogoVar
DPYSL5_chr2_26843132_26955351	26928704	T T	TATATATA others(41): Show TATATATATATATATATATACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0042 a0001c0002t0015g0042	1	115	0.0087	48	c.669 others(63): Show c.669+382_669+383insTATATATATATATATATACACACACACACA CACACACACACACACACA		DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26928704	T T	TATATATA others(41): Show TATATATATATATATATATATACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0134 a0001c0002t0002g0134	1	115	0.0087	48	c.669 others(63): Show c.669+382_669+383insTATATATATATATATATATACACACACACA CACACACACACACACACA		DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC1_chr2_26396920_26461711	26439922	A A	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0325 a0001c0001t0001g0325	1	257	0.0039	48	c.889 others(63): Show c.889-441_889-440insTATATATATATATATATATATATATATATA TATATATATATATATATA		DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	7/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC1_chr2_26396920_26461711	26439936	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0281 a0003c0004t0002g0282 a0003c0004t0002g0281 a0003c0004t0002g0282	2	256	0.0078	48	c.889 others(63): Show c.889-441_889-440insTATATATATATATATATATATATATATATA TATATATATATACACACA		DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	7/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
DRD4_chr11_632269_645706	640017	C C	CCCCTGCG others(41): Show CCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTTCCCCGGGGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00735.hp1 HG03688.hp2 HG00735.hp1 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	2	420	0.0048	48	c.793 others(55): Show c.793_840dupCCCGCGCCCGGCCTTCCCCGGGGTCCCTGCGGCCCCGA CTGTGCGCCC	p.Pro others(13): Show p.Pro265_Pro280dup	DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding	3/4	877/1399	841/1260	281/419		INFO_REALIGN_3_PRIME	chr11	TogoVar
DRD4_chr11_632269_645706	640023	C C	CGGCCCCG others(41): Show CGGCCCCGACTGTGCGCCCCCCGCGCCCAGCCTCCCCCAGGACCCCTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00673.hp2 HG02165.hp1 NA18944.hp2 others(3): Show HG00673.hp2 HG02165.hp1 NA18944.hp2 NA18970.hp2 NA19058.hp2 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0002c0003t0001g0001 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0002c0003t0001g0001 a0002c0003t0001g0003	6	419	0.0143	48	c.801 others(55): Show c.801_802insAGCCTCCCCCAGGACCCCTGTGGCCCCGACTGTGCGCC CCCCGCGCCC	p.Pro others(61): Show p.Pro267_Gly268insSerLeuProGlnAspProCysGlyProAspCy sAlaProProAlaPro	DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding	3/4	838/1399	802/1260	268/419		INFO_REALIGN_3_PRIME	chr11	TogoVar
DRD4_chr11_632269_645706	640090	G G	GCCGCGCC others(41): Show GCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCCCCGACTGTGCGCCCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	354	0.0028	48	c.849 others(55): Show c.849_850insGGCCTCCCCCCGGACCCCTGCGGCCCCGACTGTGCGCC CCCCGCGCCC	p.Pro others(61): Show p.Pro283_Ser284insGlyLeuProProAspProCysGlyProAspCy sAlaProProAlaPro	DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding	3/4	886/1399	850/1260	284/419		INFO_REALIGN_3_PRIME	chr11	TogoVar
DRD4_chr11_632269_645706	640119	C C	CGGCCCCG others(41): Show CGGCCCCGACTGTGCGCCTCCCGCGCCCGGCCTTCCCCGGGGTCCCTGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA20300.hp1 NA20300.hp1	a0023 a0023	a0023c0024 a0023c0024	a0023c0024t0005 a0023c0024t0005	a0023c0024t0005g0043 a0023c0024t0005g0043	1	139	0.0072	48	c.887 others(55): Show c.887_888insTCCCGCGCCCGGCCTTCCCCGGGGTCCCTGTGGCCCCG ACTGTGCGCC	p.Pro others(61): Show p.Pro296_Pro297insProAlaProGlyLeuProArgGlyProCysGl yProAspCysAlaPro	DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding	3/4	924/1399	888/1260	296/419		INFO_REALIGN_3_PRIME	chr11	TogoVar
DRD4_chr11_632269_645706	642777	A A	AAGGGCCA others(41): Show AAGGGCCAGGCGGGGTGAGGGACAGGCGGGGTGAGGGGCAGGTGGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0063 a0003c0004t0001g0063	1	417	0.0024	48	c.21 others(59): Show c.2174_*2175insAGGGCCAGGCGGGGTGAGGGACAGGCGGGGTGAG GGGCAGGTGGGGTG		DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding					2072		chr11	TogoVar
DROSHA_chr5_31395494_31537093	31421897	A A	AAAATATA others(41): Show AAAATATATATATATATATATATATATATATATATATATATATATGCGC	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18943.hp1 NA19088.hp1 HG00597.hp1 NA18943.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0001 a0002c0005t0001 a0001c0002t0001 a0002c0005t0001	a0001c0002t0001g0157 a0002c0005t0001g0268 a0002c0005t0001g0283 a0001c0002t0001g0157 a0002c0005t0001g0268 a0002c0005t0001g0283	3	261	0.0115	48	c.342 others(65): Show c.3420-521_3420-520insGCGCATATATATATATATATATATATAT ATATATATATATATATATTT		DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35						chr5	TogoVar
DTX2_chr7_76456709_76510991	76486884	C C	CTGCTGCT others(41): Show CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0064 a0003c0005t0001g0064	1	174	0.0057	48	c.908 others(65): Show c.908+3740_908+3741insTGCTGCTGCTGCTGCTGCTGCTGCTGCT GCTGCTGCTGCTGCTTTTGC		DTX2	ENSG00000091073.20	transcript	ENST00000430490.7	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
DUOX1_chr15_45124994_45170574	45142767	A A	AGAAGGAA others(41): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0292 a0002c0002t0003g0292	1	161	0.0062	48	c.182 others(65): Show c.1823-402_1823-401insAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGG		DUOX1	ENSG00000137857.18	transcript	ENST00000389037.7	protein_coding	15/33					INFO_REALIGN_3_PRIME	chr15	TogoVar
DUSP29_chr10_75032472_75078642	75059283	A A	AGTGTGTG others(41): Show AGTGTGTGAGATGACTGTGCCATTTGGCAGAGATGTTAGGATTGCAGTG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	366	0.0027	48	c.-34 others(63): Show c.-34-736_-34-735insCACTGCAATCCTAACATCTCTGCCAAATGG CACAGTCATCTCACACAC		DUSP29	ENSG00000188716.6	transcript	ENST00000338487.6	protein_coding	1/3						chr10	TogoVar
DUXA_chr19_57149021_57172485	57149564	A A	AAAAGAAA others(41): Show AAAAGAAAGACCTCATGAGGCGGGCAGATCACGAGGTCAGGAGATCAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	444	0.0023	48	c.48 others(59): Show c.4847_*4848insCTTGATCTCCTGACCTCGTGATCTGCCCGCCTCA TGAGGTCTTTCTTT		DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding					4456		chr19	TogoVar
DVL1_chr1_1330278_1354418	1349744	G G	GGCCGAGC others(41): Show GGCCGAGCGGAATGCGGGGGCGCGCGGGGGCGCGGGCGTGCACGCAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	342	0.0029	48	c.-68 others(57): Show c.-680_-679insGCCTGCGTGCACGCCCGCGCCCCCGCGCGCCCCCGC ATTCCGCTCGGC		DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding					327		chr1	TogoVar
DYM_chr18_49031387_49465645	49317646	C C	CTCCTCTC others(41): Show CTCCTCTCCTCTCCTCTCCTCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0172 a0001c0001t0006g0172	1	187	0.0053	48	c.763 others(67): Show c.763+14217_763+14218insAGGAAGGAAGGAAGGAAGGAAGGAAG GAGAGGAGAGGAGAGGAGAGGA		DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17						chr18	TogoVar
DYNC2I2_chr9_128628653_128661847	128650541	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0011 a0001c0003t0001g0011	1	363	0.0028	48	c.186 others(65): Show c.186+5999_186+6000insCATATATATATATATATATATATATATA TATATATATATATATATATA		DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8						chr9	TogoVar
ECD_chr10_73128668_73173008	73149911	G G	GAGGAAGA others(41): Show GAGGAAGAATCAATACAAAGAAATGGAAGAACATTCCATGCTCATGGGT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0108 a0003c0004t0003g0108	1	270	0.0037	48	c.913 others(65): Show c.913-1508_913-1507insACCCATGAGCATGGAATGTTCTTCCATT TCTTTGTATTGATTCTTCCT		ECD	ENSG00000122882.11	transcript	ENST00000372979.9	protein_coding	7/13						chr10	TogoVar
EDA_chrX_69611113_70044472	69645584	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0182 a0001c0001t0004g0182	1	48	0.0208	48	c.396 others(67): Show c.396+28889_396+28890insATATATATATATATATATATATATAT ATATATATATATGTATATATAT		EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69645584	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02056.hp1 HG02896.hp1 others(1): Show HG01496.hp2 HG02056.hp1 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0178 others(1): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0178 a0001c0001t0001g0196	4	51	0.0784	48	c.396 others(67): Show c.396+28889_396+28890insATATATATATATATATATATATATAT ATATATATGTGTGTATATATAT		EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69645584	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03654.hp1 HG02135.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0090 a0001c0001t0002g0095 a0001c0001t0001g0090 a0001c0001t0002g0095	2	49	0.0408	48	c.396 others(67): Show c.396+28889_396+28890insATATATATATATATATATATATATAT ATATATGTGTGTGTATATATAT		EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69655762	C C	CTATATAT others(41): Show CTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	34	0.0294	48	c.396 others(67): Show c.396+39083_396+39084insATATATATATATATATATATATATAT ATATATATATATATATATATAT		EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69655762	C C	CTATATAT others(41): Show CTATATATATATCTATATATATATATCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	34	0.0294	48	c.396 others(67): Show c.396+39069_396+39070insCTATATATATATATCTATATATATAT ATATATATATATATATATATAT		EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chrX	TogoVar

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