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
CHST8_chr19_33616953_33778506	33757387	GAAGAAAG others(65): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01361.hp2 HG01516.hp2 others(1): Show HG00280.hp2 HG01361.hp2 HG01516.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0208 others(1): Show a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0208 a0001c0001t0003g0112	4	254	0.0158	-72	c.131 others(91): Show c.131-13961_131-13890delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757454	GAAAGAAA others(65): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	254	0.0039	-72	c.131 others(91): Show c.131-13957_131-13886delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CLSTN2_chr3_139930185_140582397	140490012	ATGTGTGT others(65): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01261.hp2 HG01346.hp1 others(7): Show HG00738.hp1 HG01261.hp2 HG01346.hp1 HG02965.hp1 HG02965.hp2 HG03209.hp1 HG03492.hp1 HG03492.hp2 NA19043.hp2 NA19079.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005 a0002c0007 a0006c0020	a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 others(7): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 a0001c0001t0029 a0001c0003t0003 a0001c0003t0020 a0002c0002t0002 a0002c0005t0001 a0002c0007t0003 a0006c0020t0034	a0001c0001t0001g0069 a0001c0001t0013g0090 a0001c0001t0014g0001 others(7): Show a0001c0001t0001g0069 a0001c0001t0013g0090 a0001c0001t0014g0001 a0001c0001t0029g0016 a0001c0003t0003g0080 a0001c0003t0020g0009 a0002c0002t0002g0054 a0002c0005t0001g0034 a0002c0007t0003g0015 a0006c0020t0034g0102	10	110	0.0909	-72	c.134 others(93): Show c.1344+23287_1344+23358delGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140539111	GACTTCAG others(65): Show GACTTCAGGATCTATAGAAGGTTAATAATTAATGTTTGTTAAATTATATC CTATTCTTGAGGCTACTTTGACA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG02622.hp1 others(3): Show HG02109.hp1 HG02280.hp1 HG02622.hp1 HG02970.hp2 HG03041.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0006 a0001c0015t0001 a0001c0001t0006 a0001c0015t0001	a0001c0001t0006g0025 a0001c0001t0006g0040 a0001c0001t0006g0055 others(3): Show a0001c0001t0006g0025 a0001c0001t0006g0040 a0001c0001t0006g0055 a0001c0001t0006g0057 a0001c0001t0006g0095 a0001c0015t0001g0021	6	110	0.0546	-72	c.150 others(91): Show c.1507+6658_1507+6729delGTTTGTTAAATTATATCCTATTCTTG AGGCTACTTTGACAACTTCAGGATCTATAGAAGGTTAATAATTAAT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNN2_chr19_1021608_1044065	1035126	GACACGGT others(65): Show GACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTG TAGACGGGGAGCGTGGGTGGGAC	G G	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0016 a0001c0005t0016	a0001c0005t0016g0213 a0001c0005t0016g0213	1	390	0.0026	-72	c.391 others(88): Show c.391-1001_391-930delACGGTGTCTGGTGTAGACGGGGAGCGTGG GTGGGACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACAC	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNTN4_chr3_2093866_3062959	2287707	AAGAGGAA others(65): Show AAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0009 a0005c0012t0009	a0005c0012t0009g0093 a0005c0012t0009g0093	1	116	0.0086	-72	c.-14 others(93): Show c.-144-51467_-144-51396delGGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN5_chr11_99015949_100363885	99475003	CTAGACCA others(65): Show CTAGACCATGTAAGATCCACCCTCATGAATGTGGGATTAGACCATGTAAG ATCCACCCTCATGAATGTGGGAT	C C	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0023 a0007c0007t0023	a0007c0007t0023g0046 a0007c0007t0023g0046	1	66	0.0152	-72	c.-70 others(91): Show c.-70-81046_-70-80975delATGAATGTGGGATTAGACCATGTAAG ATCCACCCTCATGAATGTGGGATTAGACCATGTAAGATCCACCCTC	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTRL_chr9_121069955_121182610	121092575	ATATATAA others(65): Show ATATATAATATATATCTATATATATAATATATATCTATATATATTATATA TATCTATATATATAATATATATC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp2 HG02145.hp2 others(3): Show HG01109.hp1 HG02055.hp2 HG02145.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 others(3): Show a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245	6	330	0.0182	-72	c.348 others(89): Show c.348+2177_349-2235delATATATATCTATATATATAATATATATC TATATATATTATATATATCTATATATATAATATATATCTATATA	CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding	4/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL26A1_chr7_101357875_101564024	101489659	TTCTTCCT others(65): Show TTCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTGTCTTTCTTT CTTTCATTCTTTCTTTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG06807.hp1 HG03516.hp2 HG06807.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0003c0010 a0001c0005 a0003c0010	a0001c0005t0005 a0003c0010t0022 a0001c0005t0005 a0003c0010t0022	a0001c0005t0005g0167 a0003c0010t0022g0166 a0001c0005t0005g0167 a0003c0010t0022g0166	2	174	0.0115	-72	c.385 others(91): Show c.385+41877_385+41948delCCTTCCTTCCTTCCTTCCTTTCTTTC TTTCTTTCTGTCTTTCTTTCTTTCATTCTTTCTTTCTCTCTCTCTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL4A3_chr2_227159624_227319792	227202846	CATATGTG others(65): Show CATATGTGTATATATACATATATGTGTATATATACATATGTGTATATATG TGTATATATGTGTATATATACAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA18960.hp1 HG01243.hp2 NA18960.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0002c0007t0003 a0001c0001t0001 a0002c0007t0003	a0001c0001t0001g0214 a0002c0007t0003g0065 a0001c0001t0001g0214 a0002c0007t0003g0065	2	344	0.0058	-72	c.88- others(89): Show c.88-35107_88-35036delACATATATGTGTATATATACATATGTGT ATATATGTGTATATATGTGTATATATACATATATGTGTATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL5A1_chr9_134636803_134849843	134848780	TGATCACA others(65): Show TGATCACACCTCCCAGGAAGCACAGGATCACACCTCCCAGGAAGCACGGG ATCACACCTCCCAGGAAGCACGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 NA18522.hp2 NA18906.hp2 HG03453.hp2 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0009 a0001c0045 a0001c0050 a0001c0009 a0001c0045 a0001c0050	a0001c0009t0023 a0001c0045t0004 a0001c0050t0004 a0001c0009t0023 a0001c0045t0004 a0001c0050t0004	a0001c0009t0023g0263 a0001c0045t0004g0104 a0001c0050t0004g0034 a0001c0009t0023g0263 a0001c0045t0004g0104 a0001c0050t0004g0034	3	272	0.0110	-72	c.64 others(83): Show c.6478_*6549delGATCACACCTCCCAGGAAGCACAGGATCACACCT CCCAGGAAGCACGGGATCACACCTCCCAGGAAGCACGG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		3938		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134849037	GAGCACCG others(65): Show GAGCACCGGATCACACCTCCCAGGAACCACGATATCACACCTCCCAGGAA GCACAGGATCACACCTCCCAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00609.hp2 HG00673.hp2 others(20): Show HG00423.hp2 HG00609.hp2 HG00673.hp2 HG02080.hp1 HG02129.hp1 HG02165.hp1 HG02257.hp2 HG02809.hp1 HG03710.hp1 HG03927.hp2 NA18747.hp1 NA18950.hp2 NA18961.hp1 NA18961.hp2 NA18967.hp1 NA19005.hp2 NA19007.hp1 NA19057.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0010 a0001c0016 a0002c0013 a0002c0017	a0001c0001t0002 a0001c0001t0009 a0001c0002t0001 others(13): Show a0001c0001t0002 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 a0001c0003t0008 a0001c0004t0002 a0001c0004t0003 a0001c0004t0033 a0001c0008t0003 a0001c0008t0034 a0001c0010t0003 a0001c0016t0046 a0002c0013t0003 a0002c0017t0003	a0001c0001t0002g0069 a0001c0001t0002g0073 a0001c0001t0002g0111 others(20): Show a0001c0001t0002g0069 a0001c0001t0002g0073 a0001c0001t0002g0111 a0001c0001t0009g0109 a0001c0002t0001g0144 a0001c0002t0002g0074 a0001c0002t0002g0160 a0001c0002t0004g0015 a0001c0003t0001g0222 a0001c0003t0008g0078 a0001c0004t0002g0132 a0001c0004t0003g0064 a0001c0004t0003g0145 a0001c0004t0033g0131 a0001c0008t0003g0017 a0001c0008t0034g0151 a0001c0010t0003g0068 a0001c0016t0046g0020 a0002c0013t0003g0061 a0002c0013t0003g0076 a0002c0017t0003g0118 a0002c0017t0003g0163 a0002c0017t0003g0223	23	272	0.0846	-72	c.67 others(83): Show c.6735_*6806delAGCACCGGATCACACCTCCCAGGAACCACGATAT CACACCTCCCAGGAAGCACAGGATCACACCTCCCAGGA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4195		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134849043	CGGATCAC others(65): Show CGGATCACACCTCCCAGGAACCACGATATCACACCTCCCAGGAAGCACAG GATCACACCTCCCAGGAAGCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02622.hp1 HG03486.hp2 HG02109.hp2 HG02622.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0049 a0001c0065 a0001c0001 a0001c0049 a0001c0065	a0001c0001t0010 a0001c0049t0003 a0001c0065t0003 a0001c0001t0010 a0001c0049t0003 a0001c0065t0003	a0001c0001t0010g0098 a0001c0049t0003g0183 a0001c0065t0003g0009 a0001c0001t0010g0098 a0001c0049t0003g0183 a0001c0065t0003g0009	3	272	0.0110	-72	c.67 others(83): Show c.6741_*6812delGGATCACACCTCCCAGGAACCACGATATCACACC TCCCAGGAAGCACAGGATCACACCTCCCAGGAAGCACA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4201		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134849157	GAGCACCA others(65): Show GAGCACCAGATCACACCTCCCAGGAACCACGATATCACACCTCCCAGGAA GCACAGGATCACACCTCCCAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01255.hp1 HG02572.hp1 HG01109.hp1 HG01255.hp1 HG02572.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0034 a0006c0040 a0001c0001 a0006c0034 a0006c0040	a0001c0001t0009 a0006c0034t0009 a0006c0040t0009 a0001c0001t0009 a0006c0034t0009 a0006c0040t0009	a0001c0001t0009g0233 a0006c0034t0009g0193 a0006c0040t0009g0189 a0001c0001t0009g0233 a0006c0034t0009g0193 a0006c0040t0009g0189	3	272	0.0110	-72	c.68 others(83): Show c.6855_*6926delAGCACCAGATCACACCTCCCAGGAACCACGATAT CACACCTCCCAGGAAGCACAGGATCACACCTCCCAGGA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4315		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134849349	AACCACGA others(65): Show AACCACGATATCACACCTCCCAGGAACCACGATATCACACCTCCCAGGAA GCACGGGATCAGACCTCCTGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG00673.hp1 others(21): Show HG00140.hp2 HG00558.hp1 HG00673.hp1 HG01071.hp1 HG01071.hp2 HG01993.hp2 HG02004.hp1 HG02080.hp2 HG02155.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03688.hp2 NA18522.hp1 NA18969.hp2 NA18970.hp1 NA18983.hp2 NA18998.hp1 NA19007.hp2 NA19009.hp2 NA19064.hp1 NA19067.hp2 NA19080.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0028 a0001c0056 a0002c0013 a0008c0030	a0001c0001t0004 a0001c0001t0005 a0001c0001t0024 others(14): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0024 a0001c0001t0031 a0001c0002t0005 a0001c0002t0016 a0001c0002t0042 a0001c0003t0005 a0001c0003t0021 a0001c0003t0028 a0001c0003t0044 a0001c0004t0004 a0001c0006t0001 a0001c0028t0004 a0001c0056t0001 a0002c0013t0021 a0008c0030t0001	a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0005g0055 others(21): Show a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0005g0055 a0001c0001t0005g0119 a0001c0001t0005g0155 a0001c0001t0024g0216 a0001c0001t0024g0217 a0001c0001t0031g0075 a0001c0002t0005g0025 a0001c0002t0005g0060 a0001c0002t0005g0063 a0001c0002t0005g0211 a0001c0002t0016g0237 a0001c0002t0042g0185 a0001c0003t0005g0070 a0001c0003t0021g0169 a0001c0003t0028g0135 a0001c0003t0044g0186 a0001c0004t0004g0089 a0001c0006t0001g0108 a0001c0028t0004g0213 a0001c0056t0001g0084 a0002c0013t0021g0071 a0008c0030t0001g0137	24	272	0.0882	-72	c.70 others(83): Show c.7047_*7118delACCACGATATCACACCTCCCAGGAACCACGATAT CACACCTCCCAGGAAGCACGGGATCAGACCTCCTGGGG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4507		chr9	TogoVar
COL6A2_chr21_46093112_46134801	46134479	CAGGTTTA others(65): Show CAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCA GGTTTAGGGTGAGGGTGAGGGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0007 a0003c0007t0007	a0003c0007t0007g0048 a0003c0007t0007g0048	1	372	0.0027	-72	c.49 others(83): Show c.4989_*5060delAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGG TGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4679		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134485	TAGGGTCA others(65): Show TAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTA GGGTGAGGGTGAGGGTGAGGGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG03453.hp1 HG01891.hp1 HG03453.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0237 a0001c0006t0005g0238 a0001c0006t0005g0237 a0001c0006t0005g0238	2	372	0.0054	-72	c.49 others(83): Show c.4995_*5066delAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGG TGAGGGTCAGGTTTAGGGTGAGGGTGAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4685		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134479	CAGGTTTA others(65): Show CAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCA GGTTTAGGGTGAGGGTGAGGGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0050 a0003c0008t0003g0050	1	364	0.0028	-72	c.19 others(83): Show c.1928_*1999delAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGG TGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1632		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134485	TAGGGTCA others(65): Show TAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTA GGGTGAGGGTGAGGGTGAGGGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG03453.hp1 HG01891.hp1 HG03453.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0005 a0001c0026t0005	a0001c0026t0005g0233 a0001c0026t0005g0234 a0001c0026t0005g0233 a0001c0026t0005g0234	2	364	0.0055	-72	c.19 others(83): Show c.1934_*2005delAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGG TGAGGGTCAGGTTTAGGGTGAGGGTGAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1638		chr21	TogoVar
COL9A3_chr20_62812050_62846159	62825064	AGGCTGGG others(65): Show AGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGG GCTGGGCTCCGGCGGGAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0246 a0001c0010t0004g0246	1	412	0.0024	-72	c.630 others(87): Show c.630+108_630+179delGAGGGAGGGGCTGGGCTCCGGCGGGAGGGA GGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COPS8_chr2_237080889_237105474	237094006	AAGGACAG others(65): Show AAGGACAGTGGTGTGATTTAACAATGTGCTTTGAAAATGCTGCTCCCTGG TTCACTCTCTGCCAACCCACCAC	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0041	1	348	0.0029	-72	c.332 others(85): Show c.332-83_332-12delAGGACAGTGGTGTGATTTAACAATGTGCTTTG AAAATGCTGCTCCCTGGTTCACTCTCTGCCAACCCACCAC	COPS8	ENSG00000198612.11	transcript	ENST00000354371.7	protein_coding	4/7			chr2	TogoVar
CPXM2_chr10_123740639_123896807	123857542	CGATGGAA others(65): Show CGATGGAAGGCGGCGTGGAGATGGAAGGCGGCGTGGAGATGGAAGGCGGC GTGGAGATGGAAGGCGGCGTGGA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0096 a0001c0004t0001g0096	1	288	0.0035	-72	c.513 others(89): Show c.513+5000_513+5071delTCCACGCCGCCTTCCATCTCCACGCCGC CTTCCATCTCCACGCCGCCTTCCATCTCCACGCCGCCTTCCATC	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	3/13			chr10	TogoVar
CREBBP_chr16_3720054_3885713	3814164	AGTGTGTG others(65): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGACAGAGTCTCGT TCTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0007 a0005c0019t0007	a0005c0019t0007g0008 a0005c0019t0007g0008	1	286	0.0035	-72	c.799 others(89): Show c.799-3457_799-3386delACACACACACACACACACACAGAACGAG ACTCTGTCTCAAACACACACACACACACACACACACACACACAC	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	2/30			chr16	TogoVar
CROCC2_chr2_240901336_240998311	240917237	AATAGGGC others(65): Show AATAGGGCCTCTCCAGGCGCCATGCTGAGCCTGGGTCTGCGGTGACTCTC CAACCCCGGCGAGGGGGGCCGCG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG01433.hp1 others(44): Show HG00423.hp1 HG00558.hp1 HG01433.hp1 HG02080.hp1 HG02109.hp2 HG02148.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02809.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp2 NA18522.hp2 NA18944.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18977.hp1 NA18979.hp2 NA18984.hp1 NA18986.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19012.hp2 NA19056.hp1 NA19066.hp1 NA19067.hp1 NA19079.hp2 NA19080.hp1 NA19087.hp1	a0001 a0007 a0009 others(10): Show a0001 a0007 a0009 a0010 a0012 a0013 a0015 a0017 a0022 a0024 a0025 a0049 a0056	a0001c0001 a0007c0006 a0009c0010 others(12): Show a0001c0001 a0007c0006 a0009c0010 a0010c0009 a0012c0013 a0013c0075 a0013c0076 a0015c0016 a0017c0041 a0022c0038 a0022c0042 a0024c0077 a0025c0018 a0049c0040 a0056c0032	a0001c0001t0001 a0001c0001t0003 a0007c0006t0001 others(17): Show a0001c0001t0001 a0001c0001t0003 a0007c0006t0001 a0007c0006t0003 a0007c0006t0009 a0009c0010t0003 a0010c0009t0001 a0010c0009t0005 a0012c0013t0001 a0013c0075t0001 a0013c0076t0001 a0015c0016t0001 a0015c0016t0002 a0017c0041t0003 a0022c0038t0001 a0022c0042t0002 a0024c0077t0001 a0025c0018t0001 a0049c0040t0001 a0056c0032t0001	a0001c0001t0001g0100 a0001c0001t0003g0196 a0007c0006t0001g0013 others(42): Show a0001c0001t0001g0100 a0001c0001t0003g0196 a0007c0006t0001g0013 a0007c0006t0001g0055 a0007c0006t0001g0085 a0007c0006t0001g0086 a0007c0006t0001g0088 a0007c0006t0001g0099 a0007c0006t0003g0002 a0007c0006t0003g0079 a0007c0006t0003g0080 a0007c0006t0003g0081 a0007c0006t0003g0097 a0007c0006t0003g0098 a0007c0006t0003g0103 a0007c0006t0003g0162 a0007c0006t0003g0164 a0007c0006t0009g0102 a0009c0010t0003g0197 a0010c0009t0001g0076 a0010c0009t0001g0087 a0010c0009t0001g0089 a0010c0009t0001g0090 a0010c0009t0001g0091 a0010c0009t0001g0092 a0010c0009t0001g0101 a0010c0009t0001g0225 a0010c0009t0005g0001 a0012c0013t0001g0106 a0012c0013t0001g0121 a0012c0013t0001g0122 a0012c0013t0001g0123 a0012c0013t0001g0124 a0013c0075t0001g0178 a0013c0076t0001g0105 a0015c0016t0001g0070 a0015c0016t0001g0201 a0015c0016t0002g0246 a0017c0041t0003g0163 a0022c0038t0001g0050 a0022c0042t0002g0282 a0024c0077t0001g0111 a0025c0018t0001g0077 a0049c0040t0001g0096 a0056c0032t0001g0104	47	350	0.1343	-72	c.79- others(87): Show c.79-1486_79-1415delAGGGCCTCTCCAGGCGCCATGCTGAGCCTG GGTCTGCGGTGACTCTCCAACCCCGGCGAGGGGGGCCGCGAT	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666968	AAAGAAAG others(65): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	238	0.0042	-72	c.-39 others(93): Show c.-391-65175_-391-65104delCCTTCCTTCCTTCCTTCCTTCCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4486180	CATATATA others(65): Show CATATATATATATATATATACATACATATATATATATATATATATACATA CATATATATATATATACATACAT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0093 a0001c0093	a0001c0093t0009 a0001c0093t0009	a0001c0093t0009g0007 a0001c0093t0009g0007	1	126	0.0079	-72	c.303 others(91): Show c.303-66187_303-66116delATGTATGTATATATATATATATGTAT GTATATATATATATATATATATGTATGTATATATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4532592	TGGAAGAG others(65): Show TGGAAGAGAAATCCTGCACCGCCATTCAGAGTCACTCTGGAAGAGAAATC CTGCACCCCCATTCAGTCACTCC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03098.hp2 HG03130.hp1 others(2): Show HG02965.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03579.hp2	a0001 a0011 a0013 others(2): Show a0001 a0011 a0013 a0020 a0038	a0001c0026 a0011c0110 a0013c0027 others(2): Show a0001c0026 a0011c0110 a0013c0027 a0020c0024 a0038c0066	a0001c0026t0006 a0011c0110t0074 a0013c0027t0003 others(2): Show a0001c0026t0006 a0011c0110t0074 a0013c0027t0003 a0020c0024t0077 a0038c0066t0010	a0001c0026t0006g0093 a0011c0110t0074g0082 a0013c0027t0003g0099 others(2): Show a0001c0026t0006g0093 a0011c0110t0074g0082 a0013c0027t0003g0099 a0020c0024t0077g0104 a0038c0066t0010g0032	5	126	0.0397	-72	c.302 others(93): Show c.302+104678_302+104749delGGAGTGACTGAATGGGGGTGCAGG ATTTCTCTTCCAGAGTGACTCTGAATGGCGGTGCAGGATTTCTCTTCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4761836	CATCTATC others(65): Show CATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTA TCTACCTACCTATCTATCTATCT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG06807.hp2 HG03139.hp2 HG06807.hp2	a0001 a0001	a0001c0033 a0001c0068 a0001c0033 a0001c0068	a0001c0033t0003 a0001c0068t0015 a0001c0033t0003 a0001c0068t0015	a0001c0033t0003g0059 a0001c0068t0015g0049 a0001c0033t0003g0059 a0001c0068t0015g0049	2	126	0.0159	-72	c.86- others(91): Show c.86-124350_86-124279delAGATAGATAGATAGGTAGGTAGATAG ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4761840	TATCTATC others(65): Show TATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTA CCTACCTATCTATCTATCTATCA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0005 a0005	a0005c0107 a0005c0107	a0005c0107t0068 a0005c0107t0068	a0005c0107t0068g0073 a0005c0107t0068g0073	1	126	0.0079	-72	c.86- others(91): Show c.86-124354_86-124283delTGATAGATAGATAGATAGGTAGGTAG ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542600	ATATATAT others(65): Show ATATATATATATATATATATATATATATATATATATATATGTATATATAT ATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	390	0.0026	-72	c.230 others(89): Show c.230+7403_230+7474delCATATATATATATATATATATATATATA TATACATATATATATATATATATATATATATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CTIF_chr18_48534031_48868217	48730640	TGTGGTGT others(65): Show TGTGGTGTGAGGGGCTTCTGCGGTGTGAGGGGCTTCTGCGGTGTGAGGAG CCCCTGAGGTGTGAGGGGCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG00735.hp1 others(20): Show HG00639.hp2 HG00642.hp1 HG00735.hp1 HG01069.hp2 HG01346.hp2 HG01934.hp2 HG01952.hp2 HG02615.hp1 HG02735.hp2 HG03195.hp2 HG03516.hp1 HG04115.hp2 NA18906.hp1 NA18952.hp2 NA18972.hp1 NA18972.hp2 NA19030.hp2 NA19068.hp1 NA19240.hp1 NA20129.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0002c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027 a0001c0001t0033 a0001c0002t0002 a0001c0003t0001 a0002c0004t0016 a0002c0012t0002	a0001c0001t0001g0017 a0001c0001t0001g0075 a0001c0001t0001g0089 others(20): Show a0001c0001t0001g0017 a0001c0001t0001g0075 a0001c0001t0001g0089 a0001c0001t0002g0101 a0001c0001t0004g0059 a0001c0001t0007g0040 a0001c0001t0009g0003 a0001c0001t0009g0037 a0001c0001t0010g0078 a0001c0001t0012g0122 a0001c0001t0014g0022 a0001c0001t0017g0112 a0001c0001t0021g0141 a0001c0001t0022g0009 a0001c0001t0022g0056 a0001c0001t0027g0028 a0001c0001t0027g0034 a0001c0001t0033g0092 a0001c0002t0002g0103 a0001c0003t0001g0121 a0002c0004t0016g0012 a0002c0004t0016g0041 a0002c0012t0002g0123	23	144	0.1597	-72	c.584 others(91): Show c.584+18947_584+19018delTGGTGTGAGGGGCTTCTGCGGTGTGA GGGGCTTCTGCGGTGTGAGGAGCCCCTGAGGTGTGAGGGGCTTCCG	CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTNS_chr17_3631760_3668103	3656383	TCTGCCCT others(65): Show TCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCT CCACCCCTGCCAGTCTTCACCCC	T T	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0277 a0002c0002t0015g0277	1	372	0.0027	-72	c.462 others(85): Show c.462-95_462-24delCCCCTCCACCCCCGCCAGTCCTCACCCTCTGC CCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTG	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
CYBRD1_chr2_171517474_171563129	171558384	TCATATAT others(65): Show TCATATATTTATATATAATATTTACTATTAATATCATATATTTATATATA ATATTTACTATTAATATTATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	394	0.0025	-72	c.35 others(83): Show c.3558_*3629delCATATATTTATATATAATATTTACTATTAATATC ATATATTTATATATAATATTTACTATTAATATTATATA	CYBRD1	ENSG00000071967.12	transcript	ENST00000321348.9	protein_coding		256		chr2	TogoVar
CYTH1_chr17_78669048_78787273	78760445	ATATATAT others(65): Show ATATATATATACATACATATATATATGTATATATATGTATGTATATATAT ATACATATATATGTATATATATG	A A	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0304 a0001c0001t0002g0304	1	378	0.0027	-72	c.22+ others(89): Show c.22+21685_22+21756delCATATATATACATATATATGTATATATA TATACATACATATATATACATATATATATGTATGTATATATATA	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13			chr17	TogoVar
DACH2_chrX_86143451_86837602	86205458	CTCCCTCC others(65): Show CTCCCTCCCTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	166	0.0060	-72	c.488 others(91): Show c.488+56354_488+56425delCTCCCTCCTTCCCTCCTTCCCTCCTT CCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DAGLB_chr7_6404129_6452954	6421307	TCAGGCAG others(65): Show TCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGG AGGCGCAGGCAGCGCGGGAGGCG	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01168.hp1 HG01884.hp1 others(5): Show HG01106.hp2 HG01168.hp1 HG01884.hp1 HG01981.hp2 HG03017.hp2 HG04199.hp1 HG04228.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 others(5): Show a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0238 a0001c0001t0003g0246 a0001c0001t0003g0249 a0001c0001t0003g0263 a0001c0001t0003g0281	8	380	0.0211	-72	c.121 others(89): Show c.1218+348_1218+419delCGCCTCCCGCGCTGCCTGCGCCTCCCGC GCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTG	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14			chr7	TogoVar
DDA1_chr19_17304563_17328298	17315135	ATATATAT others(65): Show ATATATATACACACACGTATATATACACACGTGTATATACACACACGTGT ATACACACACGTGTATACACACG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01346.hp1 HG03017.hp2 HG01175.hp2 HG01346.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0200 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0200 a0001c0001t0004g0206 a0001c0001t0004g0207	3	388	0.0077	-72	c.136 others(87): Show c.136+748_137-726delATATATACACACACGTATATATACACACGT GTATATACACACACGTGTATACACACACGTGTATACACACGT	DDA1	ENSG00000130311.11	transcript	ENST00000359866.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
DDX51_chr12_132131594_132149319	132134954	GCTACCTC others(65): Show GCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTC TCCGAGTGTGCCCACGGTGCCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0008 a0004c0004t0008	a0004c0004t0008g0009 a0004c0004t0008g0009	1	334	0.0030	-72	c.42 others(83): Show c.4246_*4317delTGGGCACCGTGGGCACACTCGGAGAGGTGGGAGG AGTGGGCACCGTGGGCACACTCGGGAGGTGGGAGGTAG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1639		chr12	TogoVar
DDX54_chr12_113152173_113190478	113162832	GGGAGGGG others(65): Show GGGAGGGGCGGCTCACTCGATCACTCACCCCAGGCACGGAGGAGCAGCTC ACTCGGTCACTCACCCCGAGCAT	G G	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	306	0.0033	-72	c.219 others(87): Show c.2195+28_2195+99delATGCTCGGGGTGAGTGACCGAGTGAGCTGC TCCTCCGTGCCTGGGGTGAGTGATCGAGTGAGCCGCCCCTCC	DDX54	ENSG00000123064.13	transcript	ENST00000306014.10	protein_coding	17/19			chr12	TogoVar
DEPDC1B_chr5_60591912_60705166	60667991	TTATATAT others(65): Show TTATATATATAAAATGGATATTTTATATATATATAAAATGGATATTTTAT ATATATATAAAATGGATATTTTA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	292	0.0034	-72	c.314 others(91): Show c.314+18899_314+18970delTAAAATATCCATTTTATATATATATA AAATATCCATTTTATATATATATAAAATATCCATTTTATATATATA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC7_chr11_33010878_33038582	33029277	CACTTGAG others(65): Show CACTTGAGGTCAGGAGTGCGAGGCCAGCCTGGCCGACATGGTAAAACCCC GACTCTACTAAAAATACAAAAAT	C C	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0118 a0002c0003t0001g0118	1	422	0.0024	-72	c.782 others(87): Show c.782+486_782+557delACTTGAGGTCAGGAGTGCGAGGCCAGCCTG GCCGACATGGTAAAACCCCGACTCTACTAAAAATACAAAAAT	DEPDC7	ENSG00000121690.11	transcript	ENST00000241051.8	protein_coding	4/8			chr11	TogoVar
DGKI_chr7_137376037_137851974	137448566	AGAAGGAG others(65): Show AGAAGGAGGAGGGAGGGAAGGAAGGGAGGGAGGAAGGGAAGGAGGAGGGA GGGAAGGAAGGGAGGGAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG01099.hp1 others(41): Show HG00642.hp1 HG00642.hp2 HG01099.hp1 HG01099.hp2 HG01261.hp1 HG01884.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG04204.hp2 NA18522.hp2 NA18906.hp2 NA18979.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0014 a0001c0019 a0002c0020	a0001c0001t0001 a0001c0001t0007 a0001c0001t0016 others(31): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0016 a0001c0002t0021 a0001c0002t0025 a0001c0002t0034 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0023 a0001c0003t0030 a0001c0003t0035 a0001c0003t0037 a0001c0003t0046 a0001c0004t0003 a0001c0005t0002 a0001c0005t0004 a0001c0005t0006 a0001c0005t0026 a0001c0005t0029 a0001c0005t0031 a0001c0006t0002 a0001c0006t0008 a0001c0006t0009 a0001c0006t0013 a0001c0007t0003 a0001c0009t0040 a0001c0010t0001 a0001c0010t0012 a0001c0011t0001 a0001c0014t0004 a0001c0014t0007 a0001c0019t0005 a0002c0020t0001	a0001c0001t0001g0034 a0001c0001t0007g0050 a0001c0001t0007g0051 others(41): Show a0001c0001t0001g0034 a0001c0001t0007g0050 a0001c0001t0007g0051 a0001c0001t0016g0005 a0001c0002t0021g0009 a0001c0002t0025g0021 a0001c0002t0034g0011 a0001c0003t0004g0023 a0001c0003t0005g0091 a0001c0003t0006g0014 a0001c0003t0006g0041 a0001c0003t0006g0046 a0001c0003t0023g0061 a0001c0003t0030g0057 a0001c0003t0035g0028 a0001c0003t0037g0036 a0001c0003t0046g0094 a0001c0004t0003g0077 a0001c0005t0002g0056 a0001c0005t0004g0045 a0001c0005t0004g0058 a0001c0005t0006g0019 a0001c0005t0026g0025 a0001c0005t0029g0062 a0001c0005t0031g0060 a0001c0006t0002g0015 a0001c0006t0008g0030 a0001c0006t0008g0043 a0001c0006t0008g0044 a0001c0006t0009g0064 a0001c0006t0013g0007 a0001c0006t0013g0012 a0001c0007t0003g0088 a0001c0009t0040g0086 a0001c0010t0001g0006 a0001c0010t0012g0047 a0001c0010t0012g0053 a0001c0011t0001g0002 a0001c0011t0001g0031 a0001c0011t0001g0040 a0001c0014t0004g0029 a0001c0014t0007g0016 a0001c0019t0005g0090 a0002c0020t0001g0017	44	94	0.4681	-72	c.273 others(91): Show c.2736-4536_2736-4465delCCTTCCTCCCTCCCTTCCTTCCCTCC CTCCTCCTTCCCTTCCTCCCTCCCTTCCTTCCCTCCCTCCTCCTTC	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	27/32			chr7	TogoVar
DHRS12_chr13_51762993_51809163	51774680	TCTACAGT others(65): Show TCTACAGTATTCTCCTACAGTATTCTACTACATGTATTCTCCTACAGTAC ATGTATTCTCCTACAGTATTCTC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01109.hp1 HG01243.hp1 others(13): Show HG01106.hp1 HG01109.hp1 HG01243.hp1 HG01255.hp2 HG01261.hp2 HG01496.hp2 HG01952.hp1 HG02004.hp2 HG02148.hp1 HG02293.hp1 HG02698.hp1 HG03130.hp1 HG03453.hp2 HG03486.hp1 HG04184.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0002 a0002c0002t0003g0042 a0002c0002t0003g0044 others(9): Show a0002c0002t0003g0002 a0002c0002t0003g0042 a0002c0002t0003g0044 a0002c0002t0003g0050 a0002c0002t0003g0080 a0002c0002t0003g0141 a0002c0002t0003g0157 a0002c0002t0003g0158 a0002c0002t0003g0174 a0002c0002t0003g0228 a0002c0002t0003g0255 a0002c0002t0003g0320	16	420	0.0381	-72	c.364 others(87): Show c.364-718_364-647delGAGAATACTGTAGGAGAATACATGTACTGT AGGAGAATACATGTAGTAGAATACTGTAGGAGAATACTGTAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775780	TCTACAGT others(65): Show TCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTAC ATGTATTCTCCTACAGTATTCTC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	420	0.0024	-72	c.363 others(89): Show c.363+1208_363+1279delGAGAATACTGTAGGAGAATACATGTACT GTAGGAGAATACATGTAGGAGAATACTGTAGGAGAATACTGTAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRSX_chrX_2214506_2505976	2228030	GAGGAAGG others(65): Show GAGGAAGGGGGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGAGGGGAA GGGAGGGAGGGAAGGAGGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	50	0.0200	-72	c.805 others(89): Show c.805-6873_805-6802delTCCTCCCTCCTTCCCTCCCTCCCTTCCC CTCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCCCCCTTCCT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DIP2C_chr10_269201_694668	532668	TGAGAGAG others(65): Show TGAGAGAGAGTATGGGTGTGAGAGAGTATGGGTGTGAGAGAGAGTATGGG TGTGAGAGAGAGTATGGGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp1 HG01099.hp1 others(6): Show HG00738.hp1 HG01081.hp1 HG01099.hp1 HG01515.hp2 HG01934.hp2 HG02155.hp1 HG02602.hp2 HG03834.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0012 others(2): Show a0001c0001 a0001c0003 a0001c0012 a0001c0013 a0001c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0003t0002 a0001c0012t0002 a0001c0013t0002 a0001c0014t0001	a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0050 others(6): Show a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0003g0070 a0001c0001t0004g0015 a0001c0003t0002g0037 a0001c0012t0002g0052 a0001c0013t0002g0035 a0001c0014t0001g0044	9	88	0.1023	-72	c.86- others(89): Show c.86-46210_86-46139delTCACACCCATACTCTCTCTCACACCCAT ACTCTCTCTCACACCCATACTCTCTCACACCCATACTCTCTCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIPK2A_chr3_143966823_143997368	143978602	CTATATAT others(65): Show CTATATATATATATCTATATCTATATATATATATATATCTATATATATAT ATATATATCTATATATAGATATA	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0258 a0001c0001t0015g0258	1	408	0.0025	-72	c.657 others(89): Show c.657+5621_657+5692delATATATCTATATCTATATATATATATAT ATCTATATATATATATATATATCTATATATAGATATATATATAT	DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DIRAS1_chr19_2709567_2726372	2713756	ACCACCTC others(65): Show ACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACC TCCTCCACCCTTCATCCCATCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 NA18906.hp2 HG03453.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0017 a0001c0001t0016 a0001c0001t0017	a0001c0001t0016g0026 a0001c0001t0017g0055 a0001c0001t0016g0026 a0001c0001t0017g0055	2	412	0.0049	-72	c.33 others(83): Show c.3382_*3453delGGGATGGGATGAAGGGTGGAGGAGGTGACGGGTG TAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		810		chr19	TogoVar
DISC1_chr1_231621790_232046272	231733510	AGAGTGAT others(65): Show AGAGTGATGGTGGTAGTTGTAGTGGTGATGATGGTAGGAGTGGTAGTGGC TGTGGCAGTGCTGGTGATGGTGG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0005 a0003c0002t0005	a0003c0002t0005g0019 a0003c0002t0005g0019	1	40	0.0250	-72	c.111 others(93): Show c.1118-16396_1118-16325delAGTGGTGATGATGGTAGGAGTGGT AGTGGCTGTGGCAGTGCTGGTGATGGTGGGAGTGATGGTGGTAGTTGT	DISC1	ENSG00000162946.24	transcript	ENST00000439617.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
DLG2_chr11_83450173_85632344	84502200	CTCCTTCC others(65): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	14	0.0714	-72	c.519 others(91): Show c.519+32298_519+32369delAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	7/27			chr11	TogoVar

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