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
CACNG7_chr19_53904278_53948950	53921575	GTTGCCCC others(76): Show GTTGCCCCAGGTCTGGTCATTGGTGGAGTCGTCCCCAGGTCTGGTCATTG GTGGAGTCGTCCCCAGGTCTGGTCATTGGTGGAC	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0031 a0001c0001t0015g0031	1	364	0.0028	-83	c.424 others(100): Show c.424+6097_424+6179delGTCGTCCCCAGGTCTGGTCATTGGTGGA GTCGTCCCCAGGTCTGGTCATTGGTGGACTTGCCCCAGGTCTGGTCATTG GTGGA	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAPN13_chr2_30717771_30812446	30800077	AAAAGAAA others(76): Show AAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAAGAAAGAAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0366 a0001c0002t0004g0366	1	384	0.0026	-83	c.-33 others(100): Show c.-33+7142_-33+7224delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTTCTTTCTTTTCTTTCTTTCTTTTCTTTCTTTCTT TCTTT	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CARMIL1_chr6_25274374_25625530	25586064	AACCTCCC others(76): Show AACCTCCCAGACGGGGTGGCGGCCAGGCAGAGGCGCCCCCCATCTCCCTA ACGGGACGGCTGGCCGGGCGGGGGGTTGCCCCCC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0017 a0001c0002t0003g0017	1	186	0.0054	-83	c.300 others(102): Show c.3006+4641_3006+4723delTGGCGGCCAGGCAGAGGCGCCCCCCA TCTCCCTAACGGGACGGCTGGCCGGGCGGGGGGTTGCCCCCCACCTCCCA GACGGGG	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	31/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CASZ1_chr1_10631604_10801646	10715790	ACAGCACC others(76): Show ACAGCACCCAATCCACACCCCACAGCATCCAATCCGCACCTACAGCACCC AATCCACTCCCCGCAGCACCCAATCCTCTCCCGG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00741.hp1 HG01099.hp2 others(35): Show HG00558.hp1 HG00741.hp1 HG01099.hp2 HG01109.hp2 HG01243.hp2 HG01255.hp2 HG01258.hp2 HG01884.hp1 HG02004.hp1 HG02080.hp1 HG02109.hp2 HG02258.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02723.hp2 HG02738.hp1 HG02922.hp2 HG03130.hp1 HG03139.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03834.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18966.hp1 NA18969.hp1 NA18984.hp1 NA19012.hp1 NA19240.hp2 NA21309.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0009 a0011 a0014 a0015	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0011 a0001c0023 a0002c0007 a0002c0035 a0003c0014 a0004c0005 a0005c0017 a0005c0018 a0009c0043 a0011c0036 a0014c0020 a0015c0039	a0001c0001t0001 a0001c0001t0018 a0001c0001t0052 others(23): Show a0001c0001t0001 a0001c0001t0018 a0001c0001t0052 a0001c0002t0001 a0001c0002t0003 a0001c0003t0002 a0001c0003t0005 a0001c0003t0027 a0001c0004t0001 a0001c0004t0002 a0001c0008t0011 a0001c0008t0019 a0001c0011t0004 a0001c0023t0002 a0002c0007t0009 a0002c0007t0016 a0002c0035t0033 a0003c0014t0035 a0004c0005t0001 a0004c0005t0013 a0005c0017t0041 a0005c0018t0012 a0009c0043t0002 a0011c0036t0002 a0014c0020t0053 a0015c0039t0011	a0001c0001t0001g0077 a0001c0001t0001g0098 a0001c0001t0001g0125 others(35): Show a0001c0001t0001g0077 a0001c0001t0001g0098 a0001c0001t0001g0125 a0001c0001t0001g0187 a0001c0001t0018g0013 a0001c0001t0052g0180 a0001c0002t0001g0076 a0001c0002t0001g0083 a0001c0002t0001g0119 a0001c0002t0003g0025 a0001c0003t0002g0050 a0001c0003t0002g0053 a0001c0003t0002g0087 a0001c0003t0002g0183 a0001c0003t0002g0226 a0001c0003t0005g0005 a0001c0003t0027g0006 a0001c0004t0001g0205 a0001c0004t0002g0225 a0001c0008t0011g0101 a0001c0008t0011g0173 a0001c0008t0019g0014 a0001c0011t0004g0164 a0001c0023t0002g0063 a0002c0007t0009g0127 a0002c0007t0009g0176 a0002c0007t0016g0064 a0002c0007t0016g0067 a0002c0035t0033g0128 a0003c0014t0035g0112 a0004c0005t0001g0111 a0004c0005t0013g0045 a0005c0017t0041g0090 a0005c0018t0012g0177 a0009c0043t0002g0055 a0011c0036t0002g0113 a0014c0020t0053g0131 a0015c0039t0011g0103	38	236	0.1610	-83	c.-76 others(102): Show c.-76-10329_-76-10247delCCGGGAGAGGATTGGGTGCTGCGGGG AGTGGATTGGGTGCTGTAGGTGCGGATTGGATGCTGTGGGGTGTGGATTG GGTGCTG	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CCDC30_chr1_42458286_42662190	42608028	ATCATACG others(76): Show ATCATACGGCCCTTTAAGGCTCATTACCATGTCTGTAATTCAGCCCCAAA CACCATGTCTGTAATTCAGCCTCTAGACCAGGGG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA19030.hp2 HG02559.hp2 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0022 a0003c0023 a0001c0022 a0003c0023	a0001c0022t0045 a0003c0023t0046 a0001c0022t0045 a0003c0023t0046	a0001c0022t0045g0049 a0003c0023t0046g0050 a0001c0022t0045g0049 a0003c0023t0046g0050	2	324	0.0062	-83	c.184 others(102): Show c.1849-2944_1849-2862delCGGCCCTTTAAGGCTCATTACCATGT CTGTAATTCAGCCCCAAACACCATGTCTGTAATTCAGCCTCTAGACCAGG GGTCATA	CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC7_chr10_32441140_32887864	32649771	TCTGAGAT others(76): Show TCTGAGATTCTTTCCTCAACTTGGTCTATTCTGCTGTTAATACTTCTGAT TGTATTATGAAATTCTTGTAGTGAGCTTTTCAGC	T T	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0193 a0001c0002t0001g0193	1	368	0.0027	-83	c.201 others(104): Show c.2015-14282_2015-14200delCTGAGATTCTTTCCTCAACTTGGT CTATTCTGCTGTTAATACTTCTGATTGTATTATGAAATTCTTGTAGTGAG CTTTTCAGC	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	21/43			chr10	TogoVar
CDC42EP5_chr19_54460026_54478296	54470723	ACACAGAG others(76): Show ACACAGAGAAGTTAAGTCACTTGCCCTGGGTCACACAGTAGCAAATGCTG CGCGCCAGATCTGGAATCCAGACGAACTCTTAGC	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0225 a0001c0001t0007g0225	1	421	0.0024	-83	c.-1+ others(96): Show c.-1+739_-1+821delGCTAAGAGTTCGTCTGGATTCCAGATCTGGCG CGCAGCATTTGCTACTGTGTGACCCAGGGCAAGTGACTTAACTTCTCTGT G	CDC42EP5	ENSG00000167617.3	transcript	ENST00000301200.3	protein_coding	2/2			chr19	TogoVar
CDK18_chr1_205499669_205537790	205501887	GGTGGCCA others(76): Show GGTGGCCAAAGCTTGTTGTGCCATTCTCTGGGCTCCATATAGATGCCCAC CTGCAGTTCATCCTCTTCCTTCAACCCTGAGAAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 NA18980.hp2 NA18987.hp2 others(3): Show HG00621.hp2 NA18980.hp2 NA18987.hp2 NA18990.hp2 NA19074.hp2 NA19090.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0002 a0001c0001t0006 a0005c0009t0006 a0001c0001t0002 a0001c0001t0006 a0005c0009t0006	a0001c0001t0002g0050 a0001c0001t0002g0065 a0001c0001t0002g0112 others(2): Show a0001c0001t0002g0050 a0001c0001t0002g0065 a0001c0001t0002g0112 a0001c0001t0006g0017 a0005c0009t0006g0051	6	388	0.0155	-83	c.-29 others(94): Show c.-2930_-2848delGTGGCCAAAGCTTGTTGTGCCATTCTCTGGGCTC CATATAGATGCCCACCTGCAGTTCATCCTCTTCCTTCAACCCTGAGAAC	CDK18	ENSG00000117266.16	transcript	ENST00000429964.7	protein_coding		2781		chr1	TogoVar
CHST8_chr19_33616953_33778506	33757454	GAAAGAAA others(76): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	254	0.0039	-83	c.131 others(102): Show c.131-13956_131-13874delAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAG AAAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CLDN8_chr21_30209006_30221097	30210219	CATATATA others(76): Show CATATATATATATATATATATATATATAGTCTCCCTAATTGTAATTCAAG GTACGTATGTGTATATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 NA18978.hp1 NA19060.hp2 others(1): Show HG01243.hp1 NA18978.hp1 NA19060.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	466	0.0086	-83	c.49 others(94): Show c.4946_*5028delATATATATATATATATATATATACACATACGTAC CTTGAATTACAATTAGGGAGACTATATATATATATATATATATATATAT	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3786		chr21	TogoVar
CLDN8_chr21_30209006_30221097	30210259	GTAATTCA others(76): Show GTAATTCAAGGTACGTATGTGTATATATATATATATATATATATATATAT ATATATATATATATATATATAGTCTCCCTAATTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	466	0.0022	-83	c.49 others(94): Show c.4906_*4988delGAATTAGGGAGACTATATATATATATATATATAT ATATATATATATATATATATATATATATACACATACGTACCTTGAATTA	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3746		chr21	TogoVar
CLN8_chr8_1758789_1791570	1763547	GCCGCGCC others(76): Show GCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCC CGCCGCGCCCCGCCCCCCGCGCCGCGCCCCGCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0047 a0001c0001t0003g0047	1	413	0.0024	-83	c.-46 others(92): Show c.-461_-379delCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCC GCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCGCCGCGCCCCGCCC	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		241		chr8	TogoVar
CLPX_chr15_65143219_65190342	65145935	AAAAAATA others(76): Show AAAAAATATATAAATATATATATAAAATATATATATAAATATATATATAA ATATATATATAAATATATATATAAATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	190	0.0053	-83	c.48 others(94): Show c.4805_*4887delATATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATATTTTATATATATATTTATATATTTTT	CLPX	ENSG00000166855.9	transcript	ENST00000300107.7	protein_coding		2283		chr15	TogoVar
COL23A1_chr5_178232618_178595393	178487049	CCCTCAGT others(76): Show CCCTCAGTGCCTGAGAGTTCTGCACAGGACGCTCTCAGAATCTAGAGGCT CCAGGCTGGGGCCAGGTCCAAGTCCCAGTTGACA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp2 HG00639.hp1 others(14): Show HG00408.hp2 HG00621.hp2 HG00639.hp1 HG01884.hp2 HG02145.hp2 HG02809.hp1 HG02895.hp2 HG02965.hp2 HG02976.hp2 HG03139.hp1 HG03225.hp1 HG03669.hp2 NA18906.hp2 NA18950.hp1 NA18959.hp2 NA19060.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0004 a0002c0002 others(8): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0002c0014 a0003c0005 a0003c0024 a0004c0006 a0005c0008 a0006c0018 a0007c0010	a0001c0001t0003 a0001c0001t0004 a0001c0004t0004 others(11): Show a0001c0001t0003 a0001c0001t0004 a0001c0004t0004 a0002c0002t0001 a0002c0003t0002 a0002c0003t0003 a0002c0014t0003 a0003c0005t0003 a0003c0005t0005 a0003c0024t0010 a0004c0006t0003 a0005c0008t0002 a0006c0018t0003 a0007c0010t0002	a0001c0001t0003g0116 a0001c0001t0003g0122 a0001c0001t0004g0188 others(14): Show a0001c0001t0003g0116 a0001c0001t0003g0122 a0001c0001t0004g0188 a0001c0004t0004g0023 a0002c0002t0001g0191 a0002c0003t0002g0209 a0002c0003t0003g0157 a0002c0014t0003g0124 a0003c0005t0003g0125 a0003c0005t0005g0208 a0003c0024t0010g0236 a0004c0006t0003g0128 a0004c0006t0003g0167 a0004c0006t0003g0172 a0005c0008t0002g0155 a0006c0018t0003g0018 a0007c0010t0002g0117	17	236	0.0720	-83	c.361 others(102): Show c.361+73550_361+73632delTGTCAACTGGGACTTGGACCTGGCCC CAGCCTGGAGCCTCTAGATTCTGAGAGCGTCCTGTGCAGAACTCTCAGGC ACTGAGG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL26A1_chr7_101357875_101564024	101489711	TTCATTCT others(76): Show TTCATTCTTTCTTTCTCTCTCTCTTTCTCTCTTTCTTTCTTGTCTCTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG00438.hp2 HG00621.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0087 a0002c0003t0001g0164 a0002c0003t0001g0087 a0002c0003t0001g0164	2	174	0.0115	-83	c.385 others(102): Show c.385+41926_385+42008delCATTCTTTCTTTCTCTCTCTCTTTCT CTCTTTCTTTCTTGTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL4A2_chr13_110302284_110518209	110457068	CTGCGTCT others(76): Show CTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCGTGCATCT GCGTGGGACCCCAGGCGTCGTGGGGCTGATGCCG	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0037 a0037	a0037c0049 a0037c0049	a0037c0049t0031 a0037c0049t0031	a0037c0049t0031g0045 a0037c0049t0031g0045	1	372	0.0027	-83	c.134 others(100): Show c.1340-233_1340-151delGTGCATCTGCGTGGGACCCCAGGCGTCG TGGGGCTGATGCCGTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTG ATGCC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	20/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
CPSF2_chr14_92116969_92177145	92173352	TATATACG others(76): Show TATATACGTATATATATATGTATATATATACGTATATATATATATACACA TATGTATATATATATATGTGTATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0161 a0001c0001t0161	a0001c0001t0161g0030 a0001c0001t0161g0030	1	388	0.0026	-83	c.11 others(96): Show c.11609_*11691delATATACGTATATATATATGTATATATATACGT ATATATATATATACACATATGTATATATATATATGTGTATATATATATAT A	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1208		chr14	TogoVar
CSF1R_chr5_150048295_150091554	150084384	AAAGAAAG others(76): Show AAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0016 a0001c0001t0006g0016	1	406	0.0025	-83	c.49+ others(98): Show c.49+1912_49+1994delCCTTTCTTTCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTT CTT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542610	ATATATAT others(76): Show ATATATATATATATATATATATATATATATGTATATATATATATATATAT ATATATATATATGTATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0167 a0001c0001t0048g0167	1	390	0.0026	-83	c.230 others(100): Show c.230+7382_230+7464delATATATATATATATATATATACATATAT ATATATATATATATATATATATATACATATATATATATATATATATATAT ATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CST9L_chr20_23559732_23573484	23561001	TTCCTTCC others(76): Show TTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTT CCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 NA18962.hp2 NA19010.hp2 others(1): Show HG02735.hp2 NA18962.hp2 NA19010.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	4	392	0.0102	-83	c.38 others(94): Show c.3864_*3946delGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGG AAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3730		chr20	TogoVar
CST9L_chr20_23559732_23573484	23561015	CCTTCCTT others(76): Show CCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCT TTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	392	0.0026	-83	c.38 others(94): Show c.3850_*3932delAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAA AGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAG	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3716		chr20	TogoVar
CST9L_chr20_23559732_23573484	23561023	CTTTCCTT others(76): Show CTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCT TTCCTTCTTTCCTTCTTTCCTTCTTTCTTTCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	392	0.0026	-83	c.38 others(94): Show c.3842_*3924delAAAGAAAGAAAGAAGGAAAGAAGGAAAGAAGGAA AGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3708		chr20	TogoVar
CTBS_chr1_84544611_84579440	84576038	ACTCCAGC others(76): Show ACTCCAGCCTCAGCAACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAA AAAAGAAAAGAAAAGAAATAAGTAATTATCAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp2 NA19063.hp2 NA18988.hp2 NA19063.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0014 a0002c0003t0014	a0002c0003t0014g0058 a0002c0003t0014g0059 a0002c0003t0014g0058 a0002c0003t0014g0059	2	340	0.0059	-83	c.-17 others(94): Show c.-1706_-1624delCCTTGATAATTACTTATTTCTTTTCTTTTCTTTT TTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTTGCTGAGGCTGGAG	CTBS	ENSG00000117151.13	transcript	ENST00000370630.6	protein_coding		1599		chr1	TogoVar
CTNNA3_chr10_65907523_67701195	67647832	AGACACAT others(76): Show AGACACATCTTACAGCATTCAAGTCCTTTGGCTTCTGTGAAATCACAGCA CTGAGGCAGCCTATGCCCATATTTTGCTTCTTCT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG06807.hp2 HG02965.hp1 HG06807.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0010 a0002c0002 a0004c0010	a0002c0002t0003 a0004c0010t0002 a0002c0002t0003 a0004c0010t0002	a0002c0002t0003g0039 a0004c0010t0002g0021 a0002c0002t0003g0039 a0004c0010t0002g0021	2	46	0.0435	-83	c.-5- others(96): Show c.-5-397_-5-315delAGAAGAAGCAAAATATGGGCATAGGCTGCCTC AGTGCTGTGATTTCACAGAAGCCAAAGGACTTGAATGCTGTAAGATGTGT C	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	1/17			chr10	TogoVar
CTSS_chr1_150725188_150770778	150744066	TTTATATA others(76): Show TTTATATATTATATGTATATTATGTATACATAATATATTATATATTATAT GTATATTATGTATACATAATATGTACACATAATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01255.hp1 HG01257.hp2 others(7): Show HG01243.hp2 HG01255.hp1 HG01257.hp2 HG04204.hp2 NA18942.hp2 NA18960.hp2 NA18995.hp2 NA19001.hp2 NA19005.hp2 NA19070.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0001t0001g0130 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0001t0001g0130 a0003c0003t0001g0023 a0003c0003t0001g0110	10	344	0.0291	-83	c.896 others(100): Show c.896+3628_896+3710delTATTATGTGTACATATTATGTATACATA ATATACATATAATATATAATATATTATGTATACATAATATACATATAATA TATAA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTSS_chr1_150725188_150770778	150744102	ATTATATA others(76): Show ATTATATATTATATGTATATTATGTATACATAATATGTACACATAATATT TATATATTATATGTATATTATGTATACATAATAT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03098.hp1 HG03453.hp2 HG01433.hp2 HG03098.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0269 a0001c0001t0003g0034 a0001c0001t0003g0269	3	344	0.0087	-83	c.896 others(100): Show c.896+3592_896+3674delATATTATGTATACATAATATACATATAA TATATAAATATTATGTGTACATATTATGTATACATAATATACATATAATA TATAA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CYB5A_chr18_74245846_74296963	74291386	TCCCAGGT others(76): Show TCCCAGGTGTACACGCGCAGGTGTGCGGACTCAGGGAGCGCTCCCCAGGT GTGCACGCGCAGGTGTGCGGACTCGAGGAGAGCG	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01175.hp2 HG01516.hp1 others(16): Show HG00738.hp2 HG01175.hp2 HG01516.hp1 HG02486.hp1 HG03490.hp1 HG03704.hp1 HG03927.hp2 NA18947.hp2 NA18948.hp1 NA18970.hp2 NA18992.hp2 NA19000.hp1 NA19003.hp2 NA19010.hp1 NA19011.hp2 NA19058.hp2 NA19063.hp2 NA19085.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0031 a0001c0001t0001 a0001c0001t0031	a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0017 others(10): Show a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0031g0048	19	396	0.0480	-83	c.129 others(98): Show c.129+278_129+360delCGCTCTCCTCGAGTCCGCACACCTGCGCGT GCACACCTGGGGAGCGCTCCCTGAGTCCGCACACCTGCGCGTGTACACCT GGG	CYB5A	ENSG00000166347.19	transcript	ENST00000340533.9	protein_coding	1/4			chr18	TogoVar
DGKB_chr7_14140049_14907751	14211647	CTCATGTT others(76): Show CTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGT TTTGTGATTTTACTCTCATGTTTTGTGATATTTA	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0030	a0001c0002t0030g0092 a0001c0002t0030g0092	1	148	0.0068	-83	c.212 others(104): Show c.2123-33579_2123-33497delTAAATATCACAAAACATGAGAGTA AAATCACAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAATATCAC AAAACATGA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DLGAP2_chr8_732628_1713476	1236108	CCATGTCT others(76): Show CCATGTCTAGTTCTCTCACATGTTGCCGTGTCTAGTTCTCTCTCACACAT AGCGTCTTGTCTAGTTCTCTCTCACACAGAGCAT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp2 HG01361.hp1 others(13): Show HG01071.hp1 HG01071.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG02071.hp2 HG02074.hp2 HG02258.hp1 HG02258.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02818.hp2 HG02922.hp2 HG03486.hp2 HG03710.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0003 a0001c0012 others(5): Show a0001c0002 a0001c0003 a0001c0012 a0001c0014 a0002c0001 a0002c0004 a0002c0009 a0004c0005	a0001c0002t0009 a0001c0003t0001 a0001c0003t0006 others(12): Show a0001c0002t0009 a0001c0003t0001 a0001c0003t0006 a0001c0003t0017 a0001c0012t0012 a0001c0014t0004 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0011 a0002c0001t0019 a0002c0004t0003 a0002c0009t0021 a0004c0005t0004	a0001c0002t0009g0039 a0001c0003t0001g0025 a0001c0003t0006g0033 others(13): Show a0001c0002t0009g0039 a0001c0003t0001g0025 a0001c0003t0006g0033 a0001c0003t0017g0004 a0001c0012t0012g0006 a0001c0014t0004g0036 a0002c0001t0001g0018 a0002c0001t0002g0013 a0002c0001t0003g0017 a0002c0001t0003g0022 a0002c0001t0005g0028 a0002c0001t0011g0001 a0002c0001t0019g0030 a0002c0004t0003g0009 a0002c0009t0021g0014 a0004c0005t0004g0037	16	40	0.4000	-83	c.74- others(100): Show c.74-22741_74-22659delATGTCTAGTTCTCTCACATGTTGCCGTG TCTAGTTCTCTCTCACACATAGCGTCTTGTCTAGTTCTCTCTCACACAGA GCATC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1462150	GGGTTGGG others(76): Show GGGTTGGGAGAAGGTGCTGCTGTCAGGTGGGCTGGGTGCAGTCACTGATT TGGTGGCCAGGAGGAGGGAGAAGGGTGGCGTTCA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0024 a0002c0001t0020g0024	1	40	0.0250	-83	c.107 others(102): Show c.107-39191_107-39109delGGTGGGCTGGGTGCAGTCACTGATTT GGTGGCCAGGAGGAGGGAGAAGGGTGGCGTTCAGGTTGGGAGAAGGTGCT GCTGTCA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1573352	GGGTGAAC others(76): Show GGGTGAACTGTGGGGGCGTCTGATGAGATGGAGGGGAGAGAGGGGTGAAC TGTGGGGGCGTCTGATGAGATGGAGAGGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03486.hp1 NA18906.hp1 HG02647.hp2 HG03486.hp1 NA18906.hp1	a0002 a0006 a0002 a0006	a0002c0001 a0006c0011 a0002c0001 a0006c0011	a0002c0001t0002 a0002c0001t0005 a0006c0011t0016 a0002c0001t0002 a0002c0001t0005 a0006c0011t0016	a0002c0001t0002g0013 a0002c0001t0005g0035 a0006c0011t0016g0029 a0002c0001t0002g0013 a0002c0001t0005g0035 a0006c0011t0016g0029	3	40	0.0750	-83	c.144 others(102): Show c.1442+7475_1442+7557delGTCTGATGAGATGGAGGGGAGAGAGG GGTGAACTGTGGGGGCGTCTGATGAGATGGAGAGGAGAGAAGGTGAACTG TGGGGGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1692188	GGTACCGA others(76): Show GGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCGGTACCGA GGCAGGGAGGCGGATACGGCCCTGGTTTAAACGC	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0037 a0004c0005t0004g0037	1	40	0.0250	-83	c.279 others(100): Show c.2796+564_2796+646delTACCGAGGCAGGGAGGCGGATACGGCCC TGGTTTAAACGCGGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAA ACGCG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1692356	GGTACCGA others(76): Show GGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCGGTACCGA GGCAGGGAGGCGGATACGGCCCTGGTTTAAACGC	G G	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0004 a0001c0014t0004	a0001c0014t0004g0036 a0001c0014t0004g0036	1	40	0.0250	-83	c.279 others(100): Show c.2796+732_2796+814delTACCGAGGCAGGGAGGCGGATACGGCCC TGGTTTAAACGCGGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAA ACGCG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32536153	TACTTGGG others(76): Show TACTTGGGAGGCTGAGGCAGGACAATCGCTTGAACCCACGGGGCAGAGGA TGCAGTAAGCTGAGATCGCGCCACTGCACTCCAG	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19043.hp1 HG02922.hp1 NA19043.hp1	a0005 a0014 a0005 a0014	a0005c0007 a0014c0031 a0005c0007 a0014c0031	a0005c0007t0002 a0014c0031t0001 a0005c0007t0002 a0014c0031t0001	a0005c0007t0002g0093 a0014c0031t0001g0096 a0005c0007t0002g0093 a0014c0031t0001g0096	2	126	0.0159	-83	c.216 others(102): Show c.2168+8923_2168+9005delCTGGAGTGCAGTGGCGCGATCTCAGC TTACTGCATCCTCTGCCCCGTGGGTTCAAGCGATTGTCCTGCCTCAGCCT CCCAAGT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	17/78			chrX	TogoVar
DNAH3_chr16_20928111_21155846	21034885	CAAATCCC others(76): Show CAAATCCCTAACCATTAAGTAGGGTTGACATTCAGGTAGGTTTGAAAGCT ACTGTTTGAAAGTTACAGAGCAGAGAACAATACA	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0167 a0004c0007t0001g0167	1	234	0.0043	-83	c.494 others(100): Show c.4948-883_4948-801delTGTATTGTTCTCTGCTCTGTAACTTTCA AACAGTAGCTTTCAAACCTACCTGAATGTCAACCCTACTTAATGGTTAGG GATTT	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	35/61			chr16	TogoVar
DNAJB6_chr7_157332004_157422439	157369638	TTTCTTCA others(76): Show TTTCTTCACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAAC AGGCCTTTCATAACGTTATTATTAAACGGGCCCC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG04115.hp1 HG02647.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0022 a0001c0001t0003 a0001c0001t0022	a0001c0001t0003g0186 a0001c0001t0022g0014 a0001c0001t0003g0186 a0001c0001t0022g0014	2	372	0.0054	-83	c.346 others(100): Show c.346+2219_346+2301delGTTATTATTAAACGGGCCCCTTCTTCAC ATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTC ATAAC	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157369732	TATTATTA others(76): Show TATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCAT AACATTATTATTAAACGAGCCCCTTCTTAACATC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0364 a0001c0001t0002g0364	1	372	0.0027	-83	c.346 others(100): Show c.346+2265_346+2347delCCTTCTTAACATTATTATTAAACAGGCC TTTCATAACATTATTATTAAACGAGCCCCTTCTTAACATCATTATTAAAC AGGCC	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJC4_chr11_64225548_64239281	64234809	CCGGCGGG others(76): Show CCGGCGGGCGGCCCCGGCGGGCACCATGAGCCCTCTGCTCCGCCGCCTGC TGCTCGCCGCACTCCTGCAGCTGGCCCCCGCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	338	0.0030	-83	c.62 others(92): Show c.626_*708delCGGCGGGCGGCCCCGGCGGGCACCATGAGCCCTCTG CTCCGCCGCCTGCTGCTCGCCGCACTCCTGCAGCTGGCCCCCGCCCA	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		529		chr11	TogoVar
DNLZ_chr9_136354483_136368744	136355060	CGAGGGTG others(76): Show CGAGGGTGGATGACACATCCTGGGAGAGGGGTAGCCGGGTGCCGAGGGTG GTGACACGTCCTGGGGTAGGGGTAGCCGGGTGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	418	0.0024	-83	c.68 others(94): Show c.6869_*6951delAGCACCCGGCTACCCCTACCCCAGGACGTGTCAC CACCCTCGGCACCCGGCTACCCCTCTCCCAGGATGTGTCATCCACCCTC	DNLZ	ENSG00000213221.5	transcript	ENST00000371738.4	protein_coding		4422		chr9	TogoVar
DOCK5_chr8_25179689_25420711	25216558	GTGCATAC others(76): Show GTGCATACAATATGTATAGATGTATACAATATGTGCATACAATATGTATA GATGTATACAATATGTGCATACAATATGTATAGA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18906.hp2 HG02145.hp1 NA18906.hp2	a0001 a0001	a0001c0012 a0001c0018 a0001c0012 a0001c0018	a0001c0012t0005 a0001c0018t0001 a0001c0012t0005 a0001c0018t0001	a0001c0012t0005g0148 a0001c0018t0001g0149 a0001c0012t0005g0148 a0001c0018t0001g0149	2	210	0.0095	-83	c.44- others(100): Show c.44-27113_44-27031delCATACAATATGTATAGATGTATACAATA TGTGCATACAATATGTATAGATGTATACAATATGTGCATACAATATGTAT AGATG	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK5_chr8_25179689_25420711	25216622	GTGCATAC others(76): Show GTGCATACAATATGTATAGATGTATACAATATGTGTATACAATATGTATA GATGTATACAATATGTGTATACAATATGTATAGA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0084 a0001c0002t0084	a0001c0002t0084g0001 a0001c0002t0084g0001	1	210	0.0048	-83	c.44- others(100): Show c.44-27049_44-26967delCATACAATATGTATAGATGTATACAATA TGTGTATACAATATGTATAGATGTATACAATATGTGTATACAATATGTAT AGATG	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPRX_chr19_53626999_53642014	53641076	GTTCCCAG others(76): Show GTTCCCAGAGAAAGTTCCCAGAGGAAACAGGAGGGAAAAGGGCGAGGACT GCACCCAGCCAGCTAGGGTATGAGTGTGAACCAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	478	0.0021	-83	c.40 others(94): Show c.4089_*4171delTTCCCAGAGAAAGTTCCCAGAGGAAACAGGAGGG AAAAGGGCGAGGACTGCACCCAGCCAGCTAGGGTATGAGTGTGAACCAT	DPRX	ENSG00000204595.3	transcript	ENST00000376650.2	protein_coding		4063		chr19	TogoVar
ECM1_chr1_150503109_150518789	150506491	CACACACA others(76): Show CACACACACACACACACACACACACAGTTTCTCTCTGTGGGGTTCTCATT GTTTGTCTTTCTCTGCTTGACTCTAATGTCTCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0018 a0001c0003t0003g0018	1	420	0.0024	-83	c.-17 others(94): Show c.-1718_-1636delACACACACACACACACACACACACAGTTTCTCTC TGTGGGGTTCTCATTGTTTGTCTTTCTCTGCTTGACTCTAATGTCTCTG	ECM1	ENSG00000143369.15	transcript	ENST00000369047.9	protein_coding		1617		chr1	TogoVar
EFCAB11_chr14_89789669_89959730	89936362	TTTATTTT others(76): Show TTTATTTTACAATATTGTAGGATAAAAACAAACAGTCTTTAGCTTTTACT AGGAGAAAATGTATGTGGATTTAAACTGTATGCC	T T	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0002 a0001c0003t0002g0002	1	284	0.0035	-83	c.218 others(100): Show c.218-3818_218-3736delGGCATACAGTTTAAATCCACATACATTT TCTCCTAGTAAAAGCTAAAGACTGTTTGTTTTTATCCTACAATATTGTAA AATAA	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	3/5			chr14	TogoVar
ENOSF1_chr18_665318_717630	666895	GGTGATGG others(76): Show GGTGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGG TGATGGTGATGGAGATGGAGATGGTGATGGAGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp2 NA19068.hp1 NA18999.hp2 NA19068.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0238 a0001c0003t0001g0239 a0001c0003t0001g0238 a0001c0003t0001g0239	2	418	0.0048	-83	c.73 others(94): Show c.7327_*7409delATCTCCATCACCATCTCCATCTCCATCACCATCA CCATCTCCATCACCATCACCATCTCCATCACCATCACCATCTCCATCAC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3422		chr18	TogoVar
ERFL_chr19_41902704_41933449	41923884	TGGTAGGG others(76): Show TGGTAGGGGTGCGCTGGGAGGGGCTGTGCTGGGGGTGTGTGTGGGGAGGT AGGGGTATGCTGGGAGGGGGCTGTGCTGGGGGGA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp2 HG02723.hp2 others(2): Show HG02145.hp1 HG02258.hp2 HG02723.hp2 HG02809.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0015 a0001c0002t0002g0031 a0001c0002t0002g0111 others(1): Show a0001c0002t0002g0015 a0001c0002t0002g0031 a0001c0002t0002g0111 a0001c0002t0002g0112	5	330	0.0152	-83	c.-14 others(100): Show c.-14+4073_-14+4155delTCCCCCCAGCACAGCCCCCTCCCAGCAT ACCCCTACCTCCCCACACACACCCCCAGCACAGCCCCTCCCAGCGCACCC CTACC	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERICH1_chr8_659200_736224	675212	TGAGGACA others(76): Show TGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00544.hp1 others(19): Show HG00323.hp2 HG00423.hp2 HG00544.hp1 HG00621.hp1 HG00642.hp1 HG00741.hp2 HG01256.hp2 HG01515.hp2 HG02015.hp2 HG02258.hp2 HG02683.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG03540.hp2 HG03831.hp1 HG03834.hp1 NA18612.hp1 NA18962.hp2 NA18969.hp1 NA18970.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0008 a0001c0001t0001g0137 a0001c0001t0001g0158 others(18): Show a0001c0001t0001g0008 a0001c0001t0001g0137 a0001c0001t0001g0158 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0180 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0225 a0001c0001t0002g0249 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0275 a0001c0001t0002g0297 a0001c0001t0002g0354 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0361	22	378	0.0582	-83	c.305 others(100): Show c.305-1248_305-1166delGCCGAGGGGCCGCCGCGTCTCTGTCCTC ACGAGGGGCCGCCGCGTCTCTGTCCTCGCCGAGGGGCCGCCGCGTCTCTG TCCTC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675267	TGAGGACA others(76): Show TGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA19030.hp1 NA19043.hp1 HG02886.hp1 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0222 a0001c0001t0002g0253 a0001c0003t0001g0224 a0001c0001t0001g0222 a0001c0001t0002g0253 a0001c0003t0001g0224	3	378	0.0079	-83	c.305 others(100): Show c.305-1303_305-1221delGCCGAGGGGGCGCCGCGTCTCTGTCCTC ACGAGGGGCCGCCGCGTCTCTGTCCTCGCCGAGGGGCCGCCGCGTCTCTG TCCTC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675515	TGAGGACA others(76): Show TGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGC	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG03486.hp1 NA18984.hp1 others(4): Show HG02074.hp2 HG03486.hp1 NA18984.hp1 NA19007.hp2 NA19012.hp1 NA19056.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0055 a0001c0001t0001g0060 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0133	7	378	0.0185	-83	c.305 others(100): Show c.305-1551_305-1469delGCCGAGGGGCCGCCGCGTCTCTGTCCTC ACGAGGGGCCGCCGCGTCTCTGTCCTCGCCGAGGGGCCGCCGCGTCTCTG TCCTC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675570	TGAGGACA others(76): Show TGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	378	0.0027	-83	c.305 others(100): Show c.305-1606_305-1524delGCCGAGGGGGCGCCGCGTCTCTGTCCTC ACGAGGGGCCGCCGCGTCTCTGTCCTCGCCGAGGGGCCGCCGCGTCTCTG TCCTC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar

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