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
CTNNA2_chr2_79508051_80653780	80075574	TAATATTT others(41): Show TAATATTTATACATGTATAAATATAAATATTTATACATGTATAAATATA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02572.hp2 others(2): Show HG02109.hp1 HG02257.hp2 HG02572.hp2 HG02809.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0002t0003 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0003 a0001c0004t0001 a0001c0007t0001	a0001c0001t0001g0042 a0001c0001t0001g0055 a0001c0002t0003g0036 others(2): Show a0001c0001t0001g0042 a0001c0001t0001g0055 a0001c0002t0003g0036 a0001c0004t0001g0021 a0001c0007t0001g0068	5	61	0.0820	-48	c.105 others(71): Show c.1056+165801_1056+165848delAAATATTTATACATGTATAAAT ATAAATATTTATACATGTATAAATAT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNBL1_chr20_37689030_37877118	37718241	CCCCCCCA others(41): Show CCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02293.hp1 NA18982.hp1 HG01943.hp2 HG02293.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008	3	264	0.0114	-48	c.31- others(65): Show c.31-14631_31-14584delACCTCCCTCCCGGACGGGGTGGCTGGCC GGGCGGGGGGCTGACCCCCC	CTNNBL1	ENSG00000132792.21	transcript	ENST00000361383.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CTNND2_chr5_10966836_11909446	11623789	AATATATA others(41): Show AATATATATATGTGTGTATGTATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0025 a0001c0006t0002g0025	1	23	0.0435	-48	c.175 others(67): Show c.175-58781_175-58734delATATATATATATATATATATATATAT ATACATACACACATATATATAT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	2/21			chr5	TogoVar
CTSS_chr1_150725188_150770778	150728986	CCCCCCCA others(41): Show CCCCCCCACCTGCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01515.hp2 HG02015.hp1 HG00280.hp1 HG01515.hp2 HG02015.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0003c0003t0001 a0001c0001t0003 a0003c0003t0001	a0001c0001t0003g0217 a0001c0001t0003g0224 a0003c0003t0001g0016 a0001c0001t0003g0217 a0001c0001t0003g0224 a0003c0003t0001g0016	3	342	0.0088	-48	c.40 others(59): Show c.4012_*4059delTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGG AGGCAGGTGGGGGG	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding		1201		chr1	TogoVar
CTSS_chr1_150725188_150770778	150744102	ATTATATA others(41): Show ATTATATATTATATGTATATTATGTATACATAATATGTACACATAATAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01071.hp2 others(12): Show HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01943.hp1 HG02273.hp2 HG03017.hp2 HG03209.hp1 HG03834.hp1 NA18948.hp1 NA18962.hp1 NA18964.hp1 NA18979.hp1 NA18999.hp2 NA19002.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0014 a0001c0001t0001 a0001c0001t0011 a0001c0001t0014	a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0028 others(6): Show a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0150 a0001c0001t0001g0179 a0001c0001t0011g0164 a0001c0001t0014g0242	15	339	0.0442	-48	c.896 others(65): Show c.896+3627_896+3674delATATTATGTGTACATATTATGTATACAT AATATACATATAATATATAA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTTN_chr11_70393529_70441575	70411360	TGTGTTCA others(41): Show TGTGTTCAGTGCAGCGAGCGAAGCGTGTGCACACGGACAGACGGAATCC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	320	0.0031	-48	c.291 others(65): Show c.291+1449_291+1496delGTGTTCAGTGCAGCGAGCGAAGCGTGTG CACACGGACAGACGGAATCC	CTTN	ENSG00000085733.16	transcript	ENST00000301843.13	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
CWC27_chr5_64763930_65023750	64796749	CTCCCTCC others(41): Show CTCCCTCCCTCCCTCCCTCCCTCCTTTTCCTTCTTCCTTCCTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp2 HG03453.hp1 others(1): Show HG02055.hp2 HG02257.hp2 HG03453.hp1 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0002 a0002c0002t0001 a0002c0002t0002 a0001c0005t0002 a0002c0002t0001 a0002c0002t0002	a0001c0005t0002g0100 a0002c0002t0001g0242 a0002c0002t0002g0030 others(1): Show a0001c0005t0002g0100 a0002c0002t0001g0242 a0002c0002t0002g0030 a0002c0002t0002g0107	4	258	0.0155	-48	c.670 others(65): Show c.670-3479_670-3432delCTCCTTTTCCTTCTTCCTTCCTTCCTTC TTCCCTCCCTCCCTCCCTCC	CWC27	ENSG00000153015.17	transcript	ENST00000381070.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
CWF19L2_chr11_107321360_107462825	107442760	AAGGAAGG others(41): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03471.hp1 HG02895.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0310 a0001c0001t0006g0312 a0001c0001t0006g0310 a0001c0001t0006g0312	2	390	0.0051	-48	c.450 others(63): Show c.450+131_450+178delCCCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCT	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	4/17			chr11	TogoVar
CYB5R1_chr1_202956873_202972257	202961637	CCCTCTAA others(41): Show CCCTCTAATGTGTGTTCTCCTTCCCCCACCTCGAGAGCCTCCAGGGAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0051 a0002c0012t0001g0051	1	448	0.0022	-48	c.84 others(57): Show c.842_*889delTCTCCCTGGAGGCTCTCGAGGTGGGGGAAGGAGAAC ACACATTAGAGG	CYB5R1	ENSG00000159348.13	transcript	ENST00000367249.9	protein_coding		235		chr1	TogoVar
CYBC1_chr17_82437586_82455752	82443764	GGCCACGG others(41): Show GGCCACGGGTCCTGTGGGCGGTGCACGGGCTCAGGCACACCGGGAATGT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp1 HG01081.hp1 HG01243.hp2 others(28): Show HG00738.hp1 HG01081.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01433.hp2 HG01884.hp1 HG01928.hp2 HG01952.hp1 HG02055.hp1 HG02109.hp1 HG02258.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03579.hp2 HG03669.hp2 NA18522.hp2 NA18906.hp1 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 others(4): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0002t0011	a0001c0001t0005g0011 a0001c0001t0005g0019 a0001c0001t0005g0046 others(18): Show a0001c0001t0005g0011 a0001c0001t0005g0019 a0001c0001t0005g0046 a0001c0001t0005g0054 a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0007g0015 a0001c0001t0007g0024 a0001c0001t0007g0040 a0001c0001t0007g0041 a0001c0001t0007g0042 a0001c0001t0007g0083 a0001c0001t0008g0028 a0001c0001t0008g0062 a0001c0001t0008g0063 a0001c0001t0008g0064 a0001c0001t0011g0032 a0001c0001t0011g0078 a0001c0001t0017g0059 a0001c0001t0018g0056 a0001c0002t0011g0080	31	297	0.1044	-48	c.19 others(57): Show c.192_*239delACATTCCCGGTGTGCCTGAGCCCGTGCACCGCCCAC AGGACCCGTGGC	CYBC1	ENSG00000178927.19	transcript	ENST00000306645.10	protein_coding	7/7	192		chr17	TogoVar
CYBC1_chr17_82437586_82455752	82443913	CGGGTCCT others(41): Show CGGGTCCTGTGGGCGGTGCACGGGCTCAGGCACACCGGGAATGTGCCAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0057 a0001c0001t0023g0057	1	414	0.0024	-48	c.43 others(55): Show c.43_*90delATGGCACATTCCCGGTGTGCCTGAGCCCGTGCACCGCC CACAGGACCC	CYBC1	ENSG00000178927.19	transcript	ENST00000306645.10	protein_coding	7/7	43		chr17	TogoVar
CYP11A1_chr15_74332762_74372646	74334473	ACCAGGGT others(41): Show ACCAGGGTTAGGGTTCAGTATACAACCAGGGTCAGGGTTCAGTGTGCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02717.hp1 others(3): Show HG01891.hp2 HG02145.hp2 HG02717.hp1 HG02922.hp1 HG03225.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0171 a0001c0001t0001g0178 others(2): Show a0001c0001t0001g0043 a0001c0001t0001g0171 a0001c0001t0001g0178 a0001c0001t0001g0197 a0001c0001t0001g0198	6	378	0.0159	-48	c.34 others(59): Show c.3451_*3498delCTGCACACTGAACCCTGACCCTGGTTGTATACTG AACCCTAACCCTGG	CYP11A1	ENSG00000140459.18	transcript	ENST00000268053.11	protein_coding		3288		chr15	TogoVar
CYP11A1_chr15_74332762_74372646	74370609	CAGGCTCC others(41): Show CAGGCTCCATCTTCCTGCTTCACCACGAAGACATTTGGTTGGCATTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	378	0.0026	-48	c.-30 others(59): Show c.-3072_-3025delAGAAATGCCAACCAAATGTCTTCGTGGTGAAGCA GGAAGATGGAGCCT	CYP11A1	ENSG00000140459.18	transcript	ENST00000268053.11	protein_coding		2964		chr15	TogoVar
CYP2A7_chr19_40870439_40887231	40880763	CAGGACAG others(41): Show CAGGACAGGTGCAAACTCAGTCAGAGAAACACGAGGGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG01070.hp2 others(35): Show HG00140.hp2 HG00642.hp1 HG01070.hp2 HG01516.hp2 HG01884.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG02056.hp1 HG02071.hp2 HG02132.hp1 HG02293.hp1 HG02738.hp1 HG02970.hp1 HG03017.hp1 HG03139.hp1 HG03225.hp2 HG03453.hp2 HG03516.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18962.hp2 NA18964.hp2 NA18969.hp1 NA18971.hp1 NA19002.hp1 NA19054.hp2 NA19055.hp1 NA19065.hp2 NA19067.hp1 NA19072.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0001 a0002c0008 a0002c0038 others(4): Show a0001c0001 a0002c0008 a0002c0038 a0006c0010 a0006c0021 a0006c0022 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0002c0008t0001 a0002c0038t0007 a0006c0010t0001 a0006c0021t0007 a0006c0022t0002 a0008c0007t0003	a0001c0001t0001g0003 a0001c0001t0002g0001 a0001c0001t0002g0029 others(14): Show a0001c0001t0001g0003 a0001c0001t0002g0001 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0083 a0001c0001t0005g0020 a0001c0001t0005g0066 a0001c0001t0006g0019 a0002c0008t0001g0047 a0002c0038t0007g0048 a0006c0010t0001g0007 a0006c0021t0007g0163 a0006c0022t0002g0028 a0008c0007t0003g0004	38	203	0.1872	-48	c.344 others(63): Show c.344-183_344-136delCTCTCTCTCTCTCCCTCGTGTTTCTCTGAC TGAGTTTGCACCTGTCCT	CYP2A7	ENSG00000198077.11	transcript	ENST00000301146.9	protein_coding	2/8			chr19	TogoVar
CYP39A1_chr6_46544580_46657818	46564090	TTTTATTT others(41): Show TTTTATTTTGTATTTTTTTTATTTTATTCTATTTTATTCTATTTTATTC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA21309.hp1 NA19043.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0187 a0001c0001t0005g0271 a0001c0001t0003g0187 a0001c0001t0005g0271	2	278	0.0072	-48	c.125 others(69): Show c.1251-10284_1251-10237delGAATAAAATAGAATAAAATAGAAT AAAATAAAAAAAATACAAAATAAA	CYP39A1	ENSG00000146233.8	transcript	ENST00000275016.3	protein_coding	10/11			chr6	TogoVar
CYP7B1_chr8_64585851_64803737	64685875	GGGGGGGT others(41): Show GGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0101 a0001c0001t0006g0101	1	256	0.0039	-48	c.123 others(67): Show c.123-61384_123-61337delACCTCCCTCCCGGACGGCACGGCTGG CCAGGCGGGGGGCTGACCCCCC	CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5			chr8	TogoVar
CYP7B1_chr8_64585851_64803737	64686406	GGGGGGTC others(41): Show GGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	256	0.0039	-48	c.123 others(67): Show c.123-61915_123-61868delAACCTCCCTCCCGGACGGGGCGGCTG GCCAGGCGGGGGGCTGACCCCC	CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5			chr8	TogoVar
CYTH1_chr17_78669048_78787273	78760384	TACACACA others(41): Show TACACACACATACATATATATATGTGTATATATATATATATACACATAC	T T	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18998.hp1 NA18942.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0045 a0001c0001t0005g0003 a0001c0001t0005g0045	2	208	0.0096	-48	c.22+ others(65): Show c.22+21770_22+21817delGTATGTGTATATATATATATATACACAT ATATATATGTATGTGTGTGT	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13			chr17	TogoVar
DACT2_chr6_168301904_168324777	168321859	TCCTCTCC others(41): Show TCCTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01069.hp1 HG01358.hp1 others(15): Show HG00639.hp2 HG01069.hp1 HG01358.hp1 HG02074.hp2 HG02155.hp1 HG02165.hp1 HG02683.hp1 HG02735.hp2 HG02896.hp2 HG02897.hp1 HG03017.hp2 HG03516.hp1 HG03540.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp2 NA18940.hp2 NA18961.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0025 a0002c0003 others(3): Show a0001c0001 a0001c0025 a0002c0003 a0002c0009 a0003c0004 a0005c0007	a0001c0001t0002 a0001c0025t0002 a0002c0003t0003 others(4): Show a0001c0001t0002 a0001c0025t0002 a0002c0003t0003 a0002c0003t0010 a0002c0009t0007 a0003c0004t0004 a0005c0007t0004	a0001c0001t0002g0127 a0001c0001t0002g0143 a0001c0001t0002g0162 others(11): Show a0001c0001t0002g0127 a0001c0001t0002g0143 a0001c0001t0002g0162 a0001c0001t0002g0165 a0001c0025t0002g0161 a0002c0003t0003g0030 a0002c0003t0003g0176 a0002c0003t0010g0136 a0002c0009t0007g0177 a0003c0004t0004g0027 a0003c0004t0004g0149 a0003c0004t0004g0179 a0005c0007t0004g0041 a0005c0007t0004g0132	18	173	0.1040	-48	c.-22 others(59): Show c.-2274_-2227delGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAGG	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding		2083		chr6	TogoVar
DCAF13_chr8_103410386_103448453	103447847	TACACACA others(41): Show TACACACACACACACACACACACACACACACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(106): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp2 HG02004.hp1 HG02129.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG03098.hp2 HG03453.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03688.hp2 HG03831.hp1 HG03942.hp2 HG04199.hp2 HG04228.hp1 NA18941.hp1 NA18943.hp1 NA18947.hp2 NA18951.hp1 NA18955.hp2 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18980.hp2 NA18983.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19006.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19075.hp1 NA19076.hp1 NA19077.hp1 NA19078.hp1 NA19081.hp1 NA19082.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0003 a0003c0008 a0002c0002 a0002c0003 a0003c0008	a0002c0002t0001 a0002c0002t0003 a0002c0003t0001 others(1): Show a0002c0002t0001 a0002c0002t0003 a0002c0003t0001 a0003c0008t0001	a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 others(71): Show a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0008 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0003g0014 a0002c0003t0001g0054 a0002c0003t0001g0059 a0002c0003t0001g0204 a0002c0003t0001g0205 a0002c0003t0001g0206 a0002c0003t0001g0207 a0003c0008t0001g0003	109	118	0.9237	-48	c.49 others(59): Show c.4966_*5013delACACACACACACACACACACACACACACACACAC ACACACACACACAC	DCAF13	ENSG00000164934.15	transcript	ENST00000612750.5	protein_coding		4395		chr8	TogoVar
DCBLD2_chr3_98790941_98906695	98837192	GGGGGCCG others(41): Show GGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02602.hp1 HG02738.hp2 others(4): Show HG00621.hp1 HG02602.hp1 HG02738.hp2 HG03831.hp2 NA18967.hp2 NA18977.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0188 a0001c0001t0001g0205 others(4): Show a0001c0001t0001g0176 a0001c0001t0001g0188 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0233 a0001c0001t0001g0240 a0001c0001t0001g0257	7	328	0.0213	-48	c.572 others(67): Show c.572-11874_572-11827delTGCCCGGCCAGCCACCCCGTCCGGGA GGGAGGTGGGGGTGTCGGCCCC	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar
DCBLD2_chr3_98790941_98906695	98837202	ACCCCCAC others(41): Show ACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGGGGGCCGAC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	100	0.0100	-48	c.572 others(67): Show c.572-11884_572-11837delGTCGGCCCCCTGCCCGGCCAGCCACC CCGTCCGGGAGGGAGGTGGGGG	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar
DCBLD2_chr3_98790941_98906695	98837252	CCCCCACC others(41): Show CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0008 a0008	a0008c0022 a0008c0022	a0008c0022t0001 a0008c0022t0001	a0008c0022t0001g0320 a0008c0022t0001g0320	1	328	0.0030	-48	c.572 others(67): Show c.572-11934_572-11887delTGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGG	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar
DCC_chr18_52335197_53540899	53047264	ATATATAT others(41): Show ATATATATATATATATATATATATAATTTTATATATATATATATAATTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03209.hp2 HG03225.hp1 HG00738.hp2 HG03209.hp2 HG03225.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0002 a0002c0004 a0009c0019 a0001c0002 a0002c0004 a0009c0019	a0001c0002t0001 a0002c0004t0003 a0009c0019t0005 a0001c0002t0001 a0002c0004t0003 a0009c0019t0005	a0001c0002t0001g0029 a0002c0004t0003g0023 a0009c0019t0005g0014 a0001c0002t0001g0029 a0002c0004t0003g0023 a0009c0019t0005g0014	3	113	0.0265	-48	c.986 others(67): Show c.986-16028_986-15981delTATATATATATAATTTTATATATATA TATATAATTTTATATATATATA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53086039	TCTCCCTC others(41): Show TCTCCCTCTCCTTCTCCTTCTCCTTCTCCCTCTCCTCCTCCTCCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	106	0.0094	-48	c.126 others(69): Show c.1261+19878_1261+19925delCTCTCCTTCTCCTTCTCCTTCTCC CTCTCCTCCTCCTCCTCCTCCTCC	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53086063	TCTCCCTC others(41): Show TCTCCCTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0089 a0002c0001t0002g0089	1	101	0.0099	-48	c.126 others(69): Show c.1261+19902_1261+19949delCTCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCC	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53351426	GTATATAT others(41): Show GTATATATATATACAGTGTATATATATATATACACAGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01106.hp1 HG01433.hp2 others(6): Show HG00673.hp2 HG01106.hp1 HG01433.hp2 HG02809.hp1 HG03017.hp2 HG03669.hp2 HG04228.hp2 NA18971.hp1 NA18982.hp2	a0001 a0008 a0001 a0008	a0001c0003 a0008c0017 a0001c0003 a0008c0017	a0001c0003t0004 a0001c0003t0012 a0001c0003t0020 others(2): Show a0001c0003t0004 a0001c0003t0012 a0001c0003t0020 a0001c0003t0030 a0008c0017t0004	a0001c0003t0004g0008 a0001c0003t0004g0057 a0001c0003t0004g0061 others(6): Show a0001c0003t0004g0008 a0001c0003t0004g0057 a0001c0003t0004g0061 a0001c0003t0004g0092 a0001c0003t0012g0082 a0001c0003t0012g0100 a0001c0003t0020g0102 a0001c0003t0030g0020 a0008c0017t0004g0110	9	99	0.0909	-48	c.235 others(69): Show c.2359+11532_2359+11579delCAGTGTATATATATATATACACAG TGTGTATATATATATATATATATA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	15/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCX_chrX_111288779_111417192	111416570	ACTCTCGC others(41): Show ACTCTCGCTCTCTTGTTCTCTCGCTCTCTTGTTCTCTCGCTCTCTTGTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	119	0.0084	-48	c.-45 others(59): Show c.-4503_-4456delAACAAGAGAGCGAGAGAACAAGAGAGCGAGAGAA CAAGAGAGCGAGAG	DCX	ENSG00000077279.21	transcript	ENST00000636035.2	protein_coding		4379		chrX	TogoVar
DDA1_chr19_17304563_17328298	17315273	GTATATAC others(41): Show GTATATACACACACTATATATATACACACGTGTATATATATACACGCTA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00423.hp2 others(63): Show HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02083.hp1 HG02129.hp2 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02523.hp2 HG02572.hp1 HG02622.hp2 HG02647.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 NA18906.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18954.hp1 NA18959.hp1 NA18973.hp2 NA18980.hp2 NA18985.hp2 NA18986.hp1 NA18999.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19011.hp2 NA19043.hp2 NA19079.hp1 NA19084.hp2 NA19085.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 others(5): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026	a0001c0001t0004g0150 a0001c0001t0004g0171 a0001c0001t0004g0202 others(41): Show a0001c0001t0004g0150 a0001c0001t0004g0171 a0001c0001t0004g0202 a0001c0001t0005g0006 a0001c0001t0005g0012 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0049 a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0153 a0001c0001t0005g0154 a0001c0001t0005g0155 a0001c0001t0005g0158 a0001c0001t0005g0160 a0001c0001t0005g0161 a0001c0001t0005g0164 a0001c0001t0005g0165 a0001c0001t0005g0169 a0001c0001t0005g0170 a0001c0001t0005g0175 a0001c0001t0005g0212 a0001c0001t0005g0213 a0001c0001t0005g0221 a0001c0001t0007g0013 a0001c0001t0007g0050 a0001c0001t0007g0156 a0001c0001t0007g0157 a0001c0001t0007g0159 a0001c0001t0007g0163 a0001c0001t0007g0183 a0001c0001t0007g0184 a0001c0001t0007g0185 a0001c0001t0007g0188 a0001c0001t0007g0189 a0001c0001t0007g0190 a0001c0001t0007g0196 a0001c0001t0007g0219 a0001c0001t0011g0053 a0001c0001t0012g0195 a0001c0001t0012g0214 a0001c0001t0023g0168 a0001c0001t0025g0162 a0001c0001t0026g0166	66	363	0.1818	-48	c.137 others(63): Show c.137-654_137-607delCACACACTATATATATACACACGTGTATAT ATATACACGCTATATATA	DDA1	ENSG00000130311.11	transcript	ENST00000359866.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
DDA1_chr19_17304563_17328298	17315280	CACACACT others(41): Show CACACACTATATATATACACACGTGTATATATATACACGCTATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02258.hp2 others(3): Show HG01167.hp2 HG01169.hp1 HG02258.hp2 HG03139.hp1 HG03225.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0056 a0001c0001t0004g0085 a0001c0001t0004g0086 others(2): Show a0001c0001t0004g0056 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0174 a0001c0001t0004g0187	6	317	0.0189	-48	c.137 others(63): Show c.137-647_137-600delTATATATATACACACGTGTATATATATACA CGCTATATATATACACAC	DDA1	ENSG00000130311.11	transcript	ENST00000359866.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
DDA1_chr19_17304563_17328298	17315304	GTATATAT others(41): Show GTATATATATACACGCTATATATATACACACGTATATATATACACGCTA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00741.hp2 others(39): Show HG00140.hp1 HG00280.hp1 HG00741.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01192.hp2 HG01433.hp2 HG01978.hp2 HG02027.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp2 HG04228.hp2 NA18940.hp2 NA18952.hp1 NA18959.hp2 NA18961.hp2 NA18963.hp1 NA18974.hp2 NA19062.hp1 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0018 a0001c0001t0019 others(1): Show a0001c0001t0003 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020	a0001c0001t0003g0003 a0001c0001t0003g0011 a0001c0001t0003g0014 others(20): Show a0001c0001t0003g0003 a0001c0001t0003g0011 a0001c0001t0003g0014 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0032 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0080 a0001c0001t0018g0070 a0001c0001t0019g0003 a0001c0001t0020g0067	42	370	0.1135	-48	c.137 others(63): Show c.137-621_137-574delTACACGCTATATATATACACACGTATATAT ATACACGCTATATATATA	DDA1	ENSG00000130311.11	transcript	ENST00000359866.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
DDC_chr7_50453442_50570405	50460210	AGCCGCCC others(41): Show AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCTGGCCCAGCCT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA20129.hp2 HG03225.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0012	2	358	0.0056	-48	c.19 others(65): Show c.19-1415_*19-1368delAGGCTGGGCCAGGGGCTGACCCCCCACC TCCCTCCCGGACGGGGCGGC	DDC	ENSG00000132437.18	transcript	ENST00000444124.7	protein_coding	14/14			chr7	TogoVar
DDX28_chr16_68015916_68028232	68020799	ACATATAT others(41): Show ACATATATATATATACGTATATATATGTATGTGTATATATATATATACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03225.hp1 NA19240.hp1 HG03041.hp2 HG03225.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	3	388	0.0077	-48	c.73 others(57): Show c.733_*780delCGTATATATATATATACACATACATATATATACGTA TATATATATATG	DDX28	ENSG00000182810.7	transcript	ENST00000332395.7	protein_coding		116		chr16	TogoVar
DEAF1_chr11_639233_700222	640056	TCCCCGGG others(41): Show TCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCAGCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0291 a0001c0001t0005g0291	1	344	0.0029	-48	c.44 others(59): Show c.4446_*4493delGAGGCTGGGCGCGGCGGGCGCACAGTCGGGGCCG CAGGGACCCCGGGG	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding		4176		chr11	TogoVar
DEAF1_chr11_639233_700222	640065	TCCCTGCG others(41): Show TCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCAGCCTCCCCCAGGAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 NA18961.hp2 NA19091.hp2 HG01346.hp2 NA18961.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0066 a0001c0001t0001g0115 a0001c0003t0001g0146 a0001c0001t0001g0066 a0001c0001t0001g0115 a0001c0003t0001g0146	3	344	0.0087	-48	c.44 others(59): Show c.4437_*4484delGTCCTGGGGGAGGCTGGGCGCGGCGGGCGCACAG TCGGGGCCGCAGGG	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding		4167		chr11	TogoVar
DEFB124_chr20_31460471_31480127	31471316	CCCCCCCC others(41): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01123.hp2 HG01192.hp1 others(13): Show HG00323.hp2 HG01123.hp2 HG01192.hp1 HG01257.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG02074.hp1 HG02300.hp2 HG02523.hp2 HG03139.hp2 HG04199.hp2 NA18942.hp2 NA18943.hp2 NA18964.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0161 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0002g0029 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0135 a0001c0001t0002g0136	16	360	0.0444	-48	c.58+ others(63): Show c.58+1592_58+1639delTCAGCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGG	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DEPDC1B_chr5_60591912_60705166	60668110	TTTATATA others(41): Show TTTATATATATATATAAAATGGATATTTTATATATATATAAAATGGATA	T T	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	290	0.0034	-48	c.314 others(67): Show c.314+18804_314+18851delTATCCATTTTATATATATATAAAATA TCCATTTTATATATATATATAA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DGKH_chr13_42043648_42247896	42207123	CTCCTTCC others(41): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01346.hp2 HG00544.hp1 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0023 a0001c0002t0001 a0001c0002t0023	a0001c0002t0001g0191 a0001c0002t0023g0119 a0001c0002t0001g0191 a0001c0002t0023g0119	2	80	0.0250	-48	c.260 others(67): Show c.2601+1004_2601+1051delCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTC	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	21/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKK_chrX_50360409_50475825	50447335	TATATATA others(41): Show TATATATATTATATATATATATAATATATATATATTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01168.hp2 HG01169.hp2 others(5): Show HG00733.hp2 HG01168.hp2 HG01169.hp2 HG02486.hp1 HG03139.hp1 HG03225.hp1 HG03516.hp2 NA19070.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0003 a0002c0004 others(1): Show a0001c0002 a0001c0003 a0002c0004 a0004c0007	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0005 a0002c0004t0001 a0004c0007t0004	a0001c0002t0001g0191 a0001c0002t0002g0144 a0001c0003t0001g0137 others(5): Show a0001c0002t0001g0191 a0001c0002t0002g0144 a0001c0003t0001g0137 a0001c0003t0001g0138 a0001c0003t0005g0147 a0001c0003t0005g0149 a0002c0004t0001g0182 a0004c0007t0004g0221	8	245	0.0327	-48	c.645 others(67): Show c.645+22651_645+22698delTATATATATATATAATATATATATAT TATATATATATATAATATATAT	DGKK	ENSG00000274588.2	transcript	ENST00000611977.2	protein_coding	1/27			chrX	TogoVar
DHODH_chr16_72003744_72032659	72021454	CCAGAGTC others(41): Show CCAGAGTCCCCTCTGATCCCCTCTCATGACACTGATTATATGCGACGGT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0178 a0008c0007t0001g0178	1	412	0.0024	-48	c.705 others(63): Show c.705+144_705+191delCAGAGTCCCCTCTGATCCCCTCTCATGACA CTGATTATATGCGACGGT	DHODH	ENSG00000102967.12	transcript	ENST00000219240.9	protein_coding	5/8			chr16	TogoVar
DHRS12_chr13_51762993_51809163	51775817	TCTCCTAC others(41): Show TCTCCTACAGTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03041.hp2 HG02145.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0130 a0001c0001t0001g0131	2	416	0.0048	-48	c.363 others(65): Show c.363+1195_363+1242delGAGAATACTGTAGGAGAATACTGTAGGA GAATACATGTACTGTAGGAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51776117	TGTATTCT others(41): Show TGTATTCTACAGTATTCTCCTACATGTATTCTCCTACATGTATTCTACA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02897.hp1 HG02647.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0153 a0001c0001t0004g0070 a0001c0001t0001g0153 a0001c0001t0004g0070	2	405	0.0049	-48	c.363 others(63): Show c.363+895_363+942delTGTAGAATACATGTAGGAGAATACATGTAG GAGAATACTGTAGAATAC	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS13_chr17_28892781_28908079	28906879	ACAATACT others(41): Show ACAATACTGCTTGGGGGGGTTGGCGGGGTCTTCTCCGAGAAGTCACATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	-48	c.-39 others(59): Show c.-3983_-3936delCATGTGACTTCTCGGAGAAGACCCCGCCAACCCC CCCAAGCAGTATTG	DHRS13	ENSG00000167536.14	transcript	ENST00000378895.9	protein_coding		3801		chr17	TogoVar
DHRS9_chr2_169064563_169101167	169079967	GAGAGAGA others(41): Show GAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA19057.hp1 NA18962.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0020 a0001c0002t0002g0022 a0001c0002t0002g0020 a0001c0002t0002g0022	2	391	0.0051	-48	c.-59 others(65): Show c.-59-1552_-59-1505delGAGAGAGAGAGAGAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGA	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRSX_chrX_2214506_2505976	2485719	AGAAGGAA others(41): Show AGAAGGAAGGGAGAAAAGGGAGAGAAGGGAGGGAAGGAAGGGAGAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02647.hp1 HG02717.hp1 others(1): Show HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02886.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0002c0005 a0003c0003 others(1): Show a0001c0001 a0002c0005 a0003c0003 a0009c0011	a0001c0001t0001 a0002c0005t0008 a0003c0003t0005 others(1): Show a0001c0001t0001 a0002c0005t0008 a0003c0003t0005 a0009c0011t0009	a0001c0001t0001g0029 a0002c0005t0008g0007 a0003c0003t0005g0006 others(1): Show a0001c0001t0001g0029 a0002c0005t0008g0007 a0003c0003t0005g0006 a0009c0011t0009g0008	4	48	0.0833	-48	c.109 others(67): Show c.109+15050_109+15097delCTTCTCTCCCTTCCTTCCCTCCCTTC TCTCCCTTTTCTCCCTTCCTTC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	1/6			chrX	TogoVar
DIAPH1_chr5_141510021_141624000	141553269	GTGACAGG others(41): Show GTGACAGGCTGTCTTTTTTTTTTGACCCTGTCTCAAAAAAACAACTTAA	G G	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0270 a0002c0004t0001g0270	1	334	0.0030	-48	c.248 others(69): Show c.2482+18111_2482+18158delTTAAGTTGTTTTTTTGAGACAGGG TCAAAAAAAAAAGACAGCCTGTCA	DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	18/27			chr5	TogoVar
DIAPH2_chrX_96679842_97609997	96962448	TACACACA others(41): Show TACACACACATATATATATACATATATATATACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03139.hp1 HG01891.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0004 a0001c0001t0003g0006 a0001c0001t0002g0004 a0001c0001t0003g0006	2	146	0.0137	-48	c.193 others(67): Show c.1936-2643_1936-2596delCACACACATATATATATACATATATA TATACACACACACACACACACA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	16/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIP2B_chr12_50499985_50753657	50579638	AAAAAAAA others(41): Show AAAAAAAATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0090 a0001c0001t0010g0090	1	280	0.0036	-48	c.101 others(67): Show c.101-46336_101-46289delAAAAAATATATATATATATATATATA TATATATATATATATATATATA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50579644	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0017 a0004c0007t0017	a0004c0007t0017g0093 a0004c0007t0017g0094 a0004c0007t0017g0093 a0004c0007t0017g0094	2	206	0.0097	-48	c.101 others(67): Show c.101-46304_101-46257delTATATATATATATATATATATATATA TATATATATATATATATATATA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	345492	CAGTTCTC others(41): Show CAGTTCTCCCGGAAACCCCACAAACACCCATCCCAGACACACCGCGCAT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG00621.hp1 others(23): Show HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00738.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG02040.hp2 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02300.hp1 HG02602.hp1 HG02922.hp2 HG03130.hp2 HG03225.hp2 HG03579.hp1 HG03579.hp2 HG03942.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18962.hp2 NA19066.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(5): Show a0001c0001 a0001c0002 a0001c0007 a0001c0010 a0001c0011 a0001c0015 a0001c0020 a0001c0023	a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 others(7): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0007t0007 a0001c0010t0002 a0001c0011t0003 a0001c0015t0002 a0001c0020t0008 a0001c0023t0003	a0001c0001t0003g0085 a0001c0002t0001g0030 a0001c0002t0001g0052 others(23): Show a0001c0001t0003g0085 a0001c0002t0001g0030 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0059 a0001c0002t0001g0067 a0001c0002t0001g0080 a0001c0002t0002g0051 a0001c0002t0002g0068 a0001c0002t0003g0011 a0001c0002t0003g0012 a0001c0002t0003g0029 a0001c0002t0003g0031 a0001c0002t0003g0037 a0001c0002t0003g0055 a0001c0002t0003g0058 a0001c0002t0003g0063 a0001c0002t0003g0066 a0001c0002t0003g0069 a0001c0002t0003g0084 a0001c0007t0007g0056 a0001c0010t0002g0001 a0001c0011t0003g0088 a0001c0015t0002g0082 a0001c0020t0008g0074 a0001c0023t0003g0057	26	88	0.2955	-48	c.323 others(65): Show c.3232-430_3232-383delATGCGCGGTGTGTCTGGGATGGGTGTTT GTGGGGTTTCCGGGAGAACT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	26/36			chr10	TogoVar

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