Joint Open Genome and Omics Platform (JoGo)

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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
DDX60_chr4_168211294_168323752	168297319	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02273.hp2 NA18982.hp1 others(3): Show HG01952.hp1 HG02273.hp2 NA18982.hp1 NA18998.hp1 NA19054.hp2 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0011 a0002c0002t0001g0012 others(3): Show a0002c0002t0001g0008 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0099 a0002c0002t0001g0232 a0002c0002t0001g0234	6	262	0.0229	-23	c.724 others(40): Show c.724-3397_724-3375delCTTTCTTTCTTTCTTTCTTTCTT	DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	6/37			chr4	TogoVar
DEFA1_chr8_6972649_6985092	6974212	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	408	0.0025	-23	c.35 others(34): Show c.3535_*3557delGAAAGAAAGAAAGAAAGAAAGAA	DEFA1	ENSG00000206047.4	transcript	ENST00000382692.3	protein_coding		3436		chr8	TogoVar
DEFB103A_chr8_7876392_7887663	7885171	CTATAAAC others(16): Show CTATAAACACACAAATTTACCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	170	0.0059	-23	c.26 others(34): Show c.2604_*2626delTATAAACACACAAATTTACCACA	DEFB103A	ENSG00000176797.4	transcript	ENST00000314357.4	protein_coding		2509		chr8	TogoVar
DEFB112_chr6_50037099_50054929	50053967	CCATGAAT others(16): Show CCATGAATTTGATTTTTTCCCTAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0053 a0001c0001t0008g0053	1	330	0.0030	-23	c.-41 others(34): Show c.-4121_-4099delTTAGGGAAAAAATCAAATTCATG	DEFB112	ENSG00000180872.7	transcript	ENST00000651554.2	protein_coding		4039		chr6	TogoVar
DEFB123_chr20_31435632_31455257	31450550	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG02071.hp2 NA18947.hp2 HG00609.hp1 HG02071.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0118 a0001c0001t0001g0009 a0001c0001t0001g0118	3	355	0.0085	-23	c.37 others(32): Show c.377_*399delTATATATATATATATATATATTT	DEFB123	ENSG00000180424.7	transcript	ENST00000376309.4	protein_coding		294		chr20	TogoVar
DEFB123_chr20_31435632_31455257	31450552	ATATATAT others(16): Show ATATATATATATATATATATTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	324	0.0031	-23	c.37 others(32): Show c.379_*401delTATATATATATATATATATTTTT	DEFB123	ENSG00000180424.7	transcript	ENST00000376309.4	protein_coding		296		chr20	TogoVar
DEFB123_chr20_31435632_31455257	31450560	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 NA19043.hp2 HG01358.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0140 a0001c0001t0001g0006 a0001c0001t0001g0140	2	356	0.0056	-23	c.38 others(32): Show c.387_*409delTATATATATATTTTTTTTTTTTT	DEFB123	ENSG00000180424.7	transcript	ENST00000376309.4	protein_coding		304		chr20	TogoVar
DEFB123_chr20_31435632_31455257	31450566	ATATATTT others(16): Show ATATATTTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	366	0.0027	-23	c.39 others(32): Show c.393_*415delTATATTTTTTTTTTTTTTTTTTT	DEFB123	ENSG00000180424.7	transcript	ENST00000376309.4	protein_coding		310		chr20	TogoVar
DEFB1_chr8_6865592_6882936	6870377	AAAAAAAC others(16): Show AAAAAAACCAAAAAAAAAAAAACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	475	0.0021	-23	c.28 others(32): Show c.281_*303delGGTTTTTTTTTTTTTGGTTTTTT	DEFB1	ENSG00000164825.4	transcript	ENST00000297439.4	protein_coding		214		chr8	TogoVar
DEGS2_chr14_100138957_100164645	100152254	AGGAGATG others(16): Show AGGAGATGCCAGGGTGGGCGTCAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA21309.hp1 HG02258.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0030 a0001c0001t0029 a0001c0001t0030	a0001c0001t0029g0131 a0001c0001t0030g0130 a0001c0001t0029g0131 a0001c0001t0030g0130	2	438	0.0046	-23	c.83- others(38): Show c.83-2567_83-2545delATGACGCCCACCCTGGCATCTCC	DEGS2	ENSG00000168350.8	transcript	ENST00000305631.7	protein_coding	1/2			chr14	TogoVar
DENND3_chr8_141123589_141200804	141145824	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02976.hp2 HG03540.hp2 others(3): Show HG01081.hp2 HG02976.hp2 HG03540.hp2 NA19010.hp1 NA19079.hp2 NA19240.hp2	a0002 a0009 a0002 a0009	a0002c0002 a0002c0010 a0002c0053 others(1): Show a0002c0002 a0002c0010 a0002c0053 a0009c0037	a0002c0002t0002 a0002c0002t0003 a0002c0010t0001 others(2): Show a0002c0002t0002 a0002c0002t0003 a0002c0010t0001 a0002c0053t0007 a0009c0037t0004	a0002c0002t0002g0052 a0002c0002t0003g0051 a0002c0010t0001g0275 others(3): Show a0002c0002t0002g0052 a0002c0002t0003g0051 a0002c0010t0001g0275 a0002c0053t0007g0080 a0009c0037t0004g0043 a0009c0037t0004g0044	6	388	0.0155	-23	c.735 others(40): Show c.735+1566_735+1588delATATATATATATATATATATATA	DENND3	ENSG00000105339.11	transcript	ENST00000519811.6	protein_coding	5/22			chr8	TogoVar
DENND3_chr8_141123589_141200804	141145826	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00544.hp2 others(49): Show HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00642.hp1 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02165.hp1 HG02683.hp1 HG02723.hp2 HG03471.hp2 HG03831.hp1 HG04199.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18943.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18979.hp2 NA18980.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19005.hp2 NA19012.hp2 NA19060.hp2 NA19064.hp2 NA19077.hp1 NA19088.hp2	a0002 a0010 a0013 others(1): Show a0002 a0010 a0013 a0019	a0002c0001 a0002c0002 a0002c0010 others(8): Show a0002c0001 a0002c0002 a0002c0010 a0002c0026 a0002c0027 a0002c0032 a0002c0052 a0010c0050 a0010c0051 a0013c0049 a0019c0046	a0002c0001t0001 a0002c0001t0004 a0002c0001t0010 others(14): Show a0002c0001t0001 a0002c0001t0004 a0002c0001t0010 a0002c0002t0002 a0002c0002t0003 a0002c0010t0001 a0002c0010t0004 a0002c0010t0014 a0002c0026t0008 a0002c0027t0002 a0002c0027t0020 a0002c0032t0012 a0002c0052t0001 a0010c0050t0001 a0010c0051t0001 a0013c0049t0002 a0019c0046t0003	a0002c0001t0001g0028 a0002c0001t0001g0029 a0002c0001t0001g0030 others(48): Show a0002c0001t0001g0028 a0002c0001t0001g0029 a0002c0001t0001g0030 a0002c0001t0001g0032 a0002c0001t0001g0033 a0002c0001t0001g0060 a0002c0001t0001g0061 a0002c0001t0001g0063 a0002c0001t0001g0066 a0002c0001t0001g0070 a0002c0001t0001g0071 a0002c0001t0001g0072 a0002c0001t0001g0075 a0002c0001t0001g0076 a0002c0001t0001g0077 a0002c0001t0001g0078 a0002c0001t0001g0083 a0002c0001t0001g0084 a0002c0001t0001g0085 a0002c0001t0001g0104 a0002c0001t0001g0199 a0002c0001t0001g0371 a0002c0001t0004g0018 a0002c0001t0004g0079 a0002c0001t0004g0086 a0002c0001t0004g0087 a0002c0001t0004g0088 a0002c0001t0004g0089 a0002c0001t0010g0067 a0002c0002t0002g0090 a0002c0002t0003g0031 a0002c0002t0003g0065 a0002c0002t0003g0068 a0002c0002t0003g0073 a0002c0002t0003g0074 a0002c0010t0001g0276 a0002c0010t0004g0306 a0002c0010t0014g0278 a0002c0026t0008g0082 a0002c0026t0008g0105 a0002c0026t0008g0106 a0002c0027t0002g0003 a0002c0027t0020g0069 a0002c0032t0012g0222 a0002c0032t0012g0309 a0002c0032t0012g0310 a0002c0052t0001g0064 a0010c0050t0001g0059 a0010c0051t0001g0062 a0013c0049t0002g0195 a0019c0046t0003g0058	52	382	0.1361	-23	c.735 others(40): Show c.735+1568_735+1590delATATATATATATATATATATATA	DENND3	ENSG00000105339.11	transcript	ENST00000519811.6	protein_coding	5/22			chr8	TogoVar
DENND3_chr8_141123589_141200804	141145828	TATATATA others(16): Show TATATATATATATATATATATATG	T T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03491.hp1 HG03654.hp1 others(2): Show HG02132.hp2 HG03491.hp1 HG03654.hp1 NA18972.hp2 NA19009.hp1	a0002 a0002	a0002c0001 a0002c0002 a0002c0015 others(1): Show a0002c0001 a0002c0002 a0002c0015 a0002c0061	a0002c0001t0001 a0002c0001t0004 a0002c0002t0003 others(2): Show a0002c0001t0001 a0002c0001t0004 a0002c0002t0003 a0002c0015t0002 a0002c0061t0001	a0002c0001t0001g0115 a0002c0001t0004g0050 a0002c0002t0003g0026 others(2): Show a0002c0001t0001g0115 a0002c0001t0004g0050 a0002c0002t0003g0026 a0002c0015t0002g0354 a0002c0061t0001g0049	5	384	0.0130	-23	c.735 others(40): Show c.735+1570_735+1592delATATATATATATATATATATATG	DENND3	ENSG00000105339.11	transcript	ENST00000519811.6	protein_coding	5/22			chr8	TogoVar
DENND3_chr8_141123589_141200804	141145830	TATATATA others(16): Show TATATATATATATATATATATGTA	T T	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA19011.hp1 NA18956.hp2 NA19011.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0273 a0002c0010t0001g0274 a0002c0010t0001g0273 a0002c0010t0001g0274	2	385	0.0052	-23	c.735 others(40): Show c.735+1572_735+1594delATATATATATATATATATATGTA	DENND3	ENSG00000105339.11	transcript	ENST00000519811.6	protein_coding	5/22			chr8	TogoVar
DENND4A_chr15_65654123_65797293	65746369	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0095 a0001c0001t0030g0095	1	32	0.0313	-23	c.562 others(40): Show c.562-4608_562-4586delAAAAAAAAAAAAAAAAAAAAAAA	DENND4A	ENSG00000174485.16	transcript	ENST00000443035.8	protein_coding	4/32			chr15	TogoVar
DENND5B_chr12_31377226_31596136	31497813	CGGAGGGG others(16): Show CGGAGGGGGCAGGGAGGGGCAAGG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01361.hp2 HG01884.hp2 others(21): Show HG00738.hp1 HG01361.hp2 HG01884.hp2 HG02145.hp1 HG02257.hp1 HG02486.hp2 HG02615.hp1 HG02683.hp2 HG02965.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03516.hp1 HG03579.hp1 HG03669.hp2 HG06807.hp2 NA18991.hp1 NA19083.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0017 a0001c0001 a0005c0017	a0001c0001t0005 a0001c0001t0010 a0001c0001t0025 others(4): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0025 a0001c0001t0027 a0001c0001t0052 a0001c0001t0056 a0005c0017t0005	a0001c0001t0005g0015 a0001c0001t0005g0016 a0001c0001t0005g0017 others(21): Show a0001c0001t0005g0015 a0001c0001t0005g0016 a0001c0001t0005g0017 a0001c0001t0005g0018 a0001c0001t0005g0020 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0030 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0010g0021 a0001c0001t0025g0002 a0001c0001t0027g0001 a0001c0001t0052g0294 a0001c0001t0056g0302 a0005c0017t0005g0019	24	306	0.0784	-23	c.128 others(40): Show c.128-1917_128-1895delCCTTGCCCCTCCCTGCCCCCTCC	DENND5B	ENSG00000170456.16	transcript	ENST00000389082.10	protein_coding	1/20			chr12	TogoVar
DENND5B_chr12_31377226_31596136	31587526	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02976.hp1 HG03098.hp2 others(4): Show HG02109.hp2 HG02976.hp1 HG03098.hp2 HG03195.hp1 HG03516.hp2 HG03540.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0021 a0001c0001t0028 others(1): Show a0001c0001t0016 a0001c0001t0021 a0001c0001t0028 a0001c0001t0054	a0001c0001t0016g0296 a0001c0001t0016g0297 a0001c0001t0016g0299 others(4): Show a0001c0001t0016g0296 a0001c0001t0016g0297 a0001c0001t0016g0299 a0001c0001t0021g0295 a0001c0001t0021g0298 a0001c0001t0028g0007 a0001c0001t0054g0300	7	21	0.3333	-23	c.127 others(40): Show c.127+3157_127+3179delAAAAAAAAAAAAAAAAAAAAAAA	DENND5B	ENSG00000170456.16	transcript	ENST00000389082.10	protein_coding	1/20			chr12	TogoVar
DEPTOR_chr8_119868722_120055918	119991035	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02738.hp1 HG03017.hp1 others(4): Show HG02559.hp1 HG02738.hp1 HG03017.hp1 HG03041.hp1 HG03486.hp2 HG03669.hp2 HG03704.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0002 a0003c0004 a0007c0013 a0001c0002 a0003c0004 a0007c0013	a0001c0002t0001 a0003c0004t0002 a0007c0013t0019 a0001c0002t0001 a0003c0004t0002 a0007c0013t0019	a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0072 others(4): Show a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0072 a0001c0002t0001g0100 a0001c0002t0001g0101 a0003c0004t0002g0138 a0007c0013t0019g0198	7	138	0.0507	-23	c.605 others(42): Show c.605-10487_605-10465delCTTTCTTTCTTTCTTTCTTTCTT	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DERL3_chr22_23829503_23844006	23834490	GCAACAGG others(16): Show GCAACAGGTCATGTTCAATTTCTT	G G	splice_region_variant others(1): Show splice_region_variant downstream_gene_variant	LOW	HG00733.hp2 HG00735.hp1 HG01099.hp2 others(51): Show HG00733.hp2 HG00735.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01346.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01934.hp2 HG02074.hp2 HG02109.hp2 HG02132.hp2 HG02155.hp2 HG02257.hp1 HG02683.hp2 HG02717.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03453.hp1 HG03654.hp2 HG03688.hp2 HG03831.hp2 HG03942.hp2 NA18612.hp2 NA18906.hp2 NA18949.hp1 NA18956.hp2 NA18962.hp1 NA18983.hp1 NA18999.hp2 NA19001.hp1 NA19030.hp1 NA19068.hp1 NA19079.hp1 NA19089.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0008 a0002c0002t0021 a0002c0002t0031 others(5): Show a0002c0002t0008 a0002c0002t0021 a0002c0002t0031 a0003c0003t0005 a0003c0003t0009 a0003c0003t0014 a0003c0003t0025 a0003c0003t0026	a0002c0002t0008g0009 a0002c0002t0021g0031 a0002c0002t0031g0032 others(7): Show a0002c0002t0008g0009 a0002c0002t0021g0031 a0002c0002t0031g0032 a0003c0003t0005g0005 a0003c0003t0005g0012 a0003c0003t0005g0049 a0003c0003t0009g0014 a0003c0003t0014g0023 a0003c0003t0025g0047 a0003c0003t0026g0048	54	394	0.1371	-23	c.23 others(34): Show c.2356_*2378delAAGAAATTGAACATGACCTGTTG	DERL3	ENSG00000099958.15	transcript	ENST00000318109.12	protein_coding	7/7	12		chr22	TogoVar
DESI2_chr1_244648126_244714033	244699578	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02896.hp1 HG02897.hp1 others(3): Show HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03195.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0327 a0001c0001t0003g0341 others(1): Show a0001c0001t0003g0003 a0001c0001t0003g0327 a0001c0001t0003g0341 a0001c0001t0003g0342	6	28	0.2143	-23	c.352 others(40): Show c.352-5962_352-5940delAAAAAAAAAAAAAAAAAAAAAAA	DESI2	ENSG00000121644.19	transcript	ENST00000302550.16	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
DFFA_chr1_10451522_10477529	10460603	CACTGCAA others(16): Show CACTGCAACTTCTGCCTCCCCGGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0279 a0001c0001t0050g0279	1	436	0.0023	-23	c.86 others(32): Show c.864_*886delACCGGGGAGGCAGAAGTTGCAGT	DFFA	ENSG00000160049.12	transcript	ENST00000377038.8	protein_coding	6/6	864		chr1	TogoVar
DGAT1_chr8_144309584_144331852	144313713	CCGCCTCC others(16): Show CCGCCTCCCCGCCCCGCCTCCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02970.hp2 HG02145.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0016 a0001c0001t0014g0016	2	368	0.0054	-23	c.28 others(34): Show c.2818_*2840delCGGGGAGGCGGGGCGGGGAGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		870		chr8	TogoVar
DGKB_chr7_14140049_14907751	14211639	TATTTACT others(16): Show TATTTACTCTCATGTTTTGTGATA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0147 a0001c0001t0041g0147	1	130	0.0077	-23	c.212 others(44): Show c.2123-33511_2123-33489delTATCACAAAACATGAGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14212003	TATTTACT others(16): Show TATTTACTCTCATGTTTTGTGATA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0137 a0001c0003t0001g0137	1	128	0.0078	-23	c.212 others(44): Show c.2123-33875_2123-33853delTATCACAAAACATGAGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14733735	GAAGAAAG others(16): Show GAAGAAAGAAATAAAGAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp2 HG02723.hp2 others(5): Show HG02145.hp1 HG02280.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02922.hp2 NA18906.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0009 others(1): Show a0001c0002 a0001c0003 a0001c0009 a0002c0005	a0001c0002t0003 a0001c0002t0031 a0001c0003t0003 others(3): Show a0001c0002t0003 a0001c0002t0031 a0001c0003t0003 a0001c0003t0036 a0001c0009t0002 a0002c0005t0011	a0001c0002t0003g0001 a0001c0002t0003g0069 a0001c0002t0003g0081 others(5): Show a0001c0002t0003g0001 a0001c0002t0003g0069 a0001c0002t0003g0081 a0001c0002t0031g0008 a0001c0003t0003g0056 a0001c0003t0036g0050 a0001c0009t0002g0082 a0002c0005t0011g0079	8	60	0.1333	-23	c.322 others(40): Show c.322+2283_322+2305delTCTTTCTTCTTTATTTCTTTCTT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	5/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14845635	AATGAATA others(16): Show AATGAATATTTCTTGAATGAATTC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG00597.hp1 others(80): Show HG00280.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01515.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02135.hp1 HG02165.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18951.hp1 NA18960.hp1 NA18960.hp2 NA18984.hp1 NA18984.hp2 NA19002.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19062.hp1 NA19081.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0002c0005 a0002c0007 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0021 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0009 a0001c0002t0012 a0001c0002t0029 a0001c0002t0030 a0001c0002t0031 a0001c0002t0034 a0001c0002t0038 a0001c0002t0040 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0008 a0001c0003t0009 a0001c0003t0013 a0001c0003t0035 a0001c0003t0037 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0005 a0001c0004t0027 a0001c0006t0004 a0001c0006t0008 a0001c0006t0019 a0001c0008t0003 a0001c0009t0002 a0001c0009t0009 a0001c0012t0003 a0001c0013t0017 a0001c0014t0001 a0001c0015t0032 a0001c0016t0001 a0001c0017t0024 a0002c0005t0011 a0002c0007t0006 a0003c0011t0002	a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0001g0045 others(80): Show a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0106 a0001c0001t0001g0130 a0001c0001t0001g0135 a0001c0001t0002g0025 a0001c0001t0002g0036 a0001c0001t0002g0041 a0001c0001t0002g0048 a0001c0001t0002g0107 a0001c0001t0002g0112 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0143 a0001c0001t0007g0133 a0001c0001t0008g0124 a0001c0001t0016g0042 a0001c0001t0021g0029 a0001c0002t0001g0017 a0001c0002t0001g0033 a0001c0002t0001g0070 a0001c0002t0002g0065 a0001c0002t0002g0074 a0001c0002t0002g0129 a0001c0002t0002g0138 a0001c0002t0003g0001 a0001c0002t0003g0003 a0001c0002t0003g0081 a0001c0002t0003g0136 a0001c0002t0004g0088 a0001c0002t0009g0064 a0001c0002t0012g0046 a0001c0002t0012g0121 a0001c0002t0029g0002 a0001c0002t0030g0092 a0001c0002t0031g0008 a0001c0002t0034g0014 a0001c0002t0038g0093 a0001c0002t0040g0068 a0001c0003t0001g0006 a0001c0003t0001g0137 a0001c0003t0002g0028 a0001c0003t0003g0056 a0001c0003t0003g0094 a0001c0003t0004g0012 a0001c0003t0005g0016 a0001c0003t0005g0125 a0001c0003t0005g0131 a0001c0003t0008g0011 a0001c0003t0009g0004 a0001c0003t0013g0066 a0001c0003t0035g0127 a0001c0003t0037g0005 a0001c0004t0001g0032 a0001c0004t0001g0035 a0001c0004t0001g0039 a0001c0004t0001g0071 a0001c0004t0001g0103 a0001c0004t0002g0113 a0001c0004t0002g0132 a0001c0004t0002g0134 a0001c0004t0003g0067 a0001c0004t0005g0023 a0001c0004t0027g0059 a0001c0006t0004g0145 a0001c0006t0008g0080 a0001c0006t0019g0144 a0001c0008t0003g0077 a0001c0008t0003g0078 a0001c0009t0002g0082 a0001c0009t0009g0126 a0001c0012t0003g0015 a0001c0013t0017g0084 a0001c0014t0001g0018 a0001c0015t0032g0019 a0001c0016t0001g0038 a0001c0017t0024g0146 a0002c0005t0011g0079 a0002c0007t0006g0030 a0002c0007t0006g0040 a0003c0011t0002g0111	83	146	0.5685	-23	c.-18 others(42): Show c.-187-4208_-187-4186delGAATTCATTCAAGAAATATTCAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	1/25			chr7	TogoVar
DGKG_chr3_186142201_186367234	186225353	GGAGATCA others(16): Show GGAGATCAGTTCACATTTATAGCA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA20129.hp1 NA21309.hp1 HG00735.hp1 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0020 a0001c0002 a0001c0020	a0001c0002t0003 a0001c0002t0008 a0001c0020t0003 a0001c0002t0003 a0001c0002t0008 a0001c0020t0003	a0001c0002t0003g0201 a0001c0002t0008g0226 a0001c0020t0003g0221 a0001c0002t0003g0201 a0001c0002t0008g0226 a0001c0020t0003g0221	3	232	0.0129	-23	c.182 others(44): Show c.1827-13491_1827-13469delTGCTATAAATGTGAACTGATCTC	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	20/24			chr3	TogoVar
DGKG_chr3_186142201_186367234	186312122	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0005 a0004c0008t0005	a0004c0008t0005g0037 a0004c0008t0005g0037	1	43	0.0233	-23	c.68- others(38): Show c.68-5168_68-5146delTTTTTTTTTTTTTTTTTTTTTTT	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	2/24			chr3	TogoVar
DGKI_chr7_137376037_137851974	137517256	GAAAGAAA others(16): Show GAAAGAAAGAAAGAAAGAAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01261.hp1 HG02145.hp2 others(13): Show HG01099.hp2 HG01261.hp1 HG02145.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03486.hp1 HG03540.hp2 NA18522.hp1 NA18992.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0023 a0002c0020	a0001c0001t0007 a0001c0002t0003 a0001c0002t0014 others(10): Show a0001c0001t0007 a0001c0002t0003 a0001c0002t0014 a0001c0002t0020 a0001c0002t0034 a0001c0003t0006 a0001c0003t0023 a0001c0003t0047 a0001c0004t0003 a0001c0004t0048 a0001c0008t0011 a0001c0023t0009 a0002c0020t0001	a0001c0001t0007g0060 a0001c0001t0007g0061 a0001c0002t0003g0092 others(13): Show a0001c0001t0007g0060 a0001c0001t0007g0061 a0001c0002t0003g0092 a0001c0002t0014g0042 a0001c0002t0020g0007 a0001c0002t0034g0009 a0001c0003t0006g0033 a0001c0003t0006g0048 a0001c0003t0006g0057 a0001c0003t0023g0021 a0001c0003t0047g0094 a0001c0004t0003g0089 a0001c0004t0048g0079 a0001c0008t0011g0093 a0001c0023t0009g0015 a0002c0020t0001g0034	16	92	0.1739	-23	c.224 others(42): Show c.2248+4587_2248+4609delTTCTTTTCTTTCTTTCTTTCTTT	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	21/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137569728	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0045 a0001c0011t0001g0045	1	5	0.2000	-23	c.194 others(42): Show c.1947+1424_1947+1446delTTTTTTTTTTTTTTTTTTTTTTT	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	19/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137809076	GATACAGC others(16): Show GATACAGCTAACATGAGTGAGAAC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02976.hp2 HG03041.hp2 HG02486.hp1 HG02976.hp2 HG03041.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0006 a0002c0020 a0001c0003 a0001c0006 a0002c0020	a0001c0003t0006 a0001c0006t0002 a0002c0020t0001 a0001c0003t0006 a0001c0006t0002 a0002c0020t0001	a0001c0003t0006g0033 a0001c0006t0002g0035 a0002c0020t0001g0034 a0001c0003t0006g0033 a0001c0006t0002g0035 a0002c0020t0001g0034	3	92	0.0326	-23	c.401 others(42): Show c.401+37363_401+37385delGTTCTCACTCATGTTAGCTGTAT	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	1/32			chr7	TogoVar
DGUOK_chr2_73921880_73963946	73959234	AACCATTA others(16): Show AACCATTAGATCTTTTGAGAGCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 NA18522.hp1 HG02280.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0208 a0001c0001t0001g0151 a0001c0001t0001g0208	2	350	0.0057	-23	c.49 others(32): Show c.499_*521delACCATTAGATCTTTTGAGAGCTC	DGUOK	ENSG00000114956.20	transcript	ENST00000264093.9	protein_coding		289		chr2	TogoVar
DHCR7_chr11_71429411_71453393	71448261	CCTCACCT others(16): Show CCTCACCTGCGCACACCTTGGCCA	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02622.hp1 NA21309.hp1 HG02622.hp1 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0007 a0005c0013 a0001c0007 a0005c0013	a0001c0007t0007 a0005c0013t0011 a0001c0007t0007 a0005c0013t0011	a0001c0007t0007g0097 a0005c0013t0011g0096 a0001c0007t0007g0097 a0005c0013t0011g0096	2	408	0.0049	-23	c.-13 others(37): Show c.-132+6_-132+28delTGGCCAAGGTGTGCGCAGGTGAG	DHCR7	ENSG00000172893.18	transcript	ENST00000355527.8	protein_coding	1/8			chr11	TogoVar
DHODH_chr16_72003744_72032659	72020348	TATATATG others(16): Show TATATATGTGTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02451.hp1 HG01069.hp2 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0030 a0002c0002t0002 a0002c0002t0030	a0002c0002t0002g0146 a0002c0002t0030g0110 a0002c0002t0002g0146 a0002c0002t0030g0110	2	389	0.0051	-23	c.518 others(38): Show c.518-775_518-753delATATATGTGTATATATATATATA	DHODH	ENSG00000102967.12	transcript	ENST00000219240.9	protein_coding	4/8			chr16	TogoVar
DHRS2_chr14_23631364_23650639	23638235	AGGAGGAA others(16): Show AGGAGGAATGAACAACTCCGGACG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0025 a0004c0009t0025	a0004c0009t0025g0028 a0004c0009t0025g0028	1	444	0.0023	-23	c.-38 others(38): Show c.-38-570_-38-548delCGGGAGGAATGAACAACTCCGGA	DHRS2	ENSG00000100867.15	transcript	ENST00000250383.11	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
DHRS3_chr1_12562910_12623210	12586962	GCACTGCC others(16): Show GCACTGCCTCTGATACACCCTCTT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp2 HG02922.hp2 others(3): Show HG02145.hp2 HG02257.hp2 HG02922.hp2 HG02970.hp2 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0012 a0001c0001t0026 a0001c0001t0050 others(3): Show a0001c0001t0012 a0001c0001t0026 a0001c0001t0050 a0001c0002t0007 a0001c0003t0013 a0001c0007t0068	a0001c0001t0012g0257 a0001c0001t0026g0180 a0001c0001t0050g0016 others(3): Show a0001c0001t0012g0257 a0001c0001t0026g0180 a0001c0001t0050g0016 a0001c0002t0007g0276 a0001c0003t0013g0354 a0001c0007t0068g0209	6	374	0.0160	-23	c.196 others(40): Show c.196-6319_196-6297delAAGAGGGTGTATCAGAGGCAGTG	DHRS3	ENSG00000162496.9	transcript	ENST00000616661.5	protein_coding	1/5			chr1	TogoVar
DHRS9_chr2_169064563_169101167	169079919	GGGAGAGA others(16): Show GGGAGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	385	0.0026	-23	c.-59 others(40): Show c.-59-1602_-59-1580delGAGAGAGAGAGAGAGAGAGAGAG	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHX34_chr19_47344315_47387704	47384325	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01069.hp2 HG01071.hp2 others(2): Show HG00741.hp1 HG01069.hp2 HG01071.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0014 a0001c0001 a0002c0014	a0001c0001t0002 a0002c0014t0001 a0001c0001t0002 a0002c0014t0001	a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0217 others(2): Show a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0217 a0002c0014t0001g0272 a0002c0014t0001g0273	5	17	0.2941	-23	c.22 others(34): Show c.2213_*2235delTTTTTTTTTTTTTTTTTTTTTTT	DHX34	ENSG00000134815.19	transcript	ENST00000328771.9	protein_coding		1622		chr19	TogoVar
DHX36_chr3_154267546_154329487	154310805	AAATATAT others(16): Show AAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0177	1	355	0.0028	-23	c.642 others(38): Show c.642+808_642+830delATATATATATATATATATATATT	DHX36	ENSG00000174953.14	transcript	ENST00000496811.6	protein_coding	4/24			chr3	TogoVar
DHX37_chr12_124941826_124994131	124959740	ACATCCAG others(16): Show ACATCCAGAAAAATCAGTGAGCAC	A A	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0312 a0002c0004t0002g0312	1	368	0.0027	-23	c.215 others(40): Show c.2157+549_2157+571delGTGCTCACTGATTTTTCTGGATG	DHX37	ENSG00000150990.9	transcript	ENST00000308736.7	protein_coding	16/26			chr12	TogoVar
DIABLO_chr12_122202668_122231052	122211077	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	94	0.0106	-23	c.524 others(40): Show c.524-2523_524-2501delTTTTTTTTTTTTTTTTTTTTTTT	DIABLO	ENSG00000184047.21	transcript	ENST00000464942.7	protein_coding	5/5			chr12	TogoVar
DIABLO_chr12_122202668_122231052	122213602	CCTCCTTT others(16): Show CCTCCTTTTCTCCTTCTAGATATT	C C	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	378	0.0026	-23	c.523 others(40): Show c.523+2863_523+2885delAATATCTAGAAGGAGAAAAGGAG	DIABLO	ENSG00000184047.21	transcript	ENST00000464942.7	protein_coding	5/5			chr12	TogoVar
DIAPH2_chrX_96679842_97609997	96807944	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03471.hp1 NA21309.hp2 HG02280.hp2 HG03471.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0001t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0141 a0001c0003t0001g0116 a0001c0004t0001g0142 a0001c0001t0001g0141 a0001c0003t0001g0116 a0001c0004t0001g0142	3	37	0.0811	-23	c.447 others(42): Show c.447+49703_447+49725delAAAAAAAAAAAAAAAAAAAAAAA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	4/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIDO1_chr20_62872743_62931505	62875146	TAGGGCTT others(16): Show TAGGGCTTGGAGGTCACCCCTTCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	318	0.0031	-23	c.40 others(34): Show c.4064_*4086delTGAAGGGGTGACCTCCAAGCCCT	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2596		chr20	TogoVar
DIO3_chr14_101556495_101568452	101556867	GCCATGTT others(16): Show GCCATGTTGAGGACACCGCTCAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	384	0.0026	-23	c.-46 others(34): Show c.-4629_-4607delCCATGTTGAGGACACCGCTCAGA	DIO3	ENSG00000197406.8	transcript	ENST00000510508.5	protein_coding		4627		chr14	TogoVar
DIP2A_chr21_46453891_46575015	46528527	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0081 a0001c0004t0002g0081	1	45	0.0222	-23	c.110 others(40): Show c.1103-546_1103-524delTTTTTTTTTTTTTTTTTTTTTTT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	8/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46573645	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00738.hp2 HG00741.hp2 others(67): Show HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01256.hp2 HG01261.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02155.hp2 HG02165.hp1 HG02615.hp1 HG02735.hp2 HG03139.hp2 HG03490.hp2 HG03492.hp1 HG03669.hp2 HG03834.hp1 HG03927.hp1 HG04199.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18943.hp1 NA18949.hp2 NA18951.hp1 NA18953.hp1 NA18956.hp1 NA18961.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18987.hp1 NA18993.hp1 NA18994.hp1 NA18998.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19089.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0003 a0001c0005 others(9): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0001c0021 a0001c0029 a0001c0041 a0001c0042 a0001c0043 a0001c0045 a0002c0019 a0008c0044	a0001c0001t0002 a0001c0003t0001 a0001c0003t0003 others(13): Show a0001c0001t0002 a0001c0003t0001 a0001c0003t0003 a0001c0003t0019 a0001c0003t0024 a0001c0005t0020 a0001c0005t0027 a0001c0010t0003 a0001c0021t0001 a0001c0029t0001 a0001c0041t0003 a0001c0042t0003 a0001c0043t0003 a0001c0045t0003 a0002c0019t0006 a0008c0044t0003	a0001c0001t0002g0088 a0001c0003t0001g0327 a0001c0003t0003g0124 others(67): Show a0001c0001t0002g0088 a0001c0003t0001g0327 a0001c0003t0003g0124 a0001c0003t0003g0290 a0001c0003t0003g0291 a0001c0003t0003g0293 a0001c0003t0003g0294 a0001c0003t0003g0296 a0001c0003t0003g0297 a0001c0003t0003g0299 a0001c0003t0003g0300 a0001c0003t0003g0301 a0001c0003t0003g0304 a0001c0003t0003g0305 a0001c0003t0003g0306 a0001c0003t0003g0308 a0001c0003t0003g0309 a0001c0003t0003g0310 a0001c0003t0003g0311 a0001c0003t0003g0314 a0001c0003t0003g0319 a0001c0003t0003g0320 a0001c0003t0003g0328 a0001c0003t0003g0329 a0001c0003t0003g0330 a0001c0003t0003g0331 a0001c0003t0003g0332 a0001c0003t0003g0333 a0001c0003t0003g0334 a0001c0003t0003g0335 a0001c0003t0003g0336 a0001c0003t0003g0338 a0001c0003t0003g0339 a0001c0003t0003g0341 a0001c0003t0003g0343 a0001c0003t0003g0344 a0001c0003t0003g0346 a0001c0003t0003g0349 a0001c0003t0003g0350 a0001c0003t0003g0351 a0001c0003t0003g0352 a0001c0003t0003g0353 a0001c0003t0003g0354 a0001c0003t0003g0355 a0001c0003t0003g0357 a0001c0003t0003g0358 a0001c0003t0003g0359 a0001c0003t0003g0360 a0001c0003t0003g0361 a0001c0003t0003g0362 a0001c0003t0003g0363 a0001c0003t0003g0364 a0001c0003t0003g0365 a0001c0003t0003g0366 a0001c0003t0019g0302 a0001c0003t0024g0307 a0001c0005t0020g0273 a0001c0005t0020g0274 a0001c0005t0027g0275 a0001c0010t0003g0303 a0001c0010t0003g0321 a0001c0021t0001g0122 a0001c0021t0001g0123 a0001c0029t0001g0266 a0001c0041t0003g0289 a0001c0042t0003g0313 a0001c0043t0003g0373 a0001c0045t0003g0317 a0002c0019t0006g0185 a0008c0044t0003g0315	70	118	0.5932	-23	c.60 others(34): Show c.6024_*6046delAAAAAAAAAAAAAAAAAAAAAAA	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding		3631		chr21	TogoVar
DIP2B_chr12_50499985_50753657	50579643	AAATATAT others(16): Show AAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 NA19007.hp1 HG00733.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0123 a0001c0002t0003g0126 a0001c0001t0001g0123 a0001c0002t0003g0126	2	261	0.0077	-23	c.101 others(42): Show c.101-46331_101-46309delATATATATATATATATATATATA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50664830	GTTTTTGT others(16): Show GTTTTTGTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0049 a0001c0003t0002g0049	1	8	0.1250	-23	c.427 others(40): Show c.427+4517_427+4539delGTTTTTTTTTTTTTTTTTTTTTT	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	429206	TCCCCCCG others(16): Show TCCCCCCGGACCCTGGCTGCCTCC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0086 a0001c0004t0001g0086	1	68	0.0147	-23	c.395 others(40): Show c.395-6196_395-6174delGGAGGCAGCCAGGGTCCGGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar

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