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
DACT2_chr6_168301904_168324777	168311594	A A	ACACACTC others(43): Show ACACACTCACACCCATACACACACACTCACACACAAACACACACACCCAT C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(111): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02293.hp1 HG02523.hp2 HG02622.hp2 HG02735.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03139.hp2 HG03195.hp2 HG03471.hp1 HG03490.hp2 HG03654.hp1 HG03710.hp1 HG03942.hp1 HG04184.hp1 NA18906.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18969.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19011.hp2 NA19012.hp2 NA19055.hp2 NA19057.hp2 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19077.hp2 NA19080.hp2 NA19085.hp2 NA19091.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0011 a0019 others(2): Show a0001 a0011 a0019 a0020 a0025	a0001c0001 a0001c0011 a0001c0036 others(4): Show a0001c0001 a0001c0011 a0001c0036 a0011c0030 a0019c0029 a0020c0020 a0025c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0014 a0001c0011t0001 a0001c0011t0002 a0001c0036t0002 a0011c0030t0003 a0019c0029t0001 a0020c0020t0002 a0025c0028t0002	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 others(66): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0210 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0261 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0275 a0001c0001t0001g0288 a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0323 a0001c0001t0002g0003 a0001c0001t0002g0021 a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0078 a0001c0001t0002g0083 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0127 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0141 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0153 a0001c0001t0002g0165 a0001c0001t0002g0169 a0001c0001t0002g0183 a0001c0001t0011g0053 a0001c0001t0011g0226 a0001c0001t0014g0280 a0001c0011t0001g0198 a0001c0011t0001g0252 a0001c0011t0002g0084 a0001c0036t0002g0158 a0011c0030t0003g0100 a0019c0029t0001g0196 a0020c0020t0002g0146 a0025c0028t0002g0155	114	469	0.2431	50	c.247 others(65): Show c.247-311_247-310insGATGGGTGTGTGTGTTTGTGTGTGAGTGTG TGTGTATGGGTGTGAGTGTG	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
DAGLB_chr7_6404129_6452954	6421307	T T	TCAGCGCG others(43): Show TCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGC G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02257.hp1 HG02300.hp2 others(2): Show HG01074.hp2 HG02257.hp1 HG02300.hp2 HG02572.hp1 HG04204.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0006 a0002c0003 others(1): Show a0001c0001 a0001c0006 a0002c0003 a0005c0008	a0001c0001t0004 a0001c0006t0003 a0002c0003t0001 others(1): Show a0001c0001t0004 a0001c0006t0003 a0002c0003t0001 a0005c0008t0002	a0001c0001t0004g0367 a0001c0006t0003g0180 a0002c0003t0001g0018 others(2): Show a0001c0001t0004g0367 a0001c0006t0003g0180 a0002c0003t0001g0018 a0002c0003t0001g0062 a0005c0008t0002g0186	5	121	0.0413	50	c.121 others(67): Show c.1218+419_1218+420insCGCCTCCCGCGCTGCCTGCGCCTCCCGC GCTGCCTGCGCCTCCCGCGCTG	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14			chr7	TogoVar
DAPK2_chr15_63902036_64051485	64036305	G G	GTATATAT others(43): Show GTATATATATGTATATATATATATATGTATATATATATACATATATATAT A	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	149	0.0067	50	c.92+ others(65): Show c.92+3864_92+3865insTATATATATATGTATATATATATACATATA TATATATATACATATATATA	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11			chr15	TogoVar
DAPK2_chr15_63902036_64051485	64036311	A A	ATATGTAT others(43): Show ATATGTATATATATATATATGTATATATATATACATATATATATATATAT G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0152 a0001c0001t0001g0153	2	199	0.0101	50	c.92+ others(65): Show c.92+3858_92+3859insCATATATATATATATATGTATATATATATA CATATATATATATATACATA	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11			chr15	TogoVar
DAPK2_chr15_63902036_64051485	64036319	G G	GTATATAT others(43): Show GTATATATATATATATGTATATATATATACATATATATATATATATGTAT A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00639.hp2 others(14): Show HG00140.hp2 HG00280.hp2 HG00639.hp2 HG01106.hp2 HG01192.hp2 HG01258.hp1 HG01361.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01978.hp1 HG02486.hp1 HG02602.hp2 HG02735.hp1 HG02738.hp2 HG04184.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(14): Show a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0169	17	102	0.1667	50	c.92+ others(65): Show c.92+3850_92+3851insTATACATATATATATATATATGTATATATA TATACATATATATATATATA	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11			chr15	TogoVar
DAPK2_chr15_63902036_64051485	64036319	G G	GTATATAT others(43): Show GTATATATATATATATGTATATATATATACATATATATATATATATGTGT A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01891.hp2 HG03688.hp2 HG00099.hp1 HG01891.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0110 a0001c0001t0001g0134 a0001c0001t0001g0135	3	88	0.0341	50	c.92+ others(65): Show c.92+3850_92+3851insTACACATATATATATATATATGTATATATA TATACATATATATATATATA	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11			chr15	TogoVar
DAPK2_chr15_63902036_64051485	64036319	G G	GTATATAT others(43): Show GTATATATATATATATGTATATATATATACATATATATATATATGTATAT A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01070.hp1 others(3): Show HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01981.hp1 HG02083.hp2 NA18972.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0001c0001t0012 a0003c0007t0001 a0001c0001t0001 a0001c0001t0012 a0003c0007t0001	a0001c0001t0001g0114 a0001c0001t0001g0129 a0001c0001t0001g0131 others(3): Show a0001c0001t0001g0114 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0012g0128 a0003c0007t0001g0130	6	91	0.0659	50	c.92+ others(65): Show c.92+3850_92+3851insTATATACATATATATATATATGTATATATA TATACATATATATATATATA	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11			chr15	TogoVar
DAW1_chr2_227866631_227929344	227911227	T T	TGTGTATA others(43): Show TGTGTATATATACATATATACATATATACACGTGTATATATACATATACA C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0187 a0001c0003t0001g0188 a0001c0003t0001g0187 a0001c0003t0001g0188	2	338	0.0059	50	c.973 others(67): Show c.973+4014_973+4015insTACATATACACGTGTATATATACATATA TACATATATACACGTGTATATA	DAW1	ENSG00000123977.10	transcript	ENST00000309931.3	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCC_chr18_52335197_53540899	52792769	T T	TATTCCAT others(43): Show TATTCCATTCCATTCCATTCCATTCCATTCCATTCCATTCCATTCCATTC C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01496.hp1 HG01433.hp1 HG01496.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0025 a0001c0007t0003g0026 a0001c0007t0003g0025 a0001c0007t0003g0026	2	33	0.0606	50	c.412 others(69): Show c.412+40431_412+40432insTTCCATTCCATTCCATTCCATTCCAT TCCATTCCATTCCATTCCATTCCA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53300985	C C	CTTTCTTT others(43): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTTC T	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0078 a0002c0001t0005g0078	1	106	0.0094	50	c.191 others(69): Show c.1912-4586_1912-4585insCTTTCTTTCTTTCTTTCTTTCTTTCC TTTCTTTCTTTCTTTCTTTTCTTT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	12/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCDC1_chr11_30858603_31374739	31250415	C C	CACACATA others(43): Show CACACATATACATATACATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0120 a0001c0006t0002g0120	1	114	0.0088	50	c.105 others(69): Show c.1055-8800_1055-8799insATATATATATATATATATATATATAT ATATATATGTATATGTATATGTGT	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	8/38			chr11	TogoVar
DCDC1_chr11_30858603_31374739	31250415	C C	CACACATA others(43): Show CACACATATACATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	114	0.0088	50	c.105 others(69): Show c.1055-8800_1055-8799insATATATATATATATATATATATATAT ATATATATATATATGTATATGTGT	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	8/38			chr11	TogoVar
DCDC1_chr11_30858603_31374739	31250421	C C	CATATATA others(43): Show CATATATATATATATATATATATATATATATATATATATATATATACATA T	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02132.hp1 HG02080.hp1 HG02132.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0002 a0004c0009t0006 a0001c0001t0002 a0004c0009t0006	a0001c0001t0002g0033 a0004c0009t0006g0001 a0001c0001t0002g0033 a0004c0009t0006g0001	2	78	0.0256	50	c.105 others(69): Show c.1055-8806_1055-8805insATATGTATATATATATATATATATAT ATATATATATATATATATATATAT	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	8/38			chr11	TogoVar
DCLK1_chr13_35763652_36136382	35847623	A A	AAGAAAGA others(43): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0115 a0001c0002t0003g0115	1	13	0.0769	50	c.103 others(69): Show c.1035+6875_1035+6876insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCT	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	6/16			chr13	TogoVar
DCLK2_chr4_150073445_150262438	150175145	T T	TTTTATAT others(43): Show TTTTATATATATTTATAATTTATATATATTTATATATATAATTTATATAT A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0006 a0002c0008t0006	a0002c0008t0006g0032 a0002c0008t0006g0032	1	114	0.0088	50	c.757 others(69): Show c.757-17955_757-17954insAATTTATATATATTTATATATATTTA TAATTTATATATATTTATATATAT	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DCLK2_chr4_150073445_150262438	150175192	T T	TATATATA others(43): Show TATATATATTTATATATATTTATAATTTATATATATTTATATATATTTAT A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG02165.hp1 others(13): Show HG00140.hp1 HG00558.hp2 HG02165.hp1 HG02280.hp1 HG02280.hp2 HG02818.hp1 HG02897.hp1 HG02976.hp1 HG03209.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0002c0002 a0004c0005	a0001c0001t0001 a0001c0003t0002 a0001c0003t0005 others(5): Show a0001c0001t0001 a0001c0003t0002 a0001c0003t0005 a0001c0009t0007 a0002c0002t0015 a0002c0002t0018 a0004c0005t0001 a0004c0005t0019	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0088 others(13): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0088 a0001c0003t0002g0021 a0001c0003t0002g0022 a0001c0003t0002g0023 a0001c0003t0002g0024 a0001c0003t0005g0020 a0001c0009t0007g0030 a0002c0002t0015g0031 a0002c0002t0018g0114 a0004c0005t0001g0001 a0004c0005t0001g0073 a0004c0005t0001g0074 a0004c0005t0001g0075 a0004c0005t0019g0115	16	113	0.1416	50	c.757 others(69): Show c.757-17944_757-17943insATATATTTATATATATTTATAATTTA TATATATTTATATATATTTATAAT	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DCLK2_chr4_150073445_150262438	150250941	A A	ACATCCCC others(43): Show ACATCCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCCCACACC C	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	107	0.0093	50	c.207 others(69): Show c.2073+1258_2073+1259insATCCCCCACACCCCCCACATCCCCCA CACCCCCCACATCCCCCACACCCC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DCUN1D5_chr11_103045686_103097160	103049765	C C	CTCTCTCT others(43): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATAT A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 NA18951.hp2 HG00597.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0096 a0001c0001t0001 a0001c0001t0096	a0001c0001t0001g0032 a0001c0001t0096g0122 a0001c0001t0001g0032 a0001c0001t0096g0122	2	68	0.0294	50	c.12 others(63): Show c.12593_*12594insTATATATATATATATATATAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGA	DCUN1D5	ENSG00000137692.12	transcript	ENST00000260247.10	protein_coding		920		chr11	TogoVar
DDC_chr7_50453442_50570405	50460415	G G	GGTCAGCC others(43): Show GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG T	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA20129.hp2 HG03225.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0012	2	355	0.0056	50	c.19 others(67): Show c.19-1573_*19-1572insACCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGAC	DDC	ENSG00000132437.18	transcript	ENST00000444124.7	protein_coding	14/14			chr7	TogoVar
DDX1_chr2_15586868_15636101	15611566	A A	ACCCCCCC others(43): Show ACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGA C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02027.hp1 HG02071.hp1 others(37): Show HG00673.hp2 HG02027.hp1 HG02071.hp1 HG02135.hp1 HG02602.hp1 NA18943.hp2 NA18945.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18955.hp1 NA18959.hp1 NA18961.hp2 NA18965.hp1 NA18968.hp1 NA18971.hp2 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18984.hp2 NA18986.hp2 NA18990.hp2 NA19000.hp1 NA19004.hp2 NA19010.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19059.hp2 NA19062.hp2 NA19067.hp1 NA19070.hp1 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19079.hp1 NA19091.hp2	a0001 a0001	a0001c0004 a0001c0012 a0001c0004 a0001c0012	a0001c0004t0003 a0001c0004t0007 a0001c0012t0003 a0001c0004t0003 a0001c0004t0007 a0001c0012t0003	a0001c0004t0003g0002 a0001c0004t0003g0019 a0001c0004t0003g0020 others(19): Show a0001c0004t0003g0002 a0001c0004t0003g0019 a0001c0004t0003g0020 a0001c0004t0003g0021 a0001c0004t0003g0043 a0001c0004t0003g0044 a0001c0004t0003g0045 a0001c0004t0003g0181 a0001c0004t0003g0182 a0001c0004t0003g0184 a0001c0004t0003g0185 a0001c0004t0003g0186 a0001c0004t0003g0187 a0001c0004t0003g0188 a0001c0004t0003g0189 a0001c0004t0003g0190 a0001c0004t0003g0193 a0001c0004t0003g0194 a0001c0004t0003g0196 a0001c0004t0003g0199 a0001c0004t0007g0002 a0001c0012t0003g0002	40	392	0.1020	50	c.957 others(67): Show c.957-1652_957-1651insCACCTCCCTCCCGGACGGGGTGGCTGGC CGGGCGGGGGGCTGACCCCCCC	DDX1	ENSG00000079785.16	transcript	ENST00000233084.8	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX1_chr2_15586868_15636101	15611571	C C	CCCACCTC others(43): Show CCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCC G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0191 a0001c0004t0003g0191	1	394	0.0025	50	c.957 others(67): Show c.957-1652_957-1651insCACCTCCCTCCCGGACGGGGTGGCTGGC CGGGCGGGGGGCTGACCCCCGC	DDX1	ENSG00000079785.16	transcript	ENST00000233084.8	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX28_chr16_68015916_68028232	68020855	A A	ATATATAT others(43): Show ATATATATATATATATATATATACGTATATATATATATATATATATATAC G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	381	0.0026	50	c.72 others(59): Show c.724_*725insCGTATATATATATATATATATATATACGTATATATA TATATATATATATA	DDX28	ENSG00000182810.7	transcript	ENST00000332395.7	protein_coding		60		chr16	TogoVar
DDX31_chr9_132587997_132674983	132632254	A A	ACACACAC others(43): Show ACACACACACACACACACACACACACACACACACACACACACACAGTCCT G	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0252 a0001c0001t0004g0252	1	390	0.0026	50	c.144 others(67): Show c.1441-213_1441-164dupCAGGACTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTG	DDX31	ENSG00000125485.18	transcript	ENST00000372159.8	protein_coding	14/19			chr9	TogoVar
DDX31_chr9_132587997_132674983	132632256	A A	ACACACAC others(43): Show ACACACACACACACACACACACACACACACACACACACACACACAGTCCT G	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	397	0.0025	50	c.144 others(67): Show c.1441-166_1441-165insCAGGACTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTG	DDX31	ENSG00000125485.18	transcript	ENST00000372159.8	protein_coding	14/19			chr9	TogoVar
DDX31_chr9_132587997_132674983	132632282	A A	GCACACAC others(43): Show GCACACACACACACACAGTCCTGCACACACACACACACACACACACACAC A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0264 a0006c0010t0001g0264	1	400	0.0025	50	c.144 others(67): Show c.1441-191_1441-190insGTGTGTGTGTGTGTGTGTGTGTGTGTGC AGGACTGTGTGTGTGTGTGTGC	DDX31	ENSG00000125485.18	transcript	ENST00000372159.8	protein_coding	14/19			chr9	TogoVar
DDX47_chr12_12808346_12834981	12809758	G G	GTATATAT others(43): Show GTATATATATATATATATATATATATATATATATATATATATATGTATAT A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	218	0.0046	50	c.-36 others(61): Show c.-3610_-3609insTATATATATATATATATATATATATATATATATA TATATATATGTATATA	DDX47	ENSG00000213782.7	transcript	ENST00000358007.7	protein_coding		3587		chr12	TogoVar
DEAF1_chr11_639233_700222	690266	C C	CAGGAGAG others(43): Show CAGGAGAGGGGAGGGGAGGGCAGGGCAGGGGAGGGCAGGGGAGGGGAGGG G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(98): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01175.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG02004.hp1 HG02083.hp1 HG02129.hp2 HG02148.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02965.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03492.hp1 HG03516.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18952.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18994.hp1 NA18995.hp1 NA18999.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19070.hp1 NA19074.hp1 NA19091.hp2 NA20129.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0003 a0001c0006 others(5): Show a0001c0001 a0001c0003 a0001c0006 a0001c0009 a0001c0011 a0001c0013 a0003c0007 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0006t0001 a0001c0009t0001 a0001c0011t0001 a0001c0013t0001 a0003c0007t0001 a0005c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(96): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0002g0134 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0003t0001g0057 a0001c0006t0001g0020 a0001c0006t0001g0106 a0001c0006t0001g0107 a0001c0006t0001g0108 a0001c0006t0001g0118 a0001c0009t0001g0064 a0001c0011t0001g0086 a0001c0013t0001g0080 a0003c0007t0001g0040 a0003c0007t0001g0041 a0005c0010t0001g0085	101	185	0.5459	50	c.387 others(67): Show c.387+1234_387+1235insCCCCTCCCCTCCCCTGCCCTCCCCTGCC CTGCCCTCCCCTCCCCTCTCCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DEFB124_chr20_31460471_31480127	31470649	C C	CGGGGGGC others(43): Show CGGGGGGCTGACCCCCCCCACCTCCCTCCTGGACAGGGCGGCTGGCCGGG T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	179	0.0056	50	c.58+ others(65): Show c.58+2306_58+2307insACCCGGCCAGCCGCCCTGTCCAGGAGGGAG GTGGGGGGGGTCAGCCCCCC	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DEFB124_chr20_31460471_31480127	31470649	C C	CGGGGGGG others(43): Show CGGGGGGGCTGACCCCCCCACCTCCCTCCTGGACAGGGCGGCTGGCCGGG T	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	179	0.0056	50	c.58+ others(65): Show c.58+2306_58+2307insACCCGGCCAGCCGCCCTGTCCAGGAGGGAG GTGGGGGGGTCAGCCCCCCC	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DEFB124_chr20_31460471_31480127	31471355	C C	CGGGGGGC others(43): Show CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC G	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	39	0.0256	50	c.58+ others(65): Show c.58+1600_58+1601insCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCC	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DEGS2_chr14_100138957_100164645	100153126	T T	TGTGCCTG others(43): Show TGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAAGATCGCTTG A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0092 a0001c0003t0010g0092	1	438	0.0023	50	c.83- others(65): Show c.83-3466_83-3417dupTCAAGCGATCTTCCCACCTCAGCCTCCCAA GTAGCTGGGACCACAGGCAC	DEGS2	ENSG00000168350.8	transcript	ENST00000305631.7	protein_coding	1/2			chr14	TogoVar
DENND1A_chr9_123374658_123935126	123495141	T T	TTCTCTCT others(43): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03704.hp2 HG01884.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0149 a0001c0001t0003g0152 a0001c0001t0001g0149 a0001c0001t0003g0152	2	22	0.0909	50	c.994 others(69): Show c.994-37245_994-37244insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1B_chr1_197499748_197780480	197770705	A A	AATATATA others(43): Show AATATATAAATATATATCTATAAATATATATAAATATATATATCTATAAA T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03579.hp2 HG02257.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0008 a0001c0001t0003g0009	2	277	0.0072	50	c.82+ others(65): Show c.82+2113_82+2162dupATTTATAGATATATATATTTATATATATTT ATAGATATATATTTATATAT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	2/22			chr1	TogoVar
DENND6A_chr3_57620454_57698077	57644752	A A	AGGGGAGG others(43): Show AGGGGAGGGGAGGGGTGGGGAGGGGAGGGGAGGGGTGGGGAGGGGAGGGG T	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG04115.hp1 HG02683.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0269 a0001c0001t0001g0209 a0001c0001t0001g0269	2	222	0.0090	50	c.103 others(67): Show c.1037+908_1037+909insACCCCTCCCCTCCCCACCCCTCCCCTCC CCTCCCCACCCCTCCCCTCCCC	DENND6A	ENSG00000174839.13	transcript	ENST00000311128.10	protein_coding	11/19			chr3	TogoVar
DENND6B_chr22_50304030_50332012	50316980	C C	CGGGGGGG others(43): Show CGGGGGGGGCCACGAGGACAGGGTGGGGGGGGGGGCGGCGAGGACAGGAT G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0028 a0003c0007t0028	a0003c0007t0028g0268 a0003c0007t0028g0268	1	297	0.0034	50	c.453 others(65): Show c.453+312_453+313insCATCCTGTCCTCGCCGCCCCCCCCCCCACC CTGTCCTCGTGGCCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50317020	C C	CAGGGTGG others(43): Show CAGGGTGGGGGGGCGGCGAGGACAGGGCGGGGGGCCCCGAGGACAGGGTG G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp1 HG02895.hp1 others(4): Show HG01891.hp2 HG02486.hp1 HG02895.hp1 HG03540.hp2 HG06807.hp2 NA19043.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0016 a0001c0003 a0002c0002 a0002c0016	a0001c0003t0006 a0002c0002t0006 a0002c0016t0006 a0001c0003t0006 a0002c0002t0006 a0002c0016t0006	a0001c0003t0006g0020 a0002c0002t0006g0011 a0002c0002t0006g0012 others(4): Show a0001c0003t0006g0020 a0002c0002t0006g0011 a0002c0002t0006g0012 a0002c0002t0006g0019 a0002c0002t0006g0022 a0002c0016t0006g0010 a0002c0016t0006g0013	7	78	0.0897	50	c.453 others(65): Show c.453+272_453+273insCCACCCTGTCCTCGGGGCCCCCCGCCCTGT CCTCGCCGCCCCCCCACCCT	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50317020	C C	CAGGGTGG others(43): Show CAGGGTGGGGGGGGCGGCGAGGACAGGGCGGGGGGCCCCGAGGACAGGGT G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0024	a0002c0002t0024g0018 a0002c0002t0024g0018	1	72	0.0139	50	c.453 others(65): Show c.453+272_453+273insCACCCTGTCCTCGGGGCCCCCCGCCCTGTC CTCGCCGCCCCCCCCACCCT	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DEPDC1B_chr5_60591912_60705166	60668037	T T	TTATATAT others(43): Show TTATATATATATAAAATGGATATTTTATATATATATAAAATGGATATTTT A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	266	0.0038	50	c.314 others(69): Show c.314+18875_314+18924dupTAAAATATCCATTTTATATATATATA AAATATCCATTTTATATATATATA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60668258	T T	TTTATATA others(43): Show TTTATATATATATATAAAATGGATATTATATATATATATATAAAATGGAT A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02647.hp1 HG02895.hp2 others(2): Show HG02486.hp1 HG02647.hp1 HG02895.hp2 HG02897.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0081 a0001c0001t0002g0074 a0001c0001t0002g0075 others(2): Show a0001c0001t0001g0081 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0080	5	287	0.0174	50	c.314 others(69): Show c.314+18703_314+18704insTATCCATTTTATATATATATATATAA TATCCATTTTATATATATATATAA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60668258	T T	TTTATATA others(43): Show TTTATATATATATATAAAATGGATATTTTATATATATATATAAAATGGAT A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	283	0.0035	50	c.314 others(69): Show c.314+18703_314+18704insTATCCATTTTATATATATATATAAAA TATCCATTTTATATATATATATAA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DERA_chr12_15906332_16042381	15936937	T T	TGTCTTGT others(43): Show TGTCTTGTCTTGTCTTGTCTTGTCCCGTCCCGTCCCGTCCCGTCCCGTCC C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	191	0.0052	50	c.32- others(67): Show c.32-19996_32-19995insTTGTCTTGTCTTGTCTTGTCCCGTCCCG TCCCGTCCCGTCCCGTCCCGTC	DERA	ENSG00000023697.13	transcript	ENST00000428559.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
DESI1_chr22_41593028_41626043	41594335	G G	GGGTGGGG others(43): Show GGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGAGG C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	194	0.0052	50	c.67 others(61): Show c.6761_*6762insGCCTCCCCCACCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCACC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3692		chr22	TogoVar
DGAT1_chr8_144309584_144331852	144313723	G G	GCGCCGCC others(43): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCCTCCCCGCGCCGCC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	280	0.0036	50	c.28 others(61): Show c.2830_*2831insAGGCGGCGCGGGGAGGCGGGGAGGCGGGGAGGCG GCGCGGGGAGGCGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		860		chr8	TogoVar
DGKB_chr7_14140049_14907751	14461324	T T	TTTTTTTT others(43): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0009 a0001c0009t0009	a0001c0009t0009g0126 a0001c0009t0009g0126	1	144	0.0069	50	c.183 others(71): Show c.1835+16836_1835+16837insGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DGKD_chr2_233349494_233477098	233397165	G G	GCCAGAGC others(43): Show GCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGG T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0154 a0001c0001t0024g0154	1	329	0.0030	50	c.348 others(67): Show c.348+6682_348+6683insCCAGAGCGAGAGGACTCCAGAGGGGACC AGGGTGGCTGGGGGGGGGGGGT	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29			chr2	TogoVar
DGKK_chrX_50360409_50475825	50447331	T T	TATATATA others(43): Show TATATATATATTATATATATATATAATATATATATATTATATATATATAT A	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA19006.hp1 NA19072.hp1 others(2): Show HG00438.hp2 NA19006.hp1 NA19072.hp1 NA19075.hp1 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0062 a0002c0005t0001g0040 a0002c0005t0001g0041 others(2): Show a0001c0001t0001g0062 a0002c0005t0001g0040 a0002c0005t0001g0041 a0002c0005t0001g0042 a0002c0005t0001g0060	5	233	0.0215	50	c.645 others(69): Show c.645+22702_645+22703insTATATATATATATAATATATATATAT TATATATATATATAATATATATAT	DGKK	ENSG00000274588.2	transcript	ENST00000611977.2	protein_coding	1/27			chrX	TogoVar
DGUOK_chr2_73921880_73963946	73923641	C C	CAAGAAAA others(43): Show CAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02965.hp2 HG03041.hp2 others(1): Show HG02896.hp2 HG02965.hp2 HG03041.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0096 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0096	4	82	0.0488	50	c.-32 others(61): Show c.-3270_-3269insAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAA	DGUOK	ENSG00000114956.20	transcript	ENST00000264093.9	protein_coding		3238		chr2	TogoVar
DHCR24_chr1_54844627_54892195	54850503	C C	CTAAGACA others(43): Show CTAAGACACTGGCAGTGTGCCAAGCCTTGGGTGGGATGGGTGAACACCCT T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0062 a0001c0001t0019g0062	1	384	0.0026	50	c.16 others(61): Show c.1680_*1729dupAAGGGTGTTCACCCATCCCACCCAAGGCTTGGCA CACTGCCAGTGTCTTA	DHCR24	ENSG00000116133.13	transcript	ENST00000371269.9	protein_coding	9/9	1729		chr1	TogoVar
DHRSX_chrX_2214506_2505976	2468500	G G	GAAGAATG others(43): Show GAAGAATGTGGCCAAGGGACCGCCACTGTGTACGAACTGAAGACGTTTTC T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01928.hp1 HG02055.hp1 others(7): Show HG01261.hp1 HG01928.hp1 HG02055.hp1 HG02074.hp1 HG03130.hp1 HG03471.hp1 NA18612.hp1 NA18747.hp1 NA18952.hp2 NA18960.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0008	a0001c0001t0001 a0002c0002t0002 a0003c0003t0005 others(2): Show a0001c0001t0001 a0002c0002t0002 a0003c0003t0005 a0003c0003t0013 a0005c0008t0006	a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0037 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0044 a0002c0002t0002g0045 a0003c0003t0005g0027 a0003c0003t0013g0002 a0005c0008t0006g0032	10	48	0.2083	50	c.109 others(69): Show c.109+32316_109+32317insAGAAAACGTCTTCAGTTCGTACACAG TGGCGGTCCCTTGGCCACATTCTT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	1/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2478588	G G	GCACTGAA others(43): Show GCACTGAAGACATTCCCTAAGCATGTGGCCCTGGGACATCCACAGTGTAC A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02886.hp1 HG02647.hp1 HG02886.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0011 a0001c0001 a0009c0011	a0001c0001t0001 a0009c0011t0009 a0001c0001t0001 a0009c0011t0009	a0001c0001t0001g0029 a0009c0011t0009g0008 a0001c0001t0001g0029 a0009c0011t0009g0008	2	48	0.0417	50	c.109 others(69): Show c.109+22228_109+22229insTGTACACTGTGGATGTCCCAGGGCCA CATGCTTAGGGAATGTCTTCAGTG	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	1/6			chrX	TogoVar

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